Related gene-specific medical variations for Gene (Select 23250) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2643969	NM_015205.3(ATP11A):c.*10-51G>A	ATP11A, LOC128772390 (A1113T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2582641	NM_015205.3(ATP11A):c.80A>G (p.Tyr27Cys)	ATP11A (Y27C)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 84	GUncertain significance
Select item 2576073	NM_015205.3(ATP11A):c.1810-3C>T	ATP11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2522173	NM_015205.3(ATP11A):c.*10-41G>A	ATP11A, LOC128772390 (R1117Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2518842	NM_015205.3(ATP11A):c.3061G>A (p.Ala1021Thr)	LOC126861868, ATP11A (A1021T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481074	NM_015205.3(ATP11A):c.3075C>G (p.His1025Gln)	ATP11A, LOC126861868 (H1025Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527862	NM_015205.3(ATP11A):c.11G>A (p.Ser4Asn)	ATP11A, LOC130010167 (S4N)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 84	GPathogenic
Select item 787109	NM_015205.3(ATP11A):c.*10-20C>G	ATP11A, LOC128772390 (T1123S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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