| - GRCh37:
- Chr19:13323296
- GRCh38:
- Chr19:13212482
| CACNA1A | V2031L, V2032L, V2034L, V2037L | Migraine, familial hemiplegic, 1 | Uncertain significance
(Jun 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13470582
- GRCh38:
- Chr19:13359768
| CACNA1A | C272* | Migraine, familial hemiplegic, 1 | Likely pathogenic
(Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13418596-13419188
| CACNA1A | | Developmental and epileptic encephalopathy, 42, Migraine, familial hemiplegic, 1, Episodic ataxia type 2,
Spinocerebellar ataxia type 6 | not provided | no assertion provided |
| - GRCh37:
- Chr19:13325051
- GRCh38:
- Chr19:13214237
| CACNA1A | E1979A, E1980A, E1982A, E1985A | Developmental and epileptic encephalopathy, 42, Migraine, familial hemiplegic, 1, Episodic ataxia type 2,
Spinocerebellar ataxia type 6 | not provided | no assertion provided |
| - GRCh37:
- ChrX:48932557
- GRCh38:
- ChrX:49074898
| WDR45 | G330R, G331R | Migraine, familial hemiplegic, 1 | Uncertain significance
(Jun 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13443701
- GRCh38:
- Chr19:13332887
| CACNA1A | Q413* | Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1, Episodic ataxia type 2
| not provided | no assertion provided |
| - GRCh37:
- Chr19:13341014
- GRCh38:
- Chr19:13230200
| CACNA1A | L1804F, L1805F, L1807F, L1810F | Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1, Episodic ataxia type 2
| not provided | no assertion provided |
| - GRCh37:
- Chr19:13368220
- GRCh38:
- Chr19:13257406
| CACNA1A | T1512A, T1513A, T1516A | Migraine, familial hemiplegic, 1 | Likely pathogenic
(Dec 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13409362
- GRCh38:
- Chr19:13298548
| CACNA1A | R1029G, R1030G, R1033G | not provided, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42 | Uncertain significance
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13322949
- GRCh38:
- Chr19:13212135
| CACNA1A | A2091T, A2092T, A2094T, A2097T | Developmental and epileptic encephalopathy, 42, Migraine, familial hemiplegic, 1, Episodic ataxia type 2,
Spinocerebellar ataxia type 6 | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13365962
- GRCh38:
- Chr19:13255148
| CACNA1A | E1568K, E1569K, E1572K | Migraine, familial hemiplegic, 1 | Uncertain significance
(Jul 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13373649
- GRCh38:
- Chr19:13262835
| CACNA1A | | Migraine, familial hemiplegic, 1 | Pathogenic
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13368239
- GRCh38:
- Chr19:13257425
| CACNA1A | F1505L, F1506L, F1509L | Migraine, familial hemiplegic, 1, Spinocerebellar ataxia type 6, Episodic ataxia type 2
| not provided | no assertion provided |
| - GRCh37:
- Chr19:13346479-13346480
- GRCh38:
- Chr19:13235665-13235666
| CACNA1A | Q1673fs, Q1674fs, Q1676fs, Q1679fs | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1 | Pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13346036
- GRCh38:
- Chr19:13235222
| CACNA1A | I1707T, I1708T, I1710T, I1713T | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1 | Likely pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13476263
- GRCh38:
- Chr19:13365449
| CACNA1A | S218P | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1 | Likely pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13418997
- GRCh38:
- Chr19:13308183
| CACNA1A | L617S, L618S | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1 | Likely pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13414651-13414668
- GRCh38:
- Chr19:13303837-13303854
| CACNA1A | | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1 | Likely pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13414586
- GRCh38:
- Chr19:13303772
| CACNA1A | G700E, G701E | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1 | Likely pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13414395
- GRCh38:
- Chr19:13303581
| CACNA1A | V713M, V714M | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 52,
Episodic ataxia type 2, Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1
| Pathogenic/Likely pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13386705
- GRCh38:
- Chr19:13275891
| LOC126862865, CACNA1A | D1316E, D1317E, D1320E | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1 | Likely pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13341007
- GRCh38:
- Chr19:13230193
| CACNA1A | V1806A, V1807A, V1809A, V1812A | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1 | Likely pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13373606
- GRCh38:
- Chr19:13262792
| CACNA1A | L1344P, L1345P, L1348P | CACNA1A-associated disorder, Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2,
Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1 | Pathogenic/Likely pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13368235
- GRCh38:
- Chr19:13257421
| CACNA1A | A1507T, A1508T, A1511T | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1 | Pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13470419
