"PreventionGenetics, part of Exact Sciences"[submitter] AND "OTOF"[gen - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227759	NM_194323.3(OTOF):c.3600C>T (p.Ile1200=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 548986	NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)	OTOF (R1939Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GPathogenic
Select item 3054158	NM_194248.3(OTOF):c.5780C>T (p.Ala1927Val)	OTOF (A1160V +2 more)	Single nucleotide variant (missense variant)	OTOF-related disorder	GUncertain significance
Select item 2962559	NM_194248.3(OTOF):c.5673C>T (p.Pro1891=)	OTOF	Single nucleotide variant (synonymous variant)	OTOF-related disorder +1 more	GLikely benign
Select item 21858	NM_194248.3(OTOF):c.5655C>T (p.Arg1885=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 48265	NM_194248.3(OTOF):c.5610C>T (p.Thr1870=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 21857	NM_194248.3(OTOF):c.5391C>T (p.Phe1797=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 263085	NM_194248.3(OTOF):c.5331C>T (p.Asp1777=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 48251	NM_194248.3(OTOF):c.5091G>A (p.Pro1697=)	LOC112840921, OTOF	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 179200	NM_194248.3(OTOF):c.4996T>C (p.Leu1666=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 504655	NM_194248.3(OTOF):c.4980C>T (p.Asp1660=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely 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 263084	NM_194248.3(OTOF):c.4799+16G>A	OTOF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1648108	NM_194248.3(OTOF):c.4782C>T (p.Ile1594=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 21854	NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 3047844	NM_194248.3(OTOF):c.4558C>T (p.Arg1520Trp)	OTOF (R1520W +2 more)	Single nucleotide variant (missense variant)	OTOF-related disorder	GUncertain significance
Select item 178506	NM_194248.3(OTOF):c.4483C>A (p.Arg1495=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1351944	NM_194248.3(OTOF):c.4474G>A (p.Val1492Met)	OTOF (V802M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 48234	NM_194248.3(OTOF):c.4341G>A (p.Glu1447=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 48229	NM_194248.3(OTOF):c.4023+1G>A	OTOF	Single nucleotide variant (splice donor variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 229077	NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn)	OTOF (K1306N +2 more)	Single nucleotide variant (missense variant)	OTOF-related disorder +2 more	GUncertain significance
Select item 48225	NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)	OTOF (C1251G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 48221	NM_194248.3(OTOF):c.3679C>A (p.Arg1227=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 48219	NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser)	OTOF (N1203S +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1183600	NM_194248.3(OTOF):c.3385G>A (p.Val1129Met)	OTOF (V1129M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227755	NM_194248.3(OTOF):c.3384C>T (p.Pro1128=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 48209	NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)	OTOF (R970C +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 48206	NM_194248.3(OTOF):c.2829C>T (p.Gly943=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 21839	NM_194248.3(OTOF):c.2736G>C (p.Leu912=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign
Select item 263083	NM_194248.3(OTOF):c.2688G>A (p.Lys896=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 743968	NM_194248.3(OTOF):c.2664G>A (p.Thr888=)	OTOF	Single nucleotide variant (synonymous variant)	OTOF-related disorder +1 more	GLikely benign
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 2894617	NM_194248.3(OTOF):c.2505G>A (p.Leu835=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 263082	NM_194248.3(OTOF):c.2407-17C>T	OTOF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 48194	NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)	OTOF (R792Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 21833	NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys)	OTOF (R773C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign
Select item 263081	NM_194248.3(OTOF):c.2315+16C>T	LOC129933334, OTOF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 48188	NM_194248.3(OTOF):c.2215-19C>G	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 48189	NM_194248.3(OTOF):c.2215-80T>C	OTOF (L22P)	Single nucleotide variant (missense variant +1 more)	OTOF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 263080	NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser)	OTOF (N727S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 48187	NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)	OTOF (W718*)	Single nucleotide variant (nonsense)	OTOF-related disorder +4 more	GPathogenic
Select item 48186	NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)	OTOF (R708Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 3036145	NM_194248.3(OTOF):c.1966C>T (p.Arg656Trp)	OTOF (R656W)	Single nucleotide variant (missense variant)	OTOF-related disorder	GUncertain significance
Select item 263079	NM_194248.3(OTOF):c.1965C>A (p.Pro655=)	OTOF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 513459	NM_194248.3(OTOF):c.1708C>T (p.Leu570=)	OTOF	Single nucleotide variant (synonymous variant)	OTOF-related disorder +2 more	GLikely benign
Select item 48173	NM_194248.3(OTOF):c.1530C>T (p.Ile510=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2889790	NM_194248.3(OTOF):c.1522G>A (p.Val508Met)	OTOF (V508M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 48170	NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)	OTOF (P490R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 48168	NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly)	OTOF (E475G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 164872	NM_194248.3(OTOF):c.1317T>C (p.Asn439=)	OTOF	Single nucleotide variant (synonymous variant)	OTOF-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 48165	NM_194248.3(OTOF):c.1185C>T (p.Thr395=)	OTOF	Single nucleotide variant (synonymous variant)	OTOF-related disorder +3 more	GBenign/Likely benign
Select item 263078	NM_194248.3(OTOF):c.1045+12C>T	OTOF	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 178513	NM_194248.3(OTOF):c.1035C>T (p.Tyr345=)	OTOF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 164875	NM_194248.3(OTOF):c.1020C>T (p.Asp340=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 1208252	NM_194248.3(OTOF):c.828C>T (p.Cys276=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 48274	NM_194248.3(OTOF):c.766-3C>T	OTOF	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 48273	NM_194248.3(OTOF):c.710+10C>T	OTOF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 898220	NM_194248.3(OTOF):c.660G>A (p.Ser220=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 48250	NM_194248.3(OTOF):c.509+11G>A	OTOF	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 48249	NM_194248.3(OTOF):c.509+10A>G	OTOF	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 335461	NM_194248.3(OTOF):c.447G>A (p.Thr149=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 48236	NM_194248.3(OTOF):c.446C>T (p.Thr149Met)	OTOF (T149M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 48222	NM_194248.3(OTOF):c.367G>A (p.Gly123Ser)	OTOF (G123S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 48199	NM_194248.3(OTOF):c.245G>A (p.Arg82His)	OTOF (R82H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 682350	NM_194248.3(OTOF):c.234C>T (p.Ile78=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2895373	NM_194248.3(OTOF):c.231C>T (p.Leu77=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 21824	NM_194248.3(OTOF):c.158C>T (p.Ala53Val)	OTOF (A53V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign
Select item 48169	NM_194248.3(OTOF):c.145C>T (p.Arg49Trp)	OTOF (R49W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign
Select item 48278	NM_194248.3(OTOF):c.98G>A (p.Arg33Gln)	OTOF (R33Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 505046	NM_194248.3(OTOF):c.80-5C>T	OTOF	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 48257	NM_194248.3(OTOF):c.51C>T (p.Gly17=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 81