ClinVar for Gene (Select 4520) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296594	NM_005955.3(MTF1):c.1315G>C (p.Ala439Pro)	MTF1 (A439P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296593	NM_005955.3(MTF1):c.1370C>T (p.Ala457Val)	MTF1 (A457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296592	NM_005955.3(MTF1):c.2236G>A (p.Gly746Ser)	MTF1 (G746S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296591	NM_005955.3(MTF1):c.1067C>T (p.Thr356Met)	MTF1 (T356M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296589	NM_005955.3(MTF1):c.1219G>T (p.Val407Phe)	MTF1 (V407F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296588	NM_005955.3(MTF1):c.1285G>A (p.Glu429Lys)	MTF1 (E429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296587	NM_005955.3(MTF1):c.1529C>T (p.Ala510Val)	MTF1 (A510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214595	NM_005955.3(MTF1):c.962A>G (p.Asn321Ser)	MTF1 (N321S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214563	NM_005955.3(MTF1):c.2033T>C (p.Phe678Ser)	MTF1 (F678S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214561	NM_005955.3(MTF1):c.2024C>A (p.Ala675Glu)	MTF1 (A675E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214554	NM_005955.3(MTF1):c.1643C>G (p.Pro548Arg)	MTF1 (P548R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214536	NM_005955.3(MTF1):c.1460C>T (p.Pro487Leu)	MTF1 (P487L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214523	NM_005955.3(MTF1):c.1246T>C (p.Ser416Pro)	MTF1 (S416P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214521	NM_005955.3(MTF1):c.1063A>G (p.Ser355Gly)	MTF1 (S355G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2622588	NM_005955.3(MTF1):c.244C>T (p.His82Tyr)	MTF1 (H82Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611950	NM_005955.3(MTF1):c.170C>A (p.Thr57Asn)	MTF1 (T57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602442	NM_005955.3(MTF1):c.1288C>A (p.Pro430Thr)	MTF1 (P430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593918	NM_005955.3(MTF1):c.2222G>T (p.Gly741Val)	MTF1 (G741V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550682	NM_005955.3(MTF1):c.1573A>G (p.Thr525Ala)	MTF1 (T525A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531906	NM_005955.3(MTF1):c.1525G>A (p.Ala509Thr)	MTF1 (A509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455052	NM_005955.3(MTF1):c.2204T>C (p.Ile735Thr)	MTF1 (I735T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429895	NM_005955.3(MTF1):c.1051C>T (p.Arg351Ter)	MTF1 (R351*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2409521	NM_005955.3(MTF1):c.251T>C (p.Ile84Thr)	MTF1 (I84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406736	NM_005955.3(MTF1):c.2096G>A (p.Arg699Gln)	MTF1 (R699Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396042	NM_005955.3(MTF1):c.1475C>T (p.Pro492Leu)	MTF1 (P492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393405	NM_005955.3(MTF1):c.1327C>T (p.Pro443Ser)	MTF1 (P443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388900	NM_005955.3(MTF1):c.1972C>G (p.Pro658Ala)	MTF1 (P658A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323748	NM_005955.3(MTF1):c.2063C>T (p.Ser688Phe)	MTF1 (S688F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316095	NM_005955.3(MTF1):c.784G>A (p.Asp262Asn)	MTF1 (D262N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307019	NM_005955.3(MTF1):c.1471G>A (p.Ala491Thr)	MTF1 (A491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292232	NM_005955.3(MTF1):c.620G>T (p.Cys207Phe)	MTF1 (C207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287671	NM_005955.3(MTF1):c.1251A>C (p.Leu417Phe)	MTF1 (L417F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242681	NM_005955.3(MTF1):c.250A>G (p.Ile84Val)	MTF1 (I84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230910	NM_005955.3(MTF1):c.1568A>C (p.Gln523Pro)	MTF1 (Q523P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219501	NM_005955.3(MTF1):c.2053G>A (p.Gly685Arg)	MTF1 (G685R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 774795	NM_005955.3(MTF1):c.189C>A (p.Asp63Glu)	MTF1 (D63E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769238	NM_005955.3(MTF1):c.1318C>T (p.Pro440Ser)	MTF1 (P440S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 759828	NM_005955.3(MTF1):c.684G>A (p.Thr228=)	MTF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756681	NM_005955.3(MTF1):c.204A>C (p.Gly68=)	MTF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 744859	NM_005955.3(MTF1):c.2163A>G (p.Leu721=)	MTF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730186	NM_005955.3(MTF1):c.1224G>A (p.Pro408=)	MTF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719703	NM_005955.3(MTF1):c.1333C>T (p.Pro445Ser)	MTF1 (P445S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715469	NM_005955.3(MTF1):c.1091C>T (p.Thr364Ile)	MTF1 (T364I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	AIRIM, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 52