"OMIM"[submitter] AND "ATP2A1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1335911	NM_004320.6(ATP2A1):c.178del (p.Leu60fs)	ATP2A1, ATP2A1-AS1 (L60fs)	Deletion (non-coding transcript variant +1 more)	Brody myopathy	GPathogenic
Select item 1335912	NM_004320.6(ATP2A1):c.200T>G (p.Leu67Arg)	ATP2A1, ATP2A1-AS1 (L67R)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GPathogenic
Select item 17804	NM_004320.6(ATP2A1):c.219+1G>C	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GPathogenic
Select item 17805	NM_004320.6(ATP2A1):c.440del (p.Pro147fs)	ATP2A1 (P22fs +1 more)	Deletion (frameshift variant)	Brody myopathy	GPathogenic
Select item 17802	NM_004320.6(ATP2A1):c.592C>T (p.Arg198Ter)	ATP2A1 (R198* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GPathogenic
Select item 1335913	NM_004320.6(ATP2A1):c.704T>A (p.Ile235Asn)	ATP2A1 (I235N +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GPathogenic
Select item 546520	NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 17803	NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter)	ATP2A1 (C675* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GPathogenic
Select item 17806	NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu)	ATP2A1 (P789L +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GPathogenic
Select item 574452	NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys)	ATP2A1 (E982K +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance