Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)	SNV Germline	Chr10:43113648	Pathogenic	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided 6 conditions Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA007995	rs_76262710	15 SubmittersRCV000014919 RCV000228834 RCV000522833 RCV000762807 RCV002408462 RCV002470710 RCV004760333
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)	SNV Germline	Chr10:43114500	Pathogenic	Pheochromocytoma Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma MEN2 phenotype: Unclassified	Criteria Provided Multiple Submitters No Conflicts	CA008324	rs_75076352	11 SubmittersRCV000014923 RCV000014922 RCV000182581 RCV000654584 RCV001013616 RCV001310209 RCV001420921
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	SNV Germline	Chr10:43114501	Pathogenic	Pheochromocytoma Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 RET-related disorder Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA008348	rs_75996173	26 SubmittersRCV000014925 RCV000014924 RCV000129490 RCV000182582 RCV000425364 RCV000476408 RCV003989285 RCV004739307 RCV005394154
NM_020975.6(RET):c.1901G>C (p.Cys634Ser)	SNV Germline	Chr10:43114501	Pathogenic	Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008361	rs_75996173	5 SubmittersRCV000014926 RCV000014927 RCV000021824 RCV001262460 RCV002251730 RCV004668731
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)	SNV Germline	Chr10:43114501	Pathogenic	Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008370	rs_75996173	7 SubmittersRCV000014930 RCV000014928 RCV000014929 RCV000471652 RCV002408463 RCV003237413
NM_020975.6(RET):c.1833C>G (p.Cys611Trp)	SNV Germline	Chr10:43113629	Pathogenic	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA007954	rs_80069458	2 SubmittersRCV000014932 RCV002513055
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)	SNV Germline	Chr10:43113649	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008013	rs_79781594	16 SubmittersRCV000014934 RCV000014933 RCV000082050 RCV000161938 RCV001013348
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)	SNV Germline	Chr10:43113654	Pathogenic	Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Aganglionic megacolon Aganglionic megacolon Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA008055	rs_77316810	16 SubmittersRCV000014935 RCV000182580 RCV000232285 RCV000568259 RCV000736276 RCV000826204 RCV003324711
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)	SNV Germline	Chr10:43113655	Pathogenic	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided Aganglionic megacolon Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA008076	rs_77503355	10 SubmittersRCV000014936 RCV000021801 RCV000413879 RCV000678747 RCV002408464 RCV005394155
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	SNV Germline	Chr10:43114500	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia type 2A Pheochromocytoma Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Thyroid gland carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008315	rs_75076352	25 SubmittersRCV000014937 RCV000014938 RCV000082051 RCV000163338 RCV000552504 RCV000677899 RCV004795411 RCV003460479 RCV004739308
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)	SNV Germline	Chr10:43114502	Pathogenic	Multiple endocrine neoplasia type 2A Pheochromocytoma Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008378	rs_77709286	8 SubmittersRCV000014939 RCV000014940 RCV000405235 RCV000459040 RCV001013621
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	SNV Germline/somatic	Chr10:43121968	Pathogenic/Likely pathogenic	Thyroid carcinoma, sporadic medullary Pheochromocytoma Multiple endocrine neoplasia type 2B Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 8 conditions Medullary thyroid carcinoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome RET-related disorder Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma See cases Inherited phaeochromocytoma and paraganglioma excluding NF1	Criteria Provided Multiple Submitters No Conflicts	CA009082	rs_74799832	44 SubmittersRCV000014942 RCV000014943 RCV000014941 RCV000082054 RCV000175096 RCV000161926 RCV000415312 RCV000417859 RCV001292662 RCV001542764 RCV002255998 RCV004532351 RCV005394156 RCV005887525 RCV005865181
NM_020975.6(RET):c.2690G>A (p.Arg897Gln)	SNV Germline	Chr10:43120163	Pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA009008	rs_76087194	2 SubmittersRCV000014946
NM_020975.6(RET):c.2914A>G (p.Arg972Gly)	SNV Germline	Chr10:43123783	Likely pathogenic	Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Single Submitter	CA009130	rs_76534745	2 SubmittersRCV000014947 RCV005042054
NM_020975.6(RET):c.95C>T (p.Ser32Leu)	SNV Germline	Chr10:43100480	Likely pathogenic	Hirschsprung disease, susceptibility to, 1 Aganglionic megacolon Multiple endocrine neoplasia, type 2	Criteria Provided Multiple Submitters No Conflicts	CA009398	rs_76764689	4 SubmittersRCV000014948 RCV000678742 RCV002514098
NM_020975.6(RET):c.538C>T (p.Arg180Ter)	SNV Germline	Chr10:43102542	Pathogenic	Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia, type 2 RET-related disorder	Criteria Provided Single Submitter	CA009273	rs_76449634	3 SubmittersRCV000014950 RCV001206325 RCV004528111
NM_020975.6(RET):c.989G>A (p.Arg330Gln)	SNV Germline	Chr10:43106497	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia, type 2 Condition: not provided Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009415	rs_80236571	7 SubmittersRCV000014951 RCV001379274 RCV004696636 RCV005394157 RCV006277647
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)	SNV Germline	Chr10:43113655	Pathogenic	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008094	rs_77503355	16 SubmittersRCV000014953 RCV000233944 RCV000411165 RCV000485714 RCV002255999 RCV005394158
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)	SNV Germline	Chr10:43113648	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007985	rs_76262710	13 SubmittersRCV000014954 RCV000021792 RCV000114391 RCV000427260 RCV000345209 RCV002256000
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)	SNV Germline	Chr10:43118392	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hepatocellular carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008641	rs_78014899	9 SubmittersRCV000014956 RCV000021842 RCV001015022 RCV001811141 RCV002280861
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)	SNV Germline	Chr10:43113622	Pathogenic	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA007824	rs_77939446	20 SubmittersRCV000014958 RCV000082049 RCV000173889 RCV000168107 RCV000496009 RCV000562113 RCV000509116 RCV003460480 RCV004532352
NM_020975.6(RET):c.1860C>G (p.Cys620Trp)	SNV Germline	Chr10:43113656	Pathogenic	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008105	rs_79890926	4 SubmittersRCV000014959 RCV000021789 RCV000566125 RCV002272020
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)	SNV Germline	Chr10:43118458	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008702	rs_75030001	9 SubmittersRCV000014960 RCV000014961 RCV000182583 RCV000021849 RCV002453262
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	SNV Germline	Chr10:43118460	Conflicting classifications of pathogenicity	Familial medullary thyroid carcinoma Pheochromocytoma Condition: not provided Hereditary cancer-predisposing syndrome Aganglionic megacolon not specified Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial cancer of breast Multiple endocrine neoplasia, type 2 Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008726	rs_77724903	27 SubmittersRCV000014962 RCV000014963 RCV000034771 RCV000130367 RCV000148769 RCV000235206 RCV000312825 RCV000370653 RCV000400976 RCV000436831 RCV000431156 RCV000754613 RCV001083710 RCV005394159
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	SNV Germline	Chr10:43124887	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Condition: not provided not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Familial medullary thyroid carcinoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Aganglionic megacolon Multiple endocrine neoplasia, type 2 Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 1 Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA009143	rs_17158558	34 SubmittersRCV000014965 RCV000034774 RCV000082055 RCV000162949 RCV000202663 RCV000238890 RCV000354936 RCV000410308 RCV000320112 RCV000411820 RCV000736279 RCV001080524 RCV001269493 RCV001822995 RCV005394160
NM_020975.6(RET):c.1941C>T (p.Ile647=)	SNV Germline	Chr10:43114541	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 not specified	Criteria Provided Conflicting Classifications	CA008451	rs_75225191	10 SubmittersRCV000014966 RCV000220871 RCV000519499 RCV000988344 RCV001085461 RCV005434602
NM_020975.6(RET):c.1919C>G (p.Ala640Gly)	SNV Germline	Chr10:43114519	Pathogenic	Multiple endocrine neoplasia type 2A	No Assertion Criteria Provided	CA008417	rs_78935588	1 SubmittersRCV000014969
NM_020975.6(RET):c.1859G>C (p.Cys620Ser)	SNV Germline	Chr10:43113655	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome MEN2 phenotype: Unclassified Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA008085	rs_77503355	10 SubmittersRCV000014970 RCV000021802 RCV000489707 RCV001013426 RCV004782015 RCV004018626
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)	SNV Germline	Chr10:43113621	Pathogenic	Familial medullary thyroid carcinoma Condition: not provided Aganglionic megacolon Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA007804	rs_77558292	9 SubmittersRCV000014971 RCV000414355 RCV000736274 RCV001013275 RCV001851862 RCV004724742
NM_020975.6(RET):c.2410G>A (p.Val804Met)	SNV Germline	Chr10:43119548	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A 7 conditions MEN2 phenotype: Unclassified Familial medullary thyroid carcinoma Ovarian cancer Hirschsprung disease, susceptibility to, 1 RET-related disorder Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Inherited phaeochromocytoma and paraganglioma excluding NF1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008751	rs_79658334	50 SubmittersRCV000148773 RCV000182584 RCV000210181 RCV000499191 RCV000515232 RCV000586783 RCV001804750 RCV003153308 RCV003460494 RCV004528141 RCV004795938 RCV005865197 RCV006635423 RCV006697411
NM_020975.6(RET):c.2410G>T (p.Val804Leu)	SNV Germline	Chr10:43119548	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Condition: not provided Familial medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B	Criteria Provided Multiple Submitters No Conflicts	CA008766	rs_79658334	19 SubmittersRCV000014973 RCV000021854 RCV000354366 RCV000487450 RCV000596480 RCV000561258 RCV005394161 RCV006445467
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)	SNV Germline	Chr10:43126651	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Aganglionic megacolon Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA009200	rs_79853121	10 SubmittersRCV000014975 RCV000148783 RCV000410425 RCV000411688 RCV000563865 RCV000704911 RCV002490367 RCV003398513 RCV005089259
NM_020975.6(RET):c.1942G>A (p.Val648Ile)	SNV Germline	Chr10:43114542	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Condition: not provided Hereditary cancer-predisposing syndrome not specified Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA008459	rs_77711105	15 SubmittersRCV000014976 RCV000034767 RCV000163319 RCV000442648 RCV001082776
NM_020975.6(RET):c.1597G>T (p.Gly533Cys)	SNV Germline	Chr10:43112173	Pathogenic	Familial medullary thyroid carcinoma Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA007675	rs_75873440	8 SubmittersRCV000014977 RCV000182579 RCV000469127 RCV001012358 RCV003335040
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)	SNV Germline	Chr10:43120144	Pathogenic	Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Condition: not provided Hereditary cancer-predisposing syndrome MEN2 phenotype: Unclassified Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Medullary thyroid carcinoma Multiple endocrine neoplasia II Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008989	rs_75234356	27 SubmittersRCV000014978 RCV000014979 RCV000227193 RCV000425892 RCV000394478 RCV001016276 RCV001804732 RCV002490368 RCV003387503 RCV004566743 RCV004724743
NM_020975.6(RET):c.2332G>A (p.Val778Ile)	SNV Germline	Chr10:43118420	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia	Criteria Provided Conflicting Classifications	CA008677	rs_75686697	5 SubmittersRCV000014983 RCV000206045 RCV000562190 RCV001105833 RCV001108067 RCV001105834
NM_020975.6(RET):c.874G>A (p.Val292Met)	SNV Germline	Chr10:43106382	Conflicting classifications of pathogenicity	Condition: not provided not specified Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Hereditary cancer Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA009374	rs_34682185	18 SubmittersRCV000034779 RCV000121992 RCV000276548 RCV000333869 RCV000354891 RCV000367517 RCV000565970 RCV000755685 RCV001083006 RCV003492298 RCV005425702
NM_020975.6(RET):c.961G>A (p.Gly321Arg)	SNV Germline	Chr10:43106469	Conflicting classifications of pathogenicity	Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A not specified Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA009403	rs_377767388	13 SubmittersRCV000148776 RCV000231209 RCV000567555 RCV000679758 RCV000709104 RCV001818171 RCV003460487 RCV004528128
NM_020975.6(RET):c.1529C>T (p.Ala510Val)	SNV Germline	Chr10:43112105	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 RET-related disorder not specified	Criteria Provided Conflicting Classifications	CA007606	rs_201745826	11 SubmittersRCV000166168 RCV000679718 RCV000709114 RCV001083604 RCV004528129 RCV006273064
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)	SNV Germline	Chr10:43112107	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A not specified Hereditary cancer-predisposing syndrome Condition: not provided RET-related disorder	Criteria Provided Conflicting Classifications	CA007615	rs_201553718	18 SubmittersRCV000123299 RCV000148777 RCV000410289 RCV000411825 RCV000454639 RCV000561335 RCV001310920 RCV004532394
NM_020975.6(RET):c.1591T>C (p.Cys531Arg)	SNV Germline	Chr10:43112167	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA007653	rs_377767390	3 SubmittersRCV000021766 RCV002399332 RCV004700263
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)	SNV Germline	Chr10:43112173	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Condition: not provided Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA007667	rs_75873440	12 SubmittersRCV000411509 RCV000409959 RCV000465806 RCV000573056 RCV001102551 RCV001102550 RCV001107801 RCV001107802 RCV004791232 RCV005394170
NM_020975.6(RET):c.1817A>G (p.Tyr606Cys)	SNV Germline	Chr10:43113613	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA007781	rs_377767395	2 SubmittersRCV001013292 RCV003531905
NM_020975.6(RET):c.1825T>G (p.Cys609Gly)	SNV Germline	Chr10:43113621	Pathogenic	Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_77558292	2 SubmittersRCV004589374 RCV004950822
NM_020975.6(RET):c.1827C>G (p.Cys609Trp)	SNV Germline	Chr10:43113623	Pathogenic/Likely pathogenic	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007855	rs_377767396	3 SubmittersRCV003219010 RCV005101401 RCV006292350
NM_020975.6(RET):c.1831T>C (p.Cys611Arg)	SNV Germline	Chr10:43113627	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Aganglionic megacolon Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA007873	rs_377767391	6 SubmittersRCV000021782 RCV000736275 RCV004018655 RCV005415547 RCV005425703
NM_020975.6(RET):c.1831T>G (p.Cys611Gly)	SNV Germline	Chr10:43113627	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007883	rs_377767391	2 SubmittersRCV000506649
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)	SNV Germline	Chr10:43113628	Pathogenic	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome MEN2 phenotype: Unclassified Keratoconus 1 Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA007934	rs_377767397	15 SubmittersRCV000021784 RCV000412987 RCV000565237 RCV005237400 RCV006700153 RCV006735789
NM_020975.6(RET):c.1832G>T (p.Cys611Phe)	SNV Germline	Chr10:43113628	Pathogenic	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA007949	rs_377767397	4 SubmittersRCV000021787 RCV002408472 RCV003233027
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)	SNV Germline	Chr10:43113649	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA008005	rs_79781594	7 SubmittersRCV000163667 RCV000475953 RCV001565486 RCV005409607
NM_020975.6(RET):c.1853G>T (p.Cys618Phe)	SNV Germline	Chr10:43113649	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA008022	rs_79781594	5 SubmittersRCV000255102 RCV000548660 RCV000571381 RCV004018656
NM_020975.6(RET):c.1858T>G (p.Cys620Gly)	SNV Germline	Chr10:43113654	Pathogenic	not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Aganglionic megacolon Condition: not provided Multiple endocrine neoplasia, type 2 RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008066	rs_77316810	9 SubmittersRCV000507202 RCV000575015 RCV000709757 RCV000824755 RCV001703419 RCV002513160 RCV004724753
NM_020975.6(RET):c.1867G>A (p.Glu623Lys)	SNV Germline	Chr10:43113663	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008114	rs_377767402	8 SubmittersRCV000575097 RCV000988343 RCV001369787 RCV001762053 RCV005031447
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)	SNV Germline	Chr10:43114488	Pathogenic	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008145	rs_377767404	3 SubmittersRCV000654593 RCV004943733
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)	SNV Germline	Chr10:43114489	Pathogenic	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008154	rs_377767405	5 SubmittersRCV000021807 RCV002408473 RCV003315507 RCV004791233
NM_020975.6(RET):c.1889G>C (p.Cys630Ser)	SNV Germline	Chr10:43114489	Likely pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter		rs_377767405	1 SubmittersRCV005479231
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)	SNV Germline	Chr10:43114491	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 not specified Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA008190	rs_377767406	10 SubmittersRCV000519407 RCV000564566 RCV000696792 RCV001818172 RCV002477000 RCV003460488 RCV004786279
NM_020975.6(RET):c.1891G>T (p.Asp631Tyr)	SNV Germline	Chr10:43114491	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA008198	rs_377767406	4 SubmittersRCV000219970 RCV002513161 RCV004724754 RCV005420517
NM_020975.6(RET):c.1892A>T (p.Asp631Val)	SNV Germline	Chr10:43114492	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA008228	rs_121913308	2 SubmittersRCV001362386 RCV006649850
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)	SNV Germline	Chr10:43114494	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008256	rs_377767407	15 SubmittersRCV000411403 RCV000409907 RCV000526155 RCV000708754 RCV001811195 RCV005031448
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)	SNV Germline	Chr10:43114546	Conflicting classifications of pathogenicity	not specified Elevated basal serum calcitonin Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Appendicitis	Criteria Provided Conflicting Classifications	CA008470	rs_148935214	23 SubmittersRCV000121978 RCV000148770 RCV000163375 RCV000224141 RCV000663272 RCV001082257 RCV001104573 RCV001104575 RCV001104572 RCV001104574 RCV001533539
NM_020975.6(RET):c.1947G>A (p.Ser649=)	SNV Germline	Chr10:43114547	Pathogenic/Likely pathogenic	Condition: not provided Multiple endocrine neoplasia, type 2 6 conditions Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008487	rs_377767412	6 SubmittersRCV000498649 RCV000821103 RCV000762808 RCV001353180 RCV002408474
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	SNV Germline	Chr10:43114596	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA008502	rs_143795581	15 SubmittersRCV000021838 RCV000148771 RCV000567780 RCV001582493 RCV002496436 RCV002466411 RCV004018657
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	SNV Germline	Chr10:43114598	Pathogenic/Likely pathogenic	Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma RET-related disorder Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008525	rs_146646971	21 SubmittersRCV000082052 RCV000174156 RCV000467461 RCV000570730 RCV001027731 RCV001535750 RCV001818173 RCV002477001 RCV003335051 RCV003460489 RCV003458339
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)	SNV Germline	Chr10:43114671	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Malignant lymphoma, large B-cell, diffuse Prostate neoplasm Uterine carcinosarcoma	Criteria Provided Conflicting Classifications	CA008562	rs_1799939	26 SubmittersRCV000034769 RCV000039052 RCV000162947 RCV000290703 RCV000385080 RCV000340996 RCV000376859 RCV000660243 RCV001083339 RCV003315508 RCV005888634 RCV005628136 RCV005888635
NM_020975.6(RET):c.2342A>G (p.Gln781Arg)	SNV Germline	Chr10:43118430	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA008687	rs_377767416	6 SubmittersRCV000232536 RCV002444437 RCV002477002 RCV003321484 RCV003492299
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)	SNV Germline	Chr10:43118459	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome 6 conditions not specified Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008719	rs_377767417	11 SubmittersRCV000409436 RCV000411890 RCV000457504 RCV000566113 RCV000764900 RCV001818174 RCV003466868 RCV005042080
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)	SNV Germline	Chr10:43119590	Conflicting classifications of pathogenicity	Medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008797	rs_377767420	9 SubmittersRCV000148782 RCV000410539 RCV000411157 RCV000571277 RCV000799360 RCV002490401 RCV003460490
NM_020975.6(RET):c.2497C>T (p.Arg833Cys)	SNV Germline	Chr10:43119635	Conflicting classifications of pathogenicity	Condition: not provided 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 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008813	rs_377767422	9 SubmittersRCV000478761 RCV000529442 RCV000567481 RCV000662806 RCV004566753 RCV005031449
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)	SNV Germline	Chr10:43119660	Conflicting classifications of pathogenicity	Aganglionic megacolon Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 not specified Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008837	rs_149891333	12 SubmittersRCV000148778 RCV000575365 RCV000691895 RCV000662511 RCV000782197 RCV001535741 RCV001818175 RCV002477003
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)	SNV Germline	Chr10:43119669	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided Hirschsprung disease, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA008877	rs_55947360	13 SubmittersRCV000205855 RCV000575953 RCV000662363 RCV001292765 RCV001574570 RCV003466869 RCV006700678
NM_020975.6(RET):c.2556C>G (p.Ile852Met)	SNV Germline	Chr10:43119694	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Condition: not provided not specified Hirschsprung disease, susceptibility to, 1 RET-related disorder Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008919	rs_377767426	20 SubmittersRCV000204335 RCV000566408 RCV000662415 RCV000755693 RCV001354419 RCV001818176 RCV003466870 RCV004532395 RCV005031450
NM_020975.6(RET):c.2656C>T (p.Arg886Trp)	SNV Germline/somatic	Chr10:43120129	Conflicting classifications of pathogenicity	Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Condition: not provided Renal hypoplasia/aplasia Hereditary cancer-predisposing syndrome Hereditary cancer Medulloblastoma non-WNT/non-SHH	Criteria Provided Conflicting Classifications	CA008982	rs_146838520	9 SubmittersRCV000148785 RCV000654561 RCV000679734 RCV001281276 RCV002453266 RCV005600620 RCV006253679
NM_020975.6(RET):c.2711C>T (p.Ser904Phe)	SNV Germline	Chr10:43120184	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009027	rs_267607011	3 SubmittersRCV000757722 RCV001267835 RCV005268549
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr)	SNV Germline	Chr10:43121980	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA009087	rs_377767432	3 SubmittersRCV000988348 RCV002433465 RCV003764617
NM_020975.6(RET):c.1897C>G (p.Leu633Val)	SNV Germline	Chr10:43114497	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA008295	rs_267607010	7 SubmittersRCV000196130 RCV000410079 RCV000411153 RCV002478712 RCV002503784 RCV003165476
NM_020975.6(RET):c.166C>A (p.Leu56Met)	SNV Germline	Chr10:43100551	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Condition: not provided not specified Aganglionic megacolon Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Pheochromocytoma Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA007702	rs_145633958	30 SubmittersRCV000030402 RCV000034766 RCV000121985 RCV000148768 RCV000163266 RCV000202649 RCV001108850 RCV001082759 RCV001108849 RCV001108851 RCV005394176
NM_020975.6(RET):c.1880-2A>G	SNV Germline	Chr10:43114478	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA008131	rs_193922699	1 SubmittersRCV000030404
NM_020975.6(RET):c.2080C>T (p.Arg694Trp)	SNV Germline	Chr10:43114680	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified RET-related disorder	Criteria Provided Conflicting Classifications	CA008572	rs_193922700	9 SubmittersRCV000030406 RCV000698016 RCV000708755 RCV000770758 RCV004528140
NM_020975.6(RET):c.1826G>T (p.Cys609Phe)	SNV Germline	Chr10:43113622	Pathogenic	not specified Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007843	rs_77939446	4 SubmittersRCV000506587 RCV000533887 RCV002408486 RCV005243105
NM_020975.6(RET):c.1013C>T (p.Thr338Ile)	SNV Germline	Chr10:43106521	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Condition: not provided Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA007399	rs_377767433	10 SubmittersRCV000570795 RCV000709106 RCV001046577 RCV001262456 RCV004566792 RCV004700294 RCV005042101
NM_020975.6(RET):c.1826G>C (p.Cys609Ser)	SNV Germline	Chr10:43113622	Pathogenic	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA007834	rs_77939446	4 SubmittersRCV001908064 RCV002258320 RCV003316853
NM_020975.6(RET):c.1831T>A (p.Cys611Ser)	SNV Germline	Chr10:43113627	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2	Criteria Provided Multiple Submitters No Conflicts	CA007864	rs_377767391	3 SubmittersRCV002412658 RCV003481306 RCV003533237
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)	SNV Germline	Chr10:43113648	Pathogenic	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A RET-related disorder Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA007974	rs_76262710	9 SubmittersRCV000032040 RCV000182594 RCV000569893 RCV003233028 RCV004532475 RCV004820824
NM_020975.6(RET):c.1858T>A (p.Cys620Ser)	SNV Germline	Chr10:43113654	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008047	rs_77316810	4 SubmittersRCV000021798 RCV002408487
NM_020975.6(RET):c.1900T>A (p.Cys634Ser)	SNV Germline	Chr10:43114500	Pathogenic	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008307	rs_75076352	4 SubmittersRCV000021820 RCV002408488 RCV006698006
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)	SNV Germline	Chr10:43118392	Pathogenic	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A MEN2 phenotype: Unclassified Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008648	rs_78014899	6 SubmittersRCV000032037 RCV000410061 RCV000411546 RCV002307370 RCV002426530 RCV004998127
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)	SNV Germline	Chr10:43118458	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A 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	Criteria Provided Multiple Submitters No Conflicts	CA008709	rs_75030001	28 SubmittersRCV000163610 RCV000339507 RCV000539138 RCV000709758 RCV000984325 RCV003466882 RCV003483444 RCV006605201
NM_020975.6(RET):c.2410G>C (p.Val804Leu)	SNV Germline	Chr10:43119548	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Condition: not provided Hereditary cancer-predisposing syndrome MEN2 phenotype: Unclassified	Criteria Provided Multiple Submitters No Conflicts	CA008758	rs_79658334	11 SubmittersRCV000021853 RCV000426266 RCV000479688 RCV002453279 RCV003226171
NM_020975.6(RET):c.2752A>G (p.Met918Val)	SNV Germline	Chr10:43121967	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009073	rs_377767442	11 SubmittersRCV000032039 RCV002433481 RCV003315527 RCV003318546
NM_020975.6(RET):c.2611G>A (p.Val871Ile)	SNV Germline	Chr10:43120084	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome 6 conditions Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma not specified	Criteria Provided Conflicting Classifications	CA008940	rs_145170911	15 SubmittersRCV000034773 RCV000123312 RCV000410572 RCV000409480 RCV000562304 RCV000763649 RCV002477060 RCV003387739
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)	SNV Germline	Chr10:43124925	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA009156	rs_199718928	11 SubmittersRCV000034775 RCV000411986 RCV000409131 RCV000458385 RCV000568654 RCV001104858 RCV001104857 RCV001104859 RCV001104860 RCV002477061
NM_020975.6(RET):c.785T>C (p.Val262Ala)	SNV Germline	Chr10:43105111	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Aganglionic megacolon not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Malignant tumor of breast RET-related disorder	Criteria Provided Conflicting Classifications	CA009350	rs_139790943	20 SubmittersRCV000034777 RCV000123327 RCV000148775 RCV000223157 RCV000573525 RCV000663296 RCV001103898 RCV001104177 RCV001103896 RCV001103897 RCV001269367 RCV004528165
NM_020975.6(RET):c.3057G>A (p.Ala1019=)	SNV Germline	Chr10:43126592	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome not specified RET-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA009183	rs_369579749	10 SubmittersRCV000119177 RCV000410440 RCV000411953 RCV000574003 RCV000613685 RCV004542866 RCV004567032
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)	SNV Germline	Chr10:43112906	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA007718	rs_140464432	10 SubmittersRCV000119225 RCV000355156 RCV000564831 RCV000662493 RCV002477302
NM_020975.6(RET):c.2261C>T (p.Thr754Met)	SNV Germline	Chr10:43116708	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA008622	rs_181856591	13 SubmittersRCV000121979 RCV000202914 RCV000410377 RCV000411486 RCV000462996 RCV000573705 RCV002492438 RCV003151746 RCV003460858 RCV004771463
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)	SNV Germline	Chr10:43118436	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 RET-related disorder Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA008694	rs_587778656	13 SubmittersRCV000121980 RCV000412123 RCV000410090 RCV000540063 RCV000561957 RCV000724767 RCV003460859 RCV004530033 RCV005031629
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)	SNV Germline	Chr10:43126720	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA009211	rs_587778659	11 SubmittersRCV000121983 RCV000409698 RCV000412388 RCV000532140 RCV001577914 RCV002321601 RCV003460860 RCV005049424
NM_020975.6(RET):c.304G>A (p.Asp102Asn)	SNV Germline	Chr10:43100689	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma RET-related disorder	Criteria Provided Conflicting Classifications	CA009176	rs_201244749	6 SubmittersRCV000121987 RCV000554385 RCV000567241 RCV002483229 RCV004528836
NM_020975.6(RET):c.488G>A (p.Arg163Gln)	SNV Germline	Chr10:43102492	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009263	rs_149403911	6 SubmittersRCV000121989 RCV000795345 RCV002483230 RCV002336267
NM_020975.6(RET):c.1157C>T (p.Ala386Val)	SNV Germline	Chr10:43109124	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2 RET-related disorder	Criteria Provided Conflicting Classifications	CA007451	rs_115272158	11 SubmittersRCV000121993 RCV000163314 RCV000726085 RCV001079718 RCV004542915
NM_020975.6(RET):c.1424G>A (p.Arg475Gln)	SNV Germline	Chr10:43111367	Conflicting classifications of pathogenicity	not specified Aganglionic megacolon Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA007571	rs_138624658	9 SubmittersRCV000121995 RCV000148779 RCV000470554 RCV001011481 RCV005031630 RCV004567054 RCV004589591
NM_020975.6(RET):c.1438G>A (p.Glu480Lys)	SNV Germline	Chr10:43111381	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA007585	rs_537874538	9 SubmittersRCV000121996 RCV000409013 RCV000461515 RCV000410596 RCV000570658 RCV000758696 RCV001650985
NM_020975.6(RET):c.1573C>T (p.Arg525Trp)	SNV Germline	Chr10:43112149	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma RET-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA007640	rs_545625150	8 SubmittersRCV000121998 RCV000166496 RCV000476004 RCV002492439 RCV004528837 RCV004719703
NM_020975.6(RET):c.1095G>A (p.Ser365=)	SNV Germline	Chr10:43109062	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Melanoma	Criteria Provided Conflicting Classifications	CA007433	rs_201992974	7 SubmittersRCV000123289 RCV000410870 RCV000412429 RCV000570175 RCV006270347 RCV005890501
NM_020975.6(RET):c.1158G>A (p.Ala386=)	SNV Germline	Chr10:43109125	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Renal hypodysplasia/aplasia 1	Criteria Provided Conflicting Classifications	CA007461	rs_373540097	10 SubmittersRCV000123291 RCV000162962 RCV000610981 RCV000988342 RCV001082022 RCV001104295 RCV001104294 RCV001104296 RCV001107047
NM_020975.6(RET):c.1344C>G (p.Asn448Lys)	SNV Germline	Chr10:43111287	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pilocytic astrocytoma Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA007539	rs_549907428	11 SubmittersRCV000123295 RCV000572664 RCV000761174 RCV002466439 RCV002483237 RCV003460874 RCV004530053
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)	SNV Germline	Chr10:43112218	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma RET-related disorder Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA007695	rs_374461212	12 SubmittersRCV000123300 RCV000662401 RCV001012544 RCV001762280 RCV002483238 RCV004542930 RCV004567066
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)	SNV Germline	Chr10:43112903	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A RET-related disorder	Criteria Provided Conflicting Classifications	CA007711	rs_147219360	17 SubmittersRCV000163453 RCV000455280 RCV000727068 RCV001081705 RCV001104479 RCV001104478 RCV001107242 RCV001107243 RCV002272134 RCV003153409 RCV004542931
NM_020975.6(RET):c.1920C>T (p.Ala640=)	SNV Germline	Chr10:43114520	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Pheochromocytoma Hirschsprung disease, susceptibility to, 1 RET-related disorder Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA008434	rs_149768519	8 SubmittersRCV000123303 RCV000562785 RCV001102661 RCV001102662 RCV001104571 RCV001104570 RCV004530055 RCV005394456 RCV005425732
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)	SNV Germline	Chr10:43116613	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided Hirschsprung disease, susceptibility to, 1 Hereditary cancer	Criteria Provided Conflicting Classifications	CA008592	rs_527726480	8 SubmittersRCV000123307 RCV000562548 RCV002483239 RCV003159099 RCV003467095 RCV003492551
NM_020975.6(RET):c.2199C>T (p.Gly733=)	SNV Germline	Chr10:43116646	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA008595	rs_587780809	5 SubmittersRCV000123308 RCV001014747 RCV005042239
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)	SNV Germline	Chr10:43126647	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Ewing sarcoma of soft tissue Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia not specified RET-related disorder	Criteria Provided Conflicting Classifications	CA009187	rs_201740483	20 SubmittersRCV000163463 RCV000663277 RCV000761007 RCV000679744 RCV001108238 RCV001083486 RCV001106025 RCV001106024 RCV001108239 RCV001818296 RCV004528841
NM_020975.6(RET):c.3243T>C (p.Asp1081=)	SNV Germline	Chr10:43128167	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia not specified	Criteria Provided Conflicting Classifications	CA010921	rs_144192900	6 SubmittersRCV000123320 RCV000412402 RCV000410847 RCV000570968 RCV001103047 RCV001103048 RCV001108244 RCV001108245 RCV005237562
NM_020975.6(RET):c.3326T>C (p.Met1109Thr)	SNV Germline	Chr10:43128250	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA010962	rs_587780813	8 SubmittersRCV000123321 RCV000573076 RCV000679747 RCV003460875
NM_020975.6(RET):c.335G>A (p.Arg112His)	SNV Germline	Chr10:43100720	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA009221	rs_587780814	7 SubmittersRCV000123322 RCV000409019 RCV000411433 RCV000563716 RCV001310569 RCV005042241
NM_020975.6(RET):c.597C>T (p.Asn199=)	SNV Germline	Chr10:43102601	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Pheochromocytoma Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA009297	rs_55810667	6 SubmittersRCV000123323 RCV000292445 RCV000349967 RCV000291430 RCV000383508 RCV000565107 RCV000611182 RCV003415926
NM_020975.6(RET):c.667G>A (p.Val223Met)	SNV Germline	Chr10:43104993	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome See cases Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA009308	rs_587780815	8 SubmittersRCV000123324 RCV000411929 RCV000409553 RCV001025526 RCV002251993 RCV005042242
NM_020975.6(RET):c.757G>A (p.Val253Met)	SNV Germline	Chr10:43105083	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA009343	rs_587780816	5 SubmittersRCV000123326 RCV001026582 RCV003467096
NM_020975.6(RET):c.405C>T (p.Gly135=)	SNV Germline	Chr10:43102409	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer RET-related disorder	Criteria Provided Conflicting Classifications	CA009250	rs_142345108	7 SubmittersRCV000130281 RCV000467605 RCV001565613 RCV003492597 RCV004532556
NM_020975.6(RET):c.2498G>A (p.Arg833His)	SNV Germline	Chr10:43119636	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008821	rs_587782636	5 SubmittersRCV000132029 RCV000474700 RCV003462028
NM_020975.6(RET):c.539G>A (p.Arg180Gln)	SNV Germline	Chr10:43102543	Conflicting classifications of pathogenicity	Aganglionic megacolon Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Condition: not provided RET-related disorder not specified	Criteria Provided Conflicting Classifications	CA009280	rs_370736139	12 SubmittersRCV000148786 RCV000197537 RCV000412078 RCV000410075 RCV001024031 RCV001294034 RCV003736605 RCV004739476 RCV005237584
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)	SNV Germline	Chr10:43114681	Conflicting classifications of pathogenicity	Aganglionic megacolon Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A RET-related disorder	Criteria Provided Conflicting Classifications	CA008578	rs_141185224	15 SubmittersRCV000148781 RCV000411751 RCV000409290 RCV000462012 RCV000455880 RCV000562835 RCV000766923 RCV001102744 RCV001102745 RCV001102746 RCV001102743 RCV005042290 RCV004532668
NM_020975.6(RET):c.225G>A (p.Thr75=)	SNV Germline	Chr10:43100610	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B not specified Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia	Criteria Provided Conflicting Classifications	CA008616	rs_151267865	8 SubmittersRCV000163611 RCV000200674 RCV000409943 RCV000412352 RCV000606849 RCV001103697 RCV001105644 RCV001105642 RCV001105643
NM_020975.6(RET):c.957C>A (p.Leu319=)	SNV Germline	Chr10:43106465	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Condition: not provided Multiple endocrine neoplasia, type 2 not specified Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA009391	rs_149926238	11 SubmittersRCV000163298 RCV000275161 RCV000288125 RCV000327857 RCV000384830 RCV000679757 RCV001084417 RCV001818363 RCV005425752
NM_020975.6(RET):c.1051G>A (p.Val351Ile)	SNV Germline	Chr10:43106559	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA007417	rs_777716061	4 SubmittersRCV000167232 RCV000553159 RCV002485039
NM_020975.6(RET):c.1352C>T (p.Thr451Met)	SNV Germline	Chr10:43111295	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 not specified Hirschsprung disease, susceptibility to, 1 Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Criteria Provided Conflicting Classifications	CA007541	rs_774092678	7 SubmittersRCV000167414 RCV000654555 RCV003226229 RCV004567348 RCV006439686
NM_020975.6(RET):c.2225C>T (p.Thr742Met)	SNV Germline	Chr10:43116672	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 6 conditions Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA008602	rs_773256580	8 SubmittersRCV000167451 RCV000409277 RCV000409934 RCV000654567 RCV000764899 RCV004567352 RCV004786479
NM_020975.6(RET):c.2523G>T (p.Pro841=)	SNV Germline	Chr10:43119661	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2 Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 not specified Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA008853	rs_56195026	12 SubmittersRCV000163299 RCV000679732 RCV001080805 RCV001104779 RCV001105910 RCV001104780 RCV001105909 RCV001818364 RCV005425753
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)	SNV Germline	Chr10:43128177	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA010930	rs_756465544	12 SubmittersRCV000162457 RCV000168316 RCV000304884 RCV000339922 RCV000401667 RCV000409584 RCV000343184 RCV000411142 RCV002460938
NM_020975.6(RET):c.972G>C (p.Trp324Cys)	SNV Germline	Chr10:43106480	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009409	rs_758298916	9 SubmittersRCV000167906 RCV000409785 RCV000410975 RCV000994377 RCV001107611 RCV001107613 RCV001107612 RCV001107614 RCV002381533
NM_020975.6(RET):c.2454G>A (p.Glu818=)	SNV Germline	Chr10:43119592	Conflicting classifications of pathogenicity	Condition: not provided 6 conditions Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA008802	rs_794727131	6 SubmittersRCV000174792 RCV000764901 RCV001437744 RCV002255313 RCV005425786
NM_020975.6(RET):c.2837C>T (p.Thr946Ile)	SNV Germline	Chr10:43123706	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA009107	rs_794728687	1 SubmittersRCV000182588
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)	SNV Germline	Chr10:43128238	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA010953	rs_532862288	11 SubmittersRCV000456051 RCV000463602 RCV000662469 RCV001019923 RCV002478618 RCV003462290
NM_020975.6(RET):c.308A>G (p.His103Arg)	SNV Germline	Chr10:43100693	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA042516	rs_375390467	5 SubmittersRCV000196485 RCV000409523 RCV000411052 RCV002321798 RCV005042428
NM_020975.6(RET):c.334C>T (p.Arg112Cys)	SNV Germline	Chr10:43100719	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Renal hypodysplasia/aplasia 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Congenital anomaly of kidney and urinary tract Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA043169	rs_762626209	10 SubmittersRCV000200291 RCV000283887 RCV000374792 RCV000322527 RCV000380664 RCV000572326 RCV000663300 RCV002470810 RCV004998414 RCV006263752
NM_020975.6(RET):c.406G>A (p.Glu136Lys)	SNV Germline	Chr10:43102410	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified Multiple endocrine neoplasia type 2A Condition: not provided Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Ovarian cancer Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA043648	rs_79014735	13 SubmittersRCV000197380 RCV000571944 RCV000678743 RCV000662413 RCV000679750 RCV002503785 RCV003153474 RCV003462339 RCV004739588
NM_020975.6(RET):c.431G>A (p.Arg144His)	SNV Germline	Chr10:43102435	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA043667	rs_551142665	7 SubmittersRCV000200522 RCV000565710 RCV000662542 RCV001294032 RCV002500624 RCV004772862
NM_020975.6(RET):c.977A>G (p.Gln326Arg)	SNV Germline	Chr10:43106485	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA338671	rs_863224778	9 SubmittersRCV000199477 RCV000574518 RCV000662571 RCV002284372 RCV002485323 RCV003462340
NM_020975.6(RET):c.1150C>G (p.Pro384Ala)	SNV Germline	Chr10:43109117	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA031869	rs_536298339	6 SubmittersRCV000197885 RCV000410243 RCV000412082 RCV000567892 RCV005055722
NM_020975.6(RET):c.1890C>T (p.Cys630=)	SNV Germline	Chr10:43114490	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Multiple endocrine neoplasia Pheochromocytoma Hereditary cancer-predisposing syndrome Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Condition: not provided RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA036313	rs_781145070	10 SubmittersRCV000197302 RCV000506065 RCV001102657 RCV001102659 RCV001013471 RCV001102658 RCV001102660 RCV002225500 RCV004739584 RCV005425798
NM_020975.6(RET):c.2601G>T (p.Glu867Asp)	SNV Germline	Chr10:43119739	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA039848	rs_141459368	8 SubmittersRCV000197994 RCV001016073 RCV003225040 RCV003987446 RCV004530196 RCV004791321
NM_020975.6(RET):c.2607+4C>T	SNV Germline	Chr10:43119749	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided RET-related disorder Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA040001	rs_200634990	9 SubmittersRCV000199849 RCV000409038 RCV000410597 RCV001016043 RCV003477672 RCV004530197 RCV005031750
NM_020975.6(RET):c.2776C>G (p.His926Asp)	SNV Germline	Chr10:43121991	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA040885	rs_774215008	6 SubmittersRCV000196286 RCV002433890 RCV002478713 RCV003441780 RCV004791322
NM_020975.6(RET):c.2939+6C>T	SNV Germline	Chr10:43123814	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 2 not specified	Criteria Provided Conflicting Classifications	CA041663	rs_181245759	8 SubmittersRCV000663279 RCV000679739 RCV001087395 RCV006259177
NM_020975.6(RET):c.2988G>A (p.Pro996=)	SNV Germline	Chr10:43124931	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Appendicitis Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA041871	rs_145798106	11 SubmittersRCV000199267 RCV000253581 RCV000288556 RCV000345815 RCV000291942 RCV000395274 RCV000569522 RCV000662488 RCV001289998 RCV003326372 RCV005396608
NM_020975.6(RET):c.517T>C (p.Ser173Pro)	SNV Germline	Chr10:43102521	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA348499	rs_864622361	5 SubmittersRCV000204256 RCV002485343 RCV002336561
NM_020975.6(RET):c.682G>C (p.Ala228Pro)	SNV Germline	Chr10:43105008	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Condition: not provided RET-related disorder Inherited phaeochromocytoma and paraganglioma excluding NF1	Criteria Provided Conflicting Classifications	CA044503	rs_760813493	9 SubmittersRCV000206221 RCV000571565 RCV002494530 RCV003148679 RCV004541291 RCV006649979
NM_020975.6(RET):c.832A>G (p.Thr278Ala)	SNV Germline	Chr10:43105158	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA045050	rs_541929171	8 SubmittersRCV000205998 RCV000662513 RCV001017556 RCV002485347 RCV005420760
NM_020975.6(RET):c.1052T>A (p.Val351Glu)	SNV Germline	Chr10:43106560	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Ovarian cancer Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA030932	rs_749449032	5 SubmittersRCV000205293 RCV002399761 RCV003153481 RCV003462370 RCV004791326
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)	SNV Germline	Chr10:43109091	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2 not specified Congenital central hypoventilation RET-related disorder	Criteria Provided Conflicting Classifications	CA031689	rs_142338976	13 SubmittersRCV000564599 RCV000591528 RCV001083800 RCV001532950 RCV001294030 RCV004530231
NM_020975.6(RET):c.1253G>A (p.Arg418Gln)	SNV Germline	Chr10:43109220	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA032301	rs_371731991	5 SubmittersRCV000206643 RCV000561732 RCV002285278 RCV002494521 RCV004567456
NM_020975.6(RET):c.1264-5C>G	SNV Germline	Chr10:43111202	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA349307	rs_9282835	3 SubmittersRCV001493874 RCV003468947 RCV004943773
NM_020975.6(RET):c.1678C>T (p.Pro560Ser)	SNV Germline	Chr10:43112882	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hereditary cancer Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA035017	rs_748852160	6 SubmittersRCV000204252 RCV002399762 RCV003491956 RCV004567465 RCV005230078
NM_020975.6(RET):c.2284+54C>A	SNV Germline	Chr10:43116785	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Condition: not provided Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA349855	rs_566375223	7 SubmittersRCV000205741 RCV000597255 RCV000727042 RCV000663014 RCV002256118
NM_020975.6(RET):c.2298G>A (p.Pro766=)	SNV Germline	Chr10:43118386	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Condition: not provided RET-related disorder Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Criteria Provided Conflicting Classifications	CA038450	rs_140658743	12 SubmittersRCV000205891 RCV000410239 RCV000412216 RCV001015052 RCV002225506 RCV004739599 RCV006605250
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)	SNV Germline	Chr10:43119615	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided Hereditary cancer-predisposing syndrome not specified Hirschsprung disease, susceptibility to, 1 RET-related disorder Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA039378	rs_34617196	11 SubmittersRCV000205464 RCV000411008 RCV000412172 RCV000679731 RCV001015653 RCV003320137 RCV003462382 RCV004739598 RCV005031777
NM_020975.6(RET):c.2544G>A (p.Met848Ile)	SNV Germline	Chr10:43119682	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA039702	rs_772684105	4 SubmittersRCV000205988 RCV001015870 RCV004567470
NM_020975.6(RET):c.1201A>T (p.Ser401Cys)	SNV Germline	Chr10:43109168	Conflicting classifications of pathogenicity	Congenital anomaly of kidney and urinary tract Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA032120	rs_140638866	8 SubmittersRCV000416603 RCV000560396 RCV001010283 RCV003468970 RCV004721300
NM_020975.6(RET):c.-2C>A	SNV Germline	Chr10:43077257	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma RET-related disorder Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA10576788	rs_876657980	7 SubmittersRCV000221356 RCV000572702 RCV001580474 RCV002503860 RCV004532763 RCV006547832
NM_020975.6(RET):c.544C>T (p.Pro182Ser)	SNV Germline	Chr10:43102548	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA043927	rs_775086466	3 SubmittersRCV000216372 RCV000555816
NM_020975.6(RET):c.1445A>G (p.His482Arg)	SNV Germline	Chr10:43111388	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA10578863	rs_876659821	2 SubmittersRCV000221247 RCV001853590
NM_020975.6(RET):c.1649-5T>C	SNV Germline	Chr10:43112848	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA10578865	rs_876658485	3 SubmittersRCV000222946 RCV000533098
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	SNV Germline	Chr10:43114598	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A RET-related disorder MEN2 phenotype: Unclassified Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA036775	rs_146646971	17 SubmittersRCV000219014 RCV000556223 RCV001589145 RCV002463360 RCV002265692 RCV003462451 RCV003137821 RCV004532784 RCV004767168 RCV005044446 RCV006259236
NM_020975.6(RET):c.2461A>G (p.Lys821Glu)	SNV Germline	Chr10:43119599	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA039364	rs_749421642	5 SubmittersRCV000220695 RCV000692117 RCV004998445
NM_020975.6(RET):c.2485A>G (p.Ser829Gly)	SNV Germline	Chr10:43119623	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA039406	rs_113005278	6 SubmittersRCV000220486 RCV000560108 RCV004567591 RCV005044450 RCV006259266
NM_020975.6(RET):c.2492G>T (p.Gly831Val)	SNV Germline	Chr10:43119630	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA039442	rs_760924186	5 SubmittersRCV000220151 RCV001225645 RCV004791341 RCV006259263
NM_020975.6(RET):c.139G>A (p.Gly47Ser)	SNV Germline	Chr10:43100524	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA033463	rs_529018971	4 SubmittersRCV000230397 RCV000662387 RCV001820759 RCV002392716
NM_020975.6(RET):c.296G>A (p.Arg99Gln)	SNV Germline	Chr10:43100681	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA041821	rs_749500174	4 SubmittersRCV000230694 RCV001017730 RCV004999160
NM_020975.6(RET):c.1063+9G>A	SNV Germline	Chr10:43106580	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B not specified Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Condition: not provided Hereditary cancer-predisposing syndrome RET-related disorder Neoplasm of the endocrine system	Criteria Provided Conflicting Classifications	CA031087	rs_765463636	16 SubmittersRCV000232595 RCV000409561 RCV000412024 RCV000454826 RCV001103996 RCV001103997 RCV001103998 RCV001103999 RCV001567894 RCV002256169 RCV004532955 RCV006648391
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)	SNV Germline	Chr10:43111405	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Pheochromocytoma Condition: not provided not specified Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA033750	rs_753733901	9 SubmittersRCV000234316 RCV000709111 RCV001011698 RCV001107800 RCV001107140 RCV001107138 RCV001107139 RCV001770206 RCV004596143 RCV005396817
NM_020975.6(RET):c.1522+35C>T	SNV Germline	Chr10:43111500	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A not specified Condition: not provided Hereditary cancer-predisposing syndrome RET-related disorder	Criteria Provided Conflicting Classifications	CA034104	rs_377130948	9 SubmittersRCV000227098 RCV000410817 RCV000412335 RCV000456055 RCV001172033 RCV002257596 RCV004541451
NM_020975.6(RET):c.1538C>T (p.Ala513Val)	SNV Germline	Chr10:43112114	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA10582720	rs_149238501	7 SubmittersRCV000230991 RCV000662955 RCV001012091 RCV005255579 RCV005044480
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)	SNV Germline	Chr10:43114515	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Condition: not provided Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA036557	rs_777122776	9 SubmittersRCV000226795 RCV000410332 RCV000409197 RCV000679725 RCV001013684 RCV003469160
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)	SNV Germline	Chr10:43114521	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA036607	rs_377767411	10 SubmittersRCV000229577 RCV000662388 RCV001292757 RCV002487084 RCV002411060 RCV002508206 RCV003463677
NM_020975.6(RET):c.2052G>A (p.Pro684=)	SNV Germline	Chr10:43114652	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA037105	rs_145122337	13 SubmittersRCV000273369 RCV000263785 RCV000300341 RCV000369018 RCV000566200 RCV000616095 RCV000679726 RCV001082755 RCV005425897
NM_020975.6(RET):c.2538C>T (p.Leu846=)	SNV Germline	Chr10:43119676	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 not specified Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA039670	rs_201816539	8 SubmittersRCV000227054 RCV000565745 RCV001105912 RCV001105913 RCV001105914 RCV001105911 RCV002469084 RCV005425901
NM_020975.6(RET):c.2607+3G>A	SNV Germline	Chr10:43119748	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA039948	rs_752538741	6 SubmittersRCV000232760 RCV002429132 RCV004541452 RCV005425902
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn)	SNV Germline	Chr10:43124948	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Criteria Provided Conflicting Classifications	CA041961	rs_763489828	8 SubmittersRCV000234755 RCV000992303 RCV001018013 RCV002500811 RCV003463678 RCV006277763
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile)	SNV Germline	Chr10:43126648	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA042623	rs_200021472	9 SubmittersRCV000228519 RCV000567853 RCV001589196 RCV001820760 RCV002500812 RCV004567757
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)	SNV Germline	Chr10:43126684	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Hereditary cancer Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA042811	rs_200956659	13 SubmittersRCV000225774 RCV000563947 RCV000679746 RCV001196701 RCV003463679 RCV003492013 RCV005044481 RCV005055783
NM_020975.6(RET):c.3201G>A (p.Pro1067=)	SNV Germline	Chr10:43128125	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10582726	rs_878855062	3 SubmittersRCV001446501 RCV002321885
NM_020975.6(RET):c.276C>T (p.Thr92=)	SNV Germline	Chr10:43100661	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10604721	rs_886042820	4 SubmittersRCV000279485 RCV001460357 RCV002436103
NM_020975.6(RET):c.1119G>A (p.Ala373=)	SNV Germline	Chr10:43109086	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA031672	rs_113931414	12 SubmittersRCV000282321 RCV000566877 RCV000679710 RCV001084015 RCV001104290 RCV001104291 RCV001104292 RCV001104293 RCV003316464
NM_020975.6(RET):c.2418C>G (p.Tyr806Ter)	SNV Germline	Chr10:43119556	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10606962	rs_553418132	1 SubmittersRCV000314983
NM_020975.6(RET):c.-132G>T	SNV Germline	Chr10:43077127	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10628534	rs_886046985	2 SubmittersRCV000298833 RCV000336868 RCV000369892 RCV000393831 RCV002256191
NM_020975.6(RET):c.*84G>A	SNV Germline	Chr10:43128353	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA10628547	rs_558718557	1 SubmittersRCV000263605 RCV000298834 RCV000356032 RCV000408384
NM_020975.6(RET):c.*1130A>G	SNV Germline	Chr10:43129399	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA10628579	rs_572936041	2 SubmittersRCV000290403 RCV000339613 RCV000345577 RCV000384769 RCV003311742
NM_020975.6(RET):c.432C>T (p.Arg144=)	SNV Germline	Chr10:43102436	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Pheochromocytoma Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA043682	rs_756999107	6 SubmittersRCV000265740 RCV000305840 RCV000318616 RCV000358174 RCV000537322 RCV000571664 RCV005256590 RCV005434787
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)	SNV Germline	Chr10:43112194	Conflicting classifications of pathogenicity	Pheochromocytoma Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Microcephaly Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Ovarian cancer Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA034653	rs_543376293	11 SubmittersRCV000260802 RCV000263988 RCV000305137 RCV000359923 RCV000573672 RCV000697839 RCV001252827 RCV002480091 RCV003153554 RCV004791397 RCV006259372
NM_020975.6(RET):c.*1644G>C	SNV Germline	Chr10:43129913	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia	Criteria Provided Conflicting Classifications	CA10631689	rs_117119161	2 SubmittersRCV000276517 RCV000331623 RCV000356657 RCV000370937
NM_020975.6(RET):c.1162G>A (p.Val388Ile)	SNV Germline	Chr10:43109129	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA031971	rs_776223166	7 SubmittersRCV000312196 RCV000313283 RCV000370252 RCV000393718 RCV000654549 RCV002321978 RCV003480586
NM_020975.6(RET):c.1879+14G>A	SNV Germline	Chr10:43113689	Conflicting classifications of pathogenicity	Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA035963	rs_532810255	3 SubmittersRCV000295350 RCV000345576 RCV000381315 RCV000389662 RCV000662734 RCV001850584
NM_020975.6(RET):c.2070C>T (p.Ser690=)	SNV Germline	Chr10:43114670	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Pheochromocytoma Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA037190	rs_201550433	6 SubmittersRCV000270886 RCV000325905 RCV000333157 RCV000387715 RCV000542961 RCV000662709 RCV000574739
NM_020975.6(RET):c.220G>A (p.Gly74Ser)	SNV Germline	Chr10:43100605	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Ovarian cancer Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA037807	rs_764938319	7 SubmittersRCV000270926 RCV000323687 RCV000329067 RCV000363157 RCV000551141 RCV001014798 RCV003153553 RCV005033870
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)	SNV Germline	Chr10:43111363	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA033490	rs_775842917	8 SubmittersRCV001239526 RCV001840481 RCV002392835 RCV003469251 RCV004529483
NM_020975.6(RET):c.*1348G>A	SNV Germline	Chr10:43129617	Conflicting classifications of pathogenicity	Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1	Criteria Provided Conflicting Classifications	CA10635757	rs_149252070	1 SubmittersRCV000280995 RCV000336056 RCV000395362 RCV000399812
NM_020975.6(RET):c.1187C>T (p.Ser396Leu)	SNV Germline	Chr10:43109154	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome not specified Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16042116	rs_781646869	9 SubmittersRCV000410233 RCV000411297 RCV000574133 RCV000507135 RCV000689688 RCV003463813 RCV005044623
NM_020975.6(RET):c.1879+13C>T	SNV Germline	Chr10:43113688	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Pheochromocytoma Multiple endocrine neoplasia, type 2 RET-related disorder	Criteria Provided Conflicting Classifications	CA035950	rs_375573788	6 SubmittersRCV000409694 RCV000410376 RCV001107248 RCV001107888 RCV001107249 RCV001107887 RCV002058859 RCV004530506
NM_020975.6(RET):c.2116G>A (p.Val706Met)	SNV Germline	Chr10:43114716	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA037364	rs_137855422	12 SubmittersRCV000409130 RCV000410654 RCV000565078 RCV000795272 RCV004567897 RCV004999368 RCV006690403
NM_020975.6(RET):c.2393-14C>T	SNV Germline	Chr10:43119517	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A not specified Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA038910	rs_144269978	8 SubmittersRCV000409467 RCV000411041 RCV001002253 RCV001102853 RCV001102854 RCV001108068 RCV001108069 RCV002058857
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)	SNV Germline	Chr10:43119626	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA039416	rs_200127630	7 SubmittersRCV000409178 RCV000410477 RCV000704852 RCV002429338 RCV002505998 RCV004529566
NM_020975.6(RET):c.3142C>G (p.Leu1048Val)	SNV Germline	Chr10:43126677	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA042766	rs_774347808	8 SubmittersRCV000410987 RCV000412050 RCV000474558 RCV000574881 RCV003235199 RCV004567898
NM_020975.6(RET):c.361G>A (p.Val121Ile)	SNV Germline	Chr10:43102365	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA043459	rs_770548816	6 SubmittersRCV000413174 RCV000563413 RCV001062267 RCV004999370
NM_020975.6(RET):c.2527G>A (p.Glu843Lys)	SNV Germline	Chr10:43119665	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A 6 conditions RET-related disorder	Criteria Provided Conflicting Classifications	CA039575	rs_755837568	9 SubmittersRCV000471342 RCV000562567 RCV000594322 RCV000709123 RCV000763648 RCV004533150
NM_020975.6(RET):c.628G>A (p.Glu210Lys)	SNV Germline	Chr10:43104954	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Hereditary cancer-predisposing syndrome Condition: not provided not specified RET-related disorder Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA16612871	rs_1060500762	10 SubmittersRCV000462331 RCV001107516 RCV001107517 RCV001107518 RCV001107519 RCV001025089 RCV001310571 RCV001797722 RCV004740227 RCV005033973
NM_020975.6(RET):c.650C>A (p.Ala217Asp)	SNV Germline	Chr10:43104976	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA16612872	rs_1060500754	6 SubmittersRCV000470242 RCV001025355 RCV001570499 RCV002502615 RCV004529585
NM_020975.6(RET):c.1018G>T (p.Val340Phe)	SNV Germline	Chr10:43106526	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA030679	rs_367737920	10 SubmittersRCV000470605 RCV000662822 RCV002256246 RCV003327399 RCV005033971
NM_020975.6(RET):c.1375G>A (p.Glu459Lys)	SNV Germline	Chr10:43111318	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA033343	rs_539995816	5 SubmittersRCV000474764 RCV001011224 RCV002481389 RCV003470405
NM_020975.6(RET):c.1878G>A (p.Gln626=)	SNV Germline	Chr10:43113674	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome RET-related disorder	Criteria Provided Conflicting Classifications	CA035935	rs_147692872	8 SubmittersRCV000468334 RCV000662530 RCV001013505 RCV004740226
NM_020975.6(RET):c.2038G>A (p.Ala680Thr)	SNV Germline	Chr10:43114638	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 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	Criteria Provided Conflicting Classifications	CA16612879	rs_184498773	5 SubmittersRCV002418359 RCV003463862 RCV005033972 RCV000460597
NM_020975.6(RET):c.2689C>T (p.Arg897Ter)	SNV Germline	Chr10:43120162	Pathogenic	Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16612889	rs_1060500759	2 SubmittersRCV000461915 RCV002221538
NM_020975.6(RET):c.2932G>A (p.Glu978Lys)	SNV Germline	Chr10:43123801	Conflicting classifications of pathogenicity	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 Hirschsprung disease, susceptibility to, 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA041492	rs_758800351	9 SubmittersRCV000468043 RCV001017564 RCV003463859 RCV002506101 RCV003221984 RCV006263955
NM_020975.6(RET):c.235C>T (p.Arg79Trp)	SNV Germline	Chr10:43100620	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA038673	rs_537523906	8 SubmittersRCV000463969 RCV001015286 RCV001104288 RCV001105645 RCV001105646 RCV001105647 RCV004722767 RCV005033970
NM_020975.6(RET):c.530G>A (p.Arg177Gln)	SNV Germline	Chr10:43102534	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Melanoma	Criteria Provided Conflicting Classifications	CA043905	rs_759229505	8 SubmittersRCV000473800 RCV001294033 RCV002348280 RCV003322771 RCV005044660 RCV005899437
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)	SNV Germline	Chr10:43109132	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16613014	rs_895556824	7 SubmittersRCV000472212 RCV000566718 RCV001107714 RCV001107048 RCV001107049 RCV001107050 RCV005033969
NM_020975.6(RET):c.1250G>A (p.Arg417His)	SNV Germline	Chr10:43109217	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA032287	rs_201030628	5 SubmittersRCV000456803 RCV000571049 RCV004820031
NM_020975.6(RET):c.626-4G>A	SNV Germline	Chr10:43104948	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA044385	rs_775956924	5 SubmittersRCV000575748 RCV001085229 RCV004533217 RCV005355877
NM_020975.6(RET):c.1354C>A (p.Leu452Ile)	SNV Germline	Chr10:43111297	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 2 Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Criteria Provided Conflicting Classifications	CA033242	rs_151148041	8 SubmittersRCV000561647 RCV000662962 RCV000730805 RCV001082963 RCV006443461
NM_020975.6(RET):c.2135T>C (p.Leu712Pro)	SNV Germline	Chr10:43114735	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA037424	rs_760272063	4 SubmittersRCV000465229 RCV003470404 RCV004943844 RCV004999431
NM_020975.6(RET):c.3165A>G (p.Thr1055=)	SNV Germline	Chr10:43126700	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA042861	rs_200289472	3 SubmittersRCV000468530 RCV002323772
NM_020975.6(RET):c.3188-4T>G	SNV Germline	Chr10:43128108	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA054706	rs_748501516	4 SubmittersRCV000459895 RCV002323771 RCV003114597
NM_020975.6(RET):c.175G>A (p.Ala59Thr)	SNV Germline	Chr10:43100560	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA035435	rs_376565365	7 SubmittersRCV000486291 RCV000557492 RCV001013005 RCV004787790
NM_020975.6(RET):c.1055A>G (p.His352Arg)	SNV Germline	Chr10:43106563	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376546507	rs_1131691450	2 SubmittersRCV000494565 RCV001856964
NM_020975.6(RET):c.3288T>G (p.Tyr1096Ter)	SNV Germline	Chr10:43128212	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA376559149	rs_1131691861	1 SubmittersRCV000494324
NM_020975.6(RET):c.1399G>C (p.Val467Leu)	SNV Germline	Chr10:43111342	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA033445	rs_200334340	9 SubmittersRCV002291649 RCV002496914 RCV003470621 RCV000497413 RCV000575346 RCV000688581
NM_020975.6(RET):c.31C>T (p.Leu11=)	SNV Germline	Chr10:43077289	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA469274883	rs_587780812	5 SubmittersRCV002325102 RCV000547016 RCV002491106 RCV005431765
NM_020975.6(RET):c.236G>A (p.Arg79Gln)	SNV Germline	Chr10:43100621	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA376770372	rs_1318325737	7 SubmittersRCV000528844 RCV001015313 RCV002483498 RCV004767387
NM_020975.6(RET):c.1084C>A (p.Leu362Ile)	SNV Germline	Chr10:43109051	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA031444	rs_773935854	7 SubmittersRCV001821651 RCV000531414 RCV000563252 RCV003441942 RCV005034120
NM_020975.6(RET):c.1264-8C>T	SNV Germline	Chr10:43111199	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Pheochromocytoma Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 RET-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA593289956	rs_769595884	5 SubmittersRCV001079777 RCV001107716 RCV001107717 RCV001107718 RCV001107715 RCV004530582 RCV006260237
NM_020975.6(RET):c.1306A>G (p.Ile436Val)	SNV Germline	Chr10:43111249	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA033031	rs_770736612	3 SubmittersRCV000525768 RCV002384266 RCV004596263
NM_020975.6(RET):c.1312G>A (p.Val438Ile)	SNV Germline	Chr10:43111255	Conflicting classifications of pathogenicity	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 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome RET-related disorder	Criteria Provided Conflicting Classifications	CA033053	rs_774474422	7 SubmittersRCV000540480 RCV002483496 RCV000663209 RCV003302887 RCV004530583
NM_020975.6(RET):c.1958C>G (p.Ser653Cys)	SNV Germline	Chr10:43114558	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA036691	rs_753724503	3 SubmittersRCV000541231 RCV002420536
NM_020975.6(RET):c.2030G>A (p.Arg677Gln)	SNV Germline	Chr10:43114630	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA036983	rs_536038262	5 SubmittersRCV002420537 RCV000545044 RCV004791573
NM_020975.6(RET):c.2945G>A (p.Arg982His)	SNV Germline	Chr10:43124888	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA041809	rs_368550200	7 SubmittersRCV001017621 RCV000536923 RCV003156261 RCV000763650
NM_020975.6(RET):c.3059C>T (p.Ala1020Val)	SNV Germline	Chr10:43126594	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA042456	rs_372191563	7 SubmittersRCV000528285 RCV001018359 RCV002476202 RCV000679742 RCV003470794
NM_020975.6(RET):c.18C>T (p.Ser6=)	SNV Germline	Chr10:43077276	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA469274810	rs_1185431356	4 SubmittersRCV001013606 RCV000547863 RCV003237924
NM_020975.6(RET):c.170G>A (p.Arg57Gln)	SNV Germline	Chr10:43100555	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA035162	rs_779915615	6 SubmittersRCV000558252 RCV000561648 RCV000679722
NM_020975.6(RET):c.230G>A (p.Arg77His)	SNV Germline	Chr10:43100615	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA038543	rs_570176656	4 SubmittersRCV000525207 RCV001015133 RCV004722923
NM_020975.6(RET):c.322A>C (p.Lys108Gln)	SNV Germline	Chr10:43100707	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Condition: not provided RET-related disorder	Criteria Provided Conflicting Classifications	CA043092	rs_567877611	7 SubmittersRCV001019322 RCV000546040 RCV003316732 RCV003237925 RCV004530584
NM_020975.6(RET):c.718G>C (p.Val240Leu)	SNV Germline	Chr10:43105044	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA044589	rs_375120544	8 SubmittersRCV000533533 RCV000565358 RCV001103893 RCV001103895 RCV001103892 RCV001103894 RCV004822108 RCV005034123
NM_020975.6(RET):c.731C>T (p.Thr244Ile)	SNV Germline	Chr10:43105057	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA044641	rs_145970248	6 SubmittersRCV000557609 RCV001026272 RCV002506371 RCV005416370
NM_020975.6(RET):c.973G>A (p.Ala325Thr)	SNV Germline	Chr10:43106481	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA045679	rs_779719517	8 SubmittersRCV000528670 RCV000709105 RCV000566312 RCV003327423 RCV003459267
NM_020975.6(RET):c.1574G>A (p.Arg525Gln)	SNV Germline	Chr10:43112150	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA034474	rs_752830820	5 SubmittersRCV000562267 RCV000554802 RCV004791572
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)	SNV Germline	Chr10:43113594	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 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 Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Criteria Provided Conflicting Classifications	CA035694	rs_745418960	6 SubmittersRCV001013214 RCV001107244 RCV001107246 RCV001107245 RCV001107247 RCV000549713 RCV002491103 RCV006436840
NM_020975.6(RET):c.2305C>T (p.Leu769=)	SNV Germline	Chr10:43118393	Conflicting classifications of pathogenicity	Condition: not provided 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	Criteria Provided Conflicting Classifications	CA038497	rs_142793711	3 SubmittersRCV003228955 RCV002476201 RCV000551339
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu)	SNV Germline	Chr10:43128124	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA054768	rs_760625882	7 SubmittersRCV000535690 RCV001294031 RCV002448801 RCV001811073
NM_020975.6(RET):c.30G>A (p.Gly10=)	SNV Germline	Chr10:43077288	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 RET-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA206710332	rs_1050242868	5 SubmittersRCV001018644 RCV000553487 RCV004740325 RCV004817770
NM_020975.6(RET):c.109T>C (p.Trp37Arg)	SNV Germline	Chr10:43100494	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA031539	rs_777042445	2 SubmittersRCV000530645 RCV002448800
NM_020975.6(RET):c.176C>T (p.Ala59Val)	SNV Germline	Chr10:43100561	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376770251	rs_1554817372	2 SubmittersRCV000535796 RCV006717131
NM_020975.6(RET):c.566G>A (p.Arg189His)	SNV Germline	Chr10:43102570	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA043969	rs_753707182	5 SubmittersRCV000526271 RCV001105728 RCV002350393 RCV001105729 RCV001105730 RCV001105731
NM_020975.6(RET):c.943A>C (p.Thr315Pro)	SNV Germline	Chr10:43106451	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA045562	rs_774637214	6 SubmittersRCV000535337 RCV002377189 RCV000679756 RCV003459266 RCV005034124
NM_020975.6(RET):c.1090A>G (p.Ile364Val)	SNV Germline	Chr10:43109057	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA376547274	rs_1308447836	8 SubmittersRCV000552058 RCV003459262 RCV002456263 RCV006634409 RCV004772996 RCV005034121
NM_020975.6(RET):c.1189G>A (p.Val397Met)	SNV Germline	Chr10:43109156	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Ovarian cancer Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Conflicting Classifications	CA032076	rs_183729115	5 SubmittersRCV000534092 RCV004024396 RCV003153730 RCV005034122
NM_020975.6(RET):c.1566C>T (p.Ser522=)	SNV Germline	Chr10:43112142	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA206261749	rs_929663686	4 SubmittersRCV001012164 RCV000554444 RCV005426167
NM_020975.6(RET):c.2041C>G (p.Gln681Glu)	SNV Germline	Chr10:43114641	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified Hirschsprung disease, susceptibility to, 1 Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA037016	rs_567241943	7 SubmittersRCV000558712 RCV001014192 RCV003330795 RCV003470793 RCV006255740 RCV004791574
NM_020975.6(RET):c.2392+6G>T	SNV Germline	Chr10:43118486	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA658656068	rs_1554819413	2 SubmittersRCV000541616 RCV005422100
NM_020975.6(RET):c.2801+9G>A	SNV Germline	Chr10:43122025	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA041097	rs_780912886	3 SubmittersRCV000544591 RCV005426170
NM_020975.6(RET):c.2939+7G>A	SNV Germline	Chr10:43123815	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia not specified	Criteria Provided Conflicting Classifications	CA206267380	rs_374565577	3 SubmittersRCV000526600 RCV001102948 RCV001108157 RCV001102949 RCV001108156 RCV004596264
NM_020975.6(RET):c.-37G>C	SNV Germline	Chr10:43077222	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA043526	rs_751005619	5 SubmittersRCV000526991 RCV002225663 RCV005357619 RCV005044835
NM_020975.6(RET):c.74-5C>T	SNV Germline	Chr10:43100454	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA658657959	rs_1554817349	3 SubmittersRCV001442138 RCV004024397
NM_020975.6(RET):c.487C>A (p.Arg163=)	SNV Germline	Chr10:43102491	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 not specified	Criteria Provided Conflicting Classifications	CA043827	rs_371153966	8 SubmittersRCV000679752 RCV001023187 RCV001103797 RCV001103795 RCV001084075 RCV001103796 RCV001105727 RCV006458621
NM_020975.6(RET):c.603C>T (p.Ser201=)	SNV Germline	Chr10:43102607	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA044075	rs_780120451	5 SubmittersRCV002358621 RCV001106847 RCV001106848 RCV001106849 RCV001107515 RCV000555991
NM_020975.6(RET):c.1163T>C (p.Val388Ala)	SNV Germline	Chr10:43109130	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA031993	rs_751939820	5 SubmittersRCV000560343 RCV001010068 RCV004719874
NM_020975.6(RET):c.1441C>G (p.Leu481Val)	SNV Germline	Chr10:43111384	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA033651	rs_767210575	4 SubmittersRCV000524715 RCV001011599 RCV000662529
NM_020975.6(RET):c.1649G>A (p.Gly550Glu)	SNV Germline	Chr10:43112853	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA034935	rs_747844360	2 SubmittersRCV000543567 RCV002395488
NM_020975.6(RET):c.553T>C (p.Phe185Leu)	SNV Germline	Chr10:43102557	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA206256167	rs_1048022444	2 SubmittersRCV000571696 RCV001858383
NM_020975.6(RET):c.457T>A (p.Ser153Thr)	SNV Germline	Chr10:43102461	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376770870	rs_1341922880	3 SubmittersRCV000568512 RCV001247153
NM_020975.6(RET):c.3153C>G (p.Ala1051=)	SNV Germline	Chr10:43126688	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA206267851	rs_755946631	4 SubmittersRCV000562319 RCV001393110 RCV005000321
NM_020975.6(RET):c.2005A>G (p.Ile669Val)	SNV Germline	Chr10:43114605	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA036871	rs_776986585	6 SubmittersRCV000566339 RCV001359410 RCV002491139 RCV003222050 RCV005427073
NM_020975.6(RET):c.2403C>T (p.Leu801=)	SNV Germline	Chr10:43119541	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA469479710	rs_1554819519	5 SubmittersRCV000572478 RCV000869947 RCV001102855 RCV001102856 RCV001102858 RCV001102857 RCV005422218
NM_020975.6(RET):c.31C>A (p.Leu11Met)	SNV Germline	Chr10:43077289	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 not specified RET-related disorder Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA206710333	rs_587780812	8 SubmittersRCV000575741 RCV000689589 RCV001821691 RCV004530620 RCV005034142
NM_020975.6(RET):c.452A>G (p.Asn151Ser)	SNV Germline	Chr10:43102456	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA043742	rs_150261092	7 SubmittersRCV000575489 RCV000709102 RCV000812605 RCV001764690 RCV003459399 RCV002483540
NM_020975.6(RET):c.20G>A (p.Gly7Asp)	SNV Germline	Chr10:43077278	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Malignant tumor of breast Condition: not provided Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA376768033	rs_1366681125	9 SubmittersRCV000567089 RCV000688487 RCV001269372 RCV003314623 RCV003459397 RCV002497216
NM_020975.6(RET):c.736C>A (p.His246Asn)	SNV Germline	Chr10:43105062	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA044654	rs_780756440	7 SubmittersRCV000568616 RCV001227818 RCV003459398 RCV002506384 RCV004767409
NM_020975.6(RET):c.394C>A (p.Leu132Ile)	SNV Germline	Chr10:43102398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376770728	rs_1554817540	2 SubmittersRCV000573093 RCV001342323
NM_020975.6(RET):c.740C>T (p.Ala247Val)	SNV Germline	Chr10:43105066	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA206256814	rs_61843232	2 SubmittersRCV000574821 RCV001366883
NM_020975.6(RET):c.1216A>G (p.Ser406Gly)	SNV Germline	Chr10:43109183	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA032165	rs_756532455	6 SubmittersRCV000686269 RCV000566445 RCV002530239 RCV003153736
NM_020975.6(RET):c.1493C>T (p.Ala498Val)	SNV Germline	Chr10:43111436	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome 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 Condition: not provided Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA033877	rs_375677628	8 SubmittersRCV000569143 RCV000696079 RCV002476248 RCV002508232 RCV003325206 RCV004569286
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)	SNV Germline	Chr10:43109069	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA031579	rs_754116867	8 SubmittersRCV000567474 RCV000802145 RCV002476249 RCV003225093 RCV004569289
NM_020975.6(RET):c.1501C>T (p.Leu501Phe)	SNV Germline	Chr10:43111444	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376549987	rs_199572076	2 SubmittersRCV000564433 RCV001853799
NM_020975.6(RET):c.1771G>A (p.Val591Ile)	SNV Germline	Chr10:43113567	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA206262326	rs_776013456	4 SubmittersRCV000573728 RCV000809432 RCV003117341
NM_020975.6(RET):c.2290G>A (p.Ala764Thr)	SNV Germline	Chr10:43118378	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA038434	rs_748799148	7 SubmittersRCV000576114 RCV000654575 RCV002476250 RCV004592777 RCV005427074
NM_020975.6(RET):c.1523-12T>G	SNV Germline	Chr10:43112087	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA658797416	rs_1429462039	3 SubmittersRCV000605552 RCV004002634
NM_020975.6(RET):c.2393-5C>T	SNV Germline	Chr10:43119526	Conflicting classifications of pathogenicity	not specified 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	Criteria Provided Conflicting Classifications	CA658797418	rs_1554819512	4 SubmittersRCV000615821 RCV001433390 RCV002476358 RCV003352939
NM_020975.6(RET):c.1364T>C (p.Val455Ala)	SNV Germline	Chr10:43111307	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA033305	rs_752267460	3 SubmittersRCV000654600 RCV004944075
NM_020975.6(RET):c.2758A>G (p.Ile920Val)	SNV Germline	Chr10:43121973	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 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 2A	Criteria Provided Conflicting Classifications	CA040857	rs_527787676	5 SubmittersRCV000654583 RCV002440390 RCV005046844 RCV004792346
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)	SNV Germline	Chr10:43126587	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA042397	rs_766330880	9 SubmittersRCV000654577 RCV000709125 RCV001106020 RCV001106021 RCV001106022 RCV001106023 RCV001018329 RCV003318621 RCV003493698
NM_020975.6(RET):c.1538C>G (p.Ala513Gly)	SNV Germline	Chr10:43112114	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA034343	rs_149238501	6 SubmittersRCV000654589 RCV001012090 RCV003442008
NM_020975.6(RET):c.1677T>C (p.Ser559=)	SNV Germline	Chr10:43112881	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469027711	rs_1554818698	3 SubmittersRCV000654614 RCV002406486
NM_020975.6(RET):c.2735G>T (p.Arg912Leu)	SNV Germline	Chr10:43121950	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA040762	rs_78347871	6 SubmittersRCV000654572 RCV002440388 RCV003238798 RCV005427224
NM_020975.6(RET):c.237G>T (p.Arg79=)	SNV Germline	Chr10:43100622	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469490672	rs_1554817395	5 SubmittersRCV000729527 RCV001088057 RCV001015327
NM_020975.6(RET):c.1138G>A (p.Asp380Asn)	SNV Germline	Chr10:43109105	Conflicting classifications of pathogenicity	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA376547437	rs_1394361948	6 SubmittersRCV000654554 RCV002485478 RCV005268702 RCV005000470
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)	SNV Germline	Chr10:43120130	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA040313	rs_373594744	13 SubmittersRCV000654581 RCV000708758 RCV002284418 RCV002477456 RCV003313129 RCV003459554 RCV004792345 RCV005357871
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)	SNV Germline	Chr10:43128123	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Conflicting Classifications	CA054755	rs_775583354	7 SubmittersRCV000654601 RCV000663067 RCV001019124 RCV002284419 RCV002507130
NM_020975.6(RET):c.577G>T (p.Val193Leu)	SNV Germline	Chr10:43102581	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA206256170	rs_1008123818	5 SubmittersRCV000654552 RCV001024524 RCV002485477
NM_020975.6(RET):c.1686C>T (p.Thr562=)	SNV Germline	Chr10:43112890	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA035077	rs_767502292	4 SubmittersRCV000654612 RCV002397328 RCV003237979
NM_020975.6(RET):c.1963T>C (p.Phe655Leu)	SNV Germline	Chr10:43114563	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA036702	rs_756978792	2 SubmittersRCV000654563 RCV001013883
NM_020975.6(RET):c.1016C>T (p.Ser339Leu)	SNV Germline	Chr10:43106524	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA030658	rs_774829203	6 SubmittersRCV000663096 RCV000818592 RCV002343411 RCV002485508
NM_020975.6(RET):c.1083C>A (p.Asn361Lys)	SNV Germline	Chr10:43109050	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided RET-related disorder Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA031414	rs_770587835	11 SubmittersRCV000663048 RCV000823028 RCV001017228 RCV001816663 RCV002469239 RCV004533456 RCV004568482
NM_020975.6(RET):c.1649-4G>A	SNV Germline	Chr10:43112849	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA034881	rs_369769303	7 SubmittersRCV000663217 RCV000862007 RCV001012564 RCV001104474 RCV001104475 RCV001104476 RCV001104477 RCV004546550
NM_020975.6(RET):c.2392+19T>C	SNV Germline	Chr10:43118499	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome RET-related disorder not specified Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA038787	rs_778745375	9 SubmittersRCV000662501 RCV000835063 RCV001455001 RCV002256459 RCV004740392 RCV005240417 RCV005034230
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)	SNV Germline	Chr10:43126711	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA206267860	rs_772395752	7 SubmittersRCV000663319 RCV000691242 RCV002325336 RCV002485509 RCV003459563 RCV004702267
NM_020975.6(RET):c.884C>T (p.Thr295Met)	SNV Germline	Chr10:43106392	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA045369	rs_758159521	6 SubmittersRCV001018407 RCV001040270 RCV001779040 RCV004527722 RCV004792356
NM_020975.6(RET):c.1827C>T (p.Cys609=)	SNV Germline	Chr10:43113623	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469027870	rs_377767396	2 SubmittersRCV003481967 RCV005714974
NM_020975.6(RET):c.1860C>T (p.Cys620=)	SNV Germline	Chr10:43113656	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome RET-related disorder Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA035823	rs_79890926	7 SubmittersRCV000695872 RCV002256461 RCV004740393 RCV005427235 RCV005034231
NM_020975.6(RET):c.860G>A (p.Arg287Gln)	SNV Germline	Chr10:43105186	Pathogenic	Aganglionic megacolon	No Assertion Criteria Provided	CA376545422	rs_1564491460	1 SubmittersRCV000678744
NM_020975.6(RET):c.602G>C (p.Ser201Thr)	SNV Germline	Chr10:43102606	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA206256179	rs_898525501	8 SubmittersRCV000679753 RCV001066218 RCV002352100 RCV002499197 RCV003459652
NM_020975.6(RET):c.3093C>T (p.Asp1031=)	SNV Germline	Chr10:43126628	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA042545	rs_369116900	4 SubmittersRCV000679743 RCV001078589 RCV002325342
NM_020975.6(RET):c.433G>A (p.Val145Ile)	SNV Germline	Chr10:43102437	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome 6 conditions Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376770813	rs_1311922451	5 SubmittersRCV001269771 RCV002332452 RCV000764893 RCV000695077
NM_020975.6(RET):c.1094C>T (p.Ser365Leu)	SNV Germline	Chr10:43109061	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA031493	rs_763670106	6 SubmittersRCV000687406 RCV001017260 RCV003442020 RCV003459671
NM_020975.6(RET):c.1450A>G (p.Met484Val)	SNV Germline	Chr10:43111393	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA376549682	rs_755660496	4 SubmittersRCV000702631 RCV002388321 RCV005034318
NM_020975.6(RET):c.3094G>A (p.Gly1032Ser)	SNV Germline	Chr10:43126629	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA042562	rs_757373375	6 SubmittersRCV000706711 RCV001018566 RCV003238196 RCV003460986
NM_020975.6(RET):c.3256G>A (p.Gly1086Arg)	SNV Germline	Chr10:43128180	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA054923	rs_778452896	4 SubmittersRCV000688843 RCV002325368
NM_020975.6(RET):c.224C>T (p.Thr75Met)	SNV Germline	Chr10:43100609	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer not specified	Criteria Provided Conflicting Classifications	CA038004	rs_142641173	9 SubmittersRCV000690605 RCV001014923 RCV001662755 RCV003153803 RCV005431879
NM_020975.6(RET):c.398G>A (p.Arg133His)	SNV Germline	Chr10:43102402	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA043594	rs_138265837	7 SubmittersRCV000688498 RCV001021592 RCV002469258 RCV002485619 RCV004692095
NM_020975.6(RET):c.754G>A (p.Glu252Lys)	SNV Germline	Chr10:43105080	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA206256829	rs_950977184	6 SubmittersRCV000706652 RCV001026552 RCV005231299
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)	SNV Germline	Chr10:43114729	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA037409	rs_774983492	11 SubmittersRCV000703840 RCV000709118 RCV000708756 RCV001104665 RCV001104666 RCV001104667 RCV001104668 RCV002499266 RCV004588148
NM_020975.6(RET):c.3152C>T (p.Ala1051Val)	SNV Germline	Chr10:43126687	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA376558496	rs_1564501944	3 SubmittersRCV000688272 RCV004659166 RCV005046927
NM_020975.6(RET):c.111G>A (p.Trp37Ter)	SNV Germline	Chr10:43100496	Pathogenic	Aganglionic megacolon	No Assertion Criteria Provided	CA376770113	rs_1564489315	1 SubmittersRCV000736270
NM_020975.6(RET):c.440T>C (p.Phe147Ser)	SNV Germline	Chr10:43102444	Likely pathogenic	Aganglionic megacolon	No Assertion Criteria Provided	CA376770831	rs_1564490097	1 SubmittersRCV000736272
NM_020975.6(RET):c.604G>C (p.Val202Leu)	SNV Germline	Chr10:43102608	Likely pathogenic	Aganglionic megacolon	No Assertion Criteria Provided	CA376543643	rs_751572082	1 SubmittersRCV000736273
NM_020975.6(RET):c.1202G>A (p.Ser401Asn)	SNV Germline	Chr10:43109169	Conflicting classifications of pathogenicity	Ependymoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376547774	rs_1564493414	2 SubmittersRCV000761047 RCV004949893
NM_020975.6(RET):c.16T>G (p.Ser6Ala)	SNV Germline	Chr10:43077274	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376768026	rs_1588848475	2 SubmittersRCV000811238 RCV005712272
NM_020975.6(RET):c.82G>A (p.Gly28Ser)	SNV Germline	Chr10:43100467	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA045033	rs_779905135	8 SubmittersRCV000807337 RCV002424881 RCV002495105 RCV003148868 RCV004569642
NM_020975.6(RET):c.268G>T (p.Glu90Ter)	SNV Germline	Chr10:43100653	Pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376770450	rs_1588862638	1 SubmittersRCV000796315
NM_020975.6(RET):c.388A>G (p.Thr130Ala)	SNV Germline	Chr10:43102392	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376770718	rs_1588863938	2 SubmittersRCV000798358 RCV004944162
NM_020975.6(RET):c.391T>C (p.Ser131Pro)	SNV Germline	Chr10:43102395	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA043552	rs_375576038	3 SubmittersRCV000805198 RCV003166245
NM_020975.6(RET):c.523C>G (p.Arg175Gly)	SNV Germline	Chr10:43102527	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA376543371	rs_1057521088	5 SubmittersRCV000794783 RCV002334475 RCV004783858 RCV005036139
NM_020975.6(RET):c.701G>A (p.Arg234Gln)	SNV Germline	Chr10:43105027	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA376544612	rs_756216318	8 SubmittersRCV000819920 RCV001788362 RCV002363147 RCV002495168 RCV003130074
NM_020975.6(RET):c.1008C>G (p.Asn336Lys)	SNV Germline	Chr10:43106516	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA030592	rs_144981275	6 SubmittersRCV000814407 RCV001009678 RCV003467473 RCV004740458 RCV004792517
NM_020975.6(RET):c.1063A>G (p.Arg355Gly)	SNV Germline	Chr10:43106571	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA031100	rs_145402131	7 SubmittersRCV000824530 RCV004569789 RCV005047121 RCV001009795 RCV004792544
NM_020975.6(RET):c.1271A>G (p.Lys424Arg)	SNV Germline	Chr10:43111214	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA376548835	rs_1176090269	4 SubmittersRCV000799163 RCV002370104 RCV004773157
NM_020975.6(RET):c.1327C>T (p.His443Tyr)	SNV Germline	Chr10:43111270	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA033105	rs_772292843	3 SubmittersRCV000809124 RCV002381795
NM_020975.6(RET):c.1343A>G (p.Asn448Ser)	SNV Germline	Chr10:43111286	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA376549104	rs_760832715	4 SubmittersRCV000802993 RCV002386436 RCV005036168 RCV006450349
NM_020975.6(RET):c.1421G>A (p.Arg474Gln)	SNV Germline	Chr10:43111364	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Pheochromocytoma Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA033507	rs_747139265	6 SubmittersRCV000800480 RCV001011510 RCV005036163 RCV006261082
NM_020975.6(RET):c.1456G>T (p.Val486Leu)	SNV Germline	Chr10:43111399	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA376549719	rs_1588871361	4 SubmittersRCV000812410 RCV002390643 RCV004761811
NM_020975.6(RET):c.1469A>G (p.Gln490Arg)	SNV Germline	Chr10:43111412	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA033797	rs_750291418	2 SubmittersRCV000798219 RCV002388457
NM_020975.6(RET):c.1783G>T (p.Glu595Ter)	SNV Germline	Chr10:43113579	Pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376552530	rs_1483605155	1 SubmittersRCV000814670
NM_020975.6(RET):c.2365A>G (p.Lys789Glu)	SNV Germline	Chr10:43118453	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA376555847	rs_1352006130	6 SubmittersRCV000811746 RCV002453836 RCV002495126 RCV003461202 RCV004773182 RCV004792510
NM_020975.6(RET):c.3021G>C (p.Lys1007Asn)	SNV Germline	Chr10:43124964	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA376558208	rs_786204098	4 SubmittersRCV000820560 RCV001018121 RCV002469300 RCV003153865
NM_020975.6(RET):c.1879+1G>A	SNV Germline	Chr10:43113676	Pathogenic/Likely pathogenic	Hirschsprung disease, susceptibility to, 1 Condition: not provided Multiple endocrine neoplasia, type 2	Criteria Provided Multiple Submitters No Conflicts	CA376552871	rs_1588873476	4 SubmittersRCV000825021 RCV003141864 RCV003532285
NM_020975.6(RET):c.712G>T (p.Glu238Ter)	SNV Germline	Chr10:43105038	Pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376544690	rs_1588866040	1 SubmittersRCV000853339
NM_020975.6(RET):c.860G>T (p.Arg287Leu)	SNV Germline	Chr10:43105186	Likely pathogenic	Aganglionic megacolon	Criteria Provided Single Submitter	CA376545427	rs_1564491460	1 SubmittersRCV000853370
NM_020975.6(RET):c.1753T>C (p.Cys585Arg)	SNV Germline	Chr10:43112957	Likely pathogenic	Aganglionic megacolon	Criteria Provided Single Submitter	CA376552233	rs_1588872865	1 SubmittersRCV000857245
NM_020975.6(RET):c.2115C>T (p.Ser705=)	SNV Germline	Chr10:43114715	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA469480003	rs_1247902894	4 SubmittersRCV000863364 RCV002415988 RCV005427318
NM_020975.6(RET):c.2089C>T (p.Leu697=)	SNV Germline	Chr10:43114689	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA469479981	rs_1588874416	7 SubmittersRCV000865755 RCV002416009 RCV002501251 RCV004997418 RCV005423044
NM_020975.6(RET):c.306C>T (p.Asp102=)	SNV Germline	Chr10:43100691	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469490805	rs_1588862691	3 SubmittersRCV000875671 RCV001482750 RCV002444958
NM_020975.6(RET):c.1146G>A (p.Gln382=)	SNV Germline	Chr10:43109113	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA031792	rs_770637118	4 SubmittersRCV000877606 RCV001490918 RCV002268346 RCV002454051
NM_020975.6(RET):c.3123G>A (p.Val1041=)	SNV Germline	Chr10:43126658	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 RET-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA042670	rs_147437610	3 SubmittersRCV000875391 RCV004541742 RCV005470550
NM_020975.6(RET):c.1523-5T>C	SNV Germline	Chr10:43112094	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA592894663	rs_1373899196	5 SubmittersRCV000872147 RCV001012003 RCV001817017 RCV005427337
NM_020975.6(RET):c.2136+9C>T	SNV Germline	Chr10:43114745	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA593290004	rs_1331402266	4 SubmittersRCV000876638 RCV005047139 RCV004530852 RCV005427346
NM_020975.6(RET):c.2262G>C (p.Thr754=)	SNV Germline	Chr10:43116709	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469028060	rs_779080598	3 SubmittersRCV001436292 RCV002445101
NM_020975.6(RET):c.1648+10G>A	SNV Germline	Chr10:43112234	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA034739	rs_762545740	3 SubmittersRCV000897128 RCV001818722 RCV005423083
NM_020975.6(RET):c.2340G>A (p.Lys780=)	SNV Germline	Chr10:43118428	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469028157	rs_1588876500	2 SubmittersRCV001416650 RCV005470559
NM_020975.6(RET):c.202C>T (p.Leu68=)	SNV Germline	Chr10:43100587	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469490581	rs_1588862565	4 SubmittersRCV000938652 RCV002416192
NM_020975.6(RET):c.933G>A (p.Val311=)	SNV Germline	Chr10:43106441	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469023686	rs_1210305963	3 SubmittersRCV000940863 RCV005427428 RCV004944746
NM_020975.6(RET):c.1662C>T (p.Asn554=)	SNV Germline	Chr10:43112866	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469027695	rs_1253582681	2 SubmittersRCV001471130 RCV004944748
NM_020975.6(RET):c.15G>C (p.Thr5=)	SNV Germline	Chr10:43077273	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA469274808	rs_1226499208	4 SubmittersRCV001012310 RCV001480371 RCV004777920
NM_020975.6(RET):c.143C>T (p.Thr48Met)	SNV Germline	Chr10:43100528	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA376770187	rs_1427186016	6 SubmittersRCV001011585 RCV001069718 RCV003447573 RCV004783877
NM_020975.6(RET):c.467C>T (p.Ala156Val)	SNV Germline	Chr10:43102471	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376770894	rs_1588864039	2 SubmittersRCV001022883 RCV001862235
NM_020975.6(RET):c.607G>A (p.Ala203Thr)	SNV Germline	Chr10:43102611	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA044096	rs_755007607	4 SubmittersRCV001024872 RCV001304872
NM_020975.6(RET):c.890G>A (p.Arg297His)	SNV Germline	Chr10:43106398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA376545706	rs_1480040525	7 SubmittersRCV001018506 RCV001344857 RCV002489523 RCV004588490
NM_020975.6(RET):c.1141T>C (p.Phe381Leu)	SNV Germline	Chr10:43109108	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA031741	rs_781362020	4 SubmittersRCV001017444 RCV001062743 RCV003328101 RCV003132142
NM_020975.6(RET):c.1363G>A (p.Val455Ile)	SNV Germline	Chr10:43111306	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA033292	rs_145966037	5 SubmittersRCV001011134 RCV001070712 RCV002481819 RCV006261203
NM_020975.6(RET):c.1471C>T (p.Gln491Ter)	SNV Germline	Chr10:43111414	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Multiple Submitters No Conflicts	CA376549803	rs_1397494237	2 SubmittersRCV001011763 RCV002549346
NM_020975.6(RET):c.1717G>A (p.Val573Met)	SNV Germline	Chr10:43112921	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA035206	rs_758766818	5 SubmittersRCV001012856 RCV001071883 RCV003480903
NM_020975.6(RET):c.1914C>T (p.Ile638=)	SNV Germline	Chr10:43114514	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA036533	rs_375041479	6 SubmittersRCV001013679 RCV001493439 RCV004545014 RCV005428011
NM_020975.6(RET):c.2234A>G (p.His745Arg)	SNV Germline	Chr10:43116681	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA206263731	rs_534094626	2 SubmittersRCV001014895 RCV001053447
NM_020975.6(RET):c.3304T>C (p.Ser1102Pro)	SNV Germline	Chr10:43128228	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA376559230	rs_1305555370	5 SubmittersRCV001019824 RCV001240737 RCV004569985 RCV004998557
NM_020975.6(RET):c.178C>T (p.Pro60Ser)	SNV Germline	Chr10:43100563	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA035676	rs_748402485	7 SubmittersRCV001071199 RCV002411620 RCV002489713 RCV003462620 RCV006634456
NM_020975.6(RET):c.650C>T (p.Ala217Val)	SNV Germline	Chr10:43104976	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376544366	rs_1060500754	3 SubmittersRCV001071229 RCV005036382 RCV006721146
NM_020975.6(RET):c.733G>A (p.Val245Met)	SNV Germline	Chr10:43105059	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Ovarian cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA376544790	rs_1837733068	5 SubmittersRCV001056109 RCV003160453 RCV003153912 RCV006261307
NM_020975.6(RET):c.1249C>T (p.Arg417Cys)	SNV Germline	Chr10:43109216	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA376548057	rs_1478152005	4 SubmittersRCV001045751 RCV002400260 RCV005423839
NM_020975.6(RET):c.1440A>T (p.Glu480Asp)	SNV Germline	Chr10:43111383	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA033633	rs_763296134	4 SubmittersRCV001048411 RCV002393238 RCV003462539
NM_020975.6(RET):c.1522T>C (p.Tyr508His)	SNV Germline	Chr10:43111465	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA034161	rs_775152474	5 SubmittersRCV001061306 RCV002393301 RCV003442186 RCV005047270
NM_020975.6(RET):c.3139C>T (p.Pro1047Ser)	SNV Germline	Chr10:43126674	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA206267845	rs_369152977	4 SubmittersRCV001035018 RCV002320227 RCV004998580
NM_020975.6(RET):c.3192G>A (p.Met1064Ile)	SNV Germline	Chr10:43128116	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA054728	rs_144730090	7 SubmittersRCV001056445 RCV002445297 RCV002482014 RCV003238833 RCV005055150
NM_020975.6(RET):c.1064-6C>A	SNV Germline	Chr10:43109025	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA592894146	rs_768878280	2 SubmittersRCV001041016 RCV006261284
NM_020975.6(RET):c.1264-10G>A	SNV Germline	Chr10:43111197	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA916081582	rs_1837911590	2 SubmittersRCV001040346 RCV002481879
NM_020975.6(RET):c.2629G>C (p.Ala877Pro)	SNV Germline	Chr10:43120102	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376557057	rs_1838178869	1 SubmittersRCV001089963
NM_020975.6(RET):c.*29C>A	SNV Germline	Chr10:43128298	Conflicting classifications of pathogenicity	Pheochromocytoma Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA053931	rs_199639914	2 SubmittersRCV001103050 RCV001103049 RCV001104961 RCV001104962 RCV003321801
NM_020975.6(RET):c.*1046G>C	SNV Germline	Chr10:43129315	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Renal hypodysplasia/aplasia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA206268406	rs_143948954	2 SubmittersRCV001105164 RCV001105162 RCV001105163 RCV001105165 RCV002264184
NM_020975.6(RET):c.*1326T>C	SNV Germline	Chr10:43129595	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA206268455	rs_141016377	1 SubmittersRCV001103337 RCV001103338 RCV001103339 RCV001103340
NM_020975.6(RET):c.*1430A>G	SNV Germline	Chr10:43129699	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA206268468	rs_775114955	2 SubmittersRCV001105257 RCV001105256 RCV001105254 RCV001105255 RCV002275285
NM_020975.6(RET):c.*1812C>A	SNV Germline	Chr10:43130081	Conflicting classifications of pathogenicity	Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA206268532	rs_183817000	1 SubmittersRCV001103515 RCV001103516 RCV001105442 RCV001105441
NM_020975.6(RET):c.1880-5C>A	SNV Germline	Chr10:43114475	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA1139659376	rs_1838016447	3 SubmittersRCV001107890 RCV001107889 RCV002411629 RCV005093487 RCV001102655 RCV001102656
NM_020975.6(RET):c.1711G>A (p.Asp571Asn)	SNV Germline	Chr10:43112915	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA035189	rs_750958377	4 SubmittersRCV001224329 RCV002402700 RCV006258465
NM_020975.6(RET):c.307C>T (p.His103Tyr)	SNV Germline	Chr10:43100692	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376770535	rs_1217820916	3 SubmittersRCV001211530 RCV002319675
NM_020975.6(RET):c.750C>T (p.Arg250=)	SNV Germline	Chr10:43105076	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA206256823	rs_1013952995	5 SubmittersRCV001209376 RCV002393470 RCV002480689 RCV004538450
NM_020975.6(RET):c.960C>A (p.Pro320=)	SNV Germline	Chr10:43106468	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA045620	rs_756761746	8 SubmittersRCV001206433 RCV002256697 RCV002484114 RCV005428136 RCV006266632
NM_020975.6(RET):c.1203C>A (p.Ser401Arg)	SNV Germline	Chr10:43109170	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376547783	rs_781623106	4 SubmittersRCV001205511 RCV002348671
NM_020975.6(RET):c.3285A>G (p.Val1095=)	SNV Germline	Chr10:43128209	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA469033760	rs_1838376770	3 SubmittersRCV001207466 RCV002447066 RCV003233993
NM_020975.6(RET):c.742G>A (p.Gly248Ser)	SNV Germline	Chr10:43105068	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376544830	rs_1837733775	3 SubmittersRCV001234495 RCV002246222 RCV002379894
NM_020975.6(RET):c.1385C>T (p.Ser462Leu)	SNV Germline	Chr10:43111328	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Ovarian cancer	Criteria Provided Conflicting Classifications	CA376549337	rs_1313331250	5 SubmittersRCV001228900 RCV002393566 RCV002497777 RCV003153952
NM_020975.6(RET):c.1888T>G (p.Cys630Gly)	SNV Germline	Chr10:43114488	Likely pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376552897	rs_377767404	1 SubmittersRCV001231313
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)	SNV Germline	Chr10:43128256	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA206268174	rs_1003057639	5 SubmittersRCV001238151 RCV002246228 RCV002322139 RCV003462806
NM_020975.6(RET):c.724G>A (p.Val242Met)	SNV Germline	Chr10:43105050	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA376544735	rs_1264337497	3 SubmittersRCV001248230 RCV002375304 RCV004769969
NM_020975.6(RET):c.1450A>C (p.Met484Leu)	SNV Germline	Chr10:43111393	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376549680	rs_755660496	2 SubmittersRCV001247478 RCV006287377
NM_020975.6(RET):c.1098G>C (p.Glu366Asp)	SNV Germline	Chr10:43109065	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376547306	rs_1362164894	3 SubmittersRCV001269685 RCV001880196 RCV004035435
NM_020975.6(RET):c.2137-13A>G	SNV Germline	Chr10:43116571	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA593290060	rs_1314541806	3 SubmittersRCV001289029 RCV002070089
NM_020975.6(RET):c.3148C>T (p.Arg1050Ter)	SNV Germline	Chr10:43126683	Conflicting classifications of pathogenicity	Appendicitis Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376558488	rs_767479170	5 SubmittersRCV001289999 RCV001819981 RCV004035575 RCV006466229
NM_020975.6(RET):c.1467C>G (p.Asp489Glu)	SNV Germline	Chr10:43111410	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376549771	rs_372648203	2 SubmittersRCV001297345 RCV002393699
NM_020975.6(RET):c.1828A>C (p.Asn610His)	SNV Germline	Chr10:43113624	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376552761	rs_1837994023	6 SubmittersRCV001305413 RCV001535690 RCV001824949 RCV002411977
NM_020975.6(RET):c.959C>T (p.Pro320Leu)	SNV Germline	Chr10:43106467	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA376546107	rs_1837779952	3 SubmittersRCV001323360 RCV002384426 RCV003153993
NM_020975.6(RET):c.1821C>T (p.Gly607=)	SNV Germline	Chr10:43113617	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA469027867	rs_1837993502	5 SubmittersRCV001340820 RCV002412070 RCV004531130 RCV005428179
NM_020975.6(RET):c.2412G>A (p.Val804=)	SNV Germline	Chr10:43119550	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039108	rs_767045208	3 SubmittersRCV001337765 RCV002255182
NM_020975.6(RET):c.1522+2T>C	SNV Germline	Chr10:43111467	Likely pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376550063	rs_2132777891	1 SubmittersRCV001376832
NM_020975.6(RET):c.229C>T (p.Arg77Cys)	SNV Germline	Chr10:43100614	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA376770362	rs_1588862595	2 SubmittersRCV001381227 RCV004820198
NM_020975.6(RET):c.318G>A (p.Trp106Ter)	SNV Germline	Chr10:43100703	Pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376770562	rs_2132664999	1 SubmittersRCV001381565
NM_020975.6(RET):c.1203C>T (p.Ser401=)	SNV Germline	Chr10:43109170	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA032133	rs_781623106	3 SubmittersRCV001392680 RCV002350742 RCV002476736
NM_020975.6(RET):c.2349C>T (p.Asn783=)	SNV Germline	Chr10:43118437	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA469028169	rs_1160720188	4 SubmittersRCV001417946 RCV002449136 RCV005428236
NM_020975.6(RET):c.2229C>T (p.Ala743=)	SNV Germline	Chr10:43116676	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469028035	rs_1838077833	3 SubmittersRCV001433121 RCV002432203
NM_020975.6(RET):c.276C>G (p.Thr92=)	SNV Germline	Chr10:43100661	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA469490766	rs_886042820	4 SubmittersRCV001477153 RCV001820174 RCV003298836 RCV006443941
NM_020975.6(RET):c.96G>T (p.Ser32=)	SNV Germline	Chr10:43100481	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA469490328	rs_139821724	3 SubmittersRCV001490144 RCV005271321 RCV005038240
NM_020975.6(RET):c.2137-1G>A	SNV Germline	Chr10:43116583	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA376554099	rs_2132902301	1 SubmittersRCV001561289
NM_020975.6(RET):c.1264-5C>A	SNV Germline	Chr10:43111202	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA927697148	rs_9282835	5 SubmittersRCV001566899 RCV001866004 RCV002414269 RCV002488386
NM_020975.6(RET):c.2801+17C>T	SNV Germline	Chr10:43122033	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2573053273	rs_2132987446	2 SubmittersRCV002074052 RCV003237663
NM_020975.6(RET):c.1232C>G (p.Ser411Cys)	SNV Germline	Chr10:43109199	Conflicting classifications of pathogenicity	Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376547949	rs_2132746693	3 SubmittersRCV001788940 RCV002370319 RCV003533030
NM_020975.6(RET):c.1000T>C (p.Trp334Arg)	SNV Germline	Chr10:43106508	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376546325	rs_2132721114	2 SubmittersRCV002035857 RCV003289381
NM_020975.6(RET):c.1846G>A (p.Glu616Lys)	SNV Germline	Chr10:43113642	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA376552800	rs_1393753095	3 SubmittersRCV001877157 RCV004656696 RCV005040448
NM_020975.6(RET):c.1816T>C (p.Tyr606His)	SNV Germline	Chr10:43113612	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA035744	rs_199921511	4 SubmittersRCV001872471 RCV004039734 RCV004998975 RCV005421043
NM_020975.6(RET):c.74-2A>T	SNV Germline	Chr10:43100457	Likely pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376770028	rs_2132656224	1 SubmittersRCV002010657
NM_020975.6(RET):c.100G>A (p.Asp34Asn)	SNV Germline	Chr10:43100485	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376770087	rs_1837613489	2 SubmittersRCV001934739 RCV005472949
NM_020975.6(RET):c.2427C>A (p.Tyr809Ter)	SNV Germline	Chr10:43119565	Pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376556117	rs_577929869	1 SubmittersRCV001906929
NM_020975.6(RET):c.376T>C (p.Phe126Leu)	SNV Germline	Chr10:43102380	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Ovarian cancer	Criteria Provided Conflicting Classifications	CA376770693	rs_2132678531	2 SubmittersRCV002047968 RCV003154058
NM_020975.6(RET):c.1521A>G (p.Ser507=)	SNV Germline	Chr10:43111464	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA469479464	rs_876660561	3 SubmittersRCV002014761 RCV002388928 RCV004809713
NM_020975.6(RET):c.1315C>T (p.Gln439Ter)	SNV Germline	Chr10:43111258	Pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376548991	rs_2132767341	1 SubmittersRCV002007525
NM_020975.6(RET):c.2479C>G (p.Leu827Val)	SNV Germline	Chr10:43119617	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376556325	rs_1247476725	2 SubmittersRCV001994353 RCV004671590
NM_020975.6(RET):c.867+3G>A	SNV Germline	Chr10:43105196	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2573145090	rs_2132709323	3 SubmittersRCV002041494 RCV002370352
NM_020975.6(RET):c.1414G>A (p.Ala472Thr)	SNV Germline	Chr10:43111357	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376549504	rs_1253227059	2 SubmittersRCV001896925 RCV004042539
NM_020975.6(RET):c.1463C>T (p.Thr488Ile)	SNV Germline	Chr10:43111406	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376549754	rs_1218693745	3 SubmittersRCV002005689 RCV002388985
NM_020975.6(RET):c.1252C>T (p.Arg418Ter)	SNV Germline	Chr10:43109219	Pathogenic	Multiple endocrine neoplasia, type 2 RET-related disorder	Criteria Provided Single Submitter	CA376548067	rs_2132747295	2 SubmittersRCV001908987 RCV004542167
NM_020975.6(RET):c.3040-2A>G	SNV Germline	Chr10:43126573	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376558259	rs_2133032257	2 SubmittersRCV001961621 RCV005271583
NM_020975.6(RET):c.265C>A (p.Gln89Lys)	SNV Germline	Chr10:43100650	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA376770440	rs_2132663101	5 SubmittersRCV001878115 RCV002458735 RCV003442941
NM_020975.6(RET):c.317G>A (p.Trp106Ter)	SNV Germline	Chr10:43100702	Pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376770558	rs_2132664970	1 SubmittersRCV001906653
NM_020975.6(RET):c.124G>T (p.Val42Leu)	SNV Germline	Chr10:43100509	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376770147	rs_2132658120	2 SubmittersRCV001891915 RCV004946812
NM_020975.6(RET):c.1228C>T (p.Leu410Phe)	SNV Germline	Chr10:43109195	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376547930	rs_1588869546	2 SubmittersRCV001937590 RCV002361122
NM_020975.6(RET):c.3187+12C>T	SNV Germline	Chr10:43126734	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA206267867	rs_897706317	3 SubmittersRCV002200386 RCV005238217 RCV005042717
NM_020975.6(RET):c.1880-12C>G	SNV Germline	Chr10:43114468	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA036097	rs_374893494	4 SubmittersRCV002128478 RCV005032177
NM_020975.6(RET):c.1674C>T (p.Cys558=)	SNV Germline	Chr10:43112878	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469027707	rs_2132813703	2 SubmittersRCV002218105 RCV003365682
NM_020975.6(RET):c.2608-5C>G	SNV Germline	Chr10:43120076	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2573145053	rs_2132958072	2 SubmittersRCV002150147 RCV006667206
NM_020975.6(RET):c.1620G>A (p.Arg540=)	SNV Germline	Chr10:43112196	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469027669	rs_776381183	2 SubmittersRCV002158010 RCV004046398
NM_020975.6(RET):c.2393-14C>G	SNV Germline	Chr10:43119517	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA038892	rs_144269978	4 SubmittersRCV002071772 RCV004793734
NM_020975.6(RET):c.1064-4G>T	SNV Germline	Chr10:43109027	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1905810825	rs_1837849469	4 SubmittersRCV002202866 RCV002246670 RCV003161398 RCV004999630
NM_020975.6(RET):c.3188-15T>A	SNV Germline	Chr10:43128097	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA2573145094	rs_1588881831	2 SubmittersRCV002089765
NM_020975.6(RET):c.447C>T (p.Phe149=)	SNV Germline	Chr10:43102451	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA206713305	rs_989787527	2 SubmittersRCV002150272 RCV003161539
NM_020975.6(RET):c.2802-17C>G	SNV Germline	Chr10:43123654	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA2573145062	rs_750812195	2 SubmittersRCV002147889 RCV005032168
NM_020975.6(RET):c.1468C>G (p.Gln490Glu)	SNV Germline	Chr10:43111411	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376549775	rs_1588871393	2 SubmittersRCV002246798 RCV003094041
NM_020975.6(RET):c.1264-6C>T	SNV Germline	Chr10:43111201	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA593289958	rs_1255010070	2 SubmittersRCV002259176 RCV003101401
NM_020975.6(RET):c.1573C>A (p.Arg525=)	SNV Germline	Chr10:43112149	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA469027630	rs_545625150	4 SubmittersRCV002255794 RCV005424830 RCV006553153
NM_020975.6(RET):c.909G>A (p.Val303=)	SNV Germline	Chr10:43106417	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469023605	rs_1478633054	2 SubmittersRCV002256979
NM_020975.6(RET):c.2136+2T>G	SNV Germline	Chr10:43114738	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376553433	rs_2132856009	4 SubmittersRCV002289007 RCV002416555 RCV003645908
NM_020975.6(RET):c.1438G>T (p.Glu480Ter)	SNV Germline	Chr10:43111381	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376549615	rs_537874538	1 SubmittersRCV002289465
NM_020975.6(RET):c.3231C>A (p.Leu1077=)	SNV Germline	Chr10:43128155	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA054825	rs_765409417	3 SubmittersRCV002445543 RCV003102331 RCV004763366
NM_020975.6(RET):c.3171T>C (p.Ile1057=)	SNV Germline	Chr10:43126706	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA469032697	rs_2133037467	2 SubmittersRCV002322642 RCV003232609
NM_020975.6(RET):c.-3G>A	SNV Germline	Chr10:43077256	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA206710331	rs_985601017	4 SubmittersRCV002321170 RCV004005650 RCV004999697
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)	SNV Germline	Chr10:43112868	Likely pathogenic	Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA376551792	rs_2538470328	2 SubmittersRCV002403881 RCV003492764
NM_020975.6(RET):c.1495C>T (p.Gln499Ter)	SNV Germline	Chr10:43111438	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Multiple Submitters No Conflicts	CA376549951	rs_2132776227	2 SubmittersRCV002389791 RCV003095239
NM_020975.6(RET):c.1888T>A (p.Cys630Ser)	SNV Germline	Chr10:43114488	Likely pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA376552896	rs_377767404	1 SubmittersRCV002407971
NM_020975.6(RET):c.1451T>C (p.Met484Thr)	SNV Germline	Chr10:43111394	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA033724	rs_763617146	2 SubmittersRCV002394623 RCV003533227
NM_020975.6(RET):c.1610C>T (p.Pro537Leu)	SNV Germline	Chr10:43112186	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376550689	rs_1490617677	2 SubmittersRCV002400899 RCV003100749
NM_020975.6(RET):c.1968C>T (p.Cys656=)	SNV Germline	Chr10:43114568	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA469479763	rs_2132847951	4 SubmittersRCV002423428 RCV002481085 RCV003645927 RCV005424929
NM_020975.6(RET):c.2393-4C>G	SNV Germline	Chr10:43119527	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039001	rs_768398267	2 SubmittersRCV005098120 RCV002430651
NM_020975.6(RET):c.2493C>T (p.Gly831=)	SNV Germline	Chr10:43119631	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA469479951	rs_1235438710	4 SubmittersRCV002430974 RCV003533261 RCV004765521
NM_020975.6(RET):c.1109T>C (p.Met370Thr)	SNV Germline	Chr10:43109076	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA376547345	rs_886046987	2 SubmittersRCV002428857 RCV006258857
NM_020975.6(RET):c.3031A>T (p.Lys1011Ter)	SNV Germline	Chr10:43124974	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA376558232	rs_368345402	1 SubmittersRCV002438113
NM_020975.6(RET):c.2905C>T (p.Arg969Trp)	SNV Germline	Chr10:43123774	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA376557926	rs_2133006451	1 SubmittersRCV002462599
NM_020975.6(RET):c.1522+1G>A	SNV Germline	Chr10:43111466	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376550056	rs_2132777851	1 SubmittersRCV002472204
NM_020975.6(RET):c.3040-3C>T	SNV Germline	Chr10:43126572	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA593290097	rs_1177729406	3 SubmittersRCV003050908 RCV004948946
NM_020975.6(RET):c.1078C>T (p.Arg360Trp)	SNV Germline	Chr10:43109045	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA376547238	rs_1424549058	2 SubmittersRCV003062255 RCV005059130
NM_020975.6(RET):c.1998G>A (p.Lys666=)	SNV Germline	Chr10:43114598	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469479820	rs_146646971	3 SubmittersRCV003088375 RCV005425053 RCV006721697
NM_020975.6(RET):c.1076A>G (p.Asn359Ser)	SNV Germline	Chr10:43109043	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 RET-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376547229	rs_1204350955	3 SubmittersRCV003086962 RCV004540556 RCV006660502
NM_020975.6(RET):c.1285A>G (p.Asn429Asp)	SNV Germline	Chr10:43111228	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA032862	rs_779625196	2 SubmittersRCV003086499 RCV006721704
NM_020975.6(RET):c.375C>T (p.Val125=)	SNV Germline	Chr10:43102379	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469279153	rs_1800859	2 SubmittersRCV002644129 RCV005724977
NM_020975.6(RET):c.1064-9T>G	SNV Germline	Chr10:43109022	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA927696360	rs_1837849183	2 SubmittersRCV003118330
NM_020975.6(RET):c.1301G>A (p.Ser434Asn)	SNV Germline	Chr10:43111244	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376548944	rs_2132766849	2 SubmittersRCV003112980 RCV005724985
NM_020975.6(RET):c.2111T>A (p.Val704Asp)	SNV Germline	Chr10:43114711	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA037346	rs_770155054	3 SubmittersRCV002590047 RCV004656936 RCV004790222
NM_020975.6(RET):c.366C>T (p.Tyr122=)	SNV Germline	Chr10:43102370	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469279105	rs_2132678154	2 SubmittersRCV002658048 RCV005473205
NM_020975.6(RET):c.1330T>C (p.Ser444Pro)	SNV Germline	Chr10:43111273	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376549044	rs_2132767932	2 SubmittersRCV005714830 RCV002700147
NM_020975.6(RET):c.2906G>A (p.Arg969Gln)	SNV Germline	Chr10:43123775	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Aganglionic megacolon	Criteria Provided Conflicting Classifications	CA376557927	rs_2133006493	4 SubmittersRCV002761246 RCV004067944 RCV006255218
NM_020975.6(RET):c.1001G>A (p.Trp334Ter)	SNV Germline	Chr10:43106509	Pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376546329	rs_2538404690	1 SubmittersRCV002863139
NM_020975.6(RET):c.3141C>T (p.Pro1047=)	SNV Germline	Chr10:43126676	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA042748	rs_372673589	3 SubmittersRCV002894998 RCV003167875 RCV004999822
NM_020975.6(RET):c.1880-5C>T	SNV Germline	Chr10:43114475	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2580081710	rs_1838016447	2 SubmittersRCV003002689 RCV004946119
NM_020975.6(RET):c.2731-5T>C	SNV Germline	Chr10:43121941	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA2580081526	rs_2538595810	3 SubmittersRCV002944263 RCV006660235 RCV005421474
NM_020975.6(RET):c.1622G>A (p.Cys541Tyr)	SNV Germline	Chr10:43112198	Likely pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376550769	rs_2538460738	1 SubmittersRCV003041045
NM_020975.6(RET):c.1759+1G>A	SNV Germline	Chr10:43112964	Pathogenic/Likely pathogenic	RET-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA376552269	rs_2132817885	3 SubmittersRCV004538899 RCV005724990
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)	SNV Germline	Chr10:43120090	Likely pathogenic	Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA376556992	rs_1838178513	2 SubmittersRCV003150912 RCV003274351
NM_020975.6(RET):c.818C>A (p.Pro273His)	SNV Germline	Chr10:43105144	Likely pathogenic	Ovarian cancer	Criteria Provided Single Submitter	CA376545199	rs_2132708181	1 SubmittersRCV003154779
NM_020975.6(RET):c.454A>G (p.Thr152Ala)	SNV Germline	Chr10:43102458	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376770865	rs_1588864028	2 SubmittersRCV003172688 RCV003779602
NM_020975.6(RET):c.1336G>A (p.Gly446Ser)	SNV Germline	Chr10:43111279	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376549061	rs_115423919	2 SubmittersRCV003176491 RCV005100976
NM_020975.6(RET):c.585C>T (p.Phe195=)	SNV Germline	Chr10:43102589	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA469020618	rs_1588864152	2 SubmittersRCV003216324 RCV004999908
NM_020975.6(RET):c.971G>A (p.Trp324Ter)	SNV Germline	Chr10:43106479	Pathogenic	RET-related disorder	Criteria Provided Single Submitter	CA376546160	rs_1278030644	1 SubmittersRCV003335957
NM_020975.6(RET):c.2041C>T (p.Gln681Ter)	SNV Germline	Chr10:43114641	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA376553191	rs_567241943	1 SubmittersRCV003361060
NM_020975.6(RET):c.664G>T (p.Glu222Ter)	SNV Germline	Chr10:43104990	Likely pathogenic	RET-related disorder	Criteria Provided Single Submitter	CA376544428	rs_1837729713	1 SubmittersRCV004531651
NM_020975.6(RET):c.2731-2A>G	SNV Germline	Chr10:43121944	Likely pathogenic	RET-related disorder	Criteria Provided Single Submitter	CA376557379	rs_2132983720	1 SubmittersRCV004534211
NM_020975.6(RET):c.208C>T (p.Gln70Ter)	SNV Germline	Chr10:43100593	Pathogenic	RET-related disorder	Criteria Provided Single Submitter	CA376770313	rs_1465353841	1 SubmittersRCV004529778
NM_020975.6(RET):c.712G>C (p.Glu238Gln)	SNV Germline	Chr10:43105038	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376544688	rs_1588866040	2 SubmittersRCV003463505 RCV006664037
NM_020975.6(RET):c.255G>A (p.Trp85Ter)	SNV Germline	Chr10:43100640	Pathogenic	Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA376770417	rs_2132662772	1 SubmittersRCV003533956
NM_020975.6(RET):c.444C>T (p.Ser148=)	SNV Germline	Chr10:43102448	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469279451	rs_1554817550	2 SubmittersRCV003534004 RCV004673906

NM_020975.6(RET):c.1852T>G (p.Cys618Gly)

SNV
Germline

Chr10:43113648

Pathogenic

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Condition: not provided
6 conditions
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007995

rs_76262710

15 SubmittersRCV000014919 RCV000228834 RCV000522833 RCV000762807 RCV002408462 RCV002470710 RCV004760333

NM_020975.6(RET):c.1900T>G (p.Cys634Gly)

SNV
Germline

Chr10:43114500

Pathogenic

Pheochromocytoma
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
MEN2 phenotype: Unclassified

Criteria Provided
Multiple Submitters
No Conflicts

CA008324

rs_75076352

11 SubmittersRCV000014923 RCV000014922 RCV000182581 RCV000654584 RCV001013616 RCV001310209 RCV001420921

NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)

SNV
Germline

Chr10:43114501

Pathogenic

Pheochromocytoma
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
RET-related disorder
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008348

rs_75996173

26 SubmittersRCV000014925 RCV000014924 RCV000129490 RCV000182582 RCV000425364 RCV000476408 RCV003989285 RCV004739307 RCV005394154

NM_020975.6(RET):c.1901G>C (p.Cys634Ser)

SNV
Germline

Chr10:43114501

Pathogenic

Multiple endocrine neoplasia type 2A
Pheochromocytoma
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008361

rs_75996173

5 SubmittersRCV000014926 RCV000014927 RCV000021824 RCV001262460 RCV002251730 RCV004668731

NM_020975.6(RET):c.1901G>T (p.Cys634Phe)

SNV
Germline

Chr10:43114501

Pathogenic

Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008370

rs_75996173

7 SubmittersRCV000014930 RCV000014928 RCV000014929 RCV000471652 RCV002408463 RCV003237413

NM_020975.6(RET):c.1833C>G (p.Cys611Trp)

SNV
Germline

Chr10:43113629

Pathogenic

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA007954

rs_80069458

2 SubmittersRCV000014932 RCV002513055

NM_020975.6(RET):c.1853G>C (p.Cys618Ser)

SNV
Germline

Chr10:43113649

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008013

rs_79781594

16 SubmittersRCV000014934 RCV000014933 RCV000082050 RCV000161938 RCV001013348

NM_020975.6(RET):c.1858T>C (p.Cys620Arg)

SNV
Germline

Chr10:43113654

Pathogenic

Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Aganglionic megacolon
Aganglionic megacolon
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008055

rs_77316810

16 SubmittersRCV000014935 RCV000182580 RCV000232285 RCV000568259 RCV000736276 RCV000826204 RCV003324711

NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)

SNV
Germline

Chr10:43113655

Pathogenic

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Condition: not provided
Aganglionic megacolon
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008076

rs_77503355

10 SubmittersRCV000014936 RCV000021801 RCV000413879 RCV000678747 RCV002408464 RCV005394155

NM_020975.6(RET):c.1900T>C (p.Cys634Arg)

SNV
Germline

Chr10:43114500

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia type 2A
Pheochromocytoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Thyroid gland carcinoma
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008315

rs_75076352

25 SubmittersRCV000014937 RCV000014938 RCV000082051 RCV000163338 RCV000552504 RCV000677899 RCV004795411 RCV003460479 RCV004739308

NM_020975.6(RET):c.1902C>G (p.Cys634Trp)

SNV
Germline

Chr10:43114502

Pathogenic

Multiple endocrine neoplasia type 2A
Pheochromocytoma
Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008378

rs_77709286

8 SubmittersRCV000014939 RCV000014940 RCV000405235 RCV000459040 RCV001013621

NM_020975.6(RET):c.2753T>C (p.Met918Thr)

SNV
Germline/somatic

Chr10:43121968

Pathogenic/Likely pathogenic

Thyroid carcinoma, sporadic medullary
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Condition: not provided
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
8 conditions
Medullary thyroid carcinoma
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
RET-related disorder
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
See cases
Inherited phaeochromocytoma and paraganglioma excluding NF1

Criteria Provided
Multiple Submitters
No Conflicts

CA009082

rs_74799832

44 SubmittersRCV000014942 RCV000014943 RCV000014941 RCV000082054 RCV000175096 RCV000161926 RCV000415312 RCV000417859 RCV001292662 RCV001542764 RCV002255998 RCV004532351 RCV005394156 RCV005887525 RCV005865181

NM_020975.6(RET):c.2690G>A (p.Arg897Gln)

SNV
Germline

Chr10:43120163

Pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA009008

rs_76087194

2 SubmittersRCV000014946

NM_020975.6(RET):c.2914A>G (p.Arg972Gly)

SNV
Germline

Chr10:43123783

Likely pathogenic

Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma

Criteria Provided
Single Submitter

CA009130

rs_76534745

2 SubmittersRCV000014947 RCV005042054

NM_020975.6(RET):c.95C>T (p.Ser32Leu)

SNV
Germline

Chr10:43100480

Likely pathogenic

Hirschsprung disease, susceptibility to, 1
Aganglionic megacolon
Multiple endocrine neoplasia, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA009398

rs_76764689

4 SubmittersRCV000014948 RCV000678742 RCV002514098

NM_020975.6(RET):c.538C>T (p.Arg180Ter)

SNV
Germline

Chr10:43102542

Pathogenic

Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia, type 2
RET-related disorder

Criteria Provided
Single Submitter

CA009273

rs_76449634

3 SubmittersRCV000014950 RCV001206325 RCV004528111

NM_020975.6(RET):c.989G>A (p.Arg330Gln)

SNV
Germline

Chr10:43106497

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia, type 2
Condition: not provided
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009415

rs_80236571

7 SubmittersRCV000014951 RCV001379274 RCV004696636 RCV005394157 RCV006277647

NM_020975.6(RET):c.1859G>T (p.Cys620Phe)

SNV
Germline

Chr10:43113655

Pathogenic

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008094

rs_77503355

16 SubmittersRCV000014953 RCV000233944 RCV000411165 RCV000485714 RCV002255999 RCV005394158

NM_020975.6(RET):c.1852T>C (p.Cys618Arg)

SNV
Germline

Chr10:43113648

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007985

rs_76262710

13 SubmittersRCV000014954 RCV000021792 RCV000114391 RCV000427260 RCV000345209 RCV002256000

NM_020975.6(RET):c.2304G>C (p.Glu768Asp)

SNV
Germline

Chr10:43118392

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008641

rs_78014899

9 SubmittersRCV000014956 RCV000021842 RCV001015022 RCV001811141 RCV002280861

NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)

SNV
Germline

Chr10:43113622

Pathogenic

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
Condition: not provided
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Familial medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA007824

rs_77939446

20 SubmittersRCV000014958 RCV000082049 RCV000173889 RCV000168107 RCV000496009 RCV000562113 RCV000509116 RCV003460480 RCV004532352

NM_020975.6(RET):c.1860C>G (p.Cys620Trp)

SNV
Germline

Chr10:43113656

Pathogenic

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008105

rs_79890926

4 SubmittersRCV000014959 RCV000021789 RCV000566125 RCV002272020

NM_020975.6(RET):c.2370G>C (p.Leu790Phe)

SNV
Germline

Chr10:43118458

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008702

rs_75030001

9 SubmittersRCV000014960 RCV000014961 RCV000182583 RCV000021849 RCV002453262

NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)

SNV
Germline

Chr10:43118460

Conflicting classifications of pathogenicity

Familial medullary thyroid carcinoma
Pheochromocytoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Aganglionic megacolon
not specified
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial cancer of breast
Multiple endocrine neoplasia, type 2
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA008726

rs_77724903

27 SubmittersRCV000014962 RCV000014963 RCV000034771 RCV000130367 RCV000148769 RCV000235206 RCV000312825 RCV000370653 RCV000400976 RCV000436831 RCV000431156 RCV000754613 RCV001083710 RCV005394159

NM_020975.6(RET):c.2944C>T (p.Arg982Cys)

SNV
Germline

Chr10:43124887

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia
Familial medullary thyroid carcinoma
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Aganglionic megacolon
Multiple endocrine neoplasia, type 2
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA009143

rs_17158558

34 SubmittersRCV000014965 RCV000034774 RCV000082055 RCV000162949 RCV000202663 RCV000238890 RCV000354936 RCV000410308 RCV000320112 RCV000411820 RCV000736279 RCV001080524 RCV001269493 RCV001822995 RCV005394160

NM_020975.6(RET):c.1941C>T (p.Ile647=)

SNV
Germline

Chr10:43114541

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
not specified

Criteria Provided
Conflicting Classifications

CA008451

rs_75225191

10 SubmittersRCV000014966 RCV000220871 RCV000519499 RCV000988344 RCV001085461 RCV005434602

NM_020975.6(RET):c.1919C>G (p.Ala640Gly)

SNV
Germline

Chr10:43114519

Pathogenic

Multiple endocrine neoplasia type 2A

No Assertion Criteria Provided

CA008417

rs_78935588

1 SubmittersRCV000014969

NM_020975.6(RET):c.1859G>C (p.Cys620Ser)

SNV
Germline

Chr10:43113655

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
MEN2 phenotype: Unclassified
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA008085

rs_77503355

10 SubmittersRCV000014970 RCV000021802 RCV000489707 RCV001013426 RCV004782015 RCV004018626

NM_020975.6(RET):c.1825T>C (p.Cys609Arg)

SNV
Germline

Chr10:43113621

Pathogenic

Familial medullary thyroid carcinoma
Condition: not provided
Aganglionic megacolon
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
RET-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA007804

rs_77558292

9 SubmittersRCV000014971 RCV000414355 RCV000736274 RCV001013275 RCV001851862 RCV004724742

NM_020975.6(RET):c.2410G>A (p.Val804Met)

SNV
Germline

Chr10:43119548

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
7 conditions
MEN2 phenotype: Unclassified
Familial medullary thyroid carcinoma
Ovarian cancer
Hirschsprung disease, susceptibility to, 1
RET-related disorder
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Inherited phaeochromocytoma and paraganglioma excluding NF1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008751

rs_79658334

50 SubmittersRCV000148773 RCV000182584 RCV000210181 RCV000499191 RCV000515232 RCV000586783 RCV001804750 RCV003153308 RCV003460494 RCV004528141 RCV004795938 RCV005865197 RCV006635423 RCV006697411

NM_020975.6(RET):c.2410G>T (p.Val804Leu)

SNV
Germline

Chr10:43119548

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Condition: not provided
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA008766

rs_79658334

19 SubmittersRCV000014973 RCV000021854 RCV000354366 RCV000487450 RCV000596480 RCV000561258 RCV005394161 RCV006445467

NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)

SNV
Germline

Chr10:43126651

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 1
Aganglionic megacolon
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009200

rs_79853121

10 SubmittersRCV000014975 RCV000148783 RCV000410425 RCV000411688 RCV000563865 RCV000704911 RCV002490367 RCV003398513 RCV005089259

NM_020975.6(RET):c.1942G>A (p.Val648Ile)

SNV
Germline

Chr10:43114542

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA008459

rs_77711105

15 SubmittersRCV000014976 RCV000034767 RCV000163319 RCV000442648 RCV001082776

NM_020975.6(RET):c.1597G>T (p.Gly533Cys)

SNV
Germline

Chr10:43112173

Pathogenic

Familial medullary thyroid carcinoma
Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA007675

rs_75873440

8 SubmittersRCV000014977 RCV000182579 RCV000469127 RCV001012358 RCV003335040

NM_020975.6(RET):c.2671T>G (p.Ser891Ala)

SNV
Germline

Chr10:43120144

Pathogenic

Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Condition: not provided
Hereditary cancer-predisposing syndrome
MEN2 phenotype: Unclassified
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Medullary thyroid carcinoma
Multiple endocrine neoplasia II
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008989

rs_75234356

27 SubmittersRCV000014978 RCV000014979 RCV000227193 RCV000425892 RCV000394478 RCV001016276 RCV001804732 RCV002490368 RCV003387503 RCV004566743 RCV004724743

NM_020975.6(RET):c.2332G>A (p.Val778Ile)

SNV
Germline

Chr10:43118420

Conflicting classifications of pathogenicity

Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia

Criteria Provided
Conflicting Classifications

CA008677

rs_75686697

5 SubmittersRCV000014983 RCV000206045 RCV000562190 RCV001105833 RCV001108067 RCV001105834

NM_020975.6(RET):c.874G>A (p.Val292Met)

SNV
Germline

Chr10:43106382

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 2
Hereditary cancer
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA009374

rs_34682185

18 SubmittersRCV000034779 RCV000121992 RCV000276548 RCV000333869 RCV000354891 RCV000367517 RCV000565970 RCV000755685 RCV001083006 RCV003492298 RCV005425702

NM_020975.6(RET):c.961G>A (p.Gly321Arg)

SNV
Germline

Chr10:43106469

Conflicting classifications of pathogenicity

Medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2A
not specified
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Conflicting Classifications

CA009403

rs_377767388

13 SubmittersRCV000148776 RCV000231209 RCV000567555 RCV000679758 RCV000709104 RCV001818171 RCV003460487 RCV004528128

NM_020975.6(RET):c.1529C>T (p.Ala510Val)

SNV
Germline

Chr10:43112105

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
RET-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA007606

rs_201745826

11 SubmittersRCV000166168 RCV000679718 RCV000709114 RCV001083604 RCV004528129 RCV006273064

NM_020975.6(RET):c.1531G>A (p.Glu511Lys)

SNV
Germline

Chr10:43112107

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
RET-related disorder

Criteria Provided
Conflicting Classifications

CA007615

rs_201553718

18 SubmittersRCV000123299 RCV000148777 RCV000410289 RCV000411825 RCV000454639 RCV000561335 RCV001310920 RCV004532394

NM_020975.6(RET):c.1591T>C (p.Cys531Arg)

SNV
Germline

Chr10:43112167

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007653

rs_377767390

3 SubmittersRCV000021766 RCV002399332 RCV004700263

NM_020975.6(RET):c.1597G>A (p.Gly533Ser)

SNV
Germline

Chr10:43112173

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Condition: not provided
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA007667

rs_75873440

12 SubmittersRCV000411509 RCV000409959 RCV000465806 RCV000573056 RCV001102551 RCV001102550 RCV001107801 RCV001107802 RCV004791232 RCV005394170

NM_020975.6(RET):c.1817A>G (p.Tyr606Cys)

SNV
Germline

Chr10:43113613

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA007781

rs_377767395

2 SubmittersRCV001013292 RCV003531905

NM_020975.6(RET):c.1825T>G (p.Cys609Gly)

SNV
Germline

Chr10:43113621

Pathogenic

Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_77558292

2 SubmittersRCV004589374 RCV004950822

NM_020975.6(RET):c.1827C>G (p.Cys609Trp)

SNV
Germline

Chr10:43113623

Pathogenic/Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007855

rs_377767396

3 SubmittersRCV003219010 RCV005101401 RCV006292350

NM_020975.6(RET):c.1831T>C (p.Cys611Arg)

SNV
Germline

Chr10:43113627

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 2
Aganglionic megacolon
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA007873

rs_377767391

6 SubmittersRCV000021782 RCV000736275 RCV004018655 RCV005415547 RCV005425703

NM_020975.6(RET):c.1831T>G (p.Cys611Gly)

SNV
Germline

Chr10:43113627

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007883

rs_377767391

2 SubmittersRCV000506649

NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)

SNV
Germline

Chr10:43113628

Pathogenic

Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
MEN2 phenotype: Unclassified
Keratoconus 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA007934

rs_377767397

15 SubmittersRCV000021784 RCV000412987 RCV000565237 RCV005237400 RCV006700153 RCV006735789

NM_020975.6(RET):c.1832G>T (p.Cys611Phe)

SNV
Germline

Chr10:43113628

Pathogenic

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA007949

rs_377767397

4 SubmittersRCV000021787 RCV002408472 RCV003233027

NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)

SNV
Germline

Chr10:43113649

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA008005

rs_79781594

7 SubmittersRCV000163667 RCV000475953 RCV001565486 RCV005409607

NM_020975.6(RET):c.1853G>T (p.Cys618Phe)

SNV
Germline

Chr10:43113649

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA008022

rs_79781594

5 SubmittersRCV000255102 RCV000548660 RCV000571381 RCV004018656

NM_020975.6(RET):c.1858T>G (p.Cys620Gly)

SNV
Germline

Chr10:43113654

Pathogenic

not specified
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Aganglionic megacolon
Condition: not provided
Multiple endocrine neoplasia, type 2
RET-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008066

rs_77316810

9 SubmittersRCV000507202 RCV000575015 RCV000709757 RCV000824755 RCV001703419 RCV002513160 RCV004724753

NM_020975.6(RET):c.1867G>A (p.Glu623Lys)

SNV
Germline

Chr10:43113663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Condition: not provided
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA008114

rs_377767402

8 SubmittersRCV000575097 RCV000988343 RCV001369787 RCV001762053 RCV005031447

NM_020975.6(RET):c.1888T>C (p.Cys630Arg)

SNV
Germline

Chr10:43114488

Pathogenic

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008145

rs_377767404

3 SubmittersRCV000654593 RCV004943733

NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)

SNV
Germline

Chr10:43114489

Pathogenic

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008154

rs_377767405

5 SubmittersRCV000021807 RCV002408473 RCV003315507 RCV004791233

NM_020975.6(RET):c.1889G>C (p.Cys630Ser)

SNV
Germline

Chr10:43114489

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

rs_377767405

1 SubmittersRCV005479231

NM_020975.6(RET):c.1891G>A (p.Asp631Asn)

SNV
Germline

Chr10:43114491

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
not specified
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA008190

rs_377767406

10 SubmittersRCV000519407 RCV000564566 RCV000696792 RCV001818172 RCV002477000 RCV003460488 RCV004786279

NM_020975.6(RET):c.1891G>T (p.Asp631Tyr)

SNV
Germline

Chr10:43114491

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA008198

rs_377767406

4 SubmittersRCV000219970 RCV002513161 RCV004724754 RCV005420517

NM_020975.6(RET):c.1892A>T (p.Asp631Val)

SNV
Germline

Chr10:43114492

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008228

rs_121913308

2 SubmittersRCV001362386 RCV006649850

NM_020975.6(RET):c.1894G>A (p.Glu632Lys)

SNV
Germline

Chr10:43114494

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA008256

rs_377767407

15 SubmittersRCV000411403 RCV000409907 RCV000526155 RCV000708754 RCV001811195 RCV005031448

NM_020975.6(RET):c.1946C>T (p.Ser649Leu)

SNV
Germline

Chr10:43114546

Conflicting classifications of pathogenicity

not specified
Elevated basal serum calcitonin
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Appendicitis

Criteria Provided
Conflicting Classifications

CA008470

rs_148935214

23 SubmittersRCV000121978 RCV000148770 RCV000163375 RCV000224141 RCV000663272 RCV001082257 RCV001104573 RCV001104575 RCV001104572 RCV001104574 RCV001533539

NM_020975.6(RET):c.1947G>A (p.Ser649=)

SNV
Germline

Chr10:43114547

Pathogenic/Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 2
6 conditions
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008487

rs_377767412

6 SubmittersRCV000498649 RCV000821103 RCV000762808 RCV001353180 RCV002408474

NM_020975.6(RET):c.1996A>G (p.Lys666Glu)

SNV
Germline

Chr10:43114596

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 2
Medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA008502

rs_143795581

15 SubmittersRCV000021838 RCV000148771 RCV000567780 RCV001582493 RCV002496436 RCV002466411 RCV004018657

NM_020975.6(RET):c.1998G>T (p.Lys666Asn)

SNV
Germline

Chr10:43114598

Pathogenic/Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia, type 2
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
RET-related disorder
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Familial medullary thyroid carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008525

rs_146646971

21 SubmittersRCV000082052 RCV000174156 RCV000467461 RCV000570730 RCV001027731 RCV001535750 RCV001818173 RCV002477001 RCV003335051 RCV003460489 RCV003458339

NM_020975.6(RET):c.2071G>A (p.Gly691Ser)

SNV
Germline

Chr10:43114671

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Malignant lymphoma, large B-cell, diffuse
Prostate neoplasm
Uterine carcinosarcoma

Criteria Provided
Conflicting Classifications

CA008562

rs_1799939

26 SubmittersRCV000034769 RCV000039052 RCV000162947 RCV000290703 RCV000385080 RCV000340996 RCV000376859 RCV000660243 RCV001083339 RCV003315508 RCV005888634 RCV005628136 RCV005888635

NM_020975.6(RET):c.2342A>G (p.Gln781Arg)

SNV
Germline

Chr10:43118430

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA008687

rs_377767416

6 SubmittersRCV000232536 RCV002444437 RCV002477002 RCV003321484 RCV003492299

NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)

SNV
Germline

Chr10:43118459

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
6 conditions
not specified
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA008719

rs_377767417

11 SubmittersRCV000409436 RCV000411890 RCV000457504 RCV000566113 RCV000764900 RCV001818174 RCV003466868 RCV005042080

NM_020975.6(RET):c.2452G>A (p.Glu818Lys)

SNV
Germline

Chr10:43119590

Conflicting classifications of pathogenicity

Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA008797

rs_377767420

9 SubmittersRCV000148782 RCV000410539 RCV000411157 RCV000571277 RCV000799360 RCV002490401 RCV003460490

NM_020975.6(RET):c.2497C>T (p.Arg833Cys)

SNV
Germline

Chr10:43119635

Conflicting classifications of pathogenicity

Condition: not provided
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
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA008813

rs_377767422

9 SubmittersRCV000478761 RCV000529442 RCV000567481 RCV000662806 RCV004566753 RCV005031449

NM_020975.6(RET):c.2522C>T (p.Pro841Leu)

SNV
Germline

Chr10:43119660

Conflicting classifications of pathogenicity

Aganglionic megacolon
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
not specified
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA008837

rs_149891333

12 SubmittersRCV000148778 RCV000575365 RCV000691895 RCV000662511 RCV000782197 RCV001535741 RCV001818175 RCV002477003

NM_020975.6(RET):c.2531G>A (p.Arg844Gln)

SNV
Germline

Chr10:43119669

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Condition: not provided
Hirschsprung disease, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA008877

rs_55947360

13 SubmittersRCV000205855 RCV000575953 RCV000662363 RCV001292765 RCV001574570 RCV003466869 RCV006700678

NM_020975.6(RET):c.2556C>G (p.Ile852Met)

SNV
Germline

Chr10:43119694

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Condition: not provided
not specified
Hirschsprung disease, susceptibility to, 1
RET-related disorder
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA008919

rs_377767426

20 SubmittersRCV000204335 RCV000566408 RCV000662415 RCV000755693 RCV001354419 RCV001818176 RCV003466870 RCV004532395 RCV005031450

NM_020975.6(RET):c.2656C>T (p.Arg886Trp)

SNV
Germline/somatic

Chr10:43120129

Conflicting classifications of pathogenicity

Medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Condition: not provided
Renal hypoplasia/aplasia
Hereditary cancer-predisposing syndrome
Hereditary cancer
Medulloblastoma non-WNT/non-SHH

Criteria Provided
Conflicting Classifications

CA008982

rs_146838520

9 SubmittersRCV000148785 RCV000654561 RCV000679734 RCV001281276 RCV002453266 RCV005600620 RCV006253679

NM_020975.6(RET):c.2711C>T (p.Ser904Phe)

SNV
Germline

Chr10:43120184

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009027

rs_267607011

3 SubmittersRCV000757722 RCV001267835 RCV005268549

NM_020975.6(RET):c.2765C>A (p.Ser922Tyr)

SNV
Germline

Chr10:43121980

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA009087

rs_377767432

3 SubmittersRCV000988348 RCV002433465 RCV003764617

NM_020975.6(RET):c.1897C>G (p.Leu633Val)

SNV
Germline

Chr10:43114497

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Condition: not provided
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA008295

rs_267607010

7 SubmittersRCV000196130 RCV000410079 RCV000411153 RCV002478712 RCV002503784 RCV003165476

NM_020975.6(RET):c.166C>A (p.Leu56Met)

SNV
Germline

Chr10:43100551

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Condition: not provided
not specified
Aganglionic megacolon
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia
Pheochromocytoma
Multiple endocrine neoplasia, type 2
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA007702

rs_145633958

30 SubmittersRCV000030402 RCV000034766 RCV000121985 RCV000148768 RCV000163266 RCV000202649 RCV001108850 RCV001082759 RCV001108849 RCV001108851 RCV005394176

NM_020975.6(RET):c.1880-2A>G

SNV
Germline

Chr10:43114478

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA008131

rs_193922699

1 SubmittersRCV000030404

NM_020975.6(RET):c.2080C>T (p.Arg694Trp)

SNV
Germline

Chr10:43114680

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
not specified
RET-related disorder

Criteria Provided
Conflicting Classifications

CA008572

rs_193922700

9 SubmittersRCV000030406 RCV000698016 RCV000708755 RCV000770758 RCV004528140

NM_020975.6(RET):c.1826G>T (p.Cys609Phe)

SNV
Germline

Chr10:43113622

Pathogenic

not specified
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007843

rs_77939446

4 SubmittersRCV000506587 RCV000533887 RCV002408486 RCV005243105

NM_020975.6(RET):c.1013C>T (p.Thr338Ile)

SNV
Germline

Chr10:43106521

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B

Criteria Provided
Conflicting Classifications

CA007399

rs_377767433

10 SubmittersRCV000570795 RCV000709106 RCV001046577 RCV001262456 RCV004566792 RCV004700294 RCV005042101

NM_020975.6(RET):c.1826G>C (p.Cys609Ser)

SNV
Germline

Chr10:43113622

Pathogenic

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA007834

rs_77939446

4 SubmittersRCV001908064 RCV002258320 RCV003316853

NM_020975.6(RET):c.1831T>A (p.Cys611Ser)

SNV
Germline

Chr10:43113627

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA007864

rs_377767391

3 SubmittersRCV002412658 RCV003481306 RCV003533237

NM_020975.6(RET):c.1852T>A (p.Cys618Ser)

SNV
Germline

Chr10:43113648

Pathogenic

Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
RET-related disorder
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007974

rs_76262710

9 SubmittersRCV000032040 RCV000182594 RCV000569893 RCV003233028 RCV004532475 RCV004820824

NM_020975.6(RET):c.1858T>A (p.Cys620Ser)

SNV
Germline

Chr10:43113654

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008047

rs_77316810

4 SubmittersRCV000021798 RCV002408487

NM_020975.6(RET):c.1900T>A (p.Cys634Ser)

SNV
Germline

Chr10:43114500

Pathogenic

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008307

rs_75076352

4 SubmittersRCV000021820 RCV002408488 RCV006698006

NM_020975.6(RET):c.2304G>T (p.Glu768Asp)

SNV
Germline

Chr10:43118392

Pathogenic

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
MEN2 phenotype: Unclassified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008648

rs_78014899

6 SubmittersRCV000032037 RCV000410061 RCV000411546 RCV002307370 RCV002426530 RCV004998127

NM_020975.6(RET):c.2370G>T (p.Leu790Phe)

SNV
Germline

Chr10:43118458

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
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

Criteria Provided
Multiple Submitters
No Conflicts

CA008709

rs_75030001

28 SubmittersRCV000163610 RCV000339507 RCV000539138 RCV000709758 RCV000984325 RCV003466882 RCV003483444 RCV006605201

NM_020975.6(RET):c.2410G>C (p.Val804Leu)

SNV
Germline

Chr10:43119548

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Condition: not provided
Hereditary cancer-predisposing syndrome
MEN2 phenotype: Unclassified

Criteria Provided
Multiple Submitters
No Conflicts

CA008758

rs_79658334

11 SubmittersRCV000021853 RCV000426266 RCV000479688 RCV002453279 RCV003226171

NM_020975.6(RET):c.2752A>G (p.Met918Val)

SNV
Germline

Chr10:43121967

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009073

rs_377767442

11 SubmittersRCV000032039 RCV002433481 RCV003315527 RCV003318546

NM_020975.6(RET):c.2611G>A (p.Val871Ile)

SNV
Germline

Chr10:43120084

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Hereditary cancer-predisposing syndrome
6 conditions
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA008940

rs_145170911

15 SubmittersRCV000034773 RCV000123312 RCV000410572 RCV000409480 RCV000562304 RCV000763649 RCV002477060 RCV003387739

NM_020975.6(RET):c.2982A>C (p.Lys994Asn)

SNV
Germline

Chr10:43124925

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA009156

rs_199718928

11 SubmittersRCV000034775 RCV000411986 RCV000409131 RCV000458385 RCV000568654 RCV001104858 RCV001104857 RCV001104859 RCV001104860 RCV002477061

NM_020975.6(RET):c.785T>C (p.Val262Ala)

SNV
Germline

Chr10:43105111

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Aganglionic megacolon
not specified
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Malignant tumor of breast
RET-related disorder

Criteria Provided
Conflicting Classifications

CA009350

rs_139790943

20 SubmittersRCV000034777 RCV000123327 RCV000148775 RCV000223157 RCV000573525 RCV000663296 RCV001103898 RCV001104177 RCV001103896 RCV001103897 RCV001269367 RCV004528165

NM_020975.6(RET):c.3057G>A (p.Ala1019=)

SNV
Germline

Chr10:43126592

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
not specified
RET-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009183

rs_369579749

10 SubmittersRCV000119177 RCV000410440 RCV000411953 RCV000574003 RCV000613685 RCV004542866 RCV004567032

NM_020975.6(RET):c.1702G>A (p.Gly568Ser)

SNV
Germline

Chr10:43112906

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA007718

rs_140464432

10 SubmittersRCV000119225 RCV000355156 RCV000564831 RCV000662493 RCV002477302

NM_020975.6(RET):c.2261C>T (p.Thr754Met)

SNV
Germline

Chr10:43116708

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA008622

rs_181856591

13 SubmittersRCV000121979 RCV000202914 RCV000410377 RCV000411486 RCV000462996 RCV000573705 RCV002492438 RCV003151746 RCV003460858 RCV004771463

NM_020975.6(RET):c.2348A>C (p.Asn783Thr)

SNV
Germline

Chr10:43118436

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1
RET-related disorder
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA008694

rs_587778656

13 SubmittersRCV000121980 RCV000412123 RCV000410090 RCV000540063 RCV000561957 RCV000724767 RCV003460859 RCV004530033 RCV005031629

NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)

SNV
Germline

Chr10:43126720

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA009211

rs_587778659

11 SubmittersRCV000121983 RCV000409698 RCV000412388 RCV000532140 RCV001577914 RCV002321601 RCV003460860 RCV005049424

NM_020975.6(RET):c.304G>A (p.Asp102Asn)

SNV
Germline

Chr10:43100689

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
RET-related disorder

Criteria Provided
Conflicting Classifications

CA009176

rs_201244749

6 SubmittersRCV000121987 RCV000554385 RCV000567241 RCV002483229 RCV004528836

NM_020975.6(RET):c.488G>A (p.Arg163Gln)

SNV
Germline

Chr10:43102492

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009263

rs_149403911

6 SubmittersRCV000121989 RCV000795345 RCV002483230 RCV002336267

NM_020975.6(RET):c.1157C>T (p.Ala386Val)

SNV
Germline

Chr10:43109124

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 2
RET-related disorder

Criteria Provided
Conflicting Classifications

CA007451

rs_115272158

11 SubmittersRCV000121993 RCV000163314 RCV000726085 RCV001079718 RCV004542915

NM_020975.6(RET):c.1424G>A (p.Arg475Gln)

SNV
Germline

Chr10:43111367

Conflicting classifications of pathogenicity

not specified
Aganglionic megacolon
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007571

rs_138624658

9 SubmittersRCV000121995 RCV000148779 RCV000470554 RCV001011481 RCV005031630 RCV004567054 RCV004589591

NM_020975.6(RET):c.1438G>A (p.Glu480Lys)

SNV
Germline

Chr10:43111381

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007585

rs_537874538

9 SubmittersRCV000121996 RCV000409013 RCV000461515 RCV000410596 RCV000570658 RCV000758696 RCV001650985

NM_020975.6(RET):c.1573C>T (p.Arg525Trp)

SNV
Germline

Chr10:43112149

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
RET-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007640

rs_545625150

8 SubmittersRCV000121998 RCV000166496 RCV000476004 RCV002492439 RCV004528837 RCV004719703

NM_020975.6(RET):c.1095G>A (p.Ser365=)

SNV
Germline

Chr10:43109062

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Condition: not provided
Melanoma

Criteria Provided
Conflicting Classifications

CA007433

rs_201992974

7 SubmittersRCV000123289 RCV000410870 RCV000412429 RCV000570175 RCV006270347 RCV005890501

NM_020975.6(RET):c.1158G>A (p.Ala386=)

SNV
Germline

Chr10:43109125

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Renal hypodysplasia/aplasia 1

Criteria Provided
Conflicting Classifications

CA007461

rs_373540097

10 SubmittersRCV000123291 RCV000162962 RCV000610981 RCV000988342 RCV001082022 RCV001104295 RCV001104294 RCV001104296 RCV001107047

NM_020975.6(RET):c.1344C>G (p.Asn448Lys)

SNV
Germline

Chr10:43111287

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Pilocytic astrocytoma
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Conflicting Classifications

CA007539

rs_549907428

11 SubmittersRCV000123295 RCV000572664 RCV000761174 RCV002466439 RCV002483237 RCV003460874 RCV004530053

NM_020975.6(RET):c.1642G>A (p.Gly548Ser)

SNV
Germline

Chr10:43112218

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
RET-related disorder
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA007695

rs_374461212

12 SubmittersRCV000123300 RCV000662401 RCV001012544 RCV001762280 RCV002483238 RCV004542930 RCV004567066

NM_020975.6(RET):c.1699G>A (p.Asp567Asn)

SNV
Germline

Chr10:43112903

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
RET-related disorder

Criteria Provided
Conflicting Classifications

CA007711

rs_147219360

17 SubmittersRCV000163453 RCV000455280 RCV000727068 RCV001081705 RCV001104479 RCV001104478 RCV001107242 RCV001107243 RCV002272134 RCV003153409 RCV004542931

NM_020975.6(RET):c.1920C>T (p.Ala640=)

SNV
Germline

Chr10:43114520

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
RET-related disorder
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA008434

rs_149768519

8 SubmittersRCV000123303 RCV000562785 RCV001102661 RCV001102662 RCV001104571 RCV001104570 RCV004530055 RCV005394456 RCV005425732

NM_020975.6(RET):c.2166G>T (p.Lys722Asn)

SNV
Germline

Chr10:43116613

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA008592

rs_527726480

8 SubmittersRCV000123307 RCV000562548 RCV002483239 RCV003159099 RCV003467095 RCV003492551

NM_020975.6(RET):c.2199C>T (p.Gly733=)

SNV
Germline

Chr10:43116646

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA008595

rs_587780809

5 SubmittersRCV000123308 RCV001014747 RCV005042239

NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)

SNV
Germline

Chr10:43126647

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Ewing sarcoma of soft tissue
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia, type 2
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Multiple endocrine neoplasia
not specified
RET-related disorder

Criteria Provided
Conflicting Classifications

CA009187

rs_201740483

20 SubmittersRCV000163463 RCV000663277 RCV000761007 RCV000679744 RCV001108238 RCV001083486 RCV001106025 RCV001106024 RCV001108239 RCV001818296 RCV004528841

NM_020975.6(RET):c.3243T>C (p.Asp1081=)

SNV
Germline

Chr10:43128167

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Multiple endocrine neoplasia
not specified

Criteria Provided
Conflicting Classifications

CA010921

rs_144192900

6 SubmittersRCV000123320 RCV000412402 RCV000410847 RCV000570968 RCV001103047 RCV001103048 RCV001108244 RCV001108245 RCV005237562

NM_020975.6(RET):c.3326T>C (p.Met1109Thr)

SNV
Germline

Chr10:43128250

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA010962

rs_587780813

8 SubmittersRCV000123321 RCV000573076 RCV000679747 RCV003460875

NM_020975.6(RET):c.335G>A (p.Arg112His)

SNV
Germline

Chr10:43100720

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA009221

rs_587780814

7 SubmittersRCV000123322 RCV000409019 RCV000411433 RCV000563716 RCV001310569 RCV005042241

NM_020975.6(RET):c.597C>T (p.Asn199=)

SNV
Germline

Chr10:43102601

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Pheochromocytoma
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009297

rs_55810667

6 SubmittersRCV000123323 RCV000292445 RCV000349967 RCV000291430 RCV000383508 RCV000565107 RCV000611182 RCV003415926

NM_020975.6(RET):c.667G>A (p.Val223Met)

SNV
Germline

Chr10:43104993

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
See cases
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA009308

rs_587780815

8 SubmittersRCV000123324 RCV000411929 RCV000409553 RCV001025526 RCV002251993 RCV005042242

NM_020975.6(RET):c.757G>A (p.Val253Met)

SNV
Germline

Chr10:43105083

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA009343

rs_587780816

5 SubmittersRCV000123326 RCV001026582 RCV003467096

NM_020975.6(RET):c.405C>T (p.Gly135=)

SNV
Germline

Chr10:43102409

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer
RET-related disorder

Criteria Provided
Conflicting Classifications

CA009250

rs_142345108

7 SubmittersRCV000130281 RCV000467605 RCV001565613 RCV003492597 RCV004532556

NM_020975.6(RET):c.2498G>A (p.Arg833His)

SNV
Germline

Chr10:43119636

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA008821

rs_587782636

5 SubmittersRCV000132029 RCV000474700 RCV003462028

NM_020975.6(RET):c.539G>A (p.Arg180Gln)

SNV
Germline

Chr10:43102543

Conflicting classifications of pathogenicity

Aganglionic megacolon
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Condition: not provided
RET-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA009280

rs_370736139

12 SubmittersRCV000148786 RCV000197537 RCV000412078 RCV000410075 RCV001024031 RCV001294034 RCV003736605 RCV004739476 RCV005237584

NM_020975.6(RET):c.2081G>A (p.Arg694Gln)

SNV
Germline

Chr10:43114681

Conflicting classifications of pathogenicity

Aganglionic megacolon
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
RET-related disorder

Criteria Provided
Conflicting Classifications

CA008578

rs_141185224

15 SubmittersRCV000148781 RCV000411751 RCV000409290 RCV000462012 RCV000455880 RCV000562835 RCV000766923 RCV001102744 RCV001102745 RCV001102746 RCV001102743 RCV005042290 RCV004532668

NM_020975.6(RET):c.225G>A (p.Thr75=)

SNV
Germline

Chr10:43100610

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
not specified
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia

Criteria Provided
Conflicting Classifications

CA008616

rs_151267865

8 SubmittersRCV000163611 RCV000200674 RCV000409943 RCV000412352 RCV000606849 RCV001103697 RCV001105644 RCV001105642 RCV001105643

NM_020975.6(RET):c.957C>A (p.Leu319=)

SNV
Germline

Chr10:43106465

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Pheochromocytoma
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Condition: not provided
Multiple endocrine neoplasia, type 2
not specified
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA009391

rs_149926238

11 SubmittersRCV000163298 RCV000275161 RCV000288125 RCV000327857 RCV000384830 RCV000679757 RCV001084417 RCV001818363 RCV005425752

NM_020975.6(RET):c.1051G>A (p.Val351Ile)

SNV
Germline

Chr10:43106559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007417

rs_777716061

4 SubmittersRCV000167232 RCV000553159 RCV002485039

NM_020975.6(RET):c.1352C>T (p.Thr451Met)

SNV
Germline

Chr10:43111295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
not specified
Hirschsprung disease, susceptibility to, 1
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Criteria Provided
Conflicting Classifications

CA007541

rs_774092678

7 SubmittersRCV000167414 RCV000654555 RCV003226229 RCV004567348 RCV006439686

NM_020975.6(RET):c.2225C>T (p.Thr742Met)

SNV
Germline

Chr10:43116672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
6 conditions
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008602

rs_773256580

8 SubmittersRCV000167451 RCV000409277 RCV000409934 RCV000654567 RCV000764899 RCV004567352 RCV004786479

NM_020975.6(RET):c.2523G>T (p.Pro841=)

SNV
Germline

Chr10:43119661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 2
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
not specified
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA008853

rs_56195026

12 SubmittersRCV000163299 RCV000679732 RCV001080805 RCV001104779 RCV001105910 RCV001104780 RCV001105909 RCV001818364 RCV005425753

NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)

SNV
Germline

Chr10:43128177

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Multiple endocrine neoplasia
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010930

rs_756465544

12 SubmittersRCV000162457 RCV000168316 RCV000304884 RCV000339922 RCV000401667 RCV000409584 RCV000343184 RCV000411142 RCV002460938

NM_020975.6(RET):c.972G>C (p.Trp324Cys)

SNV
Germline

Chr10:43106480

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009409

rs_758298916

9 SubmittersRCV000167906 RCV000409785 RCV000410975 RCV000994377 RCV001107611 RCV001107613 RCV001107612 RCV001107614 RCV002381533

NM_020975.6(RET):c.2454G>A (p.Glu818=)

SNV
Germline

Chr10:43119592

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA008802

rs_794727131

6 SubmittersRCV000174792 RCV000764901 RCV001437744 RCV002255313 RCV005425786

NM_020975.6(RET):c.2837C>T (p.Thr946Ile)

SNV
Germline

Chr10:43123706

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA009107

rs_794728687

1 SubmittersRCV000182588

NM_020975.6(RET):c.3314C>T (p.Ala1105Val)

SNV
Germline

Chr10:43128238

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA010953

rs_532862288

11 SubmittersRCV000456051 RCV000463602 RCV000662469 RCV001019923 RCV002478618 RCV003462290

NM_020975.6(RET):c.308A>G (p.His103Arg)

SNV
Germline

Chr10:43100693

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B

Criteria Provided
Conflicting Classifications

CA042516

rs_375390467

5 SubmittersRCV000196485 RCV000409523 RCV000411052 RCV002321798 RCV005042428

NM_020975.6(RET):c.334C>T (p.Arg112Cys)

SNV
Germline

Chr10:43100719

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Congenital anomaly of kidney and urinary tract
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA043169

rs_762626209

10 SubmittersRCV000200291 RCV000283887 RCV000374792 RCV000322527 RCV000380664 RCV000572326 RCV000663300 RCV002470810 RCV004998414 RCV006263752

NM_020975.6(RET):c.406G>A (p.Glu136Lys)

SNV
Germline

Chr10:43102410

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
not specified
Multiple endocrine neoplasia type 2A
Condition: not provided
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Ovarian cancer
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Conflicting Classifications

CA043648

rs_79014735

13 SubmittersRCV000197380 RCV000571944 RCV000678743 RCV000662413 RCV000679750 RCV002503785 RCV003153474 RCV003462339 RCV004739588

NM_020975.6(RET):c.431G>A (p.Arg144His)

SNV
Germline

Chr10:43102435

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA043667

rs_551142665

7 SubmittersRCV000200522 RCV000565710 RCV000662542 RCV001294032 RCV002500624 RCV004772862

NM_020975.6(RET):c.977A>G (p.Gln326Arg)

SNV
Germline

Chr10:43106485

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Condition: not provided
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA338671

rs_863224778

9 SubmittersRCV000199477 RCV000574518 RCV000662571 RCV002284372 RCV002485323 RCV003462340

NM_020975.6(RET):c.1150C>G (p.Pro384Ala)

SNV
Germline

Chr10:43109117

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031869

rs_536298339

6 SubmittersRCV000197885 RCV000410243 RCV000412082 RCV000567892 RCV005055722

NM_020975.6(RET):c.1890C>T (p.Cys630=)

SNV
Germline

Chr10:43114490

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
not specified
Multiple endocrine neoplasia
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Condition: not provided
RET-related disorder
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA036313

rs_781145070

10 SubmittersRCV000197302 RCV000506065 RCV001102657 RCV001102659 RCV001013471 RCV001102658 RCV001102660 RCV002225500 RCV004739584 RCV005425798

NM_020975.6(RET):c.2601G>T (p.Glu867Asp)

SNV
Germline

Chr10:43119739

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
RET-related disorder
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA039848

rs_141459368

8 SubmittersRCV000197994 RCV001016073 RCV003225040 RCV003987446 RCV004530196 RCV004791321

NM_020975.6(RET):c.2607+4C>T

SNV
Germline

Chr10:43119749

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Condition: not provided
RET-related disorder
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B

Criteria Provided
Conflicting Classifications

CA040001

rs_200634990

9 SubmittersRCV000199849 RCV000409038 RCV000410597 RCV001016043 RCV003477672 RCV004530197 RCV005031750

NM_020975.6(RET):c.2776C>G (p.His926Asp)

SNV
Germline

Chr10:43121991

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA040885

rs_774215008

6 SubmittersRCV000196286 RCV002433890 RCV002478713 RCV003441780 RCV004791322

NM_020975.6(RET):c.2939+6C>T

SNV
Germline

Chr10:43123814

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia, type 2
not specified

Criteria Provided
Conflicting Classifications

CA041663

rs_181245759

8 SubmittersRCV000663279 RCV000679739 RCV001087395 RCV006259177

NM_020975.6(RET):c.2988G>A (p.Pro996=)

SNV
Germline

Chr10:43124931

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
not specified
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Appendicitis
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA041871

rs_145798106

11 SubmittersRCV000199267 RCV000253581 RCV000288556 RCV000345815 RCV000291942 RCV000395274 RCV000569522 RCV000662488 RCV001289998 RCV003326372 RCV005396608

NM_020975.6(RET):c.517T>C (p.Ser173Pro)

SNV
Germline

Chr10:43102521

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348499

rs_864622361

5 SubmittersRCV000204256 RCV002485343 RCV002336561

NM_020975.6(RET):c.682G>C (p.Ala228Pro)

SNV
Germline

Chr10:43105008

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Condition: not provided
RET-related disorder
Inherited phaeochromocytoma and paraganglioma excluding NF1

Criteria Provided
Conflicting Classifications

CA044503

rs_760813493

9 SubmittersRCV000206221 RCV000571565 RCV002494530 RCV003148679 RCV004541291 RCV006649979

NM_020975.6(RET):c.832A>G (p.Thr278Ala)

SNV
Germline

Chr10:43105158

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045050

rs_541929171

8 SubmittersRCV000205998 RCV000662513 RCV001017556 RCV002485347 RCV005420760

NM_020975.6(RET):c.1052T>A (p.Val351Glu)

SNV
Germline

Chr10:43106560

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA030932

rs_749449032

5 SubmittersRCV000205293 RCV002399761 RCV003153481 RCV003462370 RCV004791326

NM_020975.6(RET):c.1124T>A (p.Leu375Gln)

SNV
Germline

Chr10:43109091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 2
not specified
Congenital central hypoventilation
RET-related disorder

Criteria Provided
Conflicting Classifications

CA031689

rs_142338976

13 SubmittersRCV000564599 RCV000591528 RCV001083800 RCV001532950 RCV001294030 RCV004530231

NM_020975.6(RET):c.1253G>A (p.Arg418Gln)

SNV
Germline

Chr10:43109220

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA032301

rs_371731991

5 SubmittersRCV000206643 RCV000561732 RCV002285278 RCV002494521 RCV004567456

NM_020975.6(RET):c.1264-5C>G

SNV
Germline

Chr10:43111202

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349307

rs_9282835

3 SubmittersRCV001493874 RCV003468947 RCV004943773

NM_020975.6(RET):c.1678C>T (p.Pro560Ser)

SNV
Germline

Chr10:43112882

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hereditary cancer
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035017

rs_748852160

6 SubmittersRCV000204252 RCV002399762 RCV003491956 RCV004567465 RCV005230078

NM_020975.6(RET):c.2284+54C>A

SNV
Germline

Chr10:43116785

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
not specified
Condition: not provided
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349855

rs_566375223

7 SubmittersRCV000205741 RCV000597255 RCV000727042 RCV000663014 RCV002256118

NM_020975.6(RET):c.2298G>A (p.Pro766=)

SNV
Germline

Chr10:43118386

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Hereditary cancer-predisposing syndrome
Condition: not provided
RET-related disorder
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Criteria Provided
Conflicting Classifications

CA038450

rs_140658743

12 SubmittersRCV000205891 RCV000410239 RCV000412216 RCV001015052 RCV002225506 RCV004739599 RCV006605250

NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)

SNV
Germline

Chr10:43119615

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hirschsprung disease, susceptibility to, 1
RET-related disorder
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA039378

rs_34617196

11 SubmittersRCV000205464 RCV000411008 RCV000412172 RCV000679731 RCV001015653 RCV003320137 RCV003462382 RCV004739598 RCV005031777

NM_020975.6(RET):c.2544G>A (p.Met848Ile)

SNV
Germline

Chr10:43119682

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA039702

rs_772684105

4 SubmittersRCV000205988 RCV001015870 RCV004567470

NM_020975.6(RET):c.1201A>T (p.Ser401Cys)

SNV
Germline

Chr10:43109168

Conflicting classifications of pathogenicity

Congenital anomaly of kidney and urinary tract
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA032120

rs_140638866

8 SubmittersRCV000416603 RCV000560396 RCV001010283 RCV003468970 RCV004721300

NM_020975.6(RET):c.-2C>A

SNV
Germline

Chr10:43077257

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
RET-related disorder
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA10576788

rs_876657980

7 SubmittersRCV000221356 RCV000572702 RCV001580474 RCV002503860 RCV004532763 RCV006547832

NM_020975.6(RET):c.544C>T (p.Pro182Ser)

SNV
Germline

Chr10:43102548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA043927

rs_775086466

3 SubmittersRCV000216372 RCV000555816

NM_020975.6(RET):c.1445A>G (p.His482Arg)

SNV
Germline

Chr10:43111388

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA10578863

rs_876659821

2 SubmittersRCV000221247 RCV001853590

NM_020975.6(RET):c.1649-5T>C

SNV
Germline

Chr10:43112848

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA10578865

rs_876658485

3 SubmittersRCV000222946 RCV000533098

NM_020975.6(RET):c.1998G>C (p.Lys666Asn)

SNV
Germline

Chr10:43114598

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
RET-related disorder
MEN2 phenotype: Unclassified
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA036775

rs_146646971

17 SubmittersRCV000219014 RCV000556223 RCV001589145 RCV002463360 RCV002265692 RCV003462451 RCV003137821 RCV004532784 RCV004767168 RCV005044446 RCV006259236

NM_020975.6(RET):c.2461A>G (p.Lys821Glu)

SNV
Germline

Chr10:43119599

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039364

rs_749421642

5 SubmittersRCV000220695 RCV000692117 RCV004998445

NM_020975.6(RET):c.2485A>G (p.Ser829Gly)

SNV
Germline

Chr10:43119623

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039406

rs_113005278

6 SubmittersRCV000220486 RCV000560108 RCV004567591 RCV005044450 RCV006259266

NM_020975.6(RET):c.2492G>T (p.Gly831Val)

SNV
Germline

Chr10:43119630

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039442

rs_760924186

5 SubmittersRCV000220151 RCV001225645 RCV004791341 RCV006259263

NM_020975.6(RET):c.139G>A (p.Gly47Ser)

SNV
Germline

Chr10:43100524

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA033463

rs_529018971

4 SubmittersRCV000230397 RCV000662387 RCV001820759 RCV002392716

NM_020975.6(RET):c.296G>A (p.Arg99Gln)

SNV
Germline

Chr10:43100681

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA041821

rs_749500174

4 SubmittersRCV000230694 RCV001017730 RCV004999160

NM_020975.6(RET):c.1063+9G>A

SNV
Germline

Chr10:43106580

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
not specified
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Condition: not provided
Hereditary cancer-predisposing syndrome
RET-related disorder
Neoplasm of the endocrine system

Criteria Provided
Conflicting Classifications

CA031087

rs_765463636

16 SubmittersRCV000232595 RCV000409561 RCV000412024 RCV000454826 RCV001103996 RCV001103997 RCV001103998 RCV001103999 RCV001567894 RCV002256169 RCV004532955 RCV006648391

NM_020975.6(RET):c.1462A>T (p.Thr488Ser)

SNV
Germline

Chr10:43111405

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Condition: not provided
not specified
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA033750

rs_753733901

9 SubmittersRCV000234316 RCV000709111 RCV001011698 RCV001107800 RCV001107140 RCV001107138 RCV001107139 RCV001770206 RCV004596143 RCV005396817

NM_020975.6(RET):c.1522+35C>T

SNV
Germline

Chr10:43111500

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
RET-related disorder

Criteria Provided
Conflicting Classifications

CA034104

rs_377130948

9 SubmittersRCV000227098 RCV000410817 RCV000412335 RCV000456055 RCV001172033 RCV002257596 RCV004541451

NM_020975.6(RET):c.1538C>T (p.Ala513Val)

SNV
Germline

Chr10:43112114

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA10582720

rs_149238501

7 SubmittersRCV000230991 RCV000662955 RCV001012091 RCV005255579 RCV005044480

NM_020975.6(RET):c.1915G>A (p.Ala639Thr)

SNV
Germline

Chr10:43114515

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Condition: not provided
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA036557

rs_777122776

9 SubmittersRCV000226795 RCV000410332 RCV000409197 RCV000679725 RCV001013684 RCV003469160

NM_020975.6(RET):c.1921G>A (p.Ala641Thr)

SNV
Germline

Chr10:43114521

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA036607

rs_377767411

10 SubmittersRCV000229577 RCV000662388 RCV001292757 RCV002487084 RCV002411060 RCV002508206 RCV003463677

NM_020975.6(RET):c.2052G>A (p.Pro684=)

SNV
Germline

Chr10:43114652

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA037105

rs_145122337

13 SubmittersRCV000273369 RCV000263785 RCV000300341 RCV000369018 RCV000566200 RCV000616095 RCV000679726 RCV001082755 RCV005425897

NM_020975.6(RET):c.2538C>T (p.Leu846=)

SNV
Germline

Chr10:43119676

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
not specified
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA039670

rs_201816539

8 SubmittersRCV000227054 RCV000565745 RCV001105912 RCV001105913 RCV001105914 RCV001105911 RCV002469084 RCV005425901

NM_020975.6(RET):c.2607+3G>A

SNV
Germline

Chr10:43119748

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
RET-related disorder
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA039948

rs_752538741

6 SubmittersRCV000232760 RCV002429132 RCV004541452 RCV005425902

NM_020975.6(RET):c.3005G>A (p.Ser1002Asn)

SNV
Germline

Chr10:43124948

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 1
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Criteria Provided
Conflicting Classifications

CA041961

rs_763489828

8 SubmittersRCV000234755 RCV000992303 RCV001018013 RCV002500811 RCV003463678 RCV006277763

NM_020975.6(RET):c.3113C>T (p.Thr1038Ile)

SNV
Germline

Chr10:43126648

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA042623

rs_200021472

9 SubmittersRCV000228519 RCV000567853 RCV001589196 RCV001820760 RCV002500812 RCV004567757

NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)

SNV
Germline

Chr10:43126684

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Hereditary cancer
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA042811

rs_200956659

13 SubmittersRCV000225774 RCV000563947 RCV000679746 RCV001196701 RCV003463679 RCV003492013 RCV005044481 RCV005055783

NM_020975.6(RET):c.3201G>A (p.Pro1067=)

SNV
Germline

Chr10:43128125

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582726

rs_878855062

3 SubmittersRCV001446501 RCV002321885

NM_020975.6(RET):c.276C>T (p.Thr92=)

SNV
Germline

Chr10:43100661

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10604721

rs_886042820

4 SubmittersRCV000279485 RCV001460357 RCV002436103

NM_020975.6(RET):c.1119G>A (p.Ala373=)

SNV
Germline

Chr10:43109086

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B

Criteria Provided
Conflicting Classifications

CA031672

rs_113931414

12 SubmittersRCV000282321 RCV000566877 RCV000679710 RCV001084015 RCV001104290 RCV001104291 RCV001104292 RCV001104293 RCV003316464

NM_020975.6(RET):c.2418C>G (p.Tyr806Ter)

SNV
Germline

Chr10:43119556

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10606962

rs_553418132

1 SubmittersRCV000314983

NM_020975.6(RET):c.-132G>T

SNV
Germline

Chr10:43077127

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10628534

rs_886046985

2 SubmittersRCV000298833 RCV000336868 RCV000369892 RCV000393831 RCV002256191

NM_020975.6(RET):c.*84G>A

SNV
Germline

Chr10:43128353

Conflicting classifications of pathogenicity

Renal hypodysplasia/aplasia 1
Pheochromocytoma
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10628547

rs_558718557

1 SubmittersRCV000263605 RCV000298834 RCV000356032 RCV000408384

NM_020975.6(RET):c.*1130A>G

SNV
Germline

Chr10:43129399

Conflicting classifications of pathogenicity

Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628579

rs_572936041

2 SubmittersRCV000290403 RCV000339613 RCV000345577 RCV000384769 RCV003311742

NM_020975.6(RET):c.432C>T (p.Arg144=)

SNV
Germline

Chr10:43102436

Conflicting classifications of pathogenicity

Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Pheochromocytoma
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA043682

rs_756999107

6 SubmittersRCV000265740 RCV000305840 RCV000318616 RCV000358174 RCV000537322 RCV000571664 RCV005256590 RCV005434787

NM_020975.6(RET):c.1618A>G (p.Arg540Gly)

SNV
Germline

Chr10:43112194

Conflicting classifications of pathogenicity

Pheochromocytoma
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Microcephaly
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Ovarian cancer
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034653

rs_543376293

11 SubmittersRCV000260802 RCV000263988 RCV000305137 RCV000359923 RCV000573672 RCV000697839 RCV001252827 RCV002480091 RCV003153554 RCV004791397 RCV006259372

NM_020975.6(RET):c.*1644G>C

SNV
Germline

Chr10:43129913

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Multiple endocrine neoplasia

Criteria Provided
Conflicting Classifications

CA10631689

rs_117119161

2 SubmittersRCV000276517 RCV000331623 RCV000356657 RCV000370937

NM_020975.6(RET):c.1162G>A (p.Val388Ile)

SNV
Germline

Chr10:43109129

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031971

rs_776223166

7 SubmittersRCV000312196 RCV000313283 RCV000370252 RCV000393718 RCV000654549 RCV002321978 RCV003480586

NM_020975.6(RET):c.1879+14G>A

SNV
Germline

Chr10:43113689

Conflicting classifications of pathogenicity

Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA035963

rs_532810255

3 SubmittersRCV000295350 RCV000345576 RCV000381315 RCV000389662 RCV000662734 RCV001850584

NM_020975.6(RET):c.2070C>T (p.Ser690=)

SNV
Germline

Chr10:43114670

Conflicting classifications of pathogenicity

Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Pheochromocytoma
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA037190

rs_201550433

6 SubmittersRCV000270886 RCV000325905 RCV000333157 RCV000387715 RCV000542961 RCV000662709 RCV000574739

NM_020975.6(RET):c.220G>A (p.Gly74Ser)

SNV
Germline

Chr10:43100605

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA037807

rs_764938319

7 SubmittersRCV000270926 RCV000323687 RCV000329067 RCV000363157 RCV000551141 RCV001014798 RCV003153553 RCV005033870

NM_020975.6(RET):c.1420C>T (p.Arg474Trp)

SNV
Germline

Chr10:43111363

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Conflicting Classifications

CA033490

rs_775842917

8 SubmittersRCV001239526 RCV001840481 RCV002392835 RCV003469251 RCV004529483

NM_020975.6(RET):c.*1348G>A

SNV
Germline

Chr10:43129617

Conflicting classifications of pathogenicity

Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1

Criteria Provided
Conflicting Classifications

CA10635757

rs_149252070

1 SubmittersRCV000280995 RCV000336056 RCV000395362 RCV000399812

NM_020975.6(RET):c.1187C>T (p.Ser396Leu)

SNV
Germline

Chr10:43109154

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
not specified
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16042116

rs_781646869

9 SubmittersRCV000410233 RCV000411297 RCV000574133 RCV000507135 RCV000689688 RCV003463813 RCV005044623

NM_020975.6(RET):c.1879+13C>T

SNV
Germline

Chr10:43113688

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Pheochromocytoma
Multiple endocrine neoplasia, type 2
RET-related disorder

Criteria Provided
Conflicting Classifications

CA035950

rs_375573788

6 SubmittersRCV000409694 RCV000410376 RCV001107248 RCV001107888 RCV001107249 RCV001107887 RCV002058859 RCV004530506

NM_020975.6(RET):c.2116G>A (p.Val706Met)

SNV
Germline

Chr10:43114716

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA037364

rs_137855422

12 SubmittersRCV000409130 RCV000410654 RCV000565078 RCV000795272 RCV004567897 RCV004999368 RCV006690403

NM_020975.6(RET):c.2393-14C>T

SNV
Germline

Chr10:43119517

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
not specified
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA038910

rs_144269978

8 SubmittersRCV000409467 RCV000411041 RCV001002253 RCV001102853 RCV001102854 RCV001108068 RCV001108069 RCV002058857

NM_020975.6(RET):c.2488G>A (p.Gly830Arg)

SNV
Germline

Chr10:43119626

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Conflicting Classifications

CA039416

rs_200127630

7 SubmittersRCV000409178 RCV000410477 RCV000704852 RCV002429338 RCV002505998 RCV004529566

NM_020975.6(RET):c.3142C>G (p.Leu1048Val)

SNV
Germline

Chr10:43126677

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA042766

rs_774347808

8 SubmittersRCV000410987 RCV000412050 RCV000474558 RCV000574881 RCV003235199 RCV004567898

NM_020975.6(RET):c.361G>A (p.Val121Ile)

SNV
Germline

Chr10:43102365

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA043459

rs_770548816

6 SubmittersRCV000413174 RCV000563413 RCV001062267 RCV004999370

NM_020975.6(RET):c.2527G>A (p.Glu843Lys)

SNV
Germline

Chr10:43119665

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2A
6 conditions
RET-related disorder

Criteria Provided
Conflicting Classifications

CA039575

rs_755837568

9 SubmittersRCV000471342 RCV000562567 RCV000594322 RCV000709123 RCV000763648 RCV004533150

NM_020975.6(RET):c.628G>A (p.Glu210Lys)

SNV
Germline

Chr10:43104954

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
RET-related disorder
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA16612871

rs_1060500762

10 SubmittersRCV000462331 RCV001107516 RCV001107517 RCV001107518 RCV001107519 RCV001025089 RCV001310571 RCV001797722 RCV004740227 RCV005033973

NM_020975.6(RET):c.650C>A (p.Ala217Asp)

SNV
Germline

Chr10:43104976

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Conflicting Classifications

CA16612872

rs_1060500754

6 SubmittersRCV000470242 RCV001025355 RCV001570499 RCV002502615 RCV004529585

NM_020975.6(RET):c.1018G>T (p.Val340Phe)

SNV
Germline

Chr10:43106526

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA030679

rs_367737920

10 SubmittersRCV000470605 RCV000662822 RCV002256246 RCV003327399 RCV005033971

NM_020975.6(RET):c.1375G>A (p.Glu459Lys)

SNV
Germline

Chr10:43111318

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA033343

rs_539995816

5 SubmittersRCV000474764 RCV001011224 RCV002481389 RCV003470405

NM_020975.6(RET):c.1878G>A (p.Gln626=)

SNV
Germline

Chr10:43113674

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
RET-related disorder

Criteria Provided
Conflicting Classifications

CA035935

rs_147692872

8 SubmittersRCV000468334 RCV000662530 RCV001013505 RCV004740226

NM_020975.6(RET):c.2038G>A (p.Ala680Thr)

SNV
Germline

Chr10:43114638

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
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

Criteria Provided
Conflicting Classifications

CA16612879

rs_184498773

5 SubmittersRCV002418359 RCV003463862 RCV005033972 RCV000460597

NM_020975.6(RET):c.2689C>T (p.Arg897Ter)

SNV
Germline

Chr10:43120162

Pathogenic

Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16612889

rs_1060500759

2 SubmittersRCV000461915 RCV002221538

NM_020975.6(RET):c.2932G>A (p.Glu978Lys)

SNV
Germline

Chr10:43123801

Conflicting classifications of pathogenicity

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
Hirschsprung disease, susceptibility to, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA041492

rs_758800351

9 SubmittersRCV000468043 RCV001017564 RCV003463859 RCV002506101 RCV003221984 RCV006263955

NM_020975.6(RET):c.235C>T (p.Arg79Trp)

SNV
Germline

Chr10:43100620

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Condition: not provided
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA038673

rs_537523906

8 SubmittersRCV000463969 RCV001015286 RCV001104288 RCV001105645 RCV001105646 RCV001105647 RCV004722767 RCV005033970

NM_020975.6(RET):c.530G>A (p.Arg177Gln)

SNV
Germline

Chr10:43102534

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Familial medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Melanoma

Criteria Provided
Conflicting Classifications

CA043905

rs_759229505

8 SubmittersRCV000473800 RCV001294033 RCV002348280 RCV003322771 RCV005044660 RCV005899437

NM_020975.6(RET):c.1165C>T (p.Leu389Phe)

SNV
Germline

Chr10:43109132

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16613014

rs_895556824

7 SubmittersRCV000472212 RCV000566718 RCV001107714 RCV001107048 RCV001107049 RCV001107050 RCV005033969

NM_020975.6(RET):c.1250G>A (p.Arg417His)

SNV
Germline

Chr10:43109217

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA032287

rs_201030628

5 SubmittersRCV000456803 RCV000571049 RCV004820031

NM_020975.6(RET):c.626-4G>A

SNV
Germline

Chr10:43104948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
RET-related disorder
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA044385

rs_775956924

5 SubmittersRCV000575748 RCV001085229 RCV004533217 RCV005355877

NM_020975.6(RET):c.1354C>A (p.Leu452Ile)

SNV
Germline

Chr10:43111297

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia, type 2
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Criteria Provided
Conflicting Classifications

CA033242

rs_151148041

8 SubmittersRCV000561647 RCV000662962 RCV000730805 RCV001082963 RCV006443461

NM_020975.6(RET):c.2135T>C (p.Leu712Pro)

SNV
Germline

Chr10:43114735

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037424

rs_760272063

4 SubmittersRCV000465229 RCV003470404 RCV004943844 RCV004999431

NM_020975.6(RET):c.3165A>G (p.Thr1055=)

SNV
Germline

Chr10:43126700

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA042861

rs_200289472

3 SubmittersRCV000468530 RCV002323772

NM_020975.6(RET):c.3188-4T>G

SNV
Germline

Chr10:43128108

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054706

rs_748501516

4 SubmittersRCV000459895 RCV002323771 RCV003114597

NM_020975.6(RET):c.175G>A (p.Ala59Thr)

SNV
Germline

Chr10:43100560

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA035435

rs_376565365

7 SubmittersRCV000486291 RCV000557492 RCV001013005 RCV004787790

NM_020975.6(RET):c.1055A>G (p.His352Arg)

SNV
Germline

Chr10:43106563

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376546507

rs_1131691450

2 SubmittersRCV000494565 RCV001856964

NM_020975.6(RET):c.3288T>G (p.Tyr1096Ter)

SNV
Germline

Chr10:43128212

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA376559149

rs_1131691861

1 SubmittersRCV000494324

NM_020975.6(RET):c.1399G>C (p.Val467Leu)

SNV
Germline

Chr10:43111342

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA033445

rs_200334340

9 SubmittersRCV002291649 RCV002496914 RCV003470621 RCV000497413 RCV000575346 RCV000688581

NM_020975.6(RET):c.31C>T (p.Leu11=)

SNV
Germline

Chr10:43077289

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469274883

rs_587780812

5 SubmittersRCV002325102 RCV000547016 RCV002491106 RCV005431765

NM_020975.6(RET):c.236G>A (p.Arg79Gln)

SNV
Germline

Chr10:43100621

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376770372

rs_1318325737

7 SubmittersRCV000528844 RCV001015313 RCV002483498 RCV004767387

NM_020975.6(RET):c.1084C>A (p.Leu362Ile)

SNV
Germline

Chr10:43109051

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA031444

rs_773935854

7 SubmittersRCV001821651 RCV000531414 RCV000563252 RCV003441942 RCV005034120

NM_020975.6(RET):c.1264-8C>T

SNV
Germline

Chr10:43111199

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Pheochromocytoma
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
RET-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA593289956

rs_769595884

5 SubmittersRCV001079777 RCV001107716 RCV001107717 RCV001107718 RCV001107715 RCV004530582 RCV006260237

NM_020975.6(RET):c.1306A>G (p.Ile436Val)

SNV
Germline

Chr10:43111249

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA033031

rs_770736612

3 SubmittersRCV000525768 RCV002384266 RCV004596263

NM_020975.6(RET):c.1312G>A (p.Val438Ile)

SNV
Germline

Chr10:43111255

Conflicting classifications of pathogenicity

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
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
RET-related disorder

Criteria Provided
Conflicting Classifications

CA033053

rs_774474422

7 SubmittersRCV000540480 RCV002483496 RCV000663209 RCV003302887 RCV004530583

NM_020975.6(RET):c.1958C>G (p.Ser653Cys)

SNV
Germline

Chr10:43114558

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA036691

rs_753724503

3 SubmittersRCV000541231 RCV002420536

NM_020975.6(RET):c.2030G>A (p.Arg677Gln)

SNV
Germline

Chr10:43114630

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA036983

rs_536038262

5 SubmittersRCV002420537 RCV000545044 RCV004791573

NM_020975.6(RET):c.2945G>A (p.Arg982His)

SNV
Germline

Chr10:43124888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA041809

rs_368550200

7 SubmittersRCV001017621 RCV000536923 RCV003156261 RCV000763650

NM_020975.6(RET):c.3059C>T (p.Ala1020Val)

SNV
Germline

Chr10:43126594

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA042456

rs_372191563

7 SubmittersRCV000528285 RCV001018359 RCV002476202 RCV000679742 RCV003470794

NM_020975.6(RET):c.18C>T (p.Ser6=)

SNV
Germline

Chr10:43077276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469274810

rs_1185431356

4 SubmittersRCV001013606 RCV000547863 RCV003237924

NM_020975.6(RET):c.170G>A (p.Arg57Gln)

SNV
Germline

Chr10:43100555

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035162

rs_779915615

6 SubmittersRCV000558252 RCV000561648 RCV000679722

NM_020975.6(RET):c.230G>A (p.Arg77His)

SNV
Germline

Chr10:43100615

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038543

rs_570176656

4 SubmittersRCV000525207 RCV001015133 RCV004722923

NM_020975.6(RET):c.322A>C (p.Lys108Gln)

SNV
Germline

Chr10:43100707

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Condition: not provided
RET-related disorder

Criteria Provided
Conflicting Classifications

CA043092

rs_567877611

7 SubmittersRCV001019322 RCV000546040 RCV003316732 RCV003237925 RCV004530584

NM_020975.6(RET):c.718G>C (p.Val240Leu)

SNV
Germline

Chr10:43105044

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Multiple endocrine neoplasia
Condition: not provided
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA044589

rs_375120544

8 SubmittersRCV000533533 RCV000565358 RCV001103893 RCV001103895 RCV001103892 RCV001103894 RCV004822108 RCV005034123

NM_020975.6(RET):c.731C>T (p.Thr244Ile)

SNV
Germline

Chr10:43105057

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044641

rs_145970248

6 SubmittersRCV000557609 RCV001026272 RCV002506371 RCV005416370

NM_020975.6(RET):c.973G>A (p.Ala325Thr)

SNV
Germline

Chr10:43106481

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA045679

rs_779719517

8 SubmittersRCV000528670 RCV000709105 RCV000566312 RCV003327423 RCV003459267

NM_020975.6(RET):c.1574G>A (p.Arg525Gln)

SNV
Germline

Chr10:43112150

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA034474

rs_752830820

5 SubmittersRCV000562267 RCV000554802 RCV004791572

NM_020975.6(RET):c.1798C>T (p.Arg600Trp)

SNV
Germline

Chr10:43113594

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Pheochromocytoma
Renal hypodysplasia/aplasia 1
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
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Criteria Provided
Conflicting Classifications

CA035694

rs_745418960

6 SubmittersRCV001013214 RCV001107244 RCV001107246 RCV001107245 RCV001107247 RCV000549713 RCV002491103 RCV006436840

NM_020975.6(RET):c.2305C>T (p.Leu769=)

SNV
Germline

Chr10:43118393

Conflicting classifications of pathogenicity

Condition: not provided
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

Criteria Provided
Conflicting Classifications

CA038497

rs_142793711

3 SubmittersRCV003228955 RCV002476201 RCV000551339

NM_020975.6(RET):c.3200C>T (p.Pro1067Leu)

SNV
Germline

Chr10:43128124

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Familial medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054768

rs_760625882

7 SubmittersRCV000535690 RCV001294031 RCV002448801 RCV001811073

NM_020975.6(RET):c.30G>A (p.Gly10=)

SNV
Germline

Chr10:43077288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
RET-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206710332

rs_1050242868

5 SubmittersRCV001018644 RCV000553487 RCV004740325 RCV004817770

NM_020975.6(RET):c.109T>C (p.Trp37Arg)

SNV
Germline

Chr10:43100494

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA031539

rs_777042445

2 SubmittersRCV000530645 RCV002448800

NM_020975.6(RET):c.176C>T (p.Ala59Val)

SNV
Germline

Chr10:43100561

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376770251

rs_1554817372

2 SubmittersRCV000535796 RCV006717131

NM_020975.6(RET):c.566G>A (p.Arg189His)

SNV
Germline

Chr10:43102570

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA043969

rs_753707182

5 SubmittersRCV000526271 RCV001105728 RCV002350393 RCV001105729 RCV001105730 RCV001105731

NM_020975.6(RET):c.943A>C (p.Thr315Pro)

SNV
Germline

Chr10:43106451

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA045562

rs_774637214

6 SubmittersRCV000535337 RCV002377189 RCV000679756 RCV003459266 RCV005034124

NM_020975.6(RET):c.1090A>G (p.Ile364Val)

SNV
Germline

Chr10:43109057

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA376547274

rs_1308447836

8 SubmittersRCV000552058 RCV003459262 RCV002456263 RCV006634409 RCV004772996 RCV005034121

NM_020975.6(RET):c.1189G>A (p.Val397Met)

SNV
Germline

Chr10:43109156

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA032076

rs_183729115

5 SubmittersRCV000534092 RCV004024396 RCV003153730 RCV005034122

NM_020975.6(RET):c.1566C>T (p.Ser522=)

SNV
Germline

Chr10:43112142

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA206261749

rs_929663686

4 SubmittersRCV001012164 RCV000554444 RCV005426167

NM_020975.6(RET):c.2041C>G (p.Gln681Glu)

SNV
Germline

Chr10:43114641

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
not specified
Hirschsprung disease, susceptibility to, 1
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA037016

rs_567241943

7 SubmittersRCV000558712 RCV001014192 RCV003330795 RCV003470793 RCV006255740 RCV004791574

NM_020975.6(RET):c.2392+6G>T

SNV
Germline

Chr10:43118486

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA658656068

rs_1554819413

2 SubmittersRCV000541616 RCV005422100

NM_020975.6(RET):c.2801+9G>A

SNV
Germline

Chr10:43122025

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA041097

rs_780912886

3 SubmittersRCV000544591 RCV005426170

NM_020975.6(RET):c.2939+7G>A

SNV
Germline

Chr10:43123815

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
not specified

Criteria Provided
Conflicting Classifications

CA206267380

rs_374565577

3 SubmittersRCV000526600 RCV001102948 RCV001108157 RCV001102949 RCV001108156 RCV004596264

NM_020975.6(RET):c.-37G>C

SNV
Germline

Chr10:43077222

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Condition: not provided
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA043526

rs_751005619

5 SubmittersRCV000526991 RCV002225663 RCV005357619 RCV005044835

NM_020975.6(RET):c.74-5C>T

SNV
Germline

Chr10:43100454

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658657959

rs_1554817349

3 SubmittersRCV001442138 RCV004024397

NM_020975.6(RET):c.487C>A (p.Arg163=)

SNV
Germline

Chr10:43102491

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Multiple endocrine neoplasia
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
not specified

Criteria Provided
Conflicting Classifications

CA043827

rs_371153966

8 SubmittersRCV000679752 RCV001023187 RCV001103797 RCV001103795 RCV001084075 RCV001103796 RCV001105727 RCV006458621

NM_020975.6(RET):c.603C>T (p.Ser201=)

SNV
Germline

Chr10:43102607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA044075

rs_780120451

5 SubmittersRCV002358621 RCV001106847 RCV001106848 RCV001106849 RCV001107515 RCV000555991

NM_020975.6(RET):c.1163T>C (p.Val388Ala)

SNV
Germline

Chr10:43109130

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031993

rs_751939820

5 SubmittersRCV000560343 RCV001010068 RCV004719874

NM_020975.6(RET):c.1441C>G (p.Leu481Val)

SNV
Germline

Chr10:43111384

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA033651

rs_767210575

4 SubmittersRCV000524715 RCV001011599 RCV000662529

NM_020975.6(RET):c.1649G>A (p.Gly550Glu)

SNV
Germline

Chr10:43112853

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA034935

rs_747844360

2 SubmittersRCV000543567 RCV002395488

NM_020975.6(RET):c.553T>C (p.Phe185Leu)

SNV
Germline

Chr10:43102557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA206256167

rs_1048022444

2 SubmittersRCV000571696 RCV001858383

NM_020975.6(RET):c.457T>A (p.Ser153Thr)

SNV
Germline

Chr10:43102461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376770870

rs_1341922880

3 SubmittersRCV000568512 RCV001247153

NM_020975.6(RET):c.3153C>G (p.Ala1051=)

SNV
Germline

Chr10:43126688

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206267851

rs_755946631

4 SubmittersRCV000562319 RCV001393110 RCV005000321

NM_020975.6(RET):c.2005A>G (p.Ile669Val)

SNV
Germline

Chr10:43114605

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA036871

rs_776986585

6 SubmittersRCV000566339 RCV001359410 RCV002491139 RCV003222050 RCV005427073

NM_020975.6(RET):c.2403C>T (p.Leu801=)

SNV
Germline

Chr10:43119541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA469479710

rs_1554819519

5 SubmittersRCV000572478 RCV000869947 RCV001102855 RCV001102856 RCV001102858 RCV001102857 RCV005422218

NM_020975.6(RET):c.31C>A (p.Leu11Met)

SNV
Germline

Chr10:43077289

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
not specified
RET-related disorder
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA206710333

rs_587780812

8 SubmittersRCV000575741 RCV000689589 RCV001821691 RCV004530620 RCV005034142

NM_020975.6(RET):c.452A>G (p.Asn151Ser)

SNV
Germline

Chr10:43102456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA043742

rs_150261092

7 SubmittersRCV000575489 RCV000709102 RCV000812605 RCV001764690 RCV003459399 RCV002483540

NM_020975.6(RET):c.20G>A (p.Gly7Asp)

SNV
Germline

Chr10:43077278

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Malignant tumor of breast
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA376768033

rs_1366681125

9 SubmittersRCV000567089 RCV000688487 RCV001269372 RCV003314623 RCV003459397 RCV002497216

NM_020975.6(RET):c.736C>A (p.His246Asn)

SNV
Germline

Chr10:43105062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044654

rs_780756440

7 SubmittersRCV000568616 RCV001227818 RCV003459398 RCV002506384 RCV004767409

NM_020975.6(RET):c.394C>A (p.Leu132Ile)

SNV
Germline

Chr10:43102398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376770728

rs_1554817540

2 SubmittersRCV000573093 RCV001342323

NM_020975.6(RET):c.740C>T (p.Ala247Val)

SNV
Germline

Chr10:43105066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA206256814

rs_61843232

2 SubmittersRCV000574821 RCV001366883

NM_020975.6(RET):c.1216A>G (p.Ser406Gly)

SNV
Germline

Chr10:43109183

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA032165

rs_756532455

6 SubmittersRCV000686269 RCV000566445 RCV002530239 RCV003153736

NM_020975.6(RET):c.1493C>T (p.Ala498Val)

SNV
Germline

Chr10:43111436

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
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
Condition: not provided
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA033877

rs_375677628

8 SubmittersRCV000569143 RCV000696079 RCV002476248 RCV002508232 RCV003325206 RCV004569286

NM_020975.6(RET):c.1102C>T (p.Arg368Cys)

SNV
Germline

Chr10:43109069

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA031579

rs_754116867

8 SubmittersRCV000567474 RCV000802145 RCV002476249 RCV003225093 RCV004569289

NM_020975.6(RET):c.1501C>T (p.Leu501Phe)

SNV
Germline

Chr10:43111444

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376549987

rs_199572076

2 SubmittersRCV000564433 RCV001853799

NM_020975.6(RET):c.1771G>A (p.Val591Ile)

SNV
Germline

Chr10:43113567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206262326

rs_776013456

4 SubmittersRCV000573728 RCV000809432 RCV003117341

NM_020975.6(RET):c.2290G>A (p.Ala764Thr)

SNV
Germline

Chr10:43118378

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA038434

rs_748799148

7 SubmittersRCV000576114 RCV000654575 RCV002476250 RCV004592777 RCV005427074

NM_020975.6(RET):c.1523-12T>G

SNV
Germline

Chr10:43112087

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA658797416

rs_1429462039

3 SubmittersRCV000605552 RCV004002634

NM_020975.6(RET):c.2393-5C>T

SNV
Germline

Chr10:43119526

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA658797418

rs_1554819512

4 SubmittersRCV000615821 RCV001433390 RCV002476358 RCV003352939

NM_020975.6(RET):c.1364T>C (p.Val455Ala)

SNV
Germline

Chr10:43111307

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA033305

rs_752267460

3 SubmittersRCV000654600 RCV004944075

NM_020975.6(RET):c.2758A>G (p.Ile920Val)

SNV
Germline

Chr10:43121973

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
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 2A

Criteria Provided
Conflicting Classifications

CA040857

rs_527787676

5 SubmittersRCV000654583 RCV002440390 RCV005046844 RCV004792346

NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)

SNV
Germline

Chr10:43126587

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA042397

rs_766330880

9 SubmittersRCV000654577 RCV000709125 RCV001106020 RCV001106021 RCV001106022 RCV001106023 RCV001018329 RCV003318621 RCV003493698

NM_020975.6(RET):c.1538C>G (p.Ala513Gly)

SNV
Germline

Chr10:43112114

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034343

rs_149238501

6 SubmittersRCV000654589 RCV001012090 RCV003442008

NM_020975.6(RET):c.1677T>C (p.Ser559=)

SNV
Germline

Chr10:43112881

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469027711

rs_1554818698

3 SubmittersRCV000654614 RCV002406486

NM_020975.6(RET):c.2735G>T (p.Arg912Leu)

SNV
Germline

Chr10:43121950

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA040762

rs_78347871

6 SubmittersRCV000654572 RCV002440388 RCV003238798 RCV005427224

NM_020975.6(RET):c.237G>T (p.Arg79=)

SNV
Germline

Chr10:43100622

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469490672

rs_1554817395

5 SubmittersRCV000729527 RCV001088057 RCV001015327

NM_020975.6(RET):c.1138G>A (p.Asp380Asn)

SNV
Germline

Chr10:43109105

Conflicting classifications of pathogenicity

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376547437

rs_1394361948

6 SubmittersRCV000654554 RCV002485478 RCV005268702 RCV005000470

NM_020975.6(RET):c.2657G>A (p.Arg886Gln)

SNV
Germline

Chr10:43120130

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B

Criteria Provided
Conflicting Classifications

CA040313

rs_373594744

13 SubmittersRCV000654581 RCV000708758 RCV002284418 RCV002477456 RCV003313129 RCV003459554 RCV004792345 RCV005357871

NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)

SNV
Germline

Chr10:43128123

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA054755

rs_775583354

7 SubmittersRCV000654601 RCV000663067 RCV001019124 RCV002284419 RCV002507130

NM_020975.6(RET):c.577G>T (p.Val193Leu)

SNV
Germline

Chr10:43102581

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA206256170

rs_1008123818

5 SubmittersRCV000654552 RCV001024524 RCV002485477

NM_020975.6(RET):c.1686C>T (p.Thr562=)

SNV
Germline

Chr10:43112890

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035077

rs_767502292

4 SubmittersRCV000654612 RCV002397328 RCV003237979

NM_020975.6(RET):c.1963T>C (p.Phe655Leu)

SNV
Germline

Chr10:43114563

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA036702

rs_756978792

2 SubmittersRCV000654563 RCV001013883

NM_020975.6(RET):c.1016C>T (p.Ser339Leu)

SNV
Germline

Chr10:43106524

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA030658

rs_774829203

6 SubmittersRCV000663096 RCV000818592 RCV002343411 RCV002485508

NM_020975.6(RET):c.1083C>A (p.Asn361Lys)

SNV
Germline

Chr10:43109050

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
RET-related disorder
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA031414

rs_770587835

11 SubmittersRCV000663048 RCV000823028 RCV001017228 RCV001816663 RCV002469239 RCV004533456 RCV004568482

NM_020975.6(RET):c.1649-4G>A

SNV
Germline

Chr10:43112849

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Pheochromocytoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034881

rs_369769303

7 SubmittersRCV000663217 RCV000862007 RCV001012564 RCV001104474 RCV001104475 RCV001104476 RCV001104477 RCV004546550

NM_020975.6(RET):c.2392+19T>C

SNV
Germline

Chr10:43118499

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
RET-related disorder
not specified
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B

Criteria Provided
Conflicting Classifications

CA038787

rs_778745375

9 SubmittersRCV000662501 RCV000835063 RCV001455001 RCV002256459 RCV004740392 RCV005240417 RCV005034230

NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)

SNV
Germline

Chr10:43126711

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206267860

rs_772395752

7 SubmittersRCV000663319 RCV000691242 RCV002325336 RCV002485509 RCV003459563 RCV004702267

NM_020975.6(RET):c.884C>T (p.Thr295Met)

SNV
Germline

Chr10:43106392

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided
RET-related disorder
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA045369

rs_758159521

6 SubmittersRCV001018407 RCV001040270 RCV001779040 RCV004527722 RCV004792356

NM_020975.6(RET):c.1827C>T (p.Cys609=)

SNV
Germline

Chr10:43113623

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469027870

rs_377767396

2 SubmittersRCV003481967 RCV005714974

NM_020975.6(RET):c.1860C>T (p.Cys620=)

SNV
Germline

Chr10:43113656

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
RET-related disorder
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA035823

rs_79890926

7 SubmittersRCV000695872 RCV002256461 RCV004740393 RCV005427235 RCV005034231

NM_020975.6(RET):c.860G>A (p.Arg287Gln)

SNV
Germline

Chr10:43105186

Pathogenic

Aganglionic megacolon

No Assertion Criteria Provided

CA376545422

rs_1564491460

1 SubmittersRCV000678744

NM_020975.6(RET):c.602G>C (p.Ser201Thr)

SNV
Germline

Chr10:43102606

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA206256179

rs_898525501

8 SubmittersRCV000679753 RCV001066218 RCV002352100 RCV002499197 RCV003459652

NM_020975.6(RET):c.3093C>T (p.Asp1031=)

SNV
Germline

Chr10:43126628

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA042545

rs_369116900

4 SubmittersRCV000679743 RCV001078589 RCV002325342

NM_020975.6(RET):c.433G>A (p.Val145Ile)

SNV
Germline

Chr10:43102437

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
6 conditions
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376770813

rs_1311922451

5 SubmittersRCV001269771 RCV002332452 RCV000764893 RCV000695077

NM_020975.6(RET):c.1094C>T (p.Ser365Leu)

SNV
Germline

Chr10:43109061

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA031493

rs_763670106

6 SubmittersRCV000687406 RCV001017260 RCV003442020 RCV003459671

NM_020975.6(RET):c.1450A>G (p.Met484Val)

SNV
Germline

Chr10:43111393

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA376549682

rs_755660496

4 SubmittersRCV000702631 RCV002388321 RCV005034318

NM_020975.6(RET):c.3094G>A (p.Gly1032Ser)

SNV
Germline

Chr10:43126629

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA042562

rs_757373375

6 SubmittersRCV000706711 RCV001018566 RCV003238196 RCV003460986

NM_020975.6(RET):c.3256G>A (p.Gly1086Arg)

SNV
Germline

Chr10:43128180

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA054923

rs_778452896

4 SubmittersRCV000688843 RCV002325368

NM_020975.6(RET):c.224C>T (p.Thr75Met)

SNV
Germline

Chr10:43100609

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA038004

rs_142641173

9 SubmittersRCV000690605 RCV001014923 RCV001662755 RCV003153803 RCV005431879

NM_020975.6(RET):c.398G>A (p.Arg133His)

SNV
Germline

Chr10:43102402

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
not specified
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Pheochromocytoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA043594

rs_138265837

7 SubmittersRCV000688498 RCV001021592 RCV002469258 RCV002485619 RCV004692095

NM_020975.6(RET):c.754G>A (p.Glu252Lys)

SNV
Germline

Chr10:43105080

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206256829

rs_950977184

6 SubmittersRCV000706652 RCV001026552 RCV005231299

NM_020975.6(RET):c.2129A>G (p.Lys710Arg)

SNV
Germline

Chr10:43114729

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037409

rs_774983492

11 SubmittersRCV000703840 RCV000709118 RCV000708756 RCV001104665 RCV001104666 RCV001104667 RCV001104668 RCV002499266 RCV004588148

NM_020975.6(RET):c.3152C>T (p.Ala1051Val)

SNV
Germline

Chr10:43126687

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA376558496

rs_1564501944

3 SubmittersRCV000688272 RCV004659166 RCV005046927

NM_020975.6(RET):c.111G>A (p.Trp37Ter)

SNV
Germline

Chr10:43100496

Pathogenic

Aganglionic megacolon

No Assertion Criteria Provided

CA376770113

rs_1564489315

1 SubmittersRCV000736270

NM_020975.6(RET):c.440T>C (p.Phe147Ser)

SNV
Germline

Chr10:43102444

Likely pathogenic

Aganglionic megacolon

No Assertion Criteria Provided

CA376770831

rs_1564490097

1 SubmittersRCV000736272

NM_020975.6(RET):c.604G>C (p.Val202Leu)

SNV
Germline

Chr10:43102608

Likely pathogenic

Aganglionic megacolon

No Assertion Criteria Provided

CA376543643

rs_751572082

1 SubmittersRCV000736273

NM_020975.6(RET):c.1202G>A (p.Ser401Asn)

SNV
Germline

Chr10:43109169

Conflicting classifications of pathogenicity

Ependymoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376547774

rs_1564493414

2 SubmittersRCV000761047 RCV004949893

NM_020975.6(RET):c.16T>G (p.Ser6Ala)

SNV
Germline

Chr10:43077274

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376768026

rs_1588848475

2 SubmittersRCV000811238 RCV005712272

NM_020975.6(RET):c.82G>A (p.Gly28Ser)

SNV
Germline

Chr10:43100467

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA045033

rs_779905135

8 SubmittersRCV000807337 RCV002424881 RCV002495105 RCV003148868 RCV004569642

NM_020975.6(RET):c.268G>T (p.Glu90Ter)

SNV
Germline

Chr10:43100653

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376770450

rs_1588862638

1 SubmittersRCV000796315

NM_020975.6(RET):c.388A>G (p.Thr130Ala)

SNV
Germline

Chr10:43102392

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376770718

rs_1588863938

2 SubmittersRCV000798358 RCV004944162

NM_020975.6(RET):c.391T>C (p.Ser131Pro)

SNV
Germline

Chr10:43102395

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA043552

rs_375576038

3 SubmittersRCV000805198 RCV003166245

NM_020975.6(RET):c.523C>G (p.Arg175Gly)

SNV
Germline

Chr10:43102527

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Multiple endocrine neoplasia type 2B

Criteria Provided
Conflicting Classifications

CA376543371

rs_1057521088

5 SubmittersRCV000794783 RCV002334475 RCV004783858 RCV005036139

NM_020975.6(RET):c.701G>A (p.Arg234Gln)

SNV
Germline

Chr10:43105027

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Familial medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376544612

rs_756216318

8 SubmittersRCV000819920 RCV001788362 RCV002363147 RCV002495168 RCV003130074

NM_020975.6(RET):c.1008C>G (p.Asn336Lys)

SNV
Germline

Chr10:43106516

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
RET-related disorder
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA030592

rs_144981275

6 SubmittersRCV000814407 RCV001009678 RCV003467473 RCV004740458 RCV004792517

NM_020975.6(RET):c.1063A>G (p.Arg355Gly)

SNV
Germline

Chr10:43106571

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA031100

rs_145402131

7 SubmittersRCV000824530 RCV004569789 RCV005047121 RCV001009795 RCV004792544

NM_020975.6(RET):c.1271A>G (p.Lys424Arg)

SNV
Germline

Chr10:43111214

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376548835

rs_1176090269

4 SubmittersRCV000799163 RCV002370104 RCV004773157

NM_020975.6(RET):c.1327C>T (p.His443Tyr)

SNV
Germline

Chr10:43111270

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA033105

rs_772292843

3 SubmittersRCV000809124 RCV002381795

NM_020975.6(RET):c.1343A>G (p.Asn448Ser)

SNV
Germline

Chr10:43111286

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376549104

rs_760832715

4 SubmittersRCV000802993 RCV002386436 RCV005036168 RCV006450349

NM_020975.6(RET):c.1421G>A (p.Arg474Gln)

SNV
Germline

Chr10:43111364

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA033507

rs_747139265

6 SubmittersRCV000800480 RCV001011510 RCV005036163 RCV006261082

NM_020975.6(RET):c.1456G>T (p.Val486Leu)

SNV
Germline

Chr10:43111399

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376549719

rs_1588871361

4 SubmittersRCV000812410 RCV002390643 RCV004761811

NM_020975.6(RET):c.1469A>G (p.Gln490Arg)

SNV
Germline

Chr10:43111412

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA033797

rs_750291418

2 SubmittersRCV000798219 RCV002388457

NM_020975.6(RET):c.1783G>T (p.Glu595Ter)

SNV
Germline

Chr10:43113579

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376552530

rs_1483605155

1 SubmittersRCV000814670

NM_020975.6(RET):c.2365A>G (p.Lys789Glu)

SNV
Germline

Chr10:43118453

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA376555847

rs_1352006130

6 SubmittersRCV000811746 RCV002453836 RCV002495126 RCV003461202 RCV004773182 RCV004792510

NM_020975.6(RET):c.3021G>C (p.Lys1007Asn)

SNV
Germline

Chr10:43124964

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA376558208

rs_786204098

4 SubmittersRCV000820560 RCV001018121 RCV002469300 RCV003153865

NM_020975.6(RET):c.1879+1G>A

SNV
Germline

Chr10:43113676

Pathogenic/Likely pathogenic

Hirschsprung disease, susceptibility to, 1
Condition: not provided
Multiple endocrine neoplasia, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA376552871

rs_1588873476

4 SubmittersRCV000825021 RCV003141864 RCV003532285

NM_020975.6(RET):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr10:43105038

Pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376544690

rs_1588866040

1 SubmittersRCV000853339

NM_020975.6(RET):c.860G>T (p.Arg287Leu)

SNV
Germline

Chr10:43105186

Likely pathogenic

Aganglionic megacolon

Criteria Provided
Single Submitter

CA376545427

rs_1564491460

1 SubmittersRCV000853370

NM_020975.6(RET):c.1753T>C (p.Cys585Arg)

SNV
Germline

Chr10:43112957

Likely pathogenic

Aganglionic megacolon

Criteria Provided
Single Submitter

CA376552233

rs_1588872865

1 SubmittersRCV000857245

NM_020975.6(RET):c.2115C>T (p.Ser705=)

SNV
Germline

Chr10:43114715

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA469480003

rs_1247902894

4 SubmittersRCV000863364 RCV002415988 RCV005427318

NM_020975.6(RET):c.2089C>T (p.Leu697=)

SNV
Germline

Chr10:43114689

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA469479981

rs_1588874416

7 SubmittersRCV000865755 RCV002416009 RCV002501251 RCV004997418 RCV005423044

NM_020975.6(RET):c.306C>T (p.Asp102=)

SNV
Germline

Chr10:43100691

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469490805

rs_1588862691

3 SubmittersRCV000875671 RCV001482750 RCV002444958

NM_020975.6(RET):c.1146G>A (p.Gln382=)

SNV
Germline

Chr10:43109113

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA031792

rs_770637118

4 SubmittersRCV000877606 RCV001490918 RCV002268346 RCV002454051

NM_020975.6(RET):c.3123G>A (p.Val1041=)

SNV
Germline

Chr10:43126658

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
RET-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA042670

rs_147437610

3 SubmittersRCV000875391 RCV004541742 RCV005470550

NM_020975.6(RET):c.1523-5T>C

SNV
Germline

Chr10:43112094

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
not specified
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA592894663

rs_1373899196

5 SubmittersRCV000872147 RCV001012003 RCV001817017 RCV005427337

NM_020975.6(RET):c.2136+9C>T

SNV
Germline

Chr10:43114745

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
RET-related disorder
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA593290004

rs_1331402266

4 SubmittersRCV000876638 RCV005047139 RCV004530852 RCV005427346

NM_020975.6(RET):c.2262G>C (p.Thr754=)

SNV
Germline

Chr10:43116709

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469028060

rs_779080598

3 SubmittersRCV001436292 RCV002445101

NM_020975.6(RET):c.1648+10G>A

SNV
Germline

Chr10:43112234

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
not specified
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA034739

rs_762545740

3 SubmittersRCV000897128 RCV001818722 RCV005423083

NM_020975.6(RET):c.2340G>A (p.Lys780=)

SNV
Germline

Chr10:43118428

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469028157

rs_1588876500

2 SubmittersRCV001416650 RCV005470559

NM_020975.6(RET):c.202C>T (p.Leu68=)

SNV
Germline

Chr10:43100587

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469490581

rs_1588862565

4 SubmittersRCV000938652 RCV002416192

NM_020975.6(RET):c.933G>A (p.Val311=)

SNV
Germline

Chr10:43106441

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469023686

rs_1210305963

3 SubmittersRCV000940863 RCV005427428 RCV004944746

NM_020975.6(RET):c.1662C>T (p.Asn554=)

SNV
Germline

Chr10:43112866

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469027695

rs_1253582681

2 SubmittersRCV001471130 RCV004944748

NM_020975.6(RET):c.15G>C (p.Thr5=)

SNV
Germline

Chr10:43077273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469274808

rs_1226499208

4 SubmittersRCV001012310 RCV001480371 RCV004777920

NM_020975.6(RET):c.143C>T (p.Thr48Met)

SNV
Germline

Chr10:43100528

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376770187

rs_1427186016

6 SubmittersRCV001011585 RCV001069718 RCV003447573 RCV004783877

NM_020975.6(RET):c.467C>T (p.Ala156Val)

SNV
Germline

Chr10:43102471

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376770894

rs_1588864039

2 SubmittersRCV001022883 RCV001862235

NM_020975.6(RET):c.607G>A (p.Ala203Thr)

SNV
Germline

Chr10:43102611

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA044096

rs_755007607

4 SubmittersRCV001024872 RCV001304872

NM_020975.6(RET):c.890G>A (p.Arg297His)

SNV
Germline

Chr10:43106398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376545706

rs_1480040525

7 SubmittersRCV001018506 RCV001344857 RCV002489523 RCV004588490

NM_020975.6(RET):c.1141T>C (p.Phe381Leu)

SNV
Germline

Chr10:43109108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031741

rs_781362020

4 SubmittersRCV001017444 RCV001062743 RCV003328101 RCV003132142

NM_020975.6(RET):c.1363G>A (p.Val455Ile)

SNV
Germline

Chr10:43111306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA033292

rs_145966037

5 SubmittersRCV001011134 RCV001070712 RCV002481819 RCV006261203

NM_020975.6(RET):c.1471C>T (p.Gln491Ter)

SNV
Germline

Chr10:43111414

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA376549803

rs_1397494237

2 SubmittersRCV001011763 RCV002549346

NM_020975.6(RET):c.1717G>A (p.Val573Met)

SNV
Germline

Chr10:43112921

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035206

rs_758766818

5 SubmittersRCV001012856 RCV001071883 RCV003480903

NM_020975.6(RET):c.1914C>T (p.Ile638=)

SNV
Germline

Chr10:43114514

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
RET-related disorder
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA036533

rs_375041479

6 SubmittersRCV001013679 RCV001493439 RCV004545014 RCV005428011

NM_020975.6(RET):c.2234A>G (p.His745Arg)

SNV
Germline

Chr10:43116681

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA206263731

rs_534094626

2 SubmittersRCV001014895 RCV001053447

NM_020975.6(RET):c.3304T>C (p.Ser1102Pro)

SNV
Germline

Chr10:43128228

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376559230

rs_1305555370

5 SubmittersRCV001019824 RCV001240737 RCV004569985 RCV004998557

NM_020975.6(RET):c.178C>T (p.Pro60Ser)

SNV
Germline

Chr10:43100563

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA035676

rs_748402485

7 SubmittersRCV001071199 RCV002411620 RCV002489713 RCV003462620 RCV006634456

NM_020975.6(RET):c.650C>T (p.Ala217Val)

SNV
Germline

Chr10:43104976

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376544366

rs_1060500754

3 SubmittersRCV001071229 RCV005036382 RCV006721146

NM_020975.6(RET):c.733G>A (p.Val245Met)

SNV
Germline

Chr10:43105059

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376544790

rs_1837733068

5 SubmittersRCV001056109 RCV003160453 RCV003153912 RCV006261307

NM_020975.6(RET):c.1249C>T (p.Arg417Cys)

SNV
Germline

Chr10:43109216

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376548057

rs_1478152005

4 SubmittersRCV001045751 RCV002400260 RCV005423839

NM_020975.6(RET):c.1440A>T (p.Glu480Asp)

SNV
Germline

Chr10:43111383

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA033633

rs_763296134

4 SubmittersRCV001048411 RCV002393238 RCV003462539

NM_020975.6(RET):c.1522T>C (p.Tyr508His)

SNV
Germline

Chr10:43111465

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA034161

rs_775152474

5 SubmittersRCV001061306 RCV002393301 RCV003442186 RCV005047270

NM_020975.6(RET):c.3139C>T (p.Pro1047Ser)

SNV
Germline

Chr10:43126674

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206267845

rs_369152977

4 SubmittersRCV001035018 RCV002320227 RCV004998580

NM_020975.6(RET):c.3192G>A (p.Met1064Ile)

SNV
Germline

Chr10:43128116

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA054728

rs_144730090

7 SubmittersRCV001056445 RCV002445297 RCV002482014 RCV003238833 RCV005055150

NM_020975.6(RET):c.1064-6C>A

SNV
Germline

Chr10:43109025

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA592894146

rs_768878280

2 SubmittersRCV001041016 RCV006261284

NM_020975.6(RET):c.1264-10G>A

SNV
Germline

Chr10:43111197

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA916081582

rs_1837911590

2 SubmittersRCV001040346 RCV002481879

NM_020975.6(RET):c.2629G>C (p.Ala877Pro)

SNV
Germline

Chr10:43120102

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376557057

rs_1838178869

1 SubmittersRCV001089963

NM_020975.6(RET):c.*29C>A

SNV
Germline

Chr10:43128298

Conflicting classifications of pathogenicity

Pheochromocytoma
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Hirschsprung disease, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA053931

rs_199639914

2 SubmittersRCV001103050 RCV001103049 RCV001104961 RCV001104962 RCV003321801

NM_020975.6(RET):c.*1046G>C

SNV
Germline

Chr10:43129315

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206268406

rs_143948954

2 SubmittersRCV001105164 RCV001105162 RCV001105163 RCV001105165 RCV002264184

NM_020975.6(RET):c.*1326T>C

SNV
Germline

Chr10:43129595

Conflicting classifications of pathogenicity

Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA206268455

rs_141016377

1 SubmittersRCV001103337 RCV001103338 RCV001103339 RCV001103340

NM_020975.6(RET):c.*1430A>G

SNV
Germline

Chr10:43129699

Conflicting classifications of pathogenicity

Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206268468

rs_775114955

2 SubmittersRCV001105257 RCV001105256 RCV001105254 RCV001105255 RCV002275285

NM_020975.6(RET):c.*1812C>A

SNV
Germline

Chr10:43130081

Conflicting classifications of pathogenicity

Pheochromocytoma
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA206268532

rs_183817000

1 SubmittersRCV001103515 RCV001103516 RCV001105442 RCV001105441

NM_020975.6(RET):c.1880-5C>A

SNV
Germline

Chr10:43114475

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Renal hypodysplasia/aplasia 1
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA1139659376

rs_1838016447

3 SubmittersRCV001107890 RCV001107889 RCV002411629 RCV005093487 RCV001102655 RCV001102656

NM_020975.6(RET):c.1711G>A (p.Asp571Asn)

SNV
Germline

Chr10:43112915

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA035189

rs_750958377

4 SubmittersRCV001224329 RCV002402700 RCV006258465

NM_020975.6(RET):c.307C>T (p.His103Tyr)

SNV
Germline

Chr10:43100692

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376770535

rs_1217820916

3 SubmittersRCV001211530 RCV002319675

NM_020975.6(RET):c.750C>T (p.Arg250=)

SNV
Germline

Chr10:43105076

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
RET-related disorder

Criteria Provided
Conflicting Classifications

CA206256823

rs_1013952995

5 SubmittersRCV001209376 RCV002393470 RCV002480689 RCV004538450

NM_020975.6(RET):c.960C>A (p.Pro320=)

SNV
Germline

Chr10:43106468

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045620

rs_756761746

8 SubmittersRCV001206433 RCV002256697 RCV002484114 RCV005428136 RCV006266632

NM_020975.6(RET):c.1203C>A (p.Ser401Arg)

SNV
Germline

Chr10:43109170

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376547783

rs_781623106

4 SubmittersRCV001205511 RCV002348671

NM_020975.6(RET):c.3285A>G (p.Val1095=)

SNV
Germline

Chr10:43128209

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469033760

rs_1838376770

3 SubmittersRCV001207466 RCV002447066 RCV003233993

NM_020975.6(RET):c.742G>A (p.Gly248Ser)

SNV
Germline

Chr10:43105068

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376544830

rs_1837733775

3 SubmittersRCV001234495 RCV002246222 RCV002379894

NM_020975.6(RET):c.1385C>T (p.Ser462Leu)

SNV
Germline

Chr10:43111328

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA376549337

rs_1313331250

5 SubmittersRCV001228900 RCV002393566 RCV002497777 RCV003153952

NM_020975.6(RET):c.1888T>G (p.Cys630Gly)

SNV
Germline

Chr10:43114488

Likely pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376552897

rs_377767404

1 SubmittersRCV001231313

NM_020975.6(RET):c.3332C>T (p.Thr1111Met)

SNV
Germline

Chr10:43128256

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
not specified
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA206268174

rs_1003057639

5 SubmittersRCV001238151 RCV002246228 RCV002322139 RCV003462806

NM_020975.6(RET):c.724G>A (p.Val242Met)

SNV
Germline

Chr10:43105050

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376544735

rs_1264337497

3 SubmittersRCV001248230 RCV002375304 RCV004769969

NM_020975.6(RET):c.1450A>C (p.Met484Leu)

SNV
Germline

Chr10:43111393

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376549680

rs_755660496

2 SubmittersRCV001247478 RCV006287377

NM_020975.6(RET):c.1098G>C (p.Glu366Asp)

SNV
Germline

Chr10:43109065

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376547306

rs_1362164894

3 SubmittersRCV001269685 RCV001880196 RCV004035435

NM_020975.6(RET):c.2137-13A>G

SNV
Germline

Chr10:43116571

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA593290060

rs_1314541806

3 SubmittersRCV001289029 RCV002070089

NM_020975.6(RET):c.3148C>T (p.Arg1050Ter)

SNV
Germline

Chr10:43126683

Conflicting classifications of pathogenicity

Appendicitis
Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376558488

rs_767479170

5 SubmittersRCV001289999 RCV001819981 RCV004035575 RCV006466229

NM_020975.6(RET):c.1467C>G (p.Asp489Glu)

SNV
Germline

Chr10:43111410

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376549771

rs_372648203

2 SubmittersRCV001297345 RCV002393699

NM_020975.6(RET):c.1828A>C (p.Asn610His)

SNV
Germline

Chr10:43113624

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376552761

rs_1837994023

6 SubmittersRCV001305413 RCV001535690 RCV001824949 RCV002411977

NM_020975.6(RET):c.959C>T (p.Pro320Leu)

SNV
Germline

Chr10:43106467

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA376546107

rs_1837779952

3 SubmittersRCV001323360 RCV002384426 RCV003153993

NM_020975.6(RET):c.1821C>T (p.Gly607=)

SNV
Germline

Chr10:43113617

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
RET-related disorder
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA469027867

rs_1837993502

5 SubmittersRCV001340820 RCV002412070 RCV004531130 RCV005428179

NM_020975.6(RET):c.2412G>A (p.Val804=)

SNV
Germline

Chr10:43119550

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039108

rs_767045208

3 SubmittersRCV001337765 RCV002255182

NM_020975.6(RET):c.1522+2T>C

SNV
Germline

Chr10:43111467

Likely pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376550063

rs_2132777891

1 SubmittersRCV001376832

NM_020975.6(RET):c.229C>T (p.Arg77Cys)

SNV
Germline

Chr10:43100614

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA376770362

rs_1588862595

2 SubmittersRCV001381227 RCV004820198

NM_020975.6(RET):c.318G>A (p.Trp106Ter)

SNV
Germline

Chr10:43100703

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376770562

rs_2132664999

1 SubmittersRCV001381565

NM_020975.6(RET):c.1203C>T (p.Ser401=)

SNV
Germline

Chr10:43109170

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA032133

rs_781623106

3 SubmittersRCV001392680 RCV002350742 RCV002476736

NM_020975.6(RET):c.2349C>T (p.Asn783=)

SNV
Germline

Chr10:43118437

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA469028169

rs_1160720188

4 SubmittersRCV001417946 RCV002449136 RCV005428236

NM_020975.6(RET):c.2229C>T (p.Ala743=)

SNV
Germline

Chr10:43116676

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469028035

rs_1838077833

3 SubmittersRCV001433121 RCV002432203

NM_020975.6(RET):c.276C>G (p.Thr92=)

SNV
Germline

Chr10:43100661

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469490766

rs_886042820

4 SubmittersRCV001477153 RCV001820174 RCV003298836 RCV006443941

NM_020975.6(RET):c.96G>T (p.Ser32=)

SNV
Germline

Chr10:43100481

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA469490328

rs_139821724

3 SubmittersRCV001490144 RCV005271321 RCV005038240

NM_020975.6(RET):c.2137-1G>A

SNV
Germline

Chr10:43116583

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA376554099

rs_2132902301

1 SubmittersRCV001561289

NM_020975.6(RET):c.1264-5C>A

SNV
Germline

Chr10:43111202

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA927697148

rs_9282835

5 SubmittersRCV001566899 RCV001866004 RCV002414269 RCV002488386

NM_020975.6(RET):c.2801+17C>T

SNV
Germline

Chr10:43122033

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573053273

rs_2132987446

2 SubmittersRCV002074052 RCV003237663

NM_020975.6(RET):c.1232C>G (p.Ser411Cys)

SNV
Germline

Chr10:43109199

Conflicting classifications of pathogenicity

Familial medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376547949

rs_2132746693

3 SubmittersRCV001788940 RCV002370319 RCV003533030

NM_020975.6(RET):c.1000T>C (p.Trp334Arg)

SNV
Germline

Chr10:43106508

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376546325

rs_2132721114

2 SubmittersRCV002035857 RCV003289381

NM_020975.6(RET):c.1846G>A (p.Glu616Lys)

SNV
Germline

Chr10:43113642

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA376552800

rs_1393753095

3 SubmittersRCV001877157 RCV004656696 RCV005040448

NM_020975.6(RET):c.1816T>C (p.Tyr606His)

SNV
Germline

Chr10:43113612

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA035744

rs_199921511

4 SubmittersRCV001872471 RCV004039734 RCV004998975 RCV005421043

NM_020975.6(RET):c.74-2A>T

SNV
Germline

Chr10:43100457

Likely pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376770028

rs_2132656224

1 SubmittersRCV002010657

NM_020975.6(RET):c.100G>A (p.Asp34Asn)

SNV
Germline

Chr10:43100485

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376770087

rs_1837613489

2 SubmittersRCV001934739 RCV005472949

NM_020975.6(RET):c.2427C>A (p.Tyr809Ter)

SNV
Germline

Chr10:43119565

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376556117

rs_577929869

1 SubmittersRCV001906929

NM_020975.6(RET):c.376T>C (p.Phe126Leu)

SNV
Germline

Chr10:43102380

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA376770693

rs_2132678531

2 SubmittersRCV002047968 RCV003154058

NM_020975.6(RET):c.1521A>G (p.Ser507=)

SNV
Germline

Chr10:43111464

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469479464

rs_876660561

3 SubmittersRCV002014761 RCV002388928 RCV004809713

NM_020975.6(RET):c.1315C>T (p.Gln439Ter)

SNV
Germline

Chr10:43111258

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376548991

rs_2132767341

1 SubmittersRCV002007525

NM_020975.6(RET):c.2479C>G (p.Leu827Val)

SNV
Germline

Chr10:43119617

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376556325

rs_1247476725

2 SubmittersRCV001994353 RCV004671590

NM_020975.6(RET):c.867+3G>A

SNV
Germline

Chr10:43105196

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573145090

rs_2132709323

3 SubmittersRCV002041494 RCV002370352

NM_020975.6(RET):c.1414G>A (p.Ala472Thr)

SNV
Germline

Chr10:43111357

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376549504

rs_1253227059

2 SubmittersRCV001896925 RCV004042539

NM_020975.6(RET):c.1463C>T (p.Thr488Ile)

SNV
Germline

Chr10:43111406

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376549754

rs_1218693745

3 SubmittersRCV002005689 RCV002388985

NM_020975.6(RET):c.1252C>T (p.Arg418Ter)

SNV
Germline

Chr10:43109219

Pathogenic

Multiple endocrine neoplasia, type 2
RET-related disorder

Criteria Provided
Single Submitter

CA376548067

rs_2132747295

2 SubmittersRCV001908987 RCV004542167

NM_020975.6(RET):c.3040-2A>G

SNV
Germline

Chr10:43126573

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376558259

rs_2133032257

2 SubmittersRCV001961621 RCV005271583

NM_020975.6(RET):c.265C>A (p.Gln89Lys)

SNV
Germline

Chr10:43100650

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376770440

rs_2132663101

5 SubmittersRCV001878115 RCV002458735 RCV003442941

NM_020975.6(RET):c.317G>A (p.Trp106Ter)

SNV
Germline

Chr10:43100702

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376770558

rs_2132664970

1 SubmittersRCV001906653

NM_020975.6(RET):c.124G>T (p.Val42Leu)

SNV
Germline

Chr10:43100509

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376770147

rs_2132658120

2 SubmittersRCV001891915 RCV004946812

NM_020975.6(RET):c.1228C>T (p.Leu410Phe)

SNV
Germline

Chr10:43109195

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376547930

rs_1588869546

2 SubmittersRCV001937590 RCV002361122

NM_020975.6(RET):c.3187+12C>T

SNV
Germline

Chr10:43126734

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
not specified
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA206267867

rs_897706317

3 SubmittersRCV002200386 RCV005238217 RCV005042717

NM_020975.6(RET):c.1880-12C>G

SNV
Germline

Chr10:43114468

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036097

rs_374893494

4 SubmittersRCV002128478 RCV005032177

NM_020975.6(RET):c.1674C>T (p.Cys558=)

SNV
Germline

Chr10:43112878

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469027707

rs_2132813703

2 SubmittersRCV002218105 RCV003365682

NM_020975.6(RET):c.2608-5C>G

SNV
Germline

Chr10:43120076

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573145053

rs_2132958072

2 SubmittersRCV002150147 RCV006667206

NM_020975.6(RET):c.1620G>A (p.Arg540=)

SNV
Germline

Chr10:43112196

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469027669

rs_776381183

2 SubmittersRCV002158010 RCV004046398

NM_020975.6(RET):c.2393-14C>G

SNV
Germline

Chr10:43119517

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA038892

rs_144269978

4 SubmittersRCV002071772 RCV004793734

NM_020975.6(RET):c.1064-4G>T

SNV
Germline

Chr10:43109027

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1905810825

rs_1837849469

4 SubmittersRCV002202866 RCV002246670 RCV003161398 RCV004999630

NM_020975.6(RET):c.3188-15T>A

SNV
Germline

Chr10:43128097

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA2573145094

rs_1588881831

2 SubmittersRCV002089765

NM_020975.6(RET):c.447C>T (p.Phe149=)

SNV
Germline

Chr10:43102451

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA206713305

rs_989787527

2 SubmittersRCV002150272 RCV003161539

NM_020975.6(RET):c.2802-17C>G

SNV
Germline

Chr10:43123654

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA2573145062

rs_750812195

2 SubmittersRCV002147889 RCV005032168

NM_020975.6(RET):c.1468C>G (p.Gln490Glu)

SNV
Germline

Chr10:43111411

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376549775

rs_1588871393

2 SubmittersRCV002246798 RCV003094041

NM_020975.6(RET):c.1264-6C>T

SNV
Germline

Chr10:43111201

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA593289958

rs_1255010070

2 SubmittersRCV002259176 RCV003101401

NM_020975.6(RET):c.1573C>A (p.Arg525=)

SNV
Germline

Chr10:43112149

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA469027630

rs_545625150

4 SubmittersRCV002255794 RCV005424830 RCV006553153

NM_020975.6(RET):c.909G>A (p.Val303=)

SNV
Germline

Chr10:43106417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469023605

rs_1478633054

2 SubmittersRCV002256979

NM_020975.6(RET):c.2136+2T>G

SNV
Germline

Chr10:43114738

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376553433

rs_2132856009

4 SubmittersRCV002289007 RCV002416555 RCV003645908

NM_020975.6(RET):c.1438G>T (p.Glu480Ter)

SNV
Germline

Chr10:43111381

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376549615

rs_537874538

1 SubmittersRCV002289465

NM_020975.6(RET):c.3231C>A (p.Leu1077=)

SNV
Germline

Chr10:43128155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054825

rs_765409417

3 SubmittersRCV002445543 RCV003102331 RCV004763366

NM_020975.6(RET):c.3171T>C (p.Ile1057=)

SNV
Germline

Chr10:43126706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469032697

rs_2133037467

2 SubmittersRCV002322642 RCV003232609

NM_020975.6(RET):c.-3G>A

SNV
Germline

Chr10:43077256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206710331

rs_985601017

4 SubmittersRCV002321170 RCV004005650 RCV004999697

NM_020975.6(RET):c.1664T>G (p.Phe555Cys)

SNV
Germline

Chr10:43112868

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA376551792

rs_2538470328

2 SubmittersRCV002403881 RCV003492764

NM_020975.6(RET):c.1495C>T (p.Gln499Ter)

SNV
Germline

Chr10:43111438

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA376549951

rs_2132776227

2 SubmittersRCV002389791 RCV003095239

NM_020975.6(RET):c.1888T>A (p.Cys630Ser)

SNV
Germline

Chr10:43114488

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA376552896

rs_377767404

1 SubmittersRCV002407971

NM_020975.6(RET):c.1451T>C (p.Met484Thr)

SNV
Germline

Chr10:43111394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA033724

rs_763617146

2 SubmittersRCV002394623 RCV003533227

NM_020975.6(RET):c.1610C>T (p.Pro537Leu)

SNV
Germline

Chr10:43112186

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376550689

rs_1490617677

2 SubmittersRCV002400899 RCV003100749

NM_020975.6(RET):c.1968C>T (p.Cys656=)

SNV
Germline

Chr10:43114568

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA469479763

rs_2132847951

4 SubmittersRCV002423428 RCV002481085 RCV003645927 RCV005424929

NM_020975.6(RET):c.2393-4C>G

SNV
Germline

Chr10:43119527

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039001

rs_768398267

2 SubmittersRCV005098120 RCV002430651

NM_020975.6(RET):c.2493C>T (p.Gly831=)

SNV
Germline

Chr10:43119631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469479951

rs_1235438710

4 SubmittersRCV002430974 RCV003533261 RCV004765521

NM_020975.6(RET):c.1109T>C (p.Met370Thr)

SNV
Germline

Chr10:43109076

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376547345

rs_886046987

2 SubmittersRCV002428857 RCV006258857

NM_020975.6(RET):c.3031A>T (p.Lys1011Ter)

SNV
Germline

Chr10:43124974

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA376558232

rs_368345402

1 SubmittersRCV002438113

NM_020975.6(RET):c.2905C>T (p.Arg969Trp)

SNV
Germline

Chr10:43123774

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA376557926

rs_2133006451

1 SubmittersRCV002462599

NM_020975.6(RET):c.1522+1G>A

SNV
Germline

Chr10:43111466

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376550056

rs_2132777851

1 SubmittersRCV002472204

NM_020975.6(RET):c.3040-3C>T

SNV
Germline

Chr10:43126572

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA593290097

rs_1177729406

3 SubmittersRCV003050908 RCV004948946

NM_020975.6(RET):c.1078C>T (p.Arg360Trp)

SNV
Germline

Chr10:43109045

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA376547238

rs_1424549058

2 SubmittersRCV003062255 RCV005059130

NM_020975.6(RET):c.1998G>A (p.Lys666=)

SNV
Germline

Chr10:43114598

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469479820

rs_146646971

3 SubmittersRCV003088375 RCV005425053 RCV006721697

NM_020975.6(RET):c.1076A>G (p.Asn359Ser)

SNV
Germline

Chr10:43109043

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
RET-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376547229

rs_1204350955

3 SubmittersRCV003086962 RCV004540556 RCV006660502

NM_020975.6(RET):c.1285A>G (p.Asn429Asp)

SNV
Germline

Chr10:43111228

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA032862

rs_779625196

2 SubmittersRCV003086499 RCV006721704

NM_020975.6(RET):c.375C>T (p.Val125=)

SNV
Germline

Chr10:43102379

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469279153

rs_1800859

2 SubmittersRCV002644129 RCV005724977

NM_020975.6(RET):c.1064-9T>G

SNV
Germline

Chr10:43109022

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA927696360

rs_1837849183

2 SubmittersRCV003118330

NM_020975.6(RET):c.1301G>A (p.Ser434Asn)

SNV
Germline

Chr10:43111244

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376548944

rs_2132766849

2 SubmittersRCV003112980 RCV005724985

NM_020975.6(RET):c.2111T>A (p.Val704Asp)

SNV
Germline

Chr10:43114711

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA037346

rs_770155054

3 SubmittersRCV002590047 RCV004656936 RCV004790222

NM_020975.6(RET):c.366C>T (p.Tyr122=)

SNV
Germline

Chr10:43102370

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469279105

rs_2132678154

2 SubmittersRCV002658048 RCV005473205

NM_020975.6(RET):c.1330T>C (p.Ser444Pro)

SNV
Germline

Chr10:43111273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376549044

rs_2132767932

2 SubmittersRCV005714830 RCV002700147

NM_020975.6(RET):c.2906G>A (p.Arg969Gln)

SNV
Germline

Chr10:43123775

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Aganglionic megacolon

Criteria Provided
Conflicting Classifications

CA376557927

rs_2133006493

4 SubmittersRCV002761246 RCV004067944 RCV006255218

NM_020975.6(RET):c.1001G>A (p.Trp334Ter)

SNV
Germline

Chr10:43106509

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376546329

rs_2538404690

1 SubmittersRCV002863139

NM_020975.6(RET):c.3141C>T (p.Pro1047=)

SNV
Germline

Chr10:43126676

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA042748

rs_372673589

3 SubmittersRCV002894998 RCV003167875 RCV004999822

NM_020975.6(RET):c.1880-5C>T

SNV
Germline

Chr10:43114475

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580081710

rs_1838016447

2 SubmittersRCV003002689 RCV004946119

NM_020975.6(RET):c.2731-5T>C

SNV
Germline

Chr10:43121941

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA2580081526

rs_2538595810

3 SubmittersRCV002944263 RCV006660235 RCV005421474

NM_020975.6(RET):c.1622G>A (p.Cys541Tyr)

SNV
Germline

Chr10:43112198

Likely pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376550769

rs_2538460738

1 SubmittersRCV003041045

NM_020975.6(RET):c.1759+1G>A

SNV
Germline

Chr10:43112964

Pathogenic/Likely pathogenic

RET-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA376552269

rs_2132817885

3 SubmittersRCV004538899 RCV005724990

NM_020975.6(RET):c.2617C>T (p.Arg873Trp)

SNV
Germline

Chr10:43120090

Likely pathogenic

Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA376556992

rs_1838178513

2 SubmittersRCV003150912 RCV003274351

NM_020975.6(RET):c.818C>A (p.Pro273His)

SNV
Germline

Chr10:43105144

Likely pathogenic

Ovarian cancer

Criteria Provided
Single Submitter

CA376545199

rs_2132708181

1 SubmittersRCV003154779

NM_020975.6(RET):c.454A>G (p.Thr152Ala)

SNV
Germline

Chr10:43102458

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376770865

rs_1588864028

2 SubmittersRCV003172688 RCV003779602

NM_020975.6(RET):c.1336G>A (p.Gly446Ser)

SNV
Germline

Chr10:43111279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA376549061

rs_115423919

2 SubmittersRCV003176491 RCV005100976

NM_020975.6(RET):c.585C>T (p.Phe195=)

SNV
Germline

Chr10:43102589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469020618

rs_1588864152

2 SubmittersRCV003216324 RCV004999908

NM_020975.6(RET):c.971G>A (p.Trp324Ter)

SNV
Germline

Chr10:43106479

Pathogenic

RET-related disorder

Criteria Provided
Single Submitter

CA376546160

rs_1278030644

1 SubmittersRCV003335957

NM_020975.6(RET):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr10:43114641

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA376553191

rs_567241943

1 SubmittersRCV003361060

NM_020975.6(RET):c.664G>T (p.Glu222Ter)

SNV
Germline

Chr10:43104990

Likely pathogenic

RET-related disorder

Criteria Provided
Single Submitter

CA376544428

rs_1837729713

1 SubmittersRCV004531651

NM_020975.6(RET):c.2731-2A>G

SNV
Germline

Chr10:43121944

Likely pathogenic

RET-related disorder

Criteria Provided
Single Submitter

CA376557379

rs_2132983720

1 SubmittersRCV004534211

NM_020975.6(RET):c.208C>T (p.Gln70Ter)

SNV
Germline

Chr10:43100593

Pathogenic

RET-related disorder

Criteria Provided
Single Submitter

CA376770313

rs_1465353841

1 SubmittersRCV004529778

NM_020975.6(RET):c.712G>C (p.Glu238Gln)

SNV
Germline

Chr10:43105038

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376544688

rs_1588866040

2 SubmittersRCV003463505 RCV006664037

NM_020975.6(RET):c.255G>A (p.Trp85Ter)

SNV
Germline

Chr10:43100640

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376770417

rs_2132662772

1 SubmittersRCV003533956

NM_020975.6(RET):c.444C>T (p.Ser148=)

SNV
Germline

Chr10:43102448

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469279451

rs_1554817550

2 SubmittersRCV003534004 RCV004673906

NM_020975.6(RET):c.1335T>A (p.Ser445=)

SNV
Germline

Chr10:43111278

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469479657

rs_1554818529

2 SubmittersRCV003534068 RCV004369001

NM_020975.6(RET):c.2940-3C>T

SNV
Germline

Chr10:43124880

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA2697558324

rs_2538625661

2 SubmittersRCV003534091

NM_020975.6(RET):c.958C>T (p.Pro320Ser)

SNV
Germline

Chr10:43106466

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376546099

rs_2538403940

2 SubmittersRCV003532541 RCV005715001

NM_020975.6(RET):c.2722A>C (p.Arg908=)

SNV
Germline

Chr10:43120195

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA469029056

rs_2538580125

3 SubmittersRCV003532392 RCV005425166 RCV004775445

NM_020975.6(RET):c.749G>T (p.Arg250Leu)

SNV
Germline

Chr10:43105075

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376544861

rs_1662568698

2 SubmittersRCV003645980 RCV004943126

NM_020975.6(RET):c.1347C>A (p.Cys449Ter)

SNV
Germline

Chr10:43111290

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

CA376549130

rs_2132768560

1 SubmittersRCV003646334

NM_020975.6(RET):c.336C>A (p.Arg112=)

SNV
Germline

Chr10:43100721

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA469490359

rs_2132665616

2 SubmittersRCV003646602 RCV006667358

NM_020975.6(RET):c.1507A>G (p.Thr503Ala)

SNV
Germline

Chr10:43111450

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376550003

rs_2132776895

3 SubmittersRCV003647186 RCV004765975 RCV005725110

NM_020975.6(RET):c.1880-12C>A

SNV
Germline

Chr10:43114468

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B

Criteria Provided
Conflicting Classifications

CA1905813442

rs_374893494

2 SubmittersRCV003835821 RCV005040544

NM_020975.6(RET):c.1105A>G (p.Thr369Ala)

SNV
Germline

Chr10:43109072

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376547332

rs_1212213363

2 SubmittersRCV003863403 RCV004943260

NM_020975.6(RET):c.277G>A (p.Gly93Ser)

SNV
Germline

Chr10:43100662

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376770471

rs_1477699803

1 SubmittersRCV003990837

NM_020975.6(RET):c.2944C>A (p.Arg982Ser)

SNV
Germline

Chr10:43124887

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376558032

rs_17158558

2 SubmittersRCV004007825 RCV004943276

NM_020975.6(RET):c.643C>T (p.Arg215Cys)

SNV
Germline

Chr10:43104969

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA376544328

rs_1320902245

2 SubmittersRCV004014430 RCV004943279

NM_020975.6(RET):c.2802-3C>T

SNV
Germline

Chr10:43123668

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2825001671

rs_754733091

3 SubmittersRCV004015505 RCV005475536

NM_020975.6(RET):c.1860C>A (p.Cys620Ter)

SNV
Germline

Chr10:43113656

Pathogenic

Aganglionic megacolon

Criteria Provided
Single Submitter

CA376552823

rs_79890926

1 SubmittersRCV004018329

NM_020975.6(RET):c.736C>G (p.His246Asp)

SNV
Germline

Chr10:43105062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

CA044663

rs_780756440

2 SubmittersRCV004524685 RCV006564882

NM_020975.6(RET):c.2888T>C (p.Leu963Pro)

SNV
Germline

Chr10:43123757

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376557893

rs_2538616392

1 SubmittersRCV004555733

NM_020975.6(RET):c.2902C>T (p.His968Tyr)

SNV
Germline

Chr10:43123771

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004658197 RCV006474406

NM_020975.6(RET):c.706A>T (p.Lys236Ter)

SNV
Germline

Chr10:43105032

Likely pathogenic

RET-related disorder
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV004729693 RCV006259587

NM_020975.6(RET):c.2599G>T (p.Glu867Ter)

SNV
Germline

Chr10:43119737

Likely pathogenic

RET-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004726539

NM_020975.6(RET):c.1144C>T (p.Gln382Ter)

SNV
Germline

Chr10:43109111

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004769666

NM_020975.6(RET):c.1638A>G (p.Gly546=)

SNV
Germline

Chr10:43112214

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004947356 RCV006479607

NM_020975.6(RET):c.1761G>A (p.Arg587=)

SNV
Germline

Chr10:43113557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004943685 RCV005422528

NM_020975.6(RET):c.2672C>T (p.Ser891Leu)

SNV
Germline

Chr10:43120145

Likely pathogenic

Multiple endocrine neoplasia type 2B
Pheochromocytoma
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005035982

NM_020975.6(RET):c.2715C>A (p.Tyr905Ter)

SNV
Germline

Chr10:43120188

Pathogenic

Multiple endocrine neoplasia, type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005126043

NM_020975.6(RET):c.1019T>C (p.Val340Ala)

SNV
Germline

Chr10:43106527