Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	SNV Germline	Chr21:43062988	Pathogenic	Homocystinuria, pyridoxine-nonresponsive HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Classic homocystinuria Homocystinuria CBS-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113874	rs_121964962	17 SubmittersRCV000000137 RCV000000138 RCV000078112 RCV000173641 RCV000366433 RCV003914786 RCV002313701
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	SNV Germline	Chr21:43066260	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-responsive Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA113876	rs_121964963	6 SubmittersRCV000000139 RCV000625555 RCV001250193 RCV002227955
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	SNV Germline	Chr21:43066353	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-responsive Condition: not provided Homocystinuria Classic homocystinuria CBS-related disorder HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113878	rs_121964964	18 SubmittersRCV000000140 RCV000200823 RCV000590659 RCV000490533 RCV003952330 RCV002227956 RCV002453244
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	SNV Germline	Chr21:43063074	Pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria, pyridoxine-responsive Condition: not provided Classic homocystinuria Homocystinuria Intellectual disability Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder Thoracic aortic aneurysm or dissection See cases	Criteria Provided Multiple Submitters No Conflicts	CA113880	rs_5742905	35 SubmittersRCV000000142 RCV000000141 RCV000078111 RCV000173640 RCV000781197 RCV001252178 RCV002310621 RCV002276525 RCV004584135 RCV003128384
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)	SNV Germline	Chr21:43066279	Conflicting classifications of pathogenicity	Homocystinuria, pyridoxine-responsive not specified HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA113883	rs_121964965	3 SubmittersRCV000000143 RCV002468954 RCV003764500
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	SNV Germline	Chr21:43066264	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-responsive Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA113885	rs_121964966	12 SubmittersRCV000000144 RCV000169074 RCV000723427 RCV001251284 RCV002227957 RCV003415595
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu)	SNV Germline	Chr21:43059299	Likely pathogenic	Homocystinuria, pyridoxine-responsive HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter	CA113887	rs_121964967	2 SubmittersRCV000000145 RCV003495103
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)	SNV Germline	Chr21:43053920	Conflicting classifications of pathogenicity	Homocystinuria, pyridoxine-responsive Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA113889	rs_121964968	4 SubmittersRCV000000146 RCV000675072 RCV002468955 RCV003597960
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	SNV Germline	Chr21:43063931	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-responsive Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113891	rs_121964969	7 SubmittersRCV000000147 RCV000469164 RCV001192721 RCV002227958 RCV001546787 RCV002313702
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	SNV Germline	Chr21:43058862	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria, pyridoxine-responsive Condition: not provided Classic homocystinuria Homocystinuria Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113893	rs_28934891	12 SubmittersRCV000000149 RCV000000148 RCV000078108 RCV000174656 RCV000781196 RCV002381232
NM_000071.3(CBS):c.502G>A (p.Val168Met)	SNV Germline	Chr21:43065645	Conflicting classifications of pathogenicity	Homocystinuria, pyridoxine-responsive Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Homocystinuria Familial hypercholesterolemia	Criteria Provided Conflicting Classifications	CA113895	rs_121964970	10 SubmittersRCV000000150 RCV000179250 RCV000458159 RCV002227959 RCV002310622 RCV002265542 RCV004540986
NM_000071.3(CBS):c.1224-2A>C	SNV Germline	Chr21:43058970	Pathogenic	Homocystinuria, pyridoxine-responsive Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113897	rs_375846341	17 SubmittersRCV000000151 RCV000174658 RCV000198380 RCV000590542 RCV002227960 RCV003944786 RCV002354142
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	SNV Germline	Chr21:43058215	Conflicting classifications of pathogenicity	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA113900	rs_121964971	7 SubmittersRCV000000153 RCV000675119 RCV002390082 RCV003226154
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	SNV Germline	Chr21:43060528	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-nonresponsive Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA113902	rs_121964972	11 SubmittersRCV000000154 RCV000078106 RCV000169466 RCV002227961 RCV004018522 RCV002271361
NM_000071.3(CBS):c.572C>T (p.Thr191Met)	SNV Germline	Chr21:43065481	Pathogenic/Likely pathogenic	Homocystinuria, pyridoxine-nonresponsive Condition: not provided Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113904	rs_121964973	13 SubmittersRCV000000155 RCV000195441 RCV000576767 RCV000589097 RCV002227962 RCV003914787 RCV004018523
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter)	SNV Germline	Chr1:11800251	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Abnormality of metabolism/homeostasis	Criteria Provided Multiple Submitters No Conflicts	CA278050	rs_121434294	5 SubmittersRCV001209716 RCV001813944
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)	SNV Germline	Chr1:11801166	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA278053	rs_121434295	5 SubmittersRCV001382824 RCV002476918 RCV003460410
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser)	SNV Germline	Chr1:11795158	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA278055	rs_267606887	2 SubmittersRCV002225067
NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly)	SNV Germline	Chr1:11795114	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA278057	rs_267606886	2 SubmittersRCV001851626
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)	SNV Germline	Chr1:11794766	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications	CA278059	rs_121434296	6 SubmittersRCV000642247 RCV000756357 RCV003460411
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)	SNV Germline	Chr1:11795161	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA278061	rs_121434297	3 SubmittersRCV002512718 RCV003466798
NM_014270.5(SLC7A9):c.508G>A (p.Val170Met)	SNV Germline	Chr19:32862557	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA117721	rs_121908479	2 SubmittersRCV000006136
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	SNV Germline	Chr19:32864261	Pathogenic/Likely pathogenic	Cystinuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117723	rs_121908480	12 SubmittersRCV000006137 RCV000523825
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	SNV Germline	Chr19:32862521	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA211245	rs_79389353	15 SubmittersRCV000006138 RCV000480556 RCV004018572
NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)	SNV Germline	Chr19:32862482	Pathogenic	Cystinuria	No Assertion Criteria Provided	CA117725	rs_121908482	1 SubmittersRCV000006139
NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg)	SNV Germline	Chr19:32859939	Likely pathogenic	Cystinuria Condition: not provided	Criteria Provided Single Submitter	CA117727	rs_121908483	2 SubmittersRCV000006140 RCV000793254
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)	SNV Germline	Chr19:32843932	Pathogenic/Likely pathogenic	Cystinuria Condition: not provided SLC7A9-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117729	rs_121908484	7 SubmittersRCV000006143 RCV000801232 RCV003398451
NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr)	SNV Germline	Chr19:32864733	Pathogenic	Cystinuria	No Assertion Criteria Provided	CA117731	rs_121908485	1 SubmittersRCV000006144
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)	SNV Germline	Chr19:32864206	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA117737	rs_79987078	10 SubmittersRCV000006149 RCV001390782
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	SNV Germline	Chr2:44312653	Pathogenic/Likely pathogenic	Cystinuria Condition: not provided Inborn genetic diseases See cases	Criteria Provided Multiple Submitters No Conflicts	CA127830	rs_121912691	24 SubmittersRCV000019743 RCV000413736 RCV004018645 RCV002251914
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)	SNV Germline	Chr2:44312653	Conflicting classifications of pathogenicity	Cystinuria SLC3A1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA127831	rs_121912691	8 SubmittersRCV000019744 RCV003415724 RCV001580112
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro)	SNV Germline	Chr2:44320614	Pathogenic	Cystinuria	No Assertion Criteria Provided	CA127832	rs_121912693	1 SubmittersRCV000019745
NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln)	SNV Germline	Chr2:44280827	Pathogenic	Cystinuria	No Assertion Criteria Provided	CA127833	rs_121912694	1 SubmittersRCV000019746
NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg)	SNV Germline	Chr2:44320536	Pathogenic	Cystinuria	No Assertion Criteria Provided	CA127834	rs_121912695	1 SubmittersRCV000019747
NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn)	SNV Germline	Chr2:44313931	Pathogenic	Cystinuria	No Assertion Criteria Provided	CA130075	rs_387907276	1 SubmittersRCV000030727
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)	SNV Germline	Chr14:74292623	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblJ Condition: not provided Cobalamin C disease	Criteria Provided Conflicting Classifications	CA130166	rs_201777056	4 SubmittersRCV000030859 RCV000059785 RCV002265570
NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys)	SNV Germline	Chr14:74289483	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	No Assertion Criteria Provided		rs_2080853826	1 SubmittersRCV000030862
NM_005334.3(HCFC1):c.-970T>C	SNV Germline	ChrX:153971810	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX	No Assertion Criteria Provided	CA130459	rs_398122908	1 SubmittersRCV000032896
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)	SNV Germline	ChrX:153963263	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	No Assertion Criteria Provided	CA130460	rs_318240758	2 SubmittersRCV000032897 RCV000059786
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)	SNV Germline	ChrX:153964283	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX Disorders of Intracellular Cobalamin Metabolism	Criteria Provided Multiple Submitters No Conflicts	CA144900	rs_397515485	5 SubmittersRCV000057506 RCV002513743
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)	SNV Germline	ChrX:153964702	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Intellectual disability Condition: not provided Disorders of Intracellular Cobalamin Metabolism Cobalamin C disease	Criteria Provided Conflicting Classifications	CA144902	rs_397515486	6 SubmittersRCV000057507 RCV000224133 RCV000224484 RCV002513744 RCV001199845
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)	SNV Germline	ChrX:153964703	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX Disorders of Intracellular Cobalamin Metabolism	No Assertion Criteria Provided	CA144904	rs_397515487	2 SubmittersRCV000057508 RCV002513745
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	SNV Germline	Chr21:43062344	Pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274154	rs_398123151	14 SubmittersRCV000078105 RCV000169310 RCV002228199 RCV001280568 RCV003905038
NM_000071.3(CBS):c.435G>A (p.Pro145=)	SNV Germline	Chr21:43066259	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA220355	rs_148782895	4 SubmittersRCV000078109 RCV001088690 RCV002228201 RCV003343633
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)	SNV Germline	ChrX:153960046	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA222863	rs_398124206	2 SubmittersRCV000081289 RCV003638617
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)	SNV Germline	ChrX:153955109	Conflicting classifications of pathogenicity	Condition: not provided not specified Methylmalonic acidemia with homocystinuria, type cblX HCFC1-related disorder	Criteria Provided Conflicting Classifications	CA231158	rs_201404751	8 SubmittersRCV000117215 RCV000599889 RCV001520721 RCV003952568
NM_000071.3(CBS):c.829-13G>A	SNV Germline	Chr21:43063091	Conflicting classifications of pathogenicity	not specified Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Conflicting Classifications	CA289976	rs_201106576	6 SubmittersRCV000124151 RCV000287047 RCV002227066 RCV002228268 RCV003915241
NM_000071.3(CBS):c.954+8G>A	SNV Germline	Chr21:43062945	Conflicting classifications of pathogenicity	not specified Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA302711	rs_76292057	7 SubmittersRCV000173642 RCV000536701 RCV002228270
NM_000071.3(CBS):c.*18G>A	SNV Germline	Chr21:43053862	Conflicting classifications of pathogenicity	not specified Classic homocystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA289979	rs_200259659	5 SubmittersRCV000124158 RCV001142671 RCV001698966
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)	SNV Germline	ChrX:153949579	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA234106	rs_199953428	2 SubmittersRCV000153346 RCV002056033
NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg)	SNV Germline	Chr1:11790682	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Single Submitter	CA198664	rs_768434408	2 SubmittersRCV000167626 RCV004567355
NM_005957.5(MTHFR):c.1883T>C (p.Leu628Pro)	SNV Germline	Chr1:11790768	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198661	rs_786204037	1 SubmittersRCV000167625
NM_005957.5(MTHFR):c.1808C>G (p.Ser603Cys)	SNV Germline	Chr1:11790843	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198658	rs_758206023	1 SubmittersRCV000167624
NM_005957.5(MTHFR):c.1753-18G>A	SNV Germline	Chr1:11790916	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198651	rs_777661576	3 SubmittersRCV000167621 RCV003462251
NM_005957.5(MTHFR):c.1752+1G>T	SNV Germline	Chr1:11791206	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198650	rs_747846362	3 SubmittersRCV000167620 RCV003468817
NM_005957.5(MTHFR):c.1724T>G (p.Val575Gly)	SNV Germline	Chr1:11791235	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198647	rs_786204031	1 SubmittersRCV000167619
NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter)	SNV Germline	Chr1:11791276	Pathogenic; risk factor	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198644	rs_786204030	3 SubmittersRCV000167618 RCV000709684 RCV003468816
NM_005957.5(MTHFR):c.1632+2T>G	SNV Germline	Chr1:11792276	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA198643	rs_749765738	6 SubmittersRCV000167617 RCV002492678 RCV003468815 RCV001753577
NM_005957.5(MTHFR):c.1530+2T>C	SNV Germline	Chr1:11793905	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198639	rs_786204027	1 SubmittersRCV000167615
NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp)	SNV Germline	Chr1:11793921	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA198636	rs_786204026	2 SubmittersRCV000167614
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)	SNV Germline	Chr1:11794385	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect Schizophrenia Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198633	rs_367585605	4 SubmittersRCV000167613 RCV002498831 RCV003462250
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)	SNV Germline	Chr1:11794443	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198630	rs_200137991	5 SubmittersRCV000167612 RCV001268212 RCV003462249
NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu)	SNV Germline	Chr1:11794781	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198626	rs_786204024	1 SubmittersRCV000167610
NM_005957.5(MTHFR):c.1042C>T (p.Pro348Ser)	SNV Germline	Chr1:11794853	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198617	rs_786204021	1 SubmittersRCV000167607
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)	SNV Germline	Chr1:11795125	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive not specified	Criteria Provided Conflicting Classifications	CA198614	rs_543016186	5 SubmittersRCV000167606 RCV003468814 RCV004526623
NM_005957.5(MTHFR):c.780+1G>T	SNV Germline	Chr1:11796205	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198613	rs_786204020	1 SubmittersRCV000167605
NM_005957.5(MTHFR):c.769T>G (p.Phe257Val)	SNV Germline	Chr1:11796217	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198610	rs_786204019	1 SubmittersRCV000167604
NM_005957.5(MTHFR):c.764G>T (p.Gly255Val)	SNV Germline	Chr1:11796222	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198604	rs_786204018	1 SubmittersRCV000167602
NM_005957.5(MTHFR):c.673A>C (p.Ile225Leu)	SNV Germline	Chr1:11796313	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198595	rs_200100285	1 SubmittersRCV000167599
NM_005957.5(MTHFR):c.587G>A (p.Gly196Asp)	SNV Germline	Chr1:11796399	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198589	rs_786204014	1 SubmittersRCV000167597
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	SNV Germline	Chr1:11800250	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198586	rs_574132670	7 SubmittersRCV000167596 RCV000993916 RCV003468813
NM_005957.5(MTHFR):c.440A>C (p.Gln147Pro)	SNV Germline	Chr1:11801196	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Single Submitter	CA198583	rs_786204013	2 SubmittersRCV000167595 RCV004567354
NM_005957.5(MTHFR):c.388T>C (p.Cys130Arg)	SNV Germline	Chr1:11801248	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198580	rs_786204012	1 SubmittersRCV000167594
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)	SNV Germline	Chr1:11801257	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency not specified	Criteria Provided Conflicting Classifications	CA198577	rs_769381688	3 SubmittersRCV000167593 RCV003323422
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr)	SNV Germline	Chr1:11801299	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198574	rs_147257424	3 SubmittersRCV000167592 RCV003462247
NM_005957.5(MTHFR):c.244C>T (p.Arg82Trp)	SNV Germline	Chr1:11801392	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198568	rs_786204009	1 SubmittersRCV000167590
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)	SNV Germline	Chr1:11802915	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198565	rs_763539350	6 SubmittersRCV000167589 RCV003462246
NM_005957.5(MTHFR):c.176G>C (p.Trp59Ser)	SNV Germline	Chr1:11802941	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA198562	rs_786204007	1 SubmittersRCV000167588
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)	SNV Germline	Chr1:11802980	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198559	rs_776483190	4 SubmittersRCV000167587 RCV003468812
NM_000071.3(CBS):c.1358+1G>A	SNV Germline	Chr21:43058833	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA274355	rs_786204679	3 SubmittersRCV000169487 RCV002228614
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	SNV Germline	Chr21:43058876	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA274364	rs_756467921	8 SubmittersRCV000169494 RCV000587586 RCV003153461 RCV003155100 RCV003298197
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	SNV Germline	Chr21:43060450	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA274005	rs_763036586	4 SubmittersRCV000169171 RCV000480748 RCV002517626
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	SNV Germline	Chr21:43062311	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA273978	rs_771298943	11 SubmittersRCV000169132 RCV000197584 RCV000780082 RCV002228607 RCV002390401
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	SNV Germline	Chr21:43063958	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided Hyperhomocysteinemia Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED See cases	Criteria Provided Multiple Submitters No Conflicts	CA274140	rs_758236584	9 SubmittersRCV000169294 RCV000197988 RCV000790997 RCV000780084 RCV002228778 RCV003128393
NM_000071.3(CBS):c.362G>A (p.Arg121His)	SNV Germline	Chr21:43066332	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA274172	rs_770095972	6 SubmittersRCV000169322 RCV002228611 RCV001192720 RCV002453568
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	SNV Germline	Chr21:43066348	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA273957	rs_760214620	5 SubmittersRCV000169116 RCV002228606 RCV001844063
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)	SNV Germline	Chr21:43068519	Conflicting classifications of pathogenicity	Classic homocystinuria not specified Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA274220	rs_786204609	4 SubmittersRCV000169368 RCV003226233 RCV002444680 RCV002515197
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	SNV Germline	Chr21:43068523	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA274473	rs_786204757	4 SubmittersRCV000169617 RCV001251397 RCV002228615
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)	SNV Germline	Chr21:43068592	Conflicting classifications of pathogenicity	Classic homocystinuria not specified Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA274218	rs_786204608	4 SubmittersRCV000169367 RCV003226232 RCV002444679 RCV002515196
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)	SNV Germline	Chr1:11792354	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA239275	rs_45449298	7 SubmittersRCV000173820 RCV000763727 RCV001081882 RCV003947466
NM_000071.3(CBS):c.992C>T (p.Ala331Val)	SNV Germline	Chr21:43062358	Likely pathogenic	Condition: not provided Intellectual disability HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA239449	rs_777919630	4 SubmittersRCV000173977 RCV001252181 RCV002516607 RCV003462276
NM_000071.3(CBS):c.1072G>A (p.Val358Met)	SNV Germline	Chr21:43060514	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA239721	rs_148589243	8 SubmittersRCV000474043 RCV000420634 RCV002415740 RCV002517673
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	SNV Germline	Chr21:43066320	Pathogenic	Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA275291	rs_781444670	10 SubmittersRCV000178709 RCV000723426 RCV001804908 RCV002228790
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	SNV Germline	Chr21:43063943	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA275440	rs_149119723	9 SubmittersRCV000180461 RCV000200469 RCV001251422 RCV002228800
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)	SNV Germline	Chr1:11794045	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA248138	rs_79157191	3 SubmittersRCV000180626 RCV001079521 RCV003967447
NM_005957.5(MTHFR):c.1515C>T (p.Gly505=)	SNV Germline	Chr1:11793922	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA248141	rs_376927238	2 SubmittersRCV000180627 RCV001493852
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)	SNV Germline	Chr21:43066332	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA275933	rs_770095972	3 SubmittersRCV000190373 RCV001857669
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)	SNV Germline	ChrX:153955043	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX not specified	Criteria Provided Conflicting Classifications	CA204892	rs_782727601	4 SubmittersRCV000190805 RCV001814098 RCV001818463
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)	SNV Germline	ChrX:153954709	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA206502	rs_782484757	2 SubmittersRCV000193189 RCV002054266
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)	SNV Germline	ChrX:153954907	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided HCFC1-related disorder	Criteria Provided Conflicting Classifications	CA209474	rs_376049260	7 SubmittersRCV000194960 RCV000638561 RCV001726038 RCV003947606
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)	SNV Germline	ChrX:153955273	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA208007	rs_782501125	2 SubmittersRCV000194081 RCV003522945
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)	SNV Germline	ChrX:153956356	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA209573	rs_374223163	2 SubmittersRCV000195023 RCV001400453
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)	SNV Germline	ChrX:153956951	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA207556	rs_371411952	2 SubmittersRCV000193817 RCV003522944
NM_005334.3(HCFC1):c.1084+8C>T	SNV Germline	ChrX:153960227	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA209242	rs_367698803	2 SubmittersRCV000194817 RCV003638641
NM_005334.3(HCFC1):c.984C>T (p.Val328=)	SNV Germline	ChrX:153960335	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA206536	rs_782409511	2 SubmittersRCV000193208 RCV003638642
NM_000071.3(CBS):c.1479G>A (p.Thr493=)	SNV Germline	Chr21:43056876	Conflicting classifications of pathogenicity	not specified Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320891	rs_143225442	8 SubmittersRCV000196475 RCV000471233 RCV001726039 RCV002229438 RCV002310757
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	SNV Germline	Chr21:43058912	Conflicting classifications of pathogenicity	Condition: not provided not specified Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA321746	rs_863223434	5 SubmittersRCV000197292 RCV000584030 RCV003462306 RCV002517170
NM_000071.3(CBS):c.1273G>A (p.Val425Met)	SNV Germline	Chr21:43058919	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA325175	rs_138211175	5 SubmittersRCV000592999 RCV000554628 RCV002315524 RCV002517169
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)	SNV Germline	Chr21:43059226	Likely pathogenic	Condition: not provided Classic homocystinuria	Criteria Provided Single Submitter	CA320559	rs_863223433	2 SubmittersRCV000196138 RCV001275690
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	SNV Germline	Chr21:43060451	Pathogenic/Likely pathogenic	Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA320740	rs_769080151	7 SubmittersRCV000196320 RCV001853130 RCV000763061 RCV003987440
NM_000071.3(CBS):c.1111G>A (p.Val371Met)	SNV Germline	Chr21:43060475	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Homocystinuria CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA320805	rs_372010465	9 SubmittersRCV000196393 RCV000410135 RCV002229026 RCV002433873 RCV003401061 RCV003895256
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	SNV Germline	Chr21:43060481	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided not specified Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA324371	rs_117687681	19 SubmittersRCV000231839 RCV000514877 RCV001526851 RCV002277461 RCV002310759 RCV003401060 RCV002517167
NM_000071.3(CBS):c.1059G>A (p.Thr353=)	SNV Germline	Chr21:43060527	Conflicting classifications of pathogenicity	not specified Classic homocystinuria Condition: not provided Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA322372	rs_61735859	8 SubmittersRCV000197907 RCV000230184 RCV001812186 RCV002277458 RCV002310756 RCV002517160
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	SNV Germline	Chr21:43062358	Pathogenic/Likely pathogenic	Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA323703	rs_777919630	4 SubmittersRCV000199169 RCV001778782 RCV002228833 RCV003462305
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	SNV Germline	Chr21:43062381	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA321445	rs_863223432	9 SubmittersRCV000197013 RCV000363392 RCV003495115
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)	SNV Germline	Chr21:43065239	Pathogenic	Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA324489	rs_773734233	4 SubmittersRCV000199941 RCV000586183 RCV002228832 RCV003462304
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	SNV Germline	Chr21:43065690	Conflicting classifications of pathogenicity	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Conflicting Classifications		rs_745704046	7 SubmittersRCV000689266 RCV000781198 RCV002228831 RCV003221852
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	SNV Germline	Chr21:43066300	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Intellectual disability Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not specified	Criteria Provided Conflicting Classifications	CA320193	rs_140002610	14 SubmittersRCV000460928 RCV000726351 RCV001252179 RCV002315523 RCV002517995 RCV003993881
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	SNV Germline	Chr21:43066333	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA321269	rs_775992753	5 SubmittersRCV000196859 RCV000475484 RCV001192722 RCV002229025
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	SNV Germline	Chr21:43066369	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA324303	rs_778220779	9 SubmittersRCV000199752 RCV000248928 RCV000535881 RCV000588375 RCV002229441
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)	SNV Germline	Chr21:43068572	Pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA319849	rs_863223435	6 SubmittersRCV000195506 RCV001063052 RCV002228834
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)	SNV Germline	Chr21:43068610	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection not specified CBS-related disorder	Criteria Provided Conflicting Classifications	CA320825	rs_192232907	9 SubmittersRCV000196407 RCV001086812 RCV002229442 RCV002277462 RCV002315525 RCV003330559 RCV003907714
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)	SNV Germline	Chr21:43072032	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA321707	rs_199948079	4 SubmittersRCV000409663 RCV002229029 RCV002282028
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	SNV Germline	Chr21:43072048	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA325105	rs_148865119	12 SubmittersRCV000200523 RCV000410155 RCV002229028 RCV002310761
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)	SNV Germline	Chr21:43072061	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA323483	rs_201372812	5 SubmittersRCV000198945 RCV001081627 RCV002381662 RCV002229027
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys)	SNV Germline	Chr1:11794862	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA595462	rs_759031330	2 SubmittersRCV000416797
NM_005957.5(MTHFR):c.604C>A (p.Pro202Thr)	SNV Germline	Chr1:11796382	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA16044132	rs_1057519361	1 SubmittersRCV000416935
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)	SNV Germline	Chr1:11801220	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency not specified Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA16044133	rs_1057519360	5 SubmittersRCV000416816 RCV003235132 RCV003468969 RCV002503824
NM_005957.5(MTHFR):c.236+1G>A	SNV Germline/somatic	Chr1:11802880	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	No Assertion Criteria Provided	CA16044134	rs_1057519359	2 SubmittersRCV000416674 RCV002265687
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)	SNV Germline	ChrX:153952053	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Single Submitter	CA353443	rs_869312686	1 SubmittersRCV000209921
NM_014270.5(SLC7A9):c.88-2A>G	SNV Germline	Chr19:32864778	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA405204748	rs_1085307095	1 SubmittersRCV000490455
