CleftGeneDB-Search

Gene: CBS

Basic information

Tag	Content
Uniprot ID	P35520; B2R993; D3DSK4; Q99425; Q9BWC5;
Entrez ID	875
Genbank protein ID	AAC64683.1; AAH10242.1; EAX09515.1; CAA61252.1; AAH07257.1; BAG36440.1; EAX09509.1; AAH11381.1; AAA98524.1; AAC64684.1; AAH00440.1; EAX09508.1; AAP35818.1; AAA19874.1; EAX09510.1; EAX09511.1; CAA57656.1;
Genbank nucleotide ID	XM_017028214.1; XM_011529777.1; NM_001178009.2; XM_011546095.2; XM_017028217.1; XM_017028490.1; NM_001178008.2; XM_011546094.1; XM_011546099.1; XM_017028218.1; XM_017028211.1; NM_000071.2; XM_017028213.1; XM_011529782.1; XM_017028216.1; XM_017028212.1; XM_017028489.1; XM_017028492.1; XM_017028215.1; NM_001320298.1; NM_001321073.1; XM_011546098.1; XM_011546097.2; XM_017028491.1; XM_011529781.1;
Ensembl protein ID	ENSP00000381231; ENSP00000352643; ENSP00000344460; ENSP00000381225;
Ensembl nucleotide ID	ENSG00000160200
Gene name	Cystathionine beta-synthase
Gene symbol	CBS
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	21564312; 24437588; 18203168; 16007597;
Functional description	Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity).
Sequence	MPSETPQAEV GPTGCPHRSG PHSAKGSLEK GSPEDKEAKE PLWIRPDAPS RCTWQLGRPA 60 SESPHHHTAP AKSPKILPDI LKKIGDTPMV RINKIGKKFG LKCELLAKCE FFNAGGSVKD 120 RISLRMIEDA ERDGTLKPGD TIIEPTSGNT GIGLALAAAV RGYRCIIVMP EKMSSEKVDV 180 LRALGAEIVR TPTNARFDSP ESHVGVAWRL KNEIPNSHIL DQYRNASNPL AHYDTTADEI 240 LQQCDGKLDM LVASVGTGGT ITGIARKLKE KCPGCRIIGV DPEGSILAEP EELNQTEQTT 300 YEVEGIGYDF IPTVLDRTVV DKWFKSNDEE AFTFARMLIA QEGLLCGGSA GSTVAVAVKA 360 AQELQEGQRC VVILPDSVRN YMTKFLSDRW MLQKGFLKEE DLTEKKPWWW HLRVQELGLS 420 APLTVLPTIT CGHTIEILRE KGFDQAPVVD EAGVILGMVT LGNMLSSLLA GKVQPSDQVG 480 KVIYKQFKQI RLTDTLGRLS HILEMDHFAL VVHEQIQYHS TGKSSQRQMV FGVVTAIDLL 540 NFVAAQERDQ K 551

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1JBQ
1M54
4COO
4L0D
4L27
4L28
4L3V
4PCU
4UUU
5MMS
1M54
4COO
4L0D
4L27
4L28
4UUU

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
CBS	c.844ins68	TDT	16007597
CBS	rs4920037	Genotyping	21564312
CBS	c.844ins68	Genotyping	24437588
CBS	rs234706; c.699C>T	Genotyping	18203168

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000176975	p.Met1Thr	missense variant	-	NC_000021.9:g.43072192A>G	ClinVar
rs546530618	p.Pro2Leu	missense variant	-	NC_000021.9:g.43072189G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000200313	p.Pro2Leu	missense variant	-	NC_000021.9:g.43072189G>A	ClinVar
rs748832676	p.Glu4Asp	missense variant	-	NC_000021.9:g.43072182C>G	ExAC
rs528184368	p.Pro6Ser	missense variant	-	NC_000021.9:g.43072178G>A	1000Genomes,ExAC,gnomAD
RCV000409151	p.Gln7Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072180dup	ClinVar
RCV000478091	p.Gln7Ter	frameshift	-	NC_000021.9:g.43072180dup	ClinVar
rs919403971	p.Ala8Gly	missense variant	-	NC_000021.9:g.43072171G>C	TOPMed,gnomAD
rs758092887	p.Glu9Gln	missense variant	-	NC_000021.9:g.43072169C>G	ExAC,gnomAD
rs758092887	p.Glu9Lys	missense variant	-	NC_000021.9:g.43072169C>T	ExAC,gnomAD
RCV000409242	p.Glu9Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072161_43072179del	ClinVar
rs1479837105	p.Val10Met	missense variant	-	NC_000021.9:g.43072166C>T	gnomAD
RCV000279971	p.Val10Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072166del	ClinVar
RCV000723446	p.Val10Ter	frameshift	-	NC_000021.9:g.43072166del	ClinVar
rs1205411379	p.Gly11Arg	missense variant	-	NC_000021.9:g.43072163C>T	gnomAD
rs558259739	p.Pro12Ser	missense variant	-	NC_000021.9:g.43072160G>A	ExAC,gnomAD
RCV000704996	p.Pro12Ser	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072160G>A	ClinVar
rs1371674515	p.Gly14Val	missense variant	-	NC_000021.9:g.43072153C>A	gnomAD
rs750850447	p.Cys15Phe	missense variant	-	NC_000021.9:g.43072150C>A	ExAC,gnomAD
rs768172160	p.His17Leu	missense variant	-	NC_000021.9:g.43072144T>A	ExAC
rs201827340	p.Arg18Ser	missense variant	-	NC_000021.9:g.43072142G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755850396	p.Arg18His	missense variant	-	NC_000021.9:g.43072141C>T	gnomAD
rs201827340	p.Arg18Cys	missense variant	-	NC_000021.9:g.43072142G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201827340	p.Arg18Cys	missense variant	-	NC_000021.9:g.43072142G>A	UniProt,dbSNP
VAR_046921	p.Arg18Cys	missense variant	-	NC_000021.9:g.43072142G>A	UniProt
RCV000251012	p.Arg18Cys	missense variant	-	NC_000021.9:g.43072142G>A	ClinVar
rs764399291	p.Ser19Leu	missense variant	-	NC_000021.9:g.43072138G>A	ExAC,gnomAD
RCV000197426	p.His22Arg	missense variant	-	NC_000021.9:g.43072129T>C	ClinVar
rs763151207	p.His22Arg	missense variant	-	NC_000021.9:g.43072129T>C	ExAC,TOPMed,gnomAD
RCV000648122	p.His22Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072129T>C	ClinVar
rs1378750597	p.Ser23Thr	missense variant	-	NC_000021.9:g.43072127A>T	gnomAD
rs775785018	p.Ser23Leu	missense variant	-	NC_000021.9:g.43072126G>A	ExAC,TOPMed,gnomAD
rs759682004	p.Ala24Val	missense variant	-	NC_000021.9:g.43072123G>A	ExAC,gnomAD
rs1484147890	p.Lys25Asn	missense variant	-	NC_000021.9:g.43072119C>A	gnomAD
rs746782366	p.Gly26Glu	missense variant	-	NC_000021.9:g.43072117C>T	ExAC,TOPMed,gnomAD
rs746782366	p.Gly26Ala	missense variant	-	NC_000021.9:g.43072117C>G	ExAC,TOPMed,gnomAD
rs771748290	p.Ser27Ile	missense variant	-	NC_000021.9:g.43072114C>A	ExAC,gnomAD
rs530296903	p.Ser27Arg	missense variant	-	NC_000021.9:g.43072113G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771748290	p.Ser27Asn	missense variant	-	NC_000021.9:g.43072114C>T	ExAC,gnomAD
rs778653743	p.Glu29Lys	missense variant	-	NC_000021.9:g.43072109C>T	ExAC
rs1226779462	p.Gly31Glu	missense variant	-	NC_000021.9:g.43072102C>T	gnomAD
rs753430439	p.Ser32Pro	missense variant	-	NC_000021.9:g.43072100A>G	ExAC,gnomAD
rs563211474	p.Pro33Ser	missense variant	-	NC_000021.9:g.43072097G>A	1000Genomes,ExAC,gnomAD
rs757899237	p.Glu34Gly	missense variant	-	NC_000021.9:g.43072093T>C	ExAC,gnomAD
rs368471318	p.Asp35Tyr	missense variant	-	NC_000021.9:g.43072091C>A	ESP,ExAC,TOPMed,gnomAD
rs368471318	p.Asp35Asn	missense variant	-	NC_000021.9:g.43072091C>T	ESP,ExAC,TOPMed,gnomAD
rs904453895	p.Lys36Glu	missense variant	-	NC_000021.9:g.43072088T>C	TOPMed,gnomAD
RCV000617634	p.Lys36Glu	missense variant	-	NC_000021.9:g.43072088T>C	ClinVar
rs1064795253	p.Ala38Pro	missense variant	-	NC_000021.9:g.43072082C>G	gnomAD
rs1064795253	p.Ala38Thr	missense variant	-	NC_000021.9:g.43072082C>T	gnomAD
RCV000483422	p.Ala38Thr	missense variant	-	NC_000021.9:g.43072082C>T	ClinVar
rs764487170	p.Glu40Asp	missense variant	-	NC_000021.9:g.43072074C>A	ExAC,gnomAD
rs763389870	p.Pro41Ser	missense variant	-	NC_000021.9:g.43072073G>A	ExAC,gnomAD
rs1315746924	p.Pro41Leu	missense variant	-	NC_000021.9:g.43072072G>A	gnomAD
rs1375321603	p.Trp43Cys	missense variant	-	NC_000021.9:g.43072065C>A	gnomAD
rs1334019279	p.Ile44Met	missense variant	-	NC_000021.9:g.43072062G>C	gnomAD
RCV000620035	p.Arg45Gln	missense variant	-	NC_000021.9:g.43072060C>T	ClinVar
rs201372812	p.Arg45Trp	missense variant	-	NC_000021.9:g.43072061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759502207	p.Arg45Gln	missense variant	-	NC_000021.9:g.43072060C>T	ExAC,TOPMed,gnomAD
RCV000229516	p.Arg45Gln	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072060C>T	ClinVar
RCV000198945	p.Arg45Trp	missense variant	-	NC_000021.9:g.43072061G>A	ClinVar
rs148865119	p.Pro49Leu	missense variant	-	NC_000021.9:g.43072048G>A	ESP,ExAC,TOPMed,gnomAD
rs148865119	p.Pro49Arg	missense variant	-	NC_000021.9:g.43072048G>C	ESP,ExAC,TOPMed,gnomAD
RCV000242293	p.Pro49Leu	missense variant	-	NC_000021.9:g.43072048G>A	ClinVar
RCV000486724	p.Arg51Lys	missense variant	-	NC_000021.9:g.43072042C>T	ClinVar
rs370983323	p.Arg51Lys	missense variant	-	NC_000021.9:g.43072042C>T	ESP,ExAC,gnomAD
rs748795053	p.Arg51Ser	missense variant	-	NC_000021.9:g.43072041C>A	ExAC,gnomAD
RCV000674825	p.Arg51Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072033_43072045del	ClinVar
rs779777933	p.Cys52Tyr	missense variant	-	NC_000021.9:g.43072039C>T	ExAC,gnomAD
RCV000648117	p.Cys52Tyr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072039C>T	ClinVar
rs199948079	p.Trp54Ter	stop gained	-	NC_000021.9:g.43072032C>T	-
RCV000409663	p.Trp54Ter	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072032C>T	ClinVar
rs1292304665	p.Gln55Lys	missense variant	-	NC_000021.9:g.43072031G>T	gnomAD
rs1180472259	p.Leu56Pro	missense variant	-	NC_000021.9:g.43072027A>G	gnomAD
rs1480938544	p.Gly57Ser	missense variant	-	NC_000021.9:g.43072025C>T	gnomAD
rs555959266	p.Arg58Trp	missense variant	-	NC_000021.9:g.43072022G>A	ExAC,gnomAD
rs555959266	p.Arg58Trp	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt,dbSNP
VAR_008050	p.Arg58Trp	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt
rs758648251	p.Arg58Gln	missense variant	-	NC_000021.9:g.43072021C>T	ExAC,gnomAD
rs376496085	p.Pro59Ser	missense variant	-	NC_000021.9:g.43072019G>A	ESP,ExAC,gnomAD
rs765352771	p.Ala60Val	missense variant	-	NC_000021.9:g.43072015G>A	ExAC,gnomAD
rs1392721766	p.Ser61Pro	missense variant	-	NC_000021.9:g.43072013A>G	gnomAD
rs199507134	p.Glu62Lys	missense variant	-	NC_000021.9:g.43072010C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1191141364	p.His65Arg	missense variant	-	NC_000021.9:g.43072000T>C	gnomAD
rs1248573959	p.His67Tyr	missense variant	-	NC_000021.9:g.43071995G>A	gnomAD
rs760770298	p.Thr68Ile	missense variant	-	NC_000021.9:g.43071991G>A	ExAC,gnomAD
rs17849313	p.Ala69Pro	missense variant	-	NC_000021.9:g.43071989C>G	UniProt,dbSNP
VAR_046922	p.Ala69Pro	missense variant	-	NC_000021.9:g.43071989C>G	UniProt
rs17849313	p.Ala69Pro	missense variant	-	NC_000021.9:g.43071989C>G	-
rs2229413	p.Pro70Arg	missense variant	-	NC_000021.9:g.43071985G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs2229413	p.Pro70Leu	missense variant	-	NC_000021.9:g.43071985G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000199276	p.Pro70Leu	missense variant	-	NC_000021.9:g.43071985G>A	ClinVar
rs761878715	p.Ala71Glu	missense variant	-	NC_000021.9:g.43068613G>T	ExAC,gnomAD
rs761878715	p.Ala71Val	missense variant	-	NC_000021.9:g.43068613G>A	ExAC,gnomAD
rs192232907	p.Lys72Ile	missense variant	-	NC_000021.9:g.43068610T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000547149	p.Lys72Ile	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068610T>A	ClinVar
rs763892068	p.Ser73Cys	missense variant	-	NC_000021.9:g.43068607G>C	ExAC,gnomAD
rs1170538361	p.Pro74Ser	missense variant	-	NC_000021.9:g.43068605G>A	gnomAD
rs762862715	p.Pro74Leu	missense variant	-	NC_000021.9:g.43068604G>A	ExAC,TOPMed,gnomAD
RCV000621470	p.Pro74Leu	missense variant	-	NC_000021.9:g.43068604G>A	ClinVar
rs552179536	p.Lys75Asn	missense variant	-	NC_000021.9:g.43068600T>A	1000Genomes,ExAC,gnomAD
rs786204608	p.Pro78Arg	missense variant	-	NC_000021.9:g.43068592G>C	gnomAD
rs786204608	p.Pro78Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt,dbSNP
VAR_002171	p.Pro78Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt
RCV000169367	p.Pro78Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068592G>C	ClinVar
rs769608918	p.Ile80Val	missense variant	-	NC_000021.9:g.43068587T>C	ExAC,gnomAD
rs1480481730	p.Leu81Val	missense variant	-	NC_000021.9:g.43068584G>C	TOPMed
rs71322504	p.Lys82Asn	missense variant	-	NC_000021.9:g.43068579C>A	ExAC,gnomAD
rs71322504	p.Lys82Asn	missense variant	-	NC_000021.9:g.43068579C>G	ExAC,gnomAD
rs863223435	p.Gly85Arg	missense variant	-	NC_000021.9:g.43068572C>T	gnomAD
RCV000195506	p.Gly85Arg	missense variant	-	NC_000021.9:g.43068572C>T	ClinVar
rs776259258	p.Asp86Asn	missense variant	-	NC_000021.9:g.43068569C>T	ExAC,gnomAD
rs1239864776	p.Thr87Ile	missense variant	-	NC_000021.9:g.43068565G>A	gnomAD
VAR_074590	p.Thr87Asn	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
COSM3551230	p.Pro88Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.43068562G>A	NCI-TCGA Cosmic
VAR_002172	p.Pro88Ser	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs772450760	p.Met89Lys	missense variant	-	NC_000021.9:g.43068559A>T	ExAC,gnomAD
rs748617584	p.Met89Ile	missense variant	-	NC_000021.9:g.43068558C>A	ExAC,gnomAD
rs779297627	p.Lys94Asn	missense variant	-	NC_000021.9:g.43068543C>G	ExAC,TOPMed,gnomAD
rs1347662650	p.Ile95Thr	missense variant	-	NC_000021.9:g.43068541A>G	TOPMed,gnomAD
rs1347662650	p.Ile95Asn	missense variant	-	NC_000021.9:g.43068541A>T	TOPMed,gnomAD
RCV000557426	p.Ile95Thr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068541A>G	ClinVar
rs112029370	p.Phe99Tyr	missense variant	-	NC_000021.9:g.43068529A>T	ESP,ExAC,TOPMed,gnomAD
rs749697783	p.Phe99Leu	missense variant	-	NC_000021.9:g.43068528G>C	ExAC,TOPMed,gnomAD
rs112029370	p.Phe99Ser	missense variant	-	NC_000021.9:g.43068529A>G	ESP,ExAC,TOPMed,gnomAD
RCV000459701	p.Phe99Tyr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068529A>T	ClinVar
RCV000497848	p.Phe99Tyr	missense variant	-	NC_000021.9:g.43068529A>T	ClinVar
RCV000229409	p.Phe99Leu	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068528G>C	ClinVar
rs1310019343	p.Gly100Ser	missense variant	-	NC_000021.9:g.43068527C>T	TOPMed,gnomAD
RCV000310277	p.Leu101Val	missense variant	Homocystinuria	NC_000021.9:g.43068524G>C	ClinVar
rs369644531	p.Leu101Val	missense variant	-	NC_000021.9:g.43068524G>C	ESP,ExAC,TOPMed,gnomAD
RCV000169617	p.Leu101Pro	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068523A>G	ClinVar
rs786204757	p.Leu101Pro	missense variant	-	NC_000021.9:g.43068523A>G	TOPMed
