MTF1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 2455052	NM_005955.3(MTF1):c.2204T>C (p.Ile735Thr)	MTF1 (I735T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744859	NM_005955.3(MTF1):c.2163A>G (p.Leu721=)	MTF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2323748	NM_005955.3(MTF1):c.2063C>T (p.Ser688Phe)	MTF1 (S688F)	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 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 2388900	NM_005955.3(MTF1):c.1972C>G (p.Pro658Ala)	MTF1 (P658A)	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 2550682	NM_005955.3(MTF1):c.1573A>G (p.Thr525Ala)	MTF1 (T525A)	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 2531906	NM_005955.3(MTF1):c.1525G>A (p.Ala509Thr)	MTF1 (A509T)	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 2307019	NM_005955.3(MTF1):c.1471G>A (p.Ala491Thr)	MTF1 (A491T)	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 719703	NM_005955.3(MTF1):c.1333C>T (p.Pro445Ser)	MTF1 (P445S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 769238	NM_005955.3(MTF1):c.1318C>T (p.Pro440Ser)	MTF1 (P440S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2287671	NM_005955.3(MTF1):c.1251A>C (p.Leu417Phe)	MTF1 (L417F)	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 730186	NM_005955.3(MTF1):c.1224G>A (p.Pro408=)	MTF1	Single nucleotide variant (synonymous 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 3214521	NM_005955.3(MTF1):c.1063A>G (p.Ser355Gly)	MTF1 (S355G)	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 3214595	NM_005955.3(MTF1):c.962A>G (p.Asn321Ser)	MTF1 (N321S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 759828	NM_005955.3(MTF1):c.684G>A (p.Thr228=)	MTF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2409521	NM_005955.3(MTF1):c.251T>C (p.Ile84Thr)	MTF1 (I84T)	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 2622588	NM_005955.3(MTF1):c.244C>T (p.His82Tyr)	MTF1 (H82Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756681	NM_005955.3(MTF1):c.204A>C (p.Gly68=)	MTF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774795	NM_005955.3(MTF1):c.189C>A (p.Asp63Glu)	MTF1 (D63E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45