NM_000071.3(CBS):c.*540G>A	SNV Germline	Chr21:43053340	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria not specified HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10581423	rs_111386779	5 SubmittersRCV000224812 RCV000226284 RCV000454427 RCV002055001
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)	SNV Germline	ChrX:153959817	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10557513	rs_782010359	4 SubmittersRCV000224972 RCV000493756 RCV002516244
NM_000071.3(CBS):c.894G>A (p.Gln298=)	SNV Germline	Chr21:43063013	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10583888	rs_370514077	6 SubmittersRCV000328152 RCV001552886 RCV002229640 RCV002315676
NM_000071.3(CBS):c.1472G>A (p.Arg491His)	SNV Germline	Chr21:43056883	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10587936	rs_747419767	5 SubmittersRCV000483442 RCV001299974 RCV003153545 RCV004021015
NM_000071.3(CBS):c.1161C>T (p.Ser387=)	SNV Germline	Chr21:43059288	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10587939	rs_149280976	6 SubmittersRCV000540125 RCV001722373 RCV002229818 RCV002310893
NM_000071.3(CBS):c.786G>A (p.Thr262=)	SNV Germline	Chr21:43063942	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10587943	rs_551782391	5 SubmittersRCV000320891 RCV001610766 RCV003153547 RCV002311198
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)	SNV Germline	Chr21:43065678	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10587952	rs_199817801	4 SubmittersRCV000527354 RCV001589301 RCV002310909 RCV002518703
NM_005050.4(ABCD4):c.542+1G>T	SNV Germline	Chr14:74296332	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7267187	rs_769364566	3 SubmittersRCV000030861 RCV000373583
NM_005957.5(MTHFR):c.348C>T (p.Ala116=)	SNV Germline	Chr1:11801288	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA595685	rs_144921426	4 SubmittersRCV000295603 RCV001080742 RCV004021088
NM_000341.4(SLC3A1):c.1500+1G>T	SNV Germline	Chr2:44312754	Pathogenic	Condition: not provided Cystinuria Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10604742	rs_886042834	6 SubmittersRCV000273419 RCV001037564 RCV004021157
NM_005957.5(MTHFR):c.788A>C (p.His263Pro)	SNV Germline	Chr1:11795341	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA595534	rs_142612062	2 SubmittersRCV000320382 RCV001081108
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)	SNV Germline	Chr1:11796278	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA595572	rs_34279942	7 SubmittersRCV000289836 RCV001082332 RCV002365318 RCV003957475
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)	SNV Germline	Chr1:11790890	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA595188	rs_115049252	7 SubmittersRCV000733915 RCV001086227 RCV002411180
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)	SNV Germline	Chr1:11796313	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications		rs_200100285	3 SubmittersRCV001894913 RCV002468946 RCV002506924
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr)	SNV Germline	Chr2:44286054	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640273	rs_139310305	2 SubmittersRCV000277152
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	SNV Germline	Chr2:44286074	Pathogenic	Cystinuria Condition: not provided Autism spectrum disorder	Criteria Provided Multiple Submitters No Conflicts	CA1640281	rs_200483989	9 SubmittersRCV000332132 RCV001723928 RCV003313951
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)	SNV Germline	Chr2:44320435	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA1640778	rs_698761	5 SubmittersRCV000261712 RCV001672579
NM_000341.4(SLC3A1):c.1137-3T>C	SNV Germline	Chr2:44304140	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640460	rs_555017366	2 SubmittersRCV000279645
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=)	SNV Germline	Chr2:44304206	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA10613914	rs_886056069	2 SubmittersRCV000334646
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)	SNV Germline	Chr2:44320298	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640743	rs_148703534	2 SubmittersRCV000314915
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)	SNV Germline	Chr2:44320348	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640755	rs_142141929	2 SubmittersRCV000274787
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=)	SNV Germline	Chr2:44304275	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640504	rs_557669708	2 SubmittersRCV000285583
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)	SNV Germline	Chr2:44275952	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640108	rs_150870922	2 SubmittersRCV000302526
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)	SNV Germline	Chr2:44312607	Pathogenic/Likely pathogenic	Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA1640560	rs_201502095	5 SubmittersRCV000402894
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)	SNV Germline	Chr2:44320554	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA1640806	rs_370262167	4 SubmittersRCV000316994 RCV003314589
NM_014270.5(SLC7A9):c.1338C>T (p.Ser446=)	SNV Germline	Chr19:32833210	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358433	rs_199552160	2 SubmittersRCV000312128 RCV002521201
NM_000071.3(CBS):c.612G>T (p.Val204=)	SNV Germline	Chr21:43065441	Conflicting classifications of pathogenicity	not specified Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10644735	rs_539670390	6 SubmittersRCV000430115 RCV000867368 RCV002230705 RCV003912431 RCV004021848
NM_000071.3(CBS):c.600G>A (p.Pro200=)	SNV Germline	Chr21:43065453	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder	Criteria Provided Conflicting Classifications	CA10644740	rs_181472622	4 SubmittersRCV000648125 RCV002231053 RCV002356473 RCV003910326
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	SNV Germline	Chr21:43066321	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10644742	rs_886057100	7 SubmittersRCV000667483 RCV001175468 RCV002231054 RCV003736733
NM_014270.5(SLC7A9):c.723C>T (p.Ile241=)	SNV Germline	Chr19:32860632	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358699	rs_146682721	2 SubmittersRCV000324815 RCV001441701
NM_000071.3(CBS):c.1146-12C>T	SNV Germline	Chr21:43059315	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10650555	rs_199550738	2 SubmittersRCV000352918 RCV003597973
NM_000071.3(CBS):c.888G>A (p.Thr296=)	SNV Germline	Chr21:43063019	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10650556	rs_769593715	2 SubmittersRCV000269470 RCV002057759
NM_000071.3(CBS):c.-85+10G>C	SNV Germline	Chr21:43075760	Conflicting classifications of pathogenicity	Classic homocystinuria not specified	Criteria Provided Conflicting Classifications	CA10650563	rs_886057102	2 SubmittersRCV000269876 RCV000616419
NM_014270.5(SLC7A9):c.1074+14C>A	SNV Germline	Chr19:32843841	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358513	rs_367844535	2 SubmittersRCV000363384 RCV002521202
NM_014270.5(SLC7A9):c.522C>T (p.Ser174=)	SNV Germline	Chr19:32862543	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358798	rs_142766345	2 SubmittersRCV000404404 RCV002523058
NM_014270.5(SLC7A9):c.1161C>T (p.Gly387=)	SNV Germline	Chr19:32842231	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358482	rs_147267783	2 SubmittersRCV000277108 RCV001520104
NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=)	SNV Germline	Chr19:32843870	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided SLC7A9-related disorder	Criteria Provided Conflicting Classifications	CA9358520	rs_139388814	3 SubmittersRCV000268882 RCV000882336 RCV003940308
NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile)	SNV Germline	Chr19:32862539	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358796	rs_138744722	3 SubmittersRCV000350570 RCV002523057
NM_014270.5(SLC7A9):c.324C>T (p.Pro108=)	SNV Germline	Chr19:32864250	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358871	rs_375773222	2 SubmittersRCV000394263 RCV002057490
NM_014270.5(SLC7A9):c.183T>A (p.Ala61=)	SNV Germline	Chr19:32864681	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided SLC7A9-related disorder	Criteria Provided Conflicting Classifications	CA9358927	rs_142721539	3 SubmittersRCV000267532 RCV001424262 RCV003957685
NM_000071.3(CBS):c.924C>T (p.Tyr308=)	SNV Germline	Chr21:43062983	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder	Criteria Provided Conflicting Classifications	CA10653006	rs_149809170	6 SubmittersRCV000862590 RCV001698128 RCV002231052 RCV002374585 RCV003932361
NM_000071.3(CBS):c.301C>G (p.Leu101Val)	SNV Germline	Chr21:43068524	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10653007	rs_369644531	3 SubmittersRCV000310277 RCV002510881 RCV003495126
NM_000071.3(CBS):c.1468-1G>A	SNV Germline	Chr21:43056888	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16041995	rs_1057516895	3 SubmittersRCV000409904 RCV001861382
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	SNV Unknown	Chr21:43058871	Pathogenic/Likely pathogenic	Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA16041996	rs_1057516645	2 SubmittersRCV000412412
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	SNV Germline	Chr21:43062343	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16041997	rs_760417941	5 SubmittersRCV000409189 RCV001584104 RCV002230729
NM_000071.3(CBS):c.959T>C (p.Val320Ala)	SNV Germline	Chr21:43062391	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria not specified HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16041998	rs_781567152	5 SubmittersRCV000410016 RCV000780081 RCV001000797 RCV001861384
NM_000071.3(CBS):c.954+1G>A	SNV Germline	Chr21:43062952	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16041999	rs_1057517373	5 SubmittersRCV000409556 RCV001251295 RCV001861397
NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)	SNV Unknown	Chr21:43063004	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA16042000	rs_746575551	1 SubmittersRCV000411137
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	SNV Germline	Chr21:43065263	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16042003	rs_763835246	7 SubmittersRCV000412334 RCV001527049 RCV002230214 RCV003168587
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	SNV Germline	Chr21:43066252	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16042005	rs_755952006	7 SubmittersRCV000411624 RCV001193389 RCV002230731 RCV002328897 RCV003314591
NM_000071.3(CBS):c.316+1G>A	SNV Germline	Chr21:43068508	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16042007	rs_1057516256	2 SubmittersRCV000411421 RCV002230213
NM_000071.3(CBS):c.209+1G>C	SNV Germline	Chr21:43071984	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16042008	rs_751464024	3 SubmittersRCV000409345 RCV002230215
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)	SNV Germline	Chr14:74300166	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7267331	rs_147446660	4 SubmittersRCV000414128 RCV001034174 RCV002523924
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)	SNV Germline	ChrX:153953629	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10556985	rs_782407440	3 SubmittersRCV000412955 RCV003522964
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)	SNV Germline	Chr14:74290035	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Conflicting Classifications	CA7266821	rs_45568335	6 SubmittersRCV000443723 RCV000763942
NM_005050.4(ABCD4):c.1753-18G>A	SNV Germline	Chr14:74286547	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Conflicting Classifications	CA7266581	rs_772567988	2 SubmittersRCV000426981 RCV002525362
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)	SNV Germline	Chr14:74293217	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ ABCD4-related disorder	Criteria Provided Conflicting Classifications	CA7267070	rs_141868117	4 SubmittersRCV000423379 RCV001083323 RCV003959901
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)	SNV Germline	ChrX:153952117	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10556872	rs_782467999	2 SubmittersRCV000443814 RCV003522979
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)	SNV Germline	Chr16:67842794	Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblX Disorders of Intracellular Cobalamin Metabolism	Criteria Provided Single Submitter	CA396396088	rs_188675529	2 SubmittersRCV000498990 RCV002522728
NM_014270.5(SLC7A9):c.749+1G>C	SNV Germline	Chr19:32860605	Likely pathogenic	Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA16609556	rs_1060499787	2 SubmittersRCV000454228
NM_000071.3(CBS):c.1425G>A (p.Pro475=)	SNV Germline	Chr21:43058187	Conflicting classifications of pathogenicity	Classic homocystinuria not specified HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA16616532	rs_147885808	4 SubmittersRCV000473993 RCV000615993 RCV002230668 RCV002313194
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)	SNV Germline	Chr21:43068529	Conflicting classifications of pathogenicity	Classic homocystinuria not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA16616548	rs_112029370	5 SubmittersRCV000459701 RCV000497848 RCV001704553 RCV002436393 RCV002525534
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	SNV Germline	Chr14:74288757	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7266765	rs_139901585	7 SubmittersRCV000755203 RCV000820142 RCV002526975
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	SNV Germline	Chr21:43060477	Pathogenic/Likely pathogenic	Condition: not provided Homocystinuria Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621012	rs_757920190	4 SubmittersRCV000482454 RCV003155205 RCV003464007 RCV003495133 RCV004541519
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)	SNV Germline	ChrX:153952837	Conflicting classifications of pathogenicity	not specified Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10556937	rs_781788935	3 SubmittersRCV000482310 RCV000766506 RCV002526976
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)	SNV Germline	ChrX:153954553	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10557126	rs_372301724	2 SubmittersRCV000503750 RCV001399716
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)	SNV Germline	ChrX:153960032	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10557538	rs_782047045	2 SubmittersRCV000499852 RCV003638674
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	SNV Germline	Chr21:43063912	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA321094214	rs_528689432	5 SubmittersRCV000507871 RCV000673238 RCV002231187
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)	SNV Germline	ChrX:153954507	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10557117	rs_781949446	3 SubmittersRCV000522865 RCV001314423 RCV002527603
NM_005957.5(MTHFR):c.1530G>A (p.Lys510=)	SNV Germline	Chr1:11793907	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA595335	rs_765586205	2 SubmittersRCV000546103 RCV003470753
NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter)	SNV Germline	Chr1:11794823	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA595452	rs_377443637	4 SubmittersRCV000538018 RCV004568822
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)	SNV Germline	Chr21:43066264	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Conflicting Classifications	CA321097472	rs_121964966	6 SubmittersRCV000538588 RCV001755867 RCV002330936 RCV002530067 RCV003915591
NM_000071.3(CBS):c.887C>T (p.Thr296Met)	SNV Germline	Chr21:43063020	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321091405	rs_562530775	4 SubmittersRCV000558244 RCV002530068 RCV002377130
NM_000071.3(CBS):c.737-1G>C	SNV Germline	Chr21:43063992	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA321094412	rs_757428597	5 SubmittersRCV000544919 RCV001260387 RCV002232086 RCV003128628
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)	SNV Germline	Chr21:43068541	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA410602047	rs_1347662650	4 SubmittersRCV000557426 RCV002232085
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)	SNV Germline	Chr21:43065653	Pathogenic	Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED See cases Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA410601403	rs_1347651454	5 SubmittersRCV000587735 RCV002232223 RCV002287426 RCV003459454 RCV002315881
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	SNV Germline	Chr21:43063003	Pathogenic/Likely pathogenic	Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA321091356	rs_779270933	4 SubmittersRCV000723460 RCV001805199 RCV002232228 RCV003459461
NM_005957.5(MTHFR):c.1032-6A>G	SNV Germline	Chr1:11794869	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA595464	rs_2066464	3 SubmittersRCV000591861 RCV001079669 RCV003952969
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)	SNV Germline	Chr1:11796319	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA595582	rs_150847674	4 SubmittersRCV000595772 RCV001082026
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)	SNV Germline	Chr1:11803114	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA595764	rs_373076763	3 SubmittersRCV000594799 RCV002265818
NM_005957.5(MTHFR):c.111G>A (p.Leu37=)	SNV Germline	Chr1:11803006	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA416360525	rs_1553188013	2 SubmittersRCV000597835 RCV002531084
NM_005957.5(MTHFR):c.426G>T (p.Leu142=)	SNV Germline	Chr1:11801210	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA416360072	rs_1553187352	2 SubmittersRCV000594264 RCV002062084
NM_005957.5(MTHFR):c.1A>G (p.Met1Val)	SNV Germline	Chr1:11803116	Pathogenic/Likely pathogenic	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA595765	rs_776734688	2 SubmittersRCV000599118 RCV002532693
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser)	SNV Germline	Chr1:11801399	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA338422769	rs_1553187509	1 SubmittersRCV000625779
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter)	SNV Germline	Chr1:11802963	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA17975257	rs_986604359	3 SubmittersRCV000625848 RCV003465361
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)	SNV Germline	Chr2:44275766	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA1640055	rs_146630359	7 SubmittersRCV001000375 RCV001706690
NM_000071.3(CBS):c.1065G>A (p.Ala355=)	SNV Germline	Chr21:43060521	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321689824	rs_748552493	4 SubmittersRCV000648127 RCV001311573 RCV002235258 RCV002406433
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	SNV Germline	Chr21:43063953	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA321094274	rs_143124288	3 SubmittersRCV002235503 RCV003226347 RCV003459543
NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter)	SNV Germline	Chr1:11792372	Likely pathogenic	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1553185069	2 SubmittersRCV000657793 RCV003387441
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His)	SNV Germline	Chr1:11794732	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_769953411	2 SubmittersRCV000661921 RCV002263926
NM_000071.3(CBS):c.1358+2T>C	SNV Unknown	Chr21:43058832	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_866630296	1 SubmittersRCV000665384
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	SNV Germline	Chr21:43062368	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Conflicting Classifications		rs_758447354	7 SubmittersRCV000665455 RCV000755891 RCV002233097 RCV003117465
NM_000071.3(CBS):c.1553-2A>C	SNV Germline	Chr21:43053985	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_760609383	2 SubmittersRCV000671969 RCV002233102
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	SNV Germline	Chr21:43063045	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts		rs_141502207	5 SubmittersRCV000671575 RCV002282314 RCV004026125
NM_000071.3(CBS):c.829-1G>C	SNV Unknown	Chr21:43063079	Likely pathogenic	Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1555874263	2 SubmittersRCV000673689
NM_000071.3(CBS):c.829-11G>T	SNV Germline	Chr21:43063089	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Conflicting Classifications		rs_371619788	4 SubmittersRCV000666454 RCV001566836 RCV002060815 RCV003965426
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)	SNV Germline	Chr21:43053960	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1555869958	2 SubmittersRCV000672976 RCV003495172
NM_000071.3(CBS):c.1553-1G>C	SNV Germline	Chr21:43053984	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1555869979	2 SubmittersRCV000669704 RCV002232803
NM_000071.3(CBS):c.1552+1G>A	SNV Unknown	Chr21:43056802	Likely pathogenic	Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1434118781	2 SubmittersRCV000670219
NM_000071.3(CBS):c.954+2T>G	SNV Germline	Chr21:43062951	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1555874121	2 SubmittersRCV000672813 RCV002233103
NM_000071.3(CBS):c.828+1G>A	SNV Germline	Chr21:43063899	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_763290176	9 SubmittersRCV000673023 RCV002060827 RCV002232806 RCV003226363
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	SNV Germline	Chr21:43063976	Conflicting classifications of pathogenicity	Classic homocystinuria CBS-related disorder HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications		rs_1176770868	6 SubmittersRCV000671309 RCV003392512 RCV003495170
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	SNV Germline	Chr21:43065256	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1555874803	4 SubmittersRCV000669206 RCV002232634 RCV003330883
NM_000071.3(CBS):c.451+1G>T	SNV Germline	Chr21:43066242	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1555875292	2 SubmittersRCV000668133 RCV001861765
NM_000071.3(CBS):c.1359-1G>C	SNV Germline	Chr21:43058254	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_865990681	2 SubmittersRCV000670285 RCV002232804
NM_000071.3(CBS):c.209+2T>C	SNV Unknown	Chr21:43071983	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_1555876755	1 SubmittersRCV000670125
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln)	SNV Germline	Chr2:44301085	Pathogenic	Condition: not provided Cystinuria	Criteria Provided Single Submitter		rs_567478582	2 SubmittersRCV000681750 RCV001067849
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)	SNV Germline	Chr19:32833195	Pathogenic	Condition: not provided Cystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1007096305	3 SubmittersRCV000681936 RCV002499211
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)	SNV Germline	Chr1:11802962	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_754980119	6 SubmittersRCV000690846 RCV002245591 RCV002477553 RCV003459684
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)	SNV Germline	Chr1:11794442	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_200688214	3 SubmittersRCV000702419 RCV003313135
NM_000341.4(SLC3A1):c.430+2T>G	SNV Germline	Chr2:44275967	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_1558450604	1 SubmittersRCV000688389
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)	SNV Germline	Chr14:74287858	Pathogenic/Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ Cobalamin C disease	Criteria Provided Multiple Submitters No Conflicts		rs_767795583	3 SubmittersRCV000707417 RCV002265867
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)	SNV Germline	ChrX:153954246	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_781783048	2 SubmittersRCV000706024
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)	SNV Germline	Chr21:43065654	Pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter		rs_1234354755	2 SubmittersRCV000704014 RCV002233403
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)	SNV Germline	Chr1:11792285	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder	Criteria Provided Conflicting Classifications		rs_145641996	5 SubmittersRCV000731422 RCV001401394 RCV003980376
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)	SNV Germline	Chr19:32862151	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_140873167	5 SubmittersRCV000778542 RCV002536733
NM_000071.3(CBS):c.526G>A (p.Glu176Lys)	SNV Germline	Chr21:43065621	Pathogenic	Homocystinuria Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_762065361	3 SubmittersRCV000781199 RCV001220158 RCV002234174
NM_000071.3(CBS):c.209+1G>A	SNV Germline	Chr21:43071984	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_751464024	8 SubmittersRCV001389140 RCV001558321 RCV000780080 RCV002234171 RCV003424337
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)	SNV Germline	Chr1:11791260	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_140277700	7 SubmittersRCV000817838 RCV001543555 RCV003461249
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter)	SNV Germline	Chr1:11794029	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_139645527	5 SubmittersRCV000791536 RCV003461066
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=)	SNV Germline	Chr1:11794385	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_367585605	3 SubmittersRCV000809330 RCV002381796
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)	SNV Germline	Chr1:11794765	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_750323424	3 SubmittersRCV000810485 RCV003461196
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)	SNV Germline	Chr1:11795116	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_368321176	3 SubmittersRCV000813708 RCV003461217
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)	SNV Germline	Chr2:44320325	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_776729515	1 SubmittersRCV000798029
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)	SNV Germline	Chr21:43060460	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1170128038	4 SubmittersRCV002234919 RCV003886440 RCV002510583
NM_000071.3(CBS):c.68C>T (p.Ser23Leu)	SNV Germline	Chr21:43072126	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_775785018	4 SubmittersRCV000798452 RCV001538815 RCV002234321 RCV003166168
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)	SNV Germline	ChrX:153954836	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782473277	2 SubmittersRCV000821405 RCV002537503
NM_000071.3(CBS):c.1223+1G>T	SNV Germline	Chr21:43059225	Pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1601339216	2 SubmittersRCV002235005 RCV003485647
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)	SNV Germline	Chr2:44275601	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications		rs_149507807	2 SubmittersRCV000968928
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)	SNV Germline	Chr2:44286063	Conflicting classifications of pathogenicity	Cystinuria SLC3A1-related disorder	Criteria Provided Conflicting Classifications		rs_141587158	3 SubmittersRCV000963261 RCV003916118
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)	SNV Germline	Chr2:44301117	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_143068960	3 SubmittersRCV000967785 RCV001354160
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=)	SNV Germline	Chr2:44312651	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_140821819	5 SubmittersRCV000967670 RCV001729765 RCV001729766
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=)	SNV Germline	Chr2:44275835	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided SLC3A1-related disorder	Criteria Provided Conflicting Classifications		rs_115030299	4 SubmittersRCV000884172 RCV001571645 RCV003920605
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)	SNV Germline	Chr2:44280851	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_140317484	4 SubmittersRCV000880749 RCV001357966
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)	SNV Germline	Chr2:44301116	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications		rs_760943092	2 SubmittersRCV001140891
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)	SNV Germline	Chr2:44312726	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_144065614	3 SubmittersRCV000899454 RCV001171945
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)	SNV Germline	Chr2:44320470	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications		rs_150557210	2 SubmittersRCV001140994
NM_014270.5(SLC7A9):c.829G>A (p.Val277Met)	SNV Germline	Chr19:32859885	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications		rs_147344717	2 SubmittersRCV000904705 RCV001128455
NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=)	SNV Germline	Chr2:44320222	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications		rs_371537299	2 SubmittersRCV000923700 RCV001138419
NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=)	SNV Germline	Chr2:44320462	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications		rs_763292534	2 SubmittersRCV000922544 RCV001140993
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)	SNV Germline	Chr1:11796306	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications		rs_748571395	5 SubmittersRCV000985005 RCV003461295
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)	SNV Germline	Chr1:11802884	Pathogenic/Likely pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_776969786	4 SubmittersRCV000986238 RCV001236475
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)	SNV Germline	Chr2:44301075	Conflicting classifications of pathogenicity	Cystine urolithiasis Cystinuria SLC3A1-related disorder	Criteria Provided Conflicting Classifications		rs_375399468	4 SubmittersRCV000991104 RCV001140890 RCV003918618
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)	SNV Germline	Chr2:44320221	Conflicting classifications of pathogenicity	Cystine urolithiasis Cystinuria	Criteria Provided Conflicting Classifications		rs_368796166	3 SubmittersRCV000991124 RCV001313669
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter)	SNV Germline	Chr2:44320592	Pathogenic	Cystine urolithiasis Cystinuria	Criteria Provided Single Submitter		rs_1361526419	2 SubmittersRCV000991105 RCV001238859
NM_000341.4(SLC3A1):c.1332+2T>A	SNV Germline	Chr2:44304340	Pathogenic	Cystine urolithiasis Cystinuria	Criteria Provided Single Submitter		rs_758627758	2 SubmittersRCV000991122 RCV003141911
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)	SNV Germline	Chr21:43059297	Pathogenic	Classic homocystinuria Condition: not provided Homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1304669003	3 SubmittersRCV001004615 RCV001540545 RCV003994188
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)	SNV Germline	Chr21:43058245	Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_1981524462	2 SubmittersRCV002240613 RCV004570272
NM_000071.3(CBS):c.954G>A (p.Thr318=)	SNV Germline	Chr21:43062953	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications		rs_776122644	3 SubmittersRCV001046424 RCV003311934 RCV002552594
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)	SNV Germline	Chr21:43066243	Pathogenic	Homocystinuria Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_373782713	7 SubmittersRCV001264436 RCV001070719 RCV001585975 RCV002240636 RCV002339345 RCV003918663
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)	SNV Germline	ChrX:153954904	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	Criteria Provided Conflicting Classifications		rs_373327413	3 SubmittersRCV001043826 RCV003438654
NM_005957.5(MTHFR):c.237-2A>C	SNV Germline	Chr1:11801401	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1644381879	1 SubmittersRCV001065420
NM_005050.4(ABCD4):c.426-4C>G	SNV Germline	Chr14:74296453	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Conflicting Classifications		rs_765378243	2 SubmittersRCV001092315 RCV003769024
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)	SNV Germline	ChrX:153954803	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_1273500868	2 SubmittersRCV001093007 RCV002557966
NM_014270.5(SLC7A9):c.*8C>T	SNV Germline	Chr19:32830612	Conflicting classifications of pathogenicity	Cystinuria SLC7A9-related disorder	Criteria Provided Conflicting Classifications		rs_145079057	2 SubmittersRCV001123743 RCV003938474
NM_014270.5(SLC7A9):c.1446G>A (p.Pro482=)	SNV Germline	Chr19:32830638	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_144616352	2 SubmittersRCV001123744 RCV003688908
NM_014270.5(SLC7A9):c.1404G>A (p.Pro468=)	SNV Germline	Chr19:32830680	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_141142633	2 SubmittersRCV001123745 RCV001485629
NM_014270.5(SLC7A9):c.972G>A (p.Ala324=)	SNV Germline	Chr19:32858445	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_61730903	3 SubmittersRCV001128454 RCV001513236
NM_014270.5(SLC7A9):c.419T>C (p.Phe140Ser)	SNV Germline	Chr19:32864155	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_752881588	2 SubmittersRCV001123845 RCV001222095
NM_014270.5(SLC7A9):c.177G>A (p.Thr59=)	SNV Germline	Chr19:32864687	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_771205937	3 SubmittersRCV001126491 RCV002556754 RCV004032269
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)	SNV Germline	Chr2:44320407	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications		rs_200592320	3 SubmittersRCV001140991
NM_000071.3(CBS):c.1017C>T (p.Ile339=)	SNV Germline	Chr21:43062333	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Conflicting Classifications		rs_773933333	3 SubmittersRCV001140938 RCV002240655 RCV003898137
NM_000071.3(CBS):c.1146-6C>T	SNV Germline	Chr21:43059309	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications		rs_1981696579	3 SubmittersRCV001140179 RCV002240908
NM_000071.3(CBS):c.684C>A (p.Asn228Lys)	SNV Germline	Chr21:43065255	Pathogenic	Homocystinuria Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_1464223176	4 SubmittersRCV001175076 RCV001833732 RCV003495233
NM_000071.3(CBS):c.684C>G (p.Asn228Lys)	SNV Germline	Chr21:43065255	Pathogenic	Homocystinuria	Criteria Provided Single Submitter		rs_1464223176	1 SubmittersRCV001193391
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)	SNV Germline	Chr14:74290302	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200761248	4 SubmittersRCV001200594 RCV002561077 RCV003363148
NM_000071.3(CBS):c.429C>G (p.Ile143Met)	SNV Germline	Chr21:43066265	Pathogenic/Likely pathogenic	Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_370167302	3 SubmittersRCV001732080 RCV002241315 RCV003117854
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)	SNV Germline	Chr2:44281423	Pathogenic/Likely pathogenic	Cystinuria Condition: not provided SLC3A1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_369641941	5 SubmittersRCV001213233 RCV002508795 RCV003963130
NM_014270.5(SLC7A9):c.604+2T>C	SNV Germline	Chr19:32862459	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications		rs_763110287	3 SubmittersRCV001208000 RCV001262259
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)	SNV Germline	ChrX:153952723	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1252960661	2 SubmittersRCV001231378 RCV003246783
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)	SNV Germline	ChrX:153951444	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	Criteria Provided Conflicting Classifications		rs_1342469676	2 SubmittersRCV001248497 RCV001814290
NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter)	SNV Germline	Chr19:32833151	Pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_1967855547	1 SubmittersRCV001281279
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)	SNV Germline	Chr1:11790681	Conflicting classifications of pathogenicity	Intellectual disability Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications		rs_749490263	4 SubmittersRCV001252321 RCV002570507 RCV003462833
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)	SNV Germline	Chr1:11795156	Conflicting classifications of pathogenicity	Intellectual disability Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications		rs_371085894	4 SubmittersRCV001252318 RCV001786456 RCV003469485
NM_005957.5(MTHFR):c.475+1G>T	SNV Germline	Chr1:11801160	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_748397580	3 SubmittersRCV001253140 RCV003462834
NM_005050.4(ABCD4):c.719+2T>G	SNV Germline	Chr14:74295146	Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter		rs_2082518811	1 SubmittersRCV001254054
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)	SNV Germline	Chr14:74295966	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Conflicting Classifications		rs_1410990711	2 SubmittersRCV001254055
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)	SNV Germline	Chr1:11791248	Pathogenic/Likely pathogenic	Rare genetic intellectual disability Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV001257010 RCV003462838 RCV003770337
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys)	SNV Germline	Chr2:44304236	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_1672093819	1 SubmittersRCV001257094
NM_000071.3(CBS):c.941T>C (p.Val314Ala)	SNV Unknown	Chr21:43062966	Pathogenic	Classic homocystinuria	No Assertion Criteria Provided		rs_1438933819	1 SubmittersRCV001257457
NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly)	SNV Germline	Chr1:11800322	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1644355976	1 SubmittersRCV001260224
NM_000071.3(CBS):c.1210G>T (p.Glu404Ter)	SNV Unknown	Chr21:43059239	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_1981682654	1 SubmittersRCV001264020
NM_000071.3(CBS):c.715G>T (p.Glu239Ter)	SNV Unknown	Chr21:43065224	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_1982493665	1 SubmittersRCV001264021
NM_000071.3(CBS):c.637G>T (p.Glu213Ter)	SNV Unknown	Chr21:43065416	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_758703098	1 SubmittersRCV001264022
NM_000071.3(CBS):c.529A>T (p.Lys177Ter)	SNV Unknown	Chr21:43065618	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_1982601982	1 SubmittersRCV001264023
NM_000071.3(CBS):c.430G>T (p.Glu144Ter)	SNV Unknown	Chr21:43066264	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter		rs_121964966	1 SubmittersRCV001264024
NM_005334.3(HCFC1):c.748G>A (p.Val250Met)	SNV Germline	ChrX:153962271	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_782385961	2 SubmittersRCV001266994 RCV002537694
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)	SNV Germline	ChrX:153962297	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	Criteria Provided Conflicting Classifications		rs_782354655	3 SubmittersRCV001265667 RCV001880094 RCV002261329
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)	SNV Germline	Chr1:11794825	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_977038830	4 SubmittersRCV001377364 RCV003469502
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	SNV Germline	Chr1:11801177	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_767890671	6 SubmittersRCV001290317 RCV002499515 RCV003462851
NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter)	SNV Germline	Chr1:11791211	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1314085200	1 SubmittersRCV001386292
NM_005957.5(MTHFR):c.1166+5G>C	SNV Germline	Chr1:11794724	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_1483632178	3 SubmittersRCV001300805 RCV003462865
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)	SNV Germline	ChrX:153952890	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_371874117	2 SubmittersRCV001334385
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)	SNV Germline	Chr21:43066335	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter		rs_1982750491	2 SubmittersRCV001344817 RCV003154004
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val)	SNV Germline	Chr1:11800214	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_760161369	3 SubmittersRCV001353257 RCV004570861
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)	SNV Germline	Chr21:43062343	Likely pathogenic	Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_760417941	3 SubmittersRCV001361230 RCV002420789 RCV003154014
NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter)	SNV Germline	Chr2:44299995	Pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_768222969	1 SubmittersRCV001374419
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)	SNV Germline	Chr1:11791209	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_1644092513	4 SubmittersRCV001377363 RCV003462949
NM_005957.5(MTHFR):c.474A>T (p.Gly158=)	SNV Germline	Chr1:11801162	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_199476142	3 SubmittersRCV001377365 RCV003462950
NM_000071.3(CBS):c.869C>T (p.Pro290Leu)	SNV Germline	Chr21:43063038	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_760912339	3 SubmittersRCV002242773 RCV003883622 RCV004570927
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter)	SNV Germline	Chr1:11802915	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_763539350	3 SubmittersRCV001380126 RCV002305606 RCV003462963
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)	SNV Germline	Chr2:44301084	Pathogenic/Likely pathogenic	Cystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_765828196	3 SubmittersRCV001390784
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)	SNV Germline	Chr21:43058215	Pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts		rs_121964971	3 SubmittersRCV001386107 RCV002242843
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)	SNV Germline	Chr21:43068563	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_2146413970	2 SubmittersRCV002242808 RCV003462980
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)	SNV Germline	Chr1:11794389	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_545086633	4 SubmittersRCV001420163 RCV003463041
NM_000071.3(CBS):c.753G>T (p.Leu251=)	SNV Germline	Chr21:43063975	Conflicting classifications of pathogenicity	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Conflicting Classifications		rs_2146375662	2 SubmittersRCV002240270 RCV001455036
NM_014270.5(SLC7A9):c.978-17G>A	SNV Germline	Chr19:32843968	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria SLC7A9-related disorder	Criteria Provided Conflicting Classifications		rs_45628833	4 SubmittersRCV001513121 RCV002488321 RCV003948508
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)	SNV Unknown	Chr19:32864639	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_753121162	1 SubmittersRCV001536102
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val)	SNV Germline	Chr19:32864655	Likely pathogenic	Cystinuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_769448665	2 SubmittersRCV001535874 RCV001873796
NM_000071.3(CBS):c.862G>C (p.Ala288Pro)	SNV Germline	Chr21:43063045	Likely pathogenic	Homocystinuria	Criteria Provided Single Submitter		rs_141502207	1 SubmittersRCV001553570
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)	SNV Germline	Chr19:32864744	Pathogenic/Likely pathogenic	Condition: not provided Cystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_140179068	4 SubmittersRCV001730281 RCV002272488
NM_000341.4(SLC3A1):c.766-2A>C	SNV Germline	Chr2:44286030	Pathogenic/Likely pathogenic	Cystinuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_201376169	2 SubmittersRCV001761809 RCV003237461
NM_014270.5(SLC7A9):c.1400-2A>G	SNV Unknown	Chr19:32830686	Pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_2145788754	1 SubmittersRCV001784990
NM_005957.5(MTHFR):c.1270G>T (p.Glu424Ter)	SNV Germline	Chr1:11794435	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_1476689323	1 SubmittersRCV001782466
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=)	SNV Germline	Chr2:44300090	Pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_772810111	1 SubmittersRCV003506537
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter)	SNV Germline	Chr19:32833242	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_988712826	1 SubmittersRCV001783776
NM_000071.3(CBS):c.667-1G>C	SNV Germline	Chr21:43065273	Pathogenic	Classic homocystinuria	No Assertion Criteria Provided		rs_1982513394	1 SubmittersRCV001787317
NM_005957.5(MTHFR):c.1793T>G (p.Leu598Arg)	SNV Germline	Chr1:11790858	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_786204034	1 SubmittersRCV001808247
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)	SNV Germline	Chr1:11801290	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications		rs_1056919085	4 SubmittersRCV001808302 RCV003464148
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)	SNV Germline	ChrX:153950358	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_2065298662	2 SubmittersRCV001817492 RCV002077287
NM_000071.3(CBS):c.1039+1G>T	SNV Germline	Chr21:43062310	Pathogenic	Homocystinuria	Criteria Provided Single Submitter		rs_2146362992	1 SubmittersRCV001825051
NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser)	SNV Germline	Chr1:11801299	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_147257424	1 SubmittersRCV001838859
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)	SNV Germline	ChrX:153954347	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_111385795	2 SubmittersRCV001844619 RCV003638823
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)	SNV Germline	Chr2:44320380	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_141944551	3 SubmittersRCV001849666 RCV004571122
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)	SNV Germline	ChrX:153954795	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_1439756712	3 SubmittersRCV002004490 RCV003170133 RCV003438907
NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys)	SNV Germline	Chr1:11794826	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_779993607	2 SubmittersRCV001999864 RCV004571709
NM_000341.4(SLC3A1):c.891+2T>C	SNV Germline	Chr2:44286159	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_2104342335	1 SubmittersRCV001999110
NM_000341.4(SLC3A1):c.1366C>A (p.Arg456Ser)	SNV Germline	Chr2:44312619	Pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_139251285	1 SubmittersRCV001961514
NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter)	SNV Germline	Chr1:11794443	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_200137991	1 SubmittersRCV001953816
NM_005957.5(MTHFR):c.475+1G>A	SNV Germline	Chr1:11801160	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_748397580	1 SubmittersRCV001995318
NM_000071.3(CBS):c.210-1G>C	SNV Germline	Chr21:43068616	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_2146414477	2 SubmittersRCV002017343 RCV003464378
NM_000341.4(SLC3A1):c.1011+3A>G	SNV Germline	Chr2:44300093	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_1206425661	1 SubmittersRCV001977751
NM_005957.5(MTHFR):c.177G>A (p.Trp59Ter)	SNV Germline	Chr1:11802940	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_767789270	1 SubmittersRCV001939988
NM_000341.4(SLC3A1):c.638C>G (p.Pro213Arg)	SNV Germline	Chr2:44281414	Pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_369603431	1 SubmittersRCV002013904
NM_005957.5(MTHFR):c.495G>A (p.Trp165Ter)	SNV Germline	Chr1:11800303	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_774118546	1 SubmittersRCV001941557
NM_005957.5(MTHFR):c.451A>T (p.Lys151Ter)	SNV Germline	Chr1:11801185	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_2100566841	1 SubmittersRCV001963017
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu)	SNV Germline	Chr2:44301085	Pathogenic/Likely pathogenic	Cystinuria	Criteria Provided Multiple Submitters No Conflicts		rs_567478582	3 SubmittersRCV001956176
NM_000341.4(SLC3A1):c.1592C>G (p.Ser531Ter)	SNV Germline	Chr2:44313926	Pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_2104385536	1 SubmittersRCV001972524
NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter)	SNV Germline	Chr2:44281446	Pathogenic	Cystinuria	Criteria Provided Single Submitter		rs_542026439	1 SubmittersRCV001947095
NM_005957.5(MTHFR):c.476-1G>A	SNV Germline	Chr1:11800323	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_2100562061	1 SubmittersRCV002035641
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr)	SNV Germline	Chr1:11800275	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_1182635980	2 SubmittersRCV001985134 RCV003471099
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)	SNV Germline	Chr21:43060505	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Homocystinuria Classic homocystinuria	Criteria Provided Conflicting Classifications		rs_745764562	4 SubmittersRCV002244591 RCV002427733 RCV003226536 RCV003464409
NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter)	SNV Germline	Chr1:11791302	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_2100499494	1 SubmittersRCV002247150
NM_000071.3(CBS):c.667-14C>G	SNV Germline	Chr21:43065286	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications		rs_1388184910	2 SubmittersRCV002272703 RCV003096132
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)	SNV Germline	Chr21:43063944	Likely pathogenic	Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002293059 RCV003101691 RCV004572125
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)	SNV Unknown	Chr21:43060511	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV002309720
NM_005957.5(MTHFR):c.2T>A (p.Met1Lys)	SNV Germline	Chr1:11803115	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003093571
NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln)	SNV Germline	Chr1:11794371	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003078768 RCV003250754
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)	SNV Germline	Chr21:43062958	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003075119 RCV003234597
NM_005957.5(MTHFR):c.781-1G>A	SNV Germline	Chr1:11795349	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002588344 RCV003459753
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)	SNV Germline	Chr2:44275801	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV002612511
NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu)	SNV Germline	Chr1:11791244	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002630048
NM_005334.3(HCFC1):c.193+16G>T	SNV Germline	ChrX:153970632	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV002510306 RCV003775561
NM_005957.5(MTHFR):c.1348-1G>C	SNV Germline	Chr1:11794090	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002510619 RCV003465778
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)	SNV Germline	Chr21:43068563	Conflicting classifications of pathogenicity	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Conflicting Classifications			2 SubmittersRCV002601595 RCV003340518
NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter)	SNV Germline	Chr1:11795166	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002627735
NM_005957.5(MTHFR):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:11803115	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002720888
NM_000341.4(SLC3A1):c.1136+1G>T	SNV Germline	Chr2:44301128	Pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV002755885
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)	SNV Germline	ChrX:153955427	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV002922791
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)	SNV Germline	Chr1:11795126	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002933069 RCV003465867
NM_000341.4(SLC3A1):c.1136+2T>C	SNV Germline	Chr2:44301129	Pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV002923352
NM_005957.5(MTHFR):c.780+3G>A	SNV Germline	Chr1:11796203	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002962665 RCV003963516
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)	SNV Germline	ChrX:153950521	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003002280 RCV003002279
NM_005957.5(MTHFR):c.1530+1G>T	SNV Germline	Chr1:11793906	Likely pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003465902 RCV003026952
NM_005957.5(MTHFR):c.1682G>A (p.Trp561Ter)	SNV Germline	Chr1:11791277	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003048912
NM_014270.5(SLC7A9):c.206G>A (p.Trp69Ter)	SNV Germline	Chr19:32864658	Pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003140582
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)	SNV Germline	Chr1:11792306	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications			2 SubmittersRCV003132696 RCV003459784
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)	SNV Germline	ChrX:153955139	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003131101
NM_000341.4(SLC3A1):c.891+4A>G	SNV Germline	Chr2:44286161	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003134071
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)	SNV Germline	Chr19:32842182	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003131530
NM_000071.3(CBS):c.955-2A>G	SNV Germline	Chr21:43062397	Likely pathogenic	Homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003155600
NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)	SNV Germline	Chr2:44280721	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003156163
NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)	SNV Germline	Chr2:44304326	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003156164
NM_000071.3(CBS):c.767G>T (p.Gly256Val)	SNV Germline	Chr21:43063961	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003234731
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)	SNV Germline	ChrX:153954554	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003317878 RCV003638937
NM_000341.4(SLC3A1):c.242G>T (p.Arg81Leu)	SNV Germline	Chr2:44275777	Pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003332928
NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)	SNV Unknown	Chr2:44304194	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003333288
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)	SNV Germline	ChrX:153954641	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003349152 RCV003523162
NM_005957.5(MTHFR):c.781-6G>A	SNV Germline	Chr1:11795354	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003389932
NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)	SNV Germline	Chr21:43058886	Likely pathogenic	CBS-related disorder Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003404293 RCV004572969
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)	SNV Germline	ChrX:153951988	Conflicting classifications of pathogenicity	HCFC1-related disorder Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003419150 RCV003638953
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)	SNV Germline	ChrX:153954910	Conflicting classifications of pathogenicity	HCFC1-related disorder Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003418775 RCV003638951
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)	SNV Germline	ChrX:153952817	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003432646 RCV003638959
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)	SNV Germline	ChrX:153954423	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003440015 RCV003778462
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)	SNV Germline	Chr1:11792307	Likely pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003461960 RCV003523191
NM_005957.5(MTHFR):c.1347+1G>A	SNV Germline	Chr1:11794357	Pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003461967 RCV003523192
NM_005957.5(MTHFR):c.237-2A>G	SNV Germline	Chr1:11801401	Pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003470266 RCV003523193
NM_000071.3(CBS):c.689T>A (p.Leu230Gln)	SNV Unknown	Chr21:43065250	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460335
NM_000071.3(CBS):c.1358+2T>A	SNV Unknown	Chr21:43058832	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460336
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)	SNV Germline	Chr21:43065212	Pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003460337 RCV003495344
NM_000071.3(CBS):c.913G>A (p.Gly305Arg)	SNV Unknown	Chr21:43062994	Pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460338
NM_000071.3(CBS):c.1039+2T>C	SNV Unknown	Chr21:43062309	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460339
NM_000071.3(CBS):c.407T>C (p.Leu136Pro)	SNV Unknown	Chr21:43066287	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460340
NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)	SNV Unknown	Chr21:43058156	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460342
NM_000071.3(CBS):c.209+1G>T	SNV Unknown	Chr21:43071984	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460343
NM_000071.3(CBS):c.1359-2A>T	SNV Unknown	Chr21:43058255	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460344
NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)	SNV Unknown	Chr21:43058933	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460345
NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)	SNV Unknown	Chr21:43058874	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460350
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)	SNV Germline	Chr21:43063018	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003460351 RCV003779148
NM_000071.3(CBS):c.694C>G (p.His232Asp)	SNV Unknown	Chr21:43065245	Pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460352
NM_000071.3(CBS):c.1145+1G>A	SNV Germline	Chr21:43060440	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003460353 RCV003598178
NM_000071.3(CBS):c.1040-2A>G	SNV Unknown	Chr21:43060548	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460355
NM_000071.3(CBS):c.796A>G (p.Arg266Gly)	SNV Unknown	Chr21:43063932	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003460356
NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)	SNV Germline	Chr21:43062314	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003448861
NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)	SNV Unknown	Chr19:32862577	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003455848
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)	SNV Germline	ChrX:153960380	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003486110
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)	SNV Germline	Chr14:74287840	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter			1 SubmittersRCV003531448
NM_005050.4(ABCD4):c.1457-1G>C	SNV Germline	Chr14:74288766	Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter			1 SubmittersRCV003534209
NM_005957.5(MTHFR):c.780+1G>A	SNV Germline	Chr1:11796205	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003525253
NM_005957.5(MTHFR):c.237-1G>T	SNV Germline	Chr1:11801400	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003525254
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)	SNV Germline	Chr2:44280737	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003506534
NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)	SNV Germline	Chr2:44281541	Pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003506536
NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)	SNV Germline	Chr2:44320221	Pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003506538
NM_000341.4(SLC3A1):c.1975C>T (p.Gln659Ter)	SNV Germline	Chr2:44320556	Pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003506543
NM_005957.5(MTHFR):c.1032-1G>C	SNV Germline	Chr1:11794864	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003523641
NM_005957.5(MTHFR):c.1531-1G>C	SNV Germline	Chr1:11792380	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003523665
NM_005957.5(MTHFR):c.835G>T (p.Glu279Ter)	SNV Germline	Chr1:11795294	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003524706
NM_005957.5(MTHFR):c.1142G>A (p.Trp381Ter)	SNV Germline	Chr1:11794753	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003636097 RCV004574156
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)	SNV Germline	Chr14:74289501	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter			1 SubmittersRCV003648439
NM_005957.5(MTHFR):c.1530+1G>A	SNV Germline	Chr1:11793906	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003637937 RCV004573161
NM_005957.5(MTHFR):c.1297G>T (p.Glu433Ter)	SNV Germline	Chr1:11794408	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003638062
NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)	SNV Germline	Chr2:44281396	Pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003616826
NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter)	SNV Germline	Chr1:11794848	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003635548
NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)	SNV Germline	Chr1:11796208	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003636670
NM_005957.5(MTHFR):c.1167G>A (p.Trp389Ter)	SNV Germline	Chr1:11794538	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003636755
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)	SNV Germline	ChrX:153958616	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003639256 RCV004374311
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)	SNV Germline	Chr14:74296421	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter			1 SubmittersRCV003873123
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)	SNV Germline	ChrX:153950542	Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblX	No Assertion Criteria Provided			1 SubmittersRCV003985697
NM_005957.5(MTHFR):c.1596C>G (p.Tyr532Ter)	SNV Germline	Chr1:11792314	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004515786
NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)	SNV Germline	Chr21:43058835	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV003989272
NM_000071.3(CBS):c.210-2A>C	SNV Germline	Chr21:43068617	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018179
NM_000071.3(CBS):c.452-2A>C	SNV Germline	Chr21:43065697	Pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018180
NM_000071.3(CBS):c.833T>G (p.Ile278Ser)	SNV Germline	Chr21:43063074	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018181
NM_000071.3(CBS):c.955-2A>T	SNV Germline	Chr21:43062397	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018182
NM_000071.3(CBS):c.1039+2T>G	SNV Germline	Chr21:43062309	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018213
NM_000071.3(CBS):c.955-2A>C	SNV Germline	Chr21:43062397	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004018214
NM_000341.4(SLC3A1):c.503C>A (p.Ser168Ter)	SNV Unknown	Chr2:44280788	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004557283
NM_000071.3(CBS):c.829-1G>T	SNV Unknown	Chr21:43063079	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004575494
NM_000071.3(CBS):c.883C>T (p.Gln295Ter)	SNV Unknown	Chr21:43063024	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004575495
NM_000071.3(CBS):c.1229G>A (p.Trp410Ter)	SNV Unknown	Chr21:43058963	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004575496
NM_000071.3(CBS):c.1039+1G>A	SNV Unknown	Chr21:43062310	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter			1 SubmittersRCV004575497

