ABHD6[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2390096	NM_001320126.2(ABHD6):c.22A>T (p.Met8Leu)	ABHD6 (M8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131116	NM_001320126.2(ABHD6):c.35C>T (p.Ala12Val)	ABHD6 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329718	NM_001320126.2(ABHD6):c.103A>C (p.Ile35Leu)	ABHD6 (I35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369328	NM_001320126.2(ABHD6):c.152G>A (p.Arg51His)	ABHD6 (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323259	NM_001320126.2(ABHD6):c.226A>C (p.Met76Leu)	ABHD6 (M76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257746	NM_001320126.2(ABHD6):c.286A>G (p.Lys96Glu)	ABHD6 (K96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131115	NM_001320126.2(ABHD6):c.323A>G (p.His108Arg)	ABHD6 (H108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323517	NM_001320126.2(ABHD6):c.445A>G (p.Met149Val)	ABHD6 (M149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314484	NM_001320126.2(ABHD6):c.577G>C (p.Gly193Arg)	ABHD6 (G193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131122	NM_001320126.2(ABHD6):c.586G>A (p.Ala196Thr)	ABHD6 (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708984	NM_001320126.2(ABHD6):c.681+5C>T	ABHD6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3323343	NM_001320126.2(ABHD6):c.707G>A (p.Arg236His)	ABHD6 (R236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131124	NM_001320126.2(ABHD6):c.723C>A (p.Asn241Lys)	ABHD6 (N241K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332092	NM_001320126.2(ABHD6):c.731G>A (p.Arg244Gln)	ABHD6 (R244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323430	NM_001320126.2(ABHD6):c.799A>G (p.Lys267Glu)	ABHD6 (K267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623954	NM_001320126.2(ABHD6):c.847G>A (p.Val283Met)	ABHD6 (V283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336009	NM_001320126.2(ABHD6):c.892G>T (p.Val298Leu)	ABHD6 (V298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552585	NM_001320126.2(ABHD6):c.991G>C (p.Asp331His)	ABHD6 (D331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374532	NM_001320126.2(ABHD6):c.992A>G (p.Asp331Gly)	ABHD6 (D331G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance