| - GRCh37:
- Chr16:78466649
- GRCh38:
- Chr16:78432752
| WWOX | M239I, M352I | Malignant tumor of esophagus | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:30729926
- GRCh38:
- Chr3:30688434
| TGFBR2 | C483fs, C508fs | Malignant tumor of esophagus | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:30713243
- GRCh38:
- Chr3:30671751
| TGFBR2 | R190G, R215G, R155G, R199G, R191G, R226G, R251G, R95G, R70G | Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus, Loeys-Dietz syndrome 2,
not provided | Uncertain significance
(Nov 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713472
- GRCh38:
- Chr3:30671980
| TGFBR2 | N266S, N291S, N171S, N267S, N302S, N146S, N231S, N275S, N327S | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
Malignant tumor of esophagus | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78466519
- GRCh38:
- Chr16:78432622
| WWOX | R196H, R309H | Malignant tumor of esophagus, Developmental and epileptic encephalopathy, 28, Autosomal recessive spinocerebellar ataxia 12,
Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12, not provided
| Uncertain significance
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78134034
- GRCh38:
- Chr16:78100137
| WWOX | | Malignant tumor of esophagus, Developmental and epileptic encephalopathy, 28, Autosomal recessive spinocerebellar ataxia 12,
not provided | Likely benign
(Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38103851
- GRCh38:
- Chr3:38062360
| DLEC1 | P289T | Malignant tumor of esophagus | Uncertain significance
(Feb 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:30713809
- GRCh38:
- Chr3:30672317
| TGFBR2 | R378S, R403S, R258S, R283S, R343S, R379S, R414S, R387S, R439S | Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus, Loeys-Dietz syndrome 2
| Pathogenic/Likely pathogenic
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30648039
- GRCh38:
- Chr3:30606547
| TGFBR2 | | Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578273
- GRCh38:
- Chr17:7674955
| TP53 | Q153H, Q192H, Q33H, Q60H | Malignant tumor of esophagus | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr17:7578210-7578221
- GRCh38:
- Chr17:7674892-7674903
| TP53 | | Malignant tumor of esophagus | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:30715697
- GRCh38:
- Chr3:30674205
| TGFBR2 | L452P, L477P, L417P, L461P, L488P, L332P, L357P, L453P, L513P | Malignant tumor of esophagus, Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity
(Aug 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30691838
- GRCh38:
- Chr3:30650346
| TGFBR2 | E139Q, E114Q, E123Q, E79Q | Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus, Loeys-Dietz syndrome 2,
Colorectal cancer, hereditary nonpolyposis, type 6 | Uncertain significance
(May 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713180
- GRCh38:
- Chr3:30671688
| TGFBR2 | G169R, G194R, G178R, G49R, G134R, G205R, G230R, G170R, G74R | not specified, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2,
Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6 | Uncertain significance
(Sep 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30648376
- GRCh38:
- Chr3:30606884
| TGFBR2 | M1V | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
Malignant tumor of esophagus | Uncertain significance
(Nov 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30715658
- GRCh38:
- Chr3:30674166
| TGFBR2 | V464A, V439A, V448A, V404A, V319A, V440A, V475A, V500A, V344A | Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713478
- GRCh38:
- Chr3:30671986
| TGFBR2 | S293L, S268L, S148L, S304L, S233L, S269L, S173L, S277L, S329L | Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30648451
- GRCh38:
- Chr3:30606959
| TGFBR2 | P26S | Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2, Malignant tumor of esophagus,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Mar 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78133734
- GRCh38:
- Chr16:78099837
| WWOX | P20L | Developmental and epileptic encephalopathy, 28, Malignant tumor of esophagus, Autosomal recessive spinocerebellar ataxia 12,
Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12, Inborn genetic diseases,
not provided | Uncertain significance
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78458850
- GRCh38:
- Chr16:78424953
| WWOX | Q117P, Q230P | not provided, WWOX-related condition, Malignant tumor of esophagus,