SNV
Germline

Chr21:43062988

Pathogenic

Homocystinuria, pyridoxine-nonresponsive
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided
Classic homocystinuria
Homocystinuria
CBS-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113874

rs_121964962

17 SubmittersRCV000000137 RCV000000138 RCV000078112 RCV000173641 RCV000366433 RCV003914786 RCV002313701

NM_000071.3(CBS):c.434C>T (p.Pro145Leu)

SNV
Germline

Chr21:43066260

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA113876

rs_121964963

6 SubmittersRCV000000139 RCV000625555 RCV001250193 RCV002227955

NM_000071.3(CBS):c.341C>T (p.Ala114Val)

SNV
Germline

Chr21:43066353

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-responsive
Condition: not provided
Homocystinuria
Classic homocystinuria
CBS-related disorder
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113878

rs_121964964

18 SubmittersRCV000000140 RCV000200823 RCV000590659 RCV000490533 RCV003952330 RCV002227956 RCV002453244

NM_000071.3(CBS):c.833T>C (p.Ile278Thr)

SNV
Germline

Chr21:43063074

Pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria, pyridoxine-responsive
Condition: not provided
Classic homocystinuria
Homocystinuria
Intellectual disability
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder
Thoracic aortic aneurysm or dissection
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA113880

rs_5742905

35 SubmittersRCV000000142 RCV000000141 RCV000078111 RCV000173640 RCV000781197 RCV001252178 RCV002310621 RCV002276525 RCV004584135 RCV003128384

NM_000071.3(CBS):c.415G>A (p.Gly139Arg)

SNV
Germline

Chr21:43066279

Conflicting classifications of pathogenicity

Homocystinuria, pyridoxine-responsive
not specified
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA113883

rs_121964965

3 SubmittersRCV000000143 RCV002468954 RCV003764500

NM_000071.3(CBS):c.430G>A (p.Glu144Lys)

