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Links from MedGen

Items: 27

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
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
2.
GRCh37:
Chr11:64577210-64577211
GRCh38:
Chr11:64809738-64809739
MEN1V124fsMultiple endocrine neoplasia, type 1, Medullary thyroid carcinoma, Abnormal circulating calcium concentration,
Calcium nephrolithiasis, Parathyroid gland adenoma, Primary hyperparathyroidism,
Pancreatic insulin-producing neuroendocrine tumor		Pathogenic
(Jan 1, 2017)		criteria provided, single submitter
3.
GRCh37:
Chr10:43615612-43615623
GRCh38:
Chr10:43120164-43120175
RETHereditary cancer-predisposing syndromeUncertain significance
(Apr 19, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr10:43609942-43609947
GRCh38:
Chr10:43114494-43114499
RETMultiple endocrine neoplasia, type 2Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr10:43609074-43609100
GRCh38:
Chr10:43113626-43113652
RETMedullary thyroid carcinomaLikely pathogenic
(Jul 14, 2015)		no assertion criteria provided
6.
GRCh37:
Chr12:25380276
GRCh38:
Chr12:25227342
KRASQ61LNon-small cell lung carcinomaPathogenic
(Nov 2, 2011)		criteria provided, single submitter
7.
GRCh37:
Chr10:43615568-43615569
GRCh38:
Chr10:43120120-43120121
RETA883F, A629F, A544F, A737F, A795F, A840F, A400F, A448F, A488F, A553F, A787F, A751F, A838F, A584F, A641F, A708F, A539F, A541FHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b
Pathogenic/Likely pathogenic
(May 21, 2023)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr10:43614996
GRCh38:
Chr10:43119548
RETV804L, V550L, V369L, V460L, V462L, V505L, V629L, V759L, V761L, V409L, V465L, V474L, V562L, V716L, V321L, V658L, V672L, V708LHereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2,
MEN2 phenotype: Unclassified		Pathogenic
(Mar 6, 2023)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr10:43615577
GRCh38:
Chr10:43120129
RETR632W, R754W, R542W, R547W, R843W, R403W, R451W, R491W, R587W, R790W, R841W, R544W, R556W, R644W, R711W, R740W, R798WHereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2,
Renal hypoplasia/aplasia		Conflicting interpretations of pathogenicity
(Apr 24, 2022)		criteria provided, conflicting interpretations
10.
GRCh37:
Chr10:43615038
GRCh38:
Chr10:43119590
RETE564K, E383K, E476K, E773K, E479K, E519K, E576K, E672K, E686K, E730K, E423K, E474K, E488K, E722K, E335K, E643K, E775KHereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2a, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1
Conflicting interpretations of pathogenicity
(Apr 18, 2023)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr10:43610044
GRCh38:
Chr10:43114596
RETK412E, K336E, K534E, K183E, K231E, K367E, K424E, K491E, K623E, K271E, K327E, K520E, K324E, K570EHereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2,
Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma,
Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1
Pathogenic/Likely pathogenic
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:43609940
GRCh38:
Chr10:43114492
RETD631G, D377G, D236G, D289G, D292G, D301G, D196G, D485G, D535G, D588G, D332G, D389G, D499G, D148G, D456GMedullary thyroid carcinomaLikely pathogenic
(Jul 14, 2015)		no assertion criteria provided
13.
GRCh37:
Chr10:43609936
GRCh38:
Chr10:43114488
RETC376R, C195R, C288R, C331R, C388R, C455R, C147R, C235R, C300R, C484R, C587R, C291R, C498R, C534RMultiple endocrine neoplasia, type 2Pathogenic
(Apr 23, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr10:43609097
GRCh38:
Chr10:43113649
RETC364Y, C223Y, C288Y, C522Y, C135Y, C276Y, C443Y, C472Y, C486Y, C575Y, C319Y, C376YHereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2
Pathogenic
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:43607555
GRCh38:
Chr10:43112107
RETE257K, E181K, E212K, E336K, E116K, E28K, E365K, E169K, E269K, E468K, E379K, E415KHereditary cancer-predisposing syndrome, not specified, not provided,
Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a
Conflicting interpretations of pathogenicity
(Jul 28, 2023)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr10:43601917
GRCh38:
Chr10:43106469
RETG67R, G278R, G225RMedullary thyroid carcinoma, Hereditary cancer-predisposing syndrome, not specified,
not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a
Conflicting interpretations of pathogenicity
(Oct 23, 2022)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr10:43615592
GRCh38:
Chr10:43120144
RETS891A, S637A, S716A, S745A, S795A, S848A, S547A, S549A, S846A, S456A, S496A, S592A, S649A, S759A, S408A, S552A, S561A, S803Anot specified, Hereditary cancer-predisposing syndrome, not provided,
Multiple endocrine neoplasia, type 2, MEN2 phenotype: Unclassified, Multiple endocrine neoplasia, type 2b,
Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a,
Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2bHirschsprung disease, susceptibility to, 1,
Pheochromocytoma, ...see more		Pathogenic
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:43613908
GRCh38:
Chr10:43118460
RETY791F, Y537F, Y447F, Y452F, Y461F, Y549F, Y616F, Y695F, Y703F, Y746F, Y748F, Y396F, Y492F, Y449F, Y645F, Y659F, Y308F, Y356Fnot provided, not specified, Multiple endocrine neoplasia, type 2a,
Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1,
Familial cancer of breast, Multiple endocrine neoplasia, Pheochromocytoma,
Hereditary cancer-predisposing syndrome, Renal hypodysplasia/aplasia 1 ...see more		Conflicting interpretations of pathogenicity
(Aug 15, 2023)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr10:43609070
GRCh38:
Chr10:43113622
RETC609Y, C355Y, C279Y, C463Y, C513Y, C310Y, C477Y, C367Y, C126Y, C214Y, C267Y, C434Y, C566YHereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2,
Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma		Pathogenic
(Apr 18, 2023)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr10:43613840
GRCh38:
Chr10:43118392
RETE768D, E514D, E636D, E333D, E424D, E526D, E593D, E723D, E285D, E426D, E429D, E438D, E622D, E672D, E680D, E725D, E373D, E469DHereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2
Pathogenic
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr10:43609096
GRCh38:
Chr10:43113648
RETC618R, C364R, C288R, C276R, C319R, C376R, C443R, C472R, C522R, C135R, C223R, C575R, C486RHereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2,
Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a		Pathogenic
(May 21, 2023)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr10:43617416
GRCh38:
Chr10:43121968
RETM918T, M664T, M579T, M676T, M772T, M786T, M875T, M830T, M873T, M483T, M574T, M588T, M743T, M822T, M435T, M576T, M619T, M523TInborn genetic diseases, Hereditary cancer-predisposing syndrome, not provided,
Multiple endocrine neoplasia, type 2, Medullary thyroid carcinoma, not specified,
Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1,
Familial medullary thyroid carcinoma, Joint hypermobilityTetralogy of Fallot,
Constipation, Thick vermilion border, Hypertelorism,
Hypothyroidism, Gingival overgrowth, Short stature,
...see more		Pathogenic/Likely pathogenic
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr10:43609950
GRCh38:
Chr10:43114502
RETC634W, C380W, C199W, C292W, C304W, C459W, C538W, C239W, C335W, C591W, C295W, C392W, C151W, C488W, C502WHereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2
Pathogenic
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr10:43609948
GRCh38:
Chr10:43114500
RETC634R, C380R, C239R, C295R, C304R, C392R, C502R, C459R, C292R, C335R, C488R, C538R, C151R, C199R, C591RThyroid gland carcinoma, Multiple endocrine neoplasia, type 2, not provided,
Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome		Pathogenic
(May 21, 2023)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr10:43609103
GRCh38:
Chr10:43113655
RETC620Y, C366Y, C225Y, C321Y, C445Y, C488Y, C524Y, C278Y, C290Y, C378Y, C577Y, C137Y, C474Ynot provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2
Pathogenic
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr10:43609949
GRCh38:
Chr10:43114501
RETC634Y, C380Y, C292Y, C392Y, C502Y, C538Y, C239Y, C335Y, C459Y, C591Y, C199Y, C304Y, C488Y, C151Y, C295Ynot provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2,
Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b		Pathogenic
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr10:43609948
Chr10:43609945
Chr10:43609944
GRCh38:
Chr10:43114500
Chr10:43114497
Chr10:43114496
RET, RET, RETC634R, C380R, C239R, C295R, C304R, C392R, C502R, C459R, C292R, C335R, C488R, C538R, C151R, C199R, C591R, L379V, L633V, L590V, L150V, L198V, L238V, L391V, L458V, L291V, L303V, L334V, L487V, L537V, L294V, L501V, E378D, E632D, E149D, E197D, E302D, E486D, E500D, E237D, E290D, E293D, E536D, E589D, E333D, E390D, E457DMultiple endocrine neoplasia, type 2aPathogenic
(Jan 1, 1994)		no assertion criteria provided
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