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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47954	NM_144672.4(OTOA):c.44T>A (p.Phe15Tyr)	OTOA (F15Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 227750	NM_144672.4(OTOA):c.396C>T (p.Gly132=)	OTOA	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1323389	NM_144672.4(OTOA):c.399+2T>C	OTOA	Single nucleotide variant (splice donor variant)	OTOA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 47955	NM_144672.4(OTOA):c.615C>T (p.Arg205=)	OTOA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2978113	NM_144672.4(OTOA):c.807G>A (p.Ser269=)	OTOA	Single nucleotide variant (synonymous variant)	OTOA-related disorder +1 more	GLikely benign
Select item 402235	NM_144672.4(OTOA):c.828del (p.Ser277fs)	OTOA (S198fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22 +3 more	GPathogenic/Likely pathogenic
Select item 290810	NM_144672.4(OTOA):c.921G>A (p.Ala307=)	OTOA	Single nucleotide variant (synonymous variant)	OTOA-related disorder +2 more	GBenign/Likely benign
Select item 178846	NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu)	OTOA (Q381E +2 more)	Single nucleotide variant (missense variant)	Usher syndrome +2 more	GConflicting classifications of pathogenicity
Select item 179001	NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)	OTOA (S391L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1462794	NM_144672.4(OTOA):c.1265G>T (p.Gly422Val)	OTOA (G422V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262526	NM_144672.4(OTOA):c.1320+19C>T	OTOA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 164823	NM_144672.4(OTOA):c.1500G>C (p.Ala500=)	OTOA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 504520	NM_144672.4(OTOA):c.1522G>A (p.Val508Met)	OTOA (V508M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 178499	NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)	OTOA (V508A +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 47952	NM_144672.4(OTOA):c.1630-5C>T	OTOA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 164826	NM_144672.4(OTOA):c.1880+1G>A	OTOA	Single nucleotide variant (splice donor variant)	OTOA-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2629632	NM_144672.4(OTOA):c.2095_2096del (p.Arg699fs)	OTOA (R375fs +2 more)	Deletion (frameshift variant)	OTOA-related disorder	GLikely pathogenic
Select item 2907485	NM_144672.4(OTOA):c.2102del (p.Ile701fs)	OTOA (I377fs +2 more)	Deletion (frameshift variant)	OTOA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 178501	NM_144672.4(OTOA):c.2207+9C>T	OTOA	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 164827	NM_144672.4(OTOA):c.2229C>T (p.Ala743=)	OTOA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 218840	NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro)	OTOA (T785P +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227749	NM_144672.4(OTOA):c.2417A>C (p.Tyr806Ser)	OTOA (Y806S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3029830	NM_144672.4(OTOA):c.2672G>A (p.Arg891His)	OTOA (R567H +2 more)	Single nucleotide variant (missense variant)	OTOA-related disorder	GUncertain significance
Select item 3029705	NM_144672.4(OTOA):c.2774A>T (p.Gln925Leu)	OTOA (Q601L +2 more)	Single nucleotide variant (missense variant)	OTOA-related disorder	GUncertain significance
Select item 3048077	NM_144672.4(OTOA):c.*12G>A	OTOA	Single nucleotide variant (3 prime UTR variant)	OTOA-related disorder	GUncertain significance

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Items: 25