"Ambry Genetics"[submitter] AND "OTOA"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1303796	NM_144672.4(OTOA):c.86G>A (p.Arg29Lys)	OTOA (R29K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 229069	NM_144672.4(OTOA):c.96G>T (p.Leu32Phe)	OTOA (L32F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1399219	NM_144672.4(OTOA):c.119C>T (p.Ala40Val)	OTOA (A40V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2179062	NM_144672.4(OTOA):c.194C>T (p.Thr65Met)	OTOA (T65M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2396831	NM_144672.4(OTOA):c.355C>T (p.Arg119Cys)	OTOA (R119C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265623	NM_144672.4(OTOA):c.494A>C (p.Glu165Ala)	OTOA (E165A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 229068	NM_144672.4(OTOA):c.605G>C (p.Arg202Pro)	OTOA (R202P +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1338964	NM_144672.4(OTOA):c.671C>T (p.Ser224Leu)	OTOA (S145L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 985425	NM_144672.4(OTOA):c.680C>A (p.Ser227Tyr)	OTOA (S148Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 666890	NM_144672.4(OTOA):c.775T>C (p.Trp259Arg)	OTOA (W259R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2228860	NM_144672.4(OTOA):c.795G>T (p.Met265Ile)	OTOA (M265I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589100	NM_144672.4(OTOA):c.889G>T (p.Val297Phe)	OTOA (V297F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346541	NM_144672.4(OTOA):c.920C>T (p.Ala307Val)	OTOA (A228V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492809	NM_144672.4(OTOA):c.1030A>G (p.Thr344Ala)	OTOA (T20A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2536587	NM_144672.4(OTOA):c.1058T>C (p.Met353Thr)	OTOA (M29T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620298	NM_144672.4(OTOA):c.1160T>C (p.Leu387Pro)	OTOA (L387P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486812	NM_144672.4(OTOA):c.1219C>T (p.Pro407Ser)	OTOA (P407S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312220	NM_144672.4(OTOA):c.1234G>A (p.Gly412Arg)	OTOA (G412R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2040684	NM_144672.4(OTOA):c.1337A>G (p.Asn446Ser)	OTOA (N122S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1199850	NM_144672.4(OTOA):c.1424G>A (p.Arg475Lys)	OTOA (R151K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1423152	NM_144672.4(OTOA):c.1440G>T (p.Gln480His)	OTOA (Q156H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2474730	NM_144672.4(OTOA):c.1658A>G (p.Lys553Arg)	OTOA (K553R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521781	NM_144672.4(OTOA):c.1727T>C (p.Ile576Thr)	OTOA (I576T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2475690	NM_144672.4(OTOA):c.1991T>A (p.Val664Asp)	OTOA (V340D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493097	NM_144672.4(OTOA):c.2051T>C (p.Ile684Thr)	OTOA (I360T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493181	NM_144672.4(OTOA):c.2237C>T (p.Thr746Met)	OTOA (T422M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366829	NM_144672.4(OTOA):c.2389C>T (p.Arg797Trp)	OTOA (R797W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272103	NM_144672.4(OTOA):c.2921T>C (p.Val974Ala)	OTOA (V974A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367248	NM_144672.4(OTOA):c.2945T>C (p.Leu982Pro)	OTOA (L658P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603285	NM_144672.4(OTOA):c.3070G>C (p.Ala1024Pro)	OTOA (A700P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545631	NM_144672.4(OTOA):c.3076C>T (p.Leu1026Phe)	OTOA (L947F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596360	NM_144672.4(OTOA):c.3079C>T (p.Arg1027Trp)	OTOA (R1027W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238051	NM_144672.4(OTOA):c.3224G>A (p.Arg1075Gln)	OTOA (R751Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 33