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

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

Search results

Items: 1 to 100 of 161

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 59294	GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3	ATP2A1, ATP2A1-AS1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59295	GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3	ATP2A1, ATP2A1-AS1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59642	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3	ATP2A1, ATP2A1-AS1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 145955	GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3	ATP2A1, ATP2A1-AS1 +34 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59296	GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 59683	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3	ATP2A1, ATP2A1-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 671198	NM_173201.3(ATP2A1):c.-507C>A	ATP2A1	Single nucleotide variant	not provided	GBenign
Select item 1291696	NC_000016.10:g.28878380dup	ATP2A1	Duplication	not provided	GBenign
Select item 1178419	NC_000016.10:g.28878387del	ATP2A1	Deletion	not provided	GBenign
Select item 318764	NM_004320.6(ATP2A1):c.-22C>T	ATP2A1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 384851	NM_004320.6(ATP2A1):c.-12G>A	ATP2A1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 514365	NM_004320.6(ATP2A1):c.-7G>A	ATP2A1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 385830	NM_004320.6(ATP2A1):c.114C>T (p.Leu38=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 423902	NM_004320.6(ATP2A1):c.118+2dup	ATP2A1	Duplication (splice donor variant)	not specified	GUncertain significance
Select item 678078	NM_004320.6(ATP2A1):c.118+21C>A	ATP2A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1257465	NM_004320.6(ATP2A1):c.136+106C>G	ATP2A1, ATP2A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 385996	NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly)	ATP2A1 (E82G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 387884	NM_004320.6(ATP2A1):c.272C>T (p.Pro91Leu)	ATP2A1 (P91L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1260955	NM_004320.6(ATP2A1):c.325-254G>A	ATP2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678079	NM_004320.6(ATP2A1):c.325-240A>G	ATP2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678080	NM_004320.6(ATP2A1):c.325-201T>C	ATP2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287359	NM_004320.6(ATP2A1):c.325-45_325-44del	ATP2A1	Microsatellite (intron variant)	not provided	GBenign
Select item 704450	NM_004320.6(ATP2A1):c.342C>T (p.Asn114=)	ATP2A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 392803	NM_004320.6(ATP2A1):c.422A>G (p.Lys141Arg)	ATP2A1 (K141R +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 318768	NM_004320.6(ATP2A1):c.450C>T (p.Ile150=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 385145	NM_004320.6(ATP2A1):c.463+16G>A	ATP2A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1293734	NM_004320.6(ATP2A1):c.463+169del	ATP2A1	Deletion (intron variant)	not provided	GBenign
Select item 1258516	NM_004320.6(ATP2A1):c.463+317C>A	ATP2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680012	NM_004320.6(ATP2A1):c.464-236G>A	ATP2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198793	NM_004320.6(ATP2A1):c.464-228G>C	ATP2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678426	NM_004320.6(ATP2A1):c.464-225C>T	ATP2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 567860	NM_004320.6(ATP2A1):c.521G>A (p.Arg174Gln)	ATP2A1 (R174Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 678081	NM_004320.6(ATP2A1):c.544+39C>T	ATP2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673575	NM_004320.6(ATP2A1):c.545-295A>G	ATP2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245715	NM_004320.6(ATP2A1):c.545-178dup	ATP2A1	Duplication (intron variant)	not provided	GBenign
Select item 1182372	NM_004320.6(ATP2A1):c.545-197C>A	ATP2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217168	NM_004320.6(ATP2A1):c.545-178del	ATP2A1	Deletion (intron variant)	not provided	GLikely benign
Select item 451954	NM_004320.6(ATP2A1):c.580G>A (p.Val194Ile)	ATP2A1 (V194I +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +2 more	GUncertain significance
Select item 510011	NM_004320.6(ATP2A1):c.630+16C>G	ATP2A1	Single nucleotide variant (intron variant)	Brody myopathy +1 more	GBenign/Likely benign
Select item 508432	NM_004320.6(ATP2A1):c.631-17C>T	ATP2A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 514823	NM_004320.6(ATP2A1):c.631-10C>T	ATP2A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 393090	NM_004320.6(ATP2A1):c.640A>G (p.Ile214Val)	ATP2A1 (I214V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 389436	NM_004320.6(ATP2A1):c.658T>C (p.Leu220=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 96544	NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 96545	NM_004320.6(ATP2A1):c.678T>C (p.Thr226=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +2 more	GBenign
Select item 430333	NM_004320.6(ATP2A1):c.691G>A (p.Glu231Lys)	ATP2A1 (E231K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306780	NM_004320.6(ATP2A1):c.766T>G (p.Phe256Val)	ATP2A1 (F131V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 387826	NM_004320.6(ATP2A1):c.839A>G (p.Asn280Ser)	ATP2A1 (N280S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1424465	NM_004320.6(ATP2A1):c.840C>A (p.Asn280Lys)	ATP2A1 (N155K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 387418	NM_004320.6(ATP2A1):c.870C>T (p.Arg290=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 429328	NM_004320.6(ATP2A1):c.871G>A (p.Gly291Arg)	ATP2A1 (G291R +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 1216023	NM_004320.6(ATP2A1):c.928+267T>G	ATP2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668274	NM_004320.6(ATP2A1):c.929-38_929-14del	ATP2A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1302782	NM_004320.6(ATP2A1):c.929-23_929-12del	ATP2A1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1314010	NM_004320.6(ATP2A1):c.997G>A (p.Val333Ile)	ATP2A1 (V208I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512788	NM_004320.6(ATP2A1):c.1095+11G>C	ATP2A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 679002	NM_004320.6(ATP2A1):c.1095+185C>G	ATP2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315035	NM_004320.6(ATP2A1):c.1156G>A (p.Gly386Ser)	ATP2A1 (G261S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384410	NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 392313	NM_004320.6(ATP2A1):c.1184+1G>A	ATP2A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 679428	NM_004320.6(ATP2A1):c.1185-95C>T	ATP2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432237	NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp)	ATP2A1 (R403W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GConflicting classifications of pathogenicity
Select item 318774	NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln)	ATP2A1 (R403Q +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +3 more	GUncertain significance
Select item 464070	NM_004320.6(ATP2A1):c.1218G>A (p.Gln406=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +1 more	GLikely benign
Select item 546520	NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +1 more	GUncertain significance
Select item 678082	NM_004320.6(ATP2A1):c.1288-59G>C	ATP2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679003	NM_004320.6(ATP2A1):c.1288-30G>A	ATP2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668678	NM_004320.6(ATP2A1):c.1296T>C (p.Gly432=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 515725	NM_004320.6(ATP2A1):c.1323C>T (p.Thr441=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 318775	NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=)	ATP2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392455	NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met)	ATP2A1 (T457M +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 513565	NM_004320.6(ATP2A1):c.1389G>A (p.Ser463=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 426432	NM_004320.6(ATP2A1):c.1418C>T (p.Ser473Leu)	ATP2A1 (S473L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1205064	NM_004320.6(ATP2A1):c.1420-210A>G	ATP2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506844	NM_004320.6(ATP2A1):c.1506A>G (p.Lys502=)	ATP2A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 389426	NM_004320.6(ATP2A1):c.1540G>C (p.Val514Leu)	ATP2A1 (V514L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 432575	NM_004320.6(ATP2A1):c.1546-6T>A	ATP2A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 318776	NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +1 more	GConflicting classifications of pathogenicity
Select item 423726	NM_004320.6(ATP2A1):c.1561G>A (p.Val521Ile)	ATP2A1 (V521I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1309180	NM_004320.6(ATP2A1):c.1586G>A (p.Arg529Gln)	ATP2A1 (R404Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96540	NM_004320.6(ATP2A1):c.1614G>A (p.Thr538=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +2 more	GBenign
Select item 464077	NM_004320.6(ATP2A1):c.1619C>T (p.Pro540Leu)	ATP2A1 (P540L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 952657	NM_004320.6(ATP2A1):c.1666C>T (p.Arg556Trp)	ATP2A1 (R431W +1 more)	Single nucleotide variant (missense variant)	Brody myopathy +1 more	GUncertain significance
Select item 384079	NM_004320.6(ATP2A1):c.1706C>T (p.Thr569Ile)	ATP2A1 (T569I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 318777	NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=)	ATP2A1	Single nucleotide variant (synonymous variant)	Brody myopathy +1 more	GConflicting classifications of pathogenicity
Select item 446878	NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs)	ATP2A1 (S456fs +1 more)	Microsatellite (frameshift variant)	ATP2A1-related disorder +2 more	GPathogenic
Select item 423320	NM_004320.6(ATP2A1):c.1756G>A (p.Glu586Lys)	ATP2A1 (E586K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96541	NM_004320.6(ATP2A1):c.1764+6del	ATP2A1	Deletion (intron variant)	Brody myopathy +2 more	GBenign/Likely benign
Select item 1217184	NM_004320.6(ATP2A1):c.1764+152G>A	ATP2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267795	NM_004320.6(ATP2A1):c.1765-262del	ATP2A1	Deletion (intron variant)	not provided	GBenign

<< First< Prev

Page of 2