List of variants reported as pathogenic for familial hemiplegic migraine

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 134

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)	rs121918619	0.00006
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met)	rs121918618	0.00001
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter)	rs1165052640	0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)	rs121918614	0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr)	rs121918617	0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	rs121918632	0.00001
NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del
NM_000702.4(ATP1A2):c.1033A>G (p.Thr345Ala)	rs121918613
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met)	rs1553244881
NM_000702.4(ATP1A2):c.1097G>T (p.Gly366Val)	rs1057518514
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg)	rs121918620
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met)	rs121918620
NM_000702.4(ATP1A2):c.1130G>T (p.Gly377Val)
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn)	rs28934002
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile)	rs28934002
NM_000702.4(ATP1A2):c.1234C>T (p.Arg412Ter)
NM_000702.4(ATP1A2):c.1405A>T (p.Arg469Ter)
NM_000702.4(ATP1A2):c.1453A>T (p.Lys485Ter)	rs2101989829
NM_000702.4(ATP1A2):c.1570G>T (p.Glu524Ter)
NM_000702.4(ATP1A2):c.1639del (p.Glu547fs)	rs1651730901
NM_000702.4(ATP1A2):c.1642C>T (p.Arg548Cys)	rs1651731153
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)	rs121918616
NM_000702.4(ATP1A2):c.1743C>A (p.Cys581Ter)	rs1570990484
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp)	rs886039530
NM_000702.4(ATP1A2):c.1778G>T (p.Arg593Leu)	rs1553245178
NM_000702.4(ATP1A2):c.1810C>T (p.Arg604Ter)	rs1469902667
NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr)	rs1414742926
NM_000702.4(ATP1A2):c.1843G>A (p.Gly615Arg)	rs770053423
NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met)	rs1553245659
NM_000702.4(ATP1A2):c.188del (p.Asn63fs)	rs1651475047
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln)	rs28933401
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)	rs1558008455
NM_000702.4(ATP1A2):c.2126_2127del (p.Val709fs)
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg)	rs1553245771
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr)	rs28933400
NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro)	rs28933398
NM_000702.4(ATP1A2):c.2357C>T (p.Pro786Leu)	rs1209724722
NM_000702.4(ATP1A2):c.2471dup (p.Ala824_Glu825insTer)	rs1651944837
NM_000702.4(ATP1A2):c.2500C>T (p.Arg834Ter)	rs755310507
NM_000702.4(ATP1A2):c.2501G>A (p.Arg834Gln)	rs2101995864
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg)	rs1553245857
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu)	rs149144720
NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg)	rs28933399
NM_000702.4(ATP1A2):c.2708G>A (p.Trp903Ter)
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)	rs2101996488
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu)	rs121918615
NM_000702.4(ATP1A2):c.2977CTC[1] (p.Leu994del)
NM_000702.4(ATP1A2):c.2983dup (p.Ile995fs)
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln)	rs757310141
NM_000702.4(ATP1A2):c.3019C>T (p.Arg1007Trp)
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter)	rs1570998206
NM_000702.4(ATP1A2):c.524del (p.Lys175fs)
NM_000702.4(ATP1A2):c.571G>A (p.Val191Met)	rs869025341
NM_000702.4(ATP1A2):c.605G>A (p.Arg202Gln)
NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)
NM_000702.4(ATP1A2):c.720_721del (p.Ile240fs)	rs2101986777
NM_000702.4(ATP1A2):c.736_739del (p.Asn246fs)	rs1651548761
NM_000702.4(ATP1A2):c.855dup (p.Ile286fs)	rs2101988410
NM_000702.4(ATP1A2):c.869_872del (p.Ile290fs)
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr)	rs181618883
NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg)	rs121918612
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser)	rs1570987954
NM_000702.4(ATP1A2):c.988G>A (p.Val330Met)	rs1236883845
NM_000702.4(ATP1A2):c.991C>G (p.Pro331Ala)
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)	rs1427473572
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)	rs2057947681
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)	rs2144979269
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala)	rs121908213
NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu)	rs121908218
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)	rs2144958410
NM_001127222.2(CACNA1A):c.3990-2A>C
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)	rs121908230
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)	rs1064794808
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)	rs2056767062
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys)	rs121908219
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu)	rs121908237
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)	rs886041279
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	rs886037946
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)	rs121908220
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)	rs2144649756
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)	rs121909326
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)	rs2144629622
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)	rs121908214
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)	rs121908211
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)	rs121908225
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)	rs2145245595
NM_001165963.4(SCN1A):c.1028+2T>C	rs1698170849
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)	rs746413385
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	rs121917927
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)	rs1553546668
NM_001165963.4(SCN1A):c.141del (p.Asn47fs)	rs796053076
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	rs886039430
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)	rs398123585
NM_001165963.4(SCN1A):c.1843G>T (p.Gly615Ter)	rs1271824691
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
NM_001165963.4(SCN1A):c.2589+3A>T	rs794726775
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)	rs794726718
NM_001165963.4(SCN1A):c.2854T>A (p.Trp952Arg)
NM_001165963.4(SCN1A):c.2946+2T>C
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	rs121917918
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	rs794726710
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	rs727504136
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	rs121918631
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)	rs121918628
NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His)	rs121918633
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	rs139300715
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)	rs794726825
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)	rs794726752
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)	rs121917975
NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile)	rs1689685377
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	rs121917995
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)	rs794726759
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	rs121917976
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His)	rs1689242255
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	rs121917980
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	rs794726739
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter)	rs77216276
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.659T>A (p.Val220Asp)
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984
NM_001165963.4(SCN1A):c.828A>C (p.Lys276Asn)
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)	rs1698593264
Single allele

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