Developmental and epileptic encephalopathy, 28, Autosomal recessive spinocerebellar ataxia 12, Early Infantile Epileptic Encephalopathy, Autosomal Recessive,
Malignant tumor of esophagus, Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1,
Developmental and epileptic encephalopathy, 28, Abnormality of the nervous system ...see more | Pathogenic/Likely pathogenic
(Jul 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30732948
- GRCh38:
- Chr3:30691456
| TGFBR2 | W521R, W546R, W231R, W486R, W401R, W520R, W522R, W530R, W557R, W582R, W426R | not specified, Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus
| Pathogenic/Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78142318
- GRCh38:
- Chr16:78108421
| WWOX | | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 28, Malignant tumor of esophagus
| Likely pathogenic
(Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:50832098
- GRCh38:
- Chr18:53305728
| DCC | | Gaze palsy, familial horizontal, with progressive scoliosis, 2, Colorectal cancer, Mirror movements 1,
Malignant tumor of esophagus, not provided | Benign/Likely benign
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:50589751
- GRCh38:
- Chr18:53063381
| DCC | | Malignant tumor of esophagus, Colorectal cancer, Mirror movements 1,
Gaze palsy, familial horizontal, with progressive scoliosis, 2, not provided | Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:50848521
- GRCh38:
- Chr18:53322151
| DCC | | Malignant tumor of esophagus, Colorectal cancer, Mirror movements 1,
Gaze palsy, familial horizontal, with progressive scoliosis, 2, not provided | Benign/Likely benign
(Aug 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:49867255
- GRCh38:
- Chr18:52340885
| DCC | | Malignant tumor of esophagus, Colorectal cancer, Mirror movements 1,
Gaze palsy, familial horizontal, with progressive scoliosis, 2, not provided | Benign
(Jul 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30691871-30691872
- GRCh38:
- Chr3:30650379-30650380
| TGFBR2 | P129fs, P154fs | Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
Loeys-Dietz syndrome 2 | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78458907
- GRCh38:
- Chr16:78425010
| WWOX | R249H, R136H | Malignant tumor of esophagus, Developmental and epileptic encephalopathy, 28, Autosomal recessive spinocerebellar ataxia 12,
not provided, Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7579389
- GRCh38:
- Chr17:7676071
| TP53 | Q100fs, Q61fs | Malignant tumor of esophagus | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:30713295
- GRCh38:
- Chr3:30671803
| TGFBR2 | R232Q, R207Q, R112Q, R243Q, R172Q, R216Q, R208Q, R268Q, R87Q | TGFBR2-related condition, Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus,
Loeys-Dietz syndrome 2, not specified, not provided,
Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity
(Oct 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30733069
- GRCh38:
- Chr3:30691577
| TGFBR2 | G586A, G561A, G271A, G441A, G466A, G526A, G560A, G570A, G597A, G562A, G622A | Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2 | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78312514
- GRCh38:
- Chr16:78278617
| WWOX | | Malignant tumor of esophagus, Developmental and epileptic encephalopathy, 28, Autosomal recessive spinocerebellar ataxia 12
| Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:30691911
- GRCh38:
- Chr3:30650419
| TGFBR2 | C163Y, C138Y, C103Y, C147Y | Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2 | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:78466528
- GRCh38:
- Chr16:78432631
| WWOX | S312Y, S199Y | Autosomal recessive spinocerebellar ataxia 12, Malignant tumor of esophagus, Developmental and epileptic encephalopathy, 28,
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1, not provided
| Uncertain significance
(Aug 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:79245671
- GRCh38:
- Chr16:79211774
| MAF, WWOX | R408Q, R295Q | Malignant tumor of esophagus, Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 28,
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1 | Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78466632
- GRCh38:
- Chr16:78432735
| WWOX | P347T, P234T | Malignant tumor of esophagus, Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 28,
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy, 28
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713613
- GRCh38:
- Chr3:30672121
| TGFBR2 | R338Q, R313Q, R193Q, R278Q, R322Q, R374Q, R349Q, R218Q, R314Q | Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
Familial thoracic aortic aneurysm and aortic dissection, not provided | Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32913815
- GRCh38:
- Chr13:32339678
| BRCA2 | V1775L | Hereditary cancer-predisposing syndrome | Likely benign
(Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:30713603
- GRCh38:
- Chr3:30672111
| TGFBR2 | A310T, A335T, A319T, A215T, A275T, A371T, A190T, A311T, A346T | Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78148983
- GRCh38:
- Chr16:78115086
| WWOX | M114T, M1T | not provided, Developmental and epileptic encephalopathy, 28, Malignant tumor of esophagus,
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78312527
- GRCh38:
- Chr16:78278630
| WWOX | K182E | not provided, Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12,
Malignant tumor of esophagus | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30733032
- GRCh38:
- Chr3:30691540
| TGFBR2 | G549W, G574W, G259W, G514W, G548W, G558W, G585W, G610W, G429W, G454W, G550W | not provided, Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer, hereditary nonpolyposis, type 6,
Loeys-Dietz syndrome 2, Malignant tumor of esophagus | Uncertain significance
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30729950
- GRCh38:
- Chr3:30688458
| TGFBR2 | V491M, V516M, V396M, V490M, V552M, V371M, V492M, V500M, V201M, V456M, V527M | not provided, Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus
| Uncertain significance
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30729915
- GRCh38:
- Chr3:30688423
| TGFBR2 | R479Q, R504Q, R444Q, R488Q, R189Q, R540Q, R359Q, R480Q, R515Q, R384Q, R478Q | Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus,
Loeys-Dietz syndrome 2, not provided | Uncertain significance
(Aug 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78420775
- GRCh38:
- Chr16:78386878
| WWOX | A179S, A66S | not provided, Autosomal recessive spinocerebellar ataxia 12, Malignant tumor of esophagus,
Developmental and epileptic encephalopathy, 28, Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30713588
- GRCh38:
- Chr3:30672096
| TGFBR2 | L305F, L330F, L210F, L270F, L306F, L366F, L185F, L314F, L341F | Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:78466583
- GRCh38:
- Chr16:78432686
| WWOX | N330K, N217K | not provided, Malignant tumor of esophagus, Autosomal recessive spinocerebellar ataxia 12,
Developmental and epileptic encephalopathy, 28, Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12
| Uncertain significance
(May 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78420831
- GRCh38:
- Chr16:78386934
| WWOX | F197L, F84L | Malignant tumor of esophagus, Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 28,
Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12, not provided
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78420802
- GRCh38:
- Chr16:78386905
| WWOX | R188S, R75S | Autosomal recessive spinocerebellar ataxia 12, Malignant tumor of esophagus, Developmental and epileptic encephalopathy, 28,
not provided, Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32920978
- GRCh38:
- Chr13:32346841
| BRCA2 | R2318G | Hereditary breast ovarian cancer syndrome, Malignant tumor of esophagus, Breast and/or ovarian cancer,
Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal carcinoma
| Uncertain significance
(Feb 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30686359
- GRCh38:
- Chr3:30644867
| TGFBR2 | S72N, S97N, S37N, S81N | Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30733030
- GRCh38:
- Chr3:30691538
| TGFBR2 | S548L, S573L, S453L, S549L, S584L, S609L, S258L, S428L, S513L, S547L, S557L | not provided, Loeys-Dietz syndrome 2, Malignant tumor of esophagus,
Colorectal cancer, hereditary nonpolyposis, type 6, not specified, Familial thoracic aortic aneurysm and aortic dissection
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713801
- GRCh38:
- Chr3:30672309
| TGFBR2 | V401M, V376M, V256M, V437M, V341M, V412M, V377M, V281M, V385M | Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30732934
- GRCh38:
- Chr3:30691442
| TGFBR2 | T516M, T541M, T396M, T421M, T517M, T577M, T226M, T552M, T481M, T515M, T525M | Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30686236
- GRCh38:
- Chr3:30644744
| TGFBR2 | | Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, not provided
| Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713244
- GRCh38:
- Chr3:30671752
| TGFBR2 | R190H, R215H, R251H, R226H, R70H, R191H, R95H, R155H, R199H | Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Loeys-Dietz syndrome 2 | Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:79245582
- GRCh38:
- Chr16:79211685
| MAF, WWOX | | not provided, Malignant tumor of esophagus, not specified,
Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 28,
Malignant tumor of esophagus, Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 28,
Autosomal recessive spinocerebellar ataxia 12 | Benign/Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30686424
- GRCh38:
- Chr3:30644932
| TGFBR2 | | Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus,
not specified, Familial thoracic aortic aneurysm and aortic dissection | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578266
- GRCh38:
- Chr17:7674948
| TP53 | I156F, I195F, I63F, I36F | not provided, Malignant tumor of esophagus, Li-Fraumeni syndrome,
Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Mar 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30713690
- GRCh38:
- Chr3:30672198
| TGFBR2 | R364W, R339W, R304W, R348W, R375W, R340W, R400W, R219W, R244W | Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
not specified, Familial thoracic aortic aneurysm and aortic dissection, not provided
| Conflicting interpretations of pathogenicity
(Mar 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30733419
- GRCh38:
- Chr3:30691927
| TGFBR2 | | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Malignant tumor of esophagus,
Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome
| Uncertain significance
(Sep 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30648183
- GRCh38:
- Chr3:30606691
| LOC129936399, TGFBR2 | | Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
Loeys-Dietz syndrome 2, Loeys-Dietz syndrome, Marfan syndrome
| Uncertain significance
(Aug 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30648069
- GRCh38:
- Chr3:30606577
| TGFBR2 | | Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2,
Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus, Marfan syndrome
| Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30648005
- GRCh38:
- Chr3:30606513
| TGFBR2 | | Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
Malignant tumor of esophagus, Loeys-Dietz syndrome, Marfan syndrome
| Uncertain significance
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713602
- GRCh38:
- Chr3:30672110
| TGFBR2 | | not provided, Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer, hereditary nonpolyposis, type 6,
Loeys-Dietz syndrome 2, Malignant tumor of esophagus | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713828
- GRCh38:
- Chr3:30672336
| TGFBR2 | I385V, I410V, I421V, I265V, I290V, I350V, I386V, I394V, I446V | Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype, Malignant tumor of esophagus,
Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, not provided
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713882
- GRCh38:
- Chr3:30672390
| TGFBR2 | R428C, R403C, R412C, R464C, R283C, R308C, R368C, R404C, R439C | Cardiovascular phenotype, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6,
Loeys-Dietz syndrome 2, not provided, Familial thoracic aortic aneurysm and aortic dissection
| Uncertain significance
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30729937
- GRCh38:
- Chr3:30688445
| TGFBR2 | | not provided, not specified, Colorectal cancer, hereditary nonpolyposis, type 6,
Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Familial thoracic aortic aneurysm and aortic dissection
| Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78420775
- GRCh38:
- Chr16:78386878
| WWOX | A179T, A66T | Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12,
Malignant tumor of esophagus, Developmental and epileptic encephalopathy, 28, Autosomal recessive spinocerebellar ataxia 12,
Developmental and epileptic encephalopathy, 28, not specified, not provided,
Developmental and epileptic encephalopathy, 1 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713642
- GRCh38:
- Chr3:30672150
| TGFBR2 | L348V, L323V, L228V, L288V, L324V, L332V, L203V, L384V, L359V | Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus,
Familial thoracic aortic aneurysm and aortic dissection, not provided, Loeys-Dietz syndrome
| Uncertain significance
(Oct 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:78458951
- GRCh38:
- Chr16:78425054
| WWOX | R264*, R151* | Developmental and epileptic encephalopathy, 28, Malignant tumor of esophagus, Developmental and epileptic encephalopathy, 28,
Autosomal recessive spinocerebellar ataxia 12, Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1,
not provided | Pathogenic
(Oct 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30686260
- GRCh38:
- Chr3:30644768
| TGFBR2 | T39N, T64N, T48N, T4N | not provided, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
Malignant tumor of esophagus, not specified, Familial thoracic aortic aneurysm and aortic dissection
| Uncertain significance
(Mar 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713435
- GRCh38:
- Chr3:30671943
| TGFBR2 | R254C, R279C, R159C, R290C, R315C, R134C, R219C, R255C, R263C | Malignant tumor of esophagus, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30691910
- GRCh38:
- Chr3:30650418
| TGFBR2 | C138G, C163G, C103G, C147G | Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity
(Sep 29, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30664762
- GRCh38:
- Chr3:30623270
| TGFBR2 | H56N, H40N | not provided, Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus,
Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6 | Conflicting interpretations of pathogenicity
(Jun 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30713883
- GRCh38:
- Chr3:30672391
| TGFBR2 | R403H, R428H, R404H, R283H, R308H, R412H, R439H, R368H, R464H | Marfan syndrome, not specified, Loeys-Dietz syndrome 2,
Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome,
Familial thoracic aortic aneurysm and aortic dissection | Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713246
- GRCh38:
- Chr3:30671754
| TGFBR2 | V216I, V191I, V192I, V200I, V227I, V252I, V71I, V156I, V96I | Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus,
not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Loeys-Dietz syndrome, Loeys-Dietz syndrome 2 | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713834
- GRCh38:
- Chr3:30672342
| TGFBR2 | V387M, V412M, V267M, V423M, V448M, V396M, V352M, V292M, V388M | Malignant tumor of esophagus, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
Ehlers-Danlos syndrome, not specified, not provided,
Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndromeLoeys-Dietz syndrome 2,
...see more | Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30664707
- GRCh38:
- Chr3:30623215
| TGFBR2 | | Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
not specified, Familial thoracic aortic aneurysm and aortic dissection | Benign/Likely benign
(Aug 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30713794
- GRCh38:
- Chr3:30672302
| TGFBR2 | M373I, M398I, M409I, M253I, M338I, M374I, M278I, M382I, M434I | Connective tissue disorder, not specified, Loeys-Dietz syndrome 2,
Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus, Ehlers-Danlos syndrome,
not provided, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30729962
- GRCh38:
- Chr3:30688470
| TGFBR2 | R495*, R520*, R205*, R556*, R400*, R375*, R504*, R531*, R460*, R494*, R496* | Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus, Loeys-Dietz syndrome 2,
not provided, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
| Pathogenic
(May 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:30732963
- GRCh38:
- Chr3:30691471
| TGFBR2 | E526Q, E551Q, E236Q, E431Q, E491Q, E525Q, E587Q, E562Q, E406Q, E527Q, E535Q | Familial thoracic aortic aneurysm and aortic dissection | Pathogenic
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7578406
- GRCh38:
- Chr17:7675088
| TP53 | R175H, R136H, R43H, R16H | Carcinoma of pancreas, Choroid plexus papilloma, Nasopharyngeal carcinoma,
Li-Fraumeni syndrome 1, Glioma susceptibility 1, Adrenocortical carcinoma, hereditary,
Bone osteosarcoma, Colorectal cancer, Basal cell carcinoma, susceptibility to, 7,
Bone marrow failure syndrome 5, Hepatocellular carcinomaFamilial cancer of breast,
Hereditary cancer-predisposing syndrome, Colorectal cancer, not provided,
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck,
...see more | Pathogenic
(May 11, 2023) | criteria provided, multiple submitters, no conflicts |