Related gene-specific medical variations 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 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 2841124	NM_001042472.3(ABHD12):c.191+16G>T	ABHD12, LOC130065585	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 2712417	NM_001042472.3(ABHD12):c.141G>T (p.Ala47=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 2134653	NM_001042472.3(ABHD12):c.76G>A (p.Ala26Thr)	ABHD12, LOC130065586 (A26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2098328	NM_001042472.3(ABHD12):c.653G>C (p.Arg218Pro)	ABHD12, LOC126863008 (R218P)	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 2085554	NM_001042472.3(ABHD12):c.747T>C (p.Thr249=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2050862	NM_001042472.3(ABHD12):c.57C>A (p.Gly19=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034731	NM_001042472.3(ABHD12):c.620-9C>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2007060	NM_001042472.3(ABHD12):c.191+18G>A	ABHD12, LOC130065585	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966701	NM_001042472.3(ABHD12):c.99C>T (p.Asp33=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955295	NM_001042472.3(ABHD12):c.15C>T (p.Thr5=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934554	NM_001042472.3(ABHD12):c.620-3C>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1931042	NM_001042472.3(ABHD12):c.620-15G>A	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917190	NM_001042472.3(ABHD12):c.71G>A (p.Gly24Asp)	ABHD12, LOC130065586 (G24D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916915	NM_001042472.3(ABHD12):c.620-11C>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914943	NM_001042472.3(ABHD12):c.707G>T (p.Gly236Val)	ABHD12, LOC126863008 (G236V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913508	NM_001042472.3(ABHD12):c.191+13del	ABHD12, LOC130065585	Deletion (intron variant)	not provided	GLikely benign
Select item 1801183	NM_001042472.3(ABHD12):c.39G>C (p.Glu13Asp)	ABHD12, LOC130065586 (E13D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701420	NM_001042472.3(ABHD12):c.18G>A (p.Glu6=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1640612	NM_001042472.3(ABHD12):c.191+20G>T	ABHD12, LOC130065585	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639348	NM_001042472.3(ABHD12):c.191+20G>C	ABHD12, LOC130065585	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624407	NM_001042472.3(ABHD12):c.63C>T (p.Ser21=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608813	NM_001042472.3(ABHD12):c.620-16C>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576875	NM_001042472.3(ABHD12):c.12G>T (p.Arg4=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566528	NM_001042472.3(ABHD12):c.9G>A (p.Lys3=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556933	NM_001042472.3(ABHD12):c.678C>T (p.His226=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551262	NM_001042472.3(ABHD12):c.129G>T (p.Thr43=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1548793	NM_001042472.3(ABHD12):c.749+11_749+12dup	ABHD12, LOC126863008	Duplication (intron variant)	not provided	GLikely benign
Select item 1529987	NM_001042472.3(ABHD12):c.27C>T (p.Ala9=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526361	NM_001042472.3(ABHD12):c.149C>T (p.Pro50Leu)	ABHD12, LOC130065586 (P50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519601	NM_001042472.3(ABHD12):c.22G>A (p.Val8Ile)	ABHD12, LOC130065586 (V8I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511583	NM_001042472.3(ABHD12):c.696A>G (p.Lys232=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497185	NM_001042472.3(ABHD12):c.62C>T (p.Ser21Phe)	ABHD12, LOC130065586 (S21F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497156	NM_001042472.3(ABHD12):c.733C>T (p.His245Tyr)	ABHD12, LOC126863008 (H245Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491408	NM_001042472.3(ABHD12):c.65C>T (p.Ser22Phe)	LOC130065586, ABHD12 (S22F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489888	NM_001042472.3(ABHD12):c.128C>T (p.Thr43Met)	ABHD12, LOC130065586 (T43M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474440	NM_001042472.3(ABHD12):c.47C>T (p.Ala16Val)	ABHD12, LOC130065586 (A16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462747	NM_001042472.3(ABHD12):c.106C>G (p.Leu36Val)	ABHD12, LOC130065586 (L36V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462411	NM_001042472.3(ABHD12):c.149C>A (p.Pro50Gln)	ABHD12, LOC130065586 (P50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448947	NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser)	ABHD12, LOC130065586 (A32S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1447291	NM_001042472.3(ABHD12):c.57C>T (p.Gly19=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1432598	NM_001042472.3(ABHD12):c.16G>C (p.Glu6Gln)	ABHD12, LOC130065586 (E6Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429666	NM_001042472.3(ABHD12):c.738_748del (p.Leu247fs)	ABHD12, LOC126863008 (L247fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1417061	NM_001042472.3(ABHD12):c.19C>T (p.Pro7Ser)	ABHD12, LOC130065586 (P7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417025	NM_001042472.3(ABHD12):c.88C>G (p.Leu30Val)	ABHD12, LOC130065586 (L30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411955	NM_001042472.3(ABHD12):c.85G>A (p.Ala29Thr)	ABHD12, LOC130065586 (A29T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406051	NM_001042472.3(ABHD12):c.157G>C (p.Ala53Pro)	ABHD12, LOC130065586 (A53P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390697	NM_001042472.3(ABHD12):c.121C>T (p.Arg41Cys)	ABHD12, LOC130065586 (R41C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379172	NM_001042472.3(ABHD12):c.65C>G (p.Ser22Cys)	ABHD12, LOC130065586 (S22C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361064	NM_001042472.3(ABHD12):c.132C>T (p.Gly44=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356753	NM_001042472.3(ABHD12):c.729G>A (p.Trp243Ter)	ABHD12, LOC126863008 (W243*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1347676	NM_001042472.3(ABHD12):c.53C>G (p.Ala18Gly)	ABHD12, LOC130065586 (A18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327789	NM_001042472.3(ABHD12):c.191+34_191+35dup	ABHD12, LOC130065585	Duplication (intron variant)	not provided	GLikely benign
Select item 1322604	NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter)	ABHD12 (Q339*)	Single nucleotide variant (nonsense)	PHARC syndrome	GPathogenic
Select item 1292497	NM_001042472.3(ABHD12):c.191+36C>G	ABHD12, LOC130065585	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289125	NM_001042472.3(ABHD12):c.-48G>A	ABHD12, LOC130065586	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 1275559	NM_001042472.3(ABHD12):c.191+24G>T	ABHD12, LOC130065585	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271914	NM_001042472.3(ABHD12):c.749+205C>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	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 1265863	NM_001042472.3(ABHD12):c.191+17A>G	ABHD12, LOC130065585	Single nucleotide variant (intron variant)	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 1242476	NM_001042472.3(ABHD12):c.620-332A>G	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237287	NM_001042472.3(ABHD12):c.620-301G>T	ABHD12, LOC126863008	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 1228457	NM_001042472.3(ABHD12):c.191+14C>G	ABHD12, LOC130065585	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 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

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