SNV
Germline

Chr21:43066264

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA113885

rs_121964966

12 SubmittersRCV000000144 RCV000169074 RCV000723427 RCV001251284 RCV002227957 RCV003415595

NM_000071.3(CBS):c.1150A>G (p.Lys384Glu)

SNV
Germline

Chr21:43059299

Likely pathogenic

Homocystinuria, pyridoxine-responsive
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

CA113887

rs_121964967

2 SubmittersRCV000000145 RCV003495103

NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)

SNV
Germline

Chr21:43053920

Conflicting classifications of pathogenicity

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA113889

rs_121964968

4 SubmittersRCV000000146 RCV000675072 RCV002468955 RCV003597960

NM_000071.3(CBS):c.797G>A (p.Arg266Lys)

SNV
Germline

Chr21:43063931

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113891

rs_121964969

7 SubmittersRCV000000147 RCV000469164 RCV001192721 RCV002227958 RCV001546787 RCV002313702

NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)

SNV
Germline

Chr21:43058862

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria, pyridoxine-responsive
Condition: not provided
Classic homocystinuria
Homocystinuria
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113893

rs_28934891

12 SubmittersRCV000000149 RCV000000148 RCV000078108 RCV000174656 RCV000781196 RCV002381232

NM_000071.3(CBS):c.502G>A (p.Val168Met)

SNV
Germline

Chr21:43065645

Conflicting classifications of pathogenicity

Homocystinuria, pyridoxine-responsive
Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
Homocystinuria
Familial hypercholesterolemia

Criteria Provided
Conflicting Classifications

CA113895

rs_121964970

10 SubmittersRCV000000150 RCV000179250 RCV000458159 RCV002227959 RCV002310622 RCV002265542 RCV004540986

NM_000071.3(CBS):c.1224-2A>C

SNV
Germline

Chr21:43058970

Pathogenic

Homocystinuria, pyridoxine-responsive
Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113897

rs_375846341

17 SubmittersRCV000000151 RCV000174658 RCV000198380 RCV000590542 RCV002227960 RCV003944786 RCV002354142

NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)

SNV
Germline

Chr21:43058215

Conflicting classifications of pathogenicity

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA113900

rs_121964971

7 SubmittersRCV000000153 RCV000675119 RCV002390082 RCV003226154

NM_000071.3(CBS):c.1058C>T (p.Thr353Met)

SNV
Germline

Chr21:43060528

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-nonresponsive
Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA113902

rs_121964972

11 SubmittersRCV000000154 RCV000078106 RCV000169466 RCV002227961 RCV004018522 RCV002271361

NM_000071.3(CBS):c.572C>T (p.Thr191Met)

SNV
Germline

Chr21:43065481

Pathogenic/Likely pathogenic

Homocystinuria, pyridoxine-nonresponsive
Condition: not provided
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113904

rs_121964973

13 SubmittersRCV000000155 RCV000195441 RCV000576767 RCV000589097 RCV002227962 RCV003914787 RCV004018523

NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter)

SNV
Germline

Chr1:11800251

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Abnormality of metabolism/homeostasis

Criteria Provided
Multiple Submitters
No Conflicts

CA278050

rs_121434294

5 SubmittersRCV001209716 RCV001813944

NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)

SNV
Germline

Chr1:11801166

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect
Schizophrenia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA278053

rs_121434295

5 SubmittersRCV001382824 RCV002476918 RCV003460410

NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser)

SNV
Germline

Chr1:11795158

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA278055

rs_267606887

2 SubmittersRCV002225067

NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly)

SNV
Germline

Chr1:11795114

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA278057

rs_267606886

2 SubmittersRCV001851626

NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)

SNV
Germline

Chr1:11794766

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

CA278059

rs_121434296

6 SubmittersRCV000642247 RCV000756357 RCV003460411

NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)

SNV
Germline

Chr1:11795161

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA278061

rs_121434297

3 SubmittersRCV002512718 RCV003466798

NM_014270.5(SLC7A9):c.508G>A (p.Val170Met)

SNV
Germline

Chr19:32862557

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA117721

rs_121908479

2 SubmittersRCV000006136

NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)

SNV
Germline

Chr19:32864261

Pathogenic/Likely pathogenic

Cystinuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117723

rs_121908480

12 SubmittersRCV000006137 RCV000523825

NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)

SNV
Germline

Chr19:32862521

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA211245

rs_79389353

15 SubmittersRCV000006138 RCV000480556 RCV004018572

NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)

SNV
Germline

Chr19:32862482

Pathogenic

Cystinuria

No Assertion Criteria Provided

CA117725

rs_121908482

1 SubmittersRCV000006139

NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg)

SNV
Germline

Chr19:32859939

Likely pathogenic

Cystinuria
Condition: not provided

Criteria Provided
Single Submitter

CA117727

rs_121908483

2 SubmittersRCV000006140 RCV000793254

NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)

SNV
Germline

Chr19:32843932

Pathogenic/Likely pathogenic

Cystinuria
Condition: not provided
SLC7A9-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117729

rs_121908484

7 SubmittersRCV000006143 RCV000801232 RCV003398451

NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr)

SNV
Germline

Chr19:32864733

Pathogenic

Cystinuria

No Assertion Criteria Provided

CA117731

rs_121908485

1 SubmittersRCV000006144

NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)

SNV
Germline

Chr19:32864206

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA117737

rs_79987078

10 SubmittersRCV000006149 RCV001390782

NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)

SNV
Germline

Chr2:44312653

Pathogenic/Likely pathogenic

Cystinuria
Condition: not provided
Inborn genetic diseases
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA127830

rs_121912691

24 SubmittersRCV000019743 RCV000413736 RCV004018645 RCV002251914

NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)

SNV
Germline

Chr2:44312653

Conflicting classifications of pathogenicity

Cystinuria
SLC3A1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA127831

rs_121912691

8 SubmittersRCV000019744 RCV003415724 RCV001580112

NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro)

SNV
Germline

Chr2:44320614

Pathogenic

Cystinuria

No Assertion Criteria Provided

CA127832

rs_121912693

1 SubmittersRCV000019745

NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln)

SNV
Germline

Chr2:44280827

Pathogenic

Cystinuria

No Assertion Criteria Provided

CA127833

rs_121912694

1 SubmittersRCV000019746

NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg)

SNV
Germline

Chr2:44320536

Pathogenic

Cystinuria

No Assertion Criteria Provided

CA127834

rs_121912695

1 SubmittersRCV000019747

NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn)

SNV
Germline

Chr2:44313931

Pathogenic

Cystinuria

No Assertion Criteria Provided

CA130075

rs_387907276

1 SubmittersRCV000030727

NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)

SNV
Germline

Chr14:74292623

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblJ
Condition: not provided
Cobalamin C disease

Criteria Provided
Conflicting Classifications

CA130166

rs_201777056

4 SubmittersRCV000030859 RCV000059785 RCV002265570

NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys)

SNV
Germline

Chr14:74289483

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

No Assertion Criteria Provided

rs_2080853826

1 SubmittersRCV000030862

NM_005334.3(HCFC1):c.-970T>C

SNV
Germline

ChrX:153971810

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX

No Assertion Criteria Provided

CA130459

rs_398122908

1 SubmittersRCV000032896

NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)

SNV
Germline

ChrX:153963263

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided

No Assertion Criteria Provided

CA130460

rs_318240758

2 SubmittersRCV000032897 RCV000059786

NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)

SNV
Germline

ChrX:153964283

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX
Disorders of Intracellular Cobalamin Metabolism

Criteria Provided
Multiple Submitters
No Conflicts

CA144900

rs_397515485

5 SubmittersRCV000057506 RCV002513743

NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)

SNV
Germline

ChrX:153964702

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Intellectual disability
Condition: not provided
Disorders of Intracellular Cobalamin Metabolism
Cobalamin C disease

Criteria Provided
Conflicting Classifications

CA144902

rs_397515486

6 SubmittersRCV000057507 RCV000224133 RCV000224484 RCV002513744 RCV001199845

NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)

SNV
Germline

ChrX:153964703

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX
Disorders of Intracellular Cobalamin Metabolism

No Assertion Criteria Provided

CA144904

rs_397515487

2 SubmittersRCV000057508 RCV002513745

NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)

SNV
Germline

Chr21:43062344

Pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274154

rs_398123151

14 SubmittersRCV000078105 RCV000169310 RCV002228199 RCV001280568 RCV003905038

NM_000071.3(CBS):c.435G>A (p.Pro145=)

SNV
Germline

Chr21:43066259

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA220355

rs_148782895

4 SubmittersRCV000078109 RCV001088690 RCV002228201 RCV003343633

NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)

SNV
Germline

ChrX:153960046

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA222863

rs_398124206

2 SubmittersRCV000081289 RCV003638617

NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)

SNV
Germline

ChrX:153955109

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Methylmalonic acidemia with homocystinuria, type cblX
HCFC1-related disorder

Criteria Provided
Conflicting Classifications

CA231158

rs_201404751

8 SubmittersRCV000117215 RCV000599889 RCV001520721 RCV003952568

NM_000071.3(CBS):c.829-13G>A

SNV
Germline

Chr21:43063091

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA289976

rs_201106576

6 SubmittersRCV000124151 RCV000287047 RCV002227066 RCV002228268 RCV003915241

NM_000071.3(CBS):c.954+8G>A

SNV
Germline

Chr21:43062945

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA302711

rs_76292057

7 SubmittersRCV000173642 RCV000536701 RCV002228270

NM_000071.3(CBS):c.*18G>A

SNV
Germline

Chr21:43053862

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289979

rs_200259659

5 SubmittersRCV000124158 RCV001142671 RCV001698966

NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)

SNV
Germline

ChrX:153949579

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA234106

rs_199953428

2 SubmittersRCV000153346 RCV002056033

NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg)

SNV
Germline

Chr1:11790682

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Single Submitter

CA198664

rs_768434408

2 SubmittersRCV000167626 RCV004567355

NM_005957.5(MTHFR):c.1883T>C (p.Leu628Pro)

SNV
Germline

Chr1:11790768

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198661

rs_786204037

1 SubmittersRCV000167625

NM_005957.5(MTHFR):c.1808C>G (p.Ser603Cys)

SNV
Germline

Chr1:11790843

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198658

rs_758206023

1 SubmittersRCV000167624

NM_005957.5(MTHFR):c.1753-18G>A

SNV
Germline

Chr1:11790916

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198651

rs_777661576

3 SubmittersRCV000167621 RCV003462251

NM_005957.5(MTHFR):c.1752+1G>T

SNV
Germline

Chr1:11791206

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198650

rs_747846362

3 SubmittersRCV000167620 RCV003468817

NM_005957.5(MTHFR):c.1724T>G (p.Val575Gly)

SNV
Germline

Chr1:11791235

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198647

rs_786204031

1 SubmittersRCV000167619

NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter)

SNV
Germline

Chr1:11791276

Pathogenic; risk factor

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198644

rs_786204030

3 SubmittersRCV000167618 RCV000709684 RCV003468816

NM_005957.5(MTHFR):c.1632+2T>G

SNV
Germline

Chr1:11792276

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA198643

rs_749765738

6 SubmittersRCV000167617 RCV002492678 RCV003468815 RCV001753577

NM_005957.5(MTHFR):c.1530+2T>C

SNV
Germline

Chr1:11793905

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198639

rs_786204027

1 SubmittersRCV000167615

NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp)

SNV
Germline

Chr1:11793921

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA198636

rs_786204026

2 SubmittersRCV000167614

NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)

SNV
Germline

Chr1:11794385

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect
Schizophrenia
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198633

rs_367585605

4 SubmittersRCV000167613 RCV002498831 RCV003462250

NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)

SNV
Germline

Chr1:11794443

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198630

rs_200137991

5 SubmittersRCV000167612 RCV001268212 RCV003462249

NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu)

SNV
Germline

Chr1:11794781

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198626

rs_786204024

1 SubmittersRCV000167610

NM_005957.5(MTHFR):c.1042C>T (p.Pro348Ser)

SNV
Germline

Chr1:11794853

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198617

rs_786204021

1 SubmittersRCV000167607

NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)

SNV
Germline

Chr1:11795125

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
not specified

Criteria Provided
Conflicting Classifications

CA198614

rs_543016186

5 SubmittersRCV000167606 RCV003468814 RCV004526623

NM_005957.5(MTHFR):c.780+1G>T

SNV
Germline

Chr1:11796205

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198613

rs_786204020

1 SubmittersRCV000167605

NM_005957.5(MTHFR):c.769T>G (p.Phe257Val)

SNV
Germline

Chr1:11796217

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198610

rs_786204019

1 SubmittersRCV000167604

NM_005957.5(MTHFR):c.764G>T (p.Gly255Val)

SNV
Germline

Chr1:11796222

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198604

rs_786204018

1 SubmittersRCV000167602

NM_005957.5(MTHFR):c.673A>C (p.Ile225Leu)

SNV
Germline

Chr1:11796313

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198595

rs_200100285

1 SubmittersRCV000167599

NM_005957.5(MTHFR):c.587G>A (p.Gly196Asp)

SNV
Germline

Chr1:11796399

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198589

rs_786204014

1 SubmittersRCV000167597

NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)

SNV
Germline

Chr1:11800250

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198586

rs_574132670

7 SubmittersRCV000167596 RCV000993916 RCV003468813

NM_005957.5(MTHFR):c.440A>C (p.Gln147Pro)

SNV
Germline

Chr1:11801196

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Single Submitter

CA198583

rs_786204013

2 SubmittersRCV000167595 RCV004567354

NM_005957.5(MTHFR):c.388T>C (p.Cys130Arg)

SNV
Germline

Chr1:11801248

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198580

rs_786204012

1 SubmittersRCV000167594

NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)

SNV
Germline

Chr1:11801257

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA198577

rs_769381688

3 SubmittersRCV000167593 RCV003323422

NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr)

SNV
Germline

Chr1:11801299

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198574

rs_147257424

3 SubmittersRCV000167592 RCV003462247

NM_005957.5(MTHFR):c.244C>T (p.Arg82Trp)

SNV
Germline

Chr1:11801392

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198568

rs_786204009

1 SubmittersRCV000167590

NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)

SNV
Germline

Chr1:11802915

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198565

rs_763539350

6 SubmittersRCV000167589 RCV003462246

NM_005957.5(MTHFR):c.176G>C (p.Trp59Ser)

SNV
Germline

Chr1:11802941

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA198562

rs_786204007

1 SubmittersRCV000167588

NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)

SNV
Germline

Chr1:11802980

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198559

rs_776483190

4 SubmittersRCV000167587 RCV003468812

NM_000071.3(CBS):c.1358+1G>A

SNV
Germline

Chr21:43058833

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA274355

rs_786204679

3 SubmittersRCV000169487 RCV002228614

NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)

SNV
Germline

Chr21:43058876

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA274364

rs_756467921

8 SubmittersRCV000169494 RCV000587586 RCV003153461 RCV003155100 RCV003298197

NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)

SNV
Germline

Chr21:43060450

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA274005

rs_763036586

4 SubmittersRCV000169171 RCV000480748 RCV002517626

NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)

SNV
Germline

Chr21:43062311

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA273978

rs_771298943

11 SubmittersRCV000169132 RCV000197584 RCV000780082 RCV002228607 RCV002390401

NM_000071.3(CBS):c.770C>T (p.Thr257Met)

SNV
Germline

Chr21:43063958

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
Hyperhomocysteinemia
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA274140

rs_758236584

9 SubmittersRCV000169294 RCV000197988 RCV000790997 RCV000780084 RCV002228778 RCV003128393

NM_000071.3(CBS):c.362G>A (p.Arg121His)

SNV
Germline

Chr21:43066332

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA274172

rs_770095972

6 SubmittersRCV000169322 RCV002228611 RCV001192720 RCV002453568

NM_000071.3(CBS):c.346G>A (p.Gly116Arg)

SNV
Germline

Chr21:43066348

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA273957

rs_760214620

5 SubmittersRCV000169116 RCV002228606 RCV001844063

NM_000071.3(CBS):c.306G>C (p.Lys102Asn)

SNV
Germline

Chr21:43068519

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA274220

rs_786204609

4 SubmittersRCV000169368 RCV003226233 RCV002444680 RCV002515197

NM_000071.3(CBS):c.302T>C (p.Leu101Pro)

SNV
Germline

Chr21:43068523

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA274473

rs_786204757

4 SubmittersRCV000169617 RCV001251397 RCV002228615

NM_000071.3(CBS):c.233C>G (p.Pro78Arg)

SNV
Germline

Chr21:43068592

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA274218

rs_786204608

4 SubmittersRCV000169367 RCV003226232 RCV002444679 RCV002515196

NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)

SNV
Germline

Chr1:11792354

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Schizophrenia
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA239275

rs_45449298

7 SubmittersRCV000173820 RCV000763727 RCV001081882 RCV003947466

NM_000071.3(CBS):c.992C>T (p.Ala331Val)

SNV
Germline

Chr21:43062358

Likely pathogenic

Condition: not provided
Intellectual disability
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA239449

rs_777919630

4 SubmittersRCV000173977 RCV001252181 RCV002516607 RCV003462276

NM_000071.3(CBS):c.1072G>A (p.Val358Met)

SNV
Germline

Chr21:43060514

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA239721

rs_148589243

8 SubmittersRCV000474043 RCV000420634 RCV002415740 RCV002517673

NM_000071.3(CBS):c.374G>A (p.Arg125Gln)

SNV
Germline

Chr21:43066320

Pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA275291

rs_781444670

10 SubmittersRCV000178709 RCV000723426 RCV001804908 RCV002228790

NM_000071.3(CBS):c.785C>T (p.Thr262Met)

SNV
Germline

Chr21:43063943

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA275440

rs_149119723

9 SubmittersRCV000180461 RCV000200469 RCV001251422 RCV002228800

NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)

SNV
Germline

Chr1:11794045

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA248138

rs_79157191

3 SubmittersRCV000180626 RCV001079521 RCV003967447

NM_005957.5(MTHFR):c.1515C>T (p.Gly505=)

SNV
Germline

Chr1:11793922

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA248141

rs_376927238

2 SubmittersRCV000180627 RCV001493852

NM_000071.3(CBS):c.362G>T (p.Arg121Leu)

SNV
Germline

Chr21:43066332

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA275933

rs_770095972

3 SubmittersRCV000190373 RCV001857669

NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)

SNV
Germline

ChrX:153955043

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX
not specified

Criteria Provided
Conflicting Classifications

CA204892

rs_782727601

4 SubmittersRCV000190805 RCV001814098 RCV001818463

NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)

SNV
Germline

ChrX:153954709

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA206502

rs_782484757

2 SubmittersRCV000193189 RCV002054266

NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)

SNV
Germline

ChrX:153954907

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided
HCFC1-related disorder

Criteria Provided
Conflicting Classifications

CA209474

rs_376049260

7 SubmittersRCV000194960 RCV000638561 RCV001726038 RCV003947606

NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)

SNV
Germline

ChrX:153955273

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA208007

rs_782501125

2 SubmittersRCV000194081 RCV003522945

NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)

SNV
Germline

ChrX:153956356

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA209573

rs_374223163

2 SubmittersRCV000195023 RCV001400453

NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)

SNV
Germline

ChrX:153956951

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA207556

rs_371411952

2 SubmittersRCV000193817 RCV003522944

NM_005334.3(HCFC1):c.1084+8C>T

SNV
Germline

ChrX:153960227

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA209242

rs_367698803

2 SubmittersRCV000194817 RCV003638641

NM_005334.3(HCFC1):c.984C>T (p.Val328=)

