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 Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA113874	rs_121964962	17 SubmittersRCV000000137 RCV000000138 RCV000078112 RCV000173641 RCV000366433 RCV002313701 RCV003914786
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	7 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	20 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 See cases Thoracic aortic aneurysm or dissection	Criteria Provided Multiple Submitters No Conflicts	CA113880	rs_5742905	39 SubmittersRCV000000142 RCV000000141 RCV000078111 RCV000173640 RCV000781197 RCV001252178 RCV002310621 RCV002276525 RCV003128384 RCV004584135
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	Likely pathogenic	Homocystinuria, pyridoxine-responsive Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	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 Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113891	rs_121964969	7 SubmittersRCV000000147 RCV001192721 RCV002227958 RCV000469164 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 CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA113893	rs_28934891	13 SubmittersRCV000000149 RCV000000148 RCV000078108 RCV000174656 RCV000781196 RCV002381232 RCV004754226
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	Criteria Provided Conflicting Classifications	CA113895	rs_121964970	10 SubmittersRCV000000150 RCV000179250 RCV000458159 RCV002227959 RCV002310622 RCV002265542
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.1265C>T (p.Pro422Leu)	SNV Germline	Chr21:43058927	Conflicting classifications of pathogenicity	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Classic homocystinuria	Criteria Provided Conflicting Classifications	CA113898	rs_28934892	7 SubmittersRCV000000152 RCV000522394 RCV002444412 RCV000675050
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	Homocystinuria, pyridoxine-nonresponsive Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113902	rs_121964972	11 SubmittersRCV000000154 RCV000078106 RCV000169466 RCV002227961 RCV002271361 RCV004018522
NM_000071.3(CBS):c.572C>T (p.Thr191Met)	SNV Germline	Chr21:43065481	Pathogenic	Homocystinuria, pyridoxine-nonresponsive Condition: not provided Homocystinuria Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA113904	rs_121964973	14 SubmittersRCV000000155 RCV000195441 RCV000589097 RCV000576767 RCV002227962 RCV003914787 RCV004018523
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter)	SNV Germline	Chr1:11800251	Pathogenic	Abnormality of metabolism/homeostasis Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278050	rs_121434294	5 SubmittersRCV001813944 RCV001209716
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 Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278053	rs_121434295	6 SubmittersRCV001382824 RCV002476918 RCV003460410 RCV004719616
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser)	SNV Germline	Chr1:11795158	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278055	rs_267606887	4 SubmittersRCV002225067
NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly)	SNV Germline	Chr1:11795114	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA278057	rs_267606886	3 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	8 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 Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia Thrombophilia due to thrombin defect	Criteria Provided Multiple Submitters No Conflicts	CA278061	rs_121434297	5 SubmittersRCV002512718 RCV003466798 RCV005007812
NM_014270.5(SLC7A9):c.508G>A (p.Val170Met)	SNV Germline	Chr19:32862557	Pathogenic	Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA117721	rs_121908479	3 SubmittersRCV000006136
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	SNV Germline	Chr19:32864261	Pathogenic/Likely pathogenic	Cystinuria Condition: not provided SLC7A9-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117723	rs_121908480	16 SubmittersRCV000006137 RCV000523825 RCV004752686
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	SNV Germline	Chr19:32862521	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided Inborn genetic diseases SLC7A9-related disorder	Criteria Provided Conflicting Classifications	CA211245	rs_79389353	20 SubmittersRCV000006138 RCV000480556 RCV004018572 RCV004752687
NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)	SNV Germline	Chr19:32862482	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA117725	rs_121908482	2 SubmittersRCV000006139
NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg)	SNV Germline	Chr19:32859939	Likely pathogenic	Cystinuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117727	rs_121908483	3 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	8 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	2 SubmittersRCV000006144
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)	SNV Germline	Chr19:32862127	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA117735	rs_121908487	5 SubmittersRCV000006147 RCV002512820
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	14 SubmittersRCV000006149 RCV001390782
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	SNV Germline	Chr2:44312653	Pathogenic/Likely pathogenic	Cystinuria Condition: not provided See cases Inborn genetic diseases SLC3A1-related disorder Kidney disorder	Criteria Provided Multiple Submitters No Conflicts	CA127830	rs_121912691	29 SubmittersRCV000019743 RCV000413736 RCV002251914 RCV004018645 RCV004754266 RCV005624699
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)	SNV Germline	Chr2:44312653	Pathogenic/Likely pathogenic	Cystinuria Condition: not provided SLC3A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA127831	rs_121912691	8 SubmittersRCV000019744 RCV001580112 RCV003415724
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro)	SNV Germline	Chr2:44320614	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA127832	rs_121912693	2 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.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	5 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	CA390379573	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	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX Intellectual disability Disorders of Intracellular Cobalamin Metabolism Cobalamin C disease	Criteria Provided Conflicting Classifications	CA144902	rs_397515486	7 SubmittersRCV000224484 RCV000057507 RCV000224133 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 Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274154	rs_398123151	14 SubmittersRCV000078105 RCV000169310 RCV001280568 RCV002228199 RCV003905038
NM_000071.3(CBS):c.435G>A (p.Pro145=)	SNV Germline	Chr21:43066259	Conflicting classifications of pathogenicity	Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA220355	rs_148782895	5 SubmittersRCV000078109 RCV002228201 RCV001088690 RCV004700387 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 Methylmalonic acidemia with homocystinuria, type cblX not specified HCFC1-related disorder	Criteria Provided Conflicting Classifications	CA231158	rs_201404751	8 SubmittersRCV000117215 RCV001520721 RCV000599889 RCV003952568
NM_000071.3(CBS):c.829-13G>A	SNV Germline	Chr21:43063091	Conflicting classifications of pathogenicity	not specified Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided CBS-related disorder	Criteria Provided Conflicting Classifications	CA289976	rs_201106576	6 SubmittersRCV000124151 RCV000287047 RCV002228268 RCV002227066 RCV003915241
NM_000071.3(CBS):c.*18G>A	SNV Germline	Chr21:43053862	Conflicting classifications of pathogenicity	not specified Condition: not provided Classic homocystinuria	Criteria Provided Conflicting Classifications	CA289979	rs_200259659	5 SubmittersRCV000124158 RCV001698966 RCV001142671
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	3 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 Condition: not provided Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198643	rs_749765738	6 SubmittersRCV000167617 RCV001753577 RCV002492678 RCV003468815
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe)	SNV Germline	Chr1:11792304	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA198640	rs_786204028	3 SubmittersRCV000167616 RCV005603603
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 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 Multiple Submitters No Conflicts	CA198633	rs_367585605	4 SubmittersRCV000167613 RCV003462250 RCV002498831
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)	SNV Germline	Chr1:11794443	Pathogenic/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 Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency not specified Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications	CA198614	rs_543016186	6 SubmittersRCV000167606 RCV005396499 RCV004526623 RCV003468814
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.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 Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198586	rs_574132670	8 SubmittersRCV000167596 RCV000993916 RCV005419880 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.202C>G (p.Arg68Gly)	SNV Germline	Chr1:11802915	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect	Criteria Provided Multiple Submitters No Conflicts	CA198565	rs_763539350	8 SubmittersRCV000167589 RCV003462246 RCV005008085
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_005957.5(MTHFR):c.136C>T (p.Arg46Trp)	SNV Germline	Chr1:11802981	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency not specified	Criteria Provided Conflicting Classifications	CA198556	rs_138189536	3 SubmittersRCV000167586 RCV005406874
NM_000071.3(CBS):c.1358+1G>A	SNV Germline	Chr21:43058833	Pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter	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	Classic homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA274005	rs_763036586	5 SubmittersRCV000169171 RCV000480748 RCV002517626 RCV004689648
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	SNV Germline	Chr21:43062311	Pathogenic	Condition: not provided Classic homocystinuria Homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA273978	rs_771298943	11 SubmittersRCV000197584 RCV000169132 RCV000780082 RCV002390401 RCV002228607
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	SNV Germline	Chr21:43063958	Pathogenic/Likely pathogenic	Classic homocystinuria Condition: not provided Hyperhomocysteinemia HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED See cases Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA274140	rs_758236584	9 SubmittersRCV000169294 RCV000197988 RCV000790997 RCV002228778 RCV003128393 RCV000780084
NM_000071.3(CBS):c.362G>A (p.Arg121His)	SNV Germline	Chr21:43066332	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA274172	rs_770095972	6 SubmittersRCV000169322 RCV001192720 RCV002228611 RCV002453568
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	SNV Germline	Chr21:43066348	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.302T>C (p.Leu101Pro)	SNV Germline	Chr21:43068523	Pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274473	rs_786204757	5 SubmittersRCV000169617 RCV001251397 RCV002228615 RCV004754328
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 Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Schizophrenia MTHFR-related disorder Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA239275	rs_45449298	7 SubmittersRCV000173820 RCV000763727 RCV003947466 RCV001081882
NM_000071.3(CBS):c.992C>T (p.Ala331Val)	SNV Germline	Chr21:43062358	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Intellectual disability HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Conflicting Classifications	CA239449	rs_777919630	6 SubmittersRCV000173977 RCV004601121 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA239721	rs_148589243	9 SubmittersRCV000474043 RCV000420634 RCV002517673 RCV002415740 RCV004800313
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	SNV Germline	Chr21:43066320	Pathogenic	Classic homocystinuria Condition: not provided Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA275291	rs_781444670	12 SubmittersRCV000178709 RCV000723426 RCV001804908 RCV002228790 RCV004821993
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 Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA275440	rs_149119723	10 SubmittersRCV000180461 RCV000200469 RCV001251422 RCV002228800 RCV004821994
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	Methylmalonic acidemia with homocystinuria, type cblX not specified HCFC1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA209474	rs_376049260	7 SubmittersRCV000638561 RCV000194960 RCV003947606 RCV001726038
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_005334.3(HCFC1):c.905-3C>T	SNV Germline	ChrX:153960417	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA209887	rs_200367055	3 SubmittersRCV000195219 RCV001325203
NM_000071.3(CBS):c.1479G>A (p.Thr493=)	SNV Germline	Chr21:43056876	Conflicting classifications of pathogenicity	not specified Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320891	rs_143225442	8 SubmittersRCV000196475 RCV000471233 RCV002229438 RCV001726039 RCV002310757
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	SNV Germline	Chr21:43058912	Conflicting classifications of pathogenicity	Condition: not provided not specified HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Conflicting Classifications	CA321746	rs_863223434	5 SubmittersRCV000197292 RCV000584030 RCV002517170 RCV003462306
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 Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA320740	rs_769080151	7 SubmittersRCV000196320 RCV000763061 RCV001853130 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 Homocystinuria Familial thoracic aortic aneurysm and aortic dissection CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA320805	rs_372010465	9 SubmittersRCV000196393 RCV000410135 RCV002229026 RCV003401061 RCV002433873 RCV003895256
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	SNV Germline	Chr21:43060481	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Connective tissue disorder not specified Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Congenital myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA324371	rs_117687681	22 SubmittersRCV000231839 RCV000514877 RCV002277461 RCV001526851 RCV002310759 RCV002517167 RCV003401060 RCV005621912 RCV005404373
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	CA320011	rs_745704046	7 SubmittersRCV000689266 RCV000781198 RCV002228831 RCV003221852
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)	SNV Germline	Chr21:43066297	Conflicting classifications of pathogenicity	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322517	rs_539326697	8 SubmittersRCV000198043 RCV001271170 RCV002517162 RCV002277460 RCV005438358
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	SNV Germline	Chr21:43066300	Conflicting classifications of pathogenicity	Classic homocystinuria Intellectual disability Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA320193	rs_140002610	15 SubmittersRCV000460928 RCV001252179 RCV000726351 RCV003993881 RCV002315523 RCV002517995
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 CBS-related disorder HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA324303	rs_778220779	12 SubmittersRCV000199752 RCV000248928 RCV000535881 RCV000588375 RCV004754347 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 Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA321707	rs_199948079	3 SubmittersRCV000409663 RCV002282028 RCV002229029
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	SNV Germline	Chr21:43072048	Pathogenic/Likely pathogenic	Condition: not provided Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA325105	rs_148865119	12 SubmittersRCV000200523 RCV000410155 RCV002310761 RCV002229028
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 not specified HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA323483	rs_201372812	6 SubmittersRCV000198945 RCV001081627 RCV002381662 RCV004767135 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	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA16044132	rs_1057519361	2 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 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 Conflicting Classifications	CA16044133	rs_1057519360	5 SubmittersRCV000416816 RCV002503824 RCV003468969
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	5 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 not specified	Criteria Provided Conflicting Classifications	CA10583888	rs_370514077	7 SubmittersRCV000328152 RCV001552886 RCV002229640 RCV002315676 RCV005437987
NM_000071.3(CBS):c.1472G>A (p.Arg491His)	SNV Germline	Chr21:43056883	Conflicting classifications of pathogenicity	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Classic homocystinuria	Criteria Provided Conflicting Classifications	CA10587936	rs_747419767	5 SubmittersRCV003153545 RCV004021015 RCV000483442 RCV001299974
NM_000071.3(CBS):c.1161C>T (p.Ser387=)	SNV Germline	Chr21:43059288	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10587939	rs_149280976	6 SubmittersRCV000540125 RCV001722373 RCV002310893 RCV002229818
NM_000071.3(CBS):c.786G>A (p.Thr262=)	SNV Germline	Chr21:43063942	Conflicting classifications of pathogenicity	Classic homocystinuria Condition: not provided Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA10587943	rs_551782391	5 SubmittersRCV000320891 RCV001610766 RCV002311198 RCV003153547
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_000071.3(CBS):c.1208C>T (p.Thr403Met)	SNV Germline	Chr21:43059241	Conflicting classifications of pathogenicity	Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Classic homocystinuria	Criteria Provided Conflicting Classifications	CA10604053	rs_886042297	6 SubmittersRCV000372121 RCV002518836 RCV005532617 RCV003144192
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_000341.4(SLC3A1):c.1381T>C (p.Tyr461His)	SNV Germline	Chr2:44312634	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications	CA1640572	rs_144162964	6 SubmittersRCV000319754 RCV001048270
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 Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect Schizophrenia	Criteria Provided Conflicting Classifications	CA595534	rs_142612062	3 SubmittersRCV000320382 RCV001081108 RCV005396889
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.1409A>T (p.Glu470Val)	SNV Germline	Chr1:11794028	Conflicting classifications of pathogenicity	MTHFR-related disorder Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia	Criteria Provided Conflicting Classifications	CA595360	rs_142617551	5 SubmittersRCV003977821 RCV001086063 RCV005256507 RCV002494906
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)	SNV Germline	Chr1:11790890	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA595188	rs_115049252	7 SubmittersRCV001086227 RCV000733915 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 Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Condition: not provided	Criteria Provided Conflicting Classifications	CA595581	rs_200100285	4 SubmittersRCV001894913 RCV002468946 RCV002506924 RCV004691452
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	3 SubmittersRCV000277152
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	SNV Germline	Chr2:44286074	Pathogenic	Cystinuria Autism spectrum disorder Condition: not provided SLC3A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1640281	rs_200483989	14 SubmittersRCV000332132 RCV003313951 RCV001723928 RCV004754396
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	6 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 Familial thoracic aortic aneurysm and aortic dissection Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder	Criteria Provided Conflicting Classifications	CA10644735	rs_539670390	6 SubmittersRCV000430115 RCV004021848 RCV000867368 RCV002230705 RCV003912431
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	5 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	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED CBS-related disorder Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Classic homocystinuria	Criteria Provided Conflicting Classifications	CA10653006	rs_149809170	6 SubmittersRCV002231052 RCV003932361 RCV001698128 RCV002374585 RCV000862590
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	Classic homocystinuria	Criteria Provided Single Submitter	CA16041996	rs_1057516645	2 SubmittersRCV000412412
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	SNV Germline	Chr21:43062343	Pathogenic	Classic homocystinuria Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16041997	rs_760417941	6 SubmittersRCV000409189 RCV001584104 RCV002230729
NM_000071.3(CBS):c.959T>C (p.Val320Ala)	SNV Germline	Chr21:43062391	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	No Assertion Criteria Provided	CA16042000	rs_746575551	1 SubmittersRCV000411137
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	SNV Germline	Chr21:43065263	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA16042003	rs_763835246	7 SubmittersRCV000412334 RCV001527049 RCV003168587 RCV002230214
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	SNV Germline	Chr21:43066252	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA16042005	rs_755952006	7 SubmittersRCV000411624 RCV001193389 RCV003314591 RCV002230731 RCV002328897
NM_000071.3(CBS):c.316+1G>A	SNV Germline	Chr21:43068508	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter	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	4 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 ABCD4-related disorder	Criteria Provided Conflicting Classifications	CA7266821	rs_45568335	7 SubmittersRCV000443723 RCV000763942 RCV004758013
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 Methylmalonic aciduria and homocystinuria, cb1L type	Criteria Provided Single Submitter	CA396396088	rs_188675529	3 SubmittersRCV000498990 RCV002522728 RCV004719023
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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA16616548	rs_112029370	6 SubmittersRCV000459701 RCV000497848 RCV001704553 RCV002525534 RCV002436393
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	Criteria Provided Multiple Submitters No Conflicts	CA16621012	rs_757920190	4 SubmittersRCV000482454 RCV003155205 RCV003464007 RCV003495133
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)	SNV Germline	ChrX:153952837	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	Criteria Provided Conflicting Classifications	CA10556937	rs_781788935	3 SubmittersRCV000482310 RCV002526976 RCV000766506
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 Familial thoracic aortic aneurysm and aortic dissection Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA321094214	rs_528689432	7 SubmittersRCV000507871 RCV005306050 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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA595335	rs_765586205	3 SubmittersRCV000546103 RCV003470753 RCV004592577
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	5 SubmittersRCV000538018 RCV004568822
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)	SNV Germline	Chr21:43066264	Conflicting classifications of pathogenicity	Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided CBS-related disorder not specified	Criteria Provided Conflicting Classifications	CA321097472	rs_121964966	7 SubmittersRCV000538588 RCV002330936 RCV002530067 RCV001755867 RCV003915591 RCV005407728
NM_000071.3(CBS):c.887C>T (p.Thr296Met)	SNV Germline	Chr21:43063020	Conflicting classifications of pathogenicity	Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Conflicting Classifications	CA321091405	rs_562530775	7 SubmittersRCV000558244 RCV002377130 RCV002530068 RCV004791561
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	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Conflicting Classifications	CA410602047	rs_1347662650	4 SubmittersRCV002232085 RCV000557426
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)	SNV Germline	Chr21:43065653	Pathogenic	Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection See cases Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA410601403	rs_1347651454	5 SubmittersRCV000587735 RCV002232223 RCV002315881 RCV002287426 RCV003459454
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	SNV Germline	Chr21:43063003	Conflicting classifications of pathogenicity	Homocystinuria Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Conflicting Classifications	CA321091356	rs_779270933	4 SubmittersRCV001805199 RCV000723460 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 not specified	Criteria Provided Conflicting Classifications	CA595582	rs_150847674	5 SubmittersRCV000595772 RCV001082026 RCV004701685
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 Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA595764	rs_373076763	4 SubmittersRCV000594799 RCV002265818 RCV005004264
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	4 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321689824	rs_748552493	4 SubmittersRCV000648127 RCV002235258 RCV001311573 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	CA338475414	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 not specified	Criteria Provided Conflicting Classifications	CA595435	rs_769953411	3 SubmittersRCV000661921 RCV002263926 RCV004689830
NM_000071.3(CBS):c.1358+2T>C	SNV Unknown	Chr21:43058832	Likely pathogenic	Classic homocystinuria	No Assertion Criteria Provided	CA410396862	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 CBS-related disorder	Criteria Provided Conflicting Classifications	CA321090579	rs_758447354	8 SubmittersRCV000665455 RCV000755891 RCV002233097 RCV003117465 RCV004754522
NM_000071.3(CBS):c.650C>T (p.Ser217Phe)	SNV Germline	Chr21:43065403	Likely pathogenic	Classic homocystinuria Homocystinuria	Criteria Provided Single Submitter	CA410600786	rs_1555874874	2 SubmittersRCV000673555 RCV005407871
NM_000071.3(CBS):c.1553-2A>C	SNV Germline	Chr21:43053985	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter	CA410394984	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	CA321091505	rs_141502207	5 SubmittersRCV000671575 RCV002282314 RCV004026125
NM_000071.3(CBS):c.829-1G>C	SNV Unknown	Chr21:43063079	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410600194	rs_1555874263	2 SubmittersRCV000673689
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)	SNV Germline	Chr21:43053960	Pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter	CA410394837	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 Single Submitter	CA410394975	rs_1555869979	2 SubmittersRCV000669704 RCV002232803
NM_000071.3(CBS):c.1552+1G>A	SNV Germline	Chr21:43056802	Pathogenic/Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA410395508	rs_1434118781	3 SubmittersRCV000670219 RCV005091950
NM_000071.3(CBS):c.954+2T>G	SNV Germline	Chr21:43062951	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter	CA410599926	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	CA321094209	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	CA410600363	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	CA410600619	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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410601597	rs_1555875292	3 SubmittersRCV000668133 RCV001861765 RCV004792364
NM_000071.3(CBS):c.1359-1G>C	SNV Germline	Chr21:43058254	Likely pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Single Submitter	CA410396829	rs_865990681	2 SubmittersRCV000670285 RCV002232804
NM_000071.3(CBS):c.209+2T>C	SNV Unknown	Chr21:43071983	Likely pathogenic	Classic homocystinuria	No Assertion Criteria Provided	CA410602215	rs_1555876755	1 SubmittersRCV000670125
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln)	SNV Germline	Chr2:44301085	Pathogenic/Likely pathogenic	Condition: not provided Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA1640408	rs_567478582	3 SubmittersRCV000681750 RCV001067849
NM_014270.5(SLC7A9):c.325G>A (p.Ala109Thr)	SNV Germline	Chr19:32864249	Likely pathogenic	Condition: not provided Cystinuria	Criteria Provided Single Submitter	CA9358870	rs_750849536	2 SubmittersRCV000681929 RCV005027841
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)	SNV Germline	Chr19:32833195	Pathogenic	Condition: not provided Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA307484383	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 Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA595734	rs_754980119	6 SubmittersRCV000690846 RCV002477553 RCV002245591 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	CA595405	rs_200688214	3 SubmittersRCV000702419 RCV003313135
NM_000341.4(SLC3A1):c.430+2T>G	SNV Germline	Chr2:44275967	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346686679	rs_1558450604	1 SubmittersRCV000688389
NM_005050.4(ABCD4):c.1752+2T>C	SNV Germline	Chr14:74286699	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Conflicting Classifications	CA7266613	rs_151116417	2 SubmittersRCV000697468
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7266682	rs_767795583	4 SubmittersRCV000707417 RCV002265867 RCV005054255
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	CA10557061	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	CA410601405	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	CA595283	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	CA9358732	rs_140873167	6 SubmittersRCV000778542 RCV002536733
NM_000071.3(CBS):c.526G>A (p.Glu176Lys)	SNV Germline	Chr21:43065621	Pathogenic	Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA410601279	rs_762065361	4 SubmittersRCV000781199 RCV002234174 RCV001220158 RCV004754561
NM_000071.3(CBS):c.209+1G>A	SNV Germline	Chr21:43071984	Pathogenic/Likely pathogenic	Homocystinuria CBS-related disorder Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA321103728	rs_751464024	8 SubmittersRCV000780080 RCV003424337 RCV001558321 RCV001389140 RCV002234171
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)	SNV Germline	Chr1:11791260	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Condition: not provided Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect	Criteria Provided Multiple Submitters No Conflicts	CA595248	rs_140277700	9 SubmittersRCV000817838 RCV003461249 RCV001543555 RCV005012368
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA338477231	rs_139645527	6 SubmittersRCV000791536 RCV003461066 RCV005092381
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)	SNV Germline	Chr1:11794765	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia	Criteria Provided Multiple Submitters No Conflicts	CA595443	rs_750323424	5 SubmittersRCV000810485 RCV005054269 RCV003461196 RCV005012348
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	CA595487	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	CA1640749	rs_776729515	1 SubmittersRCV000798029
NM_014270.5(SLC7A9):c.511C>T (p.Arg171Trp)	SNV Germline	Chr19:32862554	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications	CA9358801	rs_758242098	4 SubmittersRCV000809411 RCV004761805
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)	SNV Germline	Chr21:43060460	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410397989	rs_1170128038	4 SubmittersRCV002234919 RCV002510583 RCV003886440
NM_000071.3(CBS):c.68C>T (p.Ser23Leu)	SNV Germline	Chr21:43072126	Conflicting classifications of pathogenicity	Condition: not provided HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Classic homocystinuria	Criteria Provided Conflicting Classifications	CA321104075	rs_775785018	4 SubmittersRCV001538815 RCV002234321 RCV003166168 RCV000798452
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	CA10557170	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	CA410397610	rs_1601339216	2 SubmittersRCV002235005 RCV003485647
NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr)	SNV Germline	Chr19:32843869	Conflicting classifications of pathogenicity	not specified Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA307490283	rs_939028046	4 SubmittersRCV000825652 RCV005411585 RCV002538223
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln)	SNV Germline	Chr1:11794029	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder Condition: not provided Thrombophilia due to thrombin defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia	Criteria Provided Conflicting Classifications	CA595361	rs_139645527	5 SubmittersRCV001085040 RCV003972965 RCV005256509 RCV005392605
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)	SNV Germline	Chr2:44275601	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640008	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA1640276	rs_141587158	5 SubmittersRCV000963261 RCV003916118 RCV004792587
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)	SNV Germline	Chr2:44301117	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided SLC3A1-related disorder	Criteria Provided Conflicting Classifications	CA1640421	rs_143068960	4 SubmittersRCV000967785 RCV001354160 RCV004754655
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=)	SNV Germline	Chr2:44312651	Conflicting classifications of pathogenicity	Cystinuria not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1640576	rs_140821819	5 SubmittersRCV000967670 RCV001729766 RCV001729765
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	CA1640079	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	CA1640163	rs_140317484	5 SubmittersRCV000880749 RCV001357966
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)	SNV Germline	Chr2:44301116	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640420	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	CA1640594	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	CA1640791	rs_150557210	2 SubmittersRCV001140994
NM_014270.5(SLC7A9):c.829G>A (p.Val277Met)	SNV Germline	Chr19:32859885	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358619	rs_147344717	4 SubmittersRCV001128455 RCV000904705
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	CA1640724	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	CA1640788	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 Schizophrenia Thrombophilia due to thrombin defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications	CA595578	rs_748571395	7 SubmittersRCV000985005 RCV003461295 RCV005012406
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	CA17975236	rs_776969786	4 SubmittersRCV000986238 RCV001236475
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)	SNV Germline	Chr2:44301075	Conflicting classifications of pathogenicity	Cystinuria Cystine urolithiasis SLC3A1-related disorder	Criteria Provided Conflicting Classifications	CA1640404	rs_375399468	4 SubmittersRCV001140890 RCV000991104 RCV003918618
NM_000341.4(SLC3A1):c.1113C>A (p.Tyr371Ter)	SNV Germline	Chr2:44301104	Pathogenic	Cystine urolithiasis Cystinuria	Criteria Provided Single Submitter	CA1640415	rs_768467260	3 SubmittersRCV000991110 RCV004761853
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)	SNV Germline	Chr2:44320221	Pathogenic/Likely pathogenic	Cystine urolithiasis Cystinuria SLC3A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1640722	rs_368796166	4 SubmittersRCV000991124 RCV001313669 RCV004754669
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter)	SNV Germline	Chr2:44320592	Pathogenic	Cystine urolithiasis Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA346687521	rs_1361526419	4 SubmittersRCV000991105 RCV001238859
NM_014270.5(SLC7A9):c.151T>C (p.Ser51Pro)	SNV Germline	Chr19:32864713	Pathogenic/Likely pathogenic	Cystine urolithiasis Cystinuria	No Assertion Criteria Provided	CA405204531	rs_1599688589	2 SubmittersRCV000991120 RCV004761854
NM_000341.4(SLC3A1):c.1332+2T>A	SNV Germline	Chr2:44304340	Pathogenic	Cystine urolithiasis Cystinuria	Criteria Provided Single Submitter	CA1640520	rs_758627758	3 SubmittersRCV000991122 RCV003141911
NM_014270.5(SLC7A9):c.1399+5G>C	SNV Germline	Chr19:32833144	Likely pathogenic	Cystine urolithiasis Cystinuria	Criteria Provided Single Submitter	CA506665133	rs_1599648136	3 SubmittersRCV000991107 RCV004761852
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)	SNV Germline	Chr21:43059297	Pathogenic	Classic homocystinuria Homocystinuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410397847	rs_1304669003	3 SubmittersRCV001004615 RCV003994188 RCV001540545
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	CA410396812	rs_1981524462	2 SubmittersRCV002240613 RCV004570272
NM_000071.3(CBS):c.954G>A (p.Thr318=)	SNV Germline	Chr21:43062953	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided	Criteria Provided Conflicting Classifications	CA321091258	rs_776122644	3 SubmittersRCV001046424 RCV002552594 RCV003311934
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)	SNV Germline	Chr21:43066243	Pathogenic	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Homocystinuria CBS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA321097418	rs_373782713	7 SubmittersRCV001070719 RCV002240636 RCV002339345 RCV001585975 RCV001264436 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	CA10557183	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	CA338422779	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	CA615018864	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415122800	rs_1273500868	3 SubmittersRCV001093007 RCV002557966 RCV005572460
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys)	SNV Germline	Chr1:11793920	Conflicting classifications of pathogenicity	Global developmental delay Lower limb spasticity Mental deterioration Bilateral tonic-clonic seizure Delayed speech and language development Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA595338	rs_764650203	3 SubmittersRCV001261545 RCV003132225
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	CA9358386	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	CA9358394	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	CA9358568	rs_61730903	4 SubmittersRCV001128454 RCV001513236
NM_014270.5(SLC7A9):c.639C>T (p.Gly213=)	SNV Germline	Chr19:32862183	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358737	rs_763216072	2 SubmittersRCV001122758 RCV005093558
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	CA9358845	rs_752881588	5 SubmittersRCV001123845 RCV001222095
NM_014270.5(SLC7A9):c.369G>A (p.Thr123=)	SNV Germline	Chr19:32864205	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA9358859	rs_144880180	2 SubmittersRCV001123846 RCV005093567
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	CA9358928	rs_771205937	4 SubmittersRCV001126491 RCV002556754 RCV004032269
NM_000341.4(SLC3A1):c.201G>T (p.Gly67=)	SNV Germline	Chr2:44275736	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640050	rs_771021431	2 SubmittersRCV001140778
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His)	SNV Germline	Chr2:44312620	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640568	rs_373852467	3 SubmittersRCV001137998
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)	SNV Germline	Chr2:44320407	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640768	rs_200592320	3 SubmittersRCV001140991
NM_000071.3(CBS):c.1017C>T (p.Ile339=)	SNV Germline	Chr21:43062333	Conflicting classifications of pathogenicity	Classic homocystinuria CBS-related disorder HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA321090515	rs_773933333	3 SubmittersRCV001140938 RCV003898137 RCV002240655
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	CA1139666881	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	CA410600617	rs_1464223176	4 SubmittersRCV001175076 RCV001833732 RCV003495233
NM_000071.3(CBS):c.684C>G (p.Asn228Lys)	SNV Germline	Chr21:43065255	Pathogenic	Homocystinuria Classic homocystinuria	Criteria Provided Single Submitter	CA410600615	rs_1464223176	2 SubmittersRCV001193391 RCV005606774
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	CA7266864	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 Homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA410601680	rs_370167302	4 SubmittersRCV001732080 RCV004768939 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	CA1640202	rs_369641941	6 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	CA9358773	rs_763110287	4 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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415112225	rs_1252960661	3 SubmittersRCV001231378 RCV005411685 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	CA415104415	rs_1342469676	2 SubmittersRCV001248497 RCV001814290
NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter)	SNV Germline	Chr19:32833151	Pathogenic/Likely pathogenic	Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA405196688	rs_1967855547	2 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	CA595139	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 Schizophrenia Thrombophilia due to thrombin defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA595494	rs_371085894	7 SubmittersRCV001252318 RCV001786456 RCV003469485 RCV005012694 RCV005420385
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	CA595658	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	CA390376084	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	CA390377152	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	CA338474408	rs_1434449406	3 SubmittersRCV001257010 RCV003462838 RCV003770337
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys)	SNV Germline	Chr2:44304236	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346682756	rs_1672093819	1 SubmittersRCV001257094
NM_000071.3(CBS):c.941T>C (p.Val314Ala)	SNV Unknown	Chr21:43062966	Pathogenic	Classic homocystinuria	No Assertion Criteria Provided	CA410599956	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	CA338422139	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	CA410397661	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	CA410600498	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	CA410600840	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	CA410601265	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	CA410601677	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	CA10557615	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 not specified	Criteria Provided Conflicting Classifications	CA10557621	rs_782354655	4 SubmittersRCV001265667 RCV001880094 RCV002261329 RCV005437051
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	CA18001313	rs_977038830	5 SubmittersRCV001377364 RCV003469502
NM_005957.5(MTHFR):c.602A>C (p.His201Pro)	SNV Germline	Chr1:11796384	Likely pathogenic	Generalized cerebral atrophy/hypoplasia Homocystinuria due to methylene tetrahydrofolate reductase deficiency	No Assertion Criteria Provided	CA338481072	rs_1644256586	2 SubmittersRCV001281375 RCV005606799
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	SNV Germline	Chr1:11801177	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA595667	rs_767890671	8 SubmittersRCV001290317 RCV005367813 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	CA338474262	rs_1314085200	1 SubmittersRCV001386292
NM_005957.5(MTHFR):c.1166+5G>C	SNV Germline	Chr1:11794724	Pathogenic/Likely pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA521455042	rs_1483632178	3 SubmittersRCV003462865 RCV001300805
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)	SNV Germline	Chr2:44320377	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640762	rs_146963107	2 SubmittersRCV001298344
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)	SNV Germline	ChrX:153952769	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA10556922	rs_782310209	3 SubmittersRCV001327000 RCV005572548 RCV004597984
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	CA10556947	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	CA410601870	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	CA595628	rs_760161369	3 SubmittersRCV001353257 RCV004570861
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)	SNV Germline	Chr21:43062343	Pathogenic/Likely pathogenic	Classic homocystinuria Familial thoracic aortic aneurysm and aortic dissection HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA410599798	rs_760417941	3 SubmittersRCV001361230 RCV002420789 RCV003154014
NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter)	SNV Germline	Chr2:44299995	Pathogenic	Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA1640333	rs_768222969	2 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	CA338474248	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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA17974656	rs_199476142	4 SubmittersRCV001377365 RCV003462950 RCV005005224
NM_000071.3(CBS):c.869C>T (p.Pro290Leu)	SNV Germline	Chr21:43063038	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria Classic homocystinuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA321091497	rs_760912339	4 SubmittersRCV002242773 RCV005237766 RCV004570927 RCV003883622
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	CA595726	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	CA1640407	rs_765828196	4 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	CA410396749	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	CA410602097	rs_2146413970	2 SubmittersRCV002242808 RCV003462980
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)	SNV Germline	Chr1:11794389	Likely pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA18000968	rs_545086633	6 SubmittersRCV003463041 RCV001420163 RCV004796633
NM_000071.3(CBS):c.753G>T (p.Leu251=)	SNV Germline	Chr21:43063975	Conflicting classifications of pathogenicity	Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Conflicting Classifications	CA2499225927	rs_2146375662	2 SubmittersRCV001455036 RCV002240270
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	CA9358539	rs_45628833	5 SubmittersRCV001513121 RCV002488321 RCV003948508
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)	SNV Unknown	Chr19:32864639	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA9358915	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	CA9358922	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	CA410600125	rs_141502207	1 SubmittersRCV001553570
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)	SNV Germline	Chr19:32864744	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications	CA9358941	rs_140179068	6 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	CA1640267	rs_201376169	2 SubmittersRCV001761809 RCV003237461
NM_014270.5(SLC7A9):c.1400-2A>G	SNV Unknown	Chr19:32830686	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA405196055	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	CA338478566	rs_1476689323	1 SubmittersRCV001782466
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=)	SNV Germline	Chr2:44300090	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA1640355	rs_772810111	2 SubmittersRCV003506537
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter)	SNV Germline	Chr19:32833242	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA307484393	rs_988712826	1 SubmittersRCV001783776
NM_000071.3(CBS):c.667-1G>C	SNV Germline	Chr21:43065273	Pathogenic	Classic homocystinuria	No Assertion Criteria Provided	CA410600687	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	CA338473938	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	CA17974700	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	CA519697051	rs_2065298662	2 SubmittersRCV001817492 RCV002077287
NM_000071.3(CBS):c.1039+1G>T	SNV Germline	Chr21:43062310	Pathogenic	Homocystinuria	Criteria Provided Single Submitter	CA410599729	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	CA595689	rs_147257424	1 SubmittersRCV001838859
NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys)	SNV Germline	Chr14:74297932	Pathogenic/Likely pathogenic	Cobalamin C disease Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Multiple Submitters No Conflicts	CA7267230	rs_776529140	2 SubmittersRCV001844616 RCV005095315
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	CA10557085	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	CA1640763	rs_141944551	5 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	CA415122743	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	CA595453	rs_779993607	2 SubmittersRCV001999864 RCV004571709
NM_000071.3(CBS):c.473C>T (p.Ala158Val)	SNV Germline	Chr21:43065674	Pathogenic/Likely pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Condition: not provided Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA410601473	rs_1376851289	3 SubmittersRCV002024992 RCV004770339 RCV005238137
NM_000341.4(SLC3A1):c.891+2T>C	SNV Germline	Chr2:44286159	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346690346	rs_2104342335	1 SubmittersRCV001999110
NM_000341.4(SLC3A1):c.1366C>A (p.Arg456Ser)	SNV Germline	Chr2:44312619	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346684324	rs_139251285	1 SubmittersRCV001961514
NM_014270.5(SLC7A9):c.376G>A (p.Ala126Thr)	SNV Germline	Chr19:32864198	Pathogenic/Likely pathogenic	Condition: not provided Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA9358857	rs_372306844	2 SubmittersRCV001937378 RCV005023319
NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter)	SNV Germline	Chr1:11794443	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA338478615	rs_200137991	2 SubmittersRCV001953816 RCV005253980
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	CA338422151	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	CA410602207	rs_2146414477	2 SubmittersRCV002017343 RCV003464378
NM_014270.5(SLC7A9):c.604+1G>A	SNV Germline	Chr19:32862460	Pathogenic	Condition: not provided Cystinuria	Criteria Provided Single Submitter	CA405202706	rs_1968829014	2 SubmittersRCV001927821 RCV004762237
NM_000341.4(SLC3A1):c.1011+3A>G	SNV Germline	Chr2:44300093	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA769126885	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	CA338423012	rs_767789270	1 SubmittersRCV001939988
NM_000341.4(SLC3A1):c.638C>G (p.Pro213Arg)	SNV Germline	Chr2:44281414	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA46490957	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	CA595640	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	CA338422198	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	CA1640409	rs_567478582	3 SubmittersRCV001956176
NM_000341.4(SLC3A1):c.1592C>G (p.Ser531Ter)	SNV Germline	Chr2:44313926	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346684954	rs_2104385536	1 SubmittersRCV001972524
NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter)	SNV Germline	Chr2:44281446	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA1640208	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	CA338422143	rs_2100562061	1 SubmittersRCV002035641
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr)	SNV Germline	Chr1:11800275	Pathogenic/Likely pathogenic	Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA338422026	rs_1182635980	3 SubmittersRCV003471099 RCV001985134
NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp)	SNV Germline	Chr1:11801167	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Conflicting Classifications	CA595662	rs_776195746	2 SubmittersRCV001980512
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly)	SNV Germline	ChrX:153954944	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415123886	rs_868914963	2 SubmittersRCV002164478 RCV005350921
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)	SNV Germline	Chr21:43060505	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria Familial thoracic aortic aneurysm and aortic dissection Classic homocystinuria	Criteria Provided Conflicting Classifications	CA321689765	rs_745764562	5 SubmittersRCV002244591 RCV003226536 RCV002427733 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	CA338474622	rs_2100499494	1 SubmittersRCV002247150
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)	SNV Germline	Chr14:74290323	Likely pathogenic	Cobalamin C disease Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Multiple Submitters No Conflicts	CA7266871	rs_745414252	2 SubmittersRCV002271817 RCV005008502
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	CA1022642348	rs_1388184910	2 SubmittersRCV002272703 RCV003096132
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)	SNV Germline	Chr21:43063944	Likely pathogenic	Condition: not provided Classic homocystinuria HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA410600302	rs_2517436753	3 SubmittersRCV002293059 RCV004572125 RCV003101691
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)	SNV Unknown	Chr21:43060511	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410398170	rs_2517412566	1 SubmittersRCV002309720
NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg)	SNV Germline	Chr19:32864647	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria SLC7A9-related disorder	Criteria Provided Conflicting Classifications	CA307510692	rs_138156402	3 SubmittersRCV003064572 RCV005028143 RCV003418723
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	CA338423386	rs_1644429362	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	CA595390	rs_774694621	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	CA321091261	rs_775432669	4 SubmittersRCV003075119 RCV003234597
NM_005957.5(MTHFR):c.1531-12T>A	SNV Germline	Chr1:11792391	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA595305	rs_747182653	2 SubmittersRCV003092604 RCV004775293
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)	SNV Germline	ChrX:153952153	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA337250889	rs_909217502	2 SubmittersRCV002599359 RCV005353109
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	CA338480524	rs_1644230120	2 SubmittersRCV002588344 RCV003459753
NM_005957.5(MTHFR):c.395G>A (p.Arg132His)	SNV Germline	Chr1:11801241	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA595677	rs_149514973	2 SubmittersRCV002611796 RCV003404109
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)	SNV Germline	Chr2:44275801	Pathogenic/Likely pathogenic	Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA346686329	rs_1453871309	2 SubmittersRCV002612511
NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu)	SNV Germline	Chr1:11791244	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA595245	rs_144508139	2 SubmittersRCV002630048 RCV005425067
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	CA338477549	rs_2522857846	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	CA410602098	rs_2146413970	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	CA338480134	rs_375254845	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	CA338423387	rs_1644429362	1 SubmittersRCV002720888
NM_014270.5(SLC7A9):c.1304G>A (p.Trp435Ter)	SNV Germline	Chr19:32833244	Pathogenic/Likely pathogenic	Condition: not provided Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA9358437	rs_753324280	2 SubmittersRCV002741350 RCV005027935
NM_000341.4(SLC3A1):c.1136+1G>T	SNV Germline	Chr2:44301128	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346681481	rs_1461067691	1 SubmittersRCV002755885
NM_005957.5(MTHFR):c.1418G>A (p.Arg473Gln)	SNV Germline	Chr1:11794019	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA595357	rs_144594875	2 SubmittersRCV002890818 RCV004790269
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	CA10557253	rs_782636507	2 SubmittersRCV002922791
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)	SNV Germline	Chr1:11795126	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications	CA595489	rs_748289202	4 SubmittersRCV002933069 RCV004801255 RCV003465867
NM_000341.4(SLC3A1):c.1136+2T>C	SNV Germline	Chr2:44301129	Pathogenic/Likely pathogenic	Cystinuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1640427	rs_766198611	5 SubmittersRCV002923352 RCV005620456
NM_014270.5(SLC7A9):c.1445C>T (p.Pro482Leu)	SNV Germline	Chr19:32830639	Pathogenic	Condition: not provided Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA9358388	rs_146815072	2 SubmittersRCV002938899 RCV005028045
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	CA10556733	rs_781904041	2 SubmittersRCV003002280 RCV003002279
NM_005957.5(MTHFR):c.1530+1G>T	SNV Germline	Chr1:11793906	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA18000623	rs_928393582	2 SubmittersRCV003026952 RCV003465902
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	CA338474523	rs_2522818191	1 SubmittersRCV003048912
NM_005957.5(MTHFR):c.476-2A>C	SNV Germline	Chr1:11800324	Likely pathogenic	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter	CA338422146	rs_2522943706	2 SubmittersRCV003126324 RCV005608927
NM_014270.5(SLC7A9):c.206G>A (p.Trp69Ter)	SNV Germline	Chr19:32864658	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA405204286	rs_2513609886	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 Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA595285	rs_773360881	3 SubmittersRCV003132696 RCV003459784 RCV005011238
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)	SNV Germline	ChrX:153955139	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10557222	rs_782325371	3 SubmittersRCV003131101 RCV004634223
NM_000341.4(SLC3A1):c.891+4A>G	SNV Germline	Chr2:44286161	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA2580066535	rs_2465902056	1 SubmittersRCV003134071
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)	SNV Germline	Chr19:32842182	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA405197793	rs_766981518	1 SubmittersRCV003131530
NM_000071.3(CBS):c.955-2A>G	SNV Germline	Chr21:43062397	Likely pathogenic	Homocystinuria	Criteria Provided Single Submitter	CA410599924	rs_2517425362	1 SubmittersRCV003155600
NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)	SNV Germline	Chr2:44280721	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346688012	rs_1249821286	1 SubmittersRCV003156163
NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)	SNV Germline	Chr2:44304326	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346683161	rs_2465949850	2 SubmittersRCV003156164
NM_000071.3(CBS):c.767G>T (p.Gly256Val)	SNV Germline	Chr21:43063961	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410600333	rs_1157774154	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	CA10557127	rs_374515131	2 SubmittersRCV003317878 RCV003638937
NM_000341.4(SLC3A1):c.242G>T (p.Arg81Leu)	SNV Germline	Chr2:44275777	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640058	rs_201617723	2 SubmittersRCV003332928
NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)	SNV Germline	Chr2:44304194	Pathogenic/Likely pathogenic	Cystinuria	Criteria Provided Multiple Submitters No Conflicts	CA346682528	rs_374750983	2 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	CA10557134	rs_374683078	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	CA2695197967	rs_2522885017	2 SubmittersRCV003389932
NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)	SNV Germline	Chr21:43058886	Pathogenic/Likely pathogenic	CBS-related disorder HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Classic homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA410397097	rs_1354271840	3 SubmittersRCV003404293 RCV005061393 RCV004572969
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)	SNV Germline	ChrX:153951988	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX HCFC1-related disorder	Criteria Provided Conflicting Classifications	CA10556864	rs_373226992	2 SubmittersRCV003638953 RCV003419150
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	CA519702216	rs_2521554733	2 SubmittersRCV003418775 RCV003638951
NM_014270.5(SLC7A9):c.230C>T (p.Thr77Met)	SNV Germline	Chr19:32864634	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications	CA9358910	rs_375205018	2 SubmittersRCV003415182 RCV005030029
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	CA10556929	rs_781955447	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	CA415118394	rs_1569546724	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	CA595286	rs_760886915	3 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	CA18000899	rs_911127028	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	CA338422778	rs_1644381879	2 SubmittersRCV003470266 RCV003523193
NM_000071.3(CBS):c.689T>A (p.Leu230Gln)	SNV Unknown	Chr21:43065250	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410600601	rs_1411597530	1 SubmittersRCV003460335
NM_000071.3(CBS):c.1358+2T>A	SNV Unknown	Chr21:43058832	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410396864	rs_866630296	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	CA410600450	rs_2517442518	2 SubmittersRCV003460337 RCV003495344
NM_000071.3(CBS):c.913G>A (p.Gly305Arg)	SNV Unknown	Chr21:43062994	Pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410600017	rs_1178687976	1 SubmittersRCV003460338
NM_000071.3(CBS):c.1039+2T>C	SNV Unknown	Chr21:43062309	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410599726	rs_2517424159	1 SubmittersRCV003460339
NM_000071.3(CBS):c.407T>C (p.Leu136Pro)	SNV Germline	Chr21:43066287	Pathogenic/Likely pathogenic	Classic homocystinuria Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA321097579	rs_775937459	2 SubmittersRCV003460340 RCV005062970
NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)	SNV Unknown	Chr21:43058156	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410396598	rs_2517394724	1 SubmittersRCV003460342
NM_000071.3(CBS):c.209+1G>T	SNV Unknown	Chr21:43071984	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410602217	rs_751464024	1 SubmittersRCV003460343
NM_000071.3(CBS):c.1359-2A>T	SNV Unknown	Chr21:43058255	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410396830	rs_2517395819	1 SubmittersRCV003460344
NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)	SNV Unknown	Chr21:43058933	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410397342	rs_2517399972	1 SubmittersRCV003460345
NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)	SNV Unknown	Chr21:43058874	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410397041	rs_1449634173	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	CA410600070	rs_1298089659	2 SubmittersRCV003460351 RCV003779148
NM_000071.3(CBS):c.694C>G (p.His232Asp)	SNV Unknown	Chr21:43065245	Pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410600584	rs_1982504069	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	CA410397929	rs_2517411603	2 SubmittersRCV003460353 RCV003598178
NM_000071.3(CBS):c.1040-2A>G	SNV Unknown	Chr21:43060548	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410398297	rs_2517413127	1 SubmittersRCV003460355
NM_000071.3(CBS):c.796A>G (p.Arg266Gly)	SNV Unknown	Chr21:43063932	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410600280	rs_2517436554	1 SubmittersRCV003460356
NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)	SNV Germline	Chr21:43062314	Likely pathogenic	Classic homocystinuria	Criteria Provided Single Submitter	CA410599740	rs_2517424268	1 SubmittersRCV003448861
NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)	SNV Unknown	Chr19:32862577	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA405202939	rs_748402420	1 SubmittersRCV003455848
NM_005957.5(MTHFR):c.1011G>T (p.Gly337=)	SNV Germline	Chr1:11795118	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Criteria Provided Single Submitter		rs_755483936	1 SubmittersRCV004577963
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	CA10557573	rs_782309363	2 SubmittersRCV003486110
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)	SNV Germline	ChrX:153954182	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX not specified	Criteria Provided Conflicting Classifications	CA10557051	rs_782239008	3 SubmittersRCV003523885 RCV005419642
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)	SNV Germline	ChrX:153958240	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX not specified	Criteria Provided Conflicting Classifications	CA415134464	rs_1557115716	2 SubmittersRCV003522184 RCV005240801
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)	SNV Germline	ChrX:153954710	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10557155	rs_782575778	2 SubmittersRCV003522420 RCV004634282
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)	SNV Germline	ChrX:153955539	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX not specified	Criteria Provided Conflicting Classifications	CA10557261	rs_782075466	2 SubmittersRCV003525179 RCV004783076
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)	SNV Germline	Chr14:74287840	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter	CA7266676	rs_769298254	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	CA390379493	rs_1408519111	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	CA338480534	rs_786204020	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	CA338422772	rs_2522961067	1 SubmittersRCV003525254
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)	SNV Germline	Chr2:44275953	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA1640109	rs_768848958	2 SubmittersRCV003506533
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)	SNV Germline	Chr2:44280737	Likely pathogenic	Cystinuria	Criteria Provided Single Submitter	CA1640137	rs_778354350	1 SubmittersRCV003506534
NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)	SNV Germline	Chr2:44281541	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346689364	rs_2466682288	1 SubmittersRCV003506536
NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)	SNV Germline	Chr2:44320221	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346686735	rs_368796166	1 SubmittersRCV003506538
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)	SNV Germline	Chr2:44320526	Conflicting classifications of pathogenicity	Cystinuria	Criteria Provided Conflicting Classifications	CA346687379	rs_1484579709	2 SubmittersRCV003506542
NM_000341.4(SLC3A1):c.1975C>T (p.Gln659Ter)	SNV Germline	Chr2:44320556	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346687445	rs_1324540640	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	CA338479924	rs_2522876133	1 SubmittersRCV003523641
NM_000071.3(CBS):c.456C>G (p.Ile152Met)	SNV Germline	Chr21:43065691	Pathogenic	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED Homocystinuria	Criteria Provided Multiple Submitters No Conflicts	CA410601527	rs_769438280	2 SubmittersRCV003494765 RCV005240833
NM_014270.5(SLC7A9):c.546G>A (p.Ala182=)	SNV Germline	Chr19:32862519	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications	CA9358789	rs_75036167	2 SubmittersRCV003562765 RCV005030122
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	CA338475453	rs_2522835468	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	CA595526	rs_147750177	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	CA338479378	rs_1644212098	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	CA390379655	rs_2505238680	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	CA338476579	rs_928393582	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	CA338478085	rs_2100523280	1 SubmittersRCV003638062
NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)	SNV Germline	Chr2:44281396	Pathogenic	Cystinuria	Criteria Provided Single Submitter	CA346689032	rs_2466681808	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	CA338479848	rs_2522875756	1 SubmittersRCV003635548
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)	SNV Germline	ChrX:153954749	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10557159	rs_782252923	2 SubmittersRCV003638367 RCV005575211
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)	SNV Germline	ChrX:153955058	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	Criteria Provided Conflicting Classifications	CA10557204	rs_373753660	2 SubmittersRCV003638435 RCV004790596
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	CA338480540	rs_2522894898	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	CA338479140	rs_1570473609	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	CA337256529	rs_997841591	2 SubmittersRCV003639256 RCV004374311
NM_014270.5(SLC7A9):c.749+16G>A	SNV Germline	Chr19:32860590	Conflicting classifications of pathogenicity	Cystinuria Condition: not provided	Criteria Provided Conflicting Classifications	CA307505959	rs_368278789	2 SubmittersRCV005030257 RCV003737769
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)	SNV Germline	ChrX:153951640	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10556812	rs_372299853	3 SubmittersRCV003826113 RCV004790629 RCV004366789
NM_014270.5(SLC7A9):c.217G>C (p.Gly73Arg)	SNV Germline	Chr19:32864647	Conflicting classifications of pathogenicity	Condition: not provided Cystinuria	Criteria Provided Conflicting Classifications	CA9358918	rs_138156402	2 SubmittersRCV003858603 RCV005030326

SNV
Germline

Chr21:43062988

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA113874

rs_121964962

17 SubmittersRCV000000137 RCV000000138 RCV000078112 RCV000173641 RCV000366433 RCV002313701 RCV003914786

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

7 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

20 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
See cases
Thoracic aortic aneurysm or dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA113880

rs_5742905

39 SubmittersRCV000000142 RCV000000141 RCV000078111 RCV000173640 RCV000781197 RCV001252178 RCV002310621 RCV002276525 RCV003128384 RCV004584135

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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Multiple Submitters
No Conflicts

CA113891

rs_121964969

7 SubmittersRCV000000147 RCV001192721 RCV002227958 RCV000469164 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
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA113893

rs_28934891

13 SubmittersRCV000000149 RCV000000148 RCV000078108 RCV000174656 RCV000781196 RCV002381232 RCV004754226

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

Criteria Provided
Conflicting Classifications

CA113895

rs_121964970

10 SubmittersRCV000000150 RCV000179250 RCV000458159 RCV002227959 RCV002310622 RCV002265542

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.1265C>T (p.Pro422Leu)

SNV
Germline

Chr21:43058927

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA113898

rs_28934892

7 SubmittersRCV000000152 RCV000522394 RCV002444412 RCV000675050

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA113902

rs_121964972

11 SubmittersRCV000000154 RCV000078106 RCV000169466 RCV002227961 RCV002271361 RCV004018522

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

SNV
Germline

Chr21:43065481

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA113904

rs_121964973

14 SubmittersRCV000000155 RCV000195441 RCV000589097 RCV000576767 RCV002227962 RCV003914787 RCV004018523

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

SNV
Germline

Chr1:11800251

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA278050

rs_121434294

5 SubmittersRCV001813944 RCV001209716

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

Criteria Provided
Multiple Submitters
No Conflicts

CA278053

rs_121434295

6 SubmittersRCV001382824 RCV002476918 RCV003460410 RCV004719616

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

SNV
Germline

Chr1:11795158

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278055

rs_267606887

4 SubmittersRCV002225067

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

SNV
Germline

Chr1:11795114

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA278057

rs_267606886

3 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

8 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
Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Schizophrenia
Thrombophilia due to thrombin defect

Criteria Provided
Multiple Submitters
No Conflicts

CA278061

rs_121434297

5 SubmittersRCV002512718 RCV003466798 RCV005007812

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

SNV
Germline

Chr19:32862557

Pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA117721

rs_121908479

3 SubmittersRCV000006136

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

SNV
Germline

Chr19:32864261

Pathogenic/Likely pathogenic

Cystinuria
Condition: not provided
SLC7A9-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117723

rs_121908480

16 SubmittersRCV000006137 RCV000523825 RCV004752686

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

SNV
Germline

Chr19:32862521

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided
Inborn genetic diseases
SLC7A9-related disorder

Criteria Provided
Conflicting Classifications

CA211245

rs_79389353

20 SubmittersRCV000006138 RCV000480556 RCV004018572 RCV004752687

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

SNV
Germline

Chr19:32862482

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA117725

rs_121908482

2 SubmittersRCV000006139

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

SNV
Germline

Chr19:32859939

Likely pathogenic

Cystinuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117727

rs_121908483

3 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

8 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

2 SubmittersRCV000006144

NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)

SNV
Germline

Chr19:32862127

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA117735

rs_121908487

5 SubmittersRCV000006147 RCV002512820

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

14 SubmittersRCV000006149 RCV001390782

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

SNV
Germline

Chr2:44312653

Pathogenic/Likely pathogenic

Cystinuria
Condition: not provided
See cases
Inborn genetic diseases
SLC3A1-related disorder
Kidney disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA127830

rs_121912691

29 SubmittersRCV000019743 RCV000413736 RCV002251914 RCV004018645 RCV004754266 RCV005624699

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

SNV
Germline

Chr2:44312653

Pathogenic/Likely pathogenic

Cystinuria
Condition: not provided
SLC3A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA127831

rs_121912691

8 SubmittersRCV000019744 RCV001580112 RCV003415724

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

SNV
Germline

Chr2:44320614

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA127832

rs_121912693

2 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.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

5 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

CA390379573

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

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

Criteria Provided
Conflicting Classifications

CA144902

rs_397515486

7 SubmittersRCV000224484 RCV000057507 RCV000224133 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
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274154

rs_398123151

14 SubmittersRCV000078105 RCV000169310 RCV001280568 RCV002228199 RCV003905038

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

SNV
Germline

Chr21:43066259

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA220355

rs_148782895

5 SubmittersRCV000078109 RCV002228201 RCV001088690 RCV004700387 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
Methylmalonic acidemia with homocystinuria, type cblX
not specified
HCFC1-related disorder

Criteria Provided
Conflicting Classifications

CA231158

rs_201404751

8 SubmittersRCV000117215 RCV001520721 RCV000599889 RCV003952568

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

SNV
Germline

Chr21:43063091

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA289976

rs_201106576

6 SubmittersRCV000124151 RCV000287047 RCV002228268 RCV002227066 RCV003915241

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

SNV
Germline

Chr21:43053862

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Classic homocystinuria

Criteria Provided
Conflicting Classifications

CA289979

rs_200259659

5 SubmittersRCV000124158 RCV001698966 RCV001142671

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

3 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
Condition: not provided
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive
Schizophrenia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198643

rs_749765738

6 SubmittersRCV000167617 RCV001753577 RCV002492678 RCV003468815

NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe)

SNV
Germline

Chr1:11792304

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA198640

rs_786204028

3 SubmittersRCV000167616 RCV005603603

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
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
Multiple Submitters
No Conflicts

CA198633

rs_367585605

4 SubmittersRCV000167613 RCV003462250 RCV002498831

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

SNV
Germline

Chr1:11794443

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

Criteria Provided
Conflicting Classifications

CA198614

rs_543016186

6 SubmittersRCV000167606 RCV005396499 RCV004526623 RCV003468814

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.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
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198586

rs_574132670

8 SubmittersRCV000167596 RCV000993916 RCV005419880 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.202C>G (p.Arg68Gly)

SNV
Germline

Chr1:11802915

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA198565

rs_763539350

8 SubmittersRCV000167589 RCV003462246 RCV005008085

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_005957.5(MTHFR):c.136C>T (p.Arg46Trp)

SNV
Germline

Chr1:11802981

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA198556

rs_138189536

3 SubmittersRCV000167586 RCV005406874

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

SNV
Germline

Chr21:43058833

Pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274005

rs_763036586

5 SubmittersRCV000169171 RCV000480748 RCV002517626 RCV004689648

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

SNV
Germline

Chr21:43062311

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273978

rs_771298943

11 SubmittersRCV000197584 RCV000169132 RCV000780082 RCV002390401 RCV002228607

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

SNV
Germline

Chr21:43063958

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274140

rs_758236584

9 SubmittersRCV000169294 RCV000197988 RCV000790997 RCV002228778 RCV003128393 RCV000780084

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

SNV
Germline

Chr21:43066332

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274172

rs_770095972

6 SubmittersRCV000169322 RCV001192720 RCV002228611 RCV002453568

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

SNV
Germline

Chr21:43066348

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.302T>C (p.Leu101Pro)

SNV
Germline

Chr21:43068523

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274473

rs_786204757

5 SubmittersRCV000169617 RCV001251397 RCV002228615 RCV004754328

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

Criteria Provided
Conflicting Classifications

CA239275

rs_45449298

7 SubmittersRCV000173820 RCV000763727 RCV003947466 RCV001081882

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

SNV
Germline

Chr21:43062358

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239449

rs_777919630

6 SubmittersRCV000173977 RCV004601121 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
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA239721

rs_148589243

9 SubmittersRCV000474043 RCV000420634 RCV002517673 RCV002415740 RCV004800313

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

SNV
Germline

Chr21:43066320

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275291

rs_781444670

12 SubmittersRCV000178709 RCV000723426 RCV001804908 RCV002228790 RCV004821993

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
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA275440

rs_149119723

10 SubmittersRCV000180461 RCV000200469 RCV001251422 RCV002228800 RCV004821994

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

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

Criteria Provided
Conflicting Classifications

CA209474

rs_376049260

7 SubmittersRCV000638561 RCV000194960 RCV003947606 RCV001726038

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_005334.3(HCFC1):c.905-3C>T

SNV
Germline

ChrX:153960417

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA209887

rs_200367055

3 SubmittersRCV000195219 RCV001325203

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

SNV
Germline

Chr21:43056876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA320891

rs_143225442

8 SubmittersRCV000196475 RCV000471233 RCV002229438 RCV001726039 RCV002310757

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

SNV
Germline

Chr21:43058912

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA321746

rs_863223434

5 SubmittersRCV000197292 RCV000584030 RCV002517170 RCV003462306

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
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA320740

rs_769080151

7 SubmittersRCV000196320 RCV000763061 RCV001853130 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
Homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA320805

rs_372010465

9 SubmittersRCV000196393 RCV000410135 RCV002229026 RCV003401061 RCV002433873 RCV003895256

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

SNV
Germline

Chr21:43060481

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA324371

rs_117687681

22 SubmittersRCV000231839 RCV000514877 RCV002277461 RCV001526851 RCV002310759 RCV002517167 RCV003401060 RCV005621912 RCV005404373

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

CA320011

rs_745704046

7 SubmittersRCV000689266 RCV000781198 RCV002228831 RCV003221852

NM_000071.3(CBS):c.397G>A (p.Asp133Asn)

SNV
Germline

Chr21:43066297

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA322517

rs_539326697

8 SubmittersRCV000198043 RCV001271170 RCV002517162 RCV002277460 RCV005438358

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

SNV
Germline

Chr21:43066300

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA320193

rs_140002610

15 SubmittersRCV000460928 RCV001252179 RCV000726351 RCV003993881 RCV002315523 RCV002517995

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
CBS-related disorder
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA324303

rs_778220779

12 SubmittersRCV000199752 RCV000248928 RCV000535881 RCV000588375 RCV004754347 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
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA321707

rs_199948079

3 SubmittersRCV000409663 RCV002282028 RCV002229029

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

SNV
Germline

Chr21:43072048

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA325105

rs_148865119

12 SubmittersRCV000200523 RCV000410155 RCV002310761 RCV002229028

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
not specified
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA323483

rs_201372812

6 SubmittersRCV000198945 RCV001081627 RCV002381662 RCV004767135 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

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA16044132

rs_1057519361

2 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
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
Conflicting Classifications

CA16044133

rs_1057519360

5 SubmittersRCV000416816 RCV002503824 RCV003468969

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

5 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
not specified

Criteria Provided
Conflicting Classifications

CA10583888

rs_370514077

7 SubmittersRCV000328152 RCV001552886 RCV002229640 RCV002315676 RCV005437987

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

SNV
Germline

Chr21:43056883

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10587936

rs_747419767

5 SubmittersRCV003153545 RCV004021015 RCV000483442 RCV001299974

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

SNV
Germline

Chr21:43059288

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10587939

rs_149280976

6 SubmittersRCV000540125 RCV001722373 RCV002310893 RCV002229818

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

SNV
Germline

Chr21:43063942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10587943

rs_551782391

5 SubmittersRCV000320891 RCV001610766 RCV002311198 RCV003153547

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_000071.3(CBS):c.1208C>T (p.Thr403Met)

SNV
Germline

Chr21:43059241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10604053

rs_886042297

6 SubmittersRCV000372121 RCV002518836 RCV005532617 RCV003144192

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_000341.4(SLC3A1):c.1381T>C (p.Tyr461His)

SNV
Germline

Chr2:44312634

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

CA1640572

rs_144162964

6 SubmittersRCV000319754 RCV001048270

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

Criteria Provided
Conflicting Classifications

CA595534

rs_142612062

3 SubmittersRCV000320382 RCV001081108 RCV005396889

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.1409A>T (p.Glu470Val)

SNV
Germline

Chr1:11794028

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA595360

rs_142617551

5 SubmittersRCV003977821 RCV001086063 RCV005256507 RCV002494906

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

SNV
Germline

Chr1:11790890

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA595188

rs_115049252

7 SubmittersRCV001086227 RCV000733915 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
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA595581

rs_200100285

4 SubmittersRCV001894913 RCV002468946 RCV002506924 RCV004691452

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

3 SubmittersRCV000277152

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

SNV
Germline

Chr2:44286074

Pathogenic

Cystinuria
Autism spectrum disorder
Condition: not provided
SLC3A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1640281

rs_200483989

14 SubmittersRCV000332132 RCV003313951 RCV001723928 RCV004754396

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

6 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
Familial thoracic aortic aneurysm and aortic dissection
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA10644735

rs_539670390

6 SubmittersRCV000430115 RCV004021848 RCV000867368 RCV002230705 RCV003912431

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

5 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

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

Criteria Provided
Conflicting Classifications

CA10653006

rs_149809170

6 SubmittersRCV002231052 RCV003932361 RCV001698128 RCV002374585 RCV000862590

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

Classic homocystinuria

Criteria Provided
Single Submitter

CA16041996

rs_1057516645

2 SubmittersRCV000412412

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

SNV
Germline

Chr21:43062343

Pathogenic

Classic homocystinuria
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA16041997

rs_760417941

6 SubmittersRCV000409189 RCV001584104 RCV002230729

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

SNV
Germline

Chr21:43062391

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

No Assertion Criteria Provided

CA16042000

rs_746575551

1 SubmittersRCV000411137

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

SNV
Germline

Chr21:43065263

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042003

rs_763835246

7 SubmittersRCV000412334 RCV001527049 RCV003168587 RCV002230214

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

SNV
Germline

Chr21:43066252

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042005

rs_755952006

7 SubmittersRCV000411624 RCV001193389 RCV003314591 RCV002230731 RCV002328897

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

SNV
Germline

Chr21:43068508

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

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

4 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
ABCD4-related disorder

Criteria Provided
Conflicting Classifications

CA7266821

rs_45568335

7 SubmittersRCV000443723 RCV000763942 RCV004758013

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
Methylmalonic aciduria and homocystinuria, cb1L type

Criteria Provided
Single Submitter

CA396396088

rs_188675529

3 SubmittersRCV000498990 RCV002522728 RCV004719023

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

Criteria Provided
Conflicting Classifications

CA16616548

rs_112029370

6 SubmittersRCV000459701 RCV000497848 RCV001704553 RCV002525534 RCV002436393

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621012

rs_757920190

4 SubmittersRCV000482454 RCV003155205 RCV003464007 RCV003495133

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

SNV
Germline

ChrX:153952837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10556937

rs_781788935

3 SubmittersRCV000482310 RCV002526976 RCV000766506

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

Criteria Provided
Multiple Submitters
No Conflicts

CA321094214

rs_528689432

7 SubmittersRCV000507871 RCV005306050 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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA595335

rs_765586205

3 SubmittersRCV000546103 RCV003470753 RCV004592577

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

5 SubmittersRCV000538018 RCV004568822

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

SNV
Germline

Chr21:43066264

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA321097472

rs_121964966

7 SubmittersRCV000538588 RCV002330936 RCV002530067 RCV001755867 RCV003915591 RCV005407728

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

SNV
Germline

Chr21:43063020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA321091405

rs_562530775

7 SubmittersRCV000558244 RCV002377130 RCV002530068 RCV004791561

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

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Conflicting Classifications

CA410602047

rs_1347662650

4 SubmittersRCV002232085 RCV000557426

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

SNV
Germline

Chr21:43065653

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410601403

rs_1347651454

5 SubmittersRCV000587735 RCV002232223 RCV002315881 RCV002287426 RCV003459454

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

SNV
Germline

Chr21:43063003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA321091356

rs_779270933

4 SubmittersRCV001805199 RCV000723460 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
not specified

Criteria Provided
Conflicting Classifications

CA595582

rs_150847674

5 SubmittersRCV000595772 RCV001082026 RCV004701685

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

Criteria Provided
Conflicting Classifications

CA595764

rs_373076763

4 SubmittersRCV000594799 RCV002265818 RCV005004264

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

4 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
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321689824

rs_748552493

4 SubmittersRCV000648127 RCV002235258 RCV001311573 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

CA338475414

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
not specified

Criteria Provided
Conflicting Classifications

CA595435

rs_769953411

3 SubmittersRCV000661921 RCV002263926 RCV004689830

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

SNV
Unknown

Chr21:43058832

Likely pathogenic

Classic homocystinuria

No Assertion Criteria Provided

CA410396862

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
CBS-related disorder

Criteria Provided
Conflicting Classifications

CA321090579

rs_758447354

8 SubmittersRCV000665455 RCV000755891 RCV002233097 RCV003117465 RCV004754522

NM_000071.3(CBS):c.650C>T (p.Ser217Phe)

