ClinVar for Gene (Select 26090) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3130243	NM_001042472.3(ABHD12):c.239T>C (p.Leu80Ser)	ABHD12 (L80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043530	NM_001042472.3(ABHD12):c.432C>G (p.Val144=)	ABHD12	Single nucleotide variant (synonymous variant)	ABHD12-related disorder	GLikely benign
Select item 3041643	NM_002862.4(PYGB):c.2313-566A>G	ABHD12, PYGB	Single nucleotide variant (intron variant)	ABHD12-related disorder	GLikely benign
Select item 3041038	NM_001042472.3(ABHD12):c.429C>T (p.Thr143=)	ABHD12	Single nucleotide variant (synonymous variant)	ABHD12-related disorder	GLikely benign
Select item 3036409	NM_002862.4(PYGB):c.2313-636T>C	ABHD12, PYGB	Single nucleotide variant (3 prime UTR variant +1 more)	ABHD12-related disorder	GLikely benign
Select item 3009552	NM_001042472.3(ABHD12):c.318A>G (p.Val106=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008842	NM_001042472.3(ABHD12):c.1134C>T (p.Ser378=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008770	NM_001042472.3(ABHD12):c.422+5G>A	ABHD12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986826	NM_001042472.3(ABHD12):c.951-20G>A	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966969	NM_001042472.3(ABHD12):c.750-2A>G	ABHD12	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2960190	NM_001042472.3(ABHD12):c.868-17T>G	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880614	NM_001042472.3(ABHD12):c.1030-10C>T	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877351	NM_001042472.3(ABHD12):c.978C>T (p.Leu326=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876127	NM_001042472.3(ABHD12):c.350dup (p.Gln118fs)	ABHD12 (Q118fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2841124	NM_001042472.3(ABHD12):c.191+16G>T	ABHD12, LOC130065585	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839551	NM_001042472.3(ABHD12):c.976C>T (p.Leu326Phe)	ABHD12 (L326F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831651	NM_001042472.3(ABHD12):c.471G>A (p.Gln157=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829550	NM_001042472.3(ABHD12):c.423-7T>C	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817222	NM_001042472.3(ABHD12):c.620-20C>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807092	NM_001042472.3(ABHD12):c.648T>C (p.Ser216=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787117	NM_001042472.3(ABHD12):c.78dup (p.Ala27fs)	ABHD12, LOC130065586 (A27fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2784456	NM_001042472.3(ABHD12):c.750-15T>C	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778954	NM_001042472.3(ABHD12):c.1030-7T>C	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772770	NM_001042472.3(ABHD12):c.1158-5dup	ABHD12	Duplication (intron variant)	not provided	GLikely benign
Select item 2772552	NM_001042472.3(ABHD12):c.750-6T>G	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736957	NM_001042472.3(ABHD12):c.1129A>T (p.Lys377Ter)	ABHD12 (K377*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2732343	NM_001042472.3(ABHD12):c.171A>G (p.Gly57=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712417	NM_001042472.3(ABHD12):c.141G>T (p.Ala47=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695644	NM_001042472.3(ABHD12):c.775C>T (p.Leu259Phe)	ABHD12 (L259F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695542	NM_001042472.3(ABHD12):c.671C>G (p.Ala224Gly)	ABHD12, LOC126863008 (A224G)	Single nucleotide variant (missense variant)	not provided	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 2499655	GRCh38/hg38 20p11.21(chr20:25121080-25485829)	ABHD12, ENTPD6 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2498882	NM_002862.4(PYGB):c.2313-612A>G	ABHD12, PYGB (M399T)	Single nucleotide variant (missense variant +1 more)	not provided	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 2484887	NM_001042472.3(ABHD12):c.365T>G (p.Leu122Trp)	ABHD12 (L122W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430761	NM_001042472.3(ABHD12):c.348dup (p.Pro117fs)	ABHD12 (P117fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2430743	NM_001042472.3(ABHD12):c.194G>A (p.Arg65Gln)	ABHD12 (R65Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426655	NC_000020.10:g.(?_25319843)_(25388551_?)del	ABHD12, GINS1	Deletion	not provided	GUncertain significance
Select item 2423579	NC_000020.10:g.(?_25295541)_(25300974_?)del	ABHD12	Deletion	not provided	GPathogenic
Select item 2423578	NC_000020.10:g.(?_25056897)_(25320007_?)dup	ABHD12, ENTPD6 +2 more	Duplication	not provided	GUncertain significance
Select item 2423577	NC_000020.10:g.(?_25290062)_(25297734_?)del	ABHD12	Deletion	not provided	GPathogenic
Select item 2423576	NC_000020.10:g.(?_25281481)_(25284284_?)del	ABHD12	Deletion	not provided	GUncertain significance
Select item 2423575	NC_000020.10:g.(?_25319843)_(25426627_?)del	ABHD12, GINS1	Deletion	not provided	GPathogenic
Select item 2423574	NC_000020.10:g.(?_25300815)_(25300974_?)del	ABHD12	Deletion	not provided	GPathogenic
Select item 2420924	NM_001042472.3(ABHD12):c.158C>T (p.Ala53Val)	ABHD12, LOC130065586 (A53V)	Single nucleotide variant (missense variant)	not provided	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
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 2339636	NM_002862.4(PYGB):c.2438C>T (p.Ser813Phe)	ABHD12, PYGB (S813F)	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 2310464	NM_001042472.3(ABHD12):c.287T>C (p.Ile96Thr)	ABHD12 (I96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 2164200	NM_001042472.3(ABHD12):c.69C>T (p.Ser23=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152327	NM_001042472.3(ABHD12):c.1192C>T (p.His398Tyr)	ABHD12 (H398Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2134653	NM_001042472.3(ABHD12):c.76G>A (p.Ala26Thr)	ABHD12, LOC130065586 (A26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133707	NM_001042472.3(ABHD12):c.770G>A (p.Arg257Gln)	ABHD12 (R257Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132614	NM_001042472.3(ABHD12):c.774C>T (p.Arg258=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130312	NM_001042472.3(ABHD12):c.912T>C (p.Pro304=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129146	NM_001042472.3(ABHD12):c.126dup (p.Thr43fs)	ABHD12, LOC130065586 (T43fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2125183	NM_001042472.3(ABHD12):c.666T>C (p.Tyr222=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124296	NM_001042472.3(ABHD12):c.82G>A (p.Ala28Thr)	ABHD12, LOC130065586 (A28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118599	NM_001042472.3(ABHD12):c.619+8T>G	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118528	NM_001042472.3(ABHD12):c.422+16C>T	ABHD12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2114823	NM_001042472.3(ABHD12):c.894C>G (p.Asp298Glu)	ABHD12 (D298E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113214	NM_001042472.3(ABHD12):c.1029+1G>T	ABHD12	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2110493	NM_001042472.3(ABHD12):c.687C>G (p.Asp229Glu)	ABHD12, LOC126863008 (D229E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103642	NM_001042472.3(ABHD12):c.669C>T (p.Asp223=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101443	NM_001042472.3(ABHD12):c.573+13A>G	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098328	NM_001042472.3(ABHD12):c.653G>C (p.Arg218Pro)	ABHD12, LOC126863008 (R218P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095168	NM_001042472.3(ABHD12):c.868-8G>A	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093635	NM_001042472.3(ABHD12):c.547G>A (p.Gly183Ser)	ABHD12 (G183S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092089	NM_001042472.3(ABHD12):c.1104T>C (p.Leu368=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089564	NM_001042472.3(ABHD12):c.191G>A (p.Arg64Lys)	ABHD12 (R64K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089526	NM_001042472.3(ABHD12):c.230T>C (p.Phe77Ser)	ABHD12 (F77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086517	NM_001042472.3(ABHD12):c.59C>T (p.Ser20Leu)	ABHD12, LOC130065586 (S20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085883	NM_001042472.3(ABHD12):c.275T>G (p.Leu92Arg)	ABHD12 (L92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085554	NM_001042472.3(ABHD12):c.747T>C (p.Thr249=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082304	NM_001042472.3(ABHD12):c.574-3C>A	ABHD12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2081438	NM_001042472.3(ABHD12):c.717C>T (p.Pro239=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079619	NM_001042472.3(ABHD12):c.699A>C (p.Ala233=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075987	NM_001042472.3(ABHD12):c.1086G>A (p.Val362=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075945	NM_001042472.3(ABHD12):c.1159G>A (p.Glu387Lys)	ABHD12 (E387K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067126	NM_001042472.3(ABHD12):c.316+17C>T	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066645	NM_001042472.3(ABHD12):c.979A>G (p.Ile327Val)	ABHD12 (I327V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062670	NM_001042472.3(ABHD12):c.316+13T>C	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050862	NM_001042472.3(ABHD12):c.57C>A (p.Gly19=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037029	NM_001042472.3(ABHD12):c.347_348delinsG (p.Lys116fs)	ABHD12 (K116fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2034731	NM_001042472.3(ABHD12):c.620-9C>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034562	NM_001042472.3(ABHD12):c.490T>C (p.Leu164=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023073	NM_001042472.3(ABHD12):c.317-13_317-12del	ABHD12	Deletion (intron variant)	not provided	GLikely benign
Select item 2021445	NM_001042472.3(ABHD12):c.750-23_750-19del	ABHD12	Deletion (intron variant)	not provided	GLikely benign
Select item 2021226	NM_001042472.3(ABHD12):c.1110C>T (p.Tyr370=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010169	NM_001042472.3(ABHD12):c.423-12T>G	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign

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