C1832828[trait identifier] AND "GeneReviews"[submitter] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21863	NM_194248.3(OTOF):c.5960C>G (p.Pro1987Arg)	OTOF (P1987R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 6136	NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)	OTOF (R1939Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GPathogenic
Select item 65813	NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)	OTOF (R1939W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 65812	NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)	OTOF (L1934fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21860	NM_194248.3(OTOF):c.5712+1G>A	OTOF	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21859	NM_194248.3(OTOF):c.5663G>A (p.Gly1888Asp)	OTOF (G1888D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21858	NM_194248.3(OTOF):c.5655C>T (p.Arg1885=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 65811	NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln)	OTOF (R1856Q +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +1 more	GPathogenic/Likely pathogenic
Select item 6138	NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala)	OTOF (P1825A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 65810	NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del)	OTOF (E1804del +2 more)	Microsatellite (inframe_deletion)	Rare genetic deafness	GLikely pathogenic
Select item 21857	NM_194248.3(OTOF):c.5391C>T (p.Phe1797=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 65809	NM_194248.3(OTOF):c.5384T>G (p.Phe1795Cys)	OTOF (F1795C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65808	NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys)	OTOF (E1733K +2 more)	Single nucleotide variant (missense variant)	Auditory neuropathy spectrum disorder +1 more	GPathogenic/Likely pathogenic
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	GUncertain significance FDA Recognized database
Select item 65807	NM_194248.3(OTOF):c.5011dup (p.Trp1671fs)	OTOF (W904fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 6140	NM_194248.3(OTOF):c.4960+1G>C	OTOF	Single nucleotide variant (splice donor variant)	Auditory neuropathy, autosomal recessive, 1	GPathogenic
Select item 21856	NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser)	OTOF (P1646S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 21855	NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)	OTOF (V1625M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GBenign
Select item 65806	NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp)	OTOF (R1607W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65805	NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)	OTOF (Y1603* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 21854	NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 48240	NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)	OTOF (I1573T +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 21853	NM_194248.3(OTOF):c.4677G>A (p.Val1559=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 21852	NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)	OTOF (R1520Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 21851	NM_194248.3(OTOF):c.4500+2T>G	OTOF	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 6133	NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)	OTOF (Y730* +2 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
Select item 65804	NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)	OTOF (R1495* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9 +3 more	GPathogenic
Select item 208019	NM_194248.3(OTOF):c.4467dup (p.Ile1490fs)	OTOF (I723fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65803	NM_194248.3(OTOF):c.4351G>T (p.Gly1451Ter)	OTOF (G1451* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21849	NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)	OTOF (W1425* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 65802	NM_194248.3(OTOF):c.4227+1G>T	OTOF	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 65801	NM_194248.3(OTOF):c.4157C>T (p.Thr1386Ile)	OTOF (T1386I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21848	NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)	OTOF (D1322E +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 21846	NM_194248.3(OTOF):c.3571-2A>C	OTOF	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21845	NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln)	OTOF (R1157Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 65799	NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro)	OTOF (L1138P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 65798	NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)	OTOF (R1134* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 65797	NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu)	OTOF (A1090E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21844	NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro)	OTOF (A1083P +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 65796	NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro)	OTOF (R1080P +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GLikely pathogenic
Select item 21843	NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 6142	NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)	OTOF (L1011P +2 more)	Single nucleotide variant (missense variant)	Auditory neuropathy, autosomal recessive, 1	GPathogenic
Select item 21841	NM_194248.3(OTOF):c.2991+1G>A	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 179828	NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs)	OTOF (Q304fs +2 more)	Microsatellite (frameshift variant)	Rare genetic deafness +1 more	GPathogenic
Select item 65794	NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs)	OTOF (A222fs +2 more)	Indel (frameshift variant)	Bilateral sensorineural hearing impairment	GLikely pathogenic
Select item 65793	NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu)	OTOF (A964E +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GPathogenic
