ABHD8[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1296712	NM_024527.5(ABHD8):c.60C>T (p.Ala20=)	ABHD8, MRPL34	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062387	GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	NR2F6, NWD1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688037	GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1	ABHD8, ANKLE1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 560145	Single allele	ABHD8, ANKLE1 +16 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253857	GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	ABHD8, ANKLE1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 253712	GRCh37/hg19 19p13.11(chr19:17392434-17449187)x1	GTPBP3, ANO8 +4 more	Copy number loss	See cases	GUncertain significance

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Items: 36