rs786204757	p.Leu101Pro	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt,dbSNP
VAR_021791	p.Leu101Pro	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt
RCV000394063	p.Lys102Gln	missense variant	Homocystinuria	NC_000021.9:g.43068521T>G	ClinVar
rs34040148	p.Lys102Gln	missense variant	-	NC_000021.9:g.43068521T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs786204609	p.Lys102Asn	missense variant	-	NC_000021.9:g.43068519C>G	gnomAD
rs786204609	p.Lys102Asn	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt,dbSNP
VAR_002173	p.Lys102Asn	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt
RCV000169368	p.Lys102Asn	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068519C>G	ClinVar
rs778220779	p.Cys109Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt,dbSNP
VAR_021792	p.Cys109Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt
rs778220779	p.Cys109Arg	missense variant	-	NC_000021.9:g.43066369A>G	TOPMed,gnomAD
RCV000535881	p.Cys109Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066369A>G	ClinVar
rs377708532	p.Ala114Thr	missense variant	-	NC_000021.9:g.43066354C>T	ExAC,gnomAD
RCV000493781	p.Ala114Thr	missense variant	-	NC_000021.9:g.43066354C>T	ClinVar
rs121964964	p.Ala114Gly	missense variant	-	NC_000021.9:g.43066353G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121964964	p.Ala114Val	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt,dbSNP
VAR_002174	p.Ala114Val	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt
rs121964964	p.Ala114Val	missense variant	-	NC_000021.9:g.43066353G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377708532	p.Ala114Ser	missense variant	-	NC_000021.9:g.43066354C>A	ExAC,gnomAD
RCV000490533	p.Ala114Val	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066353G>A	ClinVar
rs760214620	p.Gly116Arg	missense variant	-	NC_000021.9:g.43066348C>T	ExAC,gnomAD
rs760214620	p.Gly116Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt,dbSNP
VAR_008053	p.Gly116Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt
RCV000169116	p.Gly116Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066348C>T	ClinVar
rs772768738	p.Ser117Ile	missense variant	-	NC_000021.9:g.43066344C>A	ExAC,gnomAD
rs763385546	p.Val118Met	missense variant	-	NC_000021.9:g.43066342C>T	ExAC,gnomAD
RCV000368495	p.Val118Met	missense variant	Homocystinuria	NC_000021.9:g.43066342C>T	ClinVar
rs1251292223	p.Asp120Asn	missense variant	-	NC_000021.9:g.43066336C>T	gnomAD
rs770095972	p.Arg121Leu	missense variant	-	NC_000021.9:g.43066332C>A	ExAC,TOPMed,gnomAD
rs775992753	p.Arg121Cys	missense variant	-	NC_000021.9:g.43066333G>A	ExAC,gnomAD
rs775992753	p.Arg121Cys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt,dbSNP
VAR_008054	p.Arg121Cys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt
RCV000196859	p.Arg121Cys	missense variant	-	NC_000021.9:g.43066333G>A	ClinVar
rs770095972	p.Arg121His	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt,dbSNP
VAR_008055	p.Arg121His	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt
rs770095972	p.Arg121Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt,dbSNP
VAR_008056	p.Arg121Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt
rs770095972	p.Arg121His	missense variant	-	NC_000021.9:g.43066332C>T	ExAC,TOPMed,gnomAD
RCV000169322	p.Arg121His	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>T	ClinVar
RCV000190373	p.Arg121Leu	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>A	ClinVar
rs1555875387	p.Ser123Arg	missense variant	-	NC_000021.9:g.43066325G>T	-
RCV000550221	p.Ser123Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066325G>T	ClinVar
rs746251495	p.Leu124Arg	missense variant	-	NC_000021.9:g.43066323A>C	ExAC,gnomAD
rs886057100	p.Arg125Trp	missense variant	-	NC_000021.9:g.43066321G>A	gnomAD
rs781444670	p.Arg125Gln	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt,dbSNP
VAR_002175	p.Arg125Gln	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt
rs781444670	p.Arg125Gln	missense variant	-	NC_000021.9:g.43066320C>T	ExAC,TOPMed,gnomAD
RCV000178709	p.Arg125Gln	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320C>T	ClinVar
RCV000667483	p.Arg125Trp	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066321G>A	ClinVar
VAR_046923	p.Arg125Pro	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
RCV000669819	p.Met126Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320_43066323dup	ClinVar
VAR_008058	p.Met126Val	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs771108045	p.Ile127Thr	missense variant	-	NC_000021.9:g.43066314A>G	ExAC,gnomAD
rs892948151	p.Ile127Val	missense variant	-	NC_000021.9:g.43066315T>C	TOPMed,gnomAD
rs374593242	p.Glu128Asp	missense variant	-	NC_000021.9:g.43066310C>G	ExAC,gnomAD
rs1308193541	p.Glu128Lys	missense variant	-	NC_000021.9:g.43066312C>T	gnomAD
COSM3551228	p.Asp129Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.43066309C>T	NCI-TCGA Cosmic
rs1373078731	p.Asp129Val	missense variant	-	NC_000021.9:g.43066308T>A	gnomAD
rs1301672360	p.Ala130Val	missense variant	-	NC_000021.9:g.43066305G>A	gnomAD
RCV000622233	p.Ala130Val	missense variant	-	NC_000021.9:g.43066305G>A	ClinVar
rs1555875351	p.Glu131Asp	missense variant	-	NC_000021.9:g.43066301C>G	-
rs1555875351	p.Glu131Asp	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt,dbSNP
VAR_002176	p.Glu131Asp	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt
rs1360154930	p.Glu131Lys	missense variant	-	NC_000021.9:g.43066303C>T	gnomAD
RCV000534364	p.Glu131Asp	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066301C>G	ClinVar
rs779011920	p.Arg132His	missense variant	-	NC_000021.9:g.43066299C>T	ExAC,TOPMed,gnomAD
RCV000726351	p.Arg132Cys	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
rs140002610	p.Arg132Cys	missense variant	-	NC_000021.9:g.43066300G>A	ESP,ExAC,TOPMed,gnomAD
rs140002610	p.Arg132Ser	missense variant	-	NC_000021.9:g.43066300G>T	ESP,ExAC,TOPMed,gnomAD
RCV000460928	p.Arg132Cys	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066300G>A	ClinVar
RCV000620847	p.Arg132Cys	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
RCV000462847	p.Arg132His	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066299C>T	ClinVar
RCV000247887	p.Arg132Ser	missense variant	-	NC_000021.9:g.43066300G>T	ClinVar
RCV000195820	p.Arg132Cys	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
RCV000198043	p.Asp133Asn	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
RCV000243532	p.Asp133Asn	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
rs539326697	p.Asp133Asn	missense variant	-	NC_000021.9:g.43066297C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766958673	p.Gly134Ala	missense variant	-	NC_000021.9:g.43066293C>G	ExAC,TOPMed,gnomAD
RCV000196511	p.Gly134Arg	missense variant	-	NC_000021.9:g.43066294C>T	ClinVar
RCV000198867	p.Gly134Ala	missense variant	-	NC_000021.9:g.43066293C>G	ClinVar
rs766958673	p.Gly134Glu	missense variant	-	NC_000021.9:g.43066293C>T	ExAC,TOPMed,gnomAD
rs147474549	p.Gly134Arg	missense variant	-	NC_000021.9:g.43066294C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000469139	p.Gly134Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>T	ClinVar
RCV000648115	p.Gly134Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>G	ClinVar
rs147474549	p.Gly134Arg	missense variant	-	NC_000021.9:g.43066294C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000549296	p.Thr135Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290G>A	ClinVar
RCV000674577	p.Thr135Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290_43066291delinsC	ClinVar
rs144832032	p.Thr135Met	missense variant	-	NC_000021.9:g.43066290G>A	ESP,ExAC,TOPMed,gnomAD
RCV000411736	p.Thr135Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294del	ClinVar
rs775937459	p.Leu136Pro	missense variant	-	NC_000021.9:g.43066287A>G	ExAC,gnomAD
rs765702034	p.Pro138Ala	missense variant	-	NC_000021.9:g.43066282G>C	ExAC,TOPMed,gnomAD
rs765702034	p.Pro138Ser	missense variant	-	NC_000021.9:g.43066282G>A	ExAC,TOPMed,gnomAD
RCV000000143	p.Gly139Arg	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066279C>T	ClinVar
rs121964965	p.Gly139Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt,dbSNP
VAR_008060	p.Gly139Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt
rs121964965	p.Gly139Arg	missense variant	-	NC_000021.9:g.43066279C>T	ESP,ExAC,TOPMed,gnomAD
rs771178320	p.Thr141Met	missense variant	-	NC_000021.9:g.43066272G>A	ExAC,gnomAD
rs772225410	p.Ile143Thr	missense variant	-	NC_000021.9:g.43066266A>G	ExAC,gnomAD
rs370167302	p.Ile143Met	missense variant	-	NC_000021.9:g.43066265G>C	ExAC,TOPMed,gnomAD
rs370167302	p.Ile143Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt,dbSNP
VAR_021793	p.Ile143Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt
rs121964966	p.Glu144Lys	missense variant	-	NC_000021.9:g.43066264C>T	ExAC,TOPMed,gnomAD
rs121964966	p.Glu144Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt,dbSNP
VAR_002177	p.Glu144Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt
rs121964966	p.Glu144Gln	missense variant	-	NC_000021.9:g.43066264C>G	ExAC,TOPMed,gnomAD
RCV000169074	p.Glu144Lys	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>T	ClinVar
RCV000538588	p.Glu144Gln	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>G	ClinVar
rs121964963	p.Pro145Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt,dbSNP
VAR_002178	p.Pro145Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt
rs121964963	p.Pro145Leu	missense variant	-	NC_000021.9:g.43066260G>A	gnomAD
RCV000000139	p.Pro145Leu	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066260G>A	ClinVar
rs1458998509	p.Thr146Ile	missense variant	-	NC_000021.9:g.43066257G>A	gnomAD
RCV000411624	p.Gly148Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066252C>T	ClinVar
rs755952006	p.Gly148Arg	missense variant	-	NC_000021.9:g.43066252C>T	ExAC,TOPMed,gnomAD
rs373782713	p.Gly151Trp	missense variant	-	NC_000021.9:g.43066243C>A	ESP,ExAC,TOPMed,gnomAD
rs373782713	p.Gly151Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt,dbSNP
VAR_008062	p.Gly151Arg	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt
rs373782713	p.Gly151Arg	missense variant	-	NC_000021.9:g.43066243C>T	ESP,ExAC,TOPMed,gnomAD
VAR_008063	p.Gly151_Ala159del	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
VAR_008064	p.Ile152Met	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs745704046	p.Gly153Arg	missense variant	-	NC_000021.9:g.43065690C>T	ExAC,gnomAD
VAR_046924	p.Leu154Gln	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1429138569	p.Ala155Thr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt,dbSNP
VAR_008065	p.Ala155Thr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt
rs1429138569	p.Ala155Thr	missense variant	-	NC_000021.9:g.43065684C>T	gnomAD
VAR_046925	p.Ala155Val	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs780799772	p.Leu156Pro	missense variant	-	NC_000021.9:g.43065680A>G	ExAC,gnomAD
RCV000412346	p.Leu156Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065680del	ClinVar
rs199817801	p.Ala157Thr	missense variant	-	NC_000021.9:g.43065678C>T	1000Genomes,gnomAD
RCV000527354	p.Ala157Thr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065678C>T	ClinVar
RCV000242064	p.Ala157Thr	missense variant	-	NC_000021.9:g.43065678C>T	ClinVar
rs1376851289	p.Ala158Glu	missense variant	-	NC_000021.9:g.43065674G>T	gnomAD
rs1376851289	p.Ala158Val	missense variant	-	NC_000021.9:g.43065674G>A	gnomAD
rs1452995855	p.Ala159Thr	missense variant	-	NC_000021.9:g.43065672C>T	gnomAD
rs751064748	p.Gly162Ser	missense variant	-	NC_000021.9:g.43065663C>T	ExAC
rs757935417	p.Arg164His	missense variant	-	NC_000021.9:g.43065656C>T	ExAC,TOPMed,gnomAD
rs1216829353	p.Arg164Cys	missense variant	-	NC_000021.9:g.43065657G>A	gnomAD
rs1234354755	p.Cys165Ser	missense variant	-	NC_000021.9:g.43065654A>T	gnomAD
RCV000587735	p.Cys165Tyr	missense variant	Homocystinuria	NC_000021.9:g.43065653C>T	ClinVar
RCV000704014	p.Cys165Gly	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065654A>C	ClinVar
rs1347651454	p.Cys165Tyr	missense variant	-	NC_000021.9:g.43065653C>T	gnomAD
RCV000801652	p.Cys165Tyr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065653C>T	ClinVar
RCV000619758	p.Cys165Tyr	missense variant	-	NC_000021.9:g.43065653C>T	ClinVar
rs754246295	p.Ile167Met	missense variant	-	NC_000021.9:g.43065646G>C	ExAC,TOPMed,gnomAD
rs121964970	p.Val168Leu	missense variant	-	NC_000021.9:g.43065645C>A	ExAC,TOPMed,gnomAD
rs121964970	p.Val168Met	missense variant	-	NC_000021.9:g.43065645C>T	ExAC,TOPMed,gnomAD
RCV000250042	p.Val168Met	missense variant	-	NC_000021.9:g.43065645C>T	ClinVar
rs121964970	p.Val168Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt,dbSNP
VAR_002180	p.Val168Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt
RCV000000150	p.Val168Met	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43065645C>T	ClinVar
VAR_046926	p.Val168Ala	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1371228792	p.Met169Leu	missense variant	-	NC_000021.9:g.43065642T>A	gnomAD
rs750879576	p.Met173Ile	missense variant	-	NC_000021.9:g.43065628C>T	ExAC,gnomAD
VAR_066098	p.Met173del	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
VAR_046927	p.Met173Val	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1172978385	p.Ser174Asn	missense variant	-	NC_000021.9:g.43065626C>T	gnomAD
rs762065361	p.Glu176Ter	stop gained	-	NC_000021.9:g.43065621C>A	ExAC,gnomAD
rs762065361	p.Glu176Lys	missense variant	-	NC_000021.9:g.43065621C>T	ExAC,gnomAD
rs762065361	p.Glu176Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt,dbSNP
VAR_008066	p.Glu176Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt
RCV000781199	p.Glu176Lys	missense variant	Homocystinuria	NC_000021.9:g.43065621C>T	ClinVar
rs1472673650	p.Lys177Thr	missense variant	-	NC_000021.9:g.43065617T>G	gnomAD
RCV000478922	p.Lys177Asn	missense variant	-	NC_000021.9:g.43065616C>G	ClinVar
rs1064795022	p.Lys177Asn	missense variant	-	NC_000021.9:g.43065616C>G	gnomAD
rs370843514	p.Val178Leu	missense variant	-	NC_000021.9:g.43065521C>G	ESP,gnomAD
rs370843514	p.Val178Met	missense variant	-	NC_000021.9:g.43065521C>T	ESP,gnomAD
RCV000279590	p.Val178Met	missense variant	Homocystinuria	NC_000021.9:g.43065521C>T	ClinVar
rs1555875010	p.Val180Ala	missense variant	-	NC_000021.9:g.43065514A>G	-
rs1555875010	p.Val180Ala	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt,dbSNP
VAR_008067	p.Val180Ala	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt
RCV000672889	p.Val180Ala	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065514A>G	ClinVar
rs759402521	p.Val180Met	missense variant	-	NC_000021.9:g.43065515C>T	ExAC,gnomAD
rs138314784	p.Arg182Gln	missense variant	-	NC_000021.9:g.43065508C>T	ESP,ExAC,gnomAD
rs149649130	p.Arg182Trp	missense variant	-	NC_000021.9:g.43065509G>A	ESP,ExAC,TOPMed,gnomAD
rs772705832	p.Ala183Thr	missense variant	-	NC_000021.9:g.43065506C>T	ExAC,gnomAD
rs374464810	p.Ala183Val	missense variant	-	NC_000021.9:g.43065505G>A	ESP,TOPMed,gnomAD
rs374464810	p.Ala183Gly	missense variant	-	NC_000021.9:g.43065505G>C	ESP,TOPMed,gnomAD
RCV000541664	p.Ala183Val	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065505G>A	ClinVar
RCV000251610	p.Ala183Val	missense variant	-	NC_000021.9:g.43065505G>A	ClinVar
rs1435269264	p.Glu187Gly	missense variant	-	NC_000021.9:g.43065493T>C	gnomAD
rs121964973	p.Thr191Lys	missense variant	-	NC_000021.9:g.43065481G>T	TOPMed,gnomAD
RCV000195441	p.Thr191Met	missense variant	-	NC_000021.9:g.43065481G>A	ClinVar
RCV000497733	p.Thr191Lys	missense variant	-	NC_000021.9:g.43065481G>T	ClinVar
RCV000589097	p.Thr191Met	missense variant	Homocystinuria	NC_000021.9:g.43065481G>A	ClinVar
RCV000576767	p.Thr191Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065481G>A	ClinVar
RCV000000155	p.Thr191Met	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43065481G>A	ClinVar
rs121964973	p.Thr191Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt,dbSNP
VAR_008068	p.Thr191Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt
rs121964973	p.Thr191Met	missense variant	-	NC_000021.9:g.43065481G>A	TOPMed,gnomAD
rs754553273	p.Pro192Leu	missense variant	-	NC_000021.9:g.43065478G>A	ExAC,gnomAD
rs911670352	p.Asn194Ser	missense variant	-	NC_000021.9:g.43065472T>C	TOPMed,gnomAD
rs370089875	p.Asn194Asp	missense variant	-	NC_000021.9:g.43065473T>C	ESP,ExAC,gnomAD
rs555751528	p.Arg196Ser	missense variant	-	NC_000021.9:g.43065465C>G	1000Genomes,ExAC,gnomAD
rs537027536	p.Asp198Asn	missense variant	-	NC_000021.9:g.43065461C>T	1000Genomes,ExAC,gnomAD
VAR_008069	p.Asp198Val	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
COSM3551224	p.Ser199Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.43065457G>A	NCI-TCGA Cosmic
rs758712880	p.Pro200Leu	missense variant	-	NC_000021.9:g.43065454G>A	ExAC,TOPMed,gnomAD
rs758712880	p.Pro200Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt,dbSNP
VAR_066099	p.Pro200Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt
rs372679328	p.Val204Met	missense variant	-	NC_000021.9:g.43065443C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000197936	p.Val204Met	missense variant	-	NC_000021.9:g.43065443C>T	ClinVar
rs1367873681	p.Gly205Glu	missense variant	-	NC_000021.9:g.43065439C>T	gnomAD
RCV000200147	p.Val206Met	missense variant	-	NC_000021.9:g.43065437C>T	ClinVar
rs1369398275	p.Val206Ala	missense variant	-	NC_000021.9:g.43065436A>G	gnomAD
rs369220569	p.Val206Met	missense variant	-	NC_000021.9:g.43065437C>T	ESP,ExAC,TOPMed,gnomAD
RCV000648123	p.Val206Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065437C>T	ClinVar
rs1462927996	p.Ala207Thr	missense variant	-	NC_000021.9:g.43065434C>T	gnomAD
rs774174074	p.Trp208Cys	missense variant	-	NC_000021.9:g.43065429C>A	ExAC,TOPMed,gnomAD
rs1060500683	p.Trp208Arg	missense variant	-	NC_000021.9:g.43065431A>G	TOPMed,gnomAD
rs774174074	p.Trp208Ter	stop gained	-	NC_000021.9:g.43065429C>T	ExAC,TOPMed,gnomAD
RCV000786286	p.Trp208Arg	missense variant	-	NC_000021.9:g.43065431A>G	ClinVar
RCV000457277	p.Trp208Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065431A>G	ClinVar
rs781759129	p.Arg209Gln	missense variant	-	NC_000021.9:g.43065427C>T	ExAC,gnomAD
rs137939628	p.Arg209Trp	missense variant	-	NC_000021.9:g.43065428G>A	ESP,ExAC,TOPMed,gnomAD
rs201118737	p.Lys211Arg	missense variant	-	NC_000021.9:g.43065421T>C	1000Genomes,ExAC,gnomAD
rs2298758	p.Asn212Lys	missense variant	-	NC_000021.9:g.43065417G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000196277	p.Asn212Lys	missense variant	-	NC_000021.9:g.43065417G>C	ClinVar
rs1481588195	p.Glu213Gly	missense variant	-	NC_000021.9:g.43065415T>C	TOPMed,gnomAD
rs758703098	p.Glu213Lys	missense variant	-	NC_000021.9:g.43065416C>T	ExAC,TOPMed,gnomAD
rs1034007575	p.Pro215Leu	missense variant	-	NC_000021.9:g.43065409G>A	TOPMed
rs765471315	p.Pro215Ser	missense variant	-	NC_000021.9:g.43065410G>A	ExAC,gnomAD
rs755015303	p.Asn216Ser	missense variant	-	NC_000021.9:g.43065406T>C	ExAC,gnomAD
rs1555874874	p.Ser217Phe	missense variant	-	NC_000021.9:g.43065403G>A	-
RCV000673555	p.Ser217Phe	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065403G>A	ClinVar
rs1264692707	p.Ile219Thr	missense variant	-	NC_000021.9:g.43065397A>G	gnomAD
RCV000778918	p.Gln222Ter	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065389G>A	ClinVar
rs1455474151	p.Tyr223Asp	missense variant	-	NC_000021.9:g.43065272A>C	gnomAD
rs761647392	p.Arg224Leu	missense variant	-	NC_000021.9:g.43065268C>A	ExAC,gnomAD
RCV000556147	p.Arg224Cys	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065269G>A	ClinVar
rs761647392	p.Arg224His	missense variant	-	NC_000021.9:g.43065268C>T	ExAC,gnomAD
rs761647392	p.Arg224His	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt,dbSNP
VAR_002181	p.Arg224His	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt
rs139456571	p.Arg224Cys	missense variant	-	NC_000021.9:g.43065269G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000243693	p.Arg224Cys	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
RCV000726462	p.Arg224Cys	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
rs763835246	p.Ala226Thr	missense variant	-	NC_000021.9:g.43065263C>T	ExAC,gnomAD
rs763835246	p.Ala226Pro	missense variant	-	NC_000021.9:g.43065263C>G	ExAC,gnomAD
RCV000412334	p.Ala226Thr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065263C>T	ClinVar
rs1555874803	p.Asn228Ser	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt,dbSNP
VAR_046928	p.Asn228Ser	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt
rs1555874803	p.Asn228Ser	missense variant	-	NC_000021.9:g.43065256T>C	-
RCV000669206	p.Asn228Ser	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065256T>C	ClinVar
rs1464223176	p.Asn228Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt,dbSNP
VAR_021794	p.Asn228Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt
rs1464223176	p.Asn228Lys	missense variant	-	NC_000021.9:g.43065255G>C	TOPMed,gnomAD
rs775293525	p.Pro229Arg	missense variant	-	NC_000021.9:g.43065253G>C	ExAC,TOPMed,gnomAD
rs375730175	p.Pro229Thr	missense variant	-	NC_000021.9:g.43065254G>T	ESP,ExAC,gnomAD
RCV000169175	p.Leu230Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065250del	ClinVar
RCV000198642	p.Leu230Ter	frameshift	-	NC_000021.9:g.43065250del	ClinVar
rs1411597530	p.Leu230Gln	missense variant	-	NC_000021.9:g.43065250A>T	TOPMed
NCI-TCGA novel	p.Ala231Thr	missense variant	-	NC_000021.9:g.43065248C>T	NCI-TCGA
VAR_046929	p.Ala231Pro	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs773734233	p.Asp234Asn	missense variant	-	NC_000021.9:g.43065239C>T	ExAC,TOPMed,gnomAD
RCV000586183	p.Asp234Asn	missense variant	Homocystinuria	NC_000021.9:g.43065239C>T	ClinVar
RCV000199941	p.Asp234Asn	missense variant	-	NC_000021.9:g.43065239C>T	ClinVar
VAR_046930	p.Asp234del	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs981981270	p.Thr236Ile	missense variant	-	NC_000021.9:g.43065232G>A	TOPMed
RCV000409103	p.Thr236Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065231_43065232delinsCACC	ClinVar
rs1226723382	p.Ala237Thr	missense variant	-	NC_000021.9:g.43065230C>T	gnomAD
RCV000688536	p.Ala237Val	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065229G>A	ClinVar
rs1364919198	p.Asp238Ala	missense variant	-	NC_000021.9:g.43065226T>G	gnomAD
VAR_002182	p.Glu239Lys	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1388788227	p.Gln242His	missense variant	-	NC_000021.9:g.43065213C>A	gnomAD
rs749466749	p.Gln243His	missense variant	-	NC_000021.9:g.43065210C>G	ExAC,gnomAD
rs1441519122	p.Gly246Glu	missense variant	-	NC_000021.9:g.43063991C>T	gnomAD
VAR_046931	p.Lys247_Gly256del	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs767397847	p.Asp249Asn	missense variant	-	NC_000021.9:g.43063983C>T	gnomAD
rs863223431	p.Met250Ile	missense variant	-	NC_000021.9:g.43063978C>T	gnomAD
rs1555874564	p.Met250Lys	missense variant	-	NC_000021.9:g.43063979A>T	-
rs777884368	p.Met250Leu	missense variant	-	NC_000021.9:g.43063980T>A	ExAC,TOPMed,gnomAD
RCV000648121	p.Met250Lys	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063979A>T	ClinVar
RCV000800742	p.Met250Ile	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063978C>T	ClinVar
RCV000198250	p.Met250Ile	missense variant	-	NC_000021.9:g.43063978C>T	ClinVar
rs863223431	p.Met250Ile	missense variant	-	NC_000021.9:g.43063978C>G	gnomAD
rs1176770868	p.Leu251Pro	missense variant	-	NC_000021.9:g.43063976A>G	gnomAD
RCV000671309	p.Leu251Pro	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063976A>G	ClinVar
rs1470764055	p.Ser254Pro	missense variant	-	NC_000021.9:g.43063968A>G	gnomAD
rs1409259346	p.Val255Gly	missense variant	-	NC_000021.9:g.43063964A>C	gnomAD
rs1000697114	p.Gly256Ser	missense variant	-	NC_000021.9:g.43063962C>T	TOPMed
rs1157774154	p.Gly256Val	missense variant	-	NC_000021.9:g.43063961C>A	gnomAD
rs758236584	p.Thr257Met	missense variant	-	NC_000021.9:g.43063958G>A	ExAC,TOPMed,gnomAD
RCV000169294	p.Thr257Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063958G>A	ClinVar
rs1242898623	p.Gly259Asp	missense variant	-	NC_000021.9:g.43063952C>T	gnomAD
rs143124288	p.Gly259Ser	missense variant	-	NC_000021.9:g.43063953C>T	ESP,ExAC,gnomAD
RCV000648118	p.Gly259Ser	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063953C>T	ClinVar
RCV000200469	p.Thr262Met	missense variant	-	NC_000021.9:g.43063943G>A	ClinVar
rs149119723	p.Thr262Met	missense variant	-	NC_000021.9:g.43063943G>A	ESP,ExAC,TOPMed,gnomAD
VAR_021795	p.Thr262Arg	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs760212248	p.Ile264Thr	missense variant	-	NC_000021.9:g.43063937A>G	ExAC,gnomAD
rs1351478245	p.Ala265Val	missense variant	-	NC_000021.9:g.43063934G>A	gnomAD
rs121964969	p.Arg266Lys	missense variant	-	NC_000021.9:g.43063931C>T	gnomAD
rs121964969	p.Arg266Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt,dbSNP
VAR_008074	p.Arg266Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt
RCV000469164	p.Arg266Lys	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063931C>T	ClinVar
VAR_008073	p.Arg266Gly	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
VAR_074591	p.Lys269del	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1337180584	p.Glu270Lys	missense variant	-	NC_000021.9:g.43063920C>T	gnomAD
VAR_008075	p.Glu270del	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
RCV000507871	p.Cys272Ter	nonsense	-	NC_000021.9:g.43063912A>T	ClinVar
RCV000673238	p.Cys272Ter	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063912A>T	ClinVar
rs528689432	p.Cys272Ter	stop gained	-	NC_000021.9:g.43063912A>T	-
rs1386009525	p.Pro273Leu	missense variant	-	NC_000021.9:g.43063910G>A	gnomAD
rs764638041	p.Cys275Ter	stop gained	-	NC_000021.9:g.43063903G>T	ExAC,gnomAD
VAR_021796	p.Cys275Tyr	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1400846504	p.Arg276Lys	missense variant	-	NC_000021.9:g.43063901C>T	gnomAD
rs756816076	p.Ile277Leu	missense variant	-	NC_000021.9:g.43063078T>G	ExAC
rs5742905	p.Ile278Thr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt,dbSNP
VAR_002184	p.Ile278Thr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt
rs5742905	p.Ile278Thr	missense variant	-	NC_000021.9:g.43063074A>G	1000Genomes,ESP,TOPMed
RCV000078111	p.Ile278Thr	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
RCV000781197	p.Ile278Thr	missense variant	Homocystinuria	NC_000021.9:g.43063074A>G	ClinVar
RCV000249462	p.Ile278Thr	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
RCV000173640	p.Ile278Thr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063074A>G	ClinVar
RCV000507410	p.Ile278Thr	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
RCV000000142	p.Ile278Thr	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43063074A>G	ClinVar
RCV000000141	p.Ile278Thr	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43063074A>G	ClinVar
VAR_066100	p.Ile278Ser	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
RCV000508400	p.Gly279Ter	frameshift	-	NC_000021.9:g.43063075_43063076insTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGAT	ClinVar
rs1170192852	p.Val280Ala	missense variant	-	NC_000021.9:g.43063068A>G	gnomAD
VAR_066101	p.Asp281Asn	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1555874223	p.Pro282ProSerArgTrpGlyPheCysTrpAlaTerAlaLeuLysProArgProLeuGlnIleIleGlyValAspUnk	stop gained	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	-
rs786200967	p.Pro282ProLysGlyProSerSerGlnSerArgArgSerTerThrArgArgSerArgGlnProThrArgTrpAsnUnk	stop gained	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	-
RCV000413391	p.Pro282Ser	missense variant	-	NC_000021.9:g.43063063G>A	ClinVar
rs1057518515	p.Pro282Ser	missense variant	-	NC_000021.9:g.43063063G>A	-
RCV000243626	p.Glu283SerArgTrpGlyPheCysTrpAlaTer	nonsense	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	ClinVar
rs765811825	p.Glu283Lys	missense variant	-	NC_000021.9:g.43063060C>T	ExAC,gnomAD
RCV000152935	p.Glu283LysGlyProSerSerGlnSerArgArgSerTer	nonsense	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	ClinVar
rs1480171482	p.Gly284Arg	missense variant	-	NC_000021.9:g.43063057C>T	gnomAD
rs147040567	p.Ile286Val	missense variant	-	NC_000021.9:g.43063051T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1060500681	p.Ile286Thr	missense variant	-	NC_000021.9:g.43063050A>G	-
RCV000477458	p.Ile286Thr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063050A>G	ClinVar
RCV000648120	p.Ile286Val	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063051T>C	ClinVar
RCV000731875	p.Ile286Val	missense variant	-	NC_000021.9:g.43063051T>C	ClinVar
rs141502207	p.Ala288Thr	missense variant	-	NC_000021.9:g.43063045C>T	ESP,ExAC,gnomAD
rs141502207	p.Ala288Thr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt,dbSNP
VAR_046933	p.Ala288Thr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt
rs141502207	p.Ala288Ser	missense variant	-	NC_000021.9:g.43063045C>A	ESP,ExAC,gnomAD
RCV000671575	p.Ala288Thr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063045C>T	ClinVar
VAR_046932	p.Ala288Pro	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs760912339	p.Pro290Gln	missense variant	-	NC_000021.9:g.43063038G>T	ExAC,TOPMed,gnomAD
rs760912339	p.Pro290Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt,dbSNP
VAR_002185	p.Pro290Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt
rs760912339	p.Pro290Leu	missense variant	-	NC_000021.9:g.43063038G>A	ExAC,TOPMed,gnomAD
rs201155833	p.Glu291Asp	missense variant	-	NC_000021.9:g.43063034C>A	1000Genomes,TOPMed
rs761995096	p.Glu292Lys	missense variant	-	NC_000021.9:g.43063033C>T	ExAC,gnomAD
rs774134517	p.Glu292Val	missense variant	-	NC_000021.9:g.43063032T>A	ExAC,gnomAD
rs761995096	p.Glu292Ter	stop gained	-	NC_000021.9:g.43063033C>A	ExAC,gnomAD
rs1064795178	p.Glu292Leu	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	-
RCV000482632	p.Glu292Leu	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	ClinVar
rs562885611	p.Gln295Glu	missense variant	-	NC_000021.9:g.43063024G>C	1000Genomes,TOPMed
rs562530775	p.Thr296Arg	missense variant	-	NC_000021.9:g.43063020G>C	1000Genomes,ExAC,gnomAD
rs562530775	p.Thr296Met	missense variant	-	NC_000021.9:g.43063020G>A	1000Genomes,ExAC,gnomAD
RCV000558244	p.Thr296Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063020G>A	ClinVar
rs1298089659	p.Glu297Ter	stop gained	-	NC_000021.9:g.43063018C>A	gnomAD
rs780856971	p.Thr300Ala	missense variant	-	NC_000021.9:g.43063009T>C	ExAC,gnomAD
rs746575551	p.Tyr301Ter	stop gained	-	NC_000021.9:g.43063004G>C	ExAC,TOPMed,gnomAD
RCV000411137	p.Tyr301Ter	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063004G>C	ClinVar
rs779270933	p.Glu302Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt,dbSNP
VAR_008076	p.Glu302Lys	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt
rs779270933	p.Glu302Lys	missense variant	-	NC_000021.9:g.43063003C>T	ExAC,TOPMed,gnomAD
RCV000723460	p.Glu302Lys	missense variant	-	NC_000021.9:g.43063003C>T	ClinVar
rs1178687976	p.Gly305Trp	missense variant	-	NC_000021.9:g.43062994C>A	gnomAD
VAR_008077	p.Gly305Arg	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
RCV000618753	p.Gly307Ser	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
RCV000173641	p.Gly307Ser	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062988C>T	ClinVar
RCV000366433	p.Gly307Ser	missense variant	Homocystinuria	NC_000021.9:g.43062988C>T	ClinVar
RCV000000137	p.Gly307Ser	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43062988C>T	ClinVar
rs121964962	p.Gly307Ser	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt,dbSNP
VAR_002186	p.Gly307Ser	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt
rs121964962	p.Gly307Ser	missense variant	-	NC_000021.9:g.43062988C>T	ESP,ExAC,TOPMed,gnomAD
RCV000078112	p.Gly307Ser	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
RCV000000138	p.Gly307Ser	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43062988C>T	ClinVar
rs540013184	p.Asp309Asn	missense variant	-	NC_000021.9:g.43062982C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1323813663	p.Ile311Leu	missense variant	-	NC_000021.9:g.43062976T>G	gnomAD
rs761787042	p.Pro312His	missense variant	-	NC_000021.9:g.43062972G>T	ExAC,gnomAD
rs774557878	p.Thr313Met	missense variant	-	NC_000021.9:g.43062969G>A	ExAC,gnomAD
rs762823766	p.Val314Met	missense variant	-	NC_000021.9:g.43062967C>T	ExAC,gnomAD
rs1438933819	p.Val314Ala	missense variant	-	NC_000021.9:g.43062966A>G	gnomAD
rs775432669	p.Arg317Gly	missense variant	-	NC_000021.9:g.43062958T>C	ExAC,gnomAD
RCV000755893	p.Thr318Met	missense variant	-	NC_000021.9:g.43062954G>A	ClinVar
RCV000468076	p.Thr318Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062954G>A	ClinVar
rs769541394	p.Thr318Met	missense variant	-	NC_000021.9:g.43062954G>A	ExAC,gnomAD
rs781567152	p.Val320Ala	missense variant	-	NC_000021.9:g.43062391A>G	ExAC,gnomAD
rs781567152	p.Val320Ala	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt,dbSNP
VAR_008078	p.Val320Ala	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt
RCV000410016	p.Val320Ala	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062391A>G	ClinVar
RCV000780081	p.Val320Ala	missense variant	Homocystinuria	NC_000021.9:g.43062391A>G	ClinVar
rs1225612737	p.Asp321Gly	missense variant	-	NC_000021.9:g.43062388T>C	gnomAD
VAR_066102	p.Asp321Val	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs751768786	p.Lys322Thr	missense variant	-	NC_000021.9:g.43062385T>G	ExAC,gnomAD
rs757588995	p.Lys322Glu	missense variant	-	NC_000021.9:g.43062386T>C	ExAC,gnomAD
rs863223432	p.Trp323Ter	stop gained	-	NC_000021.9:g.43062381C>T	gnomAD
RCV000197013	p.Trp323Ter	nonsense	-	NC_000021.9:g.43062381C>T	ClinVar
RCV000363392	p.Trp323Ter	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062381C>T	ClinVar
rs758447354	p.Asp328Asn	missense variant	-	NC_000021.9:g.43062368C>T	ExAC,gnomAD
RCV000755891	p.Asp328Asn	missense variant	-	NC_000021.9:g.43062368C>T	ClinVar
RCV000665455	p.Asp328Asn	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062368C>T	ClinVar
rs1165948778	p.Glu329Gly	missense variant	-	NC_000021.9:g.43062364T>C	gnomAD
rs765151853	p.Glu329Asp	missense variant	-	NC_000021.9:g.43062363C>G	ExAC,gnomAD
rs777919630	p.Ala331Glu	missense variant	-	NC_000021.9:g.43062358G>T	TOPMed,gnomAD
rs1194877209	p.Ala331Ser	missense variant	-	NC_000021.9:g.43062359C>A	gnomAD
rs777919630	p.Ala331Val	missense variant	-	NC_000021.9:g.43062358G>A	TOPMed,gnomAD
rs777919630	p.Ala331Val	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt,dbSNP
VAR_002187	p.Ala331Val	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt
rs777919630	p.Ala331Glu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt,dbSNP
VAR_008079	p.Ala331Glu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt
RCV000173977	p.Ala331Val	missense variant	-	NC_000021.9:g.43062358G>A	ClinVar
RCV000547604	p.Ala331Glu	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062358G>T	ClinVar
rs1064793703	p.AlaArg335AlaCys	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	-
RCV000670102	p.Arg336Ter	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062340_43062343del	ClinVar
rs760417941	p.Arg336His	missense variant	-	NC_000021.9:g.43062343C>T	ExAC,gnomAD
rs760417941	p.Arg336His	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt,dbSNP
VAR_008080	p.Arg336His	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt
rs398123151	p.Arg336Cys	missense variant	-	NC_000021.9:g.43062344G>A	ExAC,gnomAD
RCV000078105	p.Arg336Cys	missense variant	-	NC_000021.9:g.43062344G>A	ClinVar
RCV000169310	p.Arg336Cys	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062344G>A	ClinVar
RCV000409189	p.Arg336His	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062343C>T	ClinVar
RCV000487415	p.Arg336Cys	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	ClinVar
rs760417941	p.Arg336Leu	missense variant	-	NC_000021.9:g.43062343C>A	ExAC,gnomAD
rs372822486	p.Met337Val	missense variant	-	NC_000021.9:g.43062341T>C	ESP,ExAC,gnomAD
RCV000196067	p.Met337Val	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
RCV000199004	p.Met337Leu	missense variant	-	NC_000021.9:g.43062341T>G	ClinVar
RCV000243887	p.Met337Val	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
rs771910579	p.Met337Arg	missense variant	-	NC_000021.9:g.43062340A>C	ExAC,gnomAD
rs372822486	p.Met337Leu	missense variant	-	NC_000021.9:g.43062341T>G	ESP,ExAC,gnomAD
VAR_021797	p.Leu338Pro	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1321607022	p.Ala340Thr	missense variant	-	NC_000021.9:g.43062332C>T	gnomAD
rs1282760211	p.Ala340Val	missense variant	-	NC_000021.9:g.43062331G>A	gnomAD
rs771298943	p.Gly347Ser	missense variant	-	NC_000021.9:g.43062311C>T	ExAC,gnomAD
RCV000197584	p.Gly347Ser	missense variant	-	NC_000021.9:g.43062311C>T	ClinVar
rs771298943	p.Gly347Cys	missense variant	-	NC_000021.9:g.43062311C>A	ExAC,gnomAD
RCV000780082	p.Gly347Ser	missense variant	Homocystinuria	NC_000021.9:g.43062311C>T	ClinVar
rs763890444	p.Ser349Gly	missense variant	-	NC_000021.9:g.43060541T>C	ExAC,gnomAD
rs973369208	p.Ser349Thr	missense variant	-	NC_000021.9:g.43060540C>G	TOPMed
VAR_021799	p.Ser349Asn	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs762513900	p.Ala350Ser	missense variant	-	NC_000021.9:g.43060538C>A	ExAC,gnomAD
rs1400722415	p.Ala350Val	missense variant	-	NC_000021.9:g.43060537G>A	gnomAD
rs1160971811	p.Gly351Asp	missense variant	-	NC_000021.9:g.43060534C>T	gnomAD
rs774926464	p.Gly351Arg	missense variant	-	NC_000021.9:g.43060535C>G	ExAC,gnomAD
RCV000195902	p.Gly351Arg	missense variant	-	NC_000021.9:g.43060535C>G	ClinVar
VAR_008081	p.Ser352Asn	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
RCV000169466	p.Thr353Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060528G>A	ClinVar
rs121964972	p.Thr353Met	missense variant	-	NC_000021.9:g.43060528G>A	ESP,ExAC,TOPMed,gnomAD
rs121964972	p.Thr353Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt,dbSNP
VAR_008082	p.Thr353Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt
rs773726723	p.Val354Ala	missense variant	-	NC_000021.9:g.43060525A>G	ExAC,gnomAD
rs1192581453	p.Ala355Pro	missense variant	-	NC_000021.9:g.43060523C>G	gnomAD
RCV000598006	p.Ala355Val	missense variant	-	NC_000021.9:g.43060522G>A	ClinVar
rs1192581453	p.Ala355Thr	missense variant	-	NC_000021.9:g.43060523C>T	gnomAD
rs772384826	p.Ala355Val	missense variant	-	NC_000021.9:g.43060522G>A	ExAC,TOPMed,gnomAD
rs370163789	p.Val356Ala	missense variant	-	NC_000021.9:g.43060519A>G	gnomAD
rs370163789	p.Val356Gly	missense variant	-	NC_000021.9:g.43060519A>C	gnomAD
rs1220129204	p.Val356Met	missense variant	-	NC_000021.9:g.43060520C>T	gnomAD
RCV000618875	p.Val356Ala	missense variant	-	NC_000021.9:g.43060519A>G	ClinVar
rs1292263120	p.Ala357Thr	missense variant	-	NC_000021.9:g.43060517C>T	gnomAD
rs863223437	p.Ala357Gly	missense variant	-	NC_000021.9:g.43060516G>C	TOPMed,gnomAD
rs863223437	p.Ala357Val	missense variant	-	NC_000021.9:g.43060516G>A	TOPMed,gnomAD
RCV000473415	p.Ala357Gly	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060516G>C	ClinVar
RCV000199512	p.Ala357Gly	missense variant	-	NC_000021.9:g.43060516G>C	ClinVar
rs148589243	p.Val358Leu	missense variant	-	NC_000021.9:g.43060514C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000474043	p.Val358Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060514C>T	ClinVar
rs148589243	p.Val358Met	missense variant	-	NC_000021.9:g.43060514C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000199585	p.Val358Met	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
RCV000420634	p.Val358Met	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
rs1300646763	p.Lys359Asn	missense variant	-	NC_000021.9:g.43060509C>G	gnomAD
rs779940364	p.Lys359Met	missense variant	-	NC_000021.9:g.43060510T>A	ExAC,TOPMed,gnomAD
rs1423323590	p.Ala360Thr	missense variant	-	NC_000021.9:g.43060508C>T	gnomAD
rs1555873407	p.AlaAla360AlaThr	missense variant	-	NC_000021.9:g.43060505_43060506delinsTA	-
rs1365464994	p.Ala360Asp	missense variant	-	NC_000021.9:g.43060507G>T	gnomAD
rs1365464994	p.Ala360Val	missense variant	-	NC_000021.9:g.43060507G>A	gnomAD
rs370851632	p.Ala361Val	missense variant	-	NC_000021.9:g.43060504G>A	ESP,TOPMed,gnomAD
RCV000648114	p.Ala361Thr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060505_43060506delinsTA	ClinVar
rs745764562	p.Ala361Thr	missense variant	-	NC_000021.9:g.43060505C>T	ExAC,TOPMed,gnomAD
rs745764562	p.Ala361Thr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt,dbSNP
VAR_046934	p.Ala361Thr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt
RCV000576355	p.Ala361Val	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060504G>A	ClinVar
RCV000482968	p.Glu363Ter	frameshift	-	NC_000021.9:g.43060500del	ClinVar
rs1478217276	p.Glu363Lys	missense variant	-	NC_000021.9:g.43060499C>T	gnomAD
rs1265455165	p.Leu364Pro	missense variant	-	NC_000021.9:g.43060495A>G	gnomAD
rs757098275	p.Glu366Lys	missense variant	-	NC_000021.9:g.43060490C>T	ExAC,gnomAD
rs1269436351	p.Gly367Ser	missense variant	-	NC_000021.9:g.43060487C>T	gnomAD
rs117687681	p.Arg369Cys	missense variant	-	NC_000021.9:g.43060481G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs11700812	p.Arg369Pro	missense variant	-	NC_000021.9:g.43060480C>G	ExAC,gnomAD
RCV000231839	p.Arg369Cys	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060481G>A	ClinVar
RCV000242755	p.Arg369Cys	missense variant	-	NC_000021.9:g.43060481G>A	ClinVar
rs11700812	p.Arg369His	missense variant	-	NC_000021.9:g.43060480C>T	ExAC,gnomAD
rs757920190	p.Cys370Tyr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt,dbSNP
VAR_008085	p.Cys370Tyr	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt
rs757920190	p.Cys370Tyr	missense variant	-	NC_000021.9:g.43060477C>T	ExAC,gnomAD
rs1192694513	p.Cys370Arg	missense variant	-	NC_000021.9:g.43060478A>G	gnomAD
RCV000482454	p.Cys370Tyr	missense variant	-	NC_000021.9:g.43060477C>T	ClinVar
RCV000196393	p.Val371Met	missense variant	-	NC_000021.9:g.43060475C>T	ClinVar
rs372010465	p.Val371Leu	missense variant	-	NC_000021.9:g.43060475C>G	ESP,ExAC,TOPMed,gnomAD
rs372010465	p.Val371Met	missense variant	-	NC_000021.9:g.43060475C>T	ESP,ExAC,TOPMed,gnomAD
rs372010465	p.Val371Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt,dbSNP
VAR_002190	p.Val371Met	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt
rs775354680	p.Val372Phe	missense variant	-	NC_000021.9:g.43060472C>A	ExAC,TOPMed,gnomAD
rs775354680	p.Val372Ile	missense variant	-	NC_000021.9:g.43060472C>T	ExAC,TOPMed,gnomAD
RCV000200072	p.Val372Phe	missense variant	-	NC_000021.9:g.43060472C>A	ClinVar
rs1170128038	p.Asp376Asn	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt,dbSNP
VAR_046935	p.Asp376Asn	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt
rs1170128038	p.Asp376Asn	missense variant	-	NC_000021.9:g.43060460C>T	gnomAD
rs920511437	p.Ser377Thr	missense variant	-	NC_000021.9:g.43060457A>T	TOPMed
rs547713475	p.Val378Leu	missense variant	-	NC_000021.9:g.43060454C>A	1000Genomes,ExAC,gnomAD
rs769080151	p.Arg379Trp	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt,dbSNP
VAR_046936	p.Arg379Trp	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt
RCV000169171	p.Arg379Gln	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060450C>T	ClinVar
rs769080151	p.Arg379Trp	missense variant	-	NC_000021.9:g.43060451G>A	ExAC,gnomAD
rs763036586	p.Arg379Gln	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt,dbSNP
VAR_021801	p.Arg379Gln	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt
rs763036586	p.Arg379Gln	missense variant	-	NC_000021.9:g.43060450C>T	ExAC,gnomAD
RCV000763061	p.Arg379Trp	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060451G>A	ClinVar
RCV000701888	p.Thr383Ile	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059301G>A	ClinVar
rs121964967	p.Lys384Glu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt,dbSNP
VAR_002191	p.Lys384Glu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt
rs121964967	p.Lys384Glu	missense variant	-	NC_000021.9:g.43059299T>C	-
RCV000000145	p.Lys384Glu	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43059299T>C	ClinVar
VAR_008086	p.Lys384Asn	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs375513996	p.Asp388Asn	missense variant	-	NC_000021.9:g.43059287C>T	ESP,ExAC,TOPMed,gnomAD
rs1421332904	p.Asp388Gly	missense variant	-	NC_000021.9:g.43059286T>C	gnomAD
rs375513996	p.Asp388Tyr	missense variant	-	NC_000021.9:g.43059287C>A	ESP,ExAC,TOPMed,gnomAD
RCV000620693	p.Arg389Thr	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
RCV000596015	p.Arg389Thr	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
rs1383178636	p.Arg389Lys	missense variant	-	NC_000021.9:g.43059283C>T	gnomAD
rs1383178636	p.Arg389Thr	missense variant	-	NC_000021.9:g.43059283C>G	gnomAD
VAR_008087	p.Met391Ile	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1424033329	p.Lys394Arg	missense variant	-	NC_000021.9:g.43059268T>C	gnomAD
rs1257759867	p.Gly395Val	missense variant	-	NC_000021.9:g.43059265C>A	gnomAD
rs1485255027	p.Glu399Lys	missense variant	-	NC_000021.9:g.43059254C>T	gnomAD
rs763217939	p.Leu402Ile	missense variant	-	NC_000021.9:g.43059245G>T	ExAC,gnomAD
rs371214833	p.Leu402Pro	missense variant	-	NC_000021.9:g.43059244A>G	ESP,ExAC,gnomAD
RCV000555545	p.Leu402Pro	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059244A>G	ClinVar
rs886042297	p.Thr403Met	missense variant	-	NC_000021.9:g.43059241G>A	gnomAD
RCV000372121	p.Thr403Met	missense variant	-	NC_000021.9:g.43059241G>A	ClinVar
rs376942014	p.Glu404Asp	missense variant	-	NC_000021.9:g.43059237C>G	ESP,ExAC,TOPMed,gnomAD
rs570121873	p.Lys405Gln	missense variant	-	NC_000021.9:g.43059236T>G	1000Genomes,ExAC,gnomAD
rs570121873	p.Lys405Ter	stop gained	-	NC_000021.9:g.43059236T>A	1000Genomes,ExAC,gnomAD
rs766523013	p.Lys406Arg	missense variant	-	NC_000021.9:g.43059232T>C	ExAC,gnomAD
rs992398873	p.Lys406Gln	missense variant	-	NC_000021.9:g.43059233T>G	TOPMed,gnomAD
RCV000174443	p.Lys406Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059231del	ClinVar
RCV000724407	p.Lys406Ter	frameshift	-	NC_000021.9:g.43059231del	ClinVar
RCV000666270	p.Trp408Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059230del	ClinVar
rs863223433	p.Trp408Ter	stop gained	-	NC_000021.9:g.43059226C>T	-
rs1445695397	p.Trp408Cys	missense variant	-	NC_000021.9:g.43058968C>A	gnomAD
RCV000196138	p.Trp408Ter	nonsense	-	NC_000021.9:g.43059226C>T	ClinVar
RCV000588547	p.Trp408Ter	frameshift	Homocystinuria	NC_000021.9:g.43059230del	ClinVar
rs376916741	p.Trp409Ter	stop gained	-	NC_000021.9:g.43058966C>T	ExAC,gnomAD
rs1332950288	p.Trp409Ter	stop gained	-	NC_000021.9:g.43058965C>T	gnomAD
rs376916741	p.Trp409Leu	missense variant	-	NC_000021.9:g.43058966C>A	ExAC,gnomAD
rs1467814360	p.Trp410Ter	stop gained	-	NC_000021.9:g.43058962C>T	gnomAD
rs1404697104	p.His411Asn	missense variant	-	NC_000021.9:g.43058961G>T	gnomAD
rs574577579	p.Arg413His	missense variant	-	NC_000021.9:g.43058954C>T	1000Genomes,ExAC,gnomAD
rs767595472	p.Arg413Cys	missense variant	-	NC_000021.9:g.43058955G>A	ExAC,gnomAD
rs1379816380	p.Val414Ile	missense variant	-	NC_000021.9:g.43058952C>T	gnomAD
rs1180174934	p.Gln415Arg	missense variant	-	NC_000021.9:g.43058948T>C	gnomAD
rs751477766	p.Glu416Gln	missense variant	-	NC_000021.9:g.43058946C>G	ExAC,gnomAD
rs1460109011	p.Gly418Asp	missense variant	-	NC_000021.9:g.43058939C>T	gnomAD
rs1200734227	p.Gly418Ser	missense variant	-	NC_000021.9:g.43058940C>T	gnomAD
rs1460109011	p.Gly418Val	missense variant	-	NC_000021.9:g.43058939C>A	gnomAD
rs886039021	p.Ala421Asp	missense variant	-	NC_000021.9:g.43058930G>T	gnomAD
RCV000248108	p.Ala421Asp	missense variant	-	NC_000021.9:g.43058930G>T	ClinVar
rs28934892	p.Pro422Leu	missense variant	-	NC_000021.9:g.43058927G>A	gnomAD
rs28934892	p.Pro422Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt,dbSNP
VAR_021802	p.Pro422Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt
RCV000000152	p.Pro422Leu	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058927G>A	ClinVar
rs138211175	p.Val425Leu	missense variant	-	NC_000021.9:g.43058919C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138211175	p.Val425Met	missense variant	-	NC_000021.9:g.43058919C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000620815	p.Val425Met	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
RCV000554628	p.Val425Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058919C>T	ClinVar
RCV000592999	p.Val425Met	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
rs1311066540	p.Leu426Phe	missense variant	-	NC_000021.9:g.43058916G>A	gnomAD
rs863223434	p.Pro427Leu	missense variant	-	NC_000021.9:g.43058912G>A	gnomAD
rs1450044796	p.Pro427Ser	missense variant	-	NC_000021.9:g.43058913G>A	gnomAD
RCV000584030	p.Pro427Leu	missense variant	-	NC_000021.9:g.43058912G>A	ClinVar
rs776175674	p.Thr428Asn	missense variant	-	NC_000021.9:g.43058909G>T	ExAC,gnomAD
rs1405061619	p.Ile429Val	missense variant	-	NC_000021.9:g.43058907T>C	gnomAD
rs947698557	p.Thr430Ala	missense variant	-	NC_000021.9:g.43058904T>C	TOPMed
rs1381340460	p.Cys431Tyr	missense variant	-	NC_000021.9:g.43058900C>T	gnomAD
rs1180854779	p.Gly432Arg	missense variant	-	NC_000021.9:g.43058898C>T	gnomAD
rs1237063529	p.His433Pro	missense variant	-	NC_000021.9:g.43058894T>G	gnomAD
rs1555872506	p.Thr434Asn	missense variant	-	NC_000021.9:g.43058891G>T	-
rs1555872506	p.Thr434Asn	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt,dbSNP
VAR_008088	p.Thr434Asn	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt
RCV000667146	p.Thr434Asn	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058891G>T	ClinVar
rs1282119406	p.Ile435Asn	missense variant	-	NC_000021.9:g.43058888A>T	gnomAD
RCV000666335	p.Ile435Thr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058888A>G	ClinVar
rs1282119406	p.Ile435Thr	missense variant	-	NC_000021.9:g.43058888A>G	gnomAD
VAR_008089	p.Ile435Thr	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1354271840	p.Glu436Lys	missense variant	-	NC_000021.9:g.43058886C>T	gnomAD
rs1243421704	p.Leu438Phe	missense variant	-	NC_000021.9:g.43058880G>A	gnomAD
rs756467921	p.Arg439Gln	missense variant	-	NC_000021.9:g.43058876C>T	ExAC,gnomAD
rs780508029	p.Arg439Trp	missense variant	-	NC_000021.9:g.43058877G>A	ExAC,gnomAD
RCV000169494	p.Arg439Gln	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058876C>T	ClinVar
rs1449634173	p.Glu440Gln	missense variant	-	NC_000021.9:g.43058874C>G	gnomAD
rs1057516645	p.Lys441Ter	stop gained	-	NC_000021.9:g.43058871T>A	-
RCV000412412	p.Lys441Ter	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058871T>A	ClinVar
rs1324151005	p.Gly442Asp	missense variant	-	NC_000021.9:g.43058867C>T	gnomAD
RCV000174656	p.Asp444Asn	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058862C>T	ClinVar
rs28934891	p.Asp444Asn	missense variant	-	NC_000021.9:g.43058862C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28934891	p.Asp444Asn	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt,dbSNP
VAR_002192	p.Asp444Asn	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt
rs1413430493	p.Ala446Thr	missense variant	-	NC_000021.9:g.43058856C>T	gnomAD
rs757347527	p.Ala446Val	missense variant	-	NC_000021.9:g.43058855G>A	ExAC,gnomAD
VAR_066103	p.Ala446Ser	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs764165836	p.Pro447Thr	missense variant	-	NC_000021.9:g.43058853G>T	ExAC,gnomAD
rs865989946	p.Val448Leu	missense variant	-	NC_000021.9:g.43058850C>A	TOPMed,gnomAD
rs865989946	p.Val448Met	missense variant	-	NC_000021.9:g.43058850C>T	TOPMed,gnomAD
RCV000490064	p.Val448Met	missense variant	-	NC_000021.9:g.43058850C>T	ClinVar
VAR_074593	p.Val449Gly	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
RCV000198168	p.Glu451Asp	missense variant	-	NC_000021.9:g.43058839C>G	ClinVar
RCV000764259	p.Glu451Asp	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058839C>G	ClinVar
rs1220059415	p.Glu451Gly	missense variant	-	NC_000021.9:g.43058840T>C	gnomAD
rs367962613	p.Glu451Asp	missense variant	-	NC_000021.9:g.43058839C>G	ESP,ExAC,gnomAD
rs201585750	p.Ala452Val	missense variant	-	NC_000021.9:g.43058837G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201585750	p.Ala452Glu	missense variant	-	NC_000021.9:g.43058837G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs886057099	p.Gly453Trp	missense variant	-	NC_000021.9:g.43058835C>A	gnomAD
rs886039146	p.Gly453Glu	missense variant	-	NC_000021.9:g.43058834C>T	gnomAD
rs886057099	p.Gly453Arg	missense variant	-	NC_000021.9:g.43058835C>T	gnomAD
RCV000339973	p.Gly453Trp	missense variant	Homocystinuria	NC_000021.9:g.43058835C>A	ClinVar
RCV000248732	p.Gly453Glu	missense variant	-	NC_000021.9:g.43058834C>T	ClinVar
rs1398459455	p.Val454Ala	missense variant	-	NC_000021.9:g.43058251A>G	gnomAD
VAR_002193	p.Val454Glu	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs751797189	p.Ile455Asn	missense variant	-	NC_000021.9:g.43058248A>T	ExAC,gnomAD
VAR_021803	p.Leu456Pro	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs758500477	p.Met458Thr	missense variant	-	NC_000021.9:g.43058239A>G	ExAC,gnomAD
rs752596508	p.Thr460Met	missense variant	-	NC_000021.9:g.43058233G>A	ExAC,gnomAD
rs902200637	p.Leu461Phe	missense variant	-	NC_000021.9:g.43058231G>A	TOPMed
rs141428279	p.Met464Thr	missense variant	-	NC_000021.9:g.43058221A>G	ESP,ExAC
rs121964971	p.Ser466Leu	missense variant	-	NC_000021.9:g.43058215G>A	ExAC,TOPMed,gnomAD
rs121964971	p.Ser466Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt,dbSNP
VAR_008091	p.Ser466Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt
RCV000000153	p.Ser466Leu	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058215G>A	ClinVar
rs1237233267	p.Ser467Phe	missense variant	-	NC_000021.9:g.43058212G>A	gnomAD
