ClinVar for PubMed (Select 20201936) - 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 447450	NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	GJB2 (V226G)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
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 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 36279	NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	GJB2 (V27I)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 104 +15 more	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 +12 more	GPathogenic

ClinVar