Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003924.4(PHOX2B):c.421C>G (p.Arg141Gly)	SNV Germline	Chr4:41747357	Pathogenic	Hirschsprung disease-ganglioneuroblastoma syndrome	No Assertion Criteria Provided	CA117905	rs_28939716	1 SubmittersRCV000006383
NM_001397.3(ECE1):c.2260C>T (p.Arg754Cys)	SNV Germline	Chr1:21220008	Pathogenic	Hirschsprung disease, cardiac defects, and autonomic dysfunction	No Assertion Criteria Provided	CA120130	rs_3026906	1 SubmittersRCV000009704
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)	SNV Germline	Chr7:41967908	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Hirschsprung disease, susceptibility to, 1 not specified Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA256987	rs_121917716	8 SubmittersRCV000014843 RCV000508658 RCV000500441 RCV000542657 RCV000782254
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)	SNV Germline	Chr10:43113648	Pathogenic	Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 2 6 conditions Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA007995	rs_76262710	14 SubmittersRCV000014919 RCV000522833 RCV000228834 RCV000762807 RCV004760333 RCV002408462 RCV002470710
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	SNV Germline	Chr10:43114501	Pathogenic	Pheochromocytoma Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 RET-related disorder Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008348	rs_75996173	24 SubmittersRCV000014925 RCV000182582 RCV000014924 RCV000425364 RCV000129490 RCV000476408 RCV003989285 RCV004739307 RCV005394154
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)	SNV Germline	Chr10:43113654	Pathogenic	Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Aganglionic megacolon Multiple endocrine neoplasia, type 2 Aganglionic megacolon Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA008055	rs_77316810	15 SubmittersRCV000014935 RCV000182580 RCV000232285 RCV000568259 RCV000736276 RCV000826204 RCV003324711
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)	SNV Germline	Chr10:43113655	Pathogenic	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided Aganglionic megacolon Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA008076	rs_77503355	10 SubmittersRCV000014936 RCV000021801 RCV000413879 RCV000678747 RCV002408464 RCV005394155
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	SNV Germline	Chr10:43114500	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia type 2A Pheochromocytoma Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Thyroid gland carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008315	rs_75076352	23 SubmittersRCV000014937 RCV000014938 RCV000082051 RCV000163338 RCV000552504 RCV000677899 RCV003460479 RCV004795411 RCV004739308
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 2A Multiple endocrine neoplasia, type 2 Medullary thyroid carcinoma 8 conditions Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome RET-related disorder Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA009082	rs_74799832	39 SubmittersRCV000014941 RCV000014942 RCV000014943 RCV000082054 RCV000175096 RCV000161926 RCV000417859 RCV000415312 RCV001292662 RCV001542764 RCV002255998 RCV004532351 RCV005394156
NM_020975.6(RET):c.2914A>G (p.Arg972Gly)	SNV Germline	Chr10:43123783	Likely pathogenic	Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Single Submitter	CA009130	rs_76534745	2 SubmittersRCV000014947 RCV005042054
NM_020975.6(RET):c.95C>T (p.Ser32Leu)	SNV Germline	Chr10:43100480	Likely pathogenic	Hirschsprung disease, susceptibility to, 1 Aganglionic megacolon Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA009398	rs_76764689	3 SubmittersRCV000014948 RCV000678742 RCV002514098
NM_020975.6(RET):c.538C>T (p.Arg180Ter)	SNV Germline	Chr10:43102542	Pathogenic	Hirschsprung disease, susceptibility to, 1 RET-related disorder Multiple endocrine neoplasia, type 2	Criteria Provided Single Submitter	CA009273	rs_76449634	3 SubmittersRCV000014950 RCV004528111 RCV001206325
NM_020975.6(RET):c.989G>A (p.Arg330Gln)	SNV Germline	Chr10:43106497	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia, type 2 Condition: not provided Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Conflicting Classifications	CA009415	rs_80236571	6 SubmittersRCV000014951 RCV001379274 RCV004696636 RCV005394157
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)	SNV Germline	Chr10:43113655	Pathogenic	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA008094	rs_77503355	15 SubmittersRCV000014953 RCV000233944 RCV000411165 RCV000485714 RCV002255999 RCV005394158
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)	SNV Germline	Chr10:43113622	Pathogenic	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA007824	rs_77939446	20 SubmittersRCV000014958 RCV000168107 RCV000082049 RCV000173889 RCV000562113 RCV000496009 RCV000509116 RCV003460480 RCV004532352
NM_020975.6(RET):c.1860C>G (p.Cys620Trp)	SNV Germline	Chr10:43113656	Pathogenic	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008105	rs_79890926	4 SubmittersRCV000014959 RCV000021789 RCV000566125 RCV002272020
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	SNV Germline	Chr10:43118460	Conflicting classifications of pathogenicity	Pheochromocytoma Familial medullary thyroid carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Aganglionic megacolon not specified Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Renal hypodysplasia/aplasia 1 Familial cancer of breast Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008726	rs_77724903	26 SubmittersRCV000014963 RCV000014962 RCV000034771 RCV000130367 RCV000148769 RCV000235206 RCV000312825 RCV000370653 RCV000436831 RCV000431156 RCV000400976 RCV000754613 RCV001083710 RCV005394159
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	SNV Germline	Chr10:43124887	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Condition: not provided not specified Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Aganglionic megacolon Multiple endocrine neoplasia, type 2 Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA009143	rs_17158558	33 SubmittersRCV000014965 RCV000034774 RCV000082055 RCV000202663 RCV000162949 RCV000238890 RCV000320112 RCV000354936 RCV000410308 RCV000411820 RCV000736279 RCV001080524 RCV001269493 RCV001822995 RCV005394160
NM_020975.6(RET):c.1941C>T (p.Ile647=)	SNV Germline	Chr10:43114541	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A not specified	Criteria Provided Conflicting Classifications	CA008451	rs_75225191	9 SubmittersRCV000014966 RCV000220871 RCV000519499 RCV001085461 RCV000988344 RCV005434602
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 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA008751	rs_79658334	45 SubmittersRCV000148773 RCV000182584 RCV000210181 RCV000515232 RCV000586783 RCV000499191 RCV001804750 RCV003460494 RCV004528141 RCV005209488 RCV004795938 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 Familial medullary thyroid carcinoma Multiple endocrine neoplasia Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA008766	rs_79658334	16 SubmittersRCV000014973 RCV000021854 RCV000354366 RCV000487450 RCV000596480 RCV000561258 RCV005394161
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)	SNV Germline	Chr10:43126651	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Aganglionic megacolon Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Pheochromocytoma not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA009200	rs_79853121	9 SubmittersRCV000014975 RCV000148783 RCV000410425 RCV000563865 RCV000704911 RCV000411688 RCV002490367 RCV003398513 RCV005089259
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)	SNV Germline	Chr10:43120144	Pathogenic	Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Medullary thyroid carcinoma Multiple endocrine neoplasia II Hirschsprung disease, susceptibility to, 1 MEN2 phenotype: Unclassified RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008989	rs_75234356	26 SubmittersRCV000014978 RCV000014979 RCV000394478 RCV000227193 RCV000425892 RCV001016276 RCV002490368 RCV003387503 RCV004566743 RCV001804732 RCV004724743
NM_020975.6(RET):c.2332G>A (p.Val778Ile)	SNV Germline	Chr10:43118420	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Pheochromocytoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008677	rs_75686697	4 SubmittersRCV000014983 RCV000206045 RCV000562190 RCV001105834 RCV001108067 RCV001105833
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)	SNV Germline	Chr13:77901181	Conflicting classifications of pathogenicity	Waardenburg syndrome type 4A Hirschsprung disease, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA126743	rs_104894387	3 SubmittersRCV000018113 RCV000018112 RCV003236768
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)	SNV Germline	Chr13:77918405	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA257561	rs_1801710	10 SubmittersRCV000018117 RCV000216329 RCV000224294
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)	SNV Germline	Chr13:77901095	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 not specified Waardenburg syndrome type 2A Waardenburg syndrome type 4A Condition: not provided Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant ABCD syndrome Hirschsprung disease, susceptibility to, 2 Waardenburg syndrome type 4A	Criteria Provided Conflicting Classifications	CA257563	rs_5352	13 SubmittersRCV000018118 RCV000222856 RCV000626404 RCV000659497 RCV000954472 RCV001258252 RCV005394165
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)	SNV Germline	Chr20:59300861	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 4 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA126748	rs_11570255	9 SubmittersRCV000018126 RCV000222596 RCV000950863
NM_020975.6(RET):c.874G>A (p.Val292Met)	SNV Germline	Chr10:43106382	Conflicting classifications of pathogenicity	Condition: not provided not specified Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hereditary cancer Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA009374	rs_34682185	17 SubmittersRCV000034779 RCV000121992 RCV000276548 RCV000333869 RCV000354891 RCV000367517 RCV000755685 RCV000565970 RCV001083006 RCV003492298 RCV005425702
NM_020975.6(RET):c.961G>A (p.Gly321Arg)	SNV Germline	Chr10:43106469	Conflicting classifications of pathogenicity	Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A not specified Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA009403	rs_377767388	12 SubmittersRCV000148776 RCV000231209 RCV000567555 RCV000679758 RCV000709104 RCV001818171 RCV003460487 RCV004528128
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)	SNV Germline	Chr10:43112173	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA007667	rs_75873440	12 SubmittersRCV000411509 RCV000409959 RCV000465806 RCV000573056 RCV001107801 RCV001107802 RCV001102551 RCV001102550 RCV005394170 RCV004791232
NM_020975.6(RET):c.1760-12G>A	SNV Germline	Chr10:43113544	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Hirschsprung Disease, Dominant Pheochromocytoma Multiple endocrine neoplasia Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA007734	rs_377767392	6 SubmittersRCV000315977 RCV000330417 RCV000375196 RCV000261911 RCV000663117 RCV004017260 RCV000679724 RCV002054468
NM_020975.6(RET):c.1867G>A (p.Glu623Lys)	SNV Germline	Chr10:43113663	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA008114	rs_377767402	7 SubmittersRCV000988343 RCV001369787 RCV001762053 RCV000575097 RCV005031447
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)	SNV Germline	Chr10:43114491	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008190	rs_377767406	8 SubmittersRCV000696792 RCV001818172 RCV000564566 RCV000519407 RCV004786279 RCV002477000 RCV003460488
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)	SNV Germline	Chr10:43114494	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008256	rs_377767407	15 SubmittersRCV000411403 RCV000409907 RCV000526155 RCV000708754 RCV001811195 RCV005031448
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)	SNV Germline	Chr10:43114546	Conflicting classifications of pathogenicity	not specified Elevated basal serum calcitonin Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Appendicitis	Criteria Provided Conflicting Classifications	CA008470	rs_148935214	23 SubmittersRCV000121978 RCV000148770 RCV000163375 RCV000224141 RCV000663272 RCV001082257 RCV001104575 RCV001104573 RCV001104572 RCV001104574 RCV001533539
NM_020975.6(RET):c.1947G>A (p.Ser649=)	SNV Germline	Chr10:43114547	Pathogenic/Likely pathogenic	6 conditions Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008487	rs_377767412	6 SubmittersRCV000762808 RCV000821103 RCV001353180 RCV000498649 RCV002408474
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	SNV Germline	Chr10:43114596	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008502	rs_143795581	14 SubmittersRCV000021838 RCV000148771 RCV000567780 RCV002466411 RCV002496436 RCV004018657 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 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 RET-related disorder Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008525	rs_146646971	21 SubmittersRCV000082052 RCV000174156 RCV000570730 RCV000467461 RCV001027731 RCV001535750 RCV001818173 RCV002477001 RCV003335051 RCV003460489 RCV003458339
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)	SNV Germline	Chr10:43114671	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA008562	rs_1799939	22 SubmittersRCV000034769 RCV000039052 RCV000162947 RCV000340996 RCV000290703 RCV000385080 RCV000376859 RCV000660243 RCV001083339 RCV003315508
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)	SNV Germline	Chr10:43118459	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 6 conditions not specified Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008719	rs_377767417	10 SubmittersRCV000409436 RCV000411890 RCV000566113 RCV000457504 RCV000764900 RCV001818174 RCV003466868 RCV005042080
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)	SNV Germline	Chr10:43119590	Conflicting classifications of pathogenicity	Medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA008797	rs_377767420	8 SubmittersRCV000148782 RCV000571277 RCV000410539 RCV000411157 RCV000799360 RCV002490401 RCV003460490
NM_020975.6(RET):c.2497C>T (p.Arg833Cys)	SNV Germline	Chr10:43119635	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008813	rs_377767422	8 SubmittersRCV000529442 RCV000567481 RCV000662806 RCV000478761 RCV004566753 RCV005031449
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)	SNV Germline	Chr10:43119660	Conflicting classifications of pathogenicity	Aganglionic megacolon Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided not specified Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008837	rs_149891333	11 SubmittersRCV000148778 RCV000575365 RCV000662511 RCV000691895 RCV000782197 RCV001818175 RCV001535741 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	11 SubmittersRCV000205855 RCV000575953 RCV000662363 RCV001292765 RCV001574570 RCV003466869
NM_020975.6(RET):c.2556C>G (p.Ile852Met)	SNV Germline	Chr10:43119694	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Condition: not provided not specified Hirschsprung disease, susceptibility to, 1 RET-related disorder Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008919	rs_377767426	19 SubmittersRCV000204335 RCV000662415 RCV000566408 RCV000755693 RCV001354419 RCV001818176 RCV003466870 RCV004532395 RCV005031450
NM_020975.6(RET):c.166C>A (p.Leu56Met)	SNV Germline	Chr10:43100551	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Condition: not provided not specified Multiple endocrine neoplasia Aganglionic megacolon Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA007702	rs_145633958	28 SubmittersRCV000030402 RCV000034766 RCV000121985 RCV000202649 RCV000148768 RCV000163266 RCV001108850 RCV001082759 RCV001108849 RCV001108851 RCV005394176
NM_020975.6(RET):c.1880-2A>G	SNV Germline	Chr10:43114478	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA008131	rs_193922699	1 SubmittersRCV000030404
NM_020975.6(RET):c.1013C>T (p.Thr338Ile)	SNV Germline	Chr10:43106521	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Condition: not provided Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA007399	rs_377767433	8 SubmittersRCV000709106 RCV000570795 RCV001046577 RCV004566792 RCV004700294 RCV005042101 RCV001262456
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)	SNV Germline	Chr10:43113648	Pathogenic	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome RET-related disorder Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA007974	rs_76262710	9 SubmittersRCV000032040 RCV000182594 RCV000569893 RCV004532475 RCV003233028 RCV004820824
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)	SNV Germline	Chr10:43118458	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008709	rs_75030001	25 SubmittersRCV000163610 RCV000539138 RCV000339507 RCV003466882 RCV003483444 RCV000709758 RCV000984325
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)	SNV Germline	Chr16:2062557	Conflicting classifications of pathogenicity	Condition: not provided Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 not specified Tuberous sclerosis 2 TSC2-related disorder Isolated focal cortical dysplasia type II Lymphangiomyomatosis Tuberous sclerosis 2	Criteria Provided Conflicting Classifications	CA014394	rs_45484298	27 SubmittersRCV000034643 RCV000054863 RCV000163424 RCV000201296 RCV000122204 RCV000227708 RCV004528161 RCV005394204
NM_020975.6(RET):c.2611G>A (p.Val871Ile)	SNV Germline	Chr10:43120084	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome 6 conditions Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA008940	rs_145170911	12 SubmittersRCV000034773 RCV000123312 RCV000410572 RCV000409480 RCV000562304 RCV000763649 RCV002477060 RCV003387739
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)	SNV Germline	Chr10:43124925	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma Pheochromocytoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA009156	rs_199718928	10 SubmittersRCV000034775 RCV000409131 RCV000568654 RCV000411986 RCV000458385 RCV001104858 RCV001104857 RCV002477061 RCV001104859 RCV001104860
NM_020975.6(RET):c.785T>C (p.Val262Ala)	SNV Germline	Chr10:43105111	Conflicting classifications of pathogenicity	Condition: not provided Aganglionic megacolon not specified Multiple endocrine neoplasia, type 2 Pheochromocytoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Malignant tumor of breast RET-related disorder	Criteria Provided Conflicting Classifications	CA009350	rs_139790943	19 SubmittersRCV000034777 RCV000148775 RCV000223157 RCV000123327 RCV001103897 RCV000663296 RCV001103896 RCV000573525 RCV001103898 RCV001104177 RCV001269367 RCV004528165
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)	SNV Germline	Chr10:43112906	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA007718	rs_140464432	8 SubmittersRCV000119225 RCV000355156 RCV000564831 RCV000662493 RCV002477302
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)	SNV Germline	Chr4:41746135	Conflicting classifications of pathogenicity	not specified Haddad syndrome Condition: not provided Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Neuroblastoma, susceptibility to, 2 Hereditary cancer-predisposing syndrome Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA161478	rs_587778606	6 SubmittersRCV000121807 RCV001210723 RCV000757604 RCV005031628 RCV002354308 RCV004567052
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 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA008622	rs_181856591	12 SubmittersRCV000121979 RCV000202914 RCV000411486 RCV000410377 RCV000462996 RCV000573705 RCV002492438 RCV003151746 RCV003460858 RCV004771463
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)	SNV Germline	Chr10:43118436	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided RET-related disorder Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA008694	rs_587778656	12 SubmittersRCV000121980 RCV000412123 RCV000410090 RCV000540063 RCV000561957 RCV000724767 RCV004530033 RCV003460859 RCV005031629
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)	SNV Germline	Chr10:43126720	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA009211	rs_587778659	9 SubmittersRCV000121983 RCV000409698 RCV000412388 RCV000532140 RCV001577914 RCV002321601 RCV003460860 RCV005049424
NM_020975.6(RET):c.304G>A (p.Asp102Asn)	SNV Germline	Chr10:43100689	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome RET-related disorder Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma	Criteria Provided Conflicting Classifications	CA009176	rs_201244749	5 SubmittersRCV000121987 RCV000554385 RCV000567241 RCV004528836 RCV002483229
NM_020975.6(RET):c.488G>A (p.Arg163Gln)	SNV Germline	Chr10:43102492	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009263	rs_149403911	5 SubmittersRCV000121989 RCV000795345 RCV002483230 RCV002336267
NM_020975.6(RET):c.1438G>A (p.Glu480Lys)	SNV Germline	Chr10:43111381	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA007585	rs_537874538	8 SubmittersRCV000121996 RCV000409013 RCV000410596 RCV000570658 RCV000461515 RCV000758696 RCV001650985
NM_020975.6(RET):c.1573C>T (p.Arg525Trp)	SNV Germline	Chr10:43112149	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma RET-related disorder	Criteria Provided Conflicting Classifications	CA007640	rs_545625150	6 SubmittersRCV000121998 RCV000166496 RCV000476004 RCV004719703 RCV002492439 RCV004528837
NM_020975.6(RET):c.1158G>A (p.Ala386=)	SNV Germline	Chr10:43109125	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma Renal hypodysplasia/aplasia 1 not specified Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia	Criteria Provided Conflicting Classifications	CA007461	rs_373540097	10 SubmittersRCV000123291 RCV000162962 RCV001104296 RCV001107047 RCV000610981 RCV001082022 RCV001104294 RCV000988342 RCV001104295
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 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma RET-related disorder Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA007539	rs_549907428	10 SubmittersRCV000123295 RCV000572664 RCV000761174 RCV002483237 RCV004530053 RCV002466439 RCV003460874
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)	SNV Germline	Chr10:43112218	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma RET-related disorder Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA007695	rs_374461212	11 SubmittersRCV000123300 RCV001012544 RCV000662401 RCV001762280 RCV002483238 RCV004542930 RCV004567066
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)	SNV Germline	Chr10:43112903	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Condition: not provided not specified Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A RET-related disorder	Criteria Provided Conflicting Classifications	CA007711	rs_147219360	16 SubmittersRCV000163453 RCV001104479 RCV000727068 RCV000455280 RCV001107242 RCV001107243 RCV001104478 RCV001081705 RCV002272134 RCV003153409 RCV004542931
NM_020975.6(RET):c.1920C>T (p.Ala640=)	SNV Germline	Chr10:43114520	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 RET-related disorder Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA008434	rs_149768519	7 SubmittersRCV000123303 RCV000562785 RCV001104571 RCV001102661 RCV001102662 RCV001104570 RCV004530055 RCV005394456 RCV005425732
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)	SNV Germline	Chr10:43116613	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma 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.2199C>T (p.Gly733=)	SNV Germline	Chr10:43116646	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	Criteria Provided Conflicting Classifications	CA008595	rs_587780809	5 SubmittersRCV000123308 RCV001014747 RCV005042239
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)	SNV Germline	Chr10:43126647	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Ewing sarcoma of soft tissue Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 not specified Hirschsprung disease, susceptibility to, 1 Condition: not provided Pheochromocytoma Multiple endocrine neoplasia RET-related disorder	Criteria Provided Conflicting Classifications	CA009187	rs_201740483	19 SubmittersRCV000163463 RCV000663277 RCV000761007 RCV001083486 RCV001106025 RCV001818296 RCV001108238 RCV000679744 RCV001106024 RCV001108239 RCV004528841
NM_020975.6(RET):c.3243T>C (p.Asp1081=)	SNV Germline	Chr10:43128167	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B not specified	Criteria Provided Conflicting Classifications	CA010921	rs_144192900	6 SubmittersRCV000123320 RCV000412402 RCV001103047 RCV001103048 RCV001108244 RCV001108245 RCV000570968 RCV000410847 RCV005237562
NM_020975.6(RET):c.3326T>C (p.Met1109Thr)	SNV Germline	Chr10:43128250	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA010962	rs_587780813	6 SubmittersRCV000123321 RCV000573076 RCV000679747 RCV003460875
NM_020975.6(RET):c.335G>A (p.Arg112His)	SNV Germline	Chr10:43100720	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Condition: not provided Pheochromocytoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA009221	rs_587780814	6 SubmittersRCV000123322 RCV000409019 RCV000563716 RCV000411433 RCV001310569 RCV005042241
NM_020975.6(RET):c.597C>T (p.Asn199=)	SNV Germline	Chr10:43102601	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Pheochromocytoma Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA009297	rs_55810667	6 SubmittersRCV000123323 RCV000292445 RCV000349967 RCV000383508 RCV000291430 RCV000565107 RCV000611182 RCV003415926
NM_020975.6(RET):c.667G>A (p.Val223Met)	SNV Germline	Chr10:43104993	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B See cases Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA009308	rs_587780815	7 SubmittersRCV000123324 RCV000409553 RCV001025526 RCV000411929 RCV002251993 RCV005042242
NM_020975.6(RET):c.693C>T (p.Arg231=)	SNV Germline	Chr10:43105019	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung Disease, Dominant Renal hypodysplasia/aplasia 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA009323	rs_576806329	7 SubmittersRCV000123325 RCV000355396 RCV000409807 RCV000412200 RCV000391410 RCV000263104 RCV000302880 RCV000568383 RCV001081768
NM_020975.6(RET):c.757G>A (p.Val253Met)	SNV Germline	Chr10:43105083	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009343	rs_587780816	4 SubmittersRCV000123326 RCV003467096 RCV001026582
NC_000022.11:g.38016208G>A	SNV Germline	Chr22:38016208	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	No Assertion Criteria Provided	CA270920	rs_606231342	1 SubmittersRCV000144844
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)	SNV Germline	Chr10:43114681	Conflicting classifications of pathogenicity	Aganglionic megacolon Hereditary cancer-predisposing syndrome Condition: not provided Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A not specified Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 RET-related disorder Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008578	rs_141185224	14 SubmittersRCV000148781 RCV000562835 RCV000766923 RCV001102745 RCV001102746 RCV001102744 RCV000409290 RCV000455880 RCV005042290 RCV000411751 RCV000462012 RCV004532668 RCV001102743
NM_020975.6(RET):c.225G>A (p.Thr75=)	SNV Germline	Chr10:43100610	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 not specified Hirschsprung disease, susceptibility to, 1 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA008616	rs_151267865	8 SubmittersRCV000163611 RCV000200674 RCV000412352 RCV000409943 RCV001105643 RCV001105644 RCV000606849 RCV001105642 RCV001103697
NM_020975.6(RET):c.957C>A (p.Leu319=)	SNV Germline	Chr10:43106465	Conflicting classifications of pathogenicity	Pheochromocytoma Hereditary cancer-predisposing syndrome Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Condition: not provided not specified Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia	Criteria Provided Conflicting Classifications	CA009391	rs_149926238	10 SubmittersRCV000275161 RCV000163298 RCV000327857 RCV000384830 RCV000679757 RCV001818363 RCV001084417 RCV005425752 RCV000288125
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 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA007417	rs_777716061	4 SubmittersRCV000167232 RCV000553159 RCV002485039
NM_020975.6(RET):c.1352C>T (p.Thr451Met)	SNV Germline	Chr10:43111295	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 not specified Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA007541	rs_774092678	6 SubmittersRCV000167414 RCV000654555 RCV003226229 RCV004567348
NM_020975.6(RET):c.2225C>T (p.Thr742Met)	SNV Germline	Chr10:43116672	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 6 conditions Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA008602	rs_773256580	6 SubmittersRCV000167451 RCV000409277 RCV000654567 RCV000764899 RCV000409934 RCV004567352 RCV004786479
NM_020975.6(RET):c.2523G>T (p.Pro841=)	SNV Germline	Chr10:43119661	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Pheochromocytoma Renal hypodysplasia/aplasia 1	Criteria Provided Conflicting Classifications	CA008853	rs_56195026	11 SubmittersRCV000163299 RCV000679732 RCV001818364 RCV001104780 RCV001105909 RCV005425753 RCV001080805 RCV001104779 RCV001105910
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)	SNV Germline	Chr10:43128177	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Renal hypodysplasia/aplasia 1 Condition: not provided Multiple endocrine neoplasia Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA010930	rs_756465544	10 SubmittersRCV000162457 RCV000168316 RCV000339922 RCV000343184 RCV000411142 RCV000304884 RCV002460938 RCV000401667 RCV000409584
NM_020975.6(RET):c.972G>C (p.Trp324Cys)	SNV Germline	Chr10:43106480	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia	Criteria Provided Conflicting Classifications	CA009409	rs_758298916	8 SubmittersRCV000167906 RCV000410975 RCV001107613 RCV000994377 RCV002381533 RCV000409785 RCV001107612 RCV001107614 RCV001107611
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)	SNV Germline	Chr15:48513590	Conflicting classifications of pathogenicity	not specified Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome Familial thoracic aortic aneurysm and aortic dissection 8 conditions Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA044927	rs_775489067	8 SubmittersRCV002228779 RCV003995647 RCV001186227 RCV001297613 RCV002505229 RCV000201287 RCV001561954
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)	SNV Germline	Chr10:43128238	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A not specified Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA010953	rs_532862288	9 SubmittersRCV000463602 RCV000662469 RCV000456051 RCV001019923 RCV003462290 RCV002478618
NM_020975.6(RET):c.308A>G (p.His103Arg)	SNV Germline	Chr10:43100693	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA042516	rs_375390467	5 SubmittersRCV000196485 RCV000411052 RCV000409523 RCV002321798 RCV005042428
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 Multiple endocrine neoplasia type 2A Condition: not provided not specified Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Ovarian cancer Hirschsprung disease, susceptibility to, 1 RET-related disorder	Criteria Provided Conflicting Classifications	CA043648	rs_79014735	12 SubmittersRCV000197380 RCV000571944 RCV000662413 RCV000679750 RCV000678743 RCV002503785 RCV003153474 RCV003462339 RCV004739588
NM_020975.6(RET):c.431G>A (p.Arg144His)	SNV Germline	Chr10:43102435	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA043667	rs_551142665	6 SubmittersRCV000200522 RCV000565710 RCV000662542 RCV001294032 RCV002500624 RCV004772862
NM_020975.6(RET):c.977A>G (p.Gln326Arg)	SNV Germline	Chr10:43106485	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA338671	rs_863224778	8 SubmittersRCV000199477 RCV000574518 RCV000662571 RCV002284372 RCV002485323 RCV003462340
NM_020975.6(RET):c.1890C>T (p.Cys630=)	SNV Germline	Chr10:43114490	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Pheochromocytoma not specified Hereditary cancer-predisposing syndrome Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 RET-related disorder Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA036313	rs_781145070	10 SubmittersRCV000197302 RCV001102657 RCV001102659 RCV000506065 RCV001013471 RCV001102658 RCV001102660 RCV004739584 RCV002225500 RCV005425798
NM_020975.6(RET):c.2607+4C>T	SNV Germline	Chr10:43119749	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome Condition: not provided RET-related disorder Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA040001	rs_200634990	9 SubmittersRCV000199849 RCV000410597 RCV000409038 RCV001016043 RCV003477672 RCV004530197 RCV005031750
NM_020975.6(RET):c.2776C>G (p.His926Asp)	SNV Germline	Chr10:43121991	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA040885	rs_774215008	6 SubmittersRCV000196286 RCV002433890 RCV002478713 RCV003441780 RCV004791322
NM_020975.6(RET):c.2988G>A (p.Pro996=)	SNV Germline	Chr10:43124931	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome not specified Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Appendicitis Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA041871	rs_145798106	11 SubmittersRCV000199267 RCV000291942 RCV000288556 RCV000395274 RCV000569522 RCV000253581 RCV000345815 RCV000662488 RCV001289998 RCV003326372 RCV005396608
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)	SNV Germline	Chr4:150870530	Conflicting classifications of pathogenicity	not specified Hirschsprung disease, susceptibility to, 1 Condition: not provided Combined immunodeficiency due to LRBA deficiency LRBA-related disorder	Criteria Provided Conflicting Classifications	CA248871	rs_140666848	10 SubmittersRCV000202672 RCV000508598 RCV000659004 RCV001080665 RCV003927868
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 RET-related disorder Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA044503	rs_760813493	7 SubmittersRCV000206221 RCV000571565 RCV004541291 RCV002494530 RCV003148679
NM_020975.6(RET):c.1052T>A (p.Val351Glu)	SNV Germline	Chr10:43106560	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Ovarian cancer Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA030932	rs_749449032	5 SubmittersRCV000205293 RCV002399761 RCV004791326 RCV003153481 RCV003462370
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 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA032301	rs_371731991	5 SubmittersRCV000206643 RCV000561732 RCV002494521 RCV004567456 RCV002285278
NM_020975.6(RET):c.1264-5C>G	SNV Germline	Chr10:43111202	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA349307	rs_9282835	3 SubmittersRCV001493874 RCV004943773 RCV003468947
NM_020975.6(RET):c.1678C>T (p.Pro560Ser)	SNV Germline	Chr10:43112882	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Condition: not provided Hereditary cancer	Criteria Provided Conflicting Classifications	CA035017	rs_748852160	5 SubmittersRCV000204252 RCV002399762 RCV004567465 RCV005230078 RCV003491956
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)	SNV Germline	Chr10:43119615	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided Hereditary cancer-predisposing syndrome not specified Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B RET-related disorder	Criteria Provided Conflicting Classifications	CA039378	rs_34617196	9 SubmittersRCV000205464 RCV000411008 RCV000412172 RCV000679731 RCV001015653 RCV003320137 RCV003462382 RCV005031777 RCV004739598
NM_020975.6(RET):c.2544G>A (p.Met848Ile)	SNV Germline	Chr10:43119682	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA039702	rs_772684105	4 SubmittersRCV000205988 RCV001015870 RCV004567470
NM_020975.6(RET):c.1201A>T (p.Ser401Cys)	SNV Germline	Chr10:43109168	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Congenital anomaly of kidney and urinary tract Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA032120	rs_140638866	6 SubmittersRCV000560396 RCV004721300 RCV000416603 RCV001010283 RCV003468970
NM_001122659.3(EDNRB):c.-26G>A	SNV Germline	Chr13:77918599	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 not specified Condition: not provided Waardenburg syndrome type 4A	Criteria Provided Conflicting Classifications	CA7012417	rs_2070591	5 SubmittersRCV000490514 RCV000216068 RCV001705184 RCV000989153
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 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B RET-related disorder	Criteria Provided Conflicting Classifications	CA10576788	rs_876657980	5 SubmittersRCV000221356 RCV000572702 RCV001580474 RCV002503860 RCV004532763
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)	SNV Germline	Chr13:77918525	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7012405	rs_5346	5 SubmittersRCV000297140 RCV000221012 RCV000897477
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	SNV Germline	Chr10:43114598	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 RET-related disorder MEN2 phenotype: Unclassified Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Multiple Submitters No Conflicts	CA036775	rs_146646971	14 SubmittersRCV000219014 RCV000556223 RCV001589145 RCV002265692 RCV002463360 RCV003137821 RCV003462451 RCV004532784 RCV004767168 RCV005044446
NM_020975.6(RET):c.2485A>G (p.Ser829Gly)	SNV Germline	Chr10:43119623	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA039406	rs_113005278	5 SubmittersRCV000220486 RCV000560108 RCV004567591 RCV005044450
NM_020975.6(RET):c.1063+9G>A	SNV Germline	Chr10:43106580	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A not specified Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome RET-related disorder	Criteria Provided Conflicting Classifications	CA031087	rs_765463636	13 SubmittersRCV000232595 RCV000412024 RCV000409561 RCV000454826 RCV001103998 RCV001103999 RCV001103997 RCV001103996 RCV001567894 RCV002256169 RCV004532955
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)	SNV Germline	Chr10:43111405	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Condition: not provided not specified Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA033750	rs_753733901	8 SubmittersRCV000234316 RCV000709111 RCV001107139 RCV001107140 RCV001011698 RCV001107800 RCV001107138 RCV001770206 RCV004596143 RCV005396817
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)	SNV Germline	Chr10:43114515	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Condition: not provided Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA036557	rs_777122776	8 SubmittersRCV000226795 RCV000410332 RCV000409197 RCV000679725 RCV001013684 RCV003469160
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)	SNV Germline	Chr10:43114521	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Condition: not provided Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA036607	rs_377767411	9 SubmittersRCV000229577 RCV002487084 RCV000662388 RCV002508206 RCV001292757 RCV002411060 RCV003463677
NM_020975.6(RET):c.2052G>A (p.Pro684=)	SNV Germline	Chr10:43114652	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA037105	rs_145122337	11 SubmittersRCV000273369 RCV000263785 RCV000300341 RCV000369018 RCV000566200 RCV000616095 RCV000679726 RCV001082755 RCV005425897
NM_020975.6(RET):c.2538C>T (p.Leu846=)	SNV Germline	Chr10:43119676	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia type 2A not specified	Criteria Provided Conflicting Classifications	CA039670	rs_201816539	7 SubmittersRCV000227054 RCV000565745 RCV001105911 RCV001105912 RCV001105913 RCV001105914 RCV005425901 RCV002469084
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 Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma 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 Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA042623	rs_200021472	8 SubmittersRCV000228519 RCV000567853 RCV001589196 RCV001820760 RCV002500812 RCV004567757
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)	SNV Germline	Chr10:43126684	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Condition: not provided Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Hereditary cancer not specified	Criteria Provided Conflicting Classifications	CA042811	rs_200956659	12 SubmittersRCV000225774 RCV000563947 RCV001196701 RCV000679746 RCV003463679 RCV005044481 RCV003492013 RCV005055783
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)	SNV Germline	Chr13:77898290	Conflicting classifications of pathogenicity	not specified Hirschsprung disease, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7012155	rs_139317762	6 SubmittersRCV000251445 RCV000348921 RCV000894771
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met)	SNV Germline	Chr13:77903226	Conflicting classifications of pathogenicity	not specified Hirschsprung disease, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7012280	rs_5350	5 SubmittersRCV000245461 RCV000381908 RCV000962313
NM_002181.4(IHH):c.151C>A (p.Gln51Lys)	SNV Germline	Chr2:219060317	Likely pathogenic	Hirschsprung disease, susceptibility to, 1 Brachydactyly type A1	Criteria Provided Single Submitter	CA350637272	rs_1553540620	2 SubmittersRCV000508633 RCV005245495
NM_001377.3(DYNC2H1):c.12366+8A>G	SNV Germline	Chr11:103399880	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Short rib-polydactyly syndrome Hirschsprung disease, susceptibility to, 1 not specified DYNC2H1-related disorder	Criteria Provided Conflicting Classifications	CA6255516	rs_200404815	5 SubmittersRCV000308814 RCV000270085 RCV000508628 RCV001820801 RCV003909898
NM_020975.6(RET):c.1119G>A (p.Ala373=)	SNV Germline	Chr10:43109086	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA031672	rs_113931414	9 SubmittersRCV000282321 RCV000566877 RCV000679710 RCV001084015 RCV001104290 RCV001104291 RCV001104292 RCV001104293 RCV003316464
NM_020975.6(RET):c.-132G>T	SNV Germline	Chr10:43077127	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10628534	rs_886046985	2 SubmittersRCV000298833 RCV000336868 RCV000369892 RCV000393831 RCV002256191
NM_020975.6(RET):c.2847A>G (p.Gly949=)	SNV Germline	Chr10:43123716	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Hirschsprung Disease, Dominant Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10628546	rs_886046989	4 SubmittersRCV000307108 RCV000351301 RCV000366161 RCV000399319 RCV000988349 RCV001453964 RCV002436139
NM_020975.6(RET):c.*84G>A	SNV Germline	Chr10:43128353	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA10628547	rs_558718557	1 SubmittersRCV000263605 RCV000298834 RCV000356032 RCV000408384
NM_020975.6(RET):c.*1130A>G	SNV Germline	Chr10:43129399	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA10628579	rs_572936041	2 SubmittersRCV000290403 RCV000339613 RCV000345577 RCV000384769 RCV003311742
NM_020975.6(RET):c.432C>T (p.Arg144=)	SNV Germline	Chr10:43102436	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Pheochromocytoma Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA043682	rs_756999107	5 SubmittersRCV000265740 RCV000305840 RCV000318616 RCV000358174 RCV000537322 RCV000571664 RCV005256590 RCV005434787
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)	SNV Germline	Chr10:43112194	Conflicting classifications of pathogenicity	Pheochromocytoma Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Microcephaly Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Ovarian cancer Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA034653	rs_543376293	9 SubmittersRCV000260802 RCV000263988 RCV000305137 RCV000359923 RCV000573672 RCV000697839 RCV001252827 RCV002480091 RCV003153554 RCV004791397
NM_020975.6(RET):c.*1644G>C	SNV Germline	Chr10:43129913	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia	Criteria Provided Conflicting Classifications	CA10631689	rs_117119161	1 SubmittersRCV000276517 RCV000331623 RCV000356657 RCV000370937
NM_001122659.3(EDNRB):c.1194+15C>T	SNV Germline	Chr13:77899844	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 not specified	Criteria Provided Conflicting Classifications	CA10634523	rs_886050325	2 SubmittersRCV000371340 RCV000605496
NM_020975.6(RET):c.1162G>A (p.Val388Ile)	SNV Germline	Chr10:43109129	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA031971	rs_776223166	6 SubmittersRCV000312196 RCV000313283 RCV000370252 RCV000393718 RCV000654549 RCV002321978 RCV003480586
NM_020975.6(RET):c.1879+14G>A	SNV Germline	Chr10:43113689	Conflicting classifications of pathogenicity	Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA035963	rs_532810255	3 SubmittersRCV000295350 RCV000345576 RCV000381315 RCV000389662 RCV001850584 RCV000662734
NM_020975.6(RET):c.2070C>T (p.Ser690=)	SNV Germline	Chr10:43114670	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Pheochromocytoma Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA037190	rs_201550433	5 SubmittersRCV000270886 RCV000325905 RCV000333157 RCV000387715 RCV000574739 RCV000542961 RCV000662709
NM_020975.6(RET):c.220G>A (p.Gly74Ser)	SNV Germline	Chr10:43100605	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Ovarian cancer Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA037807	rs_764938319	7 SubmittersRCV000270926 RCV000323687 RCV000329067 RCV000363157 RCV000551141 RCV001014798 RCV003153553 RCV005033870
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)	SNV Germline	Chr10:43111363	Conflicting classifications of pathogenicity	Pheochromocytoma Hirschsprung Disease, Dominant Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome RET-related disorder Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA033490	rs_775842917	8 SubmittersRCV000292520 RCV000352045 RCV000390089 RCV000402202 RCV001239526 RCV001840481 RCV002392835 RCV004529483 RCV003469251
NM_020975.6(RET):c.2580G>A (p.Gln860=)	SNV Germline	Chr10:43119718	Conflicting classifications of pathogenicity	Hirschsprung Disease, Dominant Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA10635722	rs_886046988	5 SubmittersRCV000279714 RCV000316068 RCV000378390 RCV000375295 RCV001428203 RCV002429252 RCV005425925
NM_020975.6(RET):c.*1348G>A	SNV Germline	Chr10:43129617	Conflicting classifications of pathogenicity	Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1	Criteria Provided Conflicting Classifications	CA10635757	rs_149252070	1 SubmittersRCV000280995 RCV000336056 RCV000395362 RCV000399812
NM_001122659.3(EDNRB):c.*296A>G	SNV Germline	Chr13:77897904	Conflicting classifications of pathogenicity	Condition: not provided Hirschsprung disease, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA10639735	rs_12720203	2 SubmittersRCV001575447 RCV000391036
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=)	SNV Germline	Chr13:77903180	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7012262	rs_375637651	2 SubmittersRCV000267346 RCV002056390
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)	SNV Germline	Chr20:59301650	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 4 Waardenburg syndrome type 4B EDN3-related disorder	Criteria Provided Conflicting Classifications	CA9930322	rs_745795470	4 SubmittersRCV000383770 RCV000659492 RCV003912427
NM_020975.6(RET):c.1879+13C>T	SNV Germline	Chr10:43113688	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Pheochromocytoma RET-related disorder Renal hypodysplasia/aplasia 1	Criteria Provided Conflicting Classifications	CA035950	rs_375573788	6 SubmittersRCV000409694 RCV000410376 RCV001107888 RCV002058859 RCV001107249 RCV001107887 RCV004530506 RCV001107248
NM_020975.6(RET):c.2116G>A (p.Val706Met)	SNV Germline	Chr10:43114716	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA037364	rs_137855422	9 SubmittersRCV000409130 RCV000410654 RCV000795272 RCV004567897 RCV000565078 RCV004999368
NM_020975.6(RET):c.2393-14C>T	SNV Germline	Chr10:43119517	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia not specified	Criteria Provided Conflicting Classifications	CA038910	rs_144269978	7 SubmittersRCV000411041 RCV000409467 RCV002058857 RCV001102853 RCV001102854 RCV001108068 RCV001108069 RCV001002253
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)	SNV Germline	Chr10:43119626	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Pheochromocytoma RET-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039416	rs_200127630	6 SubmittersRCV000409178 RCV000410477 RCV000704852 RCV002505998 RCV004529566 RCV002429338
NM_001318241.2(TBATA):c.157C>T (p.Arg53Cys)	SNV Not applicable	Chr10:70781921	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	No Assertion Criteria Provided	CA5540969	rs_759944122	1 SubmittersRCV000416372
NM_020170.4(NCLN):c.496C>T (p.Gln166Ter)	SNV Not applicable	Chr19:3193404	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	No Assertion Criteria Provided	CA16044028	rs_1057519322	1 SubmittersRCV000416337
NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser)	SNV Not applicable	Chr11:3676355	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	No Assertion Criteria Provided	CA16044029	rs_1057519323	1 SubmittersRCV000416348
NM_020975.6(RET):c.650C>A (p.Ala217Asp)	SNV Germline	Chr10:43104976	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma RET-related disorder	Criteria Provided Conflicting Classifications	CA16612872	rs_1060500754	6 SubmittersRCV000470242 RCV001025355 RCV001570499 RCV002502615 RCV004529585
NM_020975.6(RET):c.1018G>T (p.Val340Phe)	SNV Germline	Chr10:43106526	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA030679	rs_367737920	8 SubmittersRCV000470605 RCV000662822 RCV002256246 RCV003327399 RCV005033971
NM_020975.6(RET):c.1375G>A (p.Glu459Lys)	SNV Germline	Chr10:43111318	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA033343	rs_539995816	5 SubmittersRCV000474764 RCV001011224 RCV002481389 RCV003470405
NM_020975.6(RET):c.2932G>A (p.Glu978Lys)	SNV Germline	Chr10:43123801	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA041492	rs_758800351	6 SubmittersRCV000468043 RCV001017564 RCV003463859 RCV002506101 RCV003221984
NM_020975.6(RET):c.235C>T (p.Arg79Trp)	SNV Germline	Chr10:43100620	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Pheochromocytoma Hereditary cancer-predisposing syndrome Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Condition: not provided Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA038673	rs_537523906	7 SubmittersRCV000463969 RCV001104288 RCV001015286 RCV001105645 RCV001105646 RCV001105647 RCV004722767 RCV005033970
NM_020975.6(RET):c.530G>A (p.Arg177Gln)	SNV Germline	Chr10:43102534	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA043905	rs_759229505	7 SubmittersRCV000473800 RCV001294033 RCV002348280 RCV003322771 RCV005044660
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)	SNV Germline	Chr10:43109132	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA16613014	rs_895556824	6 SubmittersRCV000472212 RCV000566718 RCV001107714 RCV001107048 RCV001107049 RCV001107050 RCV005033969
NM_020975.6(RET):c.2135T>C (p.Leu712Pro)	SNV Germline	Chr10:43114735	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA037424	rs_760272063	4 SubmittersRCV000465229 RCV003470404 RCV004943844 RCV004999431
NM_020975.6(RET):c.31C>T (p.Leu11=)	SNV Germline	Chr10:43077289	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA469274883	rs_587780812	5 SubmittersRCV000547016 RCV002491106 RCV005431765 RCV002325102
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 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA376770372	rs_1318325737	5 SubmittersRCV000528844 RCV001015313 RCV002483498 RCV004767387
NM_020975.6(RET):c.1084C>A (p.Leu362Ile)	SNV Germline	Chr10:43109051	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA031444	rs_773935854	6 SubmittersRCV000531414 RCV000563252 RCV001821651 RCV003441942 RCV005034120
NM_020975.6(RET):c.1264-8C>T	SNV Germline	Chr10:43111199	Conflicting classifications of pathogenicity	Pheochromocytoma Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia, type 2 RET-related disorder	Criteria Provided Conflicting Classifications	CA593289956	rs_769595884	3 SubmittersRCV001107716 RCV001107717 RCV001107718 RCV001107715 RCV001079777 RCV004530582
NM_020975.6(RET):c.1312G>A (p.Val438Ile)	SNV Germline	Chr10:43111255	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome RET-related disorder	Criteria Provided Conflicting Classifications	CA033053	rs_774474422	6 SubmittersRCV000540480 RCV000663209 RCV002483496 RCV003302887 RCV004530583
NM_020975.6(RET):c.3059C>T (p.Ala1020Val)	SNV Germline	Chr10:43126594	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA042456	rs_372191563	6 SubmittersRCV000528285 RCV000679742 RCV001018359 RCV002476202 RCV003470794
NM_020975.6(RET):c.718G>C (p.Val240Leu)	SNV Germline	Chr10:43105044	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Condition: not provided Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA044589	rs_375120544	7 SubmittersRCV000533533 RCV001103892 RCV001103893 RCV001103895 RCV000565358 RCV001103894 RCV004822108 RCV005034123
NM_020975.6(RET):c.731C>T (p.Thr244Ile)	SNV Germline	Chr10:43105057	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA044641	rs_145970248	4 SubmittersRCV000557609 RCV001026272 RCV002506371 RCV005416370
NM_020975.6(RET):c.973G>A (p.Ala325Thr)	SNV Germline	Chr10:43106481	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA045679	rs_779719517	8 SubmittersRCV000528670 RCV000566312 RCV000709105 RCV003327423 RCV003459267
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)	SNV Germline	Chr10:43113594	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Renal hypodysplasia/aplasia 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA035694	rs_745418960	4 SubmittersRCV001107244 RCV001107246 RCV000549713 RCV001013214 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 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA038497	rs_142793711	3 SubmittersRCV000551339 RCV002476201 RCV003228955
NM_020975.6(RET):c.566G>A (p.Arg189His)	SNV Germline	Chr10:43102570	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA043969	rs_753707182	4 SubmittersRCV000526271 RCV001105728 RCV001105729 RCV001105730 RCV001105731 RCV002350393
NM_020975.6(RET):c.943A>C (p.Thr315Pro)	SNV Germline	Chr10:43106451	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA045562	rs_774637214	6 SubmittersRCV000535337 RCV000679756 RCV002377189 RCV003459266 RCV005034124
NM_020975.6(RET):c.1189G>A (p.Val397Met)	SNV Germline	Chr10:43109156	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Ovarian cancer Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA032076	rs_183729115	5 SubmittersRCV000534092 RCV003153730 RCV005034122 RCV004024396
NM_020975.6(RET):c.2041C>G (p.Gln681Glu)	SNV Germline	Chr10:43114641	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA037016	rs_567241943	6 SubmittersRCV000558712 RCV001014192 RCV003330795 RCV003470793 RCV004791574
NM_020975.6(RET):c.2939+7G>A	SNV Germline	Chr10:43123815	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 not specified	Criteria Provided Conflicting Classifications	CA206267380	rs_374565577	3 SubmittersRCV000526600 RCV001108157 RCV001102949 RCV001108156 RCV001102948 RCV004596264
NM_020975.6(RET):c.-37G>C	SNV Germline	Chr10:43077222	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 2A Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA043526	rs_751005619	4 SubmittersRCV000526991 RCV002225663 RCV005357619 RCV005044835
NM_020975.6(RET):c.487C>A (p.Arg163=)	SNV Germline	Chr10:43102491	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia Condition: not provided Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Hereditary cancer-predisposing syndrome Pheochromocytoma	Criteria Provided Conflicting Classifications	CA043827	rs_371153966	6 SubmittersRCV001084075 RCV001103795 RCV000679752 RCV001103796 RCV001105727 RCV001023187 RCV001103797
NM_020975.6(RET):c.603C>T (p.Ser201=)	SNV Germline	Chr10:43102607	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA044075	rs_780120451	5 SubmittersRCV000555991 RCV001106847 RCV001106848 RCV001106849 RCV001107515 RCV002358621
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 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA036871	rs_776986585	5 SubmittersRCV000566339 RCV001359410 RCV002491139 RCV003222050 RCV005427073
NM_020975.6(RET):c.2403C>T (p.Leu801=)	SNV Germline	Chr10:43119541	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA469479710	rs_1554819519	5 SubmittersRCV000572478 RCV000869947 RCV001102855 RCV001102856 RCV001102858 RCV001102857 RCV005422218
NM_020975.6(RET):c.31C>A (p.Leu11Met)	SNV Germline	Chr10:43077289	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 not specified RET-related disorder Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Conflicting Classifications	CA206710333	rs_587780812	7 SubmittersRCV000575741 RCV000689589 RCV001821691 RCV004530620 RCV005034142
NM_020975.6(RET):c.452A>G (p.Asn151Ser)	SNV Germline	Chr10:43102456	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma	Criteria Provided Conflicting Classifications	CA043742	rs_150261092	6 SubmittersRCV000575489 RCV000709102 RCV000812605 RCV001764690 RCV003459399 RCV002483540
NM_020975.6(RET):c.736C>A (p.His246Asn)	SNV Germline	Chr10:43105062	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA044654	rs_780756440	6 SubmittersRCV000568616 RCV001227818 RCV002506384 RCV003459398 RCV004767409
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 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Pheochromocytoma Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA031579	rs_754116867	8 SubmittersRCV000567474 RCV000802145 RCV002476249 RCV003225093 RCV004569289
NM_020975.6(RET):c.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 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA038434	rs_748799148	6 SubmittersRCV000576114 RCV000654575 RCV002476250 RCV004592777 RCV005427074
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)	SNV Germline	Chr13:77903179	Conflicting classifications of pathogenicity	Condition: not provided Hirschsprung disease, susceptibility to, 2 not specified	Criteria Provided Conflicting Classifications	CA7012261	rs_77132068	5 SubmittersRCV000839975 RCV001111746 RCV000614742
NM_020975.6(RET):c.2393-5C>T	SNV Germline	Chr10:43119526	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung disease, susceptibility to, 1 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.2758A>G (p.Ile920Val)	SNV Germline	Chr10:43121973	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA040857	rs_527787676	5 SubmittersRCV000654583 RCV002440390 RCV005046844 RCV004792346
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)	SNV Germline	Chr10:43126587	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA042397	rs_766330880	8 SubmittersRCV000654577 RCV000709125 RCV001106020 RCV001106021 RCV001106022 RCV001106023 RCV001018329 RCV003318621 RCV003493698
NM_020975.6(RET):c.1138G>A (p.Asp380Asn)	SNV Germline	Chr10:43109105	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376547437	rs_1394361948	6 SubmittersRCV000654554 RCV002485478 RCV005000470 RCV005268702
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)	SNV Germline	Chr10:43120130	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Multiple endocrine neoplasia type 2B	Criteria Provided Conflicting Classifications	CA040313	rs_373594744	12 SubmittersRCV000654581 RCV000708758 RCV002284418 RCV002477456 RCV003459554 RCV004792345 RCV003313129 RCV005357871
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)	SNV Germline	Chr10:43128123	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	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 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA030658	rs_774829203	6 SubmittersRCV000663096 RCV002343411 RCV000818592 RCV002485508
NM_020975.6(RET):c.1083C>A (p.Asn361Lys)	SNV Germline	Chr10:43109050	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified RET-related disorder Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA031414	rs_770587835	10 SubmittersRCV000663048 RCV000823028 RCV001017228 RCV001816663 RCV004533456 RCV002469239 RCV004568482
NM_020975.6(RET):c.1649-4G>A	SNV Germline	Chr10:43112849	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA034881	rs_369769303	6 SubmittersRCV000663217 RCV000862007 RCV001012564 RCV001104474 RCV001104475 RCV001104476 RCV001104477 RCV004546550
NM_020975.6(RET):c.2392+19T>C	SNV Germline	Chr10:43118499	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 2 RET-related disorder Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma not specified	Criteria Provided Conflicting Classifications	CA038787	rs_778745375	9 SubmittersRCV000662501 RCV002256459 RCV000835063 RCV001455001 RCV004740392 RCV005034230 RCV005240417
NM_020975.6(RET):c.1860C>T (p.Cys620=)	SNV Germline	Chr10:43113656	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A RET-related disorder	Criteria Provided Conflicting Classifications	CA035823	rs_79890926	6 SubmittersRCV000695872 RCV002256461 RCV005427235 RCV005034231 RCV004740393
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 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA206256179	rs_898525501	7 SubmittersRCV000679753 RCV001066218 RCV002499197 RCV002352100 RCV003459652
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)	SNV Germline	Chr4:41745887	Conflicting classifications of pathogenicity	Haddad syndrome Hereditary cancer-predisposing syndrome Condition: not provided Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Neuroblastoma, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA2901400	rs_769663483	4 SubmittersRCV000698405 RCV001018142 RCV003238806 RCV005034312
NM_020975.6(RET):c.1094C>T (p.Ser365Leu)	SNV Germline	Chr10:43109061	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA031493	rs_763670106	5 SubmittersRCV000687406 RCV001017260 RCV003459671 RCV003442020
NM_020975.6(RET):c.1450A>G (p.Met484Val)	SNV Germline	Chr10:43111393	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA376549682	rs_755660496	3 SubmittersRCV000702631 RCV002388321 RCV005034318
NM_020975.6(RET):c.3094G>A (p.Gly1032Ser)	SNV Germline	Chr10:43126629	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA042562	rs_757373375	6 SubmittersRCV000706711 RCV001018566 RCV003238196 RCV003460986
NM_020975.6(RET):c.398G>A (p.Arg133His)	SNV Germline	Chr10:43102402	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome not specified Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA043594	rs_138265837	5 SubmittersRCV000688498 RCV001021592 RCV002469258 RCV002485619 RCV004692095
