"Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064980	NM_001378454.1(ALMS1):c.3G>A (p.Met1Ile)	ALMS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GLikely pathogenic
Select item 451381	NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)	ALMS1 (T2259fs +1 more)	Deletion (frameshift variant)	Stickler syndrome +2 more	GPathogenic/Likely pathogenic
Select item 550971	NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)	ALMS1 (V2748G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GUncertain significance
Select item 434131	NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)	ALMS1 (T3155S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 553728	NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys)	ALMS1 (Y3269C +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 1064981	NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)	LOC126806252, ALMS1 (V3963A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance

ClinVar