Related gene-specific medical variations for Gene (Select 79029) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274810	NM_024063.3(AFG2B):c.607G>A (p.Gly203Arg)	AFG2B, LOC130056998 (G203R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093057	NM_024063.3(AFG2B):c.679A>C (p.Thr227Pro)	AFG2B, LOC130056998 (T227P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093053	NM_024063.3(AFG2B):c.674C>T (p.Ala225Val)	AFG2B, LOC130056998 (A225V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093028	NM_024063.3(AFG2B):c.37C>G (p.Leu13Val)	AFG2B, LOC130056996 (L13V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093019	NM_024063.3(AFG2B):c.26C>T (p.Pro9Leu)	AFG2B, LOC130056996 (P9L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3065737	NM_024063.3(AFG2B):c.1304_1305del (p.Ile435fs)	AFG2B (I435fs)	Deletion (frameshift variant +1 more)	Hearing loss, autosomal recessive 119	GPathogenic
Select item 3042678	NM_024063.3(AFG2B):c.120C>T (p.Gly40=)	AFG2B, LOC130056997	Single nucleotide variant (synonymous variant +1 more)	AFG2B-related disorder	GLikely benign
Select item 2645306	NM_024063.3(AFG2B):c.675C>T (p.Ala225=)	AFG2B, LOC130056998	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2530986	NM_024063.3(AFG2B):c.620A>G (p.Glu207Gly)	AFG2B, LOC130056998 (E207G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213777	NM_024063.3(AFG2B):c.136G>A (p.Ala46Thr)	AFG2B, LOC130056997 (A46T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1321879	NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs)	AFG2B, LOC130056998 (E207fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1316371	NM_024063.3(AFG2B):c.191G>A (p.Arg64Gln)	AFG2B, LOC130056997 (R64Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1275865	NM_024063.3(AFG2B):c.190C>T (p.Arg64Trp)	AFG2B, LOC130056997 (R64W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1275861	NM_024063.3(AFG2B):c.734T>A (p.Val245Glu)	AFG2B, LOC130056998 (V245E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1275859	NM_024063.3(AFG2B):c.196G>T (p.Asp66Tyr)	AFG2B, LOC130056997 (D66Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1265267	NM_024063.3(AFG2B):c.-25C>T	AFG2B, LOC130056996	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1235297	NM_024063.3(AFG2B):c.141G>T (p.Val47=)	AFG2B, LOC130056997	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 504204	NM_024063.3(AFG2B):c.1A>T (p.Met1Leu)	AFG2B, LOC130056996 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance