Related gene-specific medical variations for Gene (Select 5456) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360191	NM_000307.5(POU3F4):c.907C>G (p.Pro303Ala)	POU3F4 (P303A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582792	NM_000307.5(POU3F4):c.80dup (p.Ser29fs)	POU3F4 (S29fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
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
Select item 811912	NM_000307.5(POU3F4):c.24C>T (p.Pro8=)	POU3F4	Single nucleotide variant (synonymous variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely benign
Select item 560726	NM_000307.5(POU3F4):c.249dup (p.Gly84fs)	POU3F4 (G84fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic

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