"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ATP2C2"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547871	NM_014861.4(ATP2C2):c.304G>A (p.Val102Met)	ATP2C2 (V102M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2646918	NM_014861.4(ATP2C2):c.378C>A (p.Val126=)	ATP2C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1013111	NM_014861.4(ATP2C2):c.1090T>C (p.Leu364=)	ATP2C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646919	NM_014861.4(ATP2C2):c.1123G>A (p.Val375Ile)	ATP2C2 (V224I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646920	NM_014861.4(ATP2C2):c.1644G>A (p.Gly548=)	ATP2C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715810	NM_014861.4(ATP2C2):c.1684G>A (p.Glu562Lys)	ATP2C2 (E562K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2646921	NM_014861.4(ATP2C2):c.1930-3C>T	ATP2C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646922	NM_014861.4(ATP2C2):c.2148-3C>G	ATP2C2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 721014	NM_014861.4(ATP2C2):c.2226C>T (p.Ser742=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 871974	NM_014861.4(ATP2C2):c.2227G>T (p.Ala743Ser)	ATP2C2, ATP2C2-AS1 (A743S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 714138	NM_014861.4(ATP2C2):c.2328G>A (p.Ala776=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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)	not provided +1 more	GBenign/Likely benign
Select item 493194	NM_014861.4(ATP2C2):c.2438C>T (p.Ala813Val)	ATP2C2, ATP2C2-AS1 (A662V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
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 1013112	NM_014861.4(ATP2C2):c.2630A>C (p.Tyr877Ser)	ATP2C2, ATP2C2-AS1 +1 more (Y726S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2646924	NM_014861.4(ATP2C2):c.2637C>T (p.Val879=)	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 808179	GRCh37/hg19 16q24.1(chr16:84402222-84459407)x1	ATP2C2	Copy number loss	not provided	GUncertain significance
Select item 624506	GRCh37/hg19 16q24.1(chr16:84425589-84459179)x1	ATP2C2	Copy number loss	not provided	GUncertain significance