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Items: 1 to 100 of 393

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:43606658
GRCh38:
Chr10:43111210
RETG169W, G181W, G248W, G277W, G291W, G327W, G380W, G423W, G93WMultiple endocrine neoplasia, type 2aUncertain significance
(May 23, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr10:43613840-43613843
GRCh38:
Chr10:43118392-43118395
RETE285D, E333D, E373D, E424D, E426D, E429D, E438D, E469D, E514D, E526D, E593D, E622D, E636D, E672D, E680D, E723D, E725D, E768DMultiple endocrine neoplasia, type 2aPathogenic
(Mar 22, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr10:43620387
GRCh38:
Chr10:43124939
RETA516G, A564G, A604G, A655G, A657G, A660G, A669G, A700G, A745G, A757G, A824G, A853G, A867G, A903G, A911G, A954G, A956G, A999GMultiple endocrine neoplasia, type 2aUncertain significance
(Mar 31, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr10:43615006
GRCh38:
Chr10:43119558
RETA324G, A372G, A412G, A463G, A465G, A468G, A477G, A508G, A553G, A565G, A632G, A661G, A675G, A711G, A719G, A762G, A764G, A807GMultiple endocrine neoplasia, type 2aUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr10:43609944-43609946
GRCh38:
Chr10:43114496-43114498
RETL150del, L198del, L238del, L291del, L294del, L303del, L334del, L379del, L391del, L458del, L487del, L501del, L537del, L590del, L633delMultiple endocrine neoplasia, type 2aUncertain significance
(Jul 18, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr10:43600359
GRCh38:
Chr10:43104911
RETnot specified, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma
Likely benign
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr10:43615019
GRCh38:
Chr10:43119571
RETMultiple 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
8.
GRCh37:
Chr10:43609141
GRCh38:
Chr10:43113693
RETMultiple 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
9.
GRCh37:
Chr10:43601806
GRCh38:
Chr10:43106358
RETMultiple 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
10.
GRCh37:
Chr10:43604697
GRCh38:
Chr10:43109249
RETMultiple 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
11.
GRCh37:
Chr10:43600584
GRCh38:
Chr10:43105136
RETHereditary 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
12.
GRCh37:
Chr10:43612194
GRCh38:
Chr10:43116746
RETMultiple 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
13.
GRCh37:
Chr10:43619269
GRCh38:
Chr10:43123821
RETMultiple 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
14.
GRCh37:
Chr10:43572796
GRCh38:
Chr10:43077348
RETMultiple 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
15.
GRCh37:
Chr10:43607686
GRCh38:
Chr10:43112238
RETMultiple 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
16.
GRCh37:
Chr10:43598088
GRCh38:
Chr10:43102640
RETMultiple 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
17.
GRCh37:
Chr10:43604645
GRCh38:
Chr10:43109197
RETHereditary 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
18.
GRCh37:
Chr10:43615066
GRCh38:
Chr10:43119618
RETL827P, L573P, L344P, L392P, L528P, L652P, L739P, L784P, L483P, L488P, L681P, L432P, L585P, L695P, L731P, L485P, L497P, L782PMultiple 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
19.
GRCh37:
Chr10:43598044
GRCh38:
Chr10:43102596
RETP198S, P155SHirschsprung 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
20.
GRCh37:
Chr10:43622157
GRCh38:
Chr10:43126709
RETE1058D, E804D, E714D, E728D, E926D, E962D, E1013D, E1015D, E663D, E816D, E883D, E623D, E716D, E719D, E759D, E970D, E575D, E912DMultiple 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
21.
GRCh37:
Chr10:43609073
GRCh38:
Chr10:43113625
RETN610S, N356S, N215S, N268S, N478S, N567S, N127S, N280S, N311S, N514S, N368S, N435S, N464SHereditary 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
22.
GRCh37:
Chr1:10384920
GRCh38:
Chr1:10324862
KIF1BY881C, Y835CHereditary cancer-predisposing syndrome, Charcot-Marie-Tooth disease type 2, Multiple endocrine neoplasia, type 2a
Conflicting interpretations of pathogenicity
(Jun 6, 2023)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr10:43622162
GRCh38:
Chr10:43126714
RETK806R, K1060R, K1015R, K625R, K718R, K761R, K885R, K972R, K716R, K721R, K818R, K964R, K1017R, K577R, K914R, K928R, K665R, K730RHereditary 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
24.
GRCh37:
Chr10:43609070
GRCh38:
Chr10:43113622
RETC609S, C355S, C126S, C279S, C214S, C367S, C463S, C477S, C566S, C267S, C310S, C434S, C513SMultiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome
Pathogenic
(Apr 6, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr10:43572832
GRCh38:
Chr10:43077384
RETnot provided, Multiple endocrine neoplasia, type 2aBenign
(Aug 6, 2019)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr10:43606650
GRCh38:
Chr10:43111202
RETnot 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
27.
GRCh37:
Chr10:43615073
GRCh38:
Chr10:43119625
RETMultiple 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
28.
GRCh37:
Chr10:43601916
GRCh38:
Chr10:43106468
RETHereditary 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
29.
GRCh37:
Chr10:43615621
GRCh38:
Chr10:43120173
RETMultiple 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
30.
GRCh37:
Chr10:43607641
GRCh38:
Chr10:43112193
RETMultiple 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
31.
GRCh37:
Chr10:43620376
GRCh38:
Chr10:43124928
RETMultiple 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
32.
GRCh37:
Chr10:43598017
GRCh38:
Chr10:43102569
RETR189C, R146CHereditary 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
33.
GRCh37:
Chr10:43597896-43597898
GRCh38:
Chr10:43102448-43102450
RETF150delHirschsprung 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
34.
GRCh37:
Chr10:43609072
GRCh38:
Chr10:43113624
RETN356H, N610H, N280H, N464H, N127H, N215H, N268H, N435H, N478H, N514H, N311H, N368H, N567HHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2Uncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:43622107
GRCh38:
Chr10:43126659
RETD1042N, D788N, D559N, D698N, D954N, D999N, D647N, D700N, D703N, D743N, D800N, D896N, D910N, D946N, D607N, D712N, D867N, D997NMultiple 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
36.
GRCh37:
Chr10:43597904
GRCh38:
Chr10:43102456
RETN151IHereditary 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
37.
GRCh37:
Chr10:43623593-43623594
GRCh38:
Chr10:43128145-43128146
RETV1075fsMultiple 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
38.
GRCh37:
Chr10:43620422
GRCh38:
Chr10:43124974
RETK757E, K1011E, K712E, K865E, K879E, K923E, K528E, K576E, K669E, K672E, K681E, K769E, K966E, K836E, K915E, K968E, K616E, K667EHereditary 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
39.
GRCh37:
Chr10:43622027
GRCh38:
Chr10:43126579
RETY761C, Y1015C, Y673C, Y773C, Y869C, Y883C, Y919C, Y671C, Y840C, Y972C, Y532C, Y580C, Y676C, Y685C, Y927C, Y970C, Y620C, Y716CHereditary 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
40.
GRCh37:
Chr10:43600451
GRCh38:
Chr10:43105003
RETR226P, R130P, R183PMultiple 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
41.
GRCh37:
Chr10:43610126
GRCh38:
Chr10:43114678
RETR693H, R439H, R451H, R648H, R650H, R351H, R363H, R394H, R547H, R605H, R210H, R298H, R597H, R258H, R349H, R354H, R518H, R561HMultiple 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
42.
GRCh37:
Chr10:43606776
GRCh38:
Chr10:43111328
RETS462L, S208L, S132L, S366L, S287L, S316L, S419L, S220L, S330LHereditary 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
43.
GRCh37:
Chr10:43572765
GRCh38:
Chr10:43077317
RETP20QHereditary 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
44.
GRCh37:
Chr10:43622123
GRCh38:
Chr10:43126675
RETP1047L, P793L, P1004L, P564L, P612L, P872L, P705L, P748L, P805L, P901L, P1002L, P652L, P717L, P915L, P951L, P703L, P708L, P959LHereditary 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
45.
GRCh37:
Chr10:43600524
GRCh38:
Chr10:43105076
RETHereditary 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
46.
GRCh37:
Chr10:43601916
GRCh38:
Chr10:43106468
RETHereditary 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
47.
GRCh37:
Chr10:43596011
GRCh38:
Chr10:43100563
RETP60SMultiple 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
48.
GRCh37:
Chr10:43609055
GRCh38:
Chr10:43113607
RETA350V, A604V, A305V, A362V, A458V, A561V, A274V, A472V, A121V, A209V, A262V, A429V, A508VMultiple 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
49.
GRCh37:
Chr10:43597895
GRCh38:
Chr10:43102447
RETS148FHereditary 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
50.
GRCh37:
Chr10:43623564
GRCh38:
Chr10:43128116
RETM1064IHereditary 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
(Dec 29, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr10:43597925
GRCh38:
Chr10:43102477
RETS158N, S115NMultiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2
Uncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr10:43606645
GRCh38:
Chr10:43111197
RETMultiple 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
53.
GRCh37:
Chr10:43622167
GRCh38:
Chr10:43126719
RETY1062H, Y808H, Y1017H, Y718H, Y723H, Y930H, Y974H, Y579H, Y732H, Y763H, Y916H, Y1019H, Y627H, Y667H, Y887H, Y720H, Y820H, Y966HHirschsprung 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
54.
GRCh37:
Chr10:43601846
GRCh38:
Chr10:43106398
RETR43H, R297H, R201H, R254HHirschsprung 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
55.
GRCh37:
Chr10:43620417
GRCh38:
Chr10:43124969
RETM1009T, M755T, M679T, M913T, M526T, M574T, M665T, M767T, M863T, M921T, M964T, M667T, M670T, M877T, M614T, M710T, M834T, M966TMultiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome,
not provided
Uncertain significance
(Jul 25, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:43604556
GRCh38:
Chr10:43109108
RETF381L, F127L, F235L, F338L, F139L, F285L, F51LHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a,
not provided
Conflicting interpretations of pathogenicity
(Jun 10, 2023)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr10:43615036
GRCh38:
Chr10:43119588
RETR563H, R817H, R382H, R478H, R487H, R575H, R642H, R334H, R475H, R685H, R518H, R671H, R729H, R772H, R422H, R473H, R721H, R774HMultiple 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
58.
GRCh37:
Chr10:43613822
GRCh38:
Chr10:43118374
RETE762D, E508D, E418D, E420D, E520D, E327D, E423D, E587D, E666D, E279D, E367D, E463D, E630D, E674D, E717D, E432D, E616D, E719DHereditary 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
59.
GRCh37:
Chr10:43606754
GRCh38:
Chr10:43111306
RETV201I, V455I, V213I, V280I, V412I, V309I, V323I, V359I, V125IHereditary 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
60.
GRCh37:
Chr10:43615178
GRCh38:
Chr10:43119730
RETMultiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndromeLikely benign
(Nov 11, 2019)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:43595857
GRCh38:
Chr10:43100409
RETMultiple endocrine neoplasia, type 2aBenign
(May 28, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr10:43596019
GRCh38:
Chr10:43100571
RETHirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2
Likely benign
(Mar 23, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:43600497
GRCh38:
Chr10:43105049
RETHereditary 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
64.
GRCh37:
Chr10:43595971
GRCh38:
Chr10:43100523
RETHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Pheochromocytoma,
Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a
Likely benign
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:29448401
GRCh38:
Chr2:29225535
ALKL1033HHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Neuroblastoma, susceptibility to, 3
Likely benign
(Jun 6, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr10:43608294
GRCh38:
Chr10:43112846
RETMultiple 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
67.
GRCh37:
Chr10:43606702
GRCh38:
Chr10:43111254
RETHereditary 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
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:43610137
GRCh38:
Chr10:43114689
RETHirschsprung 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
69.
GRCh37:
Chr10:43600599
GRCh38:
Chr10:43105151
RETHirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome,
not provided, Multiple endocrine neoplasia, type 2
Likely benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr10:43615631
GRCh38:
Chr10:43120183
RETS650A, S904A, S421A, S758A, S808A, S509A, S560A, S562A, S565A, S574A, S662A, S772A, S816A, S469A, S605A, S729A, S859A, S861AHereditary 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
(Jun 12, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr10:43600475
GRCh38:
Chr10:43105027
RETR234Q, R138Q, R191QFamilial 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
72.
GRCh37:
Chr10:43613901
GRCh38:
Chr10:43118453
RETK535E, K789E, K445E, K693E, K701E, K459E, K490E, K547E, K306E, K354E, K614E, K643E, K394E, K447E, K450E, K657E, K744E, K746EHereditary 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
73.
GRCh37:
Chr10:43612104
GRCh38:
Chr10:43116656
RETK483Q, K737Q, K254Q, K302Q, K342Q, K393Q, K649Q, K398Q, K495Q, K605Q, K641Q, K395Q, K407Q, K562Q, K591Q, K438Q, K692Q, K694QMultiple 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
74.
GRCh37:
Chr10:43595915
GRCh38:
Chr10:43100467
RETG28SHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, not provided,
Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b
Conflicting interpretations of pathogenicity
(May 31, 2023)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr10:43614996
Chr10:43619149
GRCh38:
Chr10:43119548
Chr10:43123701
RET, RETV804M, 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, I856MMedullary thyroid carcinomaPathogenic
(Jun 15, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr10:43619151
GRCh38:
Chr10:43123703
RETV945A, V691A, V462A, V510A, V601A, V603A, V646A, V799A, V857A, V703A, V849A, V606A, V615A, V900A, V902A, V550A, V770A, V813AMultiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2Uncertain significance
(May 21, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr10:43606857
GRCh38:
Chr10:43111409
RETD489V, D235V, D247V, D343V, D159V, D357V, D446V, D314V, D393VMultiple endocrine neoplasia, type 2aUncertain significance
(Jul 2, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr10:43606768
GRCh38:
Chr10:43111320
RETE459D, E205D, E284D, E313D, E129D, E327D, E416D, E217D, E363DMultiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2aUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr10:43604598
GRCh38:
Chr10:43109150
RETV395L, V141L, V352L, V65L, V299L, V153L, V249LHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a,
not provided
Uncertain significance
(Dec 13, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr10:43600426
GRCh38:
Chr10:43104978
RETP218S, P122S, P175SMultiple 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
81.
GRCh37:
Chr10:43597880
GRCh38:
Chr10:43102432
RETA143VMultiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a
Uncertain significance
(Aug 14, 2021)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:43612057
GRCh38:
Chr10:43116609
RETR721Q, R467Q, R286Q, R377Q, R479Q, R625Q, R379Q, R391Q, R589Q, R676Q, R326Q, R422Q, R678Q, R238Q, R382Q, R546Q, R575Q, R633QHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, not provided,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a
Uncertain significance
(Jul 25, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:43617418
GRCh38:
Chr10:43121970
RETA919P, A665P, A620P, A677P, A744P, A787P, A575P, A577P, A580P, A589P, A831P, A436P, A773P, A484P, A524P, A823P, A874P, A876PMultiple 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
(Jun 6, 2023)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr10:43610177
GRCh38:
Chr10:43114729
RETK710R, K456R, K227R, K380R, K564R, K614R, K366R, K371R, K411R, K535R, K275R, K315R, K578R, K368R, K468R, K622R, K665R, K667RHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b,
Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, Multiple endocrine neoplasia, type 2Renal hypodysplasia/aplasia 1,
...see more
Uncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr10:43597885
GRCh38:
Chr10:43102437
RETV145IHereditary cancer-predisposing syndrome, Congenital central hypoventilation, Hirschsprung disease, susceptibility to, 1,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a, not provided, Multiple endocrine neoplasia, type 2
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr10:43606814
GRCh38:
Chr10:43111366
RETR475W, R221W, R300W, R329W, R145W, R432W, R233W, R343W, R379WMultiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b,
Familial medullary thyroid carcinoma, Pheochromocytoma, Multiple endocrine neoplasia, type 2a,
not provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a
Uncertain significance
(Mar 27, 2023)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr10:43612077
GRCh38:
Chr10:43116629
RETK728E, K474E, K245E, K389E, K553E, K333E, K632E, K293E, K386E, K429E, K486E, K582E, K596E, K640E, K384E, K398E, K683E, K685EHereditary 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
88.
GRCh37:
Chr10:43607571
GRCh38:
Chr10:43112123
RETP516R, P262R, P274R, P370R, P420R, P174R, P473R, P186R, P217R, P33R, P121R, P341R, P384RHereditary 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
89.
GRCh37:
Chr10:43597850
GRCh38:
Chr10:43102402
RETR133HHereditary cancer-predisposing syndrome, not specified, Multiple endocrine neoplasia, type 2,
Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b,
Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma
Conflicting interpretations of pathogenicity
(May 3, 2023)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr10:43598054
GRCh38:
Chr10:43102606
RETS201T, S158THereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2,
Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b
Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:43609120
GRCh38:
Chr10:43113672
RETQ626K, Q372K, Q231K, Q143K, Q296K, Q384K, Q494K, Q284K, Q480K, Q327K, Q451K, Q530K, Q583KMultiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome
Uncertain significance
(Feb 28, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr10:43622159
GRCh38:
Chr10:43126711
RETN1059S, N805S, N664S, N927S, N1014S, N1016S, N576S, N717S, N715S, N760S, N817S, N884S, N913S, N971S, N624S, N720S, N729S, N963SPheochromocytoma, 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
93.
GRCh37:
Chr10:43623558
GRCh38:
Chr10:43128110
RETMultiple endocrine neoplasia, type 2aUncertain significance
(May 30, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr10:43612014
GRCh38:
Chr10:43116566
RETMultiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2Likely benign
(Jun 7, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr10:43608297
GRCh38:
Chr10:43112849
RETMultiple endocrine neoplasia, Multiple endocrine neoplasia, type 2, Renal hypodysplasia/aplasia 1,
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1,
Pheochromocytoma
Conflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr10:43613817
GRCh38:
Chr10:43118369
RETHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2
Conflicting interpretations of pathogenicity
(Apr 17, 2023)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr10:43601972
GRCh38:
Chr10:43106524
RETS339L, S85L, S296L, S243LMultiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Pheochromocytoma,
Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Apr 17, 2023)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr10:43604498
GRCh38:
Chr10:43109050
RETN361K, N107K, N215K, N265K, N31K, N119K, N318KHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, not specified,
not provided, Multiple endocrine neoplasia, type 2a
Uncertain significance
(Dec 13, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:43606658
GRCh38:
Chr10:43111210
RETG423R, G169R, G248R, G327R, G93R, G181R, G277R, G291R, G380RMultiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome,
not provided
Uncertain significance
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:43596181
GRCh38:
Chr10:43100733
RETnot provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
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