ClinVar for MedGen (Select 331376) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 390

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236447	NM_194248.3(OTOF):c.2499_2500insT (p.Lys834Ter)	OTOF (K144* +2 more)	Insertion (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 3065795	NM_194248.3(OTOF):c.3305A>G (p.Lys1102Arg)	OTOF (K1102R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 2689644	NM_194248.3(OTOF):c.658T>A (p.Ser220Thr)	OTOF (S220T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 2689643	NM_194248.3(OTOF):c.2256G>A (p.Glu752=)	LOC129933334, OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 2671698	NM_194248.3(OTOF):c.5291+5G>A	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 2582735	NM_194248.3(OTOF):c.4033CAA[1] (p.Gln1346del)	OTOF (Q1346del +2 more)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 2434524	NM_194248.3(OTOF):c.1538A>G (p.His513Arg)	OTOF (H513R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 2434523	NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)	OTOF (R1188H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2429109	NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)	OTOF (R1583H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic FDA Recognized database
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 1972386	NM_194248.3(OTOF):c.1962del (p.Arg656fs)	OTOF (R656fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1806149	NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn)	OTOF (D376N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1806146	NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)	OTOF (T1006S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1805732	NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)	OTOF (R652W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GUncertain significance
Select item 1799552	NM_194248.3(OTOF):c.2656del (p.Val886fs)	OTOF (V196fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1799530	NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)	OTOF (Y1064* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GPathogenic
Select item 1799529	NM_194248.3(OTOF):c.2214+5G>C	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1799528	NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter)	OTOF (R945* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1799527	NM_194248.3(OTOF):c.5169_5170del (p.Ile1724fs)	LOC112840921, OTOF (I1724fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1703051	NM_194248.3(OTOF):c.2215-1G>C	OTOF (Q48H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic FDA Recognized database
Select item 1703050	NM_194248.3(OTOF):c.4110_4120dup (p.Lys1374fs)	OTOF (K1374fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1703049	NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)	OTOF (W478R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1703048	NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)	OTOF (Q255P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1703047	NM_194248.3(OTOF):c.3592dup (p.Leu1198fs)	OTOF (L1198fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1703046	NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)	OTOF (S1225C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1703045	NM_194248.3(OTOF):c.5833del (p.Ile1945fs)	OTOF (I1178fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1703044	NM_194248.3(OTOF):c.2407-2del	OTOF	Deletion (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1703040	NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)	OTOF (V1498E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1699487	NM_194248.3(OTOF):c.4885del (p.His1629fs)	OTOF (H1629fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1699388	NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn)	OTOF (D1475N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GUncertain significance
Select item 1678642	NM_194248.3(OTOF):c.4655C>T (p.Pro1552Leu)	OTOF (P1552L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1677282	NM_194248.3(OTOF):c.2406+4A>G	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1497506	NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg)	OTOF (K1278R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GUncertain significance
Select item 1333439	NM_194248.3(OTOF):c.1696C>T (p.Arg566Trp)	OTOF (R566W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GUncertain significance
Select item 1333332	NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs)	OTOF (E1062fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1326977	NM_194248.3(OTOF):c.62C>T (p.Ala21Val)	OTOF (A21V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GBenign
Select item 1280658	NM_194248.3(OTOF):c.509+39A>T	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GBenign
Select item 1274893	NM_194248.3(OTOF):c.711-49A>C	OTOF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1272256	NM_194248.3(OTOF):c.510-39C>T	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GBenign
Select item 1217813	NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser)	OTOF (G1479S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1202582	NM_194248.3(OTOF):c.4882C>A (p.Pro1628Thr)	OTOF (P1628T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1185682	NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly)	OTOF, LOC112840921	Indel (inframe_indel)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1185651	NM_194248.3(OTOF):c.1962dup (p.Pro655fs)	OTOF (P655fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1185650	NM_194248.3(OTOF):c.1912+5G>C	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1185631	NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp)	OTOF (G1020D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1185627	NM_194248.3(OTOF):c.1364_1366delinsTTGC (p.Tyr455fs)	OTOF (Y455fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1185622	NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del)	OTOF (I1048del +2 more)	Microsatellite (inframe_deletion)	Auditory neuropathy	GLikely pathogenic
Select item 1185621	NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)	OTOF (G1090D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1185578	NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter)	OTOF (E1017* +2 more)	Single nucleotide variant (nonsense)	Bilateral sensorineural hearing impairment +2 more	GPathogenic
Select item 1185577	NM_194248.3(OTOF):c.5785A>C (p.Asn1929His)	OTOF (N1162H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1185110	NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe)	OTOF, LOC112840921	Insertion (inframe_insertion)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1185109	NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu)	OTOF, LOC112840921 (R1013L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1185106	NM_194248.3(OTOF):c.2676G>A (p.Lys892=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1185105	NM_194248.3(OTOF):c.3260A>T (p.Asp1087Val)	OTOF (D1087V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1185104	NM_194248.3(OTOF):c.669del (p.Ala224fs)	OTOF (A224fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1185101	NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup)	OTOF	Duplication (inframe_insertion)	Auditory neuropathy	GLikely pathogenic
Select item 1185100	NM_194248.3(OTOF):c.2406+2dup	OTOF	Duplication (splice donor variant)	Auditory neuropathy	GLikely pathogenic
Select item 1185099	NM_194248.3(OTOF):c.5104-1G>T	OTOF, LOC112840921	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1185082	NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter)	OTOF (C248* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 1185081	NM_194248.3(OTOF):c.2867-5_2881del	OTOF	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1185068	NM_194248.3(OTOF):c.1804-2A>G	OTOF	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 1030447	NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala)	OTOF (P1005A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 983224	NM_194248.3(OTOF):c.5179del (p.Arg1727fs)	LOC112840921, OTOF (R1037fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 981072	NM_194248.3(OTOF):c.5534-2A>G	OTOF	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 977921	NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter)	OTOF (E1163* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 916017	NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg)	OTOF	Single nucleotide variant (stop lost +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 899325	NM_194248.3(OTOF):c.494A>T (p.Glu165Val)	OTOF (E165V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 899324	NM_194248.3(OTOF):c.510-9C>A	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GConflicting classifications of pathogenicity
Select item 899267	NM_194248.3(OTOF):c.1489G>A (p.Val497Met)	OTOF (V497M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 899266	NM_194248.3(OTOF):c.1579+9C>T	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GConflicting classifications of pathogenicity
Select item 899213	NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser)	OTOF (F125S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899146	NM_194248.3(OTOF):c.3662A>G (p.His1221Arg)	OTOF (H1221R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 899145	NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln)	OTOF (R1249Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899091	NM_194248.3(OTOF):c.5040C>T (p.Arg1680=)	LOC112840921, OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 899028	NM_194248.3(OTOF):c.*348G>T	OTOF	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899027	NM_194248.3(OTOF):c.*474C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 899026	NM_194248.3(OTOF):c.*610C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 898288	NM_194248.3(OTOF):c.-89C>T	OTOF	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 898221	NM_194248.3(OTOF):c.654C>T (p.Pro218=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898220	NM_194248.3(OTOF):c.660G>A (p.Ser220=)	OTOF	Single nucleotide variant (synonymous variant)	OTOF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 898219	NM_194248.3(OTOF):c.731T>C (p.Met244Thr)	OTOF (M244T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 898164	NM_194248.3(OTOF):c.2029G>C (p.Gly677Arg)	OTOF (G677R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 898092	NM_194248.3(OTOF):c.2750G>A (p.Gly917Asp)	OTOF (G917D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	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 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 897956	NM_194248.3(OTOF):c.5403G>A (p.Ala1801=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GConflicting classifications of pathogenicity
Select item 897955	NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val)	OTOF (A1035V +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 897889	NM_194248.3(OTOF):c.*714A>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 897888	NM_194248.3(OTOF):c.*769G>C	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 897887	NM_194248.3(OTOF):c.*812C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 897886	NM_194248.3(OTOF):c.*936G>A	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 897125	NM_194248.3(OTOF):c.21C>A (p.Leu7=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GConflicting classifications of pathogenicity
Select item 896595	NM_194248.3(OTOF):c.783C>T (p.Ile261=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896594	NM_194248.3(OTOF):c.1100C>T (p.Ser367Leu)	OTOF (S367L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GUncertain significance
Select item 896593	NM_194248.3(OTOF):c.1117G>A (p.Val373Met)	OTOF (V373M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 896464	NM_194248.3(OTOF):c.2871G>A (p.Lys957=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 896463	NM_194248.3(OTOF):c.2928C>T (p.Asp976=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896462	NM_194248.3(OTOF):c.3127-5G>A	OTOF	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896401	NM_194248.3(OTOF):c.4375G>A (p.Val1459Met)	OTOF (V1459M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896400	NM_194248.3(OTOF):c.4377G>T (p.Val1459=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4