"Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jo - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 229094	NM_001292063.2(OTOG):c.385G>A (p.Val129Met)	OTOG (V141M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GConflicting classifications of pathogenicity
Select item 226914	NM_001292063.2(OTOG):c.769G>A (p.Val257Ile)	OTOG (V269I +1 more)	Single nucleotide variant (missense variant)	Meniere disease +3 more	GConflicting classifications of pathogenicity
Select item 816640	NM_001292063.2(OTOG):c.2203C>A (p.Pro735Thr)	OTOG (P735T +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 229088	NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu)	OTOG (P1240L +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GConflicting classifications of pathogenicity
Select item 226891	NM_001292063.2(OTOG):c.4022G>A (p.Arg1341Gln)	OTOG (R1353Q +1 more)	Single nucleotide variant (missense variant)	Meniere disease +3 more	GConflicting classifications of pathogenicity
Select item 226894	NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe)	OTOG (L1548F +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GBenign/Likely benign
Select item 226902	NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)	OTOG (A2037V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +4 more	GConflicting classifications of pathogenicity
Select item 227796	NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln)	OTOG (R2556Q +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GConflicting classifications of pathogenicity
Select item 226920	NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His)	OTOG (R2802H +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GConflicting classifications of pathogenicity
Select item 226921	NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn)	OTOG (K2842N +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GBenign/Likely benign