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Items: 1 to 100 of 253

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:43609969
GRCh38:
Chr10:43114521
RETA387P, A641P, A158P, A302P, A246P, A466P, A509P, A299P, A342P, A545P, A598P, A206P, A311P, A399P, A495PFamilial medullary thyroid carcinomaUncertain significance
(Jan 15, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr10:43600359
GRCh38:
Chr10:43104911
RETMultiple 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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
GRCh37:
Chr10:43604647
GRCh38:
Chr10:43109199
RETS157C, S411C, S315C, S368C, S81C, S265C, S169CHereditary cancer-predisposing syndrome, Familial medullary thyroid carcinomaUncertain significance
(May 25, 2021)
criteria provided, multiple submitters, no conflicts
20.
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
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
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
28.
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
29.
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
30.
GRCh37:
Chr10:43622120
GRCh38:
Chr10:43126672
RETA1046D, A792D, A611D, A651D, A914D, A563D, A716D, A900D, A1001D, A704D, A707D, A958D, A1003D, A702D, A747D, A804D, A871D, A950DFamilial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2Uncertain significance
(Feb 28, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:43609990
GRCh38:
Chr10:43114542
RETV394F, V648F, V318F, V406F, V165F, V306F, V309F, V502F, V516F, V552F, V605F, V253F, V349F, V213F, V473Fnot provided, Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma
Uncertain significance
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:156846327
GRCh38:
Chr1:156876535
NTRK1E554K, E584K, E590KHereditary insensitivity to pain with anhidrosis, Familial medullary thyroid carcinomaLikely pathogenic
(Jul 7, 2020)
no assertion criteria provided
33.
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
34.
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
35.
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
36.
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
37.
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
38.
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
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
GRCh37:
Chr10:43623564
GRCh38:
Chr10:43128116
RETM1064IHereditary 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
46.
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
47.
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
48.
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
49.
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
50.
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
51.
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
52.
GRCh37:
Chr10:43596019
GRCh38:
Chr10:43100571
RETMultiple 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
53.
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
54.
GRCh37:
Chr10:43595971
GRCh38:
Chr10:43100523
RETHereditary 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
55.
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
56.
GRCh37:
Chr10:43606702
GRCh38:
Chr10:43111254
RETHereditary 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
57.
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
58.
GRCh37:
Chr10:43600599
GRCh38:
Chr10:43105151
RETHereditary 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
59.
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,
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
60.
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
61.
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
62.
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
63.
GRCh37:
Chr10:43595915
GRCh38:
Chr10:43100467
RETG28Snot 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
64.
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
65.
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
66.
GRCh37:
Chr1:156849849
GRCh38:
Chr1:156880057
NTRK1R666H, R696H, R702HFamilial medullary thyroid carcinoma, Familial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosis
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:156845895
GRCh38:
Chr1:156876103
NTRK1D503H, D509H, D473HFamilial medullary thyroid carcinoma, Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
Uncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:156845420
GRCh38:
Chr1:156875628
NTRK1G482D, G452D, G488DFamilial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosisUncertain significance
(May 9, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:156845338
GRCh38:
Chr1:156875546
NTRK1G425R, G461R, G455RFamilial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosisUncertain significance
(Jul 21, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:156843694
GRCh38:
Chr1:156873902
NTRK1I344V, I374VFamilial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosisUncertain significance
(May 28, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr1:156841539
GRCh38:
Chr1:156871747
NTRK1N251S, N281SFamilial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosis, not provided
Uncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:156838306
GRCh38:
Chr1:156868514
NTRK1T165M, T195MInborn genetic diseases, Familial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosis
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr1:156836764
GRCh38:
Chr1:156866972
NTRK1Q111P, Q141PFamilial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosisUncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:156834587
GRCh38:
Chr1:156864795
NTRK1R119C, R89CFamilial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosisUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:156834573
GRCh38:
Chr1:156864781
NTRK1T114S, T84SFamilial medullary thyroid carcinoma, Hereditary insensitivity to pain with anhidrosisUncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:156811982
GRCh38:
Chr1:156842190
NTRK1, INSRRA40E, A1107Snot provided, Familial medullary thyroid carcinomaUncertain significance
(Oct 1, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:156811900
GRCh38:
Chr1:156842108
INSRR, NTRK1V13fsFamilial medullary thyroid carcinomaUncertain significance
(Jul 2, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr1:156811895
GRCh38:
Chr1:156842103
INSRR, NTRK1P11LHereditary insensitivity to pain with anhidrosis, Familial medullary thyroid carcinomaUncertain significance
(May 28, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr1:156811310-156811311
GRCh38:
Chr1:156841518-156841519
INSRR, NTRK1V1180fsFamilial medullary thyroid carcinomaUncertain significance
(Jul 2, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr10:43612057
GRCh38:
Chr10:43116609
RETR721Q, R467Q, R286Q, R377Q, R479Q, R625Q, R379Q, R391Q, R589Q, R676Q, R326Q, R422Q, R678Q, R238Q, R382Q, R546Q, R575Q, R633QHirschsprung 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
81.
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, 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
82.
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, 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
83.
GRCh37:
Chr10:43597885
GRCh38:
Chr10:43102437
RETV145IHereditary 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
84.
GRCh37:
Chr10:43606814
GRCh38:
Chr10:43111366
RETR475W, R221W, R300W, R329W, R145W, R432W, R233W, R343W, R379WHereditary 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
85.
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
86.
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
87.
GRCh37:
Chr10:43597850
GRCh38:
Chr10:43102402
RETR133HHirschsprung 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
88.
GRCh37:
Chr10:43598054
GRCh38:
Chr10:43102606
RETS201T, S158Tnot 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
89.
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
90.
GRCh37:
Chr10:43601972
GRCh38:
Chr10:43106524
RETS339L, S85L, S296L, S243LHereditary 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
91.
GRCh37:
Chr10:43606762
GRCh38:
Chr10:43111314
RETHereditary 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
92.
GRCh37:
Chr10:43595929
GRCh38:
Chr10:43100481
RETHereditary 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
93.
GRCh37:
Chr10:43610172
GRCh38:
Chr10:43114724
RETHereditary 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
94.
GRCh37:
Chr10:43620397
GRCh38:
Chr10:43124949
RETHereditary 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
95.
GRCh37:
Chr10:43623571
GRCh38:
Chr10:43128123
RETP1067SHereditary 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
96.
GRCh37:
Chr10:43615132
GRCh38:
Chr10:43119684
RETG849D, G595D, G454D, G505D, G510D, G550D, G804D, G366D, G507D, G674D, G717D, G761D, G414D, G607D, G703D, G753D, G519D, G806DPheochromocytoma, 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
97.
GRCh37:
Chr10:43604569
GRCh38:
Chr10:43109121
RETG385V, G131V, G342V, G143V, G289V, G55V, G239VHereditary 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
98.
GRCh37:
Chr10:43615578
GRCh38:
Chr10:43120130
RETR886Q, R632Q, R451Q, R491Q, R556Q, R644Q, R740Q, R790Q, R542Q, R547Q, R843Q, R403Q, R754Q, R841Q, R544Q, R587Q, R711Q, R798QHereditary 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
99.
GRCh37:
Chr10:43597802
GRCh38:
Chr10:43102354
RETP117HMultiple 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
100.
GRCh37:
Chr10:43620387
GRCh38:
Chr10:43124939
RETA999V, A745V, A516V, A669V, A867V, A954V, A604V, A700V, A757V, A911V, A564V, A657V, A853V, A956V, A655V, A660V, A824V, A903VMultiple 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
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