Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_005957.5(MTHFR):c.152G>C (p.Arg51Pro)

SNV
Germline

Chr1:11802965