C2675235[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +13 more	GPathogenic
Select item 17010	NM_004004.6(GJB2):c.167del (p.Leu56fs)	GJB2 (L56fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17023	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	GJB2 (V37I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17000	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2 (M34T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17002	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	GJB2 (W24*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 2500795	NC_000013.11:g.20222821_20531941del	CRYL1, GJB6 +14 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B	GPathogenic
Select item 1699284	NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu)	GJB6 (A198E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GUncertain significance