"Revvity Omics, Revvity"[submitter] AND "OTOGL"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324838	NM_001378609.3(OTOGL):c.28A>G (p.Met10Val)	OTOGL (M10V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84B	GPathogenic/Likely pathogenic
Select item 667305	NM_001378609.3(OTOGL):c.236-2A>G	OTOGL	Single nucleotide variant (splice acceptor variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2434527	NM_001378609.3(OTOGL):c.1694A>G (p.Gln565Arg)	OTOGL (Q565R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84B	GUncertain significance
Select item 1323400	NM_001378609.3(OTOGL):c.2391-2A>G	OTOGL	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 84B	GPathogenic
Select item 291138	NM_001378609.3(OTOGL):c.3213+1G>A	OTOGL	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 84B +3 more	GLikely pathogenic
Select item 504848	NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val)	OTOGL (A1136V +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1324837	NM_001378609.3(OTOGL):c.5211C>A (p.Cys1737Ter)	OTOGL (C1692* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84B	GLikely pathogenic
Select item 1429797	NM_001378609.3(OTOGL):c.5350G>A (p.Val1784Met)	OTOGL (V1784M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323401	NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter)	OTOGL (E1977* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84B	GPathogenic
Select item 1705516	NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)	OTOGL (A2010fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 84B	GPathogenic/Likely pathogenic
Select item 2434528	NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)	OTOGL (C2034R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84B	GUncertain significance