ABHD11[gene] and "single gene"[properties] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2532526	NM_148912.4(ABHD11):c.902T>C (p.Ile301Thr)	ABHD11 (I197T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317023	NM_148912.4(ABHD11):c.894A>G (p.Ile298Met)	ABHD11 (I241M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3316918	NM_148912.4(ABHD11):c.878G>A (p.Arg293His)	ABHD11 (R236H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130214	NM_148912.4(ABHD11):c.842C>T (p.Thr281Met)	ABHD11 (T224M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247158	NM_148912.4(ABHD11):c.815G>A (p.Arg272Gln)	ABHD11 (R215Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317229	NM_148912.4(ABHD11):c.791C>G (p.Pro264Arg)	ABHD11 (P257R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317128	NM_148912.4(ABHD11):c.648G>C (p.Glu216Asp)	ABHD11 (E209D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600633	NM_148912.4(ABHD11):c.647A>G (p.Glu216Gly)	ABHD11 (E112G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248633	NM_148912.4(ABHD11):c.635C>T (p.Thr212Ile)	ABHD11 (T155I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483334	NM_148912.4(ABHD11):c.620G>A (p.Arg207Gln)	ABHD11 (R103Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130196	NM_148912.4(ABHD11):c.619C>T (p.Arg207Trp)	ABHD11 (R103W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208542	NM_148912.4(ABHD11):c.616G>A (p.Val206Met)	ABHD11 (V149M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508624	NM_148912.4(ABHD11):c.563G>A (p.Arg188His)	ABHD11 (R181H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2258171	NM_148912.4(ABHD11):c.563G>T (p.Arg188Leu)	ABHD11 (R84L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273795	NM_148912.4(ABHD11):c.457A>G (p.Ile153Val)	ABHD11 (I153V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408350	NM_148912.4(ABHD11):c.451C>T (p.Arg151Cys)	ABHD11 (R151C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315188	NM_148912.4(ABHD11):c.432G>C (p.Gln144His)	ABHD11 (Q144H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616650	NM_148912.4(ABHD11):c.427C>G (p.Leu143Val)	ABHD11 (L136V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467092	NM_148912.4(ABHD11):c.401G>A (p.Gly134Glu)	ABHD11 (G127E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 973062	NM_148912.4(ABHD11):c.397A>G (p.Met133Val)	ABHD11 (M126V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2304102	NM_148912.4(ABHD11):c.385G>A (p.Val129Ile)	ABHD11 (V25I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130164	NM_148912.4(ABHD11):c.379G>A (p.Val127Ile)	ABHD11 (V23I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130158	NM_148912.4(ABHD11):c.356C>T (p.Pro119Leu)	ABHD11 (P119L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509015	NM_148912.4(ABHD11):c.286C>G (p.His96Asp)	ABHD11 (H89D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298870	NM_148912.4(ABHD11):c.269C>G (p.Thr90Arg)	ABHD11 (T83R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130154	NM_148912.4(ABHD11):c.242C>T (p.Ala81Val)	ABHD11 (A81V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130153	NM_148912.4(ABHD11):c.214A>G (p.Asn72Asp)	ABHD11 (N65D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610371	NM_148912.4(ABHD11):c.201C>A (p.Phe67Leu)	ABHD11 (F67L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285846	NM_148912.4(ABHD11):c.158G>T (p.Gly53Val)	ABHD11 (G53V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289891	NM_148912.4(ABHD11):c.146G>A (p.Arg49Lys)	ABHD11 (R49K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3130143	NM_148912.4(ABHD11):c.76C>T (p.Pro26Ser)	ABHD11 (P26S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296397	NM_148912.4(ABHD11):c.50C>G (p.Pro17Arg)	ABHD11 (P17R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 32