"Ambry Genetics"[submitter] AND "GJB2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158609	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2 (R216fs)	Deletion	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 179318	NM_004004.6(GJB2):c.470T>C (p.Met157Thr)	GJB2 (M157T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2302594	NM_004004.6(GJB2):c.308A>T (p.Lys103Met)	GJB2 (K103M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 188830	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic/Likely pathogenic
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 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 44728	NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)	GJB2 (Q7*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic