"Eurofins Ntd Llc (ga)"[submitter] AND "OTOGL"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291136	NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr)	OTOGL (P3T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 504844	NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu)	OTOGL (S278L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 501971	NM_001378609.3(OTOGL):c.1395-3T>C	OTOGL	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 84B +1 more	GUncertain significance
Select item 498660	NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter)	OTOGL (W638* +1 more)	Single nucleotide variant (nonsense)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 226936	NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291087	NM_001378609.3(OTOGL):c.3103C>T (p.Gln1035Ter)	OTOGL (Q1035* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 291138	NM_001378609.3(OTOGL):c.3213+1G>A	OTOGL	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 499957	NM_001378609.3(OTOGL):c.3213+10C>T	OTOGL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 226939	NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=)	OTOGL	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 226941	NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr)	OTOGL (I1110T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 226942	NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val)	OTOGL (I1134V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 501890	NM_001378609.3(OTOGL):c.3451-20T>A	OTOGL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 500879	NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)	OTOGL (D1154G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 499792	NM_001378609.3(OTOGL):c.3635-2A>G	OTOGL	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 501577	NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 594798	NM_001378609.3(OTOGL):c.4746T>A (p.Asn1582Lys)	OTOGL (N1573K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 500290	NM_001378609.3(OTOGL):c.5648G>A (p.Gly1883Asp)	OTOGL (G1874D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498662	NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr)	OTOGL (I1892T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595209	NM_001378609.3(OTOGL):c.5728A>T (p.Thr1910Ser)	OTOGL (T1865S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 499791	NM_001378609.3(OTOGL):c.6019+5G>A	OTOGL	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 84B +1 more	GConflicting classifications of pathogenicity
Select item 501576	NM_001378609.3(OTOGL):c.6132A>G (p.Pro2044=)	OTOGL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Items: 21