- GRCh38:
- Chr19:13359605
| CACNA1A | | Migraine, familial hemiplegic, 1 | Likely pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13409455
- GRCh38:
- Chr19:13298641
| CACNA1A | G1002R, G998R, G999R | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Migraine, familial hemiplegic, 1,
Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Spinocerebellar ataxia type 6
| Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13470550
- GRCh38:
- Chr19:13359736
| CACNA1A | N283S | Inborn genetic diseases, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42,
not provided, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42,
Migraine, familial hemiplegic, 1, Spinocerebellar ataxia type 6 | Conflicting interpretations of pathogenicity
(Jan 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13410136
- GRCh38:
- Chr19:13299322
| CACNA1A | K771*, K772*, K775* | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Developmental and epileptic encephalopathy, 52, Migraine, familial hemiplegic, 1, Spinocerebellar ataxia type 6
| Pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13341002
- GRCh38:
- Chr19:13230188
| CACNA1A | V1811I, V1808I, V1809I, V1814I | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 52
| Pathogenic/Likely pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13470557
- GRCh38:
- Chr19:13359743
| CACNA1A | C281fs | Spinocerebellar ataxia type 6, Episodic ataxia type 2, Migraine, familial hemiplegic, 1,
Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
| Pathogenic
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13409454
- GRCh38:
- Chr19:13298640
| CACNA1A | G998E, G999E, G1002E | Spinocerebellar ataxia type 6, Episodic ataxia type 2, Migraine, familial hemiplegic, 1,
Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
| Uncertain significance
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13616909
- GRCh38:
- Chr19:13506095
| CACNA1A | A44T | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6
| Uncertain significance
(Nov 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13342589
- GRCh38:
- Chr19:13231775
| CACNA1A | R1779*, R1780*, R1782*, R1785* | Episodic ataxia type 2, Migraine, familial hemiplegic, 1, Spinocerebellar ataxia type 6,
Developmental and epileptic encephalopathy, 52, not provided | Pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13409959
- GRCh38:
- Chr19:13299145
| CACNA1A | N830D, N831D, N834D | Migraine, familial hemiplegic, 1, Episodic ataxia type 2 | Uncertain significance
(Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13318673-13318675
- GRCh38:
- Chr19:13207859-13207861
| CACNA1A, LOC108663985 | Q2325del, Q2331del | not provided, Spinocerebellar ataxia type 6, Episodic ataxia type 2,
Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42 | Benign
(Jul 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13318672-13318673
- GRCh38:
- Chr19:13207858-13207859
| CACNA1A, LOC108663985 | | Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Spinocerebellar ataxia type 6, not provided | Benign/Likely benign
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13318320
- GRCh38:
- Chr19:13207506
| CACNA1A | A2443V, A2449V | Episodic ataxia type 2, Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42,
Spinocerebellar ataxia type 6, not specified | Benign/Likely benign
(Sep 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13318673-13318690
- GRCh38:
- Chr19:13207859-13207876
| CACNA1A, LOC108663985 | | Episodic ataxia type 2, Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42,
Spinocerebellar ataxia type 6, not provided | Benign
(Jul 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13318386
- GRCh38:
- Chr19:13207572
| CACNA1A | P2421L, P2427L | not provided, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42 | Likely benign
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13443770
- GRCh38:
- Chr19:13332956
| CACNA1A | | Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42, not provided,
Episodic ataxia type 2, Spinocerebellar ataxia type 6 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13414796
- GRCh38:
- Chr19:13303982
| CACNA1A | | Migraine, familial hemiplegic, 1, not provided, Episodic ataxia type 2,
Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy, 42 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13355900
- GRCh38:
- Chr19:13245086
| CACNA1A | | not provided, Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6,
Episodic ataxia type 2, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13338181-13338183
- GRCh38:
- Chr19:13227367-13227369
| CACNA1A | | Developmental and epileptic encephalopathy, 42, not provided, Spinocerebellar ataxia type 6,
Episodic ataxia type 2, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13323759
- GRCh38:
- Chr19:13212945
| CACNA1A | | Developmental and epileptic encephalopathy, 42, not provided, Spinocerebellar ataxia type 6,
Episodic ataxia type 2, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13322823
- GRCh38:
- Chr19:13212009
| CACNA1A | | not provided, Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6,
Episodic ataxia type 2, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13320002
- GRCh38:
- Chr19:13209188
| CACNA1A | | not provided, Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6,
Episodic ataxia type 2, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13319989
- GRCh38:
- Chr19:13209175
| CACNA1A | | Migraine, familial hemiplegic, 1, not provided, Developmental and epileptic encephalopathy, 42,
Episodic ataxia type 2, Spinocerebellar ataxia type 6 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13323124
- GRCh38:
- Chr19:13212310
| CACNA1A | | not provided, Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6,
Episodic ataxia type 2, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13319706
- GRCh38:
- Chr19:13208892
| CACNA1A | H2218P, H2215P, H2216P, H2221P | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6,
Episodic ataxia type 2, Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42,
not provided | Uncertain significance
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13397467
- GRCh38:
- Chr19:13286653
| CACNA1A | G1135S, G1136S, G1139S | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42,
Spinocerebellar ataxia type 6, Episodic ataxia type 2, Migraine, familial hemiplegic, 1
| Conflicting interpretations of pathogenicity
(Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13318207
- GRCh38:
- Chr19:13207393
| CACNA1A | G2481R, G2487R | Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1, Episodic ataxia type 2,
Developmental and epileptic encephalopathy, 42, not provided | Uncertain significance
(Sep 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13373573
- GRCh38:
- Chr19:13262759
| CACNA1A | T1355I, T1356I, T1359I | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Migraine, familial hemiplegic, 1,
Episodic ataxia type 2, Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy, 52,
not provided | Conflicting interpretations of pathogenicity
(Mar 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13419004
- GRCh38:
- Chr19:13308190
| CACNA1A | S615R, S616R | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Migraine, familial hemiplegic, 1,
Migraine, familial hemiplegic, 1, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Developmental and epileptic encephalopathy, 52 | Conflicting interpretations of pathogenicity
(Mar 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13373610
- GRCh38:
- Chr19:13262796
| CACNA1A | S1343P, S1344P, S1347P | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Migraine, familial hemiplegic, 1
| Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13373573
- GRCh38:
- Chr19:13262759
| CACNA1A | T1355N, T1356N, T1359N | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 52 | Pathogenic/Likely pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13373609
- GRCh38:
- Chr19:13262795
| CACNA1A | S1343Y, S1344Y, S1347Y | Episodic ataxia type 2, Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1,
Developmental and epileptic encephalopathy, 52, Developmental and epileptic encephalopathy, 42 | Conflicting interpretations of pathogenicity
(Mar 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13372411
- GRCh38:
- Chr19:13261597
| CACNA1A, LOC126862864 | C1368S, C1369S, C1372S | Migraine, familial hemiplegic, 1 | Uncertain significance
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13373585
- GRCh38:
- Chr19:13262771
| CACNA1A | R1355Q, R1351Q, R1352Q | Spinocerebellar ataxia type 6, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 52,
Migraine, familial hemiplegic, 1, not provided, Developmental and epileptic encephalopathy, 42,
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Inborn genetic diseases
| Pathogenic/Likely pathogenic
(Jul 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13345736
- GRCh38:
- Chr19:13234922
| CACNA1A | R1756W, R1750W, R1751W, R1753W | Developmental and epileptic encephalopathy, 42, Migraine, familial hemiplegic, 1, Episodic ataxia type 2,
Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
not provided | Conflicting interpretations of pathogenicity
(Jul 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13427947
- GRCh38:
- Chr19:13317133
| CACNA1A | E512K, E513K | Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42,
Episodic ataxia type 2, not provided, Developmental and epileptic encephalopathy, 42,
Episodic ataxia type 2 | Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13445224
- GRCh38:
- Chr19:13334410
| CACNA1A | L389P | Migraine, familial hemiplegic, 1 | Uncertain significance
(Jan 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13373530
- GRCh38:
- Chr19:13262716
| CACNA1A | | Migraine, familial hemiplegic, 1 | Uncertain significance
(Nov 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13319703
- GRCh38:
- Chr19:13208889
| CACNA1A | H2216P, H2217P, H2219P, H2222P | not provided, Migraine, familial hemiplegic, 1 | Uncertain significance
(Nov 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13409643
- GRCh38:
- Chr19:13298829
| CACNA1A | R936Q, R939Q, R935Q | Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
not provided | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13395943
- GRCh38:
- Chr19:13285129
| CACNA1A | E1212*, E1211*, E1215* | Migraine, familial hemiplegic, 1 | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13427920-13427923
- GRCh38:
- Chr19:13317106-13317109
| CACNA1A | | Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42, not provided
| Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13386752
- GRCh38:
- Chr19:13275938
| CACNA1A, LOC126862865 | V1305I, V1301I, V1302I | Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
not provided | Uncertain significance
(Jan 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13441097
- GRCh38:
- Chr19:13330283
| CACNA1A | E436K, E437K | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, not provided,
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Migraine, familial hemiplegic, 1,
Spinocerebellar ataxia type 6 | Uncertain significance
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13423504
- GRCh38:
- Chr19:13312690
| CACNA1A | F550fs, F551fs | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Migraine, familial hemiplegic, 1, Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy, 42
| Pathogenic/Likely pathogenic
(Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13423516
- GRCh38:
- Chr19:13312702
| CACNA1A | Y546*, Y545* | Episodic ataxia type 2, Migraine, familial hemiplegic, 1, Spinocerebellar ataxia type 6,
Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
| Pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13476223
- GRCh38:
- Chr19:13365409
| CACNA1A | L231R | Migraine, familial hemiplegic, 1, not provided | Uncertain significance
(Jan 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13446667
- GRCh38:
- Chr19:13335853
| CACNA1A, LOC126862866 | I345M | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, not provided,
Migraine, familial hemiplegic, 1, Episodic ataxia type 2 | Uncertain significance
(Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13446733
- GRCh38:
- Chr19:13335919
| CACNA1A, LOC126862866 | | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, not provided,
Episodic ataxia type 2, Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42,
Spinocerebellar ataxia type 6, not specified | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13419008
- GRCh38:
- Chr19:13308194
| CACNA1A | I613M, I614M | Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Spinocerebellar ataxia type 6, Episodic ataxia type 2 | Likely pathogenic
(Mar 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13443739
- GRCh38:
- Chr19:13332925
| CACNA1A | E400V | Migraine, familial hemiplegic, 1, Episodic ataxia type 2, Spinocerebellar ataxia type 6,
Idiopathic hemiconvulsion-hemiplegia syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr19:13364012
- GRCh38:
- Chr19:13253198
| CACNA1A | | Developmental and epileptic encephalopathy, 42, not provided, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1, Episodic ataxia type 2 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13410235
- GRCh38:
- Chr19:13299421
| CACNA1A | | Developmental and epileptic encephalopathy, 42, not provided, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1, Episodic ataxia type 2 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13335432
- GRCh38:
- Chr19:13224618
| CACNA1A | | Developmental and epileptic encephalopathy, 42, not provided, Spinocerebellar ataxia type 6,
Episodic ataxia type 2, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13356150
- GRCh38:
- Chr19:13245336
| CACNA1A | | Developmental and epileptic encephalopathy, 42, not provided, Episodic ataxia type 2,
Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13373477
- GRCh38:
- Chr19:13262663
| CACNA1A | | Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6, Episodic ataxia type 2,
Migraine, familial hemiplegic, 1, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13445144
- GRCh38:
- Chr19:13334330
| CACNA1A | | Spinocerebellar ataxia type 6, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42,
not provided, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13616693
- GRCh38:
- Chr19:13505879
| CACNA1A | | Spinocerebellar ataxia type 6, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42,
not provided, Migraine, familial hemiplegic, 1 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13346498
- GRCh38:
- Chr19:13235684
| CACNA1A | R1667P, R1672P, R1666P, R1669P | CACNA1A-related condition, Inborn genetic diseases, Migraine, familial hemiplegic, 1,
Episodic ataxia type 2, Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy, 52,
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 | Pathogenic/Likely pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13318377-13318382
- GRCh38:
- Chr19:13207563-13207568
| CACNA1A | | Attention deficit hyperactivity disorder, Abnormal substantia nigra morphology, Specific learning disability,
Bilateral basal ganglia lesions, Autistic behavior, Abnormal basal ganglia morphology,
Abnormal globus pallidus morphology, Episodic ataxia type 2, Migraine, familial hemiplegic, 1,
Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy, 42Inborn genetic diseases,
Episodic ataxia type 2, ...see more | Conflicting interpretations of pathogenicity
(Dec 28, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13395881
- GRCh38:
- Chr19:13285067
| CACNA1A | | not provided, Migraine, familial hemiplegic, 1, Episodic ataxia type 2
| Conflicting interpretations of pathogenicity
(Feb 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13409755
- GRCh38:
- Chr19:13298941
| CACNA1A | G899S, G898S, G902S | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, not provided,
Inborn genetic diseases, Migraine, familial hemiplegic, 1 | Conflicting interpretations of pathogenicity
(Jul 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13476226
- GRCh38:
- Chr19:13365412
| CACNA1A | G230V | Migraine, familial hemiplegic, 1 | Uncertain significance
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:13470563
- GRCh38:
- Chr19:13359749
| CACNA1A | R279C | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Migraine, familial hemiplegic, 1,
Episodic ataxia type 2, Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy, 52,
Developmental and epileptic encephalopathy, 42, not provided | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13365994
- GRCh38:
- Chr19:13255180
| CACNA1A | R1558H, R1561H, R1557H | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Migraine, familial hemiplegic, 1,
Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Inborn genetic diseases | Uncertain significance
(Jan 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13443756
- GRCh38:
- Chr19:13332942
| CACNA1A | | Migraine, familial hemiplegic, 1, Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6,
Episodic ataxia type 2, not specified, Developmental and epileptic encephalopathy, 42,
Episodic ataxia type 2 | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13397785
- GRCh38:
- Chr19:13286971
| CACNA1A | | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6,
Migraine, familial hemiplegic, 1, not provided, Episodic ataxia type 2,
Developmental and epileptic encephalopathy, 42 | Conflicting interpretations of pathogenicity
(Aug 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13409518-13409543
- GRCh38:
- Chr19:13298704-13298729
| CACNA1A | P969fs, P970fs, P973fs | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, not provided
| Pathogenic
(May 7, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13409523
- GRCh38:
- Chr19:13298709
| CACNA1A | R976L, R975L, R979L | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1,
not provided | Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13414442
- GRCh38:
- Chr19:13303628
| CACNA1A | | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1,
not provided | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13414399
- GRCh38:
- Chr19:13303585
| CACNA1A | I712M, I711M | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2,
Developmental and epileptic encephalopathy, 52, Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1,
not provided | Conflicting interpretations of pathogenicity
(Mar 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13356049
- GRCh38:
- Chr19:13245235
| CACNA1A | D1634N, D1633N, D1637N | CACNA1A-related disorders, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 52,
Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1, Episodic ataxia type 2,
Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity
(Feb 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13320221
- GRCh38:
- Chr19:13209407
| CACNA1A | P2145L, P2150L, P2144L, P2147L | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, not specified,
Episodic ataxia type 2, Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1,
Developmental and epileptic encephalopathy, 42, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:13409557
- GRCh38:
- Chr19:13298743
| CACNA1A | P965S, P968S, P964S | not specified, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42,
Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1 | Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13414597
- GRCh38:
- Chr19:13303783
| CACNA1A | | not specified, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42,
Spinocerebellar ataxia type 6, Migraine, familial hemiplegic, 1 | Uncertain significance
(Mar 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:13418599
- GRCh38:
- Chr19:13307785
| CACNA1A | | Inborn genetic diseases, not provided, Episodic ataxia type 2,
Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2, Migraine, familial hemiplegic, 1,
Developmental and epileptic encephalopathy, 42, Spinocerebellar ataxia type 6, not specified
| Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |