26090[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 155473	GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3	LOC130065583, LOC130065584 +45 more	Copy number gain	See cases	GUncertain significance
Select item 58970	GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3	ABHD12, ENTPD6 +31 more	Copy number gain	See cases	GUncertain significance
Select item 58971	GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3	ABHD12, ENTPD6 +30 more	Copy number gain	See cases	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 1280514	NM_015600.5(ABHD12):c.*44AACTAA[1]	ABHD12, PYGB	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3036409	NC_000020.11:g.25294968T>C	ABHD12, PYGB	Single nucleotide variant (3 prime UTR variant +1 more)	ABHD12-related disorder	GLikely benign
Select item 1228212	NM_015600.5(ABHD12):c.1207C>T (p.Leu403=)	ABHD12, PYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1269367	NM_015600.5(ABHD12):c.1203A>G (p.Ser401=)	ABHD12, PYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2498882	NM_015600.5(ABHD12):c.1196T>C (p.Met399Thr)	ABHD12, PYGB (M399T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3041643	NM_015600.5(ABHD12):c.1158-8T>C	ABHD12, PYGB	Single nucleotide variant (intron variant)	ABHD12-related disorder	GLikely benign
Select item 1215967	NM_015600.5(ABHD12):c.1158-92del	PYGB, ABHD12	Deletion (intron variant)	not provided	GLikely benign
Select item 1252428	NM_015600.5(ABHD12):c.1158-129G>C	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244763	NM_015600.5(ABHD12):c.1158-177G>A	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221566	NM_015600.5(ABHD12):c.1158-204T>C	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231287	NM_015600.5(ABHD12):c.1158-224G>T	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
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)	ABHD12, PYGB (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 369354	NM_015600.5(ABHD12):c.1157+2023C>T	ABHD12	Single nucleotide variant (intron variant)	PHARC syndrome	GUncertain significance
Select item 897013	NM_001042472.3(ABHD12):c.*541G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 337980	NM_001042472.3(ABHD12):c.*454G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 337981	NM_001042472.3(ABHD12):c.*414del	ABHD12	Deletion (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 337982	NM_001042472.3(ABHD12):c.*377C>T	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 337983	NM_001042472.3(ABHD12):c.*353G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 897494	NM_001042472.3(ABHD12):c.*331G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 897493	NM_001042472.3(ABHD12):c.*331G>C	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 337985	NM_001042472.3(ABHD12):c.*321G>T	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GBenign
Select item 337984	NM_001042472.3(ABHD12):c.320_321del	ABHD12	Deletion (intron variant +1 more)	PHARC syndrome	GLikely benign
Select item 337986	NM_001042472.3(ABHD12):c.*297C>G	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome +1 more	GBenign
Select item 898648	NM_001042472.3(ABHD12):c.*177C>T	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 898649	NM_001042472.3(ABHD12):c.*149G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 337987	NM_001042472.3(ABHD12):c.*148C>T	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 337988	NM_001042472.3(ABHD12):c.*83G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 337989	NM_001042472.3(ABHD12):c.*45G>C	ABHD12	Single nucleotide variant (intron variant +1 more)	PHARC syndrome	GUncertain significance
Select item 898650	NM_001042472.3(ABHD12):c.*22A>G	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1215096	NM_001042472.3(ABHD12):c.*13G>T	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 939168	NM_001042472.3(ABHD12):c.1195_1196del (p.Ter399SerextTer?)	ABHD12	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 963324	NM_001042472.3(ABHD12):c.1195T>C (p.Ter399Arg)	ABHD12	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
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 954047	NM_001042472.3(ABHD12):c.1190A>G (p.Gln397Arg)	ABHD12 (Q397R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 191159	NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter)	ABHD12 (Q397*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 668427	NM_001042472.3(ABHD12):c.1185G>A (p.Glu395=)	ABHD12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1483072	NM_001042472.3(ABHD12):c.1183G>A (p.Glu395Lys)	ABHD12 (E395K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 337990	NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=)	ABHD12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 3339092	NM_001042472.3(ABHD12):c.1170dup (p.Lys391fs)	ABHD12 (K391fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
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 2772770	NM_001042472.3(ABHD12):c.1158-5dup	ABHD12	Duplication (intron variant)	not provided	GLikely benign
Select item 1151883	NM_001042472.3(ABHD12):c.1158-6G>T	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1438935	NM_001042472.3(ABHD12):c.1158-8del	ABHD12	Deletion (intron variant)	not provided	GLikely benign
Select item 1201561	NM_001042472.3(ABHD12):c.1158-98G>A	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225388	NM_001042472.3(ABHD12):c.1158-213A>G	ABHD12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276966	NM_001042472.3(ABHD12):c.1158-314C>G	ABHD12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177787	NM_001042472.3(ABHD12):c.1157+327A>G	ABHD12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239691	NM_001042472.3(ABHD12):c.1157+247A>G	ABHD12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245751	NM_001042472.3(ABHD12):c.1157+229A>C	ABHD12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179513	NM_001042472.3(ABHD12):c.1157+214C>T	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178064	NM_001042472.3(ABHD12):c.1157+102G>A	ABHD12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723176	NM_001042472.3(ABHD12):c.1157+3G>C	ABHD12	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 941481	NM_001042472.3(ABHD12):c.1157+3G>A	ABHD12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1064344	NM_001042472.3(ABHD12):c.1157G>A (p.Arg386Lys)	ABHD12 (R386K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460761	NM_001042472.3(ABHD12):c.1156A>C (p.Arg386=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 960335	NM_001042472.3(ABHD12):c.1148G>A (p.Arg383Gln)	ABHD12 (R383Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1365099	NM_001042472.3(ABHD12):c.1144C>T (p.Pro382Ser)	ABHD12 (P382S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1148074	NM_001042472.3(ABHD12):c.1143G>C (p.Leu381=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 286962	NM_001042472.3(ABHD12):c.1141C>T (p.Leu381=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1524584	NM_001042472.3(ABHD12):c.1138G>T (p.Glu380Ter)	ABHD12 (E380*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3008842	NM_001042472.3(ABHD12):c.1134C>T (p.Ser378=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 862615	NM_001042472.3(ABHD12):c.1131G>C (p.Lys377Asn)	ABHD12 (K377N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736957	NM_001042472.3(ABHD12):c.1129A>T (p.Lys377Ter)	ABHD12 (K377*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 545443	NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del)	ABHD12	Deletion (inframe_deletion)	PHARC syndrome	GLikely pathogenic
Select item 1380411	NM_001042472.3(ABHD12):c.1122C>A (p.Tyr374Ter)	ABHD12 (Y374*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 143235	NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln)	ABHD12 (H372Q)	Single nucleotide variant (missense variant)	PHARC syndrome	GPathogenic
Select item 835901	NM_001042472.3(ABHD12):c.1114C>T (p.His372Tyr)	ABHD12 (H372Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194016	NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2021226	NM_001042472.3(ABHD12):c.1110C>T (p.Tyr370=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092089	NM_001042472.3(ABHD12):c.1104T>C (p.Leu368=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918567	NM_001042472.3(ABHD12):c.1099G>T (p.Asp367Tyr)	ABHD12 (D367Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441956	NM_001042472.3(ABHD12):c.1092_1093insA (p.His365fs)	ABHD12 (H365fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 503776	NM_001042472.3(ABHD12):c.1092dup (p.His365fs)	ABHD12 (H365fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 720825	NM_001042472.3(ABHD12):c.1092T>C (p.Phe364=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2075987	NM_001042472.3(ABHD12):c.1086G>A (p.Val362=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931102	NM_001042472.3(ABHD12):c.1083T>C (p.Phe361=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1008779	NM_001042472.3(ABHD12):c.1075G>A (p.Val359Ile)	ABHD12 (V359I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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