SNV
Germline

Chr21:43065403

Likely pathogenic

Classic homocystinuria
Homocystinuria

Criteria Provided
Single Submitter

CA410600786

rs_1555874874

2 SubmittersRCV000673555 RCV005407871

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

SNV
Germline

Chr21:43053985

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

CA410394984

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

CA321091505

rs_141502207

5 SubmittersRCV000671575 RCV002282314 RCV004026125

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

SNV
Unknown

Chr21:43063079

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410600194

rs_1555874263

2 SubmittersRCV000673689

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

SNV
Germline

Chr21:43053960

Pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

CA410394837

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
Single Submitter

CA410394975

rs_1555869979

2 SubmittersRCV000669704 RCV002232803

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

SNV
Germline

Chr21:43056802

Pathogenic/Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA410395508

rs_1434118781

3 SubmittersRCV000670219 RCV005091950

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

SNV
Germline

Chr21:43062951

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

CA410599926

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

CA321094209

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

CA410600363

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

CA410600619

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410601597

rs_1555875292

3 SubmittersRCV000668133 RCV001861765 RCV004792364

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

SNV
Germline

Chr21:43058254

Likely pathogenic

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Single Submitter

CA410396829

rs_865990681

2 SubmittersRCV000670285 RCV002232804

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

SNV
Unknown

Chr21:43071983

Likely pathogenic

Classic homocystinuria

No Assertion Criteria Provided

CA410602215

rs_1555876755

1 SubmittersRCV000670125

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

SNV
Germline

Chr2:44301085

Pathogenic/Likely pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA1640408

rs_567478582

3 SubmittersRCV000681750 RCV001067849

NM_014270.5(SLC7A9):c.325G>A (p.Ala109Thr)

SNV
Germline

Chr19:32864249

Likely pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Single Submitter

CA9358870

rs_750849536

2 SubmittersRCV000681929 RCV005027841

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

SNV
Germline

Chr19:32833195

Pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA307484383

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

Criteria Provided
Multiple Submitters
No Conflicts

CA595734

rs_754980119

6 SubmittersRCV000690846 RCV002477553 RCV002245591 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

CA595405

rs_200688214

3 SubmittersRCV000702419 RCV003313135

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

SNV
Germline

Chr2:44275967

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346686679

rs_1558450604

1 SubmittersRCV000688389

NM_005050.4(ABCD4):c.1752+2T>C

SNV
Germline

Chr14:74286699

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Conflicting Classifications

CA7266613

rs_151116417

2 SubmittersRCV000697468

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7266682

rs_767795583

4 SubmittersRCV000707417 RCV002265867 RCV005054255

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

CA10557061

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

CA410601405

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

CA595283

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

CA9358732

rs_140873167

6 SubmittersRCV000778542 RCV002536733

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

SNV
Germline

Chr21:43065621

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410601279

rs_762065361

4 SubmittersRCV000781199 RCV002234174 RCV001220158 RCV004754561

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

SNV
Germline

Chr21:43071984

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA321103728

rs_751464024

8 SubmittersRCV000780080 RCV003424337 RCV001558321 RCV001389140 RCV002234171

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

SNV
Germline

Chr1:11791260

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA595248

rs_140277700

9 SubmittersRCV000817838 RCV003461249 RCV001543555 RCV005012368

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338477231

rs_139645527

6 SubmittersRCV000791536 RCV003461066 RCV005092381

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

SNV
Germline

Chr1:11794765

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA595443

rs_750323424

5 SubmittersRCV000810485 RCV005054269 RCV003461196 RCV005012348

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

CA595487

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

CA1640749

rs_776729515

1 SubmittersRCV000798029

NM_014270.5(SLC7A9):c.511C>T (p.Arg171Trp)

SNV
Germline

Chr19:32862554

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

CA9358801

rs_758242098

4 SubmittersRCV000809411 RCV004761805

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

SNV
Germline

Chr21:43060460

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410397989

rs_1170128038

4 SubmittersRCV002234919 RCV002510583 RCV003886440

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

SNV
Germline

Chr21:43072126

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA321104075

rs_775785018

4 SubmittersRCV001538815 RCV002234321 RCV003166168 RCV000798452

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

CA10557170

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

CA410397610

rs_1601339216

2 SubmittersRCV002235005 RCV003485647

NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr)

SNV
Germline

Chr19:32843869

Conflicting classifications of pathogenicity

not specified
Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA307490283

rs_939028046

4 SubmittersRCV000825652 RCV005411585 RCV002538223

NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln)

SNV
Germline

Chr1:11794029

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA595361

rs_139645527

5 SubmittersRCV001085040 RCV003972965 RCV005256509 RCV005392605

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

SNV
Germline

Chr2:44275601

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640008

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1640276

rs_141587158

5 SubmittersRCV000963261 RCV003916118 RCV004792587

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

SNV
Germline

Chr2:44301117

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided
SLC3A1-related disorder

Criteria Provided
Conflicting Classifications

CA1640421

rs_143068960

4 SubmittersRCV000967785 RCV001354160 RCV004754655

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

SNV
Germline

Chr2:44312651

Conflicting classifications of pathogenicity

Cystinuria
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1640576

rs_140821819

5 SubmittersRCV000967670 RCV001729766 RCV001729765

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

CA1640079

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

CA1640163

rs_140317484

5 SubmittersRCV000880749 RCV001357966

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

SNV
Germline

Chr2:44301116

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640420

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

CA1640594

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

CA1640791

rs_150557210

2 SubmittersRCV001140994

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

SNV
Germline

Chr19:32859885

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358619

rs_147344717

4 SubmittersRCV001128455 RCV000904705

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

CA1640724

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

CA1640788

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

Criteria Provided
Conflicting Classifications

CA595578

rs_748571395

7 SubmittersRCV000985005 RCV003461295 RCV005012406

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

CA17975236

rs_776969786

4 SubmittersRCV000986238 RCV001236475

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

SNV
Germline

Chr2:44301075

Conflicting classifications of pathogenicity

Cystinuria
Cystine urolithiasis
SLC3A1-related disorder

Criteria Provided
Conflicting Classifications

CA1640404

rs_375399468

4 SubmittersRCV001140890 RCV000991104 RCV003918618

NM_000341.4(SLC3A1):c.1113C>A (p.Tyr371Ter)

SNV
Germline

Chr2:44301104

Pathogenic

Cystine urolithiasis
Cystinuria

Criteria Provided
Single Submitter

CA1640415

rs_768467260

3 SubmittersRCV000991110 RCV004761853

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

SNV
Germline

Chr2:44320221

Pathogenic/Likely pathogenic

Cystine urolithiasis
Cystinuria
SLC3A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1640722

rs_368796166

4 SubmittersRCV000991124 RCV001313669 RCV004754669

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

SNV
Germline

Chr2:44320592

Pathogenic

Cystine urolithiasis
Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA346687521

rs_1361526419

4 SubmittersRCV000991105 RCV001238859

NM_014270.5(SLC7A9):c.151T>C (p.Ser51Pro)

SNV
Germline

Chr19:32864713

Pathogenic/Likely pathogenic

Cystine urolithiasis
Cystinuria

No Assertion Criteria Provided

CA405204531

rs_1599688589

2 SubmittersRCV000991120 RCV004761854

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

SNV
Germline

Chr2:44304340

Pathogenic

Cystine urolithiasis
Cystinuria

Criteria Provided
Single Submitter

CA1640520

rs_758627758

3 SubmittersRCV000991122 RCV003141911

NM_014270.5(SLC7A9):c.1399+5G>C

SNV
Germline

Chr19:32833144

Likely pathogenic

Cystine urolithiasis
Cystinuria

Criteria Provided
Single Submitter

CA506665133

rs_1599648136

3 SubmittersRCV000991107 RCV004761852

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

SNV
Germline

Chr21:43059297

Pathogenic

Classic homocystinuria
Homocystinuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410397847

rs_1304669003

3 SubmittersRCV001004615 RCV003994188 RCV001540545

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

CA410396812

rs_1981524462

2 SubmittersRCV002240613 RCV004570272

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

SNV
Germline

Chr21:43062953

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA321091258

rs_776122644

3 SubmittersRCV001046424 RCV002552594 RCV003311934

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

SNV
Germline

Chr21:43066243

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA321097418

rs_373782713

7 SubmittersRCV001070719 RCV002240636 RCV002339345 RCV001585975 RCV001264436 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

CA10557183

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

CA338422779

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

CA615018864

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415122800

rs_1273500868

3 SubmittersRCV001093007 RCV002557966 RCV005572460

NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys)

SNV
Germline

Chr1:11793920

Conflicting classifications of pathogenicity

Global developmental delay
Lower limb spasticity
Mental deterioration
Bilateral tonic-clonic seizure
Delayed speech and language development
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA595338

rs_764650203

3 SubmittersRCV001261545 RCV003132225

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

CA9358386

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

CA9358394

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

CA9358568

rs_61730903

4 SubmittersRCV001128454 RCV001513236

NM_014270.5(SLC7A9):c.639C>T (p.Gly213=)

SNV
Germline

Chr19:32862183

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358737

rs_763216072

2 SubmittersRCV001122758 RCV005093558

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

CA9358845

rs_752881588

5 SubmittersRCV001123845 RCV001222095

NM_014270.5(SLC7A9):c.369G>A (p.Thr123=)

SNV
Germline

Chr19:32864205

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9358859

rs_144880180

2 SubmittersRCV001123846 RCV005093567

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

CA9358928

rs_771205937

4 SubmittersRCV001126491 RCV002556754 RCV004032269

NM_000341.4(SLC3A1):c.201G>T (p.Gly67=)

SNV
Germline

Chr2:44275736

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640050

rs_771021431

2 SubmittersRCV001140778

NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His)

SNV
Germline

Chr2:44312620

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640568

rs_373852467

3 SubmittersRCV001137998

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

SNV
Germline

Chr2:44320407

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640768

rs_200592320

3 SubmittersRCV001140991

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

SNV
Germline

Chr21:43062333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA321090515

rs_773933333

3 SubmittersRCV001140938 RCV003898137 RCV002240655

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

CA1139666881

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

CA410600617

rs_1464223176

4 SubmittersRCV001175076 RCV001833732 RCV003495233

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

SNV
Germline

Chr21:43065255

Pathogenic

Homocystinuria
Classic homocystinuria

Criteria Provided
Single Submitter

CA410600615

rs_1464223176

2 SubmittersRCV001193391 RCV005606774

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

CA7266864

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
Homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Classic homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA410601680

rs_370167302

4 SubmittersRCV001732080 RCV004768939 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

CA1640202

rs_369641941

6 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

CA9358773

rs_763110287

4 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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415112225

rs_1252960661

3 SubmittersRCV001231378 RCV005411685 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

CA415104415

rs_1342469676

2 SubmittersRCV001248497 RCV001814290

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

SNV
Germline

Chr19:32833151

Pathogenic/Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA405196688

rs_1967855547

2 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

CA595139

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

Criteria Provided
Conflicting Classifications

CA595494

rs_371085894

7 SubmittersRCV001252318 RCV001786456 RCV003469485 RCV005012694 RCV005420385

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

CA595658

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

CA390376084

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

CA390377152

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

CA338474408

rs_1434449406

3 SubmittersRCV001257010 RCV003462838 RCV003770337

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

SNV
Germline

Chr2:44304236

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346682756

rs_1672093819

1 SubmittersRCV001257094

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

SNV
Unknown

Chr21:43062966

Pathogenic

Classic homocystinuria

No Assertion Criteria Provided

CA410599956

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

CA338422139

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

CA410397661

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

CA410600498

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

CA410600840

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

CA410601265

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

CA410601677

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

CA10557615

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
not specified

Criteria Provided
Conflicting Classifications

CA10557621

rs_782354655

4 SubmittersRCV001265667 RCV001880094 RCV002261329 RCV005437051

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

CA18001313

rs_977038830

5 SubmittersRCV001377364 RCV003469502

NM_005957.5(MTHFR):c.602A>C (p.His201Pro)

SNV
Germline

Chr1:11796384

Likely pathogenic

Generalized cerebral atrophy/hypoplasia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

CA338481072

rs_1644256586

2 SubmittersRCV001281375 RCV005606799

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

SNV
Germline

Chr1:11801177

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA595667

rs_767890671

8 SubmittersRCV001290317 RCV005367813 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

CA338474262

rs_1314085200

1 SubmittersRCV001386292

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

SNV
Germline

Chr1:11794724

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA521455042

rs_1483632178

3 SubmittersRCV003462865 RCV001300805

NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)

SNV
Germline

Chr2:44320377

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640762

rs_146963107

2 SubmittersRCV001298344

NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)

SNV
Germline

ChrX:153952769

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10556922

rs_782310209

3 SubmittersRCV001327000 RCV005572548 RCV004597984

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

CA10556947

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

CA410601870

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

CA595628

rs_760161369

3 SubmittersRCV001353257 RCV004570861

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

SNV
Germline

Chr21:43062343

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410599798

rs_760417941

3 SubmittersRCV001361230 RCV002420789 RCV003154014

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

SNV
Germline

Chr2:44299995

Pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA1640333

rs_768222969

2 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

CA338474248

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA17974656

rs_199476142

4 SubmittersRCV001377365 RCV003462950 RCV005005224

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

SNV
Germline

Chr21:43063038

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA321091497

rs_760912339

4 SubmittersRCV002242773 RCV005237766 RCV004570927 RCV003883622

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

CA595726

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

CA1640407

rs_765828196

4 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

CA410396749

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

CA410602097

rs_2146413970

2 SubmittersRCV002242808 RCV003462980

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

SNV
Germline

Chr1:11794389

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA18000968

rs_545086633

6 SubmittersRCV003463041 RCV001420163 RCV004796633

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

SNV
Germline

Chr21:43063975

Conflicting classifications of pathogenicity

Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Criteria Provided
Conflicting Classifications

CA2499225927

rs_2146375662

2 SubmittersRCV001455036 RCV002240270

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

CA9358539

rs_45628833

5 SubmittersRCV001513121 RCV002488321 RCV003948508

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

SNV
Unknown

Chr19:32864639

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA9358915

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

CA9358922

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

CA410600125

rs_141502207

1 SubmittersRCV001553570

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

SNV
Germline

Chr19:32864744

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

CA9358941

rs_140179068

6 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

CA1640267

rs_201376169

2 SubmittersRCV001761809 RCV003237461

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

SNV
Unknown

Chr19:32830686

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA405196055

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

CA338478566

rs_1476689323

1 SubmittersRCV001782466

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

SNV
Germline

Chr2:44300090

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA1640355

rs_772810111

2 SubmittersRCV003506537

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

SNV
Germline

Chr19:32833242

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA307484393

rs_988712826

1 SubmittersRCV001783776

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

SNV
Germline

Chr21:43065273

Pathogenic

Classic homocystinuria

No Assertion Criteria Provided

CA410600687

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

CA338473938

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

CA17974700

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

CA519697051

rs_2065298662

2 SubmittersRCV001817492 RCV002077287

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

SNV
Germline

Chr21:43062310

Pathogenic

Homocystinuria

Criteria Provided
Single Submitter

CA410599729

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

CA595689

rs_147257424

1 SubmittersRCV001838859

NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys)

SNV
Germline

Chr14:74297932

Pathogenic/Likely pathogenic

Cobalamin C disease
Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Multiple Submitters
No Conflicts

CA7267230

rs_776529140

2 SubmittersRCV001844616 RCV005095315

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

CA10557085

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

CA1640763

rs_141944551

5 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

CA415122743

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

CA595453

rs_779993607

2 SubmittersRCV001999864 RCV004571709

NM_000071.3(CBS):c.473C>T (p.Ala158Val)

SNV
Germline

Chr21:43065674

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410601473

rs_1376851289

3 SubmittersRCV002024992 RCV004770339 RCV005238137

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

SNV
Germline

Chr2:44286159

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346690346

rs_2104342335

1 SubmittersRCV001999110

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

SNV
Germline

Chr2:44312619

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346684324

rs_139251285

1 SubmittersRCV001961514

NM_014270.5(SLC7A9):c.376G>A (p.Ala126Thr)

SNV
Germline

Chr19:32864198

Pathogenic/Likely pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA9358857

rs_372306844

2 SubmittersRCV001937378 RCV005023319

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

SNV
Germline

Chr1:11794443

Pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338478615

rs_200137991

2 SubmittersRCV001953816 RCV005253980

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

CA338422151

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

CA410602207

rs_2146414477

2 SubmittersRCV002017343 RCV003464378

NM_014270.5(SLC7A9):c.604+1G>A

SNV
Germline

Chr19:32862460

Pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Single Submitter

CA405202706

rs_1968829014

2 SubmittersRCV001927821 RCV004762237

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

SNV
Germline

Chr2:44300093

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA769126885

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

CA338423012

rs_767789270

1 SubmittersRCV001939988

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

SNV
Germline

Chr2:44281414

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA46490957

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

CA595640

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

CA338422198

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

CA1640409

rs_567478582

3 SubmittersRCV001956176

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

SNV
Germline

Chr2:44313926

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346684954

rs_2104385536

1 SubmittersRCV001972524

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

SNV
Germline

Chr2:44281446

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA1640208

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

CA338422143

rs_2100562061

1 SubmittersRCV002035641

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

SNV
Germline

Chr1:11800275

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA338422026

rs_1182635980

3 SubmittersRCV003471099 RCV001985134

NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp)

SNV
Germline

Chr1:11801167

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Conflicting Classifications

CA595662

rs_776195746

2 SubmittersRCV001980512

NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly)

SNV
Germline

ChrX:153954944

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415123886

rs_868914963

2 SubmittersRCV002164478 RCV005350921

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

SNV
Germline

Chr21:43060505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA321689765

rs_745764562

5 SubmittersRCV002244591 RCV003226536 RCV002427733 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

CA338474622

rs_2100499494

1 SubmittersRCV002247150

NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)

SNV
Germline

Chr14:74290323

Likely pathogenic

Cobalamin C disease
Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Multiple Submitters
No Conflicts

CA7266871

rs_745414252

2 SubmittersRCV002271817 RCV005008502

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

CA1022642348

rs_1388184910

2 SubmittersRCV002272703 RCV003096132

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

SNV
Germline

Chr21:43063944

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410600302

rs_2517436753

3 SubmittersRCV002293059 RCV004572125 RCV003101691

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

SNV
Unknown

Chr21:43060511

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410398170

rs_2517412566

1 SubmittersRCV002309720

NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg)

SNV
Germline

Chr19:32864647

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria
SLC7A9-related disorder

Criteria Provided
Conflicting Classifications

CA307510692

rs_138156402

3 SubmittersRCV003064572 RCV005028143 RCV003418723

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

CA338423386

rs_1644429362

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

CA595390

rs_774694621

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

CA321091261

rs_775432669

4 SubmittersRCV003075119 RCV003234597

NM_005957.5(MTHFR):c.1531-12T>A

SNV
Germline

Chr1:11792391

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA595305

rs_747182653

2 SubmittersRCV003092604 RCV004775293

NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)

SNV
Germline

ChrX:153952153

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA337250889

rs_909217502

2 SubmittersRCV002599359 RCV005353109

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

CA338480524

rs_1644230120

2 SubmittersRCV002588344 RCV003459753

NM_005957.5(MTHFR):c.395G>A (p.Arg132His)

SNV
Germline

Chr1:11801241

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA595677

rs_149514973

2 SubmittersRCV002611796 RCV003404109

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

SNV
Germline

Chr2:44275801

Pathogenic/Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA346686329

rs_1453871309

2 SubmittersRCV002612511

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

SNV
Germline

Chr1:11791244

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA595245

rs_144508139

2 SubmittersRCV002630048 RCV005425067

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

CA338477549

rs_2522857846

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

CA410602098

rs_2146413970

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

CA338480134

rs_375254845

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

CA338423387

rs_1644429362

1 SubmittersRCV002720888

NM_014270.5(SLC7A9):c.1304G>A (p.Trp435Ter)

SNV
Germline

Chr19:32833244

Pathogenic/Likely pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA9358437

rs_753324280

2 SubmittersRCV002741350 RCV005027935

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

SNV
Germline

Chr2:44301128

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346681481

rs_1461067691

1 SubmittersRCV002755885

NM_005957.5(MTHFR):c.1418G>A (p.Arg473Gln)

SNV
Germline

Chr1:11794019

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA595357

rs_144594875

2 SubmittersRCV002890818 RCV004790269

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

CA10557253

rs_782636507

2 SubmittersRCV002922791

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

SNV
Germline

Chr1:11795126

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA595489

rs_748289202

4 SubmittersRCV002933069 RCV004801255 RCV003465867

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

SNV
Germline

Chr2:44301129

Pathogenic/Likely pathogenic

Cystinuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1640427

rs_766198611

5 SubmittersRCV002923352 RCV005620456

NM_014270.5(SLC7A9):c.1445C>T (p.Pro482Leu)

SNV
Germline

Chr19:32830639

Pathogenic

Condition: not provided
Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA9358388

rs_146815072

2 SubmittersRCV002938899 RCV005028045

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

CA10556733

rs_781904041

2 SubmittersRCV003002280 RCV003002279

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

SNV
Germline

Chr1:11793906

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA18000623

rs_928393582

2 SubmittersRCV003026952 RCV003465902

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

CA338474523

rs_2522818191

1 SubmittersRCV003048912

NM_005957.5(MTHFR):c.476-2A>C

SNV
Germline

Chr1:11800324

Likely pathogenic

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

CA338422146

rs_2522943706

2 SubmittersRCV003126324 RCV005608927

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

SNV
Germline

Chr19:32864658

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA405204286

rs_2513609886

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

Criteria Provided
Conflicting Classifications

CA595285

rs_773360881

3 SubmittersRCV003132696 RCV003459784 RCV005011238

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

SNV
Germline

ChrX:153955139

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10557222

rs_782325371

3 SubmittersRCV003131101 RCV004634223

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

SNV
Germline

Chr2:44286161

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA2580066535

rs_2465902056

1 SubmittersRCV003134071

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

SNV
Germline

Chr19:32842182

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA405197793

rs_766981518

1 SubmittersRCV003131530

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

SNV
Germline

Chr21:43062397

Likely pathogenic

Homocystinuria

Criteria Provided
Single Submitter

CA410599924

rs_2517425362

1 SubmittersRCV003155600

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

SNV
Germline

Chr2:44280721

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346688012

rs_1249821286

1 SubmittersRCV003156163

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

SNV
Germline

Chr2:44304326

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346683161

rs_2465949850

2 SubmittersRCV003156164

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

SNV
Germline

Chr21:43063961

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410600333

rs_1157774154

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

CA10557127

rs_374515131

2 SubmittersRCV003317878 RCV003638937

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

SNV
Germline

Chr2:44275777

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640058

rs_201617723

2 SubmittersRCV003332928

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

SNV
Germline

Chr2:44304194

Pathogenic/Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA346682528

rs_374750983

2 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

CA10557134

rs_374683078

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

CA2695197967

rs_2522885017

2 SubmittersRCV003389932

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

SNV
Germline

Chr21:43058886

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410397097

rs_1354271840

3 SubmittersRCV003404293 RCV005061393 RCV004572969

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

SNV
Germline

ChrX:153951988

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
HCFC1-related disorder

Criteria Provided
Conflicting Classifications

CA10556864

rs_373226992

2 SubmittersRCV003638953 RCV003419150

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

CA519702216

rs_2521554733

2 SubmittersRCV003418775 RCV003638951

NM_014270.5(SLC7A9):c.230C>T (p.Thr77Met)

SNV
Germline

Chr19:32864634

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

CA9358910

rs_375205018

2 SubmittersRCV003415182 RCV005030029

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

CA10556929

rs_781955447

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

CA415118394

rs_1569546724

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

CA595286

rs_760886915

3 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

CA18000899

rs_911127028

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

CA338422778

rs_1644381879

2 SubmittersRCV003470266 RCV003523193

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

SNV
Unknown

Chr21:43065250

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410600601

rs_1411597530

1 SubmittersRCV003460335

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

SNV
Unknown

Chr21:43058832

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410396864

rs_866630296

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

CA410600450

rs_2517442518

2 SubmittersRCV003460337 RCV003495344

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

SNV
Unknown

Chr21:43062994

Pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410600017

rs_1178687976

1 SubmittersRCV003460338

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

SNV
Unknown

Chr21:43062309

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410599726

rs_2517424159

1 SubmittersRCV003460339

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

SNV
Germline

Chr21:43066287

Pathogenic/Likely pathogenic

Classic homocystinuria
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA321097579

rs_775937459

2 SubmittersRCV003460340 RCV005062970

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

SNV
Unknown

Chr21:43058156

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410396598

rs_2517394724

1 SubmittersRCV003460342

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

SNV
Unknown

Chr21:43071984

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410602217

rs_751464024

1 SubmittersRCV003460343

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

SNV
Unknown

Chr21:43058255

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410396830

rs_2517395819

1 SubmittersRCV003460344

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

SNV
Unknown

Chr21:43058933

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410397342

rs_2517399972

1 SubmittersRCV003460345

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

SNV
Unknown

Chr21:43058874

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410397041

rs_1449634173

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

CA410600070

rs_1298089659

2 SubmittersRCV003460351 RCV003779148

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

SNV
Unknown

Chr21:43065245

Pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410600584

rs_1982504069

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

CA410397929

rs_2517411603

2 SubmittersRCV003460353 RCV003598178

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

SNV
Unknown

Chr21:43060548

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410398297

rs_2517413127

1 SubmittersRCV003460355

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

SNV
Unknown

Chr21:43063932

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410600280

rs_2517436554

1 SubmittersRCV003460356

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

SNV
Germline

Chr21:43062314

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410599740

rs_2517424268

1 SubmittersRCV003448861

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

SNV
Unknown

Chr19:32862577

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA405202939

rs_748402420

1 SubmittersRCV003455848

NM_005957.5(MTHFR):c.1011G>T (p.Gly337=)

SNV
Germline

Chr1:11795118

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

rs_755483936

1 SubmittersRCV004577963

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

CA10557573

rs_782309363

2 SubmittersRCV003486110

NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)

SNV
Germline

ChrX:153954182

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
not specified

Criteria Provided
Conflicting Classifications

CA10557051

rs_782239008

3 SubmittersRCV003523885 RCV005419642

NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)

SNV
Germline

ChrX:153958240

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
not specified

Criteria Provided
Conflicting Classifications

CA415134464

rs_1557115716

2 SubmittersRCV003522184 RCV005240801

NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)

SNV
Germline

ChrX:153954710

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10557155

rs_782575778

2 SubmittersRCV003522420 RCV004634282

NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)

SNV
Germline

ChrX:153955539

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
not specified

Criteria Provided
Conflicting Classifications

CA10557261

rs_782075466

2 SubmittersRCV003525179 RCV004783076

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

SNV
Germline

Chr14:74287840

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

CA7266676

rs_769298254

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

CA390379493

rs_1408519111

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

CA338480534

rs_786204020

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

CA338422772

rs_2522961067

1 SubmittersRCV003525254

NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)

SNV
Germline

Chr2:44275953

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA1640109

rs_768848958

2 SubmittersRCV003506533

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

SNV
Germline

Chr2:44280737

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA1640137

rs_778354350

1 SubmittersRCV003506534

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

SNV
Germline

Chr2:44281541

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346689364

rs_2466682288

1 SubmittersRCV003506536

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

SNV
Germline

Chr2:44320221

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346686735

rs_368796166

1 SubmittersRCV003506538

NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)

