ClinVar for Gene (Select 5834) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150208	NM_002862.4(PYGB):c.98A>G (p.Asn33Ser)	PYGB (N33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150207	NM_002862.4(PYGB):c.793G>A (p.Glu265Lys)	PYGB (E265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150206	NM_002862.4(PYGB):c.701A>G (p.Tyr234Cys)	PYGB (Y234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150204	NM_002862.4(PYGB):c.473A>G (p.Tyr158Cys)	PYGB (Y158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150203	NM_002862.4(PYGB):c.281G>A (p.Arg94His)	PYGB (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150202	NM_002862.4(PYGB):c.280C>T (p.Arg94Cys)	PYGB (R94C)	Single nucleotide variant (missense variant)	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 3150200	NM_002862.4(PYGB):c.245G>A (p.Arg82His)	PYGB (R82H)	Single nucleotide variant (missense variant)	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 3150197	NM_002862.4(PYGB):c.2255C>T (p.Ser752Phe)	PYGB (S752F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150196	NM_002862.4(PYGB):c.2119G>A (p.Glu707Lys)	PYGB (E707K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150195	NM_002862.4(PYGB):c.2113G>A (p.Gly705Arg)	PYGB (G705R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150194	NM_002862.4(PYGB):c.1981G>A (p.Ala661Thr)	PYGB (A661T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150192	NM_002862.4(PYGB):c.1923G>T (p.Leu641Phe)	PYGB (L641F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150191	NM_002862.4(PYGB):c.1897C>T (p.His633Tyr)	PYGB (H633Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150190	NM_002862.4(PYGB):c.1874C>A (p.Thr625Asn)	PYGB (T625N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150189	NM_002862.4(PYGB):c.1832C>T (p.Ala611Val)	PYGB (A611V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150188	NM_002862.4(PYGB):c.1300G>A (p.Glu434Lys)	PYGB (E434K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150187	NM_002862.4(PYGB):c.1216G>T (p.Ala406Ser)	PYGB (A406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150186	NM_002862.4(PYGB):c.114C>A (p.Phe38Leu)	PYGB (F38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2617510	NM_002862.4(PYGB):c.16A>C (p.Thr6Pro)	LOC130065577, PYGB (T6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605876	NM_002862.4(PYGB):c.434T>C (p.Leu145Pro)	PYGB (L145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605849	NM_002862.4(PYGB):c.1954T>C (p.Ser652Pro)	PYGB (S652P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557388	NM_002862.4(PYGB):c.2032G>T (p.Gly678Cys)	PYGB (G678C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555696	NM_002862.4(PYGB):c.131G>A (p.Arg44His)	PYGB (R44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542802	NM_002862.4(PYGB):c.454G>T (p.Gly152Cys)	PYGB (G152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542457	NM_002862.4(PYGB):c.1547T>C (p.Leu516Pro)	PYGB (L516P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538069	NM_002862.4(PYGB):c.1454A>G (p.Asn485Ser)	PYGB (N485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537356	NM_002862.4(PYGB):c.174C>G (p.His58Gln)	LOC130065578, PYGB (H58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521517	NM_002862.4(PYGB):c.986C>T (p.Thr329Met)	PYGB (T329M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518886	NM_002862.4(PYGB):c.1838G>A (p.Gly613Asp)	PYGB (G613D)	Single nucleotide variant (missense variant)	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 2484225	NM_002862.4(PYGB):c.808C>T (p.Arg270Trp)	PYGB (R270W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463661	NM_002862.4(PYGB):c.1315C>T (p.Arg439Trp)	PYGB (R439W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423578	NC_000020.10:g.(?_25056897)_(25320007_?)dup	ABHD12, ENTPD6 +2 more	Duplication	not provided	GUncertain significance
