"GeneDx"[submitter] AND "ATP1A2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 668000	NM_000702.3(ATP1A2):c.-371A>T	ATP1A2	Single nucleotide variant	not provided	GBenign
Select item 1200959	NC_000001.11:g.160115676_160115687del	ATP1A2	Deletion	not provided	GLikely benign
Select item 1200922	NC_000001.11:g.160115692G>C	ATP1A2	Single nucleotide variant	not provided	GLikely benign
Select item 136458	NM_000702.4(ATP1A2):c.-48C>G	ATP1A2	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy 98 +4 more	GBenign
Select item 510638	NM_000702.4(ATP1A2):c.-33C>A	ATP1A2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512192	NM_000702.4(ATP1A2):c.-31C>G	ATP1A2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514472	NM_000702.4(ATP1A2):c.-30G>A	ATP1A2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 204882	NM_000702.4(ATP1A2):c.-14C>G	ATP1A2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 204902	NM_000702.4(ATP1A2):c.8G>A (p.Arg3His)	ATP1A2 (R3H)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +3 more	GConflicting classifications of pathogenicity
Select item 1213194	NM_000702.4(ATP1A2):c.12+80G>T	ATP1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678200	NM_000702.4(ATP1A2):c.12+205A>C	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668017	NM_000702.4(ATP1A2):c.12+292A>C	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180274	NM_000702.4(ATP1A2):c.13-237T>G	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670739	NM_000702.4(ATP1A2):c.13-22T>C	ATP1A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1221025	NM_000702.4(ATP1A2):c.13-15_13-12del	ATP1A2	Deletion (intron variant)	not provided	GBenign
Select item 204880	NM_000702.4(ATP1A2):c.13-13del	ATP1A2	Deletion (intron variant)	not specified	GBenign
Select item 166705	NM_000702.4(ATP1A2):c.13-11_13-8del	ATP1A2	Deletion (intron variant)	Familial hemiplegic migraine +6 more	GBenign
Select item 1224680	NM_000702.4(ATP1A2):c.13-11T>C	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1462397	NM_000702.4(ATP1A2):c.20G>A (p.Arg7His)	ATP1A2 (R7H)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 204881	NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn)	ATP1A2 (Y9N)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 432321	NM_000702.4(ATP1A2):c.29C>T (p.Ser10Leu)	ATP1A2 (S10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370081	NM_000702.4(ATP1A2):c.31C>T (p.Pro11Ser)	ATP1A2 (P11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381382	NM_000702.4(ATP1A2):c.36C>T (p.Ala12=)	ATP1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 446874	NM_000702.4(ATP1A2):c.37G>A (p.Ala13Thr)	ATP1A2 (A13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 392896	NM_000702.4(ATP1A2):c.44C>T (p.Thr15Met)	ATP1A2 (T15M)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GConflicting classifications of pathogenicity
Select item 204900	NM_000702.4(ATP1A2):c.56G>T (p.Gly19Val)	ATP1A2 (G19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307515	NM_000702.4(ATP1A2):c.59G>A (p.Gly20Asp)	ATP1A2 (G20D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511793	NM_000702.4(ATP1A2):c.108G>A (p.Glu36=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1215341	NM_000702.4(ATP1A2):c.117+83G>A	ATP1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 204909	NM_000702.4(ATP1A2):c.128A>G (p.Lys43Arg)	ATP1A2 (K43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128478	NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)	ATP1A2	Single nucleotide variant (synonymous variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +7 more	GBenign
Select item 841998	NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys)	ATP1A2 (R51C)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +3 more	GConflicting classifications of pathogenicity
Select item 372793	NM_000702.4(ATP1A2):c.152G>A (p.Arg51His)	ATP1A2 (R51H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 204901	NM_000702.4(ATP1A2):c.152G>T (p.Arg51Leu)	ATP1A2 (R51L)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 514620	NM_000702.4(ATP1A2):c.177+20G>C	ATP1A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1204550	NM_000702.4(ATP1A2):c.177+21G>C	ATP1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291203	NM_000702.4(ATP1A2):c.177+95T>C	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +5 more	GBenign
Select item 668975	NM_000702.4(ATP1A2):c.177+305G>A	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195330	NM_000702.4(ATP1A2):c.178-79G>A	ATP1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197187	NM_000702.4(ATP1A2):c.178-21C>T	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +4 more	GBenign/Likely benign
Select item 204910	NM_000702.4(ATP1A2):c.192G>T (p.Gln64His)	ATP1A2 (Q64H)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1 +4 more	GUncertain significance
Select item 12929	NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)	ATP1A2 (R65W)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +2 more	GUncertain significance
Select item 197162	NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu)	ATP1A2 (R65L)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +5 more	GConflicting classifications of pathogenicity
Select item 936280	NM_000702.4(ATP1A2):c.202G>T (p.Asp68Tyr)	ATP1A2 (D68Y)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 381935	NM_000702.4(ATP1A2):c.205G>A (p.Val69Ile)	ATP1A2 (V69I)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +2 more	GUncertain significance
Select item 204883	NM_000702.4(ATP1A2):c.246C>G (p.Pro82=)	ATP1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 98 +6 more	GBenign/Likely benign
Select item 1056164	NM_000702.4(ATP1A2):c.248C>T (p.Thr83Ile)	ATP1A2 (T83I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1313584	NM_000702.4(ATP1A2):c.259T>C (p.Trp87Arg)	ATP1A2 (W87R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204903	NM_000702.4(ATP1A2):c.274C>T (p.Arg92Cys)	ATP1A2 (R92C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284898	NM_000702.4(ATP1A2):c.275G>A (p.Arg92His)	ATP1A2 (R92H)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 648757	NM_000702.4(ATP1A2):c.280C>A (p.Leu94Ile)	ATP1A2 (L94I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 388423	NM_000702.4(ATP1A2):c.280C>T (p.Leu94Phe)	ATP1A2 (L94F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509227	NM_000702.4(ATP1A2):c.291G>T (p.Gly97=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1062809	NM_000702.4(ATP1A2):c.311T>C (p.Ile104Thr)	ATP1A2 (I104T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 293126	NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 128485	NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)	ATP1A2 (G114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 1878978	NM_000702.4(ATP1A2):c.368C>A (p.Pro123Gln)	ATP1A2 (P123Q)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 529752	NM_000702.4(ATP1A2):c.381T>C (p.Asn127=)	ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +1 more	GConflicting classifications of pathogenicity
Select item 381994	NM_000702.4(ATP1A2):c.381+12C>T	ATP1A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 668187	NM_000702.4(ATP1A2):c.381+13G>A	ATP1A2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 386953	NM_000702.4(ATP1A2):c.381+13G>T	ATP1A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 197163	NM_000702.4(ATP1A2):c.381+16C>T	ATP1A2	Single nucleotide variant (intron variant)	Alternating hemiplegia of childhood 1 +6 more	GBenign
Select item 1271154	NM_000702.4(ATP1A2):c.382-85G>A	ATP1A2	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GBenign
Select item 1236250	NM_000702.4(ATP1A2):c.382-41G>T	ATP1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 460306	NM_000702.4(ATP1A2):c.471T>C (p.Asp157=)	ATP1A2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 204904	NM_000702.4(ATP1A2):c.481A>G (p.Asn161Asp)	ATP1A2 (N161D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 386874	NM_000702.4(ATP1A2):c.495+9G>T	ATP1A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 670740	NM_000702.4(ATP1A2):c.495+65T>C	ATP1A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 670754	NM_000702.4(ATP1A2):c.495+81T>A	ATP1A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 674717	NM_000702.4(ATP1A2):c.495+96G>A	ATP1A2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 386794	NM_000702.4(ATP1A2):c.496-15T>C	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3373680	NM_000702.4(ATP1A2):c.500C>G (p.Ala167Gly)	ATP1A2, LOC126805890 (A167G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700972	NM_000702.4(ATP1A2):c.500C>A (p.Ala167Asp)	ATP1A2, LOC126805890 (A167D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391638	NM_000702.4(ATP1A2):c.513G>A (p.Arg171=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2662553	NM_000702.4(ATP1A2):c.547G>T (p.Val183Leu)	ATP1A2, LOC126805890 (V183L)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 1256582	NM_000702.4(ATP1A2):c.588C>T (p.Arg196=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 2700844	NM_000702.4(ATP1A2):c.592C>A (p.Pro198Thr)	ATP1A2, LOC126805890 (P198T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 2580627	NM_000702.4(ATP1A2):c.596C>A (p.Ala199Asp)	ATP1A2, LOC126805890 (A199D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390538	NM_000702.4(ATP1A2):c.619C>T (p.His207Tyr)	ATP1A2, LOC126805890 (H207Y)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 293129	NM_000702.4(ATP1A2):c.627T>C (p.Cys209=)	LOC126805890, ATP1A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 678075	NM_000702.4(ATP1A2):c.630+123T>C	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678076	NM_000702.4(ATP1A2):c.630+238A>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668018	NM_000702.4(ATP1A2):c.631-282A>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679999	NM_000702.4(ATP1A2):c.631-231T>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509169	NM_000702.4(ATP1A2):c.631-16A>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 98 +5 more	GBenign/Likely benign
Select item 2504687	NM_000702.4(ATP1A2):c.655G>A (p.Glu219Lys)	ATP1A2, LOC126805890 (E219K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516526	NM_000702.4(ATP1A2):c.660G>A (p.Ser220=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 3375921	NM_000702.4(ATP1A2):c.673C>A (p.Arg225Ser)	ATP1A2, LOC126805890 (R225S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 655258	NM_000702.4(ATP1A2):c.674G>A (p.Arg225His)	ATP1A2, LOC126805890 (R225H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2136230	NM_000702.4(ATP1A2):c.701C>T (p.Pro234Leu)	ATP1A2, LOC126805890 (P234L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387787	NM_000702.4(ATP1A2):c.705G>A (p.Leu235=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 588262	NM_000702.4(ATP1A2):c.712C>T (p.Arg238Cys)	ATP1A2, LOC126805890 (R238C)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +3 more	GUncertain significance
Select item 1338894	NM_000702.4(ATP1A2):c.736_739del (p.Asn246fs)	ATP1A2, LOC126805890 (N246fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 453128	NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp)	ATP1A2, LOC126805890 (N246D)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +3 more	GUncertain significance
Select item 670755	NM_000702.4(ATP1A2):c.748+84T>A	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 678077	NM_000702.4(ATP1A2):c.748+246dup	ATP1A2	Duplication (intron variant)	not provided	GBenign
Select item 1193638	NM_000702.4(ATP1A2):c.749-210A>G	ATP1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670905	NM_000702.4(ATP1A2):c.749-27C>A	ATP1A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 585463	NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met)	ATP1A2 (T263M)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2 +2 more	GPathogenic/Likely pathogenic

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