ClinVar for PubMed (Select 15952212) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1507837	NM_004004.6(GJB2):c.176G>T (p.Gly59Val)	GJB2 (G59V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 163520	NM_004004.6(GJB2):c.176G>A (p.Gly59Asp)	GJB2 (G59D)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 17034	NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)	GJB2 (G59S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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