"Kariminejad - Najmabadi Pathology & Genetics Center"[submitter] AND " - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift 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 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	GJB2-related condition +15 more	GPathogenic/Likely pathogenic

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