"Revvity Omics, Revvity"[submitter] AND "GJB2"[gene] - ClinVar

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Items: 29

	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 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Mutilating keratoderma +12 more	GPathogenic/Likely pathogenic
Select item 44761	NC_000013.11:g.20188982_20188990delinsGAATGTCATGAACACTG	GJB2	Indel	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	GJB2-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 21388	NM_004004.6(GJB2):c.487A>G (p.Met163Val)	GJB2 (M163V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +4 more	GConflicting classifications of pathogenicity
Select item 2137454	NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)	GJB2 (Y152*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	Rare genetic deafness +11 more	GPathogenic
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Mutilating keratoderma +11 more	GPathogenic/Likely pathogenic
Select item 195204	NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)	GJB2 (R127L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44737	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	GJB2 (K105fs)	Deletion	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GPathogenic/Likely pathogenic
Select item 158607	NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	GJB2 (H100Y)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 2432122	NM_004004.6(GJB2):c.293G>A (p.Arg98Gln)	GJB2 (R98Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Mutilating keratoderma +11 more	GPathogenic/Likely pathogenic
Select item 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	Rare genetic deafness +11 more	GPathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Rare genetic deafness +14 more	GPathogenic
Select item 631697	NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)	GJB2 (T86R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 167134	NM_004004.6(GJB2):c.250G>T (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GPathogenic
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA 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 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	Rare genetic deafness +12 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 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 21387	NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	GJB2 (G12V)	Single nucleotide variant (missense variant)	Rare genetic deafness +11 more	GPathogenic/Likely pathogenic
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 44729	NM_004004.6(GJB2):c.1A>G (p.Met1Val)	GJB2 (M1V)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 375406	NM_004004.6(GJB2):c.-22-2A>C	GJB2	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 228700	NM_004004.6(GJB2):c.-22-6T>C	GJB2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Rare genetic deafness +14 more	GPathogenic/Likely pathogenic

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Items: 29