ClinVar for Gene (Select 4522) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215065	NM_005956.4(MTHFD1):c.2470G>A (p.Asp824Asn)	MTHFD1, ZBTB25 (D824N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3215057	NM_005956.4(MTHFD1):c.239A>T (p.Glu80Val)	MTHFD1 (E80V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215040	NM_005956.4(MTHFD1):c.1954G>C (p.Asp652His)	MTHFD1 (D652H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215028	NM_005956.4(MTHFD1):c.1220C>G (p.Ala407Gly)	MTHFD1 (A407G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148972	NM_005956.4(MTHFD1):c.1843_1844dup (p.Met615fs)	MTHFD1 (M615fs)	Duplication (frameshift variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GUncertain significance
Select item 3044745	NM_005956.4(MTHFD1):c.*148A>C	MTHFD1, ZBTB25 (E954D)	Single nucleotide variant (missense variant +2 more)	MTHFD1-related disorder	GBenign
Select item 3044459	NM_005956.4(MTHFD1):c.1671G>A (p.Arg557=)	MTHFD1	Single nucleotide variant (synonymous variant)	MTHFD1-related disorder	GLikely benign
Select item 3031786	NM_005956.4(MTHFD1):c.1177C>T (p.Leu393=)	MTHFD1	Single nucleotide variant (synonymous variant)	MTHFD1-related disorder	GLikely benign
Select item 3031594	NM_005956.4(MTHFD1):c.468C>T (p.Ile156=)	MTHFD1	Single nucleotide variant (synonymous variant)	MTHFD1-related disorder	GLikely benign
Select item 3021699	NM_005956.4(MTHFD1):c.1652C>A (p.Thr551Lys)	MTHFD1 (T551K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011473	NM_005956.4(MTHFD1):c.507G>A (p.Val169=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004182	NM_005956.4(MTHFD1):c.1311+12T>C	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001342	NM_005956.4(MTHFD1):c.187-15A>T	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000536	NM_005956.4(MTHFD1):c.953+12G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998922	NM_005956.4(MTHFD1):c.1338C>A (p.Ile446=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996061	NM_005956.4(MTHFD1):c.2137-15T>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989879	NM_005956.4(MTHFD1):c.2288C>T (p.Thr763Ile)	MTHFD1, ZBTB25 (T763I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989878	NM_005956.4(MTHFD1):c.988C>G (p.Pro330Ala)	MTHFD1 (P330A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985513	NM_005956.4(MTHFD1):c.2535T>G (p.Ala845=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980894	NM_005956.4(MTHFD1):c.1128-17T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976657	NM_005956.4(MTHFD1):c.1419+10C>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975437	NM_005956.4(MTHFD1):c.1113C>T (p.Tyr371=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972379	NM_005956.4(MTHFD1):c.618A>G (p.Val206=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971644	NM_005956.4(MTHFD1):c.1265-20A>G	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970015	NM_005956.4(MTHFD1):c.573A>G (p.Thr191=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968514	NM_005956.4(MTHFD1):c.123A>G (p.Leu41=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966760	NM_005956.4(MTHFD1):c.186+18G>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966258	NM_005956.4(MTHFD1):c.705C>T (p.Asp235=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962139	NM_005956.4(MTHFD1):c.187-17T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958246	NM_005956.4(MTHFD1):c.1884+7A>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957913	NM_005956.4(MTHFD1):c.2676C>T (p.Arg892=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957871	NM_005956.4(MTHFD1):c.1264+17A>T	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954869	NM_005956.4(MTHFD1):c.616G>A (p.Val206Ile)	MTHFD1 (V206I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909310	NM_005956.4(MTHFD1):c.2136+7G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908283	NM_005956.4(MTHFD1):c.1996+1G>A	MTHFD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2904018	NM_005956.4(MTHFD1):c.1462A>C (p.Arg488=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897385	NM_005956.4(MTHFD1):c.747G>C (p.Gly249=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891753	NM_005956.4(MTHFD1):c.1527A>G (p.Thr509=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889021	NM_005956.4(MTHFD1):c.2619C>T (p.His873=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881351	NM_005956.4(MTHFD1):c.1311+18T>G	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880464	NM_005956.4(MTHFD1):c.2136+12G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875388	NM_005956.4(MTHFD1):c.855+9G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871019	NM_005956.4(MTHFD1):c.2349G>C (p.Val783=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868185	NM_005956.4(MTHFD1):c.720T>C (p.Tyr240=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864157	NM_005956.4(MTHFD1):c.2179-10_2179-8del	MTHFD1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2862384	NM_005956.4(MTHFD1):c.855+11_855+21del	MTHFD1	Deletion (intron variant)	not provided	GLikely benign
Select item 2860410	NM_005956.4(MTHFD1):c.210T>C (p.Ile70=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856329	NM_005956.4(MTHFD1):c.786A>G (p.Lys262=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840628	NM_005956.4(MTHFD1):c.1674+13C>T	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833340	NM_005956.4(MTHFD1):c.999G>A (p.Lys333=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820622	NM_005956.4(MTHFD1):c.2100T>G (p.Thr700=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814513	NM_005956.4(MTHFD1):c.2179-5T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813712	NM_005956.4(MTHFD1):c.153_154del (p.Ile53fs)	MTHFD1 (I53fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2813162	NM_005956.4(MTHFD1):c.127-12T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813005	NM_005956.4(MTHFD1):c.2058G>A (p.Arg686=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806221	NM_005956.4(MTHFD1):c.856-4T>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803690	NM_005956.4(MTHFD1):c.186+11A>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802030	NM_005956.4(MTHFD1):c.2190G>A (p.Leu730=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797788	NM_005956.4(MTHFD1):c.1674+16T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797638	NM_005956.4(MTHFD1):c.126+13T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795981	NM_005956.4(MTHFD1):c.1659G>A (p.Lys553=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794471	NM_005956.4(MTHFD1):c.41+15TTG[2]	MTHFD1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2793102	NM_005956.4(MTHFD1):c.1598-11G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791150	NM_005956.4(MTHFD1):c.192G>A (p.Gly64=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788435	NM_005956.4(MTHFD1):c.819C>A (p.Gly273=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788022	NM_005956.4(MTHFD1):c.945T>C (p.Pro315=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781590	NM_005956.4(MTHFD1):c.969A>C (p.Ser323=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779458	NM_005956.4(MTHFD1):c.2178+10G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776166	NM_005956.4(MTHFD1):c.1080A>G (p.Leu360=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775991	NM_005956.4(MTHFD1):c.30G>A (p.Lys10=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769546	NM_005956.4(MTHFD1):c.316G>T (p.Glu106Ter)	MTHFD1 (E106*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2768541	NM_005956.4(MTHFD1):c.738A>G (p.Lys246=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767338	NM_005956.4(MTHFD1):c.2640C>G (p.Val880=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2766041	NM_005956.4(MTHFD1):c.883C>T (p.Leu295=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762608	NM_005956.4(MTHFD1):c.1494+1G>C	MTHFD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2762460	NM_005956.4(MTHFD1):c.2674C>T (p.Arg892Cys)	MTHFD1, ZBTB25 (R892C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2761162	NM_005956.4(MTHFD1):c.1128-20C>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756240	NM_005956.4(MTHFD1):c.924C>T (p.Asn308=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754422	NM_005956.4(MTHFD1):c.1495-11T>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749590	NM_005956.4(MTHFD1):c.1495-9C>T	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743832	NM_005956.4(MTHFD1):c.2188C>T (p.Leu730=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741798	NM_005956.4(MTHFD1):c.651T>C (p.Gly217=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739847	NM_005956.4(MTHFD1):c.2280-4A>C	MTHFD1, ZBTB25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2738637	NM_005956.4(MTHFD1):c.2555del (p.Tyr852fs)	MTHFD1, ZBTB25 (Y852fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2735713	NM_005956.4(MTHFD1):c.2718+9A>C	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732544	NM_005956.4(MTHFD1):c.1996+10T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731322	NM_005956.4(MTHFD1):c.2312G>C (p.Ser771Thr)	MTHFD1, ZBTB25 (S771T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2714138	NM_005956.4(MTHFD1):c.1863C>G (p.Pro621=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700745	NM_005956.4(MTHFD1):c.351T>A (p.Ala117=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693278	NM_005956.4(MTHFD1):c.1485A>C (p.Arg495=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691633	NM_005956.4(MTHFD1):c.240+6C>A	MTHFD1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2685492	GRCh37/hg19 14q23.3(chr14:64876448-64926838)x1	MTHFD1	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2607705	NM_005956.4(MTHFD1):c.1979G>A (p.Gly660Asp)	MTHFD1 (G660D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554614	NM_005956.4(MTHFD1):c.2116A>G (p.Met706Val)	MTHFD1 (M706V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543338	NM_005956.4(MTHFD1):c.775G>C (p.Asp259His)	MTHFD1 (D259H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516794	NM_005956.4(MTHFD1):c.275C>A (p.Ser92Tyr)	MTHFD1 (S92Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501176	NM_005956.4(MTHFD1):c.1807G>T (p.Glu603Ter)	MTHFD1 (E603*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2489328	NM_005956.4(MTHFD1):c.1525A>G (p.Thr509Ala)	MTHFD1 (T509A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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