MTF2[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 151368	GRCh38/hg38 1p22.1(chr1:92490929-93507291)x1	CCDC18, CCDC18-AS1 +39 more	Copy number loss	See cases	GPathogenic
Select item 2272625	NM_007358.4(MTF2):c.19G>A (p.Ala7Thr)	MTF2 (A7T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2242213	NM_007358.4(MTF2):c.23G>C (p.Gly8Ala)	MTF2 (G8A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2282573	NM_007358.4(MTF2):c.149A>G (p.Gln50Arg)	MTF2 (Q50R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2268075	NM_007358.4(MTF2):c.415G>C (p.Asp139His)	MTF2 (D37H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218128	NM_007358.4(MTF2):c.472A>T (p.Thr158Ser)	MTF2 (T56S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711276	NM_007358.4(MTF2):c.728+9G>A	MTF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2206700	NM_007358.4(MTF2):c.1316T>C (p.Ile439Thr)	MTF2 (I439T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396713	NM_007358.4(MTF2):c.1339C>T (p.His447Tyr)	MTF2 (H390Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319334	NM_007358.4(MTF2):c.1349A>G (p.Asn450Ser)	MTF2 (N450S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561775	NM_007358.4(MTF2):c.1557T>G (p.Asp519Glu)	MTF2 (D519E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472818	NM_007358.4(MTF2):c.1739A>G (p.Lys580Arg)	MTF2 (K478R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216689	NM_007358.4(MTF2):c.1753G>A (p.Val585Met)	MTF2 (V483M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981207	GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1	BRDT, BTBD8 +15 more	Copy number loss	Diamond-Blackfan anemia 6	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 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic