C1844678[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44736	NM_004004.6(GJB2):c.299_300del (p.His100fs)	GJB2 (H100fs)	Deletion (frameshift variant)	not provided +10 more	GPathogenic
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 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 44767	NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	GJB2 (W3*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic/Likely pathogenic
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 1A +15 more	GPathogenic/Likely pathogenic
Select item 228391	NM_000307.5(POU3F4):c.607_610del (p.Gln203fs)	POU3F4 (Q203fs)	Microsatellite (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher +1 more	GPathogenic

ClinVar