ClinVar for MedGen (Select 854638) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327581	NM_015205.3(ATP11A):c.3322_3327+2dup	ATP11A	Duplication (splice donor variant)	Hearing loss, autosomal dominant 84 +1 more	GPathogenic
Select item 501980	NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val)	COL11A2 (A484V +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 33 +1 more	GConflicting classifications of pathogenicity