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)	SNV Germline	Chr10:43114729	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Pheochromocytoma Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA037409	rs_774983492	10 SubmittersRCV000703840 RCV000709118 RCV000708756 RCV001104666 RCV001104667 RCV001104668 RCV001104665 RCV002499266 RCV004588148
NM_020975.6(RET):c.3152C>T (p.Ala1051Val)	SNV Germline	Chr10:43126687	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Pheochromocytoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376558496	rs_1564501944	3 SubmittersRCV000688272 RCV005046927 RCV004659166
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)	SNV Germline	Chr13:77903538	Conflicting classifications of pathogenicity	Hearing impairment Aganglionosis, total intestinal Waardenburg syndrome type 4A Hirschsprung disease, susceptibility to, 2 Hearing loss, autosomal recessive Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7012311	rs_781214034	6 SubmittersRCV000758016 RCV001809794 RCV001112191 RCV001291323 RCV004619404 RCV002464308
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 2A Multiple endocrine neoplasia type 2B Pheochromocytoma Condition: not provided Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA045033	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 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA376544612	rs_756216318	7 SubmittersRCV000819920 RCV001788362 RCV002495168 RCV002363147 RCV003130074
NM_020975.6(RET):c.1008C>G (p.Asn336Lys)	SNV Germline	Chr10:43106516	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 RET-related disorder Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA030592	rs_144981275	5 SubmittersRCV000814407 RCV001009678 RCV003467473 RCV004740458 RCV004792517
NM_020975.6(RET):c.1063A>G (p.Arg355Gly)	SNV Germline	Chr10:43106571	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA031100	rs_145402131	6 SubmittersRCV000824530 RCV001009795 RCV004569789 RCV005047121 RCV004792544
NM_020975.6(RET):c.1343A>G (p.Asn448Ser)	SNV Germline	Chr10:43111286	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA376549104	rs_760832715	3 SubmittersRCV000802993 RCV002386436 RCV005036168
NM_020975.6(RET):c.1421G>A (p.Arg474Gln)	SNV Germline	Chr10:43111364	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA033507	rs_747139265	4 SubmittersRCV000800480 RCV001011510 RCV005036163
NM_020975.6(RET):c.2365A>G (p.Lys789Glu)	SNV Germline	Chr10:43118453	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Condition: not provided Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA376555847	rs_1352006130	6 SubmittersRCV002453836 RCV002495126 RCV000811746 RCV003461202 RCV004773182 RCV004792510
NM_020975.6(RET):c.1879+1G>A	SNV Germline	Chr10:43113676	Pathogenic/Likely pathogenic	Hirschsprung disease, susceptibility to, 1 Condition: not provided Multiple endocrine neoplasia, type 2	Criteria Provided Multiple Submitters No Conflicts	CA376552871	rs_1588873476	4 SubmittersRCV000825021 RCV003141864 RCV003532285
NM_000514.4(GDNF):c.*5G>A	SNV Germline	Chr5:37815646	Conflicting classifications of pathogenicity	not specified Hirschsprung disease, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA3241159	rs_145996577	2 SubmittersRCV000825928 RCV001154267
NM_020975.6(RET):c.712G>T (p.Glu238Ter)	SNV Germline	Chr10:43105038	Pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376544690	rs_1588866040	1 SubmittersRCV000853339
NM_020975.6(RET):c.2089C>T (p.Leu697=)	SNV Germline	Chr10:43114689	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA469479981	rs_1588874416	6 SubmittersRCV000865755 RCV002501251 RCV002416009 RCV005423044 RCV004997418
NM_020975.6(RET):c.2136+9C>T	SNV Germline	Chr10:43114745	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 RET-related disorder Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA593290004	rs_1331402266	4 SubmittersRCV000876638 RCV004530852 RCV005427346 RCV005047139
NM_020975.6(RET):c.890G>A (p.Arg297His)	SNV Germline	Chr10:43106398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA376545706	rs_1480040525	5 SubmittersRCV001018506 RCV001344857 RCV004588490 RCV002489523
NM_020975.6(RET):c.1363G>A (p.Val455Ile)	SNV Germline	Chr10:43111306	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA033292	rs_145966037	4 SubmittersRCV001011134 RCV001070712 RCV002481819
NM_020975.6(RET):c.3304T>C (p.Ser1102Pro)	SNV Germline	Chr10:43128228	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA376559230	rs_1305555370	5 SubmittersRCV001019824 RCV001240737 RCV004569985 RCV004998557
NM_020975.6(RET):c.1440A>T (p.Glu480Asp)	SNV Germline	Chr10:43111383	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA033633	rs_763296134	3 SubmittersRCV001048411 RCV002393238 RCV003462539
NM_020975.6(RET):c.3192G>A (p.Met1064Ile)	SNV Germline	Chr10:43128116	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA054728	rs_144730090	6 SubmittersRCV001056445 RCV003238833 RCV002445297 RCV002482014 RCV005055150
NM_020975.6(RET):c.1264-10G>A	SNV Germline	Chr10:43111197	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA916081582	rs_1837911590	2 SubmittersRCV001040346 RCV002481879
NM_020975.6(RET):c.2629G>C (p.Ala877Pro)	SNV Germline	Chr10:43120102	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376557057	rs_1838178869	1 SubmittersRCV001089963
NM_020975.6(RET):c.*29C>A	SNV Germline	Chr10:43128298	Conflicting classifications of pathogenicity	Pheochromocytoma Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Hirschsprung disease, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA053931	rs_199639914	2 SubmittersRCV001103050 RCV001103049 RCV001104961 RCV001104962 RCV003321801
NM_020975.6(RET):c.*1046G>C	SNV Germline	Chr10:43129315	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Renal hypodysplasia/aplasia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA206268406	rs_143948954	2 SubmittersRCV001105164 RCV001105162 RCV001105163 RCV001105165 RCV002264184
NM_020975.6(RET):c.*1326T>C	SNV Germline	Chr10:43129595	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA206268455	rs_141016377	1 SubmittersRCV001103337 RCV001103338 RCV001103339 RCV001103340
NM_020975.6(RET):c.*1430A>G	SNV Germline	Chr10:43129699	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA206268468	rs_775114955	2 SubmittersRCV001105257 RCV001105256 RCV001105254 RCV001105255 RCV002275285
NM_020975.6(RET):c.*1812C>A	SNV Germline	Chr10:43130081	Conflicting classifications of pathogenicity	Pheochromocytoma Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA206268532	rs_183817000	1 SubmittersRCV001103515 RCV001103516 RCV001105442 RCV001105441
NM_020975.6(RET):c.1880-5C>A	SNV Germline	Chr10:43114475	Conflicting classifications of pathogenicity	Renal hypodysplasia/aplasia 1 Pheochromocytoma Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA1139659376	rs_1838016447	3 SubmittersRCV001102655 RCV001102656 RCV001107890 RCV002411629 RCV001107889 RCV005093487
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=)	SNV Germline	Chr13:77918475	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 Condition: not provided EDNRB-related disorder	Criteria Provided Conflicting Classifications	CA7012396	rs_1050929	3 SubmittersRCV001115169 RCV002558142 RCV003928715
NM_001122659.3(EDNRB):c.483+15C>T	SNV Germline	Chr13:77918076	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA253049848	rs_936183003	2 SubmittersRCV001112192 RCV002069812
NM_000514.4(GDNF):c.292G>T (p.Ala98Ser)	SNV Germline	Chr5:37815995	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 3 not specified	Criteria Provided Conflicting Classifications	CA3241206	rs_141837966	2 SubmittersRCV001155106 RCV004032815
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 Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A RET-related disorder	Criteria Provided Conflicting Classifications	CA206256823	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 Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA045620	rs_756761746	6 SubmittersRCV001206433 RCV002484114 RCV002256697 RCV005428136
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 Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Ovarian cancer	Criteria Provided Conflicting Classifications	CA376549337	rs_1313331250	5 SubmittersRCV001228900 RCV002393566 RCV002497777 RCV003153952
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)	SNV Germline	Chr10:43128256	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA206268174	rs_1003057639	5 SubmittersRCV001238151 RCV002246228 RCV002322139 RCV003462806
NM_020975.6(RET):c.96G>T (p.Ser32=)	SNV Germline	Chr10:43100481	Conflicting classifications of pathogenicity	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	CA469490328	rs_139821724	3 SubmittersRCV001490144 RCV005038240 RCV005271321
NM_001397.3(ECE1):c.1966G>A (p.Gly656Arg)	SNV Germline	Chr1:21225324	Likely pathogenic	Hirschsprung disease, cardiac defects, and autonomic dysfunction	Criteria Provided Single Submitter	CA664971	rs_367812436	1 SubmittersRCV001647332
NM_020975.6(RET):c.1264-5C>A	SNV Germline	Chr10:43111202	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia type 2B Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA927697148	rs_9282835	5 SubmittersRCV001566899 RCV001866004 RCV002414269 RCV002488386
NM_020975.6(RET):c.1846G>A (p.Glu616Lys)	SNV Germline	Chr10:43113642	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA376552800	rs_1393753095	3 SubmittersRCV001877157 RCV004656696 RCV005040448
NM_020975.6(RET):c.3187+12C>T	SNV Germline	Chr10:43126734	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 not specified Multiple endocrine neoplasia type 2A Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA206267867	rs_897706317	3 SubmittersRCV002200386 RCV005238217 RCV005042717
NM_020975.6(RET):c.1880-12C>G	SNV Germline	Chr10:43114468	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Pheochromocytoma Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA036097	rs_374893494	3 SubmittersRCV002128478 RCV005032177
NM_020975.6(RET):c.2802-17C>G	SNV Germline	Chr10:43123654	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA2573145062	rs_750812195	2 SubmittersRCV002147889 RCV005032168
NM_001122659.3(EDNRB):c.596+1G>A	SNV Germline	Chr13:77903494	Pathogenic/Likely pathogenic	Condition: not provided Hirschsprung disease, susceptibility to, 2	Criteria Provided Multiple Submitters No Conflicts	CA388451272	rs_1879111145	3 SubmittersRCV002244438 RCV004785538
NM_020975.6(RET):c.2136+2T>G	SNV Germline	Chr10:43114738	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2	Criteria Provided Conflicting Classifications	CA376553433	rs_2132856009	4 SubmittersRCV002289007 RCV002416555 RCV003645908
NM_020975.6(RET):c.1438G>T (p.Glu480Ter)	SNV Germline	Chr10:43111381	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376549615	rs_537874538	1 SubmittersRCV002289465
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)	SNV Germline	Chr10:43112868	Likely pathogenic	Hereditary cancer-predisposing syndrome Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA376551792	rs_2538470328	2 SubmittersRCV002403881 RCV003492764
NM_020975.6(RET):c.1522+1G>A	SNV Germline	Chr10:43111466	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376550056	rs_2132777851	1 SubmittersRCV002472204
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)	SNV Germline	Chr10:43120090	Likely pathogenic	Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA376556992	rs_1838178513	2 SubmittersRCV003150912 RCV003274351
NM_020975.6(RET):c.1880-12C>A	SNV Germline	Chr10:43114468	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 2 Hirschsprung disease, susceptibility to, 1 Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Pheochromocytoma Multiple endocrine neoplasia type 2A	Criteria Provided Conflicting Classifications	CA1905813442	rs_374893494	2 SubmittersRCV003835821 RCV005040544
NM_020975.6(RET):c.277G>A (p.Gly93Ser)	SNV Germline	Chr10:43100662	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376770471	rs_1477699803	1 SubmittersRCV003990837
NM_020975.6(RET):c.2888T>C (p.Leu963Pro)	SNV Germline	Chr10:43123757	Likely pathogenic	Hirschsprung disease, susceptibility to, 1	Criteria Provided Single Submitter	CA376557893	rs_2538616392	1 SubmittersRCV004555733
NM_020975.6(RET):c.2672C>T (p.Ser891Leu)	SNV Germline	Chr10:43120145	Likely pathogenic	Multiple endocrine neoplasia type 2B Pheochromocytoma Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A	Criteria Provided Single Submitter			1 SubmittersRCV005035982

NM_003924.4(PHOX2B):c.421C>G (p.Arg141Gly)

SNV
Germline

Chr4:41747357

Pathogenic

Hirschsprung disease-ganglioneuroblastoma syndrome

No Assertion Criteria Provided

CA117905

rs_28939716

1 SubmittersRCV000006383

NM_001397.3(ECE1):c.2260C>T (p.Arg754Cys)

SNV
Germline

Chr1:21220008

Pathogenic

Hirschsprung disease, cardiac defects, and autonomic dysfunction

No Assertion Criteria Provided

CA120130

rs_3026906

1 SubmittersRCV000009704

NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)

SNV
Germline

Chr7:41967908

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Hirschsprung disease, susceptibility to, 1
not specified
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256987

rs_121917716

8 SubmittersRCV000014843 RCV000508658 RCV000500441 RCV000542657 RCV000782254

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

SNV
Germline

Chr10:43113648

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007995

rs_76262710

14 SubmittersRCV000014919 RCV000522833 RCV000228834 RCV000762807 RCV004760333 RCV002408462 RCV002470710

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

SNV
Germline

Chr10:43114501

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008348

rs_75996173

24 SubmittersRCV000014925 RCV000182582 RCV000014924 RCV000425364 RCV000129490 RCV000476408 RCV003989285 RCV004739307 RCV005394154

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

SNV
Germline

Chr10:43113654

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008055

rs_77316810

15 SubmittersRCV000014935 RCV000182580 RCV000232285 RCV000568259 RCV000736276 RCV000826204 RCV003324711

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

SNV
Germline

Chr10:43113655

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008076

rs_77503355

10 SubmittersRCV000014936 RCV000021801 RCV000413879 RCV000678747 RCV002408464 RCV005394155

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

SNV
Germline

Chr10:43114500

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008315

rs_75076352

23 SubmittersRCV000014937 RCV000014938 RCV000082051 RCV000163338 RCV000552504 RCV000677899 RCV003460479 RCV004795411 RCV004739308

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

Criteria Provided
Multiple Submitters
No Conflicts

CA009082

rs_74799832

39 SubmittersRCV000014941 RCV000014942 RCV000014943 RCV000082054 RCV000175096 RCV000161926 RCV000417859 RCV000415312 RCV001292662 RCV001542764 RCV002255998 RCV004532351 RCV005394156

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

SNV
Germline

Chr10:43123783

Likely pathogenic

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

Criteria Provided
Single Submitter

CA009130

rs_76534745

2 SubmittersRCV000014947 RCV005042054

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

SNV
Germline

Chr10:43100480

Likely pathogenic

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

Criteria Provided
Single Submitter

CA009398

rs_76764689

3 SubmittersRCV000014948 RCV000678742 RCV002514098

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

SNV
Germline

Chr10:43102542

Pathogenic

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

Criteria Provided
Single Submitter

CA009273

rs_76449634

3 SubmittersRCV000014950 RCV004528111 RCV001206325

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

SNV
Germline

Chr10:43106497

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009415

rs_80236571

6 SubmittersRCV000014951 RCV001379274 RCV004696636 RCV005394157

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

SNV
Germline

Chr10:43113655

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008094

rs_77503355

15 SubmittersRCV000014953 RCV000233944 RCV000411165 RCV000485714 RCV002255999 RCV005394158

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

SNV
Germline

Chr10:43113622

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007824

rs_77939446

20 SubmittersRCV000014958 RCV000168107 RCV000082049 RCV000173889 RCV000562113 RCV000496009 RCV000509116 RCV003460480 RCV004532352

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

SNV
Germline

Chr10:43113656

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008105

rs_79890926

4 SubmittersRCV000014959 RCV000021789 RCV000566125 RCV002272020

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

SNV
Germline

Chr10:43118460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008726

rs_77724903

26 SubmittersRCV000014963 RCV000014962 RCV000034771 RCV000130367 RCV000148769 RCV000235206 RCV000312825 RCV000370653 RCV000436831 RCV000431156 RCV000400976 RCV000754613 RCV001083710 RCV005394159

