Related gene-specific medical variations for Gene (Select 477) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065454	NM_000702.4(ATP1A2):c.2135C>T (p.Thr712Met)	ATP1A2 (T712M)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 3065346	NM_000702.4(ATP1A2):c.1465T>C (p.Ser489Pro)	ATP1A2 (S489P)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 3064837	NM_000702.4(ATP1A2):c.12+2T>A	ATP1A2	Single nucleotide variant (splice donor variant)	Migraine, familial hemiplegic, 2	GLikely pathogenic
Select item 3012944	NM_000702.4(ATP1A2):c.544G>A (p.Glu182Lys)	ATP1A2, LOC126805890 (E182K)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2996088	NM_000702.4(ATP1A2):c.748+3G>T	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2919185	NM_000702.4(ATP1A2):c.582A>T (p.Gly194=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2901820	NM_000702.4(ATP1A2):c.642A>T (p.Ser214=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2841042	NM_000702.4(ATP1A2):c.554T>C (p.Val185Ala)	ATP1A2, LOC126805890 (V185A)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2819422	NM_000702.4(ATP1A2):c.641C>T (p.Ser214Leu)	LOC126805890, ATP1A2 (S214L)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2815479	NM_000702.4(ATP1A2):c.496C>A (p.Gln166Lys)	ATP1A2, LOC126805890 (Q166K)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2784636	NM_000702.4(ATP1A2):c.573G>A (p.Val191=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2740744	NM_000702.4(ATP1A2):c.631-10_631-4del	ATP1A2, LOC126805890	Deletion (intron variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2734006	NM_000702.4(ATP1A2):c.605G>A (p.Arg202Gln)	ATP1A2, LOC126805890 (R202Q)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GPathogenic
Select item 2700844	NM_000702.4(ATP1A2):c.592C>A (p.Pro198Thr)	ATP1A2, LOC126805890 (P198T)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2691439	NM_000702.4(ATP1A2):c.671C>A (p.Thr224Asn)	ATP1A2, LOC126805890 (T224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688639	NM_000702.4(ATP1A2):c.361G>A (p.Asp121Asn)	ATP1A2 (D121N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662553	NM_000702.4(ATP1A2):c.547G>T (p.Val183Leu)	ATP1A2, LOC126805890 (V183L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2637617	NM_000702.4(ATP1A2):c.695A>G (p.Glu232Gly)	ATP1A2, LOC126805890 (E232G)	Single nucleotide variant (missense variant)	not specified	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 2504687	NM_000702.4(ATP1A2):c.655G>A (p.Glu219Lys)	ATP1A2, LOC126805890 (E219K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439342	NM_000702.4(ATP1A2):c.1250C>T (p.Thr417Met)	ATP1A2 (T417M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439340	NM_000702.4(ATP1A2):c.2743T>G (p.Cys915Gly)	ATP1A2 (C915G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435750	NM_000702.4(ATP1A2):c.2070del (p.Ser691fs)	ATP1A2 (S691fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2412820	NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)	ATP1A2, LOC126805890 (S220L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2202866	NM_000702.4(ATP1A2):c.520G>A (p.Glu174Lys)	ATP1A2, LOC126805890 (E174K)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2202400	NM_000702.4(ATP1A2):c.623G>A (p.Gly208Asp)	ATP1A2, LOC126805890 (G208D)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2169557	NM_000702.4(ATP1A2):c.660G>C (p.Ser220=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2164190	NM_000702.4(ATP1A2):c.672C>G (p.Thr224=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2163777	NM_000702.4(ATP1A2):c.748+20C>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
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 2122598	NM_000702.4(ATP1A2):c.511C>T (p.Arg171Trp)	ATP1A2, LOC126805890 (R171W)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2087598	NM_000702.4(ATP1A2):c.748+16G>T	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 2044286	NM_000702.4(ATP1A2):c.568G>A (p.Glu190Lys)	ATP1A2, LOC126805890 (E190K)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2028164	NM_000702.4(ATP1A2):c.744T>C (p.Val248=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 2011853	NM_000702.4(ATP1A2):c.524del (p.Lys175fs)	ATP1A2, LOC126805890 (K175fs)	Deletion (frameshift variant)	Familial hemiplegic migraine	GPathogenic
