C2673759[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 29662	NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	GJB2 (R184Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +6 more	GPathogenic/Likely pathogenic
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Rare genetic deafness +10 more	GConflicting classifications of pathogenicity
Select item 21388	NM_004004.6(GJB2):c.487A>G (p.Met163Val)	GJB2 (M163V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 17017	NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	GJB2 (R143Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +2 more	GPathogenic/Likely pathogenic
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +11 more	GPathogenic
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GPathogenic
Select item 21385	NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)	GJB2 (S113R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significanceFDA Recognized database
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +14 more	GPathogenic
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenicFDA Recognized database
Select item 17001	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	GJB2 (W77*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic
Select item 17027	NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	GJB2 (R75Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 17010	NM_004004.6(GJB2):c.167del (p.Leu56fs)	GJB2 (L56fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenicFDA 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	GPathogenicFDA 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	GPathogenicFDA Recognized database
Select item 21389	NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	GJB2 (S19T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenicFDA Recognized database
Select item 21387	NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	GJB2 (G12V)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +11 more	GPathogenic/Likely pathogenic
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenicFDA Recognized database
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Nonsyndromic genetic hearing loss +15 more	GPathogenic/Likely pathogenic
Select item 5546	del(GJB6-D13S1830)	CRYL1, GJB2 +15 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B +2 more	GPathogenic
Select item 424855	NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)	GJB6 (A40V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 253028	NC_000013.11:g.20365207_20496559del	LOC130009317, LOC130009318 +9 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 253027	Single allele	GJB2	Variation	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic

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Items: 22