"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATP2C2-AS - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049310	NM_014861.4(ATP2C2):c.2217-5C>T	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 718293	NM_014861.4(ATP2C2):c.2232G>A (p.Leu744=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 3034704	NM_014861.4(ATP2C2):c.2250C>T (p.Ser750=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 743472	NM_014861.4(ATP2C2):c.2265G>T (p.Leu755=)	ATP2C2-AS1, ATP2C2	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder +1 more	GLikely benign
Select item 791337	NM_014861.4(ATP2C2):c.2319G>T (p.Gly773=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder +1 more	GBenign
Select item 3040688	NM_014861.4(ATP2C2):c.2324C>A (p.Pro775Gln)	ATP2C2, ATP2C2-AS1 (P624Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GBenign
Select item 780188	NM_014861.4(ATP2C2):c.2333+9G>T	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 3046183	NM_014861.4(ATP2C2):c.2333+112T>A	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 3045988	NM_014861.4(ATP2C2):c.2333+148A>G	ATP2C2, ATP2C2-AS1 (T788A)	Single nucleotide variant (non-coding transcript variant +2 more)	ATP2C2-related disorder	GLikely benign
Select item 3040059	NM_014861.4(ATP2C2):c.2333+208T>C	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	ATP2C2-related disorder	GLikely benign
Select item 1304241	NM_014861.4(ATP2C2):c.2334-8C>T	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder +1 more	GBenign
Select item 2646923	NM_014861.4(ATP2C2):c.2338G>T (p.Gly780Trp)	ATP2C2, ATP2C2-AS1 (G629W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder +1 more	GBenign/Likely benign
Select item 782019	NM_014861.4(ATP2C2):c.2389C>T (p.Arg797Trp)	ATP2C2, ATP2C2-AS1 (R646W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 3057983	NM_014861.4(ATP2C2):c.2481+7G>A	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 789227	NM_014861.4(ATP2C2):c.2482-2A>C	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3041238	NM_014861.4(ATP2C2):c.2526G>A (p.Thr842=)	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 3029063	NM_014861.4(ATP2C2):c.2580+1G>A	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GUncertain significance
Select item 3048454	NM_014861.4(ATP2C2):c.2601C>T (p.Ile867=)	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 743246	NM_014861.4(ATP2C2):c.2634C>T (p.Ser878=)	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign