| - GRCh37:
- Chr10:90699417
- GRCh38:
- Chr10:88939660
| ACTA2, ACTA2-AS1 | C176R, C182R, C219R | Aortic aneurysm, familial thoracic 6 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:90707055
- GRCh38:
- Chr10:88947298
| ACTA2 | I73T | Aortic aneurysm, familial thoracic 6 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:90699424
- GRCh38:
- Chr10:88939667
| ACTA2, ACTA2-AS1 | E173D, E179D, E216D | Aortic aneurysm, familial thoracic 6 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:90703665
- GRCh38:
- Chr10:88943908
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely pathogenic (Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697798-90767614
| ACTA2, FAS, FAS-AS1 | | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703618
- GRCh38:
- Chr10:88943861
| ACTA2 | E102A, E59A | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697920
- GRCh38:
- Chr10:88938163
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703675
- GRCh38:
- Chr10:88943918
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697830
- GRCh38:
- Chr10:88938073
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90707141
- GRCh38:
- Chr10:88947384
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701528
- GRCh38:
- Chr10:88941771
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699394
- GRCh38:
- Chr10:88939637
| ACTA2, ACTA2-AS1 | E183D, E226D, E189D | Aortic aneurysm, familial thoracic 6 | Uncertain significance (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699251
- GRCh38:
- Chr10:88939494
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90707152
- GRCh38:
- Chr10:88947395
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90700976
- GRCh38:
- Chr10:88941219
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699324
- GRCh38:
- Chr10:88939567
| ACTA2, ACTA2-AS1 | I250V, I207V, I213V | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703584
- GRCh38:
- Chr10:88943827
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699467
- GRCh38:
- Chr10:88939710
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90708685
- GRCh38:
- Chr10:88948928
| ACTA2 | M1I | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697846
- GRCh38:
- Chr10:88938089
| ACTA2, ACTA2-AS1 | A321G, A257G, A278G, A284G | not provided, Aortic aneurysm, familial thoracic 6 | Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90701092
- GRCh38:
- Chr10:88941335
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jan 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701019
- GRCh38:
- Chr10:88941262
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90695093-90695094
- GRCh38:
- Chr10:88935336-88935337
| ACTA2, ACTA2-AS1 | V341fs | Aortic aneurysm, familial thoracic 6 | Uncertain significance (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703586
- GRCh38:
- Chr10:88943829
| ACTA2 | N113D, N70D | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90695042
- GRCh38:
- Chr10:88935285
| ACTA2, ACTA2-AS1 | W294R, W358R, W315R, W321R | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701137
- GRCh38:
- Chr10:88941380
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701637
- GRCh38:
- Chr10:88941880
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697879
- GRCh38:
- Chr10:88938122
| ACTA2, ACTA2-AS1 | G267D, G310D, G246D, G273D | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699290
- GRCh38:
- Chr10:88939533
| ACTA2, ACTA2-AS1 | E224G, E218G, E261G | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699255
- GRCh38:
- Chr10:88939498
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703643
- GRCh38:
- Chr10:88943886
| ACTA2 | N51D, N94D | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90695139
- GRCh38:
- Chr10:88935382
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701527
- GRCh38:
- Chr10:88941770
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697857
- GRCh38:
- Chr10:88938100
| ACTA2, ACTA2-AS1 | | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6 | Likely benign (Nov 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90699315
- GRCh38:
- Chr10:88939558
| ACTA2, ACTA2-AS1 | G210R, G216R, G253R | Aortic aneurysm, familial thoracic 6 | Uncertain significance (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90695134
- GRCh38:
- Chr10:88935377
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699339
- GRCh38:
- Chr10:88939582
| ACTA2, ACTA2-AS1 | P208A, P202A, P245A | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703553
- GRCh38:
- Chr10:88943796
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Pathogenic (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697911
- GRCh38:
- Chr10:88938154
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90707131-90707133
- GRCh38:
- Chr10:88947374-88947376
| ACTA2 | V47del | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701584
- GRCh38:
- Chr10:88941827
| ACTA2 | I138V, I101V, I95V | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699323
- GRCh38:
- Chr10:88939566
| ACTA2, ACTA2-AS1 | I207T, I213T, I250T | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701630
- GRCh38:
- Chr10:88941873
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90695047
- GRCh38:
- Chr10:88935290
| ACTA2, ACTA2-AS1 | Q313R, Q319R, Q356R, Q292R | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703639
- GRCh38:
- Chr10:88943882
| ACTA2 | E95G, E52G | Aortic aneurysm, familial thoracic 6 | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701039
- GRCh38:
- Chr10:88941282
| ACTA2 | T145I, T151I, T188I | Aortic aneurysm, familial thoracic 6 | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90707111
- GRCh38:
- Chr10:88947354
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697948
- GRCh38:
- Chr10:88938191
| ACTA2, ACTA2-AS1 | C223Y, C287Y, C244Y, C250Y | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699325
- GRCh38:
- Chr10:88939568
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90695120
- GRCh38:
- Chr10:88935363
| ACTA2, ACTA2-AS1 | I268V, I295V, I332V, I289V | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701080
- GRCh38:
- Chr10:88941323
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699421
- GRCh38:
- Chr10:88939664
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90707011
- GRCh38:
- Chr10:88947254
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697851
- GRCh38:
- Chr10:88938094
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90701134
- GRCh38:
- Chr10:88941377
| ACTA2 | | Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection | Likely benign (Dec 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90701617
- GRCh38:
- Chr10:88941860
| ACTA2 | E127Q, E84Q, E90Q | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701109
- GRCh38:
- Chr10:88941352
| ACTA2 | V122I, V128I, V165I | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701590
- GRCh38:
- Chr10:88941833
| ACTA2 | V136M, V93M, V99M | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703598
- GRCh38:
- Chr10:88943841
| ACTA2 | E109fs | Aortic aneurysm, familial thoracic 6 | Likely pathogenic (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697908
- GRCh38:
- Chr10:88938151
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703566
- GRCh38:
- Chr10:88943809
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Apr 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703638
- GRCh38:
- Chr10:88943881
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Mar 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90707051
- GRCh38:
- Chr10:88947294
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Feb 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90708547
- GRCh38:
- Chr10:88948790
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90708551
- GRCh38:
- Chr10:88948794
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699376
- GRCh38:
- Chr10:88939619
| ACTA2, ACTA2-AS1 | | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6 | Likely benign (Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90707075
- GRCh38:
- Chr10:88947318
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697875
- GRCh38:
- Chr10:88938118
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Feb 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699288
- GRCh38:
- Chr10:88939531
| ACTA2, ACTA2-AS1 | T262A, T225A, T219A | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6 | Uncertain significance (Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90703568
- GRCh38:
- Chr10:88943811
| ACTA2 | E119Q, E76Q | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90708589-90708590
- GRCh38:
- Chr10:88948832-88948833
| ACTA2 | S35fs | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699396
- GRCh38:
- Chr10:88939639
| ACTA2, ACTA2-AS1 | E226K, E189K, E183K | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Sep 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90695030
- GRCh38:
- Chr10:88935273
| ACTA2, ACTA2-AS1 | Q362*, Q325*, Q319*, Q298* | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Dec 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701091
- GRCh38:
- Chr10:88941334
| ACTA2 | Y171N, Y128N, Y134N | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697994
- GRCh38:
- Chr10:88938237
| ACTA2, ACTA2-AS1 | E272Q, E208Q, E229Q, E235Q | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703661
- GRCh38:
- Chr10:88943904
| ACTA2 | W88R, W45R | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699259
- GRCh38:
- Chr10:88939502
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699345
- GRCh38:
- Chr10:88939588
| ACTA2, ACTA2-AS1 | E243K, E206K, E200K | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90694970-91007415
| ACTA2, CH25H, FAS, FAS-AS1, LIPA | | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Feb 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90707137
- GRCh38:
- Chr10:88947380
| ACTA2 | M46V | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699440
- GRCh38:
- Chr10:88939683
| ACTA2, ACTA2-AS1 | V211D, V174D, V168D | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697940
- GRCh38:
- Chr10:88938183
| ACTA2, ACTA2-AS1 | D290N, D253N, D226N, D247N | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703547-90703550
- GRCh38:
- Chr10:88943790-88943793
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90697838
- GRCh38:
- Chr10:88938081
| ACTA2, ACTA2-AS1 | P324S, P260S, P287S, P281S | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703573
- GRCh38:
- Chr10:88943816
| ACTA2 | N117S, N74S | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6 | Conflicting interpretations of pathogenicity (Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90703580-90703583
- GRCh38:
- Chr10:88943823-88943826
| ACTA2 | P114fs | Aortic aneurysm, familial thoracic 6 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:90703585
- GRCh38:
- Chr10:88943828
| ACTA2 | N113S, N70S | Aortic aneurysm, familial thoracic 6 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:90695127
- GRCh38:
- Chr10:88935370
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity (Jun 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90708624
- GRCh38:
- Chr10:88948867
| ACTA2 | G22S | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6 | Uncertain significance (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90701107
- GRCh38:
- Chr10:88941350
| ACTA2 | | not specified, Aortic aneurysm, familial thoracic 6 | Likely benign (Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90701597
- GRCh38:
- Chr10:88941840
| ACTA2 | | Aortic aneurysm, familial thoracic 6, not provided | Conflicting interpretations of pathogenicity (Mar 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90695131
- GRCh38:
- Chr10:88935374
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Aug 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699343
- GRCh38:
- Chr10:88939586
| ACTA2, ACTA2-AS1 | | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6 | Likely benign (Dec 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90707069
- GRCh38:
- Chr10:88947312
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Jun 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90703575
- GRCh38:
- Chr10:88943818
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (May 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699424
- GRCh38:
- Chr10:88939667
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5, not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
| Likely benign (Feb 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90708600
- GRCh38:
- Chr10:88948843
| ACTA2 | | Aortic aneurysm, familial thoracic 6 | Likely benign (Oct 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90708573
- GRCh38:
- Chr10:88948816
| ACTA2 | R39S | Aortic aneurysm, familial thoracic 6 | Likely pathogenic (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699423
- GRCh38:
- Chr10:88939666
| ACTA2, ACTA2-AS1 | K217E, K174E, K180E | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701592
- GRCh38:
- Chr10:88941835
| ACTA2 | Y135C, Y98C, Y92C | Aortic aneurysm, familial thoracic 6 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |