| - GRCh37:
- Chr10:43600359
- GRCh38:
- Chr10:43104911
| RET | | Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a | Likely benign
(Nov 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:43615019
- GRCh38:
- Chr10:43119571
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a
| Likely benign
(Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43609141
- GRCh38:
- Chr10:43113693
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a
| Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43601806
- GRCh38:
- Chr10:43106358
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a
| Likely benign
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43604697
- GRCh38:
- Chr10:43109249
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a
| Likely benign
(Jun 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43600584
- GRCh38:
- Chr10:43105136
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2a | Likely benign
(Apr 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43612194
- GRCh38:
- Chr10:43116746
| RET | | Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2
| Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43619269
- GRCh38:
- Chr10:43123821
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a
| Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43572796
- GRCh38:
- Chr10:43077348
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a
| Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43607686
- GRCh38:
- Chr10:43112238
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a
| Likely benign
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43598088
- GRCh38:
- Chr10:43102640
| RET | | Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2
| Likely benign
(Aug 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43604645
- GRCh38:
- Chr10:43109197
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2 | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43615066
- GRCh38:
- Chr10:43119618
| RET | L827P, L573P, L344P, L392P, L528P, L652P, L739P, L784P, L483P, L488P, L681P, L432P, L585P, L695P, L731P, L485P, L497P, L782P | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Pheochromocytoma
| Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43598044
- GRCh38:
- Chr10:43102596
| RET | P198S, P155S | Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2a, Pheochromocytoma, Multiple endocrine neoplasia, type 2
| Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43622157
- GRCh38:
- Chr10:43126709
| RET | E1058D, E804D, E714D, E728D, E926D, E962D, E1013D, E1015D, E663D, E816D, E883D, E623D, E716D, E719D, E759D, E970D, E575D, E912D | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a
| Uncertain significance
(Dec 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43609073
- GRCh38:
- Chr10:43113625
| RET | N610S, N356S, N215S, N268S, N478S, N567S, N127S, N280S, N311S, N514S, N368S, N435S, N464S | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Multiple endocrine neoplasia, type 2a | Uncertain significance
(Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43622162
- GRCh38:
- Chr10:43126714
| RET | K806R, K1060R, K1015R, K625R, K718R, K761R, K885R, K972R, K716R, K721R, K818R, K964R, K1017R, K577R, K914R, K928R, K665R, K730R | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2a,
Familial medullary thyroid carcinoma | Uncertain significance
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43606650
- GRCh38:
- Chr10:43111202
| RET | | not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43615073
- GRCh38:
- Chr10:43119625
| RET | | Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2
| Likely benign
(Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43601916
- GRCh38:
- Chr10:43106468
| RET | | Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Multiple endocrine neoplasia, type 2a,
not specified, Multiple endocrine neoplasia, type 2 | Benign/Likely benign
(Aug 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43615621
- GRCh38:
- Chr10:43120173
| RET | | Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Multiple endocrine neoplasia, type 2a | Likely benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43607641
- GRCh38:
- Chr10:43112193
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a
| Likely benign
(Nov 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43620376
- GRCh38:
- Chr10:43124928
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a
| Likely benign
(Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43598017
- GRCh38:
- Chr10:43102569
| RET | R189C, R146C | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Pheochromocytoma,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b | Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43597896-43597898
- GRCh38:
- Chr10:43102448-43102450
| RET | F150del | Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43609072
- GRCh38:
- Chr10:43113624
| RET | N356H, N610H, N280H, N464H, N127H, N215H, N268H, N435H, N478H, N514H, N311H, N368H, N567H | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2 | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43622107
- GRCh38:
- Chr10:43126659
| RET | D1042N, D788N, D559N, D698N, D954N, D999N, D647N, D700N, D703N, D743N, D800N, D896N, D910N, D946N, D607N, D712N, D867N, D997N | Multiple endocrine neoplasia, type 2, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b
| Uncertain significance
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43597904
- GRCh38:
- Chr10:43102456
| RET | N151I | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Pheochromocytoma,
Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2b | Uncertain significance
(Apr 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43609941-43609946
- GRCh38:
- Chr10:43114493-43114498
| RET | | Multiple endocrine neoplasia, type 2b | Likely pathogenic
(Nov 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:43623593-43623594
- GRCh38:
- Chr10:43128145-43128146
| RET | V1075fs | Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2
| Conflicting interpretations of pathogenicity
(Jul 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43620422
- GRCh38:
- Chr10:43124974
| RET | K757E, K1011E, K712E, K865E, K879E, K923E, K528E, K576E, K669E, K672E, K681E, K769E, K966E, K836E, K915E, K968E, K616E, K667E | Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Multiple endocrine neoplasia, type 2 | Uncertain significance
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43622027
- GRCh38:
- Chr10:43126579
| RET | Y761C, Y1015C, Y673C, Y773C, Y869C, Y883C, Y919C, Y671C, Y840C, Y972C, Y532C, Y580C, Y676C, Y685C, Y927C, Y970C, Y620C, Y716C | Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Multiple endocrine neoplasia, type 2 | Uncertain significance
(Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43600451
- GRCh38:
- Chr10:43105003
| RET | R226P, R130P, R183P | Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2b | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43610126
- GRCh38:
- Chr10:43114678
| RET | R693H, R439H, R451H, R648H, R650H, R351H, R363H, R394H, R547H, R605H, R210H, R298H, R597H, R258H, R349H, R354H, R518H, R561H | Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma,
Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b,
Hirschsprung disease, susceptibility to, 1 | Uncertain significance
(Nov 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43606776
- GRCh38:
- Chr10:43111328
| RET | S462L, S208L, S132L, S366L, S287L, S316L, S419L, S220L, S330L | Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1,
Ovarian cancer, Multiple endocrine neoplasia, type 2 | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43572765
- GRCh38:
- Chr10:43077317
| RET | P20Q | Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Multiple endocrine neoplasia, type 2 | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43622123
- GRCh38:
- Chr10:43126675
| RET | P1047L, P793L, P1004L, P564L, P612L, P872L, P705L, P748L, P805L, P901L, P1002L, P652L, P717L, P915L, P951L, P703L, P708L, P959L | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Pheochromocytoma,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b | Uncertain significance
(Mar 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43600524
- GRCh38:
- Chr10:43105076
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a | Conflicting interpretations of pathogenicity
(Aug 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43601916
- GRCh38:
- Chr10:43106468
| RET | | Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Multiple endocrine neoplasia, type 2 | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43615551
- GRCh38:
- Chr10:43120103
| RET | R624fs, R878fs | Multiple endocrine neoplasia, type 2b | Pathogenic
(Mar 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:43604577
- GRCh38:
- Chr10:43109129
| RET | V388F, V134F, V292F, V58F, V345F, V146F, V242F | Multiple endocrine neoplasia, type 2b | Uncertain significance
(Sep 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:43613849
- GRCh38:
- Chr10:43118401
| RET | D517E, D771E, D336E, D675E, D726E, D376E, D432E, D472E, D529E, D639E, D728E, D288E, D427E, D625E, D429E, D441E, D596E, D683E | Multiple endocrine neoplasia, type 2b | Uncertain significance
(Nov 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:43596011
- GRCh38:
- Chr10:43100563
| RET | P60S | Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Hereditary cancer-predisposing syndrome,
Multiple endocrine neoplasia, type 2 | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43609055
- GRCh38:
- Chr10:43113607
| RET | A350V, A604V, A305V, A362V, A458V, A561V, A274V, A472V, A121V, A209V, A262V, A429V, A508V | Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2
| Uncertain significance
(Apr 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43597895
- GRCh38:
- Chr10:43102447
| RET | S148F | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma | Uncertain significance
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43623564
- GRCh38:
- Chr10:43128116
| RET | M1064I | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2a | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43606645
- GRCh38:
- Chr10:43111197
| RET | | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1
| Uncertain significance
(Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43622167
- GRCh38:
- Chr10:43126719
| RET | Y1062H, Y808H, Y1017H, Y718H, Y723H, Y930H, Y974H, Y579H, Y732H, Y763H, Y916H, Y1019H, Y627H, Y667H, Y887H, Y720H, Y820H, Y966H | Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome,
Multiple endocrine neoplasia, type 2 | Uncertain significance
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43601846
- GRCh38:
- Chr10:43106398
| RET | R43H, R297H, R201H, R254H | Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome,
Multiple endocrine neoplasia, type 2 | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43615036
- GRCh38:
- Chr10:43119588
| RET | R563H, R817H, R382H, R478H, R487H, R575H, R642H, R334H, R475H, R685H, R518H, R671H, R729H, R772H, R422H, R473H, R721H, R774H | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43613822
- GRCh38:
- Chr10:43118374
| RET | E762D, E508D, E418D, E420D, E520D, E327D, E423D, E587D, E666D, E279D, E367D, E463D, E630D, E674D, E717D, E432D, E616D, E719D | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a | Uncertain significance
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43606754
- GRCh38:
- Chr10:43111306
| RET | V201I, V455I, V213I, V280I, V412I, V309I, V323I, V359I, V125I | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a | Uncertain significance
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43596019
- GRCh38:
- Chr10:43100571
| RET | | Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2a, Pheochromocytoma, Familial medullary thyroid carcinoma
| Likely benign
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43600497
- GRCh38:
- Chr10:43105049
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2b | Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43595971
- GRCh38:
- Chr10:43100523
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a | Likely benign
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43608294
- GRCh38:
- Chr10:43112846
| RET | | Multiple endocrine neoplasia, type 2, Pheochromocytoma, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma
| Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43606702
- GRCh38:
- Chr10:43111254
| RET | | Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2 | Likely benign
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43610137
- GRCh38:
- Chr10:43114689
| RET | | Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Multiple endocrine neoplasia, type 2,
Hereditary cancer-predisposing syndrome | Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43600599
- GRCh38:
- Chr10:43105151
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a,
Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b,
Pheochromocytoma, not provided | Likely benign
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43615631
- GRCh38:
- Chr10:43120183
| RET | S650A, S904A, S421A, S758A, S808A, S509A, S560A, S562A, S565A, S574A, S662A, S772A, S816A, S469A, S605A, S729A, S859A, S861A | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2a | Uncertain significance
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43600475
- GRCh38:
- Chr10:43105027
| RET | R234Q, R138Q, R191Q | Familial medullary thyroid carcinoma, not provided, Hereditary cancer-predisposing syndrome,
Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma, Pheochromocytoma,
Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b
| Conflicting interpretations of pathogenicity
(May 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43613901
- GRCh38:
- Chr10:43118453
| RET | K535E, K789E, K445E, K693E, K701E, K459E, K490E, K547E, K306E, K354E, K614E, K643E, K394E, K447E, K450E, K657E, K744E, K746E | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a,
Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2 | Conflicting interpretations of pathogenicity
(Nov 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43612104
- GRCh38:
- Chr10:43116656
| RET | K483Q, K737Q, K254Q, K302Q, K342Q, K393Q, K649Q, K398Q, K495Q, K605Q, K641Q, K395Q, K407Q, K562Q, K591Q, K438Q, K692Q, K694Q | Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43595915
- GRCh38:
- Chr10:43100467
| RET | G28S | not provided, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b,
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43614996
- Chr10:43619149
- GRCh38:
- Chr10:43119548
- Chr10:43123701
| RET, RET | V804M, V550M, V321M, V460M, V672M, V759M, V369M, V409M, V462M, V658M, V708M, V465M, V505M, V629M, V716M, V474M, V562M, V761M, I944M, I690M, I509M, I602M, I645M, I901M, I600M, I769M, I798M, I812M, I461M, I605M, I614M, I702M, I899M, I549M, I848M, I856M | Medullary thyroid carcinoma | Pathogenic
(Jun 15, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:43600426
- GRCh38:
- Chr10:43104978
| RET | P218S, P122S, P175S | Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a,
Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2a,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b | Uncertain significance
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43612057
- GRCh38:
- Chr10:43116609
| RET | R721Q, R467Q, R286Q, R377Q, R479Q, R625Q, R379Q, R391Q, R589Q, R676Q, R326Q, R422Q, R678Q, R238Q, R382Q, R546Q, R575Q, R633Q | Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a, Pheochromocytoma, Hereditary cancer-predisposing syndrome,
Multiple endocrine neoplasia, type 2, not provided | Uncertain significance
(Nov 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43617418
- GRCh38:
- Chr10:43121970
| RET | A919P, A665P, A620P, A677P, A744P, A787P, A575P, A577P, A580P, A589P, A831P, A436P, A773P, A484P, A524P, A823P, A874P, A876P | Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a,
Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma,
Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43610177
- GRCh38:
- Chr10:43114729
| RET | K710R, K456R, K227R, K380R, K564R, K614R, K366R, K371R, K411R, K535R, K275R, K315R, K578R, K368R, K468R, K622R, K665R, K667R | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma, Familial medullary thyroid carcinoma, Pheochromocytoma,
Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, Multiple endocrine neoplasia, type 2Renal hypodysplasia/aplasia 1,
...see more | Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43597885
- GRCh38:
- Chr10:43102437
| RET | V145I | Hereditary cancer-predisposing syndrome, Congenital central hypoventilation, Familial medullary thyroid carcinoma,
Pheochromocytoma, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2, not provided
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43606814
- GRCh38:
- Chr10:43111366
| RET | R475W, R221W, R300W, R329W, R145W, R432W, R233W, R343W, R379W | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2,
Multiple endocrine neoplasia, type 2a, Pheochromocytoma, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43612077
- GRCh38:
- Chr10:43116629
| RET | K728E, K474E, K245E, K389E, K553E, K333E, K632E, K293E, K386E, K429E, K486E, K582E, K596E, K640E, K384E, K398E, K683E, K685E | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma | Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43607571
- GRCh38:
- Chr10:43112123
| RET | P516R, P262R, P274R, P370R, P420R, P174R, P473R, P186R, P217R, P33R, P121R, P341R, P384R | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma,
Pheochromocytoma, Multiple endocrine neoplasia, type 2a | Uncertain significance
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43597850
- GRCh38:
- Chr10:43102402
| RET | R133H | Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Hereditary cancer-predisposing syndrome,
Multiple endocrine neoplasia, type 2, not specified | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43598054
- GRCh38:
- Chr10:43102606
| RET | S201T, S158T | not provided, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Pheochromocytoma,
Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43622159
- GRCh38:
- Chr10:43126711
| RET | N1059S, N805S, N664S, N927S, N1014S, N1016S, N576S, N717S, N715S, N760S, N817S, N884S, N913S, N971S, N624S, N720S, N729S, N963S | Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2,
Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43601972
- GRCh38:
- Chr10:43106524
| RET | S339L, S85L, S296L, S243L | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Multiple endocrine neoplasia, type 2a,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43606762
- GRCh38:
- Chr10:43111314
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a,
Pheochromocytoma | Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43595929
- GRCh38:
- Chr10:43100481
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a,
Pheochromocytoma | Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43610172
- GRCh38:
- Chr10:43114724
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a,
Pheochromocytoma | Likely benign
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43620397
- GRCh38:
- Chr10:43124949
| RET | | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a,
Pheochromocytoma | Likely benign
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43623571
- GRCh38:
- Chr10:43128123
| RET | P1067S | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2a,
Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2
| Conflicting interpretations of pathogenicity
(Sep 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43615132
- GRCh38:
- Chr10:43119684
| RET | G849D, G595D, G454D, G505D, G510D, G550D, G804D, G366D, G507D, G674D, G717D, G761D, G414D, G607D, G703D, G753D, G519D, G806D | Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43609980-43609982
- GRCh38:
- Chr10:43114532-43114534
| RET | S645del, S391del, S499del, S210del, S315del, S346del, S513del, S549del, S306del, S470del, S602del, S162del, S250del, S303del, S403del | Hereditary cancer-predisposing syndrome, not specified, Multiple endocrine neoplasia, type 2,
Multiple endocrine neoplasia, type 2b | Uncertain significance
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43604569
- GRCh38:
- Chr10:43109121
| RET | G385V, G131V, G342V, G143V, G289V, G55V, G239V | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43615578
- GRCh38:
- Chr10:43120130
| RET | R886Q, R632Q, R451Q, R491Q, R556Q, R644Q, R740Q, R790Q, R542Q, R547Q, R843Q, R403Q, R754Q, R841Q, R544Q, R587Q, R711Q, R798Q | Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2a, not provided, Multiple endocrine neoplasia, type 2
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43597802
- GRCh38:
- Chr10:43102354
| RET | P117H | Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a | Uncertain significance
(Apr 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43620387
- GRCh38:
- Chr10:43124939
| RET | A999V, A745V, A516V, A669V, A867V, A954V, A604V, A700V, A757V, A911V, A564V, A657V, A853V, A956V, A655V, A660V, A824V, A903V | Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a | Uncertain significance
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43604553
- GRCh38:
- Chr10:43109105
| RET | D380N, D126N, D138N, D284N, D234N, D337N, D50N | Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b,
Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a
| Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43598029
- GRCh38:
- Chr10:43102581
| RET | V193L, V150L | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2 | Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43614974
- GRCh38:
- Chr10:43119526
| RET | | Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, not specified,
Multiple endocrine neoplasia, type 2 | Likely benign
(Dec 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43620413
- GRCh38:
- Chr10:43124965
| RET | M1008L, M754L, M525L, M669L, M678L, M912L, M920L, M963L, M965L, M613L, M664L, M666L, M766L, M862L, M573L, M709L, M833L, M876L | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma,
Familial medullary thyroid carcinoma | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43617453
- GRCh38:
- Chr10:43122005
| RET | | Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b,
Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2 | Likely benign
(Aug 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43597904
- GRCh38:
- Chr10:43102456
| RET | N151S | not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a,
Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Jan 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43610066
- GRCh38:
- Chr10:43114618
| RET | E673A, E419A, E238A, E329A, E334A, E498A, E331A, E628A, E630A, E190A, E343A, E374A, E431A, E585A, E278A, E527A, E541A, E577A | not specified, Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome,
not provided, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b,
Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43613826
- GRCh38:
- Chr10:43118378
| RET | A764T, A510T, A369T, A422T, A425T, A589T, A618T, A668T, A721T, A329T, A434T, A465T, A420T, A522T, A632T, A676T, A281T, A719T | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2a | Conflicting interpretations of pathogenicity
(Jan 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43600510
- GRCh38:
- Chr10:43105062
| RET | H246N, H203N, H150N | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2a | Conflicting interpretations of pathogenicity
(Jan 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43604517
- GRCh38:
- Chr10:43109069
| RET | R368C, R114C, R272C, R126C, R325C, R38C, R222C | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2, not provided | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:43572726
- GRCh38:
- Chr10:43077278
| LOC106736614, RET | G7D | Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b,
Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:43610053
- GRCh38:
- Chr10:43114605
| RET | I669V, I415V, I234V, I330V, I370V, I523V, I537V, I573V, I186V, I274V, I427V, I494V, I626V, I327V, I339V | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a | Conflicting interpretations of pathogenicity
(Apr 13, 2023) | criteria provided, conflicting interpretations |