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	Criteria Provided Multiple Submitters No Conflicts	CA007995	rs_76262710	13 SubmittersRCV000014919 RCV000228834 RCV000522833 RCV000762807 RCV002408462 RCV002470710
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)	SNV Germline	Chr10:43114500	Pathogenic	Multiple endocrine neoplasia type 2A Pheochromocytoma 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	9 SubmittersRCV000014922 RCV000014923 RCV000182581 RCV000654584 RCV001013616 RCV001310209 RCV001420921
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)	SNV Germline	Chr10:43114501	Pathogenic	Familial medullary thyroid carcinoma Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008370	rs_75996173	6 SubmittersRCV000014929 RCV000014930 RCV000014928 RCV000471652 RCV002408463 RCV003237413
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)	SNV Germline	Chr10:43113649	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	CA008013	rs_79781594	12 SubmittersRCV000014933 RCV000014934 RCV000082050 RCV000161938 RCV001013348
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	SNV Germline/somatic	Chr10:43121968	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia type 2B Thyroid carcinoma, sporadic medullary Pheochromocytoma Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Medullary thyroid carcinoma Multiple endocrine neoplasia type 4 8 conditions Multiple endocrine neoplasia, type 1 Thyroid tumor not specified Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA009082	rs_74799832	34 SubmittersRCV000014941 RCV000014942 RCV000014943 RCV000082054 RCV000161926 RCV000175096 RCV000417859 RCV000444529 RCV000415312 RCV000425499 RCV000428538 RCV000999916 RCV001292662 RCV001542764 RCV002255998 RCV004532351
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)	SNV Germline/somatic	Chr10:43113648	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007985	rs_76262710	12 SubmittersRCV000014954 RCV000021792 RCV000114391 RCV000345209 RCV000434685 RCV000442341 RCV000427260 RCV000444839 RCV002256000
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)	SNV Germline/somatic	Chr10:43118392	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Neoplasm Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 4 Medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided Hepatocellular carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008641	rs_78014899	6 SubmittersRCV000014956 RCV000021842 RCV000431893 RCV000432579 RCV000439063 RCV000421871 RCV000426010 RCV000445341 RCV001015022 RCV001811141 RCV002280861
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)	SNV Germline/somatic	Chr10:43113622	Pathogenic	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 4 Hereditary cancer-predisposing syndrome RET-related disorder Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA007824	rs_77939446	19 SubmittersRCV000014958 RCV000082049 RCV000168107 RCV000173889 RCV000441078 RCV000496009 RCV000424503 RCV000431942 RCV000509116 RCV000444552 RCV000562113 RCV004532352 RCV003460480
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 Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008702	rs_75030001	8 SubmittersRCV000014960 RCV000014961 RCV000021849 RCV000182583 RCV002453262
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 Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia type 2B Aganglionic megacolon Multiple endocrine neoplasia, type 2 Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA009143	rs_17158558	31 SubmittersRCV000014965 RCV000034774 RCV000082055 RCV000202663 RCV000162949 RCV000320112 RCV000238890 RCV000411820 RCV000354936 RCV000410308 RCV000736279 RCV001080524 RCV001269493 RCV001822995
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 Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA008085	rs_77503355	7 SubmittersRCV000014970 RCV000021802 RCV000489707 RCV001013426 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	Criteria Provided Multiple Submitters No Conflicts	CA007804	rs_77558292	5 SubmittersRCV000014971 RCV000414355 RCV000736274 RCV001013275 RCV001851862
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 7 conditions MEN2 phenotype: Unclassified Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 RET-related disorder Ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA008751	rs_79658334	39 SubmittersRCV000148773 RCV000182584 RCV000210181 RCV000515232 RCV000586783 RCV000499191 RCV001804750 RCV003460494 RCV004528141 RCV003153308
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 Multiple endocrine neoplasia Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA008766	rs_79658334	14 SubmittersRCV000014973 RCV000021854 RCV000354366 RCV000487450 RCV000561258 RCV000596480
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)	SNV Germline	Chr10:43126651	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Aganglionic megacolon Hereditary cancer-predisposing syndrome 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 not specified	Criteria Provided Conflicting Classifications	CA009200	rs_79853121	8 SubmittersRCV000014975 RCV000411688 RCV000410425 RCV000148783 RCV000563865 RCV000704911 RCV002490367 RCV003398513
