ClinVar for MedGen (Select 343470) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377642	NM_005957.5(MTHFR):c.1442C>A (p.Thr481Asn)	MTHFR (T481N +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 3366582	NM_005957.5(MTHFR):c.1736dup (p.Ser579fs)	MTHFR (S579fs +2 more)	Duplication (frameshift variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 3362328	NM_005957.5(MTHFR):c.362G>T (p.Gly121Val)	MTHFR (G121V +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 3256676	NM_005957.5(MTHFR):c.385A>G (p.Thr129Ala)	MTHFR (T129A +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 3247763	NC_000001.10:g.(?_11852300)_(11854940_?)del	MTHFR	Deletion	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 3247762	NC_000001.10:g.(?_11853954)_(11856466_?)del	MTHFR	Deletion	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 3247761	NC_000001.10:g.(?_11850737)_(11863214_?)del	MTHFR	Deletion	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 3220909	NM_005957.5(MTHFR):c.1596C>G (p.Tyr532Ter)	MTHFR (Y532* +2 more)	Single nucleotide variant (nonsense)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely pathogenic
Select item 3023568	NM_005957.5(MTHFR):c.1632+11C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 3023510	NM_005957.5(MTHFR):c.1337A>G (p.Asn446Ser)	MTHFR (N486S +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GUncertain significance
Select item 3022764	NM_005957.5(MTHFR):c.1233G>A (p.Lys411=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 3016249	NM_005957.5(MTHFR):c.1633-18del	MTHFR	Deletion (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GBenign
Select item 3015826	NM_005957.5(MTHFR):c.1633-18C>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 3015706	NM_005957.5(MTHFR):c.586+11G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 3012397	NM_005957.5(MTHFR):c.1845C>T (p.Asn615=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 3009987	NM_005957.5(MTHFR):c.1252_1275del (p.Leu418_Leu425del)	MTHFR	Deletion (inframe_deletion)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 3006392	NM_005957.5(MTHFR):c.1167-12C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2997998	NM_005957.5(MTHFR):c.1485C>T (p.Asp495=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2996540	NM_005957.5(MTHFR):c.1632+14del	MTHFR	Deletion (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GBenign
Select item 2994394	NM_005957.5(MTHFR):c.1584G>A (p.Val528=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2993336	NM_005957.5(MTHFR):c.1752+16del	MTHFR	Deletion (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GBenign
Select item 2989496	NM_005957.5(MTHFR):c.1753-20G>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2979036	NM_005957.5(MTHFR):c.1167-14C>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2975691	NM_005957.5(MTHFR):c.1509C>T (p.Ser503=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2972318	NM_005957.5(MTHFR):c.237-15A>G	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2968100	NM_005957.5(MTHFR):c.1753-34_1753-19dup	MTHFR	Duplication (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2966619	NM_005957.5(MTHFR):c.1503C>A (p.Gly501=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2964862	NM_005957.5(MTHFR):c.587-11C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2961105	NM_005957.5(MTHFR):c.237-10C>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2957757	NM_005957.5(MTHFR):c.475+17C>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2956096	NM_005957.5(MTHFR):c.1332C>T (p.Asn444=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2954922	NM_005957.5(MTHFR):c.781-13A>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2920017	NM_005957.5(MTHFR):c.1530+7T>C	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2919145	NM_005957.5(MTHFR):c.1530+19G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2914855	NM_005957.5(MTHFR):c.1530+17C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2911988	NM_005957.5(MTHFR):c.1633-20C>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2910533	NM_005957.5(MTHFR):c.1031+12G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2907917	NM_005957.5(MTHFR):c.678C>A (p.Ile226=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2907765	NM_005957.5(MTHFR):c.1032-20C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2906845	NM_005957.5(MTHFR):c.1167G>A (p.Trp389Ter)	MTHFR (W429* +2 more)	Single nucleotide variant (nonsense)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2905422	NM_005957.5(MTHFR):c.699T>C (p.Ala233=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2904805	NM_005957.5(MTHFR):c.1348-12C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2902718	NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)	MTHFR (Q260* +2 more)	Single nucleotide variant (nonsense)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2901382	NM_005957.5(MTHFR):c.1031+20G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2899442	NM_005957.5(MTHFR):c.1293C>G (p.Val431=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2898587	NM_005957.5(MTHFR):c.586+20T>C	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2898523	NM_005957.5(MTHFR):c.1032-17del	MTHFR	Deletion (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2898153	NM_005957.5(MTHFR):c.1167-18T>C	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2897613	NM_005957.5(MTHFR):c.1348-15C>G	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2896530	NM_005957.5(MTHFR):c.586+15C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2893394	NM_005957.5(MTHFR):c.780+16G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2891204	NM_005957.5(MTHFR):c.357C>T (p.Tyr119=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2891106	NM_005957.5(MTHFR):c.1357C>T (p.Leu453=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2887541	NM_005957.5(MTHFR):c.1530+14G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2886828	NM_005957.5(MTHFR):c.1031+15C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2884770	NM_005957.5(MTHFR):c.236+7T>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2881832	NM_005957.5(MTHFR):c.1575T>G (p.Leu525=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2871314	NM_005957.5(MTHFR):c.1753-14G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2866601	NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter)	MTHFR (W349* +2 more)	Single nucleotide variant (nonsense)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2864380	NM_005957.5(MTHFR):c.16del (p.Arg6fs)	MTHFR (R46fs +2 more)	Deletion (frameshift variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2863880	NM_005957.5(MTHFR):c.872_875dup (p.Ala293fs)	MTHFR (A293fs +2 more)	Duplication (frameshift variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2862575	NM_005957.5(MTHFR):c.831A>G (p.Pro277=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2861400	NM_005957.5(MTHFR):c.712del (p.Arg238fs)	MTHFR (R278fs +2 more)	Deletion (frameshift variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2858292	NM_005957.5(MTHFR):c.1378del (p.Leu460fs)	MTHFR (L501fs +2 more)	Deletion (frameshift variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2858132	NM_005957.5(MTHFR):c.1753-8G>C	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2857373	NM_005957.5(MTHFR):c.1830G>A (p.Gln610=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2857279	NM_005957.5(MTHFR):c.105G>C (p.Pro35=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2854554	NM_005957.5(MTHFR):c.1297G>T (p.Glu433Ter)	MTHFR (E473* +2 more)	Single nucleotide variant (nonsense)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2848530	NM_005957.5(MTHFR):c.780+18G>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2848151	NM_005957.5(MTHFR):c.1530+1G>A	MTHFR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive +1 more	GLikely pathogenic
Select item 2842866	NM_005957.5(MTHFR):c.237-8C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2841512	NM_005957.5(MTHFR):c.447C>T (p.Gly149=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2841143	NM_005957.5(MTHFR):c.1531-19G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2836482	NM_005957.5(MTHFR):c.790del (p.Ser264fs)	MTHFR (S264fs +2 more)	Deletion (frameshift variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2836168	NM_005957.5(MTHFR):c.1536C>T (p.Tyr512=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2835158	NM_005957.5(MTHFR):c.1032-12A>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2835154	NM_005957.5(MTHFR):c.1032-14C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2834009	NM_005957.5(MTHFR):c.1380G>A (p.Leu460=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2831359	NM_005957.5(MTHFR):c.1166+8C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2828501	NM_005957.5(MTHFR):c.587-4G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2825629	NM_005957.5(MTHFR):c.105G>T (p.Pro35=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2825609	NM_005957.5(MTHFR):c.1347+14_1347+80del	MTHFR	Deletion (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2822928	NM_005957.5(MTHFR):c.621T>C (p.Phe207=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2822185	NM_005957.5(MTHFR):c.243C>T (p.Asp81=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2821389	NM_005957.5(MTHFR):c.1514G>C (p.Gly505Ala)	MTHFR (G505A +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 2818429	NM_005957.5(MTHFR):c.1605G>A (p.Arg535=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2817973	NM_005957.5(MTHFR):c.1632+35G>C	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2817468	NM_005957.5(MTHFR):c.1632+10G>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2816574	NM_005957.5(MTHFR):c.587-15C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2811435	NM_005957.5(MTHFR):c.1753-4G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2811104	NM_005957.5(MTHFR):c.1753-10GT[6]	MTHFR	Microsatellite (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2810948	NM_005957.5(MTHFR):c.273A>C (p.Ile91=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2809569	NM_005957.5(MTHFR):c.587-9T>C	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2809399	NM_005957.5(MTHFR):c.387C>T (p.Thr129=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2807305	NM_005957.5(MTHFR):c.780+11C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2805285	NM_005957.5(MTHFR):c.237-20C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2799238	NM_005957.5(MTHFR):c.1374G>A (p.Glu458=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2795638	NM_005957.5(MTHFR):c.339C>G (p.Ala113=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2795096	NM_005957.5(MTHFR):c.60C>T (p.Ser20=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2789954	NM_005957.5(MTHFR):c.475+10C>T	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign

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