ClinVar for PubMed (Select 15790391) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590799	NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)	GJB2 (W172C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 557805	NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)	GJB2 (W172R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 177819	NM_004004.5(GJB2):c.[79G>A;341A>G]	GJB2 (V27I +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign/Likely benign
Select item 44760	NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	GJB2 (F191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance FDA Recognized database
Select item 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GBenign/Likely benign
Select item 17027	NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	GJB2 (R75Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic

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