ClinVar (all) for Orgtrack (Select 508664) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701827	NM_000307.5(POU3F4):c.220del (p.Ser74fs)	POU3F4 (S74fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	Gnot provided
Select item 1701826	NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)	POU3F4 (C327*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	Gnot provided