"Fulgent Genetics, Fulgent Genetics"[submitter] AND "OTOG"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 432317	NM_001292063.2(OTOG):c.292+4A>C	OTOG	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GUncertain significance
Select item 226893	NM_001292063.2(OTOG):c.385+7C>T	OTOG	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GBenign
Select item 229084	NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro)	OTOG (Q407P +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1392869	NM_001292063.2(OTOG):c.2080G>A (p.Ala694Thr)	OTOG (A694T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +1 more	GUncertain significance
Select item 1413599	NM_001292063.2(OTOG):c.2084C>T (p.Ser695Phe)	OTOG (S695F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 417941	NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)	OTOG (Q834* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 505150	NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter)	OTOG (R1165* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GPathogenic/Likely pathogenic
Select item 227776	NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=)	OTOG	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 504783	NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln)	OTOG (R1425Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1203854	NM_001292063.2(OTOG):c.5966C>G (p.Ala1989Gly)	OTOG (A1989G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +1 more	GUncertain significance
Select item 451001	NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His)	OTOG (R2072H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 502189	NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met)	OTOG (V2073M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 666738	NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile)	OTOG (T2288I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GLikely benign
Select item 1191941	NM_001292063.2(OTOG):c.7464C>T (p.Cys2488=)	OTOG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 488980	NM_001292063.2(OTOG):c.7693+1G>A	OTOG	Single nucleotide variant (splice donor variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1400500	NM_001292063.2(OTOG):c.8119G>A (p.Val2707Met)	OTOG (V2707M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +1 more	GUncertain significance
Select item 229108	NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met)	OTOG (T2794M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance