"GeneDx"[submitter] AND "OTOF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 335426	NM_194248.3(OTOF):c.*372C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
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 894898	NM_194248.3(OTOF):c.*220C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GLikely benign
Select item 517409	NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg)	OTOF (K1225R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3369866	NM_194323.3(OTOF):c.3667A>G (p.Met1223Val)	OTOF (M1223V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 180120	NM_194323.3(OTOF):c.3624del (p.Leu1209fs)	OTOF (L1976fs +1 more)	Deletion (frameshift variant +1 more)	Nonsyndromic genetic hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 178626	NM_194323.3(OTOF):c.3621G>A (p.Leu1207=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 2428934	NM_194323.3(OTOF):c.3563A>G (p.Lys1188Arg)	OTOF (K1188R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2506680	NM_194323.3(OTOF):c.3560_3562del (p.Ile1187del)	OTOF (I1187del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 1254040	NM_194323.3(OTOF):c.3522C>T (p.Asp1174=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 548986	NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)	OTOF (R1939Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1331159	NM_194248.3(OTOF):c.*18-7T>G	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263465	NM_194248.3(OTOF):c.*18-30G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223306	NM_194248.3(OTOF):c.*17+230A>G	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218297	NM_194248.3(OTOF):c.17+143_17+144insCG	OTOF	Insertion (intron variant)	not provided	GLikely benign
Select item 1236693	NM_194248.3(OTOF):c.17+59_17+60insACAT	OTOF	Insertion (intron variant)	not provided	GBenign
Select item 1187287	NM_194248.3(OTOF):c.*17+47G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219352	NM_194248.3(OTOF):c.5814-121G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514686	NM_194248.3(OTOF):c.5813+9C>T	OTOF	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 65812	NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)	OTOF (L1934fs +2 more)	Duplication (frameshift variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic/Likely pathogenic
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 48269	NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 48268	NM_194248.3(OTOF):c.5713-2A>G	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 681381	NM_194248.3(OTOF):c.5694C>T (p.Asn1898=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1211668	NM_194248.3(OTOF):c.5668T>C (p.Trp1890Arg)	OTOF (W1123R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 21858	NM_194248.3(OTOF):c.5655C>T (p.Arg1885=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign
Select item 1806732	NM_194248.3(OTOF):c.5654G>A (p.Arg1885His)	OTOF (R1118H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 335429	NM_194248.3(OTOF):c.5623G>A (p.Val1875Met)	OTOF (V1875M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2582172	NM_194248.3(OTOF):c.5621A>T (p.Asp1874Val)	OTOF (D1107V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48265	NM_194248.3(OTOF):c.5610C>T (p.Thr1870=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 817737	NM_194248.3(OTOF):c.5581del (p.Ala1861fs)	OTOF (A1171fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 48262	NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln)	OTOF (R1853Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1695845	NM_194248.3(OTOF):c.5553G>C (p.Leu1851=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1262977	NM_194248.3(OTOF):c.5534-108A>G	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246738	NM_194248.3(OTOF):c.5534-198A>T	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212403	NM_194248.3(OTOF):c.5533+129del	OTOF	Deletion (intron variant)	not provided	GLikely benign
Select item 1269717	NM_194248.3(OTOF):c.5533+67G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509513	NM_194248.3(OTOF):c.5505G>A (p.Ala1835=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1194286	NM_194248.3(OTOF):c.5479C>A (p.Arg1827=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1305378	NM_194248.3(OTOF):c.5475C>A (p.Pro1825=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2902516	NM_194248.3(OTOF):c.5466C>T (p.Tyr1822=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1704105	NM_194248.3(OTOF):c.5461G>A (p.Glu1821Lys)	OTOF (E1054K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48261	NM_194248.3(OTOF):c.5418C>T (p.Ile1806=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 65810	NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del)	OTOF (E1804del +2 more)	Microsatellite (inframe_deletion)	Rare genetic deafness +1 more	GLikely pathogenic
Select item 48260	NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21857	NM_194248.3(OTOF):c.5391C>T (p.Phe1797=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign
Select item 48259	NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)	OTOF (R1792H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GPathogenic/Likely pathogenic
Select item 48258	NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)	OTOF (V1778F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 2421827	NM_194248.3(OTOF):c.5323G>C (p.Asp1775His)	OTOF (D1008H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289435	NM_194248.3(OTOF):c.5292-9C>T	OTOF	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 426855	NM_194248.3(OTOF):c.5254T>C (p.Phe1752Leu)	OTOF (F1752L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504417	NM_194248.3(OTOF):c.5233G>A (p.Val1745Ile)	OTOF (V1055I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064992	NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp)	OTOF (R1045W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2663099	NM_194248.3(OTOF):c.5193-3del	OTOF	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1236687	NM_194248.3(OTOF):c.5192+250G>A	LOC112840921, OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681904	NM_194248.3(OTOF):c.5160G>A (p.Thr1720=)	LOC112840921, OTOF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2507169	NM_194248.3(OTOF):c.5113G>C (p.Glu1705Gln)	LOC112840921, OTOF (E1015Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501583	NM_194248.3(OTOF):c.5107C>T (p.Arg1703Cys)	LOC112840921, OTOF (R1013C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226564	NM_194248.3(OTOF):c.5103+195G>A	LOC112840921, OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210537	NM_194248.3(OTOF):c.5103+126C>G	LOC112840921, OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200551	NM_194248.3(OTOF):c.5103+45C>G	LOC112840921, OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515598	NM_194248.3(OTOF):c.5103+9T>G	LOC112840921, OTOF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 48253	NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)	LOC112840921, OTOF (E1700Q +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 48252	NM_194248.3(OTOF):c.5097C>T (p.Ile1699=)	LOC112840921, OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1327673	NM_194248.3(OTOF):c.5083G>A (p.Asp1695Asn)	LOC112840921, OTOF (D1005N +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 48248	NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)	LOC112840921, OTOF (T1688M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178627	NM_194248.3(OTOF):c.5039G>A (p.Arg1680His)	LOC112840921, OTOF (R1680H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 1327351	NM_194248.3(OTOF):c.5027G>A (p.Arg1676His)	LOC112840921, OTOF (R1676H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178504	NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys)	OTOF, LOC112840921 (R1676C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign
Select item 179200	NM_194248.3(OTOF):c.4996T>C (p.Leu1666=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504655	NM_194248.3(OTOF):c.4980C>T (p.Asp1660=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1212539	NM_194248.3(OTOF):c.4961-12C>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175498	NM_194248.3(OTOF):c.4961-188T>C	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219610	NM_194248.3(OTOF):c.4960+261C>A	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 21856	NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser)	OTOF (P1646S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign
Select item 2444598	NM_194248.3(OTOF):c.4918A>G (p.Asn1640Asp)	OTOF (N1640D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48242	NM_194248.3(OTOF):c.4869C>T (p.Gly1623=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 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 178505	NM_194248.3(OTOF):c.4800-11C>T	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 1276604	NM_194248.3(OTOF):c.4800-203T>C	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229314	NM_194248.3(OTOF):c.4799+218G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200355	NM_194248.3(OTOF):c.4799+173C>G	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 263084	NM_194248.3(OTOF):c.4799+16G>A	OTOF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 21854	NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign
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 402270	NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)	OTOF (R1583C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GPathogenic/Likely pathogenic
Select item 48240	NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)	OTOF (I1573T +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +3 more	GPathogenic/Likely pathogenic
Select item 21853	NM_194248.3(OTOF):c.4677G>A (p.Val1559=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign
Select item 2504973	NM_194248.3(OTOF):c.4667T>A (p.Met1556Lys)	OTOF (M1556K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342509	NM_194248.3(OTOF):c.4642del (p.Glu1548fs)	OTOF (E1548fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 48239	NM_194248.3(OTOF):c.4629-9C>T	OTOF	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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 1296880	NM_194248.3(OTOF):c.4501-139C>A	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282574	NM_194248.3(OTOF):c.4500+317G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign

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