ClinVar for Gene (Select 100101267) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308886	NM_001099415.3(POM121C):c.44G>T (p.Arg15Ile)	POM121C (R15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308885	NM_001099415.3(POM121C):c.1198A>C (p.Ile400Leu)	POM121C (I400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308884	NM_001099415.3(POM121C):c.1343C>G (p.Pro448Arg)	POM121C (P448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308883	NM_001099415.3(POM121C):c.2089T>C (p.Ser697Pro)	POM121C (S697P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308881	NM_001099415.3(POM121C):c.785T>C (p.Leu262Pro)	POM121C (L262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308880	NM_001099415.3(POM121C):c.1511C>T (p.Pro504Leu)	POM121C (P504L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308879	NM_001099415.3(POM121C):c.1336A>C (p.Thr446Pro)	POM121C (T446P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308878	NM_001099415.3(POM121C):c.746G>A (p.Arg249Gln)	POM121C (R249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308877	NM_001099415.3(POM121C):c.2078C>T (p.Ser693Phe)	POM121C (S693F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308876	NM_001099415.3(POM121C):c.2665G>A (p.Ala889Thr)	POM121C (A889T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308875	NM_001099415.3(POM121C):c.452C>T (p.Ser151Phe)	POM121C (S151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308873	NM_001099415.3(POM121C):c.740C>G (p.Pro247Arg)	POM121C (P247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239035	NM_001099415.3(POM121C):c.2862G>A (p.Pro954=)	POM121C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3216693	NM_001099415.3(POM121C):c.749G>A (p.Arg250Gln)	POM121C (R250Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216691	NM_001099415.3(POM121C):c.62C>T (p.Ala21Val)	POM121C (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216690	NM_001099415.3(POM121C):c.590A>G (p.His197Arg)	POM121C (H197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216689	NM_001099415.3(POM121C):c.541C>G (p.Gln181Glu)	POM121C (Q181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216688	NM_001099415.3(POM121C):c.428C>T (p.Ser143Phe)	POM121C (S143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216687	NM_001099415.3(POM121C):c.292G>T (p.Ala98Ser)	POM121C (A98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216686	NM_001099415.3(POM121C):c.290C>T (p.Pro97Leu)	POM121C (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216685	NM_001099415.3(POM121C):c.2724G>C (p.Glu908Asp)	POM121C (E908D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216684	NM_001099415.3(POM121C):c.2639C>T (p.Pro880Leu)	POM121C (P880L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216683	NM_001099415.3(POM121C):c.2639C>G (p.Pro880Arg)	POM121C (P880R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216682	NM_001099415.3(POM121C):c.2440A>G (p.Thr814Ala)	POM121C (T814A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216680	NM_001099415.3(POM121C):c.2386G>A (p.Gly796Ser)	POM121C (G796S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216679	NM_001099415.3(POM121C):c.2347G>A (p.Ala783Thr)	POM121C (A783T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216678	NM_001099415.3(POM121C):c.2318C>T (p.Ser773Leu)	POM121C (S773L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216677	NM_001099415.3(POM121C):c.2086C>T (p.Pro696Ser)	POM121C (P696S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216675	NM_001099415.3(POM121C):c.2035A>G (p.Ser679Gly)	POM121C (S679G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216674	NM_001099415.3(POM121C):c.1990G>A (p.Ala664Thr)	POM121C (A664T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216673	NM_001099415.3(POM121C):c.1378T>C (p.Ser460Pro)	POM121C (S460P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216672	NM_001099415.3(POM121C):c.1214T>G (p.Met405Arg)	POM121C (M405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216671	NM_001099415.3(POM121C):c.1144C>A (p.Leu382Met)	POM121C (L382M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216670	NM_001099415.3(POM121C):c.1112C>T (p.Pro371Leu)	POM121C (P371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216669	NM_001099415.3(POM121C):c.10A>G (p.Ser4Gly)	POM121C (S4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2657612	NM_001099415.3(POM121C):c.681G>A (p.Ser227=)	POM121C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657611	NM_001099415.3(POM121C):c.996G>T (p.Leu332=)	POM121C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657610	NM_001099415.3(POM121C):c.2283G>A (p.Thr761=)	POM121C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657609	NM_001099415.3(POM121C):c.2340G>A (p.Thr780=)	POM121C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617507	NM_001099415.3(POM121C):c.2428G>C (p.Gly810Arg)	POM121C (G810R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611066	NM_001099415.3(POM121C):c.1300G>A (p.Ala434Thr)	POM121C (A434T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605813	NM_001099415.3(POM121C):c.59C>T (p.Ser20Phe)	POM121C (S20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599374	NM_001099415.3(POM121C):c.2033C>G (p.Thr678Arg)	POM121C (T678R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591570	NM_001099415.3(POM121C):c.2107C>T (p.Pro703Ser)	POM121C (P703S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589922	NM_001099415.3(POM121C):c.2087C>T (p.Pro696Leu)	POM121C (P696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567488	NM_001099415.3(POM121C):c.437A>G (p.Asn146Ser)	POM121C (N146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560785	NM_001099415.3(POM121C):c.1323T>G (p.Phe441Leu)	POM121C (F441L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559108	NM_001099415.3(POM121C):c.481C>G (p.Leu161Val)	POM121C (L161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551212	NM_001099415.3(POM121C):c.2383G>T (p.Gly795Cys)	POM121C (G795C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545267	NM_001099415.3(POM121C):c.1096C>A (p.Pro366Thr)	POM121C (P366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532899	NM_001099415.3(POM121C):c.1886C>T (p.Thr629Ile)	POM121C (T629I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521043	NM_001099415.3(POM121C):c.2275G>A (p.Val759Met)	POM121C (V759M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516634	NM_001099415.3(POM121C):c.2798C>T (p.Ser933Leu)	POM121C (S933L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515340	NM_001099415.3(POM121C):c.2356G>A (p.Ala786Thr)	POM121C (A786T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511191	NM_001099415.3(POM121C):c.2812T>C (p.Ser938Pro)	POM121C (S938P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496275	NM_001099415.3(POM121C):c.1504A>G (p.Thr502Ala)	POM121C (T502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488865	NM_001099415.3(POM121C):c.121C>T (p.Pro41Ser)	POM121C (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484070	NM_001099415.3(POM121C):c.215A>G (p.Glu72Gly)	POM121C (E72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482297	NM_001099415.3(POM121C):c.2693C>T (p.Pro898Leu)	POM121C (P898L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474413	NM_001099415.3(POM121C):c.1064C>T (p.Ala355Val)	POM121C (A355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467452	NM_001099415.3(POM121C):c.848A>G (p.Asn283Ser)	POM121C (N283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409473	NM_001099415.3(POM121C):c.230G>A (p.Arg77His)	POM121C (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408729	NM_001099415.3(POM121C):c.95C>T (p.Ser32Leu)	POM121C (S32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402637	NM_001099415.3(POM121C):c.2623A>G (p.Thr875Ala)	POM121C (T875A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391451	NM_001099415.3(POM121C):c.1999A>C (p.Thr667Pro)	POM121C (T667P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390721	NM_001099415.3(POM121C):c.2263G>C (p.Val755Leu)	POM121C (V755L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384983	NM_001099415.3(POM121C):c.2152G>A (p.Ala718Thr)	POM121C (A718T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382583	NM_001099415.3(POM121C):c.2780C>T (p.Ala927Val)	POM121C (A927V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378743	NM_001099415.3(POM121C):c.409A>G (p.Thr137Ala)	POM121C (T137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374004	NM_001099415.3(POM121C):c.2362G>A (p.Ala788Thr)	POM121C (A788T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366271	NM_001099415.3(POM121C):c.1207C>T (p.Pro403Ser)	POM121C (P403S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365814	NM_001099415.3(POM121C):c.2071G>A (p.Ala691Thr)	POM121C (A691T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358562	NM_001099415.3(POM121C):c.229C>T (p.Arg77Cys)	POM121C (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356950	NM_001099415.3(POM121C):c.2260A>G (p.Ile754Val)	POM121C (I754V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2350212	NM_001099415.3(POM121C):c.1201C>T (p.Pro401Ser)	POM121C (P401S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346781	NM_001099415.3(POM121C):c.201C>G (p.Phe67Leu)	POM121C (F67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345384	NM_001099415.3(POM121C):c.1264G>A (p.Ala422Thr)	POM121C (A422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330016	NM_001099415.3(POM121C):c.356A>T (p.His119Leu)	POM121C (H119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327371	NM_001099415.3(POM121C):c.1183A>C (p.Thr395Pro)	POM121C (T395P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323762	NM_001099415.3(POM121C):c.1991C>T (p.Ala664Val)	POM121C (A664V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322677	NM_001099415.3(POM121C):c.689A>G (p.Gln230Arg)	POM121C (Q230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316873	NM_001099415.3(POM121C):c.1295C>A (p.Ser432Tyr)	POM121C (S432Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280696	NM_001099415.3(POM121C):c.1934C>T (p.Ala645Val)	POM121C (A645V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280000	NM_001099415.3(POM121C):c.1475G>A (p.Ser492Asn)	POM121C (S492N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271458	NM_001099415.3(POM121C):c.1468C>A (p.Pro490Thr)	POM121C (P490T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267101	NM_001099415.3(POM121C):c.2848G>A (p.Val950Ile)	POM121C (V950I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267100	NM_001099415.3(POM121C):c.107G>C (p.Ser36Thr)	POM121C (S36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266991	NM_001099415.3(POM121C):c.2272C>T (p.His758Tyr)	POM121C (H758Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263836	NM_001099415.3(POM121C):c.434G>A (p.Arg145His)	POM121C (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263835	NM_001099415.3(POM121C):c.341A>G (p.Gln114Arg)	POM121C (Q114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255783	NM_001099415.3(POM121C):c.2759C>A (p.Thr920Asn)	POM121C (T920N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253282	NM_001099415.3(POM121C):c.2081C>T (p.Pro694Leu)	POM121C (P694L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251846	NM_001099415.3(POM121C):c.11G>A (p.Ser4Asn)	POM121C (S4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251677	NM_001099415.3(POM121C):c.1333A>G (p.Asn445Asp)	POM121C (N445D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249679	NM_001099415.3(POM121C):c.1942A>C (p.Ser648Arg)	POM121C (S648R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231917	NM_001099415.3(POM121C):c.722G>A (p.Arg241Gln)	POM121C (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230607	NM_001099415.3(POM121C):c.2045C>T (p.Thr682Met)	POM121C (T682M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230329	NM_001099415.3(POM121C):c.2398G>A (p.Val800Ile)	POM121C (V800I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228203	NM_001099415.3(POM121C):c.2947C>T (p.His983Tyr)	POM121C (H983Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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