Select item 2403583	NM_002862.4(PYGB):c.708C>G (p.Asn236Lys)	PYGB (N236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393630	NM_002862.4(PYGB):c.1243G>A (p.Val415Met)	PYGB (V415M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386305	NM_002862.4(PYGB):c.10C>T (p.Pro4Ser)	LOC130065577, PYGB (P4S)	Single nucleotide variant (missense variant)	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 2373797	NM_002862.4(PYGB):c.2173A>G (p.Lys725Glu)	PYGB (K725E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371422	NM_002862.4(PYGB):c.619G>A (p.Val207Met)	PYGB (V207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366581	NM_002862.4(PYGB):c.1274G>A (p.Arg425His)	PYGB (R425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358069	NM_002862.4(PYGB):c.2086G>A (p.Ala696Thr)	PYGB (A696T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351953	NM_002862.4(PYGB):c.1813A>C (p.Met605Leu)	PYGB (M605L)	Single nucleotide variant (missense variant)	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 2338171	NM_002862.4(PYGB):c.2015C>G (p.Thr672Ser)	PYGB (T672S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333373	NM_002862.4(PYGB):c.619G>T (p.Val207Leu)	PYGB (V207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326705	NM_002862.4(PYGB):c.590A>G (p.Tyr197Cys)	PYGB (Y197C)	Single nucleotide variant (missense variant)	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 2315475	NM_002862.4(PYGB):c.2197T>C (p.Tyr733His)	PYGB (Y733H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308048	NM_002862.4(PYGB):c.22A>T (p.Ser8Cys)	PYGB (S8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285808	NM_002862.4(PYGB):c.442A>G (p.Met148Val)	PYGB (M148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278193	NM_002862.4(PYGB):c.746C>T (p.Ala249Val)	PYGB (A249V)	Single nucleotide variant (missense variant)	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 2268808	NM_002862.4(PYGB):c.1229G>A (p.Arg410Gln)	PYGB (R410Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255342	NM_002862.4(PYGB):c.1273C>T (p.Arg425Cys)	PYGB (R425C)	Single nucleotide variant (missense variant)	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 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 2236650	NM_002862.4(PYGB):c.88A>C (p.Lys30Gln)	PYGB (K30Q)	Single nucleotide variant (missense variant)	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 1809464	GRCh37/hg19 20p11.21-11.1(chr20:25208244-25734692)x3	ABHD12, GINS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1526689	GRCh37/hg19 20p11.21(chr20:25061392-25482415)	ABHD12, ENTPD6 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1280514	NM_002862.4(PYGB):c.2312+634_2312+639del	ABHD12, PYGB	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1269367	NM_002862.4(PYGB):c.2313-619T>C	ABHD12, PYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1252428	NM_002862.4(PYGB):c.2313-445C>G	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244763	NM_002862.4(PYGB):c.2313-397C>T	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231287	NM_002862.4(PYGB):c.2313-350C>A	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228212	NM_002862.4(PYGB):c.2313-623G>A	ABHD12, PYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1221566	NM_002862.4(PYGB):c.2313-370A>G	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215967	NM_002862.4(PYGB):c.2313-481del	ABHD12, PYGB	Deletion (intron variant)	not provided	GLikely benign
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 769084	NM_002862.4(PYGB):c.1245G>A (p.Val415=)	PYGB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735387	NM_002862.4(PYGB):c.1977G>A (p.Pro659=)	PYGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718469	NM_002862.4(PYGB):c.170C>G (p.Ala57Gly)	PYGB (A57G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713734	NM_002862.4(PYGB):c.2312+9G>A	PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713733	NM_002862.4(PYGB):c.540C>T (p.Ala180=)	PYGB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686745	GRCh37/hg19 20p11.21(chr20:24232978-25520939)x3	ABHD12, ACSS1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 599544	NM_002862.4(PYGB):c.2047A>G (p.Met683Val)	PYGB (M683V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 564627	GRCh37/hg19 20p11.21(chr20:25061392-25482415)x3	ABHD12, PYGB +4 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 253759	GRCh37/hg19 20p11.21-11.1(chr20:25039251-26067042)x3	NINL, VSX1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 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 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic

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