"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ATP2A1"[gene] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464069	NM_004320.6(ATP2A1):c.109G>A (p.Gly37Ser)	ATP2A1 (G37S)	Single nucleotide variant (missense variant)	Brody myopathy +2 more	GUncertain significance
Select item 653110	NM_004320.6(ATP2A1):c.971G>A (p.Arg324His)	ATP2A1 (R199H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 464075	NM_004320.6(ATP2A1):c.1419G>A (p.Ser473=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 464076	NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His)	ATP2A1 (R476H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1424128	NM_004320.6(ATP2A1):c.1510T>G (p.Ser504Ala)	ATP2A1 (S379A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1494911	NM_004320.6(ATP2A1):c.1916T>C (p.Ile639Thr)	ATP2A1 (I514T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 532729	NM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln)	ATP2A1 (R667Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 1302442	NM_004320.6(ATP2A1):c.2230G>A (p.Val744Ile)	ATP2A1 (V619I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 318785	NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2008523	NM_004320.6(ATP2A1):c.2450T>G (p.Met817Arg)	ATP2A1 (M692R +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance