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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2397396	NM_194248.3(OTOF):c.5858C>T (p.Ser1953Leu)	OTOF (S1186L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2069466	NM_194248.3(OTOF):c.5684G>A (p.Arg1895His)	OTOF (R1128H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 391704	NM_194248.3(OTOF):c.5632G>A (p.Val1878Met)	OTOF (V1878M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2554735	NM_194248.3(OTOF):c.5626C>A (p.Pro1876Thr)	OTOF (P1109T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251378	NM_194248.3(OTOF):c.5609C>T (p.Thr1870Ile)	OTOF (T1180I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212445	NM_194248.3(OTOF):c.5542G>A (p.Glu1848Lys)	OTOF (E1081K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219906	NM_194248.3(OTOF):c.5486C>G (p.Thr1829Ser)	OTOF (T1139S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207235	NM_194248.3(OTOF):c.5423T>A (p.Ile1808Asn)	OTOF (I1041N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207234	NM_194248.3(OTOF):c.5348T>G (p.Leu1783Arg)	OTOF (L1783R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207233	NM_194248.3(OTOF):c.5245G>A (p.Asp1749Asn)	OTOF (D1749N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 897957	NM_194248.3(OTOF):c.5245G>T (p.Asp1749Tyr)	OTOF (D982Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3207231	NM_194248.3(OTOF):c.5193G>T (p.Lys1731Asn)	OTOF (K1731N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213075	NM_194248.3(OTOF):c.5165T>G (p.Leu1722Arg)	LOC112840921, OTOF (L1032R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 227757	NM_194248.3(OTOF):c.5159C>T (p.Thr1720Met)	LOC112840921, OTOF (T1720M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 667293	NM_194248.3(OTOF):c.5128A>C (p.Met1710Leu)	LOC112840921, OTOF (M943L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2536369	NM_194248.3(OTOF):c.5038C>A (p.Arg1680Ser)	LOC112840921, OTOF (R913S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 667294	NM_194248.3(OTOF):c.5029G>A (p.Ala1677Thr)	LOC112840921, OTOF (A987T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3207230	NM_194248.3(OTOF):c.5017G>A (p.Asp1673Asn)	LOC112840921, OTOF (D906N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 164839	NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn)	OTOF (D1651N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 894962	NM_194248.3(OTOF):c.4924G>A (p.Val1642Ile)	OTOF (V875I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2877084	NM_194248.3(OTOF):c.4892G>A (p.Gly1631Glu)	OTOF (G1631E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1311016	NM_194248.3(OTOF):c.4852C>T (p.Arg1618Cys)	OTOF (R1618C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 48241	NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr)	OTOF (D1608Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 517344	NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr)	OTOF (A1595T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3207229	NM_194248.3(OTOF):c.4777G>A (p.Gly1593Ser)	OTOF (G1593S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303635	NM_194248.3(OTOF):c.4609C>T (p.Leu1537Phe)	OTOF (L1537F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 667295	NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr)	OTOF (A1518T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2318968	NM_194248.3(OTOF):c.4529A>G (p.Asn1510Ser)	OTOF (N743S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368794	NM_194248.3(OTOF):c.4505C>T (p.Thr1502Met)	OTOF (T735M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3303634	NM_194248.3(OTOF):c.4489T>C (p.Tyr1497His)	OTOF (Y730H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487473	NM_194248.3(OTOF):c.4457G>A (p.Ser1486Asn)	OTOF (S1486N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207228	NM_194248.3(OTOF):c.4447G>C (p.Gly1483Arg)	OTOF (G716R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 164844	NM_194248.3(OTOF):c.4440G>T (p.Met1480Ile)	OTOF (M1480I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3207226	NM_194248.3(OTOF):c.4429A>G (p.Thr1477Ala)	OTOF (T787A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2711391	NM_194248.3(OTOF):c.4402G>A (p.Val1468Met)	OTOF (V701M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2601487	NM_194248.3(OTOF):c.4354C>T (p.Arg1452Cys)	OTOF (R1452C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 898031	NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys)	OTOF (E709K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 667141	NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val)	OTOF (G1364V +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 1404285	NM_194248.3(OTOF):c.4087G>A (p.Glu1363Lys)	OTOF (E1363K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2362538	NM_194248.3(OTOF):c.4036C>G (p.Gln1346Glu)	OTOF (Q579E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3017535	NM_194248.3(OTOF):c.3789C>T (p.Ser1263=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2918015	NM_194248.3(OTOF):c.3748C>T (p.Arg1250Cys)	OTOF (R1250C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178507	NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)	OTOF (R1236G +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2533567	NM_194248.3(OTOF):c.3705C>G (p.Asp1235Glu)	OTOF (D545E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2494512	NM_194248.3(OTOF):c.3695G>A (p.Arg1232Gln)	OTOF (R485Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 196192	NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp)	OTOF (R1232W +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 499157	NM_194248.3(OTOF):c.3680G>A (p.Arg1227Gln)	OTOF (R1227Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 618772	NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser)	OTOF (G1213S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2496042	NM_194248.3(OTOF):c.3614G>A (p.Arg1205His)	OTOF (R1205H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285453	NM_194248.3(OTOF):c.3487G>A (p.Ala1163Thr)	OTOF (A473T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205916	NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln)	OTOF (R1155Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 2609604	NM_194248.3(OTOF):c.3456G>C (p.Gln1152His)	OTOF (Q462H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050348	NM_194248.3(OTOF):c.3428G>A (p.Arg1143Gln)	OTOF (R1143Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2612502	NM_194248.3(OTOF):c.3409G>C (p.Val1137Leu)	OTOF (V390L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1388399	NM_194248.3(OTOF):c.3362C>T (p.Pro1121Leu)	OTOF (P431L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2498808	NM_194248.3(OTOF):c.3347G>A (p.Arg1116Gln)	OTOF (R1116Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3207223	NM_194248.3(OTOF):c.3337G>A (p.Asp1113Asn)	OTOF (D1113N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528279	NM_194248.3(OTOF):c.3306G>C (p.Lys1102Asn)	OTOF (K412N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621903	NM_194248.3(OTOF):c.3259G>A (p.Asp1087Asn)	OTOF (D1087N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 667296	NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His)	OTOF (Y1076H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3303637	NM_194248.3(OTOF):c.3109T>C (p.Tyr1037His)	OTOF (Y1037H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050500	NM_194248.3(OTOF):c.3040G>A (p.Asp1014Asn)	OTOF (D1014N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 48211	NM_194248.3(OTOF):c.2972A>G (p.Asn991Ser)	OTOF (N991S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2346824	NM_194248.3(OTOF):c.2923G>A (p.Ala975Thr)	OTOF (A228T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227753	NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)	OTOF (V950I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2368281	NM_194248.3(OTOF):c.2765G>A (p.Arg922His)	OTOF (R922H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618773	NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp)	OTOF (G898D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1449826	NM_194248.3(OTOF):c.2689C>T (p.Arg897Trp)	OTOF (R207W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 48204	NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr)	OTOF (A884T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2538811	NM_194248.3(OTOF):c.2627A>G (p.Glu876Gly)	OTOF (E129G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257310	NM_194248.3(OTOF):c.2582C>T (p.Ala861Val)	OTOF (A861V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616130	NM_194248.3(OTOF):c.2581G>A (p.Ala861Thr)	OTOF (A861T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186468	NM_194248.3(OTOF):c.2576G>A (p.Arg859His)	OTOF (R169H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2254875	NM_194248.3(OTOF):c.2569A>G (p.Asn857Asp)	OTOF (N167D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392692	NM_194248.3(OTOF):c.2551A>T (p.Ile851Phe)	OTOF (I161F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3207221	NM_194248.3(OTOF):c.2530C>A (p.His844Asn)	OTOF (H154N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 666895	NM_194248.3(OTOF):c.2453G>A (p.Arg818Gln)	OTOF (R71Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2277614	NM_194248.3(OTOF):c.2413A>G (p.Met805Val)	OTOF (M58V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243945	NM_194248.3(OTOF):c.2393G>T (p.Cys798Phe)	OTOF (C798F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207220	NM_194248.3(OTOF):c.2354C>T (p.Ser785Leu)	OTOF (S785L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663308	NM_194248.3(OTOF):c.2332G>A (p.Ala778Thr)	OTOF (A31T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1445955	NM_194248.3(OTOF):c.2282G>A (p.Arg761Gln)	LOC129933334, OTOF (R761Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2373358	NM_194248.3(OTOF):c.2281C>T (p.Arg761Trp)	LOC129933334, OTOF (R71W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482290	NM_194248.3(OTOF):c.2276G>A (p.Arg759His)	LOC129933334, OTOF (R69H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2361654	NM_194248.3(OTOF):c.2273G>A (p.Arg758His)	LOC129933334, OTOF (R68H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 164866	NM_194248.3(OTOF):c.2252C>T (p.Thr751Met)	LOC129933334, OTOF (T61M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2569083	NM_194248.3(OTOF):c.2170C>T (p.Arg724Cys)	OTOF (R724C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383883	NM_194248.3(OTOF):c.2129C>G (p.Pro710Arg)	OTOF (P710R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 335448	NM_194248.3(OTOF):c.2106T>A (p.His702Gln)	OTOF (H702Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 48185	NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln)	OTOF (R692Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1049624	NM_194248.3(OTOF):c.2039G>A (p.Gly680Glu)	OTOF (G680E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305403	NM_194248.3(OTOF):c.2030G>T (p.Gly677Val)	OTOF (G677V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430460	NM_194248.3(OTOF):c.1963C>T (p.Pro655Ser)	OTOF (P655S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1301291	NM_194248.3(OTOF):c.1867G>A (p.Asp623Asn)	OTOF (D623N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2207404	NM_194248.3(OTOF):c.1855G>A (p.Ala619Thr)	OTOF (A619T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 811032	NM_194248.3(OTOF):c.1732G>C (p.Val578Leu)	OTOF (V578L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +3 more	GConflicting classifications of pathogenicity
Select item 48177	NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln)	OTOF (R568Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +3 more	GUncertain significance
Select item 930089	NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp)	OTOF (A567D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2360160	NM_194248.3(OTOF):c.1697G>A (p.Arg566Gln)	OTOF (R566Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486193	NM_194248.3(OTOF):c.1678G>T (p.Gly560Trp)	OTOF (G560W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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