"Ambry Genetics"[submitter] AND "MAF"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 540230	NM_016373.4(WWOX):c.1078G>A (p.Val360Met)	MAF, WWOX (V360M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 946158	NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr)	MAF, WWOX (C269Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 410084	NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)	WWOX, MAF (T393M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1517395	NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp)	MAF, WWOX (R395W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 586943	NM_016373.4(WWOX):c.1196C>T (p.Ala399Val)	MAF, WWOX (A399V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GUncertain significance
Select item 1005203	NM_016373.4(WWOX):c.1204G>C (p.Glu402Gln)	MAF, WWOX (E289Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1683687	NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu)	MAF, WWOX (R295L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +3 more	GUncertain significance
Select item 2532980	NM_005360.5(MAF):c.1138T>A (p.Leu380Met)	MAF (L380M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985458	NM_005360.5(MAF):c.887T>C (p.Leu296Pro)	MAF (L296P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390694	NM_005360.5(MAF):c.760G>C (p.Gly254Arg)	MAF (G254R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474937	NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del)	MAF	Deletion (inframe_deletion)	Inborn genetic diseases +3 more	GLikely benign
Select item 1350488	NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup)	MAF	Microsatellite (inframe_insertion)	Cataract 21 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 2534263	NM_005360.5(MAF):c.619G>T (p.Ala207Ser)	MAF (A207S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 474936	NM_005360.5(MAF):c.611G>T (p.Gly204Val)	MAF (G204V)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome +3 more	GBenign
Select item 2291891	NM_005360.5(MAF):c.604G>A (p.Ala202Thr)	MAF (A202T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230529	NM_005360.5(MAF):c.593G>A (p.Gly198Asp)	MAF (G198D)	Single nucleotide variant (missense variant)	MAF-related condition +1 more	GUncertain significance
Select item 2376144	NM_005360.5(MAF):c.586A>C (p.Thr196Pro)	MAF (T196P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376143	NM_005360.5(MAF):c.578A>C (p.His193Pro)	MAF (H193P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358914	NM_005360.5(MAF):c.547C>A (p.His183Asn)	MAF (H183N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2249066	NM_005360.5(MAF):c.487G>A (p.Val163Met)	MAF (V163M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240371	NM_005360.5(MAF):c.478G>A (p.Ala160Thr)	MAF (A160T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313952	NM_005360.5(MAF):c.460G>A (p.Gly154Ser)	MAF (G154S)	Single nucleotide variant (missense variant)	Cataract 21 multiple types +4 more	GConflicting classifications of pathogenicity
Select item 2406854	NM_005360.5(MAF):c.334G>T (p.Asp112Tyr)	MAF (D112Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521242	NM_005360.5(MAF):c.170C>T (p.Ser57Phe)	MAF (S57F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic

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Items: 24