Select item 1981804	NM_000702.4(ATP1A2):c.682G>A (p.Glu228Lys)	ATP1A2, LOC126805890 (E228K)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1960813	NM_000702.4(ATP1A2):c.748+21dup	ATP1A2, LOC126805890	Duplication (intron variant)	Familial hemiplegic migraine	GBenign
Select item 1928120	NM_000702.4(ATP1A2):c.650C>T (p.Thr217Ile)	ATP1A2, LOC126805890 (T217I)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1911776	NM_000702.4(ATP1A2):c.631-14T>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1759105	NM_000702.4(ATP1A2):c.748+1G>C	ATP1A2, LOC126805890	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1750247	NM_000702.4(ATP1A2):c.587G>A (p.Arg196His)	ATP1A2, LOC126805890 (R196H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1606547	NM_000702.4(ATP1A2):c.496-14G>T	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1581680	NM_000702.4(ATP1A2):c.748+18C>T	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1568575	NM_000702.4(ATP1A2):c.631-16A>T	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1565883	NM_000702.4(ATP1A2):c.681C>T (p.Pro227=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +1 more	GLikely benign
Select item 1549978	NM_000702.4(ATP1A2):c.631-17C>T	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1545211	NM_000702.4(ATP1A2):c.631-14T>C	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1540277	NM_000702.4(ATP1A2):c.631-17C>A	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1533796	NM_000702.4(ATP1A2):c.496-11G>T	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1529995	NM_000702.4(ATP1A2):c.699C>T (p.Asn233=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 1471341	NM_000702.4(ATP1A2):c.604C>T (p.Arg202Trp)	ATP1A2, LOC126805890 (R202W)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GLikely pathogenic
Select item 1460480	NM_000702.4(ATP1A2):c.685T>G (p.Phe229Val)	ATP1A2, LOC126805890 (F229V)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1459217	NM_000702.4(ATP1A2):c.720_721del (p.Ile240fs)	ATP1A2, LOC126805890 (I240fs)	Deletion (frameshift variant)	Familial hemiplegic migraine	GPathogenic
Select item 1448026	NM_000702.4(ATP1A2):c.673C>T (p.Arg225Cys)	ATP1A2, LOC126805890 (R225C)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1414823	NM_000702.4(ATP1A2):c.496-5C>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	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 1319391	NM_000702.4(ATP1A2):c.2998G>A (p.Glu1000Lys)	ATP1A2 (E1000K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297690	NM_000702.4(ATP1A2):c.713G>A (p.Arg238His)	ATP1A2, LOC126805890 (R238H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256582	NM_000702.4(ATP1A2):c.588C>T (p.Arg196=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine +7 more	GBenign/Likely benign
Select item 1256581	NM_000702.4(ATP1A2):c.3020G>C (p.Arg1007Pro)	ATP1A2 (R1007P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1151233	NM_000702.4(ATP1A2):c.672C>A (p.Thr224=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 1127269	NM_000702.4(ATP1A2):c.537C>T (p.Asn179=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 1119178	NM_000702.4(ATP1A2):c.631-9C>T	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine	GLikely benign
Select item 1119159	NM_000702.4(ATP1A2):c.591C>T (p.Val197=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 1101833	NM_000702.4(ATP1A2):c.567G>A (p.Val189=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 1055216	NM_000702.4(ATP1A2):c.589G>A (p.Val197Ile)	ATP1A2, LOC126805890 (V197I)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GConflicting classifications of pathogenicity
Select item 1017736	NM_000702.4(ATP1A2):c.742G>T (p.Val248Phe)	LOC126805890, ATP1A2 (V248F)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 1012045	NM_000702.4(ATP1A2):c.728T>A (p.Phe243Tyr)	ATP1A2, LOC126805890 (F243Y)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 996765	NM_000702.4(ATP1A2):c.2776G>T (p.Val926Leu)	ATP1A2 (V926L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 994991	NM_000702.4(ATP1A2):c.643T>C (p.Ser215Pro)	ATP1A2, LOC126805890 (S215P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994990	NM_000702.4(ATP1A2):c.2262C>T (p.Ser754=)	ATP1A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 994988	NM_000702.4(ATP1A2):c.2126T>C (p.Val709Ala)	ATP1A2 (V709A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982652	NM_000702.4(ATP1A2):c.719T>A (p.Ile240Asn)	ATP1A2, LOC126805890 (I240N)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 1	GUncertain significance
Select item 978554	NM_000702.4(ATP1A2):c.963C>G (p.Phe321Leu)	ATP1A2 (F321L)	Single nucleotide variant (missense variant)	Dysphasia +2 more	GUncertain significance
Select item 972074	NM_000702.4(ATP1A2):c.496-1G>A	ATP1A2, LOC126805890	Single nucleotide variant (splice acceptor variant)	Familial hemiplegic migraine	GLikely pathogenic
Select item 949460	NM_000702.4(ATP1A2):c.633G>A (p.Val211=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GUncertain significance
Select item 938470	NM_000702.4(ATP1A2):c.621T>A (p.His207Gln)	ATP1A2, LOC126805890 (H207Q)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 931798	NM_000702.4(ATP1A2):c.2138G>T (p.Gly713Val)	ATP1A2 (G713V)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 931282	NM_000702.4(ATP1A2):c.1531A>T (p.Ile511Phe)	ATP1A2 (I511F)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 872510	NM_000702.4(ATP1A2):c.2151C>A (p.Asn717Lys)	ATP1A2 (N717K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 847409	NM_000702.4(ATP1A2):c.748+3G>A	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 845084	NM_000702.4(ATP1A2):c.694G>C (p.Glu232Gln)	ATP1A2, LOC126805890 (E232Q)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 801567	NM_000702.4(ATP1A2):c.671C>T (p.Thr224Ile)	ATP1A2, LOC126805890 (T224I)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 735552	NM_000702.4(ATP1A2):c.741T>C (p.Cys247=)	LOC126805890, ATP1A2	Single nucleotide variant (synonymous variant)	Familial hemiplegic migraine	GLikely benign
Select item 679999	NM_000702.4(ATP1A2):c.631-231T>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678076	NM_000702.4(ATP1A2):c.630+238A>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678075	NM_000702.4(ATP1A2):c.630+123T>C	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670755	NM_000702.4(ATP1A2):c.748+84T>A	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +4 more	GBenign
Select item 668018	NM_000702.4(ATP1A2):c.631-282A>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 662679	NM_000702.4(ATP1A2):c.586C>T (p.Arg196Cys)	ATP1A2, LOC126805890 (R196C)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 655258	NM_000702.4(ATP1A2):c.674G>A (p.Arg225His)	ATP1A2, LOC126805890 (R225H)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 646924	NM_000702.4(ATP1A2):c.664C>T (p.Pro222Ser)	ATP1A2, LOC126805890 (P222S)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 644575	NM_000702.4(ATP1A2):c.607A>C (p.Ile203Leu)	ATP1A2, LOC126805890 (I203L)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 625279	NM_000702.4(ATP1A2):c.118-12T>A	ATP1A2	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 2	GUncertain significance
Select item 588262	NM_000702.4(ATP1A2):c.712C>T (p.Arg238Cys)	ATP1A2, LOC126805890 (R238C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 546612	NM_000702.4(ATP1A2):c.1817C>A (p.Ala606Glu)	ATP1A2 (A606E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 516526	NM_000702.4(ATP1A2):c.660G>A (p.Ser220=)	ATP1A2, LOC126805890	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 509169	NM_000702.4(ATP1A2):c.631-16A>G	ATP1A2, LOC126805890	Single nucleotide variant (intron variant)	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +5 more	GBenign/Likely benign
Select item 460307	NM_000702.4(ATP1A2):c.512G>A (p.Arg171Gln)	ATP1A2, LOC126805890 (R171Q)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance

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