rs201098477	p.Gly471Arg	missense variant	-	NC_000021.9:g.43058201C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000200328	p.Gly471Arg	missense variant	-	NC_000021.9:g.43058201C>T	ClinVar
RCV000764258	p.Gly471Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058201C>T	ClinVar
rs562625029	p.Gln474Ter	stop gained	-	NC_000021.9:g.43058192G>A	1000Genomes
rs367711379	p.Pro475Leu	missense variant	-	NC_000021.9:g.43058188G>A	ESP,ExAC,TOPMed,gnomAD
RCV000617298	p.Asp477Glu	missense variant	-	NC_000021.9:g.43058181G>T	ClinVar
rs1555871920	p.Asp477Glu	missense variant	-	NC_000021.9:g.43058181G>T	-
rs886038933	p.Val479Ala	missense variant	-	NC_000021.9:g.43058176A>G	gnomAD
RCV000253951	p.Val479Ala	missense variant	-	NC_000021.9:g.43058176A>G	ClinVar
rs746393838	p.Ile483Thr	missense variant	-	NC_000021.9:g.43058164A>G	ExAC,gnomAD
rs1555871913	p.Tyr484Phe	missense variant	-	NC_000021.9:g.43058161T>A	-
RCV000557667	p.Tyr484Phe	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>A	ClinVar
rs1555871913	p.Tyr484Cys	missense variant	-	NC_000021.9:g.43058161T>C	-
RCV000648119	p.Tyr484Cys	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>C	ClinVar
rs886057098	p.Lys485Glu	missense variant	-	NC_000021.9:g.43058159T>C	-
RCV000403386	p.Lys485Glu	missense variant	Homocystinuria	NC_000021.9:g.43058159T>C	ClinVar
RCV000483442	p.Arg491His	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
rs1339830457	p.Arg491Cys	missense variant	-	NC_000021.9:g.43056884G>A	gnomAD
rs747419767	p.Arg491His	missense variant	-	NC_000021.9:g.43056883C>T	ExAC,TOPMed,gnomAD
RCV000249170	p.Arg491His	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
rs996249907	p.Thr493Met	missense variant	-	NC_000021.9:g.43056877G>A	TOPMed,gnomAD
RCV000482429	p.Thr495Met	missense variant	-	NC_000021.9:g.43056871G>A	ClinVar
rs1292687681	p.Thr495Ala	missense variant	-	NC_000021.9:g.43056872T>C	gnomAD
rs772344567	p.Thr495Lys	missense variant	-	NC_000021.9:g.43056871G>T	ExAC,TOPMed,gnomAD
rs772344567	p.Thr495Met	missense variant	-	NC_000021.9:g.43056871G>A	ExAC,TOPMed,gnomAD
RCV000463603	p.Thr495Met	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056871G>A	ClinVar
rs755106884	p.Ser500Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt,dbSNP
VAR_074594	p.Ser500Leu	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt
rs755106884	p.Ser500Leu	missense variant	-	NC_000021.9:g.43056856G>A	ExAC,TOPMed,gnomAD
RCV000593857	p.Ser500Ter	frameshift	-	NC_000021.9:g.43056857_43056858AG[1]	ClinVar
rs1265746216	p.Leu503Val	missense variant	-	NC_000021.9:g.43056848G>C	gnomAD
rs200613751	p.Met505Ile	missense variant	-	NC_000021.9:g.43056840C>T	1000Genomes,gnomAD
rs1317348103	p.Asp506Asn	missense variant	-	NC_000021.9:g.43056839C>T	gnomAD
rs794727161	p.Ala509Val	missense variant	-	NC_000021.9:g.43056829G>A	-
rs1060500680	p.Ala509Thr	missense variant	-	NC_000021.9:g.43056830C>T	TOPMed,gnomAD
RCV000467733	p.Ala509Thr	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056830C>T	ClinVar
RCV000174986	p.Ala509Val	missense variant	-	NC_000021.9:g.43056829G>A	ClinVar
rs1387121972	p.Val511Met	missense variant	-	NC_000021.9:g.43056824C>T	gnomAD
rs187828882	p.His513Gln	missense variant	-	NC_000021.9:g.43056816G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1328834710	p.His513Arg	missense variant	-	NC_000021.9:g.43056817T>C	gnomAD
RCV000424660	p.His513Gln	missense variant	-	NC_000021.9:g.43056816G>C	ClinVar
rs145228319	p.Glu514Gln	missense variant	-	NC_000021.9:g.43056815C>G	ESP,ExAC,gnomAD
rs145228319	p.Glu514Lys	missense variant	-	NC_000021.9:g.43056815C>T	ESP,ExAC,gnomAD
rs1463986810	p.Gln515Ter	stop gained	-	NC_000021.9:g.43056812G>A	gnomAD
RCV000669346	p.Ile516Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056810del	ClinVar
rs750311684	p.Gln517His	missense variant	-	NC_000021.9:g.43056804C>G	ExAC,gnomAD
rs1198678305	p.Tyr518His	missense variant	-	NC_000021.9:g.43056803A>G	gnomAD
rs201916339	p.Gly522Arg	missense variant	-	NC_000021.9:g.43053972C>T	ExAC,gnomAD
RCV000169113	p.Lys523Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053972del	ClinVar
rs747984710	p.Ser524Pro	missense variant	-	NC_000021.9:g.43053966A>G	ExAC,gnomAD
rs1359693246	p.Ser525Asn	missense variant	-	NC_000021.9:g.43053962C>T	gnomAD
RCV000672976	p.Gln526Ter	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053960G>A	ClinVar
rs1555869958	p.Gln526Ter	stop gained	-	NC_000021.9:g.43053960G>A	-
VAR_046937	p.Gln526Lys	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs1455031864	p.Arg527Trp	missense variant	-	NC_000021.9:g.43053957G>A	gnomAD
rs768230991	p.Phe531Leu	missense variant	-	NC_000021.9:g.43053943G>T	ExAC,gnomAD
rs748953468	p.Gly532Arg	missense variant	-	NC_000021.9:g.43053942C>T	ExAC,gnomAD
RCV000594688	p.Gly532Arg	missense variant	-	NC_000021.9:g.43053942C>T	ClinVar
RCV000696029	p.Gly532Arg	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053942C>T	ClinVar
RCV000703932	p.Val533Leu	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053939C>A	ClinVar
rs779569366	p.Val534Ile	missense variant	-	NC_000021.9:g.43053936C>T	ExAC,gnomAD
VAR_008093	p.Val534Asp	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
RCV000666158	p.Thr535Ter	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053933_43053934del	ClinVar
rs747522167	p.Ala536Thr	missense variant	-	NC_000021.9:g.43053930C>T	ExAC,gnomAD
rs121964968	p.Leu539Ser	missense variant	-	NC_000021.9:g.43053920A>G	1000Genomes,ExAC,gnomAD
rs121964968	p.Leu539Ser	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt,dbSNP
VAR_002194	p.Leu539Ser	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt
RCV000675072	p.Leu539Ser	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053920A>G	ClinVar
VAR_074595	p.Leu540Gln	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
rs753183931	p.Val543Met	missense variant	-	NC_000021.9:g.43053909C>T	ExAC,gnomAD
rs139651937	p.Ala545Ser	missense variant	-	NC_000021.9:g.43053903C>A	ESP,ExAC,gnomAD
rs754031824	p.Ala545Gly	missense variant	-	NC_000021.9:g.43053902G>C	ExAC,gnomAD
rs766444814	p.Arg548Trp	missense variant	-	NC_000021.9:g.43053894G>A	ExAC,TOPMed,gnomAD
RCV000227198	p.Arg548Gln	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053893C>T	ClinVar
rs150828989	p.Arg548Gln	missense variant	-	NC_000021.9:g.43053893C>T	UniProt,dbSNP
VAR_046938	p.Arg548Gln	missense variant	-	NC_000021.9:g.43053893C>T	UniProt
rs150828989	p.Arg548Gln	missense variant	-	NC_000021.9:g.43053893C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1365095601	p.Ter552Cys	stop lost	-	NC_000021.9:g.43053880T>G	gnomAD
rs767500762	p.Ter552Gly	stop lost	-	NC_000021.9:g.43053882A>C	ExAC,gnomAD
RCV000674493	p.Ter552Cys	stop lost	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053880T>G	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE;LHGDN
C0002418	Amblyopia	phenotype	HPO
C0002895	Anemia, Sickle Cell	disease	BEFREE
C0002949	Aneurysm, Dissecting	disease	BEFREE
C0003706	Arachnodactyly	disease	HPO
C0003838	Arterial Occlusive Diseases	group	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003857	Congenital arteriovenous malformation	disease	HPO
C0004153	Atherosclerosis	disease	BEFREE
C0004352	Autistic Disorder	group	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;PSYGENET
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006849	Oral candidiasis	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE;CTD_human;LHGDN
C0007766	Intracranial Aneurysm	disease	BEFREE
C0007785	Cerebral Infarction	disease	BEFREE
C0007786	Brain Ischemia	disease	HPO
C0009241	Cognition Disorders	group	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009782	Connective Tissue Diseases	group	BEFREE
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0011303	Demyelinating Diseases	group	LHGDN
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE;HPO
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	CTD_human
C0013080	Down Syndrome	disease	BEFREE;LHGDN
C0013581	Ectopia Lentis	disease	HPO
C0013720	Ehlers-Danlos Syndrome	disease	GENOMICS_ENGLAND
C0014544	Epilepsy	disease	HPO
C0015695	Fatty Liver	disease	BEFREE
C0016412	Folic Acid Deficiency	disease	BEFREE
C0016655	Fractures, Multiple	group	HPO
C0017601	Glaucoma	disease	HPO
C0017636	Glioblastoma	disease	BEFREE
C0018790	Cardiac Arrest	disease	BEFREE
C0018798	Congenital Heart Defects	group	BEFREE
C0018799	Heart Diseases	group	LHGDN
C0019294	Hernia, Inguinal	phenotype	HPO
C0019880	Homocystinuria	disease	BEFREE;CLINVAR;CTD_human;HPO;LHGDN;MGD
C0020179	Huntington Disease	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE;CTD_human;HPO
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0021294	Infant, Premature	phenotype	BEFREE
C0021390	Inflammatory Bowel Diseases	group	BEFREE
C0022821	Kyphosis deformity of spine	phenotype	HPO
C0023309	Lens dislocation	phenotype	HPO
C0023418	leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023462	Acute Megakaryocytic Leukemias	disease	BEFREE;LHGDN
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE
C0024121	Lung Neoplasms	group	BEFREE;LHGDN
C0024302	Reticulosarcoma	disease	CTD_human
C0024304	Lymphoma, Mixed-Cell	disease	CTD_human
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE;CTD_human
C0024306	Lymphoma, Undifferentiated	disease	CTD_human
C0024591	Malignant hyperpyrexia due to anesthesia	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	CTD_human
C0025286	Meningioma	disease	BEFREE;LHGDN
C0025312	Meningomyelocele	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE;HPO
C0025521	Inborn Errors of Metabolism	group	BEFREE;LHGDN
C0026267	Mitral Valve Prolapse Syndrome	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE
C0026946	Mycoses	group	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE;HPO
C0027092	Myopia	disease	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0028754	Obesity	disease	BEFREE
C0029456	Osteoporosis	disease	HPO
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030305	Pancreatitis	disease	HPO
C0031212	Personality Disorders	group	HPO
C0031511	Pheochromocytoma	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0034065	Pulmonary Embolism	disease	BEFREE;HPO
C0035067	Renal Artery Stenosis	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036572	Seizures	phenotype	HPO
C0036690	Septicemia	disease	BEFREE
C0037198	Sinus Thrombosis, Intracranial	disease	BEFREE
C0037932	Curvature of spine	phenotype	HPO
C0038454	Cerebrovascular accident	group	BEFREE;HPO
C0038525	Subarachnoid Hemorrhage	disease	BEFREE
C0040038	Thromboembolism	phenotype	HPO
C0040433	Tooth Crowding	phenotype	HPO
C0042373	Vascular Diseases	group	BEFREE
C0042487	Venous Thrombosis	phenotype	HPO
C0079740	High Grade Lymphoma (neoplasm)	disease	CTD_human
C0079741	Lymphoma, Intermediate-Grade	disease	CTD_human
C0079747	Low Grade Lymphoma (neoplasm)	disease	CTD_human
C0079757	Diffuse Mixed-Cell Lymphoma	disease	CTD_human
C0079770	Lymphoma, Small Noncleaved-Cell	disease	CTD_human
C0080178	Spina Bifida	disease	BEFREE
C0085307	Embolism and Thrombosis	disease	HPO
C0086540	Leishmaniasis, New World	disease	BEFREE
C0086543	Cataract	disease	GENOMICS_ENGLAND
C0149871	Deep Vein Thrombosis	disease	BEFREE
C0151489	Arterial malformation	phenotype	BEFREE
C0151942	Arterial thrombosis	phenotype	HPO
C0152021	Congenital heart disease	group	BEFREE
C0158731	Congenital pectus carinatum	disease	HPO
C0162298	Joint stiffness	phenotype	HPO
C0162309	Adrenoleukodystrophy	disease	BEFREE;LHGDN
C0162429	Malnutrition	disease	BEFREE;CTD_human
C0162835	Hypopigmentation disorder	group	HPO
C0162872	Aortic Aneurysm, Thoracic	disease	GENOMICS_ENGLAND
C0240635	Byzanthine arch palate	disease	HPO
C0241240	Tall stature	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0243026	Sepsis	disease	BEFREE
C0263401	Cutis marmorata	disease	HPO
C0263490	Brittle hair	disease	HPO
C0268621	Hepatic methionine adenosyltransferase deficiency	disease	BEFREE
C0278484	Malignant neoplasm of colon stage IV	disease	BEFREE
C0282528	Peroxisomal Disorders	group	GENOMICS_ENGLAND
C0338451	Frontotemporal dementia	disease	BEFREE
C0338474	Central nervous system demyelination	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0338715	Drug-induced depressive state	disease	PSYGENET
C0345050	Congenital aneurysm of ascending aorta	disease	GENOMICS_ENGLAND
C0373721	Selenium measurement	phenotype	GWASCAT
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0398623	Thrombophilia	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	BEFREE
C0497247	Increase in blood pressure	phenotype	HPO
C0524851	Neurodegenerative Disorders	group	BEFREE
C0575158	Kyphoscoliosis deformity of spine	phenotype	HPO
C0576093	Knee joint valgus deformity	phenotype	HPO
C0584960	Factor V Leiden mutation	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598608	Hyperhomocysteinemia	disease	BEFREE;CTD_human;LHGDN;RGD
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0685938	Malignant neoplasm of gastrointestinal tract	disease	BEFREE
C0699753	Cancer Relapse	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0751202	Cystathionine beta-Synthase Deficiency Disease	disease	BEFREE;CTD_human;ORPHANET;UNIPROT
C0852949	Arteriopathic disease	group	BEFREE
C0856169	Endothelial dysfunction	phenotype	BEFREE
C0917798	Cerebral Ischemia	disease	BEFREE;HPO
C0917816	Mental deficiency	disease	HPO
C0919267	ovarian neoplasm	disease	BEFREE
C0936215	Vitamin B 6 Deficiency	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1317785	Tooth size discrepancy	phenotype	HPO
C1328440	Abnormality of amino acid metabolism	phenotype	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1565489	Renal Insufficiency	disease	BEFREE
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE
C1833752	Varying degree of multiple fractures	phenotype	HPO
C1836996	Disproportionate tall stature	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1845112	Hyperkyphosis	phenotype	HPO
C1851868	Reduced tensile strength of hair	phenotype	HPO
C1856087	Biconcave vertebral bodies	phenotype	HPO
C1857042	Sparse scalp hair	phenotype	HPO
C1857108	Limitation of joint mobility	phenotype	HPO
C1867743	Premature coronary artery disease	phenotype	BEFREE
C1956346	Coronary Artery Disease	disease	BEFREE;LHGDN
C1970705	Fragile hair	phenotype	HPO
C2051831	Pectus excavatum	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2242817	Homocysteine measurement	phenotype	GWASCAT;GWASDB
C2711227	Steatohepatitis	disease	BEFREE;HPO
C3150344	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	disease	CLINVAR;UNIPROT
C3495426	Homocysteinemia	disease	BEFREE
C3502110	Homocystinuria, Pyridoxine-Responsive	disease	BEFREE;CLINVAR
C3714542	Lymphoma, Diffuse	disease	CTD_human
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C3805574	Increased fracture rate	phenotype	HPO
C3805887	Generalized osteoporosis with pathologic fractures	disease	HPO
C3806283	Frequent fractures	phenotype	HPO
C4017308	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	phenotype	CLINVAR
C4020876	Dull intelligence	phenotype	HPO
C4025708	Cerebellar malformation	phenotype	BEFREE
C4048705	Hypermethioninemia	disease	BEFREE
C4072837	Fractured hair	phenotype	HPO
C4280617	Tooth mass arch size discrepancy	phenotype	HPO
C4280618	Inadequate arch length for tooth size	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004122	cystathionine beta-synthase activity	IDA
GO:0004124	cysteine synthase activity	IBA
GO:0005515	protein binding	IPI
GO:0019825	oxygen binding	IDA
GO:0019899	enzyme binding	IPI
GO:0020037	heme binding	IMP
GO:0020037	heme binding	IBA
GO:0020037	heme binding	IDA
GO:0030170	pyridoxal phosphate binding	IDA
GO:0030170	pyridoxal phosphate binding	IBA
GO:0031625	ubiquitin protein ligase binding	IPI
GO:0042802	identical protein binding	IPI
GO:0042803	protein homodimerization activity	IDA
GO:0046872	metal ion binding	IEA
GO:0050421	nitrite reductase (NO-forming) activity	IDA
GO:0070025	carbon monoxide binding	IDA
GO:0070026	nitric oxide binding	IDA
GO:0072341	modified amino acid binding	IDA
GO:1904047	S-adenosyl-L-methionine binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006535	cysteine biosynthetic process from serine	IBA
GO:0006563	L-serine metabolic process	IDA
GO:0006565	L-serine catabolic process	IDA
GO:0019343	cysteine biosynthetic process via cystathionine	IEA
GO:0019344	cysteine biosynthetic process	IDA
GO:0019346	transsulfuration	IBA
GO:0019346	transsulfuration	TAS
GO:0019448	L-cysteine catabolic process	IDA
GO:0042262	DNA protection	IMP
GO:0043418	homocysteine catabolic process	IDA
GO:0050667	homocysteine metabolic process	IDA
GO:0050667	homocysteine metabolic process	IBA
GO:0055114	oxidation-reduction process	IEA
GO:0070814	hydrogen sulfide biosynthetic process	ISS
GO:0070814	hydrogen sulfide biosynthetic process	IDA
GO:0070814	hydrogen sulfide biosynthetic process	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IBA
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	HDA
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1430728	Metabolism	IEA
R-HSA-1614603	Cysteine formation from homocysteine	TAS
R-HSA-1614635	Sulfur amino acid metabolism	TAS
R-HSA-2408508	Metabolism of ingested SeMet, Sec, MeSec into H2Se	IEA
R-HSA-2408522	Selenoamino acid metabolism	IEA
R-HSA-71291	Metabolism of amino acids and derivatives	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of CBS mRNA	28903501
C036423	1-aminomethylphosphonic acid	[Herbicides co-treated with 1-aminomethylphosphonic acid] results in decreased expression of CBS mRNA	20566314
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of CBS mRNA	29432896
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of CBS mRNA	24810058
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of CBS protein	24810058
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of CBS mRNA	28801915
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of CBS protein	21748658
C032668	1-nitropyrene	1-nitropyrene results in increased expression of CBS mRNA	19041380
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of CBS mRNA	21346803
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in decreased expression of CBS mRNA	25088246
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
C008070	4-hydroxyphenylacetic acid	4-hydroxyphenylacetic acid inhibits the reaction [Peroxynitrous Acid results in decreased activity of CBS protein]	19733148
C496492	abrine	abrine results in decreased expression of CBS mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of CBS mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of CBS mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in increased expression of CBS mRNA	25499718
D000082	Acetaminophen	CBS gene mutant form results in increased susceptibility to Acetaminophen	25499718
D000082	Acetaminophen	[CBS gene mutant form results in increased susceptibility to Acetaminophen] which results in increased expression of GPT protein	25499718
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [Rotenone results in decreased expression of CBS protein]	25086357
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of CBS mRNA	19770486
D001151	Arsenic	Arsenic affects the methylation of CBS gene	25304211
D001151	Arsenic	Arsenic results in increased expression of CBS mRNA	18487201
D001151	Arsenic	CBS gene polymorphism affects the metabolism of Arsenic	20670920
D001151	Arsenic	CBS gene polymorphism affects the susceptibility to Arsenic	20670920
D001151	Arsenic	CBS gene SNP affects the metabolism of Arsenic	20600216
D001205	Ascorbic Acid	Ascorbic Acid results in decreased expression of CBS mRNA	19197388
C049935	avobenzone	avobenzone results in decreased expression of CBS mRNA	31016361
C547126	AZM551248	AZM551248 results in decreased expression of CBS mRNA	22323515
C028559	bathocuproine sulfonate	bathocuproine sulfonate results in decreased expression of CBS mRNA	16973896
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of CBS mRNA	27685785
C006780	bisphenol A	bisphenol A affects the expression of CBS mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased expression of CBS mRNA	20678512
C006780	bisphenol A	bisphenol A results in increased expression of CBS mRNA	30245210
C006780	bisphenol A	bisphenol A results in decreased expression of CBS mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of CBS mRNA	30816183
D001786	Blood Glucose	CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]	31283913
D001786	Blood Glucose	[CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]] which results in increased acetylation of RELA protein	31283913
D001786	Blood Glucose	[CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]] which results in increased expression of IL1B protein	31283913
D001786	Blood Glucose	[CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]] which results in increased expression of IL6 protein	31283913
D001786	Blood Glucose	[CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]] which results in increased expression of TNF protein	31283913
C013418	bromfenacoum	bromfenacoum results in decreased expression of CBS protein	28903499
C584509	C646 compound	C646 compound results in increased expression of CBS mRNA	26191083
D002104	Cadmium	CBS protein results in decreased susceptibility to Cadmium	28115653
D002104	Cadmium	Cadmium results in increased expression of CBS mRNA	24603357
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of CBS mRNA	18804290
D002220	Carbamazepine	Carbamazepine affects the expression of CBS mRNA	24752500
D002254	Carbonates	Carbonates analog results in decreased activity of CBS protein	19733148
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of CBS mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of CBS mRNA]	31150632
D002518	Ceramides	CBS protein affects the abundance of Ceramides	23024785
D002518	Ceramides	SMPD1 protein affects the reaction [CBS protein affects the abundance of Ceramides]	23024785
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of CBS mRNA	18804290
D002794	Choline	[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of CBS mRNA	23439872
D002794	Choline	[Choline deficiency co-treated with Folic Acid deficiency co-treated with Methionine deficiency] results in decreased expression of CBS mRNA	29127188
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of CBS mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of CBS mRNA	27594783
D002995	Clofibric Acid	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of CBS mRNA	17602206
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of CBS mRNA	24386269
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of CBS protein	21998720; 24386269;
D003300	Copper	Copper results in decreased expression of CBS mRNA	24603357
D003300	Copper	Copper results in decreased expression of CBS mRNA	22465980
D019327	Copper Sulfate	Copper Sulfate results in increased expression of CBS mRNA	19549813
D003471	Cuprizone	Cuprizone results in increased expression of CBS mRNA	27523638
D016572	Cyclosporine	Cyclosporine affects the expression of CBS mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in increased expression of CBS mRNA	20106945; 21632981; 27989131;
D003540	Cystathionine	[CBS protein results in increased metabolism of Homocysteine] which results in increased chemical synthesis of Cystathionine	23665415
D003545	Cysteine	Cysteine inhibits the reaction [[CBS protein co-treated with Methylmercury Compounds] results in increased chemical synthesis of methylmercury sulfide]	21951228
D004008	Diclofenac	Diclofenac affects the expression of CBS mRNA	24752500
D004041	Dietary Fats	[Streptozocin co-treated with Dietary Fats] results in decreased expression of CBS mRNA	29127188
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of CBS mRNA	19245819
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of CBS mRNA	17602206
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of CBS mRNA	28943392
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of CBS mRNA	19638242
D013196	Dihydrotestosterone	Dihydrotestosterone results in decreased expression of CBS protein	17854288
D015232	Dinoprostone	CBS protein inhibits the reaction [Rotenone results in increased abundance of Dinoprostone]	25086357
D004147	Dioxins	Dioxins affects the expression of CBS mRNA	20463971
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of CBS mRNA	29391264
C118739	entinostat	entinostat results in increased expression of CBS mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
D004785	Environmental Pollutants	Environmental Pollutants results in decreased expression of CBS mRNA	20064776
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of CBS protein	23301498
D000431	Ethanol	Ethanol results in decreased expression of CBS mRNA	28986285
D000431	Ethanol	Ethanol results in increased expression of CBS mRNA	30319688
D000431	Ethanol	[Ethanol co-treated with Folic Acid deficiency] results in increased activity of CBS protein	16792574
D005472	Fluorouracil	TP53 protein affects the reaction [Fluorouracil results in decreased expression of CBS mRNA]	15016801
D005492	Folic Acid	[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of CBS mRNA	23439872
D005492	Folic Acid	[Choline deficiency co-treated with Folic Acid deficiency co-treated with Methionine deficiency] results in decreased expression of CBS mRNA	29127188
D005492	Folic Acid	Folic Acid results in increased expression of CBS mRNA	22959928
D005492	Folic Acid	[Ethanol co-treated with Folic Acid deficiency] results in increased activity of CBS protein	16792574
D005492	Folic Acid	Folic Acid deficiency results in increased activity of CBS protein	16792574
D005557	Formaldehyde	Formaldehyde results in increased expression of CBS mRNA	27664576
D005557	Formaldehyde	Formaldehyde results in increased expression of CBS protein	27664576
D005557	Formaldehyde	CBS protein affects the reaction [Formaldehyde results in increased abundance of Hydrogen Sulfide]	23359814
D005557	Formaldehyde	CBS protein affects the reaction [Formaldehyde results in increased abundance of Reactive Oxygen Species]	23359814
D005557	Formaldehyde	Formaldehyde results in decreased expression of CBS protein	23359814
D005557	Formaldehyde	[Formaldehyde results in decreased expression of CBS protein] which results in decreased abundance of Hydrogen Sulfide	23359814
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of CBS mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of CBS mRNA	29432896
D019833	Genistein	Genistein results in decreased expression of CBS mRNA	28988043
D005947	Glucose	Glucose results in increased expression of CBS mRNA	17178593
D005978	Glutathione	CBS gene mutant form results in decreased abundance of Glutathione	15016621
C529376	GYY 4137	GYY 4137 inhibits the reaction [Sodium Chloride, Dietary results in decreased expression of CBS protein]	28185984
D006540	Herbicides	[Herbicides co-treated with 1-aminomethylphosphonic acid] results in decreased expression of CBS mRNA	20566314
