MTHFD1L[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2233078	NM_015440.5(MTHFD1L):c.5G>A (p.Gly2Asp)	MTHFD1L (G2D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605017	NM_015440.5(MTHFD1L):c.10C>A (p.Arg4Ser)	MTHFD1L (R4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215199	NM_015440.5(MTHFD1L):c.49C>G (p.Gln17Glu)	LOC129997464, MTHFD1L (Q17E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604074	NM_015440.5(MTHFD1L):c.61C>T (p.Pro21Ser)	LOC129997464, MTHFD1L (P21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215220	NM_015440.5(MTHFD1L):c.83C>G (p.Pro28Arg)	LOC129997464, MTHFD1L (P28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389400	NM_015440.5(MTHFD1L):c.103G>A (p.Gly35Ser)	LOC129997464, MTHFD1L (G35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220131	NM_015440.5(MTHFD1L):c.121G>A (p.Gly41Ser)	LOC129997464, MTHFD1L (G41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521449	NM_015440.5(MTHFD1L):c.128G>C (p.Arg43Pro)	LOC129997464, MTHFD1L (R43P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486740	NM_015440.5(MTHFD1L):c.203C>T (p.Pro68Leu)	LOC129997464, MTHFD1L (P68L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215173	NM_015440.5(MTHFD1L):c.253G>A (p.Val85Ile)	MTHFD1L (V19I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476196	NM_015440.5(MTHFD1L):c.293C>T (p.Pro98Leu)	MTHFD1L (P32L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215193	NM_015440.5(MTHFD1L):c.383A>G (p.His128Arg)	MTHFD1L (H18R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215206	NM_015440.5(MTHFD1L):c.644-3T>C	MTHFD1L (V105A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215207	NM_015440.5(MTHFD1L):c.656A>G (p.Asp219Gly)	MTHFD1L (D154G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215210	NM_015440.5(MTHFD1L):c.715C>G (p.Leu239Val)	MTHFD1L (L239V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323438	NM_015440.5(MTHFD1L):c.764G>A (p.Arg255His)	MTHFD1L (R146H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215217	NM_015440.5(MTHFD1L):c.768G>T (p.Gln256His)	MTHFD1L (Q147H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2410648	NM_015440.5(MTHFD1L):c.796A>G (p.Ile266Val)	MTHFD1L (I156V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246019	NM_015440.5(MTHFD1L):c.846A>G (p.Ile282Met)	MTHFD1L (I172M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293961	NM_015440.5(MTHFD1L):c.961C>G (p.Leu321Val)	MTHFD1L (L212V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232132	NM_015440.5(MTHFD1L):c.977G>A (p.Arg326Gln)	MTHFD1L (R217Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215081	NM_015440.5(MTHFD1L):c.1027C>G (p.His343Asp)	MTHFD1L (H277D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211587	NM_015440.5(MTHFD1L):c.1107A>C (p.Gln369His)	MTHFD1L (Q260H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221081	NM_015440.5(MTHFD1L):c.1169T>C (p.Ile390Thr)	MTHFD1L (I280T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215098	NM_015440.5(MTHFD1L):c.1204G>A (p.Val402Met)	MTHFD1L (V292M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362176	NM_015440.5(MTHFD1L):c.1231G>A (p.Asp411Asn)	MTHFD1L (D346N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736282	NM_015440.5(MTHFD1L):c.1257-8G>A	MTHFD1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3215112	NM_015440.5(MTHFD1L):c.1340A>G (p.Asn447Ser)	MTHFD1L (N448S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612966	NM_015440.5(MTHFD1L):c.1372G>A (p.Gly458Arg)	MTHFD1L (G392R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215120	NM_015440.5(MTHFD1L):c.1397G>A (p.Gly466Glu)	MTHFD1L (G356E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778267	NM_015440.5(MTHFD1L):c.1503C>T (p.Ala501=)	MTHFD1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2337585	NM_015440.5(MTHFD1L):c.1526A>G (p.His509Arg)	MTHFD1L (H399R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357035	NM_015440.5(MTHFD1L):c.1556A>G (p.Tyr519Cys)	MTHFD1L (Y453C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552945	NM_015440.5(MTHFD1L):c.1607A>G (p.Gln536Arg)	MTHFD1L (Q426R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339425	NM_015440.5(MTHFD1L):c.1646A>G (p.Asp549Gly)	MTHFD1L (D550G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615265	NM_015440.5(MTHFD1L):c.1649C>G (p.Pro550Arg)	MTHFD1L (P485R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225444	NM_015440.5(MTHFD1L):c.1706C>A (p.Ser569Tyr)	MTHFD1L (S460Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364513	NM_015440.5(MTHFD1L):c.1715C>T (p.Thr572Met)	MTHFD1L (T462M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360237	NM_015440.5(MTHFD1L):c.1805C>T (p.Ala602Val)	MTHFD1L (A536V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375661	NM_015440.5(MTHFD1L):c.2104G>A (p.Val702Ile)	MTHFD1L (V592I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333305	NM_015440.5(MTHFD1L):c.2134G>A (p.Ala712Thr)	MTHFD1L (A646T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559010	NM_015440.5(MTHFD1L):c.2170T>G (p.Phe724Val)	MTHFD1L (F16V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259821	NM_015440.5(MTHFD1L):c.2186G>A (p.Arg729Gln)	MTHFD1L (R664Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215148	NM_015440.5(MTHFD1L):c.2201T>C (p.Val734Ala)	MTHFD1L (V669A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462048	NM_015440.5(MTHFD1L):c.2270C>T (p.Thr757Met)	MTHFD1L (T692M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605464	NM_015440.5(MTHFD1L):c.2285T>C (p.Leu762Pro)	MTHFD1L (L54P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284510	NM_015440.5(MTHFD1L):c.2384T>C (p.Val795Ala)	MTHFD1L (V729A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233304	NM_015440.5(MTHFD1L):c.2406C>A (p.Phe802Leu)	MTHFD1L (F94L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542012	NM_015440.5(MTHFD1L):c.2413G>A (p.Asp805Asn)	MTHFD1L (D739N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215170	NM_015440.5(MTHFD1L):c.2495C>G (p.Ser832Cys)	MTHFD1L (S766C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215179	NM_015440.5(MTHFD1L):c.2593A>G (p.Ile865Val)	MTHFD1L (I756V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3215182	NM_015440.5(MTHFD1L):c.2605A>T (p.Ile869Leu)	MTHFD1L (I161L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358697	NM_015440.5(MTHFD1L):c.2618C>T (p.Ala873Val)	MTHFD1L (A165V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356392	NM_015440.5(MTHFD1L):c.2800G>A (p.Val934Ile)	LOC126859831, MTHFD1L (V869I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349700	NM_015440.5(MTHFD1L):c.2842G>A (p.Gly948Arg)	LOC126859831, MTHFD1L (G838R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2684459	GRCh37/hg19 6q25.1(chr6:151228287-151675895)x3	AKAP12, MTHFD1L	Copy number gain	not provided	GUncertain significance
Select item 2684458	GRCh37/hg19 6q25.1(chr6:151110723-151416268)x3	MTHFD1L, PLEKHG1	Copy number gain	not provided	GUncertain significance
Select item 980797	GRCh37/hg19 6q25.1(chr6:151121109-151664579)x3	AKAP12, MTHFD1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 687883	GRCh37/hg19 6q25.1(chr6:151125814-151676908)x3	AKAP12, MTHFD1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 394942	GRCh37/hg19 6q25.1(chr6:150981044-151304777)x3	MTHFD1L, PLEKHG1	Copy number gain	See cases	GLikely benign
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

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Items: 76