"Ambry Genetics"[submitter] AND "ABHD12"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150198	NM_002862.4(PYGB):c.2324T>C (p.Phe775Ser)	ABHD12, PYGB (F775S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216703	NM_002862.4(PYGB):c.2345T>G (p.Met782Arg)	ABHD12, PYGB (M782R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150199	NM_002862.4(PYGB):c.2375A>G (p.Tyr792Cys)	ABHD12, PYGB (Y792C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273727	NM_002862.4(PYGB):c.2401A>G (p.Lys801Glu)	ABHD12, PYGB (K801E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622855	NM_002862.4(PYGB):c.2425T>C (p.Ser809Pro)	ABHD12, PYGB (S809P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339636	NM_002862.4(PYGB):c.2438C>T (p.Ser813Phe)	PYGB, ABHD12 (S813F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245636	NM_002862.4(PYGB):c.2447G>A (p.Arg816Gln)	ABHD12, PYGB (R816Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150201	NM_002862.4(PYGB):c.2485G>A (p.Glu829Lys)	ABHD12, PYGB (E829K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384985	NM_002862.4(PYGB):c.2513C>G (p.Pro838Arg)	ABHD12, PYGB (P838R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318610	NM_002862.4(PYGB):c.2525G>A (p.Arg842Gln)	ABHD12, PYGB (R842Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251145	NM_002862.4(PYGB):c.2527G>T (p.Asp843Tyr)	ABHD12, PYGB (D843Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1329730	NM_001042472.3(ABHD12):c.1175C>T (p.Ser392Leu)	ABHD12 (S392L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 864495	NM_001042472.3(ABHD12):c.1145C>T (p.Pro382Leu)	ABHD12 (P382L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1433176	NM_001042472.3(ABHD12):c.1091T>G (p.Phe364Cys)	ABHD12 (F364C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1039349	NM_001042472.3(ABHD12):c.988G>A (p.Ala330Thr)	ABHD12 (A330T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 957627	NM_001042472.3(ABHD12):c.952G>A (p.Val318Met)	ABHD12 (V318M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3317722	NM_001042472.3(ABHD12):c.883C>G (p.Pro295Ala)	ABHD12 (P295A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 941152	NM_001042472.3(ABHD12):c.870A>G (p.Ile290Met)	ABHD12 (I290M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 809237	NM_001042472.3(ABHD12):c.835C>T (p.Arg279Cys)	ABHD12 (R279C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 809238	NM_001042472.3(ABHD12):c.783G>T (p.Glu261Asp)	ABHD12 (E261D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1687644	NM_001042472.3(ABHD12):c.745A>G (p.Thr249Ala)	ABHD12, LOC126863008 (T249A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3317322	NM_001042472.3(ABHD12):c.670G>A (p.Ala224Thr)	ABHD12, LOC126863008 (A224T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1039749	NM_001042472.3(ABHD12):c.598G>A (p.Val200Met)	ABHD12 (V200M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1409355	NM_001042472.3(ABHD12):c.454G>A (p.Ala152Thr)	ABHD12 (A152T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2484887	NM_001042472.3(ABHD12):c.365T>G (p.Leu122Trp)	ABHD12 (L122W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310464	NM_001042472.3(ABHD12):c.287T>C (p.Ile96Thr)	ABHD12 (I96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130243	NM_001042472.3(ABHD12):c.239T>C (p.Leu80Ser)	ABHD12 (L80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494634	NM_001042472.3(ABHD12):c.181G>C (p.Ala61Pro)	ABHD12 (A61P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1226455	NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys)	ABHD12, LOC130065586 (R35C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1448947	NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser)	LOC130065586, ABHD12 (A32S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2249647	NM_001042472.3(ABHD12):c.74C>G (p.Ser25Trp)	ABHD12, LOC130065586 (S25W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130258	NM_001042472.3(ABHD12):c.70G>C (p.Gly24Arg)	ABHD12, LOC130065586 (G24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1037229	NM_001042472.3(ABHD12):c.70G>A (p.Gly24Ser)	ABHD12, LOC130065586 (G24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3317817	NM_001042472.3(ABHD12):c.68C>G (p.Ser23Cys)	ABHD12, LOC130065586 (S23C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317624	NM_001042472.3(ABHD12):c.29T>G (p.Leu10Trp)	ABHD12, LOC130065586 (L10W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406902	NM_001042472.3(ABHD12):c.25G>A (p.Ala9Thr)	ABHD12, LOC130065586 (A9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 36