"Ambry Genetics"[submitter] AND "OTOGL"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 115

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291136	NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr)	OTOGL (P3T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2274664	NM_001378609.3(OTOGL):c.55C>T (p.His19Tyr)	OTOGL (H19Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542369	NM_001378609.3(OTOGL):c.78A>T (p.Gln26His)	OTOGL (Q26H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330456	NM_001378609.3(OTOGL):c.115T>C (p.Ser39Pro)	OTOGL (S39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1211910	NM_001378609.3(OTOGL):c.124G>A (p.Gly42Arg)	OTOGL (G42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 504841	NM_001378609.3(OTOGL):c.214T>C (p.Trp72Arg)	OTOGL (W63R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1335829	NM_001378609.3(OTOGL):c.283G>A (p.Gly95Arg)	OTOGL (G95R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2357855	NM_001378609.3(OTOGL):c.293A>G (p.Asp98Gly)	OTOGL (D98G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2613954	NM_001378609.3(OTOGL):c.324A>T (p.Arg108Ser)	OTOGL (R108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540707	NM_001378609.3(OTOGL):c.345G>T (p.Met115Ile)	OTOGL (M115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295317	NM_001378609.3(OTOGL):c.442A>G (p.Ile148Val)	OTOGL (I148V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930164	NM_001378609.3(OTOGL):c.454G>T (p.Asp152Tyr)	OTOGL (D152Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 504842	NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp)	OTOGL (R150W +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2386791	NM_001378609.3(OTOGL):c.575G>A (p.Arg192Gln)	OTOGL (R192Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604330	NM_001378609.3(OTOGL):c.741G>C (p.Glu247Asp)	OTOGL (E247D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605610	NM_001378609.3(OTOGL):c.763G>C (p.Gly255Arg)	OTOGL (G255R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281626	NM_001378609.3(OTOGL):c.815A>T (p.Gln272Leu)	OTOGL (Q272L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 504844	NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu)	OTOGL (S278L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2207864	NM_001378609.3(OTOGL):c.899C>T (p.Pro300Leu)	OTOGL (P300L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 226977	NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu)	OTOGL (P297L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2368935	NM_001378609.3(OTOGL):c.967A>C (p.Ile323Leu)	OTOGL (I323L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303797	NM_001378609.3(OTOGL):c.1021T>C (p.Tyr341His)	OTOGL (Y341H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2516174	NM_001378609.3(OTOGL):c.1094A>T (p.Tyr365Phe)	OTOGL (Y365F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390345	NM_001378609.3(OTOGL):c.1139G>A (p.Arg380Lys)	OTOGL (R380K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510588	NM_001378609.3(OTOGL):c.1150C>G (p.Pro384Ala)	OTOGL (P384A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528581	NM_001378609.3(OTOGL):c.1156T>C (p.Cys386Arg)	OTOGL (C386R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389443	NM_001378609.3(OTOGL):c.1187A>G (p.His396Arg)	OTOGL (H396R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1502340	NM_001378609.3(OTOGL):c.1189C>T (p.Arg397Trp)	OTOGL (R397W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1405224	NM_001378609.3(OTOGL):c.1262T>C (p.Leu421Pro)	OTOGL (L421P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 715652	NM_001378609.3(OTOGL):c.1284T>A (p.Asp428Glu)	OTOGL (D419E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2240891	NM_001378609.3(OTOGL):c.1433A>G (p.Asp478Gly)	OTOGL (D478G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556550	NM_001378609.3(OTOGL):c.1518A>C (p.Gln506His)	OTOGL (Q506H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530687	NM_001378609.3(OTOGL):c.1541G>A (p.Gly514Glu)	OTOGL (G514E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591262	NM_001378609.3(OTOGL):c.1825G>A (p.Ala609Thr)	OTOGL (A609T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187794	NM_001378609.3(OTOGL):c.1835G>A (p.Arg612Lys)	OTOGL (R612K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2253183	NM_001378609.3(OTOGL):c.1906A>G (p.Ile636Val)	OTOGL (I636V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501869	NM_001378609.3(OTOGL):c.1930G>A (p.Ala644Thr)	OTOGL (A644T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 930130	NM_001378609.3(OTOGL):c.1957T>G (p.Cys653Gly)	OTOGL (C653G)	Single nucleotide variant (missense variant)	OTOGL-related condition +3 more	GLikely benign
Select item 1182446	NM_001378609.3(OTOGL):c.1981G>A (p.Val661Met)	OTOGL (V661M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2216952	NM_001378609.3(OTOGL):c.1987G>C (p.Asp663His)	OTOGL (D663H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 226931	NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser)	OTOGL (P655S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2293966	NM_001378609.3(OTOGL):c.2051A>C (p.Glu684Ala)	OTOGL (E684A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521055	NM_001378609.3(OTOGL):c.2152C>T (p.Leu718Phe)	OTOGL (L718F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244298	NM_001378609.3(OTOGL):c.2188G>A (p.Val730Ile)	OTOGL (V730I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2187823	NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser)	OTOGL (F757S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2617239	NM_001378609.3(OTOGL):c.2275C>A (p.Leu759Ile)	OTOGL (L759I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2174973	NM_001378609.3(OTOGL):c.2282C>A (p.Ser761Tyr)	OTOGL (S761Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2494877	NM_001378609.3(OTOGL):c.2327C>T (p.Ala776Val)	OTOGL (A776V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331113	NM_001378609.3(OTOGL):c.2369C>A (p.Thr790Asn)	OTOGL (T790N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2318605	NM_001378609.3(OTOGL):c.2395C>T (p.His799Tyr)	OTOGL (H799Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609500	NM_001378609.3(OTOGL):c.2414G>A (p.Arg805Lys)	OTOGL (R805K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474616	NM_001378609.3(OTOGL):c.2437G>A (p.Glu813Lys)	OTOGL (E813K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 227815	NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu)	OTOGL (S810L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2446188	NM_001378609.3(OTOGL):c.2761G>A (p.Glu921Lys)	OTOGL (E921K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805111	NM_001378609.3(OTOGL):c.2791G>A (p.Val931Ile)	OTOGL (V922I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2570218	NM_001378609.3(OTOGL):c.2895C>G (p.Asp965Glu)	OTOGL (D965E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610499	NM_001378609.3(OTOGL):c.3181A>G (p.Thr1061Ala)	OTOGL (T1061A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 291138	NM_001378609.3(OTOGL):c.3213+1G>A	OTOGL	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 2239110	NM_001378609.3(OTOGL):c.3220C>A (p.Leu1074Ile)	OTOGL (L1074I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905668	NM_001378609.3(OTOGL):c.3226G>A (p.Gly1076Arg)	OTOGL (G1076R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2356631	NM_001378609.3(OTOGL):c.3301C>T (p.Arg1101Trp)	OTOGL (R1056W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326179	NM_001378609.3(OTOGL):c.3322G>A (p.Ala1108Thr)	OTOGL (A1063T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1434343	NM_001378609.3(OTOGL):c.3361C>T (p.Pro1121Ser)	OTOGL (P1076S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2320003	NM_001378609.3(OTOGL):c.3386T>G (p.Phe1129Cys)	OTOGL (F1129C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531749	NM_001378609.3(OTOGL):c.3422G>C (p.Ser1141Thr)	OTOGL (S1096T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 226942	NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val)	OTOGL (I1134V +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 504848	NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val)	OTOGL (A1136V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2228957	NM_001378609.3(OTOGL):c.3532A>G (p.Thr1178Ala)	OTOGL (T1133A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1429409	NM_001378609.3(OTOGL):c.3557A>G (p.Lys1186Arg)	OTOGL (K1141R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 504850	NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg)	OTOGL (Q1180R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2225649	NM_001378609.3(OTOGL):c.3568G>A (p.Glu1190Lys)	OTOGL (E1190K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620597	NM_001378609.3(OTOGL):c.3628A>G (p.Asn1210Asp)	OTOGL (N1165D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1386760	NM_001378609.3(OTOGL):c.3653A>G (p.Tyr1218Cys)	OTOGL (Y1173C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 715653	NM_001378609.3(OTOGL):c.3742C>G (p.His1248Asp)	OTOGL (H1239D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2488472	NM_001378609.3(OTOGL):c.3809C>A (p.Ala1270Glu)	OTOGL (A1225E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346330	NM_001378609.3(OTOGL):c.3887T>G (p.Leu1296Arg)	OTOGL (L1251R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333073	NM_001378609.3(OTOGL):c.3934C>T (p.His1312Tyr)	OTOGL (H1267Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2607243	NM_001378609.3(OTOGL):c.4144C>A (p.Pro1382Thr)	OTOGL (P1337T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327935	NM_001378609.3(OTOGL):c.4167C>A (p.Asp1389Glu)	OTOGL (D1344E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 505424	NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr)	OTOGL (N1402Y +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2270626	NM_001378609.3(OTOGL):c.4246G>A (p.Glu1416Lys)	OTOGL (E1371K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1372006	NM_001378609.3(OTOGL):c.4603C>T (p.Arg1535Trp)	OTOGL (R1490W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1314903	NM_001378609.3(OTOGL):c.4795T>C (p.Cys1599Arg)	OTOGL (C1554R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227824	NM_001378609.3(OTOGL):c.4906G>A (p.Glu1636Lys)	OTOGL (E1627K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1254782	NM_001378609.3(OTOGL):c.4976C>T (p.Ser1659Phe)	OTOGL (S1614F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2471393	NM_001378609.3(OTOGL):c.5065G>T (p.Asp1689Tyr)	OTOGL (D1644Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517013	NM_001378609.3(OTOGL):c.5123T>C (p.Ile1708Thr)	OTOGL (I1663T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608684	NM_001378609.3(OTOGL):c.5188A>G (p.Arg1730Gly)	OTOGL (R1730G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 667301	NM_001378609.3(OTOGL):c.5273C>T (p.Pro1758Leu)	OTOGL (P1749L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2480107	NM_001378609.3(OTOGL):c.5497A>G (p.Thr1833Ala)	OTOGL (T1788A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500290	NM_001378609.3(OTOGL):c.5648G>A (p.Gly1883Asp)	OTOGL (G1874D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2531937	NM_001378609.3(OTOGL):c.5668T>C (p.Tyr1890His)	OTOGL (Y1890H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476515	NM_001378609.3(OTOGL):c.5692A>G (p.Ile1898Val)	OTOGL (I1853V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 595209	NM_001378609.3(OTOGL):c.5728A>T (p.Thr1910Ser)	OTOGL (T1865S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2575003	NM_001378609.3(OTOGL):c.5761A>G (p.Met1921Val)	OTOGL (M1876V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2251547	NM_001378609.3(OTOGL):c.5768T>A (p.Ile1923Asn)	OTOGL (I1878N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269267	NM_001378609.3(OTOGL):c.5846G>A (p.Cys1949Tyr)	OTOGL (C1949Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2620722	NM_001378609.3(OTOGL):c.5864T>C (p.Leu1955Ser)	OTOGL (L1910S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490200	NM_001378609.3(OTOGL):c.5894G>C (p.Cys1965Ser)	OTOGL (C1920S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532739	NM_001378609.3(OTOGL):c.6058G>A (p.Asp2020Asn)	OTOGL (D1975N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2