SNV
Germline

ChrX:153960335

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA206536

rs_782409511

2 SubmittersRCV000193208 RCV003638642

NM_000071.3(CBS):c.1479G>A (p.Thr493=)

SNV
Germline

Chr21:43056876

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320891

rs_143225442

8 SubmittersRCV000196475 RCV000471233 RCV001726039 RCV002229438 RCV002310757

NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)

SNV
Germline

Chr21:43058912

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA321746

rs_863223434

5 SubmittersRCV000197292 RCV000584030 RCV003462306 RCV002517170

NM_000071.3(CBS):c.1273G>A (p.Val425Met)

SNV
Germline

Chr21:43058919

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA325175

rs_138211175

5 SubmittersRCV000592999 RCV000554628 RCV002315524 RCV002517169

NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)

SNV
Germline

Chr21:43059226

Likely pathogenic

Condition: not provided
Classic homocystinuria

Criteria Provided
Single Submitter

CA320559

rs_863223433

2 SubmittersRCV000196138 RCV001275690

NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)

SNV
Germline

Chr21:43060451

Pathogenic/Likely pathogenic

Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA320740

rs_769080151

7 SubmittersRCV000196320 RCV001853130 RCV000763061 RCV003987440

NM_000071.3(CBS):c.1111G>A (p.Val371Met)

SNV
Germline

Chr21:43060475

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
Homocystinuria
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA320805

rs_372010465

9 SubmittersRCV000196393 RCV000410135 RCV002229026 RCV002433873 RCV003401061 RCV003895256

NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)

SNV
Germline

Chr21:43060481

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
not specified
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA324371

rs_117687681

19 SubmittersRCV000231839 RCV000514877 RCV001526851 RCV002277461 RCV002310759 RCV003401060 RCV002517167

NM_000071.3(CBS):c.1059G>A (p.Thr353=)

SNV
Germline

Chr21:43060527

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
Condition: not provided
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA322372

rs_61735859

8 SubmittersRCV000197907 RCV000230184 RCV001812186 RCV002277458 RCV002310756 RCV002517160

NM_000071.3(CBS):c.992C>A (p.Ala331Glu)

SNV
Germline

Chr21:43062358

Pathogenic/Likely pathogenic

Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA323703

rs_777919630

4 SubmittersRCV000199169 RCV001778782 RCV002228833 RCV003462305

NM_000071.3(CBS):c.969G>A (p.Trp323Ter)

SNV
Germline

Chr21:43062381

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA321445

rs_863223432

9 SubmittersRCV000197013 RCV000363392 RCV003495115

NM_000071.3(CBS):c.700G>A (p.Asp234Asn)

SNV
Germline

Chr21:43065239

Pathogenic

Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA324489

rs_773734233

4 SubmittersRCV000199941 RCV000586183 RCV002228832 RCV003462304

NM_000071.3(CBS):c.457G>A (p.Gly153Arg)

SNV
Germline

Chr21:43065690

Conflicting classifications of pathogenicity

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_745704046

7 SubmittersRCV000689266 RCV000781198 RCV002228831 RCV003221852

NM_000071.3(CBS):c.394C>T (p.Arg132Cys)

SNV
Germline

Chr21:43066300

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
Intellectual disability
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
not specified

Criteria Provided
Conflicting Classifications

CA320193

rs_140002610

14 SubmittersRCV000460928 RCV000726351 RCV001252179 RCV002315523 RCV002517995 RCV003993881

NM_000071.3(CBS):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr21:43066333

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA321269

rs_775992753

5 SubmittersRCV000196859 RCV000475484 RCV001192722 RCV002229025

NM_000071.3(CBS):c.325T>C (p.Cys109Arg)

SNV
Germline

Chr21:43066369

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA324303

rs_778220779

9 SubmittersRCV000199752 RCV000248928 RCV000535881 RCV000588375 RCV002229441

NM_000071.3(CBS):c.253G>A (p.Gly85Arg)

SNV
Germline

Chr21:43068572

Pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA319849

rs_863223435

6 SubmittersRCV000195506 RCV001063052 RCV002228834

NM_000071.3(CBS):c.215A>T (p.Lys72Ile)

SNV
Germline

Chr21:43068610

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
not specified
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA320825

rs_192232907

9 SubmittersRCV000196407 RCV001086812 RCV002229442 RCV002277462 RCV002315525 RCV003330559 RCV003907714

NM_000071.3(CBS):c.162G>A (p.Trp54Ter)

SNV
Germline

Chr21:43072032

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA321707

rs_199948079

4 SubmittersRCV000409663 RCV002229029 RCV002282028

NM_000071.3(CBS):c.146C>T (p.Pro49Leu)

SNV
Germline

Chr21:43072048

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA325105

rs_148865119

12 SubmittersRCV000200523 RCV000410155 RCV002229028 RCV002310761

NM_000071.3(CBS):c.133C>T (p.Arg45Trp)

SNV
Germline

Chr21:43072061

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA323483

rs_201372812

5 SubmittersRCV000198945 RCV001081627 RCV002381662 RCV002229027

NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys)

SNV
Germline

Chr1:11794862

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA595462

rs_759031330

2 SubmittersRCV000416797

NM_005957.5(MTHFR):c.604C>A (p.Pro202Thr)

SNV
Germline

Chr1:11796382

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA16044132

rs_1057519361

1 SubmittersRCV000416935

NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)

SNV
Germline

Chr1:11801220

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
not specified
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive
Schizophrenia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA16044133

rs_1057519360

5 SubmittersRCV000416816 RCV003235132 RCV003468969 RCV002503824

NM_005957.5(MTHFR):c.236+1G>A

SNV
Germline/somatic

Chr1:11802880

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

No Assertion Criteria Provided

CA16044134

rs_1057519359

2 SubmittersRCV000416674 RCV002265687

NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)

SNV
Germline

ChrX:153952053

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Single Submitter

CA353443

rs_869312686

1 SubmittersRCV000209921

NM_014270.5(SLC7A9):c.88-2A>G

SNV
Germline

Chr19:32864778

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA405204748

rs_1085307095

1 SubmittersRCV000490455

NM_000071.3(CBS):c.*540G>A

SNV
Germline

Chr21:43053340

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
not specified
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10581423

rs_111386779

5 SubmittersRCV000224812 RCV000226284 RCV000454427 RCV002055001

NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)

SNV
Germline

ChrX:153959817

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10557513

rs_782010359

4 SubmittersRCV000224972 RCV000493756 RCV002516244

NM_000071.3(CBS):c.894G>A (p.Gln298=)

SNV
Germline

Chr21:43063013

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10583888

rs_370514077

6 SubmittersRCV000328152 RCV001552886 RCV002229640 RCV002315676

NM_000071.3(CBS):c.1472G>A (p.Arg491His)

SNV
Germline

Chr21:43056883

Conflicting classifications of pathogenicity

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10587936

rs_747419767

5 SubmittersRCV000483442 RCV001299974 RCV003153545 RCV004021015

NM_000071.3(CBS):c.1161C>T (p.Ser387=)

SNV
Germline

Chr21:43059288

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10587939

rs_149280976

6 SubmittersRCV000540125 RCV001722373 RCV002229818 RCV002310893

NM_000071.3(CBS):c.786G>A (p.Thr262=)

SNV
Germline

Chr21:43063942

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10587943

rs_551782391

5 SubmittersRCV000320891 RCV001610766 RCV003153547 RCV002311198

NM_000071.3(CBS):c.469G>A (p.Ala157Thr)

SNV
Germline

Chr21:43065678

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10587952

rs_199817801

4 SubmittersRCV000527354 RCV001589301 RCV002310909 RCV002518703

NM_005050.4(ABCD4):c.542+1G>T

SNV
Germline

Chr14:74296332

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7267187

rs_769364566

3 SubmittersRCV000030861 RCV000373583

NM_005957.5(MTHFR):c.348C>T (p.Ala116=)

SNV
Germline

Chr1:11801288

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA595685

rs_144921426

4 SubmittersRCV000295603 RCV001080742 RCV004021088

NM_000341.4(SLC3A1):c.1500+1G>T

SNV
Germline

Chr2:44312754

Pathogenic

Condition: not provided
Cystinuria
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10604742

rs_886042834

6 SubmittersRCV000273419 RCV001037564 RCV004021157

NM_005957.5(MTHFR):c.788A>C (p.His263Pro)

SNV
Germline

Chr1:11795341

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA595534

rs_142612062

2 SubmittersRCV000320382 RCV001081108

NM_005957.5(MTHFR):c.708C>T (p.Phe236=)

SNV
Germline

Chr1:11796278

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA595572

rs_34279942

7 SubmittersRCV000289836 RCV001082332 RCV002365318 RCV003957475

NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)

SNV
Germline

Chr1:11790890

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA595188

rs_115049252

7 SubmittersRCV000733915 RCV001086227 RCV002411180

NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)

SNV
Germline

Chr1:11796313

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Schizophrenia
Schizophrenia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

rs_200100285

3 SubmittersRCV001894913 RCV002468946 RCV002506924

NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr)

SNV
Germline

Chr2:44286054

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640273

rs_139310305

2 SubmittersRCV000277152

NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)

SNV
Germline

Chr2:44286074

Pathogenic

Cystinuria
Condition: not provided
Autism spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1640281

rs_200483989

9 SubmittersRCV000332132 RCV001723928 RCV003313951

NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)

SNV
Germline

Chr2:44320435

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1640778

rs_698761

5 SubmittersRCV000261712 RCV001672579

NM_000341.4(SLC3A1):c.1137-3T>C

SNV
Germline

Chr2:44304140

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640460

rs_555017366

2 SubmittersRCV000279645

NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=)

SNV
Germline

Chr2:44304206

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA10613914

rs_886056069

2 SubmittersRCV000334646

NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)

SNV
Germline

Chr2:44320298

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640743

rs_148703534

2 SubmittersRCV000314915

NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)

SNV
Germline

Chr2:44320348

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640755

rs_142141929

2 SubmittersRCV000274787

NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=)

SNV
Germline

Chr2:44304275

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640504

rs_557669708

2 SubmittersRCV000285583

NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)

SNV
Germline

Chr2:44275952

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640108

rs_150870922

2 SubmittersRCV000302526

NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)

SNV
Germline

Chr2:44312607

Pathogenic/Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA1640560

rs_201502095

5 SubmittersRCV000402894

NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)

SNV
Germline

Chr2:44320554

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1640806

rs_370262167

4 SubmittersRCV000316994 RCV003314589

NM_014270.5(SLC7A9):c.1338C>T (p.Ser446=)

SNV
Germline

Chr19:32833210

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358433

rs_199552160

2 SubmittersRCV000312128 RCV002521201

NM_000071.3(CBS):c.612G>T (p.Val204=)

SNV
Germline

Chr21:43065441

Conflicting classifications of pathogenicity

not specified
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10644735

rs_539670390

6 SubmittersRCV000430115 RCV000867368 RCV002230705 RCV003912431 RCV004021848

NM_000071.3(CBS):c.600G>A (p.Pro200=)

SNV
Germline

Chr21:43065453

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA10644740

rs_181472622

4 SubmittersRCV000648125 RCV002231053 RCV002356473 RCV003910326

NM_000071.3(CBS):c.373C>T (p.Arg125Trp)

SNV
Germline

Chr21:43066321

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10644742

rs_886057100

7 SubmittersRCV000667483 RCV001175468 RCV002231054 RCV003736733

NM_014270.5(SLC7A9):c.723C>T (p.Ile241=)

SNV
Germline

Chr19:32860632

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358699

rs_146682721

2 SubmittersRCV000324815 RCV001441701

NM_000071.3(CBS):c.1146-12C>T

SNV
Germline

Chr21:43059315

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10650555

rs_199550738

2 SubmittersRCV000352918 RCV003597973

NM_000071.3(CBS):c.888G>A (p.Thr296=)

SNV
Germline

Chr21:43063019

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10650556

rs_769593715

2 SubmittersRCV000269470 RCV002057759

NM_000071.3(CBS):c.-85+10G>C

SNV
Germline

Chr21:43075760

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified

Criteria Provided
Conflicting Classifications

CA10650563

rs_886057102

2 SubmittersRCV000269876 RCV000616419

NM_014270.5(SLC7A9):c.1074+14C>A

SNV
Germline

Chr19:32843841

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358513

rs_367844535

2 SubmittersRCV000363384 RCV002521202

NM_014270.5(SLC7A9):c.522C>T (p.Ser174=)

SNV
Germline

Chr19:32862543

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358798

rs_142766345

2 SubmittersRCV000404404 RCV002523058

NM_014270.5(SLC7A9):c.1161C>T (p.Gly387=)

SNV
Germline

Chr19:32842231

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358482

rs_147267783

2 SubmittersRCV000277108 RCV001520104

NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=)

SNV
Germline

Chr19:32843870

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided
SLC7A9-related disorder

Criteria Provided
Conflicting Classifications

CA9358520

rs_139388814

3 SubmittersRCV000268882 RCV000882336 RCV003940308

NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile)

SNV
Germline

Chr19:32862539

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358796

rs_138744722

3 SubmittersRCV000350570 RCV002523057

NM_014270.5(SLC7A9):c.324C>T (p.Pro108=)

SNV
Germline

Chr19:32864250

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358871

rs_375773222

2 SubmittersRCV000394263 RCV002057490

NM_014270.5(SLC7A9):c.183T>A (p.Ala61=)

SNV
Germline

Chr19:32864681

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided
SLC7A9-related disorder

Criteria Provided
Conflicting Classifications

CA9358927

rs_142721539

3 SubmittersRCV000267532 RCV001424262 RCV003957685

NM_000071.3(CBS):c.924C>T (p.Tyr308=)

SNV
Germline

Chr21:43062983

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA10653006

rs_149809170

6 SubmittersRCV000862590 RCV001698128 RCV002231052 RCV002374585 RCV003932361

NM_000071.3(CBS):c.301C>G (p.Leu101Val)

SNV
Germline

Chr21:43068524

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA10653007

rs_369644531

3 SubmittersRCV000310277 RCV002510881 RCV003495126

NM_000071.3(CBS):c.1468-1G>A

SNV
Germline

Chr21:43056888

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16041995

rs_1057516895

3 SubmittersRCV000409904 RCV001861382

NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)

SNV
Unknown

Chr21:43058871

Pathogenic/Likely pathogenic

Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16041996

rs_1057516645

2 SubmittersRCV000412412

NM_000071.3(CBS):c.1007G>A (p.Arg336His)

SNV
Germline

Chr21:43062343

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16041997

rs_760417941

5 SubmittersRCV000409189 RCV001584104 RCV002230729

NM_000071.3(CBS):c.959T>C (p.Val320Ala)

SNV
Germline

Chr21:43062391

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
not specified
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16041998

rs_781567152

5 SubmittersRCV000410016 RCV000780081 RCV001000797 RCV001861384

NM_000071.3(CBS):c.954+1G>A

SNV
Germline

Chr21:43062952

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16041999

rs_1057517373

5 SubmittersRCV000409556 RCV001251295 RCV001861397

NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)

SNV
Unknown

Chr21:43063004

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA16042000

rs_746575551

1 SubmittersRCV000411137

NM_000071.3(CBS):c.676G>A (p.Ala226Thr)

SNV
Germline

Chr21:43065263

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16042003

rs_763835246

7 SubmittersRCV000412334 RCV001527049 RCV002230214 RCV003168587

NM_000071.3(CBS):c.442G>A (p.Gly148Arg)

SNV
Germline

Chr21:43066252

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16042005

rs_755952006

7 SubmittersRCV000411624 RCV001193389 RCV002230731 RCV002328897 RCV003314591

NM_000071.3(CBS):c.316+1G>A

SNV
Germline

Chr21:43068508

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16042007

rs_1057516256

2 SubmittersRCV000411421 RCV002230213

NM_000071.3(CBS):c.209+1G>C

SNV
Germline

Chr21:43071984

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16042008

rs_751464024

3 SubmittersRCV000409345 RCV002230215

NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)

SNV
Germline

Chr14:74300166

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblJ
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7267331

rs_147446660

4 SubmittersRCV000414128 RCV001034174 RCV002523924

NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)

SNV
Germline

ChrX:153953629

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10556985

rs_782407440

3 SubmittersRCV000412955 RCV003522964

NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)

SNV
Germline

Chr14:74290035

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Conflicting Classifications

CA7266821

rs_45568335

6 SubmittersRCV000443723 RCV000763942

NM_005050.4(ABCD4):c.1753-18G>A

SNV
Germline

Chr14:74286547

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Conflicting Classifications

CA7266581

rs_772567988

2 SubmittersRCV000426981 RCV002525362

NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)

SNV
Germline

Chr14:74293217

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ
ABCD4-related disorder

Criteria Provided
Conflicting Classifications

CA7267070

rs_141868117

4 SubmittersRCV000423379 RCV001083323 RCV003959901

NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)

SNV
Germline

ChrX:153952117

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10556872

rs_782467999

2 SubmittersRCV000443814 RCV003522979

NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)

SNV
Germline

Chr16:67842794

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblX
Disorders of Intracellular Cobalamin Metabolism

Criteria Provided
Single Submitter

CA396396088

rs_188675529

2 SubmittersRCV000498990 RCV002522728

NM_014270.5(SLC7A9):c.749+1G>C

SNV
Germline

Chr19:32860605

Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16609556

rs_1060499787

2 SubmittersRCV000454228

NM_000071.3(CBS):c.1425G>A (p.Pro475=)

SNV
Germline

Chr21:43058187

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16616532

rs_147885808

4 SubmittersRCV000473993 RCV000615993 RCV002230668 RCV002313194

NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)

SNV
Germline

Chr21:43068529

Conflicting classifications of pathogenicity

Classic homocystinuria
not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA16616548

rs_112029370

5 SubmittersRCV000459701 RCV000497848 RCV001704553 RCV002436393 RCV002525534

NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)

SNV
Germline

Chr14:74288757

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7266765

rs_139901585

7 SubmittersRCV000755203 RCV000820142 RCV002526975

NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)

SNV
Germline

Chr21:43060477

Pathogenic/Likely pathogenic

Condition: not provided
Homocystinuria
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16621012

rs_757920190

4 SubmittersRCV000482454 RCV003155205 RCV003464007 RCV003495133 RCV004541519

NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)

SNV
Germline

ChrX:153952837

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10556937

rs_781788935

3 SubmittersRCV000482310 RCV000766506 RCV002526976

NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)

SNV
Germline

ChrX:153954553

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10557126

rs_372301724

2 SubmittersRCV000503750 RCV001399716

NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)

SNV
Germline

ChrX:153960032

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10557538

rs_782047045

2 SubmittersRCV000499852 RCV003638674

NM_000071.3(CBS):c.816T>A (p.Cys272Ter)

SNV
Germline

Chr21:43063912

Pathogenic/Likely pathogenic

Condition: not provided
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA321094214

rs_528689432

5 SubmittersRCV000507871 RCV000673238 RCV002231187

NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)

SNV
Germline

ChrX:153954507

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10557117

rs_781949446

3 SubmittersRCV000522865 RCV001314423 RCV002527603

NM_005957.5(MTHFR):c.1530G>A (p.Lys510=)

SNV
Germline

Chr1:11793907

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA595335

rs_765586205

2 SubmittersRCV000546103 RCV003470753

NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter)

SNV
Germline

Chr1:11794823

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA595452

rs_377443637

4 SubmittersRCV000538018 RCV004568822

NM_000071.3(CBS):c.430G>C (p.Glu144Gln)

SNV
Germline

Chr21:43066264

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA321097472

rs_121964966

6 SubmittersRCV000538588 RCV001755867 RCV002330936 RCV002530067 RCV003915591

NM_000071.3(CBS):c.887C>T (p.Thr296Met)

SNV
Germline

Chr21:43063020

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321091405

rs_562530775

4 SubmittersRCV000558244 RCV002530068 RCV002377130

NM_000071.3(CBS):c.737-1G>C

SNV
Germline

Chr21:43063992

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA321094412

rs_757428597

5 SubmittersRCV000544919 RCV001260387 RCV002232086 RCV003128628

NM_000071.3(CBS):c.284T>C (p.Ile95Thr)

SNV
Germline

Chr21:43068541

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA410602047

rs_1347662650

4 SubmittersRCV000557426 RCV002232085

NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)

SNV
Germline

Chr21:43065653

Pathogenic

Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
See cases
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA410601403

rs_1347651454

5 SubmittersRCV000587735 RCV002232223 RCV002287426 RCV003459454 RCV002315881

NM_000071.3(CBS):c.904G>A (p.Glu302Lys)

SNV
Germline

Chr21:43063003

Pathogenic/Likely pathogenic

Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA321091356

rs_779270933

4 SubmittersRCV000723460 RCV001805199 RCV002232228 RCV003459461

NM_005957.5(MTHFR):c.1032-6A>G

SNV
Germline

Chr1:11794869

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA595464

rs_2066464

3 SubmittersRCV000591861 RCV001079669 RCV003952969

NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)

SNV
Germline

Chr1:11796319

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA595582

rs_150847674

4 SubmittersRCV000595772 RCV001082026

NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)

SNV
Germline

Chr1:11803114

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA595764

rs_373076763

3 SubmittersRCV000594799 RCV002265818

NM_005957.5(MTHFR):c.111G>A (p.Leu37=)

SNV
Germline

Chr1:11803006

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA416360525

rs_1553188013

2 SubmittersRCV000597835 RCV002531084

NM_005957.5(MTHFR):c.426G>T (p.Leu142=)

SNV
Germline

Chr1:11801210

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA416360072

rs_1553187352

2 SubmittersRCV000594264 RCV002062084

NM_005957.5(MTHFR):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:11803116

Pathogenic/Likely pathogenic

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA595765

rs_776734688

2 SubmittersRCV000599118 RCV002532693

NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser)

SNV
Germline

Chr1:11801399

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA338422769

rs_1553187509

1 SubmittersRCV000625779

NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter)

SNV
Germline

Chr1:11802963

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA17975257

rs_986604359

3 SubmittersRCV000625848 RCV003465361

NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)

SNV
Germline

Chr2:44275766

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1640055

rs_146630359

7 SubmittersRCV001000375 RCV001706690

NM_000071.3(CBS):c.1065G>A (p.Ala355=)

SNV
Germline

Chr21:43060521

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321689824

rs_748552493

4 SubmittersRCV000648127 RCV001311573 RCV002235258 RCV002406433

NM_000071.3(CBS):c.775G>A (p.Gly259Ser)

SNV
Germline

Chr21:43063953

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA321094274

rs_143124288

3 SubmittersRCV002235503 RCV003226347 RCV003459543

NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter)

SNV
Germline

Chr1:11792372

Likely pathogenic

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1553185069

2 SubmittersRCV000657793 RCV003387441

NM_005957.5(MTHFR):c.1163G>A (p.Arg388His)

SNV
Germline

Chr1:11794732

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769953411

2 SubmittersRCV000661921 RCV002263926

NM_000071.3(CBS):c.1358+2T>C

SNV
Unknown

Chr21:43058832

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_866630296

1 SubmittersRCV000665384

NM_000071.3(CBS):c.982G>A (p.Asp328Asn)

SNV
Germline

Chr21:43062368

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Conflicting Classifications

rs_758447354

7 SubmittersRCV000665455 RCV000755891 RCV002233097 RCV003117465

NM_000071.3(CBS):c.1553-2A>C

SNV
Germline

Chr21:43053985

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_760609383

2 SubmittersRCV000671969 RCV002233102

NM_000071.3(CBS):c.862G>A (p.Ala288Thr)

SNV
Germline

Chr21:43063045

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_141502207

5 SubmittersRCV000671575 RCV002282314 RCV004026125

NM_000071.3(CBS):c.829-1G>C

SNV
Unknown

Chr21:43063079

Likely pathogenic

Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555874263

2 SubmittersRCV000673689

NM_000071.3(CBS):c.829-11G>T

SNV
Germline

Chr21:43063089

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Conflicting Classifications

rs_371619788

4 SubmittersRCV000666454 RCV001566836 RCV002060815 RCV003965426

NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)

SNV
Germline

Chr21:43053960

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555869958

2 SubmittersRCV000672976 RCV003495172

NM_000071.3(CBS):c.1553-1G>C

SNV
Germline

Chr21:43053984

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555869979

2 SubmittersRCV000669704 RCV002232803

NM_000071.3(CBS):c.1552+1G>A

SNV
Unknown

Chr21:43056802

Likely pathogenic

Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1434118781

2 SubmittersRCV000670219

NM_000071.3(CBS):c.954+2T>G

SNV
Germline

Chr21:43062951

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555874121

2 SubmittersRCV000672813 RCV002233103

NM_000071.3(CBS):c.828+1G>A

SNV
Germline

Chr21:43063899

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_763290176

9 SubmittersRCV000673023 RCV002060827 RCV002232806 RCV003226363

NM_000071.3(CBS):c.752T>C (p.Leu251Pro)

SNV
Germline

Chr21:43063976

Conflicting classifications of pathogenicity

Classic homocystinuria
CBS-related disorder
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

rs_1176770868

6 SubmittersRCV000671309 RCV003392512 RCV003495170

NM_000071.3(CBS):c.683A>G (p.Asn228Ser)

SNV
Germline

Chr21:43065256

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555874803

4 SubmittersRCV000669206 RCV002232634 RCV003330883

NM_000071.3(CBS):c.451+1G>T

SNV
Germline

Chr21:43066242

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555875292

2 SubmittersRCV000668133 RCV001861765

NM_000071.3(CBS):c.1359-1G>C

SNV
Germline

Chr21:43058254

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_865990681

2 SubmittersRCV000670285 RCV002232804

NM_000071.3(CBS):c.209+2T>C

SNV
Unknown

Chr21:43071983

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_1555876755

1 SubmittersRCV000670125

NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln)

SNV
Germline

Chr2:44301085

Pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Single Submitter

rs_567478582

2 SubmittersRCV000681750 RCV001067849

NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)

SNV
Germline

Chr19:32833195

Pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1007096305

3 SubmittersRCV000681936 RCV002499211

NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)

SNV
Germline

Chr1:11802962

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Schizophrenia
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_754980119

6 SubmittersRCV000690846 RCV002245591 RCV002477553 RCV003459684

NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)

SNV
Germline

Chr1:11794442

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_200688214

3 SubmittersRCV000702419 RCV003313135

NM_000341.4(SLC3A1):c.430+2T>G

SNV
Germline

Chr2:44275967

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_1558450604

1 SubmittersRCV000688389

NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)

SNV
Germline

Chr14:74287858

Pathogenic/Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ
Cobalamin C disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_767795583

3 SubmittersRCV000707417 RCV002265867

NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)

SNV
Germline

ChrX:153954246

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_781783048

2 SubmittersRCV000706024

NM_000071.3(CBS):c.493T>G (p.Cys165Gly)

SNV
Germline

Chr21:43065654

Pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

rs_1234354755

2 SubmittersRCV000704014 RCV002233403

NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)

SNV
Germline

Chr1:11792285

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

rs_145641996

5 SubmittersRCV000731422 RCV001401394 RCV003980376

NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)

SNV
Germline

Chr19:32862151

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140873167

5 SubmittersRCV000778542 RCV002536733

NM_000071.3(CBS):c.526G>A (p.Glu176Lys)

SNV
Germline

Chr21:43065621

Pathogenic

Homocystinuria
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_762065361

3 SubmittersRCV000781199 RCV001220158 RCV002234174

NM_000071.3(CBS):c.209+1G>A

SNV
Germline

Chr21:43071984

Pathogenic/Likely pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_751464024

8 SubmittersRCV001389140 RCV001558321 RCV000780080 RCV002234171 RCV003424337

NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)

SNV
Germline

Chr1:11791260

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_140277700

7 SubmittersRCV000817838 RCV001543555 RCV003461249

NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter)

SNV
Germline

Chr1:11794029

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_139645527

5 SubmittersRCV000791536 RCV003461066

NM_005957.5(MTHFR):c.1320G>T (p.Ser440=)

SNV
Germline

Chr1:11794385

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_367585605

3 SubmittersRCV000809330 RCV002381796

NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)

SNV
Germline

Chr1:11794765

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_750323424

3 SubmittersRCV000810485 RCV003461196

NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)

SNV
Germline

Chr1:11795116

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_368321176

3 SubmittersRCV000813708 RCV003461217

NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)

SNV
Germline

Chr2:44320325

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_776729515

1 SubmittersRCV000798029

NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)

SNV
Germline

Chr21:43060460

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1170128038

4 SubmittersRCV002234919 RCV003886440 RCV002510583

NM_000071.3(CBS):c.68C>T (p.Ser23Leu)

SNV
Germline

Chr21:43072126

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_775785018

4 SubmittersRCV000798452 RCV001538815 RCV002234321 RCV003166168

NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)

SNV
Germline

ChrX:153954836

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782473277

2 SubmittersRCV000821405 RCV002537503

NM_000071.3(CBS):c.1223+1G>T

SNV
Germline

Chr21:43059225

Pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1601339216

2 SubmittersRCV002235005 RCV003485647

NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)

SNV
Germline

Chr2:44275601

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

rs_149507807

2 SubmittersRCV000968928

NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)

SNV
Germline

Chr2:44286063

Conflicting classifications of pathogenicity

Cystinuria
SLC3A1-related disorder

Criteria Provided
Conflicting Classifications

rs_141587158

3 SubmittersRCV000963261 RCV003916118

NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)

SNV
Germline

Chr2:44301117

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143068960

3 SubmittersRCV000967785 RCV001354160

NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=)

SNV
Germline

Chr2:44312651

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_140821819

5 SubmittersRCV000967670 RCV001729765 RCV001729766

NM_000341.4(SLC3A1):c.300C>T (p.Leu100=)

SNV
Germline

Chr2:44275835

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided
SLC3A1-related disorder

Criteria Provided
Conflicting Classifications

rs_115030299

4 SubmittersRCV000884172 RCV001571645 RCV003920605

NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)

SNV
Germline

Chr2:44280851

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140317484

4 SubmittersRCV000880749 RCV001357966

NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)

SNV
Germline

Chr2:44301116

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

rs_760943092

2 SubmittersRCV001140891

NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)

SNV
Germline

Chr2:44312726

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144065614

3 SubmittersRCV000899454 RCV001171945

NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)

SNV
Germline

Chr2:44320470

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

rs_150557210

2 SubmittersRCV001140994

NM_014270.5(SLC7A9):c.829G>A (p.Val277Met)

SNV
Germline

Chr19:32859885

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

rs_147344717

2 SubmittersRCV000904705 RCV001128455

NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=)

SNV
Germline

Chr2:44320222

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

rs_371537299

2 SubmittersRCV000923700 RCV001138419

NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=)

SNV
Germline

Chr2:44320462

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

rs_763292534

2 SubmittersRCV000922544 RCV001140993

NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)

SNV
Germline

Chr1:11796306

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

rs_748571395

5 SubmittersRCV000985005 RCV003461295

NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)

SNV
Germline

Chr1:11802884

Pathogenic/Likely pathogenic

Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_776969786

4 SubmittersRCV000986238 RCV001236475

NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)

SNV
Germline

Chr2:44301075

Conflicting classifications of pathogenicity

Cystine urolithiasis
Cystinuria
SLC3A1-related disorder

Criteria Provided
Conflicting Classifications

rs_375399468

4 SubmittersRCV000991104 RCV001140890 RCV003918618

NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)

SNV
Germline

Chr2:44320221

Conflicting classifications of pathogenicity

Cystine urolithiasis
Cystinuria

Criteria Provided
Conflicting Classifications

rs_368796166

3 SubmittersRCV000991124 RCV001313669

NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter)

SNV
Germline

Chr2:44320592

Pathogenic

Cystine urolithiasis
Cystinuria

Criteria Provided
Single Submitter

rs_1361526419

2 SubmittersRCV000991105 RCV001238859

NM_000341.4(SLC3A1):c.1332+2T>A

SNV
Germline

Chr2:44304340

Pathogenic

Cystine urolithiasis
Cystinuria

Criteria Provided
Single Submitter

rs_758627758

2 SubmittersRCV000991122 RCV003141911

NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)

SNV
Germline

Chr21:43059297

Pathogenic

Classic homocystinuria
Condition: not provided
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1304669003

3 SubmittersRCV001004615 RCV001540545 RCV003994188

NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)

SNV
Germline

Chr21:43058245

Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1981524462

2 SubmittersRCV002240613 RCV004570272

NM_000071.3(CBS):c.954G>A (p.Thr318=)

SNV
Germline

Chr21:43062953

Conflicting classifications of pathogenicity

Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

rs_776122644

3 SubmittersRCV001046424 RCV003311934 RCV002552594

NM_000071.3(CBS):c.451G>A (p.Gly151Arg)

SNV
Germline

Chr21:43066243

Pathogenic

Homocystinuria
Classic homocystinuria
Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_373782713

7 SubmittersRCV001264436 RCV001070719 RCV001585975 RCV002240636 RCV002339345 RCV003918663

NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)

SNV
Germline

ChrX:153954904

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373327413

3 SubmittersRCV001043826 RCV003438654

NM_005957.5(MTHFR):c.237-2A>C

SNV
Germline

Chr1:11801401

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1644381879

1 SubmittersRCV001065420

NM_005050.4(ABCD4):c.426-4C>G

SNV
Germline

Chr14:74296453

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Conflicting Classifications

rs_765378243

2 SubmittersRCV001092315 RCV003769024

NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)

SNV
Germline

ChrX:153954803

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_1273500868

2 SubmittersRCV001093007 RCV002557966

NM_014270.5(SLC7A9):c.*8C>T

SNV
Germline

Chr19:32830612

Conflicting classifications of pathogenicity

Cystinuria
SLC7A9-related disorder

Criteria Provided
Conflicting Classifications

rs_145079057

2 SubmittersRCV001123743 RCV003938474

NM_014270.5(SLC7A9):c.1446G>A (p.Pro482=)

SNV
Germline

Chr19:32830638

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144616352

2 SubmittersRCV001123744 RCV003688908

NM_014270.5(SLC7A9):c.1404G>A (p.Pro468=)

SNV
Germline

Chr19:32830680

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141142633

2 SubmittersRCV001123745 RCV001485629

NM_014270.5(SLC7A9):c.972G>A (p.Ala324=)

SNV
Germline

Chr19:32858445

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_61730903

3 SubmittersRCV001128454 RCV001513236

NM_014270.5(SLC7A9):c.419T>C (p.Phe140Ser)

SNV
Germline

Chr19:32864155

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_752881588

2 SubmittersRCV001123845 RCV001222095

NM_014270.5(SLC7A9):c.177G>A (p.Thr59=)

SNV
Germline

Chr19:32864687

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_771205937

3 SubmittersRCV001126491 RCV002556754 RCV004032269

NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)

SNV
Germline

Chr2:44320407

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

rs_200592320

3 SubmittersRCV001140991

NM_000071.3(CBS):c.1017C>T (p.Ile339=)

SNV
Germline

Chr21:43062333

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Conflicting Classifications

rs_773933333

3 SubmittersRCV001140938 RCV002240655 RCV003898137

NM_000071.3(CBS):c.1146-6C>T

SNV
Germline

Chr21:43059309

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

rs_1981696579

3 SubmittersRCV001140179 RCV002240908

NM_000071.3(CBS):c.684C>A (p.Asn228Lys)

SNV
Germline

Chr21:43065255

Pathogenic

Homocystinuria
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_1464223176

4 SubmittersRCV001175076 RCV001833732 RCV003495233

NM_000071.3(CBS):c.684C>G (p.Asn228Lys)

SNV
Germline

Chr21:43065255

Pathogenic

Homocystinuria

Criteria Provided
Single Submitter

rs_1464223176

1 SubmittersRCV001193391

NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)

SNV
Germline

Chr14:74290302

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200761248

4 SubmittersRCV001200594 RCV002561077 RCV003363148

NM_000071.3(CBS):c.429C>G (p.Ile143Met)

SNV
Germline

Chr21:43066265

Pathogenic/Likely pathogenic

Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_370167302

3 SubmittersRCV001732080 RCV002241315 RCV003117854

NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)

SNV
Germline

Chr2:44281423

Pathogenic/Likely pathogenic

Cystinuria
Condition: not provided
SLC3A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_369641941

5 SubmittersRCV001213233 RCV002508795 RCV003963130

NM_014270.5(SLC7A9):c.604+2T>C

SNV
Germline

Chr19:32862459

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

rs_763110287

3 SubmittersRCV001208000 RCV001262259

NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)

SNV
Germline

ChrX:153952723

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1252960661

2 SubmittersRCV001231378 RCV003246783

NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)

SNV
Germline

ChrX:153951444

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1342469676

2 SubmittersRCV001248497 RCV001814290

NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter)

SNV
Germline

Chr19:32833151

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_1967855547

1 SubmittersRCV001281279

NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)

SNV
Germline

Chr1:11790681

Conflicting classifications of pathogenicity

Intellectual disability
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

rs_749490263

4 SubmittersRCV001252321 RCV002570507 RCV003462833

NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)

SNV
Germline

Chr1:11795156

Conflicting classifications of pathogenicity

Intellectual disability
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

rs_371085894

4 SubmittersRCV001252318 RCV001786456 RCV003469485

NM_005957.5(MTHFR):c.475+1G>T

SNV
Germline

Chr1:11801160

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_748397580

3 SubmittersRCV001253140 RCV003462834

NM_005050.4(ABCD4):c.719+2T>G

SNV
Germline

Chr14:74295146

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

rs_2082518811

1 SubmittersRCV001254054

NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)

SNV
Germline

Chr14:74295966

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Conflicting Classifications

rs_1410990711

2 SubmittersRCV001254055

NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)

SNV
Germline

Chr1:11791248

Pathogenic/Likely pathogenic

Rare genetic intellectual disability
Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001257010 RCV003462838 RCV003770337

NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys)

SNV
Germline

Chr2:44304236

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_1672093819

1 SubmittersRCV001257094

NM_000071.3(CBS):c.941T>C (p.Val314Ala)

SNV
Unknown

Chr21:43062966

Pathogenic

Classic homocystinuria

No Assertion Criteria Provided

rs_1438933819

1 SubmittersRCV001257457

NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly)

SNV
Germline

Chr1:11800322

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1644355976

1 SubmittersRCV001260224

NM_000071.3(CBS):c.1210G>T (p.Glu404Ter)

SNV
Unknown

Chr21:43059239

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_1981682654

1 SubmittersRCV001264020

NM_000071.3(CBS):c.715G>T (p.Glu239Ter)

SNV
Unknown

Chr21:43065224

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_1982493665

1 SubmittersRCV001264021

NM_000071.3(CBS):c.637G>T (p.Glu213Ter)

SNV
Unknown

Chr21:43065416

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_758703098

1 SubmittersRCV001264022

NM_000071.3(CBS):c.529A>T (p.Lys177Ter)

