"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATP2A2"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046189	NM_170665.4(ATP2A2):c.867C>T (p.Ile289=)	ATP2A2	Single nucleotide variant (synonymous variant)	ATP2A2-related disorder	GLikely benign
Select item 307170	NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=)	ATP2A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 804551	NM_170665.4(ATP2A2):c.1287+3A>G	ATP2A2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 307172	NM_170665.4(ATP2A2):c.1420-8C>G	ATP2A2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2630147	NM_170665.4(ATP2A2):c.1484C>T (p.Ser495Leu)	ATP2A2 (S370L +2 more)	Single nucleotide variant (missense variant)	ATP2A2-related disorder	GLikely pathogenic
Select item 3039727	NM_170665.4(ATP2A2):c.1494T>C (p.Cys498=)	ATP2A2	Single nucleotide variant (synonymous variant)	ATP2A2-related disorder	GLikely benign
Select item 3047553	NM_170665.4(ATP2A2):c.2119G>C (p.Ala707Pro)	ATP2A2 (A582P +2 more)	Single nucleotide variant (missense variant)	ATP2A2-related disorder	GLikely pathogenic
Select item 883130	NM_170665.4(ATP2A2):c.2295G>A (p.Ser765=)	ATP2A2	Single nucleotide variant (synonymous variant)	Keratosis follicularis +2 more	GBenign/Likely benign
Select item 3037988	NM_170665.4(ATP2A2):c.2521+10A>G	ATP2A2	Single nucleotide variant (intron variant)	ATP2A2-related disorder	GLikely benign
Select item 2046508	NM_170665.4(ATP2A2):c.2697G>T (p.Ala899=)	ATP2A2, LOC126861638	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 446883	NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=)	ATP2A2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1205978	NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val)	ATP2A2 (I1022V)	Single nucleotide variant (missense variant +1 more)	ATP2A2-related disorder	GLikely benign