SNV
Germline

Chr2:44320526

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

CA346687379

rs_1484579709

2 SubmittersRCV003506542

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

SNV
Germline

Chr2:44320556

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346687445

rs_1324540640

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

CA338479924

rs_2522876133

1 SubmittersRCV003523641

NM_000071.3(CBS):c.456C>G (p.Ile152Met)

SNV
Germline

Chr21:43065691

Pathogenic

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocystinuria

Criteria Provided
Multiple Submitters
No Conflicts

CA410601527

rs_769438280

2 SubmittersRCV003494765 RCV005240833

NM_014270.5(SLC7A9):c.546G>A (p.Ala182=)

SNV
Germline

Chr19:32862519

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

CA9358789

rs_75036167

2 SubmittersRCV003562765 RCV005030122

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

CA338475453

rs_2522835468

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

CA595526

rs_147750177

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

CA338479378

rs_1644212098

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

CA390379655

rs_2505238680

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

CA338476579

rs_928393582

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

CA338478085

rs_2100523280

1 SubmittersRCV003638062

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

SNV
Germline

Chr2:44281396

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

CA346689032

rs_2466681808

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

CA338479848

rs_2522875756

1 SubmittersRCV003635548

NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)

SNV
Germline

ChrX:153954749

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10557159

rs_782252923

2 SubmittersRCV003638367 RCV005575211

NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)

SNV
Germline

ChrX:153955058

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10557204

rs_373753660

2 SubmittersRCV003638435 RCV004790596

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

CA338480540

rs_2522894898

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

CA338479140

rs_1570473609

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

CA337256529

rs_997841591

2 SubmittersRCV003639256 RCV004374311

NM_014270.5(SLC7A9):c.749+16G>A

SNV
Germline

Chr19:32860590

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA307505959

rs_368278789

2 SubmittersRCV005030257 RCV003737769

NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)

SNV
Germline

ChrX:153951640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10556812

rs_372299853

3 SubmittersRCV003826113 RCV004790629 RCV004366789

NM_014270.5(SLC7A9):c.217G>C (p.Gly73Arg)

SNV
Germline

Chr19:32864647

Conflicting classifications of pathogenicity

Condition: not provided
Cystinuria

Criteria Provided
Conflicting Classifications

CA9358918

rs_138156402

2 SubmittersRCV003858603 RCV005030326

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

SNV
Germline

Chr14:74296421

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

CA390377988

rs_1282760239

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

CA415103129

rs_2521446197

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

CA338475008

rs_776430173

1 SubmittersRCV004515786

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

SNV
Germline

Chr21:43058835

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410396871

rs_886057099

1 SubmittersRCV003989272

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

SNV
Germline

Chr21:43068617

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410602210

rs_2517470463

1 SubmittersRCV004018179

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

SNV
Germline

Chr21:43065697

Pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410601550

rs_2517448132

1 SubmittersRCV004018180

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

SNV
Germline

Chr21:43063074

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410600182

rs_5742905

1 SubmittersRCV004018181

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

SNV
Germline

Chr21:43062397

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410599925

rs_2517425362

1 SubmittersRCV004018182

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

SNV
Germline

Chr21:43062309

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410599728

rs_2517424159

1 SubmittersRCV004018213

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

SNV
Germline

Chr21:43062397

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

CA410599923

rs_2517425362

1 SubmittersRCV004018214

NM_000341.4(SLC3A1):c.148G>A (p.Gly50Ser)

SNV
Germline

Chr2:44275683

Conflicting classifications of pathogenicity

Inborn genetic diseases
Cystinuria

Criteria Provided
Conflicting Classifications

CA346686027

rs_1408497251

2 SubmittersRCV004461609 RCV005023535

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

SNV
Unknown

Chr2:44280788

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

rs_200001778

1 SubmittersRCV004557283

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

SNV
Unknown

Chr21:43063079

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_1555874263

1 SubmittersRCV004575494

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

SNV
Unknown

Chr21:43063024

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_562885611

1 SubmittersRCV004575495

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

SNV
Unknown

Chr21:43058963

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_2517400347

1 SubmittersRCV004575496

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

SNV
Unknown

Chr21:43062310

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

rs_2146362992

1 SubmittersRCV004575497

NM_000341.4(SLC3A1):c.611-1G>A

SNV
Germline

Chr2:44281386

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004699110

NM_000341.4(SLC3A1):c.809G>T (p.Arg270Leu)

SNV
Germline

Chr2:44286075

Likely pathogenic

Cystinuria
SLC3A1-related disorder

Criteria Provided
Single Submitter

2 SubmittersRCV005023675 RCV004755346

NM_000341.4(SLC3A1):c.1855A>T (p.Arg619Ter)

SNV
Germline

Chr2:44320436

Pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759691

NM_000341.4(SLC3A1):c.647C>A (p.Thr216Lys)

SNV
Germline

Chr2:44281423

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759692

NM_000341.4(SLC3A1):c.928G>A (p.Gly310Ser)

SNV
Germline

Chr2:44300007

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

2 SubmittersRCV004759693

NM_000341.4(SLC3A1):c.1091T>C (p.Phe364Ser)

SNV
Germline

Chr2:44301082

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759694

NM_000341.4(SLC3A1):c.430+1G>A

SNV
Germline

Chr2:44275966

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

2 SubmittersRCV004759695

NM_000341.4(SLC3A1):c.2017T>G (p.Cys673Gly)

SNV
Germline

Chr2:44320598

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759696

NM_000341.4(SLC3A1):c.1373G>T (p.Gly458Val)

SNV
Germline

Chr2:44312626

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759697

NM_000341.4(SLC3A1):c.1158T>A (p.Tyr386Ter)

SNV
Germline

Chr2:44304164

Pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759698

NM_000341.4(SLC3A1):c.1401G>C (p.Met467Ile)

SNV
Germline

Chr2:44312654

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759700

NM_014270.5(SLC7A9):c.227C>T (p.Ala76Val)

SNV
Germline

Chr19:32864637

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759705

NM_014270.5(SLC7A9):c.133G>C (p.Gly45Arg)

SNV
Germline

Chr19:32864731

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759706

NM_014270.5(SLC7A9):c.766A>G (p.Ile256Val)

SNV
Germline

Chr19:32859948

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759707

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

SNV
Germline

Chr19:32843850

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759708

NM_014270.5(SLC7A9):c.998G>A (p.Arg333Gln)

SNV
Germline

Chr19:32843931

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759709

NM_014270.5(SLC7A9):c.422A>C (p.Tyr141Ser)

SNV
Germline

Chr19:32864152

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759710

NM_014270.5(SLC7A9):c.1340G>A (p.Gly447Asp)

SNV
Germline

Chr19:32833208

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759711

NM_014270.5(SLC7A9):c.1399+1G>C

SNV
Germline

Chr19:32833148

Pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759712

NM_014270.5(SLC7A9):c.409T>C (p.Cys137Arg)

SNV
Germline

Chr19:32864165

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759713

NM_014270.5(SLC7A9):c.1399+2T>C

SNV
Germline

Chr19:32833147

Pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759715

NM_000341.4(SLC3A1):c.850G>T (p.Asp284Tyr)

SNV
Germline

Chr2:44286116

Pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759738

NM_000341.4(SLC3A1):c.1904C>A (p.Thr635Lys)

SNV
Germline

Chr2:44320485

Pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759739

NM_000341.4(SLC3A1):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr2:44275698

Pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759740

NM_000341.4(SLC3A1):c.1617+5G>T

SNV
Germline

Chr2:44313956

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759742

NM_000341.4(SLC3A1):c.907T>C (p.Trp303Arg)

SNV
Germline

Chr2:44299986

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759743

NM_000341.4(SLC3A1):c.1432A>C (p.Thr478Pro)

SNV
Germline

Chr2:44312685

Likely pathogenic

Cystinuria

No Assertion Criteria Provided

1 SubmittersRCV004759745

NM_000341.4(SLC3A1):c.283G>A (p.Ala95Thr)

SNV
Germline

Chr2:44275818

Conflicting classifications of pathogenicity

Cystinuria

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004759747

NM_000341.4(SLC3A1):c.1364C>T (p.Ser455Leu)

SNV
Germline

Chr2:44312617

Pathogenic/Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004759748

NM_014270.5(SLC7A9):c.749G>A (p.Arg250Lys)

SNV
Germline

Chr19:32860606

Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788406

NM_014270.5(SLC7A9):c.584G>A (p.Gly195Glu)

SNV
Germline

Chr19:32862481

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004789969

NM_000341.4(SLC3A1):c.1190A>G (p.Tyr397Cys)

SNV
Germline

Chr2:44304196

Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004785928

NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)

SNV
Germline

Chr1:11794008

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795439

NM_000341.4(SLC3A1):c.1134C>G (p.Tyr378Ter)

SNV
Germline

Chr2:44301125

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV004821183

NM_014270.5(SLC7A9):c.1225-1G>T

SNV
Germline

Chr19:32833324

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005028417

NM_014270.5(SLC7A9):c.1075-1G>A

SNV
Germline

Chr19:32842318

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005028422

NM_014270.5(SLC7A9):c.1032C>T (p.Ile344=)

SNV
Germline

Chr19:32843897

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005028426

NM_014270.5(SLC7A9):c.794C>T (p.Ala265Val)

SNV
Germline

Chr19:32859920

Conflicting classifications of pathogenicity

Cystinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005028433 RCV005112703

NM_014270.5(SLC7A9):c.479-1G>A

SNV
Germline

Chr19:32862587

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005028446

NM_014270.5(SLC7A9):c.478+1G>A

SNV
Germline

Chr19:32864095

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005028448

NM_014270.5(SLC7A9):c.1A>G (p.Met1Val)

SNV
Germline

Chr19:32868534

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005028466

NM_005050.4(ABCD4):c.1237G>T (p.Glu413Ter)

SNV
Germline

Chr14:74290381

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005007279

NM_005050.4(ABCD4):c.1118+1G>T

SNV
Germline

Chr14:74292286

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005007280

NM_005050.4(ABCD4):c.936+1G>A

SNV
Germline

Chr14:74292747

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005007281

NM_005050.4(ABCD4):c.669-1G>A

SNV
Germline

Chr14:74295199

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005007284

NM_005050.4(ABCD4):c.669-2A>G

SNV
Germline

Chr14:74295200

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005007285

NM_005050.4(ABCD4):c.528C>A (p.Tyr176Ter)

SNV
Germline

Chr14:74296347

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005007287

NM_005050.4(ABCD4):c.426-1G>A

SNV
Germline

Chr14:74296450

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005007288

NM_005050.4(ABCD4):c.285+1G>T

SNV
Germline

Chr14:74299547

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005007289

NM_005957.5(MTHFR):c.727T>G (p.Cys243Gly)

SNV
Germline

Chr1:11796259

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005006913

NM_000341.4(SLC3A1):c.665G>A (p.Trp222Ter)

SNV
Germline

Chr2:44281441

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005026557

NM_000341.4(SLC3A1):c.765+1G>T

SNV
Germline

Chr2:44281542

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005026560

NM_000341.4(SLC3A1):c.909G>A (p.Trp303Ter)

SNV
Germline

Chr2:44299988

Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005026565

NM_000341.4(SLC3A1):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr2:44301051

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005038955

NM_000341.4(SLC3A1):c.1094G>C (p.Arg365Pro)

SNV
Germline

Chr2:44301085

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005038958

NM_000341.4(SLC3A1):c.1366C>T (p.Arg456Cys)

SNV
Germline

Chr2:44312619

Pathogenic/Likely pathogenic

Cystinuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005026586

NM_000341.4(SLC3A1):c.1437C>G (p.Tyr479Ter)

SNV
Germline

Chr2:44312690

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005026587

NM_000341.4(SLC3A1):c.1447G>T (p.Glu483Ter)

SNV
Germline

Chr2:44312700

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005038964

NM_000341.4(SLC3A1):c.1617+1G>A

SNV
Germline

Chr2:44313952

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005026591

NM_000341.4(SLC3A1):c.1617+5G>A

SNV
Germline

Chr2:44313956

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005026593

NM_000341.4(SLC3A1):c.1993A>T (p.Arg665Ter)

SNV
Germline

Chr2:44320574

Likely pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005026610

NM_000071.3(CBS):c.1063G>C (p.Ala355Pro)

SNV
Germline

Chr21:43060523

Likely pathogenic

Homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005431410

NM_005050.4(ABCD4):c.1118+2T>A

SNV
Germline

Chr14:74292285

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005078549

NM_005957.5(MTHFR):c.1633-1G>C

SNV
Germline

Chr1:11791327

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005147269

NM_005050.4(ABCD4):c.442C>T (p.Gln148Ter)

SNV
Germline

Chr14:74296433

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005195413

NM_000341.4(SLC3A1):c.982G>T (p.Glu328Ter)

SNV
Germline

Chr2:44300061

Pathogenic

Cystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005198130

NM_000341.4(SLC3A1):c.1373G>A (p.Gly458Glu)

SNV
Germline

Chr2:44312626

Conflicting classifications of pathogenicity

Cystinuria
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005198131 RCV005430970

NM_005957.5(MTHFR):c.152G>C (p.Arg51Pro)

SNV
Germline

Chr1:11802965

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005241226

NM_000071.3(CBS):c.836G>T (p.Gly279Val)

SNV
Germline

Chr21:43063071

Likely pathogenic

Classic homocystinuria

Criteria Provided
Single Submitter

1 SubmittersRCV005250476

NM_005050.4(ABCD4):c.158-1G>C

SNV
Germline

Chr14:74299676

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV005360198

NM_005334.3(HCFC1):c.97C>T (p.Arg33Cys)

SNV
Unknown

ChrX:153970744

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Single Submitter

1 SubmittersRCV005402313

NM_005957.5(MTHFR):c.1143G>A (p.Trp381Ter)

SNV
Germline

Chr1:11794752

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005605262

NM_000071.3(CBS):c.3G>A (p.Met1Ile)

SNV
Germline

Chr21:43072191

Likely pathogenic

Classic homocystinuria

No Assertion Criteria Provided

1 SubmittersRCV005612156