List of variants in gene CBS reported as likely pathogenic for homocystinuria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 201

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	rs148865119	0.00013
NM_000071.3(CBS):c.362G>A (p.Arg121His)	rs770095972	0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	rs758236584	0.00010
NM_000071.3(CBS):c.572C>T (p.Thr191Met)	rs121964973	0.00006
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00004
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	rs771298943	0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	rs121964972	0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	rs769080151	0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	rs863223434	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)	rs121964965	0.00003
NM_000071.3(CBS):c.737-1G>C	rs757428597	0.00003
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	rs143124288	0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	rs149119723	0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	rs398123151	0.00002
NM_000071.3(CBS):c.301C>G (p.Leu101Val)	rs369644531	0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	rs778220779	0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	rs775992753	0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	rs121964966	0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs)	rs775351239	0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala)	rs781567152	0.00002
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	rs760417941	0.00001
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)	rs745764562	0.00001
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	rs757920190	0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met)	rs372010465	0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	rs763036586	0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	rs121964971	0.00001
NM_000071.3(CBS):c.28del (p.Val10fs)	rs779250698	0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	rs886057100	0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	rs755952006	0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	rs121964969	0.00001
NM_000071.3(CBS):c.828+1G>A	rs763290176	0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	rs758447354	0.00001
NC_000021.8:g.(?_44473450)_(44485825_?)del
NC_000021.8:g.(?_44476893)_(44480676_?)del
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NM_000071.3(CBS):c.1006C>A (p.Arg336Ser)
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)	rs760417941
NM_000071.3(CBS):c.1007G>T (p.Arg336Leu)
NM_000071.3(CBS):c.1009_1012del (p.Arg336_Met337insTer)	rs1555873925
NM_000071.3(CBS):c.1013T>C (p.Leu338Pro)
NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)
NM_000071.3(CBS):c.1039+1G>A
NM_000071.3(CBS):c.1039+2T>C
NM_000071.3(CBS):c.1039+2T>G
NM_000071.3(CBS):c.1039+5G>C	rs777956934
NM_000071.3(CBS):c.1040-2A>G
NM_000071.3(CBS):c.1045A>G (p.Ser349Gly)
NM_000071.3(CBS):c.1047T>G (p.Ser349Arg)
NM_000071.3(CBS):c.1056C>G (p.Ser352Arg)
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)
NM_000071.3(CBS):c.1111G>C (p.Val371Leu)
NM_000071.3(CBS):c.1135C>G (p.Arg379Gly)
NM_000071.3(CBS):c.1145+1G>A
NM_000071.3(CBS):c.1145+1G>C
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu)	rs121964967
NM_000071.3(CBS):c.1179del (p.Lys394fs)
NM_000071.3(CBS):c.1210G>T (p.Glu404Ter)	rs1981682654
NM_000071.3(CBS):c.1218del (p.Lys406fs)	rs794727083
NM_000071.3(CBS):c.1219_1223+8del	rs1555872787
NM_000071.3(CBS):c.1221del (p.Trp408fs)	rs1361324844
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)	rs863223433
NM_000071.3(CBS):c.1229G>A (p.Trp410Ter)
NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)
NM_000071.3(CBS):c.1288_1289del (p.Thr430fs)
NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)
NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	rs1057516645
NM_000071.3(CBS):c.1341del (p.Val448fs)	rs2146340713
NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)
NM_000071.3(CBS):c.1358+1G>A	rs786204679
NM_000071.3(CBS):c.1358+2T>A
NM_000071.3(CBS):c.1358+2T>C	rs866630296
NM_000071.3(CBS):c.1359-1G>C	rs865990681
NM_000071.3(CBS):c.1359-2A>T
NM_000071.3(CBS):c.1361T>A (p.Val454Glu)
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)	rs1981524462
NM_000071.3(CBS):c.1391dup (p.Met464fs)
NM_000071.3(CBS):c.139G>A (p.Asp47Asn)
NM_000071.3(CBS):c.140A>C (p.Asp47Ala)	rs2146427913
NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)
NM_000071.3(CBS):c.1467+1G>A	rs111687029
NM_000071.3(CBS):c.1468-1G>A	rs1057516895
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)	rs1555871188
NM_000071.3(CBS):c.153_165del (p.Arg51fs)	rs1555876784
NM_000071.3(CBS):c.1545del (p.Ile516fs)	rs1555871095
NM_000071.3(CBS):c.154T>A (p.Cys52Ser)	rs2146427772
NM_000071.3(CBS):c.1552+1G>A	rs1434118781
NM_000071.3(CBS):c.1553-1G>C	rs1555869979
NM_000071.3(CBS):c.1553-2A>C	rs760609383
NM_000071.3(CBS):c.1566del (p.Lys523fs)	rs786204466
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)	rs1555869958
NM_000071.3(CBS):c.1603_1604del (p.Thr535fs)	rs1555869934
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)	rs121964968
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)	rs199948079
NM_000071.3(CBS):c.18_36del (p.Glu9fs)	rs1057516552
NM_000071.3(CBS):c.194A>T (p.His65Leu)
NM_000071.3(CBS):c.208_209+8del	rs1983427704
NM_000071.3(CBS):c.209+1G>C	rs751464024
NM_000071.3(CBS):c.209+1G>T
NM_000071.3(CBS):c.209+1_209+8del	rs2146427112
NM_000071.3(CBS):c.209+2T>C	rs1555876755
NM_000071.3(CBS):c.210-1G>C	rs2146414477
NM_000071.3(CBS):c.210-2A>C
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)	rs786204608
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)	rs2146413970
NM_000071.3(CBS):c.263C>G (p.Pro88Arg)
NM_000071.3(CBS):c.284T>A (p.Ile95Asn)
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)	rs1347662650
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	rs786204757
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)	rs786204609
NM_000071.3(CBS):c.316+1G>A	rs1057516256
NM_000071.3(CBS):c.316+2_316+3del
NM_000071.3(CBS):c.317-2A>G	rs2146395543
NM_000071.3(CBS):c.323del (p.Lys108fs)
NM_000071.3(CBS):c.326G>A (p.Cys109Tyr)
NM_000071.3(CBS):c.340G>A (p.Ala114Thr)	rs377708532
NM_000071.3(CBS):c.340G>T (p.Ala114Ser)	rs377708532
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	rs760214620
NM_000071.3(CBS):c.353_362del (p.Val118fs)
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)	rs1982750491
NM_000071.3(CBS):c.361C>G (p.Arg121Gly)
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)	rs770095972
NM_000071.3(CBS):c.369C>A (p.Ser123Arg)	rs1555875387
NM_000071.3(CBS):c.371_374dup (p.Met126fs)	rs755625628
NM_000071.3(CBS):c.402del (p.Thr135fs)	rs1057517083
NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs)	rs1555875325
NM_000071.3(CBS):c.407T>C (p.Leu136Pro)
NM_000071.3(CBS):c.429C>G (p.Ile143Met)	rs370167302
NM_000071.3(CBS):c.430G>T (p.Glu144Ter)	rs121964966
NM_000071.3(CBS):c.434C>G (p.Pro145Arg)
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	rs121964963
NM_000071.3(CBS):c.437del (p.Thr146fs)
NM_000071.3(CBS):c.443G>C (p.Gly148Ala)
NM_000071.3(CBS):c.451+1G>T	rs1555875292
NM_000071.3(CBS):c.452-1G>A
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	rs745704046
NM_000071.3(CBS):c.467del (p.Leu156fs)	rs767036273
NM_000071.3(CBS):c.472G>A (p.Ala158Thr)
NM_000071.3(CBS):c.481del (p.Arg161fs)	rs2146387904
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970
NM_000071.3(CBS):c.503_504del (p.Val168fs)
NM_000071.3(CBS):c.526G>C (p.Glu176Gln)
NM_000071.3(CBS):c.527A>G (p.Glu176Gly)
NM_000071.3(CBS):c.528G>C (p.Glu176Asp)
NM_000071.3(CBS):c.529A>T (p.Lys177Ter)	rs1982601982
NM_000071.3(CBS):c.531+1G>A
NM_000071.3(CBS):c.531+1G>T	rs1207298097
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
NM_000071.3(CBS):c.588del (p.Arg196fs)
NM_000071.3(CBS):c.606dup (p.His203fs)
NM_000071.3(CBS):c.637G>T (p.Glu213Ter)	rs758703098
NM_000071.3(CBS):c.667-14_667-7del	rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000071.3(CBS):c.676G>T (p.Ala226Ser)
NM_000071.3(CBS):c.677C>A (p.Ala226Asp)
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	rs1555874803
NM_000071.3(CBS):c.689T>A (p.Leu230Gln)
NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs)	rs1057517435
NM_000071.3(CBS):c.715G>T (p.Glu239Ter)	rs1982493665
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
NM_000071.3(CBS):c.736_736+8del
NM_000071.3(CBS):c.738del	rs766453711
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	rs1176770868
NM_000071.3(CBS):c.767G>T (p.Gly256Val)
NM_000071.3(CBS):c.776G>A (p.Gly259Asp)
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
NM_000071.3(CBS):c.796A>G (p.Arg266Gly)
NM_000071.3(CBS):c.808_810del (p.Glu270del)	rs760710691
NM_000071.3(CBS):c.808_828+5del
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	rs528689432
NM_000071.3(CBS):c.829-1G>C	rs1555874263
NM_000071.3(CBS):c.829-1G>T
NM_000071.3(CBS):c.829-1_829insGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGGTCACTGGGGTGGATCATCCAGGT
NM_000071.3(CBS):c.833T>G (p.Ile278Ser)
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	rs141502207
NM_000071.3(CBS):c.862G>C (p.Ala288Pro)	rs141502207
NM_000071.3(CBS):c.869C>T (p.Pro290Leu)	rs760912339
NM_000071.3(CBS):c.883C>T (p.Gln295Ter)
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)	rs746575551
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	rs779270933
NM_000071.3(CBS):c.920G>A (p.Gly307Asp)
NM_000071.3(CBS):c.920G>C (p.Gly307Ala)
NM_000071.3(CBS):c.920G>T (p.Gly307Val)
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
NM_000071.3(CBS):c.954+1G>A	rs1057517373
NM_000071.3(CBS):c.954+2T>G	rs1555874121
NM_000071.3(CBS):c.955-2A>C
NM_000071.3(CBS):c.955-2A>G
NM_000071.3(CBS):c.955-2A>T
NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs)
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	rs863223432
NM_000071.3(CBS):c.978del (p.Ser326fs)
NM_000071.3(CBS):c.98del (p.Pro33fs)	rs2146428203
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	rs777919630
NM_000071.3(CBS):c.992C>T (p.Ala331Val)	rs777919630

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