SNV
Unknown

Chr21:43065618

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_1982601982

1 SubmittersRCV001264023

NM_000071.3(CBS):c.430G>T (p.Glu144Ter)

SNV
Unknown

Chr21:43066264

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_121964966

1 SubmittersRCV001264024

NM_005334.3(HCFC1):c.748G>A (p.Val250Met)

SNV
Germline

ChrX:153962271

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_782385961

2 SubmittersRCV001266994 RCV002537694

NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)

SNV
Germline

ChrX:153962297

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782354655

3 SubmittersRCV001265667 RCV001880094 RCV002261329

NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)

SNV
Germline

Chr1:11794825

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_977038830

4 SubmittersRCV001377364 RCV003469502

NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)

SNV
Germline

Chr1:11801177

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_767890671

6 SubmittersRCV001290317 RCV002499515 RCV003462851

NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter)

SNV
Germline

Chr1:11791211

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1314085200

1 SubmittersRCV001386292

NM_005957.5(MTHFR):c.1166+5G>C

SNV
Germline

Chr1:11794724

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_1483632178

3 SubmittersRCV001300805 RCV003462865

NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)

SNV
Germline

ChrX:153952890

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_371874117

2 SubmittersRCV001334385

NM_000071.3(CBS):c.359A>G (p.Asp120Gly)

SNV
Germline

Chr21:43066335

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

rs_1982750491

2 SubmittersRCV001344817 RCV003154004

NM_005957.5(MTHFR):c.584C>T (p.Ala195Val)

SNV
Germline

Chr1:11800214

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_760161369

3 SubmittersRCV001353257 RCV004570861

NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)

SNV
Germline

Chr21:43062343

Likely pathogenic

Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_760417941

3 SubmittersRCV001361230 RCV002420789 RCV003154014

NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter)

SNV
Germline

Chr2:44299995

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_768222969

1 SubmittersRCV001374419

NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)

SNV
Germline

Chr1:11791209

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_1644092513

4 SubmittersRCV001377363 RCV003462949

NM_005957.5(MTHFR):c.474A>T (p.Gly158=)

SNV
Germline

Chr1:11801162

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_199476142

3 SubmittersRCV001377365 RCV003462950

NM_000071.3(CBS):c.869C>T (p.Pro290Leu)

SNV
Germline

Chr21:43063038

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_760912339

3 SubmittersRCV002242773 RCV003883622 RCV004570927

NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter)

SNV
Germline

Chr1:11802915

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_763539350

3 SubmittersRCV001380126 RCV002305606 RCV003462963

NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)

SNV
Germline

Chr2:44301084

Pathogenic/Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_765828196

3 SubmittersRCV001390784

NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)

SNV
Germline

Chr21:43058215

Pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

rs_121964971

3 SubmittersRCV001386107 RCV002242843

NM_000071.3(CBS):c.262C>T (p.Pro88Ser)

SNV
Germline

Chr21:43068563

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_2146413970

2 SubmittersRCV002242808 RCV003462980

NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)

SNV
Germline

Chr1:11794389

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_545086633

4 SubmittersRCV001420163 RCV003463041

NM_000071.3(CBS):c.753G>T (p.Leu251=)

SNV
Germline

Chr21:43063975

Conflicting classifications of pathogenicity

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Conflicting Classifications

rs_2146375662

2 SubmittersRCV002240270 RCV001455036

NM_014270.5(SLC7A9):c.978-17G>A

SNV
Germline

Chr19:32843968

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria
SLC7A9-related disorder

Criteria Provided
Conflicting Classifications

rs_45628833

4 SubmittersRCV001513121 RCV002488321 RCV003948508

NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)

SNV
Unknown

Chr19:32864639

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_753121162

1 SubmittersRCV001536102

NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val)

SNV
Germline

Chr19:32864655

Likely pathogenic

Cystinuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_769448665

2 SubmittersRCV001535874 RCV001873796

NM_000071.3(CBS):c.862G>C (p.Ala288Pro)

SNV
Germline

Chr21:43063045

Likely pathogenic

Homocystinuria

Criteria Provided
Single Submitter

rs_141502207

1 SubmittersRCV001553570

NM_014270.5(SLC7A9):c.120G>A (p.Val40=)

SNV
Germline

Chr19:32864744

Pathogenic/Likely pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_140179068

4 SubmittersRCV001730281 RCV002272488

NM_000341.4(SLC3A1):c.766-2A>C

SNV
Germline

Chr2:44286030

Pathogenic/Likely pathogenic

Cystinuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_201376169

2 SubmittersRCV001761809 RCV003237461

NM_014270.5(SLC7A9):c.1400-2A>G

SNV
Unknown

Chr19:32830686

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_2145788754

1 SubmittersRCV001784990

NM_005957.5(MTHFR):c.1270G>T (p.Glu424Ter)

SNV
Germline

Chr1:11794435

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_1476689323

1 SubmittersRCV001782466

NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=)

SNV
Germline

Chr2:44300090

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_772810111

1 SubmittersRCV003506537

NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter)

SNV
Germline

Chr19:32833242

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_988712826

1 SubmittersRCV001783776

NM_000071.3(CBS):c.667-1G>C

SNV
Germline

Chr21:43065273

Pathogenic

Classic homocystinuria

No Assertion Criteria Provided

rs_1982513394

1 SubmittersRCV001787317

NM_005957.5(MTHFR):c.1793T>G (p.Leu598Arg)

SNV
Germline

Chr1:11790858

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_786204034

1 SubmittersRCV001808247

NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)

SNV
Germline

Chr1:11801290

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

rs_1056919085

4 SubmittersRCV001808302 RCV003464148

NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)

SNV
Germline

ChrX:153950358

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_2065298662

2 SubmittersRCV001817492 RCV002077287

NM_000071.3(CBS):c.1039+1G>T

SNV
Germline

Chr21:43062310

Pathogenic

Homocystinuria

Criteria Provided
Single Submitter

rs_2146362992

1 SubmittersRCV001825051

NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser)

SNV
Germline

Chr1:11801299

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_147257424

1 SubmittersRCV001838859

NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)

SNV
Germline

ChrX:153954347

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_111385795

2 SubmittersRCV001844619 RCV003638823

NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)

SNV
Germline

Chr2:44320380

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141944551

3 SubmittersRCV001849666 RCV004571122

NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)

SNV
Germline

ChrX:153954795

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1439756712

3 SubmittersRCV002004490 RCV003170133 RCV003438907

NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys)

SNV
Germline

Chr1:11794826

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_779993607

2 SubmittersRCV001999864 RCV004571709

NM_000341.4(SLC3A1):c.891+2T>C

SNV
Germline

Chr2:44286159

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_2104342335

1 SubmittersRCV001999110

NM_000341.4(SLC3A1):c.1366C>A (p.Arg456Ser)

SNV
Germline

Chr2:44312619

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_139251285

1 SubmittersRCV001961514

NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter)

SNV
Germline

Chr1:11794443

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_200137991

1 SubmittersRCV001953816

NM_005957.5(MTHFR):c.475+1G>A

SNV
Germline

Chr1:11801160

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_748397580

1 SubmittersRCV001995318

NM_000071.3(CBS):c.210-1G>C

SNV
Germline

Chr21:43068616

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_2146414477

2 SubmittersRCV002017343 RCV003464378

NM_000341.4(SLC3A1):c.1011+3A>G

SNV
Germline

Chr2:44300093

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_1206425661

1 SubmittersRCV001977751

NM_005957.5(MTHFR):c.177G>A (p.Trp59Ter)

SNV
Germline

Chr1:11802940

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_767789270

1 SubmittersRCV001939988

NM_000341.4(SLC3A1):c.638C>G (p.Pro213Arg)

SNV
Germline

Chr2:44281414

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_369603431

1 SubmittersRCV002013904

NM_005957.5(MTHFR):c.495G>A (p.Trp165Ter)

SNV
Germline

Chr1:11800303

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_774118546

1 SubmittersRCV001941557

NM_005957.5(MTHFR):c.451A>T (p.Lys151Ter)

SNV
Germline

Chr1:11801185

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_2100566841

1 SubmittersRCV001963017

NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu)

SNV
Germline

Chr2:44301085

Pathogenic/Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_567478582

3 SubmittersRCV001956176

NM_000341.4(SLC3A1):c.1592C>G (p.Ser531Ter)

SNV
Germline

Chr2:44313926

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_2104385536

1 SubmittersRCV001972524

NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter)

SNV
Germline

Chr2:44281446

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_542026439

1 SubmittersRCV001947095

NM_005957.5(MTHFR):c.476-1G>A

SNV
Germline

Chr1:11800323

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_2100562061

1 SubmittersRCV002035641

NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr)

SNV
Germline

Chr1:11800275

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_1182635980

2 SubmittersRCV001985134 RCV003471099

NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)

SNV
Germline

Chr21:43060505

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Homocystinuria
Classic homocystinuria

Criteria Provided
Conflicting Classifications

rs_745764562

4 SubmittersRCV002244591 RCV002427733 RCV003226536 RCV003464409

NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter)

SNV
Germline

Chr1:11791302

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_2100499494

1 SubmittersRCV002247150

NM_000071.3(CBS):c.667-14C>G

SNV
Germline

Chr21:43065286

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

rs_1388184910

2 SubmittersRCV002272703 RCV003096132

NM_000071.3(CBS):c.784A>G (p.Thr262Ala)

SNV
Germline

Chr21:43063944

Likely pathogenic

Condition: not provided
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002293059 RCV003101691 RCV004572125

NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)

SNV
Unknown

Chr21:43060511

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV002309720

NM_005957.5(MTHFR):c.2T>A (p.Met1Lys)

SNV
Germline

Chr1:11803115

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003093571

NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln)

SNV
Germline

Chr1:11794371

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003078768 RCV003250754

NM_000071.3(CBS):c.949A>G (p.Arg317Gly)

SNV
Germline

Chr21:43062958

Pathogenic/Likely pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003075119 RCV003234597

NM_005957.5(MTHFR):c.781-1G>A

SNV
Germline

Chr1:11795349

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002588344 RCV003459753

NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)

SNV
Germline

Chr2:44275801

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV002612511

NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu)

SNV
Germline

Chr1:11791244

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002630048

NM_005334.3(HCFC1):c.193+16G>T

SNV
Germline

ChrX:153970632

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002510306 RCV003775561

NM_005957.5(MTHFR):c.1348-1G>C

SNV
Germline

Chr1:11794090

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510619 RCV003465778

NM_000071.3(CBS):c.262C>G (p.Pro88Ala)

SNV
Germline

Chr21:43068563

Conflicting classifications of pathogenicity

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002601595 RCV003340518

NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter)

SNV
Germline

Chr1:11795166

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002627735

NM_005957.5(MTHFR):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:11803115

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002720888

NM_000341.4(SLC3A1):c.1136+1G>T

SNV
Germline

Chr2:44301128

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV002755885

NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)

SNV
Germline

ChrX:153955427

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002922791

NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)

SNV
Germline

Chr1:11795126

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002933069 RCV003465867

NM_000341.4(SLC3A1):c.1136+2T>C

SNV
Germline

Chr2:44301129

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV002923352

NM_005957.5(MTHFR):c.780+3G>A

SNV
Germline

Chr1:11796203

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002962665 RCV003963516

NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)

SNV
Germline

ChrX:153950521

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003002280 RCV003002279

NM_005957.5(MTHFR):c.1530+1G>T

SNV
Germline

Chr1:11793906

Likely pathogenic

Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465902 RCV003026952

NM_005957.5(MTHFR):c.1682G>A (p.Trp561Ter)

SNV
Germline

Chr1:11791277

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003048912

NM_014270.5(SLC7A9):c.206G>A (p.Trp69Ter)

SNV
Germline

Chr19:32864658

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003140582

NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)

SNV
Germline

Chr1:11792306

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003132696 RCV003459784

NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)

SNV
Germline

ChrX:153955139

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003131101

NM_000341.4(SLC3A1):c.891+4A>G

SNV
Germline

Chr2:44286161

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003134071

NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)

SNV
Germline

Chr19:32842182

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003131530

NM_000071.3(CBS):c.955-2A>G

SNV
Germline

Chr21:43062397

Likely pathogenic

Homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003155600

NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)

SNV
Germline

Chr2:44280721

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003156163

NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)

SNV
Germline

Chr2:44304326

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003156164

NM_000071.3(CBS):c.767G>T (p.Gly256Val)

SNV
Germline

Chr21:43063961

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003234731

NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)

SNV
Germline

ChrX:153954554

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003317878 RCV003638937

NM_000341.4(SLC3A1):c.242G>T (p.Arg81Leu)

SNV
Germline

Chr2:44275777

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003332928

NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)

SNV
Unknown

Chr2:44304194

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003333288

NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)

SNV
Germline

ChrX:153954641

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003349152 RCV003523162

NM_005957.5(MTHFR):c.781-6G>A

SNV
Germline

Chr1:11795354

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003389932

NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)

SNV
Germline

Chr21:43058886

Likely pathogenic

CBS-related disorder
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003404293 RCV004572969

NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)

SNV
Germline

ChrX:153951988

Conflicting classifications of pathogenicity

HCFC1-related disorder
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003419150 RCV003638953

NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)

SNV
Germline

ChrX:153954910

Conflicting classifications of pathogenicity

HCFC1-related disorder
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003418775 RCV003638951

NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)

SNV
Germline

ChrX:153952817

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003432646 RCV003638959

NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)

SNV
Germline

ChrX:153954423

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003440015 RCV003778462

NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)

SNV
Germline

Chr1:11792307

Likely pathogenic

Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003461960 RCV003523191

NM_005957.5(MTHFR):c.1347+1G>A

SNV
Germline

Chr1:11794357

Pathogenic

Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003461967 RCV003523192

NM_005957.5(MTHFR):c.237-2A>G

SNV
Germline

Chr1:11801401

Pathogenic

Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003470266 RCV003523193

NM_000071.3(CBS):c.689T>A (p.Leu230Gln)

SNV
Unknown

Chr21:43065250

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460335

NM_000071.3(CBS):c.1358+2T>A

SNV
Unknown

Chr21:43058832

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460336

NM_000071.3(CBS):c.727C>T (p.Gln243Ter)

SNV
Germline

Chr21:43065212

Pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460337 RCV003495344

NM_000071.3(CBS):c.913G>A (p.Gly305Arg)

SNV
Unknown

Chr21:43062994

Pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460338

NM_000071.3(CBS):c.1039+2T>C

SNV
Unknown

Chr21:43062309

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460339

NM_000071.3(CBS):c.407T>C (p.Leu136Pro)

SNV
Unknown

Chr21:43066287

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460340

NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)

SNV
Unknown

Chr21:43058156

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460342

NM_000071.3(CBS):c.209+1G>T

SNV
Unknown

Chr21:43071984

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460343

NM_000071.3(CBS):c.1359-2A>T

SNV
Unknown

Chr21:43058255

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460344

NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)

SNV
Unknown

Chr21:43058933

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460345

NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)

SNV
Unknown

Chr21:43058874

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460350

NM_000071.3(CBS):c.889G>T (p.Glu297Ter)

SNV
Germline

Chr21:43063018

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460351 RCV003779148

NM_000071.3(CBS):c.694C>G (p.His232Asp)

SNV
Unknown

Chr21:43065245

Pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460352

NM_000071.3(CBS):c.1145+1G>A

SNV
Germline

Chr21:43060440

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460353 RCV003598178

NM_000071.3(CBS):c.1040-2A>G

SNV
Unknown

Chr21:43060548

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460355

NM_000071.3(CBS):c.796A>G (p.Arg266Gly)

SNV
Unknown

Chr21:43063932

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460356

NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)

SNV
Germline

Chr21:43062314

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003448861

NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)

SNV
Unknown

Chr19:32862577

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003455848

NM_005334.3(HCFC1):c.939A>G (p.Thr313=)

SNV
Germline

ChrX:153960380

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003486110

NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)

SNV
Germline

Chr14:74287840

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV003531448

NM_005050.4(ABCD4):c.1457-1G>C

SNV
Germline

Chr14:74288766

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV003534209

NM_005957.5(MTHFR):c.780+1G>A

SNV
Germline

Chr1:11796205

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003525253

NM_005957.5(MTHFR):c.237-1G>T

SNV
Germline

Chr1:11801400

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003525254

NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)

SNV
Germline

Chr2:44280737

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003506534

NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)

SNV
Germline

Chr2:44281541

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003506536

NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)

SNV
Germline

Chr2:44320221

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003506538

NM_000341.4(SLC3A1):c.1975C>T (p.Gln659Ter)

SNV
Germline

Chr2:44320556

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003506543

NM_005957.5(MTHFR):c.1032-1G>C

SNV
Germline

Chr1:11794864

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003523641

NM_005957.5(MTHFR):c.1531-1G>C

SNV
Germline

Chr1:11792380

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003523665

NM_005957.5(MTHFR):c.835G>T (p.Glu279Ter)

SNV
Germline

Chr1:11795294

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003524706

NM_005957.5(MTHFR):c.1142G>A (p.Trp381Ter)

SNV
Germline

Chr1:11794753

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003636097 RCV004574156

NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)

SNV
Germline

Chr14:74289501

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV003648439

NM_005957.5(MTHFR):c.1530+1G>A

SNV
Germline

Chr1:11793906

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003637937 RCV004573161

NM_005957.5(MTHFR):c.1297G>T (p.Glu433Ter)

SNV
Germline

Chr1:11794408

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003638062

NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)

SNV
Germline

Chr2:44281396

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003616826

NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter)

SNV
Germline

Chr1:11794848

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003635548

NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)

SNV
Germline

Chr1:11796208

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003636670

NM_005957.5(MTHFR):c.1167G>A (p.Trp389Ter)

SNV
Germline

Chr1:11794538

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003636755

NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)

SNV
Germline

ChrX:153958616

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003639256 RCV004374311

NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)

SNV
Germline

Chr14:74296421

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV003873123

NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)

SNV
Germline

ChrX:153950542

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblX

No Assertion Criteria Provided

1 SubmittersRCV003985697

NM_005957.5(MTHFR):c.1596C>G (p.Tyr532Ter)

SNV
Germline

Chr1:11792314

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004515786

NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)

SNV
Germline

Chr21:43058835

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV003989272

NM_000071.3(CBS):c.210-2A>C

SNV
Germline

Chr21:43068617

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018179

NM_000071.3(CBS):c.452-2A>C

SNV
Germline

Chr21:43065697

Pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018180

NM_000071.3(CBS):c.833T>G (p.Ile278Ser)

SNV
Germline

Chr21:43063074

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018181

NM_000071.3(CBS):c.955-2A>T

SNV
Germline

Chr21:43062397

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018182

NM_000071.3(CBS):c.1039+2T>G

SNV
Germline

Chr21:43062309

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018213

NM_000071.3(CBS):c.955-2A>C

SNV
Germline

Chr21:43062397

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004018214

NM_000341.4(SLC3A1):c.503C>A (p.Ser168Ter)

SNV
Unknown

Chr2:44280788

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004557283

NM_000071.3(CBS):c.829-1G>T

SNV
Unknown

Chr21:43063079

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004575494

NM_000071.3(CBS):c.883C>T (p.Gln295Ter)

SNV
Unknown

Chr21:43063024

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004575495

NM_000071.3(CBS):c.1229G>A (p.Trp410Ter)

SNV
Unknown

Chr21:43058963

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004575496

NM_000071.3(CBS):c.1039+1G>A

SNV
Unknown

Chr21:43062310

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004575497