D006710	Homocysteine	CBS protein affects the abundance of Homocysteine	23024785
D006710	Homocysteine	CBS protein affects the abundance of Homocysteine metabolite	19204075
D006710	Homocysteine	CBS protein results in increased metabolism of Homocysteine	23665415
D006710	Homocysteine	[CBS protein results in increased metabolism of Homocysteine] which results in increased chemical synthesis of Cystathionine	23665415
D006862	Hydrogen Sulfide	CBS protein results in increased chemical synthesis of Hydrogen Sulfide	21951228
D006862	Hydrogen Sulfide	[CBS protein results in increased chemical synthesis of Hydrogen Sulfide] which results in decreased susceptibility to Methylmercury Compounds	21951228
D006862	Hydrogen Sulfide	CBS gene mutant form results in decreased chemical synthesis of Hydrogen Sulfide	31283913
D006862	Hydrogen Sulfide	CBS protein results in increased abundance of Hydrogen Sulfide	25086357
D006862	Hydrogen Sulfide	CBS protein affects the reaction [Formaldehyde results in increased abundance of Hydrogen Sulfide]	23359814
D006862	Hydrogen Sulfide	CBS protein results in increased abundance of Hydrogen Sulfide	23359814
D006862	Hydrogen Sulfide	[Formaldehyde results in decreased expression of CBS protein] which results in decreased abundance of Hydrogen Sulfide	23359814
D006862	Hydrogen Sulfide	CBS results in increased chemical synthesis of Hydrogen Sulfide	25205294
C031927	hydroquinone	hydroquinone results in increased expression of CBS mRNA	31256213
D019811	Hydroxylamine	Hydroxylamine promotes the reaction [Sodium Chloride, Dietary results in decreased expression of CBS protein]	28185984
C492448	ICG 001	ICG 001 results in increased expression of CBS mRNA	26191083
D007213	Indomethacin	Indomethacin results in increased expression of CBS mRNA	17401462
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of CBS mRNA	25613284
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of CBS mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of CBS mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of CBS mRNA	24796395; 26752646;
C410337	K 7174	K 7174 results in increased expression of CBS mRNA	24086573
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of CBS mRNA	25613284
C025340	manganese chloride	manganese chloride results in decreased expression of CBS mRNA	28801915
D008701	Methapyrilene	Methapyrilene results in decreased expression of CBS mRNA	16393664
D008715	Methionine	[Choline deficiency co-treated with Folic Acid deficiency co-treated with Methionine deficiency] results in decreased expression of CBS mRNA	29127188
D008748	Methylcholanthrene	Methylcholanthrene results in decreased expression of CBS mRNA	18804290
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of CBS mRNA	23103053
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of CBS mRNA	23179753; 26272509;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
D008767	Methylmercury Compounds	CBS protein results in decreased susceptibility to Methylmercury Compounds	21951228
D008767	Methylmercury Compounds	[CBS protein results in increased chemical synthesis of Hydrogen Sulfide] which results in decreased susceptibility to Methylmercury Compounds	21951228
D008767	Methylmercury Compounds	Cysteine inhibits the reaction [[CBS protein co-treated with Methylmercury Compounds] results in increased chemical synthesis of methylmercury sulfide]	21951228
D008767	Methylmercury Compounds	Methylmercury Compounds affects the expression of CBS mRNA	21664453
C108833	methylmercury sulfide	Cysteine inhibits the reaction [[CBS protein co-treated with Methylmercury Compounds] results in increased chemical synthesis of methylmercury sulfide]	21951228
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of CBS mRNA	23649840
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate affects the expression of CBS mRNA	21195148
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of CBS mRNA	21195148
C500085	muraglitazar	muraglitazar results in increased expression of CBS mRNA	21515302
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of CBS mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of CBS mRNA	25554681
C022838	nickel chloride	nickel chloride affects the expression of CBS mRNA	22110744
D017672	Nitrogen Compounds	[APOA4 protein co-treated with CBS protein] affects the abundance of Nitrogen Compounds	18224302
D017672	Nitrogen Compounds	Simvastatin inhibits the reaction [[APOA4 protein co-treated with CBS protein] affects the abundance of Nitrogen Compounds]	18224302
D009585	Nitrogen Dioxide	Nitrogen Dioxide results in decreased activity of CBS protein	19733148
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in decreased expression of CBS mRNA	17616710
C002741	N-nitrosomorpholine	N-nitrosomorpholine results in increased expression of CBS protein	19716841
D010100	Oxygen	CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]	31283913
D010100	Oxygen	[CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]] which results in increased acetylation of RELA protein	31283913
D010100	Oxygen	[CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]] which results in increased expression of IL1B protein	31283913
D010100	Oxygen	[CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]] which results in increased expression of IL6 protein	31283913
D010100	Oxygen	[CBS gene mutant form results in increased susceptibility to [Blood Glucose deficiency co-treated with Oxygen deficiency]] which results in increased expression of TNF protein	31283913
D010100	Oxygen	Oxygen results in increased expression of CBS protein	27273718
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of CBS mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of CBS mRNA	29432896
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of CBS mRNA	26705709
C023036	perfluorooctanoic acid	perfluorooctanoic acid affects the expression of CBS mRNA	18281256
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of CBS mRNA	18804290
D030421	Peroxynitrous Acid	4-hydroxyphenylacetic acid inhibits the reaction [Peroxynitrous Acid results in decreased activity of CBS protein]	19733148
D030421	Peroxynitrous Acid	Peroxynitrous Acid results in decreased activity of CBS protein	19733148
C031181	phenanthrene	phenanthrene results in increased expression of CBS mRNA	19457238
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of CBS mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in decreased expression of CBS mRNA	19270015; 19482888;
D010634	Phenobarbital	Phenobarbital results in increased expression of CBS mRNA	19162173
C006253	pirinixic acid	pirinixic acid results in decreased expression of CBS mRNA	23811191
C006253	pirinixic acid	pirinixic acid results in decreased expression of CBS mRNA	17164430
D010936	Plant Extracts	Plant Extracts results in decreased expression of CBS mRNA	23557933
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of CBS mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of CBS mRNA	29432896
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of CBS mRNA	23608068
D011374	Progesterone	Progesterone results in decreased expression of CBS mRNA	23018184
D011374	Progesterone	Progesterone results in increased expression of CBS mRNA	21795739
D011374	Progesterone	Progesterone results in increased expression of CBS mRNA	22238285
C045950	propiconazole	propiconazole results in decreased expression of CBS mRNA	21278054
C015586	propiverine	propiverine binds to CBS protein	29273565
D011794	Quercetin	Quercetin results in decreased expression of CBS mRNA	21632981
D017382	Reactive Oxygen Species	CBS protein affects the reaction [Formaldehyde results in increased abundance of Reactive Oxygen Species]	23359814
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of CBS mRNA	25572481
D000077154	Rosiglitazone	Rosiglitazone results in increased expression of CBS mRNA	21515302
D012402	Rotenone	Rotenone results in increased expression of CBS mRNA	24810058
D012402	Rotenone	Acetylcysteine inhibits the reaction [Rotenone results in decreased expression of CBS protein]	25086357
D012402	Rotenone	CBS protein inhibits the reaction [Rotenone results in decreased expression of IL10 mRNA]	25086357
D012402	Rotenone	CBS protein inhibits the reaction [Rotenone results in increased abundance of Dinoprostone]	25086357
D012402	Rotenone	CBS protein inhibits the reaction [Rotenone results in increased expression of NOS2 mRNA]	25086357
D012402	Rotenone	CBS protein inhibits the reaction [Rotenone results in increased expression of TNF mRNA]	25086357
D012402	Rotenone	Rotenone results in decreased expression of CBS mRNA	25086357
D012402	Rotenone	Rotenone results in decreased expression of CBS protein	25086357
D012436	S-Adenosylmethionine	S-Adenosylmethionine results in increased activity of CBS protein	23665415
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of CBS mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of CBS mRNA	25351596
D019821	Simvastatin	Simvastatin inhibits the reaction [[APOA4 protein co-treated with CBS protein] affects the abundance of Nitrogen Compounds]	18224302
D019821	Simvastatin	Simvastatin promotes the reaction [[APOA4 protein co-treated with CBS protein] affects the expression of CAV1 protein]	18224302
C017947	sodium arsenite	sodium arsenite results in decreased expression of CBS protein	24866292
C017947	sodium arsenite	sodium arsenite results in increased expression of CBS protein	29459688
D017673	Sodium Chloride, Dietary	GYY 4137 inhibits the reaction [Sodium Chloride, Dietary results in decreased expression of CBS protein]	28185984
D017673	Sodium Chloride, Dietary	Hydroxylamine promotes the reaction [Sodium Chloride, Dietary results in decreased expression of CBS protein]	28185984
D017673	Sodium Chloride, Dietary	Sodium Chloride, Dietary results in decreased expression of CBS protein	28185984
D018038	Sodium Selenite	Sodium Selenite results in increased expression of CBS mRNA	24383545
D013311	Streptozocin	[Streptozocin co-treated with Dietary Fats] results in decreased expression of CBS mRNA	29127188
D000077210	Sunitinib	Sunitinib results in increased expression of CBS mRNA	31533062
D013481	Superoxides	CBS protein affects the abundance of Superoxides	23024785
D013481	Superoxides	SMPD1 protein affects the reaction [CBS protein affects the abundance of Superoxides]	23024785
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of CBS mRNA	15336504; 27509014;
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased methylation of CBS gene	27509014
C501413	tesaglitazar	tesaglitazar results in increased expression of CBS mRNA	21515302
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of CBS mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CBS mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of CBS mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of CBS mRNA	16214954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CBS mRNA	19770486; 28213091;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CBS mRNA	21215274; 21724226;
D013750	Tetrachloroethylene	Tetrachloroethylene results in decreased expression of CBS mRNA	28973375
D013752	Tetracycline	Tetracycline results in decreased expression of CBS mRNA	24489787
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of CBS mRNA	25613284
D013853	Thioacetamide	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of CBS mRNA	28943392
D013853	Thioacetamide	Thioacetamide results in decreased expression of CBS mRNA	23411599
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of CBS mRNA	28065790
D014212	Tretinoin	Tretinoin results in decreased expression of CBS mRNA	19960509; 23724009;
D014212	Tretinoin	Tretinoin results in decreased expression of CBS protein	19960509
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of CBS mRNA	24935251; 26272509;
D014284	Triiodothyronine	Triiodothyronine results in increased expression of CBS mRNA	22281776
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of CBS mRNA	26179874
D000077288	Troglitazone	Troglitazone results in increased expression of CBS mRNA	21515302
D014415	Tunicamycin	Tunicamycin results in increased expression of CBS mRNA	29453283
C005460	uranyl acetate	uranyl acetate results in decreased expression of CBS protein	26523793; 26991019;
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CBS mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of CBS mRNA	23179753; 24383497; 26272509;
D014640	Vancomycin	Vancomycin results in increased expression of CBS mRNA	18930951
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of CBS mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0021	Allosteric enzyme
KW-0025	Alternative splicing
KW-0028	Amino-acid biosynthesis
KW-0129	CBS domain
KW-0198	Cysteine biosynthesis
KW-0963	Cytoplasm
KW-0225	Disease mutation
KW-0349	Heme
KW-0408	Iron
KW-1017	Isopeptide bond
KW-0456	Lyase
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0663	Pyridoxal phosphate
KW-1185	Reference proteome
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR000644	CBS_dom
IPR005857	Cysta_beta_synth
IPR001216	P-phosphate_BS
IPR001926	PLP-dep
IPR036052	Trypto_synt_PLP_dependent

PROSITE

PROSITE ID	PROSITE Term
PS51371	CBS
PS00901	CYS_SYNTHASE

Pfam

Pfam ID	Pfam Term
PF00571	CBS
PF00291	PALP

Gene: CBS

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction