Related gene-specific medical variations for Gene (Select 487) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013289	NM_004320.6(ATP2A1):c.219+5G>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 2959177	NM_004320.6(ATP2A1):c.137-7C>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2729018	NM_004320.6(ATP2A1):c.119-16T>C	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2701793	NM_004320.6(ATP2A1):c.144C>G (p.Thr48=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2688643	NM_004320.6(ATP2A1):c.2248G>A (p.Gly750Ser)	ATP2A1 (G625S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2688642	NM_004320.6(ATP2A1):c.520C>T (p.Arg174Trp)	ATP2A1 (R174W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2688641	NM_004320.6(ATP2A1):c.185T>G (p.Val62Gly)	ATP2A1, ATP2A1-AS1 (V62G)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 2684379	NM_004320.6(ATP2A1):c.352G>C (p.Ala118Pro)	ATP2A1 (A118P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684369	NM_004320.6(ATP2A1):c.1288-5C>G	ATP2A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439375	NM_004320.6(ATP2A1):c.1936G>C (p.Glu646Gln)	ATP2A1 (E521Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439374	NM_004320.6(ATP2A1):c.1813A>G (p.Lys605Glu)	ATP2A1 (K480E +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439373	NM_004320.6(ATP2A1):c.2122G>A (p.Ala708Thr)	ATP2A1 (A583T +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439372	NM_004320.6(ATP2A1):c.1636A>G (p.Met546Val)	ATP2A1 (M421V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439371	NM_004320.6(ATP2A1):c.1710C>A (p.Pro570=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy	GUncertain significance
Select item 2439369	NM_004320.6(ATP2A1):c.1430A>G (p.Gln477Arg)	ATP2A1 (Q352R +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439367	NM_004320.6(ATP2A1):c.671C>G (p.Ala224Gly)	ATP2A1 (A224G +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439366	NM_004320.6(ATP2A1):c.1667G>A (p.Arg556Gln)	ATP2A1 (R431Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439365	NM_004320.6(ATP2A1):c.1051G>A (p.Asp351Asn)	ATP2A1 (D226N +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439364	NM_004320.6(ATP2A1):c.1957T>C (p.Tyr653His)	ATP2A1 (Y528H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439363	NM_004320.6(ATP2A1):c.973C>T (p.Arg325Trp)	ATP2A1 (R200W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439362	NM_004320.6(ATP2A1):c.1778T>A (p.Phe593Tyr)	ATP2A1 (F468Y +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439361	NM_004320.6(ATP2A1):c.790A>G (p.Ile264Val)	ATP2A1 (I139V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439360	NM_004320.6(ATP2A1):c.436G>A (p.Val146Ile)	ATP2A1 (V146I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439358	NM_004320.6(ATP2A1):c.730C>A (p.Gln244Lys)	ATP2A1 (Q119K +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439356	NM_004320.6(ATP2A1):c.1676T>C (p.Leu559Pro)	ATP2A1 (L434P +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439355	NM_004320.6(ATP2A1):c.1526G>A (p.Gly509Asp)	ATP2A1 (G384D +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439354	NM_004320.6(ATP2A1):c.554T>C (p.Val185Ala)	ATP2A1 (V185A +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439353	NM_004320.6(ATP2A1):c.856G>A (p.Gly286Ser)	ATP2A1 (G161S +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439352	NM_004320.6(ATP2A1):c.2480C>T (p.Pro827Leu)	ATP2A1 (P702L +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439351	NM_004320.6(ATP2A1):c.2012G>A (p.Arg671Gln)	ATP2A1 (R546Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439349	NM_004320.6(ATP2A1):c.2323A>C (p.Ile775Leu)	ATP2A1 (I650L +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439348	NM_004320.6(ATP2A1):c.632G>T (p.Gly211Val)	ATP2A1 (G211V +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2439347	NM_004320.6(ATP2A1):c.401G>A (p.Arg134His)	ATP2A1 (R134H +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GUncertain significance
Select item 2413387	NM_004320.6(ATP2A1):c.137-19C>T	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2202618	NM_004320.6(ATP2A1):c.219+20_219+21del	ATP2A1, ATP2A1-AS1	Deletion (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 2099007	NM_004320.6(ATP2A1):c.136+20G>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 2027385	NM_004320.6(ATP2A1):c.137-14G>C	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	Brody myopathy	GLikely benign
Select item 1956532	NM_004320.6(ATP2A1):c.219+10G>A	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1939229	NM_004320.6(ATP2A1):c.119-15_119-13del	ATP2A1, ATP2A1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1937879	NM_004320.6(ATP2A1):c.209G>A (p.Cys70Tyr)	ATP2A1, ATP2A1-AS1 (C70Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 1912289	NM_004320.6(ATP2A1):c.177C>T (p.Asp59=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1639026	NM_004320.6(ATP2A1):c.207A>C (p.Ala69=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1630460	NM_004320.6(ATP2A1):c.137-9C>T	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1579216	NM_004320.6(ATP2A1):c.137-11T>C	ATP2A1-AS1, ATP2A1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1568138	NM_004320.6(ATP2A1):c.198C>T (p.Leu66=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1525393	NM_004320.6(ATP2A1):c.201G>A (p.Leu67=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 1417388	NM_004320.6(ATP2A1):c.139A>G (p.Lys47Glu)	ATP2A1, ATP2A1-AS1 (K47E)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
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 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 1323959	NM_004320.6(ATP2A1):c.2682del (p.Glu895fs)	ATP2A1 (E770fs +1 more)	Deletion (frameshift variant)	Brody myopathy	GLikely pathogenic
Select item 1323958	NM_004320.6(ATP2A1):c.324+1G>A	ATP2A1	Single nucleotide variant (splice donor variant)	Brody myopathy	GLikely pathogenic
Select item 1323957	NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter)	ATP2A1 (Y733* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GLikely pathogenic
Select item 1323806	NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter)	ATP2A1, ATP2A1-AS1 (W50*)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GPathogenic
Select item 1323799	NM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter)	ATP2A1 (Y733* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GPathogenic
Select item 1323761	NM_004320.6(ATP2A1):c.1216C>T (p.Gln406Ter)	ATP2A1 (Q281* +1 more)	Single nucleotide variant (nonsense)	Brody myopathy	GLikely pathogenic
Select item 1257465	NM_004320.6(ATP2A1):c.136+106C>G	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256125	NM_004320.6(ATP2A1):c.-2C>T	ATP2A1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1156241	NM_004320.6(ATP2A1):c.129T>C (p.Ala43=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (synonymous variant)	Brody myopathy	GLikely benign
Select item 1110888	NM_004320.6(ATP2A1):c.137-10C>T	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 1099147	NM_004320.6(ATP2A1):c.198C>G (p.Leu66=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 965556	NM_004320.6(ATP2A1):c.128C>T (p.Ala43Val)	ATP2A1-AS1, ATP2A1 (A43V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 954780	NM_004320.6(ATP2A1):c.137-5C>G	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 719515	NM_004320.6(ATP2A1):c.195C>T (p.Leu65=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 648380	NM_004320.6(ATP2A1):c.208T>C (p.Cys70Arg)	ATP2A1, ATP2A1-AS1 (C70R)	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GUncertain significance
Select item 585454	NM_004320.6(ATP2A1):c.159G>A (p.Val53=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 580368	NM_004320.6(ATP2A1):c.136+2dup	ATP2A1, ATP2A1-AS1	Duplication (splice donor variant)	Brody myopathy	GUncertain significance
Select item 577576	NM_004320.6(ATP2A1):c.195CCT[1] (p.Leu67del)	ATP2A1, ATP2A1-AS1 (L67del)	Microsatellite (non-coding transcript variant +1 more)	Brody myopathy +1 more	GConflicting classifications of pathogenicity
Select item 532736	NM_004320.6(ATP2A1):c.204C>T (p.Ala68=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 532733	NM_004320.6(ATP2A1):c.195C>A (p.Leu65=)	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 464074	NM_004320.6(ATP2A1):c.137-4C>G	ATP2A1, ATP2A1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brody myopathy	GLikely benign
Select item 318766	NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln)	ATP2A1, ATP2A1-AS1 (R63Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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

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Items: 72