Select item 21840	NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)	OTOF (R963* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65792	NM_194248.3(OTOF):c.2732_2735dup (p.Tyr913fs)	OTOF (Y223fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21839	NM_194248.3(OTOF):c.2736G>C (p.Leu912=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 65791	NM_194248.3(OTOF):c.2684_2685del (p.Gly895fs)	OTOF (G148fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65790	NM_194248.3(OTOF):c.2649C>A (p.Cys883Ter)	OTOF (C883* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21838	NM_194248.3(OTOF):c.2580C>G (p.Val860=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 6137	NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)	OTOF (Q829* +2 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 21837	NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)	OTOF (R822W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 21835	NM_194248.3(OTOF):c.2381G>A (p.Arg794His)	OTOF (R794H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 21834	NM_194248.3(OTOF):c.2348del (p.Gly783fs)	OTOF (G783fs +2 more)	Deletion (frameshift variant)	Rare genetic deafness +4 more	GPathogenic
Select item 21833	NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys)	OTOF (R773C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 65789	NM_194248.3(OTOF):c.2316C>A (p.Cys772Ter)	OTOF (C772* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65787	NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)	LOC129933334, OTOF (E747* +1 more)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness +3 more	GPathogenic
Select item 21832	NM_194248.3(OTOF):c.2214+1G>T	OTOF	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21831	NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)	OTOF (R708*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 21830	NM_194248.3(OTOF):c.2025G>A (p.Glu675=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 21829	NM_194248.3(OTOF):c.2022C>T (p.Asp674=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 65786	NM_194248.3(OTOF):c.1966del (p.Arg656fs)	OTOF (R656fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 21828	NM_194248.3(OTOF):c.1926C>T (p.Asn642=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 21827	NM_194248.3(OTOF):c.1886dup (p.Pro630fs)	OTOF (P630fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65784	NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu)	OTOF (G614E)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GLikely pathogenic
Select item 65783	NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys)	OTOF (E594K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65782	NM_194248.3(OTOF):c.1740del (p.Ser581fs)	OTOF (S581fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21826	NM_194248.3(OTOF):c.1723G>A (p.Val575Met)	OTOF (V575M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 65781	NM_194248.3(OTOF):c.1718T>G (p.Leu573Arg)	OTOF (L573R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21825	NM_194248.3(OTOF):c.1651del (p.Glu551fs)	OTOF (E551fs)	Deletion (frameshift variant)	Auditory neuropathy, autosomal recessive, 1	GPathogenic
Select item 65780	NM_194248.3(OTOF):c.1609del (p.Trp536_Val537insTer)	OTOF	Deletion (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65779	NM_194248.3(OTOF):c.1607G>A (p.Trp536Ter)	OTOF (W536*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65778	NM_194248.3(OTOF):c.1601del (p.Pro534fs)	OTOF (P534fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 65777	NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)	OTOF (R518fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 6143	NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)	OTOF (I515T)	Single nucleotide variant (missense variant)	Rare genetic deafness +1 more	GLikely pathogenic
Select item 21823	NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln)	OTOF (P490Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 65776	NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter)	OTOF (R425*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 65775	NM_194248.3(OTOF):c.1236del (p.Glu413fs)	OTOF (E413fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 48166	NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)	OTOF (D398E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 65774	NM_194248.3(OTOF):c.1180dup (p.Glu394fs)	OTOF (E394fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65773	NM_194248.3(OTOF):c.1103_1104delinsC (p.Gly368fs)	OTOF (G368fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 21864	NM_194248.3(OTOF):c.945G>A (p.Lys315=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign
Select item 6134	NM_194248.3(OTOF):c.766-2A>G	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 65815	NM_194248.3(OTOF):c.765G>C (p.Gln255His)	OTOF (Q255H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 65814	NM_194248.3(OTOF):c.709C>T (p.Arg237Ter)	OTOF (R237*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 21847	NM_194248.3(OTOF):c.372A>G (p.Thr124=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 21836	NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)	OTOF (R82C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 21824	NM_194248.3(OTOF):c.158C>T (p.Ala53Val)	OTOF (A53V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 65816	NM_194248.1:c.766-2T>A	OTOF	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 65800	NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG	OTOF	Deletion	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 65788	NM_194248.1:c.2295_2297delG	OTOF	Deletion	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 65785	NM_194248.1:c.1912-2C>T	OTOF	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 21862	NM_194248.1:c.5860_5862delATC	OTOF	Deletion	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic

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Items: 95