Related gene-specific medical variations for Gene (Select 79575) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131238	NM_024527.5(ABHD8):c.956C>G (p.Ala319Gly)	ABHD8, MRPL34 (A319G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131229	NM_024527.5(ABHD8):c.760G>T (p.Gly254Cys)	ABHD8, MRPL34 (G254C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131218	NM_024527.5(ABHD8):c.594T>G (p.Phe198Leu)	ABHD8, MRPL34 (F198L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131191	NM_024527.5(ABHD8):c.371C>T (p.Pro124Leu)	ABHD8, MRPL34 (P124L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131167	NM_024527.5(ABHD8):c.187G>C (p.Ala63Pro)	ABHD8, MRPL34 (A63P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622951	NM_024527.5(ABHD8):c.127G>C (p.Val43Leu)	ABHD8, MRPL34 (V43L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534993	NM_024527.5(ABHD8):c.706G>A (p.Ala236Thr)	ABHD8, MRPL34 (A236T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522738	NM_024527.5(ABHD8):c.406G>A (p.Ala136Thr)	ABHD8, MRPL34 (A136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516822	NM_024527.5(ABHD8):c.415G>A (p.Gly139Ser)	ABHD8, MRPL34 (G139S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464476	NM_024527.5(ABHD8):c.367G>T (p.Asp123Tyr)	ABHD8, MRPL34 (D123Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462586	NM_024527.5(ABHD8):c.1262A>C (p.Glu421Ala)	ABHD8, LOC130063924 +1 more (E421A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2455472	NM_024527.5(ABHD8):c.780C>G (p.Phe260Leu)	ABHD8, MRPL34 (F260L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347125	NM_024527.5(ABHD8):c.1121C>T (p.Pro374Leu)	ABHD8, MRPL34 (P374L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334560	NM_024527.5(ABHD8):c.946C>A (p.Arg316Ser)	ABHD8, MRPL34 (R316S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264210	NM_024527.5(ABHD8):c.32G>C (p.Cys11Ser)	ABHD8, MRPL34 (C11S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252674	NM_024527.5(ABHD8):c.644C>T (p.Ala215Val)	ABHD8, MRPL34 (A215V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249425	NM_024527.5(ABHD8):c.401G>A (p.Gly134Asp)	ABHD8, MRPL34 (G134D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222512	NM_024527.5(ABHD8):c.1030G>A (p.Gly344Ser)	ABHD8, MRPL34 (G344S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1296712	NM_024527.5(ABHD8):c.60C>T (p.Ala20=)	ABHD8, MRPL34	Single nucleotide variant (synonymous variant)	not provided	GBenign