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/somatic	Chr10:43120144	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma Hereditary cancer-predisposing syndrome MEN2 phenotype: Unclassified Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia II Medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA008989	rs_75234356	22 SubmittersRCV000014979 RCV000014978 RCV000227193 RCV000394478 RCV000431535 RCV000425892 RCV000441854 RCV000445273 RCV001016276 RCV001804732 RCV002490368 RCV003387503 RCV004566743
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 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008190	rs_377767406	6 SubmittersRCV000519407 RCV000564566 RCV000696792 RCV001818172 RCV002477000 RCV003460488
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	SNV Germline	Chr10:43114596	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008502	rs_143795581	11 SubmittersRCV000021838 RCV000148771 RCV002496436 RCV004018657 RCV002466411 RCV000567780 RCV001582493
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 Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B RET-related disorder Familial medullary thyroid carcinoma Pheochromocytoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA008525	rs_146646971	20 SubmittersRCV000082052 RCV000174156 RCV000467461 RCV000570730 RCV001027731 RCV001535750 RCV001818173 RCV002477001 RCV003335051 RCV003458339 RCV003460489
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 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008797	rs_377767420	8 SubmittersRCV000148782 RCV000410539 RCV000411157 RCV000571277 RCV000799360 RCV002490401 RCV003460490
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 2A Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 not specified Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA008837	rs_149891333	11 SubmittersRCV000148778 RCV000575365 RCV000662511 RCV000691895 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	Criteria Provided Conflicting Classifications	CA008877	rs_55947360	10 SubmittersRCV000205855 RCV000575953 RCV000662363 RCV001292765 RCV001574570 RCV003466869
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)	SNV Germline	Chr10:43118458	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA008709	rs_75030001	24 SubmittersRCV000163610 RCV000539138 RCV000339507 RCV000709758 RCV000984325 RCV003466882 RCV003483444
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 Hereditary cancer-predisposing syndrome 6 conditions Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma not specified	Criteria Provided Conflicting Classifications	CA008940	rs_145170911	11 SubmittersRCV000034773 RCV000123312 RCV000410572 RCV000562304 RCV000763649 RCV000409480 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 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Conflicting Classifications	CA009156	rs_199718928	9 SubmittersRCV000034775 RCV000409131 RCV000568654 RCV000411986 RCV000458385 RCV001104858 RCV001104859 RCV001104860 RCV001104857 RCV002477061
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 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA007718	rs_140464432	7 SubmittersRCV000119225 RCV000355156 RCV000662493 RCV000564831 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 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008622	rs_181856591	10 SubmittersRCV000121979 RCV000202914 RCV000410377 RCV000411486 RCV000573705 RCV000462996 RCV002492438 RCV003151746 RCV003460858
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 Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA009176	rs_201244749	5 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 Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009263	rs_149403911	4 SubmittersRCV000121989 RCV000795345 RCV002483230 RCV002336267
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 Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA007539	rs_549907428	9 SubmittersRCV000123295 RCV000572664 RCV000761174 RCV002466439 RCV003460874 RCV002483237 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 RET-related disorder 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	CA007695	rs_374461212	10 SubmittersRCV000123300 RCV000662401 RCV001012544 RCV001762280 RCV004542930 RCV002483238 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 Pheochromocytoma Renal hypodysplasia/aplasia 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia type 2A RET-related disorder	Criteria Provided Conflicting Classifications	CA007711	rs_147219360	15 SubmittersRCV000163453 RCV000455280 RCV000727068 RCV001081705 RCV001104479 RCV001107242 RCV001107243 RCV002272134 RCV001104478 RCV003153409 RCV004542931
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 Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Condition: not provided Hirschsprung disease, susceptibility to, 1 Hereditary cancer	Criteria Provided Conflicting Classifications	CA008592	rs_527726480	7 SubmittersRCV000123307 RCV000562548 RCV002483239 RCV003159099 RCV003467095 RCV003492551
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 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA009280	rs_370736139	8 SubmittersRCV000148786 RCV000197537 RCV000410075 RCV000412078 RCV001024031 RCV001294034 RCV003736605
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 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA007417	rs_777716061	4 SubmittersRCV000167232 RCV000553159 RCV002485039
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 Familial medullary thyroid carcinoma Pheochromocytoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA010953	rs_532862288	9 SubmittersRCV000456051 RCV000463602 RCV000662469 RCV001019923 RCV002478618 RCV003462290
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 Condition: not provided not specified Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Ovarian cancer Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA043648	rs_79014735	11 SubmittersRCV000197380 RCV000571944 RCV000679750 RCV000678743 RCV000662413 RCV002503785 RCV003153474 RCV003462339
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 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA040885	rs_774215008	5 SubmittersRCV000196286 RCV002433890 RCV002478713 RCV003441780
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 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided RET-related disorder	Criteria Provided Conflicting Classifications	CA044503	rs_760813493	6 SubmittersRCV000206221 RCV000571565 RCV002494530 RCV003148679 RCV004541291
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 Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA032301	rs_371731991	5 SubmittersRCV000206643 RCV000561732 RCV004567456 RCV002494521 RCV002285278
NM_020975.6(RET):c.-2C>A	SNV Germline	Chr10:43077257	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma RET-related disorder	Criteria Provided Conflicting Classifications	CA10576788	rs_876657980	5 SubmittersRCV000221356 RCV000572702 RCV001580474 RCV002503860 RCV004532763
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)	SNV Germline	Chr1:156876428	Conflicting classifications of pathogenicity	Condition: not provided Hereditary insensitivity to pain with anhidrosis Familial medullary thyroid carcinoma Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1169434	rs_764417252	5 SubmittersRCV000221544 RCV001276831 RCV000708820 RCV002399797
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 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma 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 RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA036775	rs_146646971	11 SubmittersRCV000219014 RCV000556223 RCV001589145 RCV002265692 RCV002463360 RCV003137821 RCV003462451 RCV004532784
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 Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA036607	rs_377767411	9 SubmittersRCV000229577 RCV000662388 RCV001292757 RCV002508206 RCV002411060 RCV002487084 RCV003463677
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 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA041961	rs_763489828	6 SubmittersRCV000234755 RCV000992303 RCV001018013 RCV003463678 RCV002500811
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 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA042623	rs_200021472	7 SubmittersRCV000228519 RCV000567853 RCV001589196 RCV001820760 RCV002500812 RCV004567757
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)	SNV Germline	Chr1:156873722	Conflicting classifications of pathogenicity	Condition: not provided Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis	Criteria Provided Conflicting Classifications	CA1169147	rs_137994522	4 SubmittersRCV000237064 RCV000708814 RCV001079270
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)	SNV Germline	Chr1:156868245	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Familial medullary thyroid carcinoma Condition: not provided Inborn genetic diseases NTRK1-related disorder	Criteria Provided Conflicting Classifications	CA1169019	rs_138608619	6 SubmittersRCV000291812 RCV000708810 RCV001509068 RCV002348032 RCV003897665
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 Ovarian cancer Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA034653	rs_543376293	8 SubmittersRCV000260802 RCV000263988 RCV000305137 RCV000359923 RCV000573672 RCV000697839 RCV001252827 RCV003153554 RCV002480091
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)	SNV Germline	Chr10:43119626	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A RET-related disorder	Criteria Provided Conflicting Classifications	CA039416	rs_200127630	6 SubmittersRCV000410477 RCV000409178 RCV000704852 RCV002429338 RCV002505998 RCV004529566
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 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA041492	rs_758800351	6 SubmittersRCV000468043 RCV001017564 RCV002506101 RCV003463859 RCV003221984
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	Criteria Provided Conflicting Classifications	CA043905	rs_759229505	5 SubmittersRCV000473800 RCV001294033 RCV002348280 RCV003322771
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu)	SNV Germline	Chr1:156874392	Conflicting classifications of pathogenicity	Hereditary insensitivity to pain with anhidrosis Familial medullary thyroid carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA1169221	rs_199646180	3 SubmittersRCV000555707 RCV000708816 RCV003409766
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 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA376770372	rs_1318325737	4 SubmittersRCV000528844 RCV001015313 RCV002483498
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 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA044641	rs_145970248	3 SubmittersRCV000557609 RCV001026272 RCV002506371
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)	SNV Germline	Chr10:43113594	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA035694	rs_745418960	4 SubmittersRCV000549713 RCV001013214 RCV001107244 RCV001107246 RCV001107245 RCV001107247 RCV002491103
NM_020975.6(RET):c.2305C>T (p.Leu769=)	SNV Germline	Chr10:43118393	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA038497	rs_142793711	3 SubmittersRCV000551339 RCV002476201 RCV003228955
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 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA054768	rs_760625882	4 SubmittersRCV000535690 RCV001294031 RCV001811073 RCV002448801
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 Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA036871	rs_776986585	4 SubmittersRCV000566339 RCV001359410 RCV003222050 RCV002491139
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 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA043742	rs_150261092	6 SubmittersRCV000575489 RCV000812605 RCV002483540 RCV000709102 RCV001764690 RCV003459399
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 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA044654	rs_780756440	4 SubmittersRCV000568616 RCV002506384 RCV001227818 RCV003459398
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 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA031579	rs_754116867	7 SubmittersRCV000567474 RCV000802145 RCV002476249 RCV003225093 RCV004569289
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 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA038434	rs_748799148	4 SubmittersRCV000576114 RCV000654575 RCV002476250
NM_020975.6(RET):c.2393-5C>T	SNV Germline	Chr10:43119526	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA658797418	rs_1554819512	4 SubmittersRCV000615821 RCV001433390 RCV002476358 RCV003352939
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 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA040313	rs_373594744	9 SubmittersRCV000654581 RCV000708758 RCV002477456 RCV003313129 RCV002284418 RCV003459554
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 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Conflicting Classifications	CA054755	rs_775583354	7 SubmittersRCV000654601 RCV000663067 RCV001019124 RCV002284419 RCV002507130
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 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Conflicting Classifications		rs_774829203	6 SubmittersRCV000663096 RCV000818592 RCV002343411 RCV002485508
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 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications		rs_898525501	6 SubmittersRCV000679753 RCV001066218 RCV003459652 RCV002352100 RCV002499197
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 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Conflicting Classifications		rs_138265837	4 SubmittersRCV000688498 RCV001021592 RCV002469258 RCV002485619
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)	SNV Germline	Chr10:43114729	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications		rs_774983492	8 SubmittersRCV000709118 RCV000703840 RCV000708756 RCV001104665 RCV001104666 RCV001104667 RCV001104668 RCV002499266
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 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_779905135	7 SubmittersRCV000807337 RCV002424881 RCV002495105 RCV003148868 RCV004569642
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 Familial medullary thyroid carcinoma Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications		rs_756216318	6 SubmittersRCV000819920 RCV001788362 RCV002363147 RCV002495168 RCV003130074
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 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1352006130	4 SubmittersRCV000811746 RCV002453836 RCV002495126 RCV003461202
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 Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications		rs_145966037	4 SubmittersRCV001011134 RCV001070712 RCV002481819
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 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		rs_144730090	4 SubmittersRCV001056445 RCV002445297 RCV002482014 RCV003238833
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 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B RET-related disorder	Criteria Provided Conflicting Classifications		rs_1013952995	4 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 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications		rs_756761746	5 SubmittersRCV001206433 RCV002256697 RCV002484114
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 Familial medullary thyroid carcinoma Pheochromocytoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Ovarian cancer	Criteria Provided Conflicting Classifications		rs_1313331250	5 SubmittersRCV001228900 RCV002393566 RCV002497777 RCV003153952
NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys)	SNV Germline	Chr1:156876535	Likely pathogenic	Hereditary insensitivity to pain with anhidrosis Familial medullary thyroid carcinoma	No Assertion Criteria Provided		rs_1647927494	1 SubmittersRCV001257443
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 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications		rs_9282835	5 SubmittersRCV001566899 RCV001866004 RCV002414269 RCV002488386
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)	SNV Germline	Chr10:43112868	Likely pathogenic	Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002403881 RCV003492764

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007995

rs_76262710

13 SubmittersRCV000014919 RCV000228834 RCV000522833 RCV000762807 RCV002408462 RCV002470710

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

SNV
Germline

Chr10:43114500

Pathogenic

Multiple endocrine neoplasia type 2A
Pheochromocytoma
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

9 SubmittersRCV000014922 RCV000014923 RCV000182581 RCV000654584 RCV001013616 RCV001310209 RCV001420921

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

SNV
Germline

Chr10:43114501

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008370

rs_75996173

6 SubmittersRCV000014929 RCV000014930 RCV000014928 RCV000471652 RCV002408463 RCV003237413

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

SNV
Germline

Chr10:43113649

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

CA008013

rs_79781594

12 SubmittersRCV000014933 RCV000014934 RCV000082050 RCV000161938 RCV001013348

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

SNV
Germline/somatic

Chr10:43121968

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia type 2B
Thyroid carcinoma, sporadic medullary
Pheochromocytoma
Condition: not provided
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 4
8 conditions
Multiple endocrine neoplasia, type 1
Thyroid tumor
not specified
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
RET-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA009082

rs_74799832

34 SubmittersRCV000014941 RCV000014942 RCV000014943 RCV000082054 RCV000161926 RCV000175096 RCV000417859 RCV000444529 RCV000415312 RCV000425499 RCV000428538 RCV000999916 RCV001292662 RCV001542764 RCV002255998 RCV004532351

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

SNV
Germline/somatic

Chr10:43113648

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia, type 1
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007985

rs_76262710

12 SubmittersRCV000014954 RCV000021792 RCV000114391 RCV000345209 RCV000434685 RCV000442341 RCV000427260 RCV000444839 RCV002256000

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

SNV
Germline/somatic

Chr10:43118392

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Neoplasm
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 4
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008641

rs_78014899

6 SubmittersRCV000014956 RCV000021842 RCV000431893 RCV000432579 RCV000439063 RCV000421871 RCV000426010 RCV000445341 RCV001015022 RCV001811141 RCV002280861

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

SNV
Germline/somatic

Chr10:43113622

Pathogenic

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
Condition: not provided
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 1
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 4
Hereditary cancer-predisposing syndrome
RET-related disorder
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007824

rs_77939446

19 SubmittersRCV000014958 RCV000082049 RCV000168107 RCV000173889 RCV000441078 RCV000496009 RCV000424503 RCV000431942 RCV000509116 RCV000444552 RCV000562113 RCV004532352 RCV003460480

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008702

rs_75030001

8 SubmittersRCV000014960 RCV000014961 RCV000021849 RCV000182583 RCV002453262

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
Multiple endocrine neoplasia
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia type 2B
Aganglionic megacolon
Multiple endocrine neoplasia, type 2
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA009143

rs_17158558

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

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
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA008085

rs_77503355

7 SubmittersRCV000014970 RCV000021802 RCV000489707 RCV001013426 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

Criteria Provided
Multiple Submitters
No Conflicts

CA007804

rs_77558292

5 SubmittersRCV000014971 RCV000414355 RCV000736274 RCV001013275 RCV001851862

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
7 conditions
MEN2 phenotype: Unclassified
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
RET-related disorder
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA008751

rs_79658334

39 SubmittersRCV000148773 RCV000182584 RCV000210181 RCV000515232 RCV000586783 RCV000499191 RCV001804750 RCV003460494 RCV004528141 RCV003153308

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008766

rs_79658334

14 SubmittersRCV000014973 RCV000021854 RCV000354366 RCV000487450 RCV000561258 RCV000596480

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

SNV
Germline

Chr10:43126651

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009200

rs_79853121

8 SubmittersRCV000014975 RCV000411688 RCV000410425 RCV000148783 RCV000563865 RCV000704911 RCV002490367 RCV003398513

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/somatic

Chr10:43120144

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Condition: not provided
Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 1
Medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
MEN2 phenotype: Unclassified
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia II
Medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008989

rs_75234356

22 SubmittersRCV000014979 RCV000014978 RCV000227193 RCV000394478 RCV000431535 RCV000425892 RCV000441854 RCV000445273 RCV001016276 RCV001804732 RCV002490368 RCV003387503 RCV004566743

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

Criteria Provided
Conflicting Classifications

CA008190

rs_377767406

6 SubmittersRCV000519407 RCV000564566 RCV000696792 RCV001818172 RCV002477000 RCV003460488

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

SNV
Germline

Chr10:43114596

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008502

rs_143795581

11 SubmittersRCV000021838 RCV000148771 RCV002496436 RCV004018657 RCV002466411 RCV000567780 RCV001582493

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008525

rs_146646971

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

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

Criteria Provided
Conflicting Classifications

CA008797

rs_377767420

8 SubmittersRCV000148782 RCV000410539 RCV000411157 RCV000571277 RCV000799360 RCV002490401 RCV003460490

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

Criteria Provided
Conflicting Classifications

CA008837

rs_149891333

11 SubmittersRCV000148778 RCV000575365 RCV000662511 RCV000691895 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

Criteria Provided
Conflicting Classifications

CA008877

rs_55947360

10 SubmittersRCV000205855 RCV000575953 RCV000662363 RCV001292765 RCV001574570 RCV003466869

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

SNV
Germline

Chr10:43118458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008709

rs_75030001

24 SubmittersRCV000163610 RCV000539138 RCV000339507 RCV000709758 RCV000984325 RCV003466882 RCV003483444

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

Criteria Provided
Conflicting Classifications

CA008940

rs_145170911

11 SubmittersRCV000034773 RCV000123312 RCV000410572 RCV000562304 RCV000763649 RCV000409480 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 2A
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 2
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA009156

rs_199718928

9 SubmittersRCV000034775 RCV000409131 RCV000568654 RCV000411986 RCV000458385 RCV001104858 RCV001104859 RCV001104860 RCV001104857 RCV002477061

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

Criteria Provided
Conflicting Classifications

CA007718

rs_140464432

7 SubmittersRCV000119225 RCV000355156 RCV000662493 RCV000564831 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
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Condition: not provided
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA008622

rs_181856591

10 SubmittersRCV000121979 RCV000202914 RCV000410377 RCV000411486 RCV000573705 RCV000462996 RCV002492438 RCV003151746 RCV003460858

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

Criteria Provided
Conflicting Classifications

CA009176

rs_201244749

5 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
Pheochromocytoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009263

rs_149403911

4 SubmittersRCV000121989 RCV000795345 RCV002483230 RCV002336267

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

Criteria Provided
Conflicting Classifications

CA007539

rs_549907428

9 SubmittersRCV000123295 RCV000572664 RCV000761174 RCV002466439 RCV003460874 RCV002483237 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
RET-related disorder
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

CA007695

rs_374461212

10 SubmittersRCV000123300 RCV000662401 RCV001012544 RCV001762280 RCV004542930 RCV002483238 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
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia
Multiple endocrine neoplasia type 2A
RET-related disorder

Criteria Provided
Conflicting Classifications

CA007711

rs_147219360

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

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

Criteria Provided
Conflicting Classifications

CA008592

rs_527726480

7 SubmittersRCV000123307 RCV000562548 RCV002483239 RCV003159099 RCV003467095 RCV003492551

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

Criteria Provided
Conflicting Classifications

CA009280

rs_370736139

8 SubmittersRCV000148786 RCV000197537 RCV000410075 RCV000412078 RCV001024031 RCV001294034 RCV003736605

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

Criteria Provided
Conflicting Classifications

CA007417

rs_777716061

4 SubmittersRCV000167232 RCV000553159 RCV002485039

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
Familial medullary thyroid carcinoma
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA010953

rs_532862288

9 SubmittersRCV000456051 RCV000463602 RCV000662469 RCV001019923 RCV002478618 RCV003462290

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

Criteria Provided
Conflicting Classifications

CA043648

rs_79014735

11 SubmittersRCV000197380 RCV000571944 RCV000679750 RCV000678743 RCV000662413 RCV002503785 RCV003153474 RCV003462339

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

Criteria Provided
Conflicting Classifications

CA040885

rs_774215008

5 SubmittersRCV000196286 RCV002433890 RCV002478713 RCV003441780

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

Criteria Provided
Conflicting Classifications

CA044503

rs_760813493

6 SubmittersRCV000206221 RCV000571565 RCV002494530 RCV003148679 RCV004541291

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

Criteria Provided
Conflicting Classifications

CA032301

rs_371731991

5 SubmittersRCV000206643 RCV000561732 RCV004567456 RCV002494521 RCV002285278

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

SNV
Germline

Chr10:43077257

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10576788

rs_876657980

5 SubmittersRCV000221356 RCV000572702 RCV001580474 RCV002503860 RCV004532763

NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)

SNV
Germline

Chr1:156876428

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary insensitivity to pain with anhidrosis
Familial medullary thyroid carcinoma
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1169434

rs_764417252

5 SubmittersRCV000221544 RCV001276831 RCV000708820 RCV002399797

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 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
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
RET-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA036775

rs_146646971

11 SubmittersRCV000219014 RCV000556223 RCV001589145 RCV002265692 RCV002463360 RCV003137821 RCV003462451 RCV004532784

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

Criteria Provided
Conflicting Classifications

CA036607

rs_377767411

9 SubmittersRCV000229577 RCV000662388 RCV001292757 RCV002508206 RCV002411060 RCV002487084 RCV003463677

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

Criteria Provided
Conflicting Classifications

CA041961

rs_763489828

6 SubmittersRCV000234755 RCV000992303 RCV001018013 RCV003463678 RCV002500811

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

Criteria Provided
Conflicting Classifications

CA042623

rs_200021472

7 SubmittersRCV000228519 RCV000567853 RCV001589196 RCV001820760 RCV002500812 RCV004567757

NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)

SNV
Germline

Chr1:156873722

Conflicting classifications of pathogenicity

Condition: not provided
Familial medullary thyroid carcinoma
Hereditary insensitivity to pain with anhidrosis

Criteria Provided
Conflicting Classifications

CA1169147

rs_137994522

4 SubmittersRCV000237064 RCV000708814 RCV001079270

NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)

SNV
Germline

Chr1:156868245

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Familial medullary thyroid carcinoma
Condition: not provided
Inborn genetic diseases
NTRK1-related disorder

Criteria Provided
Conflicting Classifications

CA1169019

rs_138608619

6 SubmittersRCV000291812 RCV000708810 RCV001509068 RCV002348032 RCV003897665

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

Criteria Provided
Conflicting Classifications

CA034653

rs_543376293

8 SubmittersRCV000260802 RCV000263988 RCV000305137 RCV000359923 RCV000573672 RCV000697839 RCV001252827 RCV003153554 RCV002480091

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

SNV
Germline

Chr10:43119626

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039416

rs_200127630

6 SubmittersRCV000410477 RCV000409178 RCV000704852 RCV002429338 RCV002505998 RCV004529566

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

Criteria Provided
Conflicting Classifications

CA041492

rs_758800351

6 SubmittersRCV000468043 RCV001017564 RCV002506101 RCV003463859 RCV003221984

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

Criteria Provided
Conflicting Classifications

CA043905

rs_759229505

5 SubmittersRCV000473800 RCV001294033 RCV002348280 RCV003322771

NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu)

SNV
Germline

Chr1:156874392

Conflicting classifications of pathogenicity

Hereditary insensitivity to pain with anhidrosis
Familial medullary thyroid carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1169221

rs_199646180

3 SubmittersRCV000555707 RCV000708816 RCV003409766

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
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA376770372

rs_1318325737

4 SubmittersRCV000528844 RCV001015313 RCV002483498

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
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA044641

rs_145970248

3 SubmittersRCV000557609 RCV001026272 RCV002506371

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

SNV
Germline

Chr10:43113594

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035694

rs_745418960

4 SubmittersRCV000549713 RCV001013214 RCV001107244 RCV001107246 RCV001107245 RCV001107247 RCV002491103

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

SNV
Germline

Chr10:43118393

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038497

rs_142793711

3 SubmittersRCV000551339 RCV002476201 RCV003228955

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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA054768

rs_760625882

4 SubmittersRCV000535690 RCV001294031 RCV001811073 RCV002448801

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

Criteria Provided
Conflicting Classifications

CA036871

rs_776986585

4 SubmittersRCV000566339 RCV001359410 RCV003222050 RCV002491139

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

Criteria Provided
Conflicting Classifications

CA043742

rs_150261092

6 SubmittersRCV000575489 RCV000812605 RCV002483540 RCV000709102 RCV001764690 RCV003459399

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

Criteria Provided
Conflicting Classifications

CA044654

rs_780756440

4 SubmittersRCV000568616 RCV002506384 RCV001227818 RCV003459398

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

Criteria Provided
Conflicting Classifications

CA031579

rs_754116867

7 SubmittersRCV000567474 RCV000802145 RCV002476249 RCV003225093 RCV004569289

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

Criteria Provided
Conflicting Classifications

CA038434

rs_748799148

4 SubmittersRCV000576114 RCV000654575 RCV002476250

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

SNV
Germline

Chr10:43119526

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658797418

rs_1554819512

4 SubmittersRCV000615821 RCV001433390 RCV002476358 RCV003352939

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

Criteria Provided
Conflicting Classifications

CA040313

rs_373594744

9 SubmittersRCV000654581 RCV000708758 RCV002477456 RCV003313129 RCV002284418 RCV003459554

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
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA054755

rs_775583354

7 SubmittersRCV000654601 RCV000663067 RCV001019124 RCV002284419 RCV002507130

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

Criteria Provided
Conflicting Classifications

rs_774829203

6 SubmittersRCV000663096 RCV000818592 RCV002343411 RCV002485508

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

Criteria Provided
Conflicting Classifications

rs_898525501

6 SubmittersRCV000679753 RCV001066218 RCV003459652 RCV002352100 RCV002499197

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

Criteria Provided
Conflicting Classifications

rs_138265837

4 SubmittersRCV000688498 RCV001021592 RCV002469258 RCV002485619

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

SNV
Germline

Chr10:43114729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_774983492

8 SubmittersRCV000709118 RCV000703840 RCV000708756 RCV001104665 RCV001104666 RCV001104667 RCV001104668 RCV002499266

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

Criteria Provided
Conflicting Classifications

rs_779905135

7 SubmittersRCV000807337 RCV002424881 RCV002495105 RCV003148868 RCV004569642

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
Familial medullary thyroid carcinoma
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756216318

6 SubmittersRCV000819920 RCV001788362 RCV002363147 RCV002495168 RCV003130074

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

Criteria Provided
Conflicting Classifications

rs_1352006130

4 SubmittersRCV000811746 RCV002453836 RCV002495126 RCV003461202

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

Criteria Provided
Conflicting Classifications

rs_145966037

4 SubmittersRCV001011134 RCV001070712 RCV002481819

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
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

rs_144730090

4 SubmittersRCV001056445 RCV002445297 RCV002482014 RCV003238833

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

Criteria Provided
Conflicting Classifications

rs_1013952995

4 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
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

rs_756761746

5 SubmittersRCV001206433 RCV002256697 RCV002484114

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

Criteria Provided
Conflicting Classifications

rs_1313331250

5 SubmittersRCV001228900 RCV002393566 RCV002497777 RCV003153952

NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys)

SNV
Germline

Chr1:156876535

Likely pathogenic

Hereditary insensitivity to pain with anhidrosis
Familial medullary thyroid carcinoma

No Assertion Criteria Provided

rs_1647927494

1 SubmittersRCV001257443

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

Criteria Provided
Conflicting Classifications

rs_9282835

5 SubmittersRCV001566899 RCV001866004 RCV002414269 RCV002488386

NM_020975.6(RET):c.1664T>G (p.Phe555Cys)

SNV
Germline

Chr10:43112868

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002403881 RCV003492764