Related gene-specific medical variations for Gene (Select 491) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246977	NC_000003.11:g.(?_10417094)_(10417348_?)dup	ATP2B2	Duplication	not provided	GLikely pathogenic
Select item 3246976	NC_000003.11:g.(?_10443755)_(10444052_?)del	ATP2B2	Deletion	not provided	GUncertain significance
Select item 2582656	NM_001001331.4(ATP2B2):c.2501G>A (p.Gly834Asp)	ATP2B2 (G789D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 2576075	NM_001001331.4(ATP2B2):c.1829G>C (p.Ser610Thr)	ATP2B2 (S565T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439377	NM_001001331.4(ATP2B2):c.1046A>G (p.Lys349Arg)	ATP2B2 (K304R +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 82	GUncertain significance
Select item 994485	NM_001001331.4(ATP2B2):c.2107G>T (p.Val703Leu)	ATP2B2 (V658L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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