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

SNV
Germline

Chr10:43124887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009143

rs_17158558

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

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

SNV
Germline

Chr10:43114541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008451

rs_75225191

9 SubmittersRCV000014966 RCV000220871 RCV000519499 RCV001085461 RCV000988344 RCV005434602

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008751

rs_79658334

45 SubmittersRCV000148773 RCV000182584 RCV000210181 RCV000515232 RCV000586783 RCV000499191 RCV001804750 RCV003460494 RCV004528141 RCV005209488 RCV004795938 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
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008766

rs_79658334

16 SubmittersRCV000014973 RCV000021854 RCV000354366 RCV000487450 RCV000596480 RCV000561258 RCV005394161

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

SNV
Germline

Chr10:43126651

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009200

rs_79853121

9 SubmittersRCV000014975 RCV000148783 RCV000410425 RCV000563865 RCV000704911 RCV000411688 RCV002490367 RCV003398513 RCV005089259

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

SNV
Germline

Chr10:43120144

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008989

rs_75234356

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

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

SNV
Germline

Chr10:43118420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008677

rs_75686697

4 SubmittersRCV000014983 RCV000206045 RCV000562190 RCV001105834 RCV001108067 RCV001105833

NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)

SNV
Germline

Chr13:77901181

Conflicting classifications of pathogenicity

Waardenburg syndrome type 4A
Hirschsprung disease, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA126743

rs_104894387

3 SubmittersRCV000018113 RCV000018112 RCV003236768

NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)

SNV
Germline

Chr13:77918405

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA257561

rs_1801710

10 SubmittersRCV000018117 RCV000216329 RCV000224294

NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)

SNV
Germline

Chr13:77901095

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
not specified
Waardenburg syndrome type 2A
Waardenburg syndrome type 4A
Condition: not provided
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
ABCD syndrome
Hirschsprung disease, susceptibility to, 2
Waardenburg syndrome type 4A

Criteria Provided
Conflicting Classifications

CA257563

rs_5352

13 SubmittersRCV000018118 RCV000222856 RCV000626404 RCV000659497 RCV000954472 RCV001258252 RCV005394165

NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)

SNV
Germline

Chr20:59300861

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 4
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA126748

rs_11570255

9 SubmittersRCV000018126 RCV000222596 RCV000950863

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

SNV
Germline

Chr10:43106382

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009374

rs_34682185

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

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

SNV
Germline

Chr10:43106469

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009403

rs_377767388

12 SubmittersRCV000148776 RCV000231209 RCV000567555 RCV000679758 RCV000709104 RCV001818171 RCV003460487 RCV004528128

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

SNV
Germline

Chr10:43112173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007667

rs_75873440

12 SubmittersRCV000411509 RCV000409959 RCV000465806 RCV000573056 RCV001107801 RCV001107802 RCV001102551 RCV001102550 RCV005394170 RCV004791232

NM_020975.6(RET):c.1760-12G>A

SNV
Germline

Chr10:43113544

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007734

rs_377767392

6 SubmittersRCV000315977 RCV000330417 RCV000375196 RCV000261911 RCV000663117 RCV004017260 RCV000679724 RCV002054468

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

SNV
Germline

Chr10:43113663

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008114

rs_377767402

7 SubmittersRCV000988343 RCV001369787 RCV001762053 RCV000575097 RCV005031447

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

SNV
Germline

Chr10:43114491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008190

rs_377767406

8 SubmittersRCV000696792 RCV001818172 RCV000564566 RCV000519407 RCV004786279 RCV002477000 RCV003460488

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

SNV
Germline

Chr10:43114494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008256

rs_377767407

15 SubmittersRCV000411403 RCV000409907 RCV000526155 RCV000708754 RCV001811195 RCV005031448

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

SNV
Germline

Chr10:43114546

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008470

rs_148935214

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

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

SNV
Germline

Chr10:43114547

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008487

rs_377767412

6 SubmittersRCV000762808 RCV000821103 RCV001353180 RCV000498649 RCV002408474

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

SNV
Germline

Chr10:43114596

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008502

rs_143795581

14 SubmittersRCV000021838 RCV000148771 RCV000567780 RCV002466411 RCV002496436 RCV004018657 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
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
RET-related disorder
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Familial medullary thyroid carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008525

rs_146646971

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

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

SNV
Germline

Chr10:43114671

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008562

rs_1799939

22 SubmittersRCV000034769 RCV000039052 RCV000162947 RCV000340996 RCV000290703 RCV000385080 RCV000376859 RCV000660243 RCV001083339 RCV003315508

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

SNV
Germline

Chr10:43118459

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008719

rs_377767417

10 SubmittersRCV000409436 RCV000411890 RCV000566113 RCV000457504 RCV000764900 RCV001818174 RCV003466868 RCV005042080

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

SNV
Germline

Chr10:43119590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008797

rs_377767420

8 SubmittersRCV000148782 RCV000571277 RCV000410539 RCV000411157 RCV000799360 RCV002490401 RCV003460490

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

SNV
Germline

Chr10:43119635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008813

rs_377767422

8 SubmittersRCV000529442 RCV000567481 RCV000662806 RCV000478761 RCV004566753 RCV005031449

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

SNV
Germline

Chr10:43119660

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008837

rs_149891333

11 SubmittersRCV000148778 RCV000575365 RCV000662511 RCV000691895 RCV000782197 RCV001818175 RCV001535741 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

11 SubmittersRCV000205855 RCV000575953 RCV000662363 RCV001292765 RCV001574570 RCV003466869

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

SNV
Germline

Chr10:43119694

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008919

rs_377767426

19 SubmittersRCV000204335 RCV000662415 RCV000566408 RCV000755693 RCV001354419 RCV001818176 RCV003466870 RCV004532395 RCV005031450

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

SNV
Germline

Chr10:43100551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007702

rs_145633958

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

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

SNV
Germline

Chr10:43114478

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA008131

rs_193922699

1 SubmittersRCV000030404

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

SNV
Germline

Chr10:43106521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007399

rs_377767433

8 SubmittersRCV000709106 RCV000570795 RCV001046577 RCV004566792 RCV004700294 RCV005042101 RCV001262456

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

SNV
Germline

Chr10:43113648

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007974

rs_76262710

9 SubmittersRCV000032040 RCV000182594 RCV000569893 RCV004532475 RCV003233028 RCV004820824

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

SNV
Germline

Chr10:43118458

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008709

rs_75030001

25 SubmittersRCV000163610 RCV000539138 RCV000339507 RCV003466882 RCV003483444 RCV000709758 RCV000984325

NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)

SNV
Germline

Chr16:2062557

Conflicting classifications of pathogenicity

Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
not specified
Tuberous sclerosis 2
TSC2-related disorder
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2

Criteria Provided
Conflicting Classifications

CA014394

rs_45484298

27 SubmittersRCV000034643 RCV000054863 RCV000163424 RCV000201296 RCV000122204 RCV000227708 RCV004528161 RCV005394204

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

SNV
Germline

Chr10:43120084

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008940

rs_145170911

12 SubmittersRCV000034773 RCV000123312 RCV000410572 RCV000409480 RCV000562304 RCV000763649 RCV002477060 RCV003387739

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

SNV
Germline

Chr10:43124925

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009156

rs_199718928

10 SubmittersRCV000034775 RCV000409131 RCV000568654 RCV000411986 RCV000458385 RCV001104858 RCV001104857 RCV002477061 RCV001104859 RCV001104860

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

SNV
Germline

Chr10:43105111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009350

rs_139790943

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

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

SNV
Germline

Chr10:43112906

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007718

rs_140464432

8 SubmittersRCV000119225 RCV000355156 RCV000564831 RCV000662493 RCV002477302

NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)

SNV
Germline

Chr4:41746135

Conflicting classifications of pathogenicity

not specified
Haddad syndrome
Condition: not provided
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Neuroblastoma, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Neuroblastoma, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA161478

rs_587778606

6 SubmittersRCV000121807 RCV001210723 RCV000757604 RCV005031628 RCV002354308 RCV004567052

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

Criteria Provided
Conflicting Classifications

CA008622

rs_181856591

12 SubmittersRCV000121979 RCV000202914 RCV000411486 RCV000410377 RCV000462996 RCV000573705 RCV002492438 RCV003151746 RCV003460858 RCV004771463

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

SNV
Germline

Chr10:43118436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008694

rs_587778656

12 SubmittersRCV000121980 RCV000412123 RCV000410090 RCV000540063 RCV000561957 RCV000724767 RCV004530033 RCV003460859 RCV005031629

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

SNV
Germline

Chr10:43126720

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009211

rs_587778659

9 SubmittersRCV000121983 RCV000409698 RCV000412388 RCV000532140 RCV001577914 RCV002321601 RCV003460860 RCV005049424

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

SNV
Germline

Chr10:43100689

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009176

rs_201244749

5 SubmittersRCV000121987 RCV000554385 RCV000567241 RCV004528836 RCV002483229

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

SNV
Germline

Chr10:43102492

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009263

rs_149403911

5 SubmittersRCV000121989 RCV000795345 RCV002483230 RCV002336267

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

SNV
Germline

Chr10:43111381

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007585

rs_537874538

8 SubmittersRCV000121996 RCV000409013 RCV000410596 RCV000570658 RCV000461515 RCV000758696 RCV001650985

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

SNV
Germline

Chr10:43112149

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007640

rs_545625150

6 SubmittersRCV000121998 RCV000166496 RCV000476004 RCV004719703 RCV002492439 RCV004528837

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

SNV
Germline

Chr10:43109125

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007461

rs_373540097

10 SubmittersRCV000123291 RCV000162962 RCV001104296 RCV001107047 RCV000610981 RCV001082022 RCV001104294 RCV000988342 RCV001104295

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

Criteria Provided
Conflicting Classifications

CA007539

rs_549907428

10 SubmittersRCV000123295 RCV000572664 RCV000761174 RCV002483237 RCV004530053 RCV002466439 RCV003460874

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

SNV
Germline

Chr10:43112218

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007695

rs_374461212

11 SubmittersRCV000123300 RCV001012544 RCV000662401 RCV001762280 RCV002483238 RCV004542930 RCV004567066

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

SNV
Germline

Chr10:43112903

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007711

rs_147219360

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

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

SNV
Germline

Chr10:43114520

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008434

rs_149768519

7 SubmittersRCV000123303 RCV000562785 RCV001104571 RCV001102661 RCV001102662 RCV001104570 RCV004530055 RCV005394456 RCV005425732

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

SNV
Germline

Chr10:43116613

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Pheochromocytoma
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.2199C>T (p.Gly733=)

SNV
Germline

Chr10:43116646

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

Criteria Provided
Conflicting Classifications

CA008595

rs_587780809

5 SubmittersRCV000123308 RCV001014747 RCV005042239

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

SNV
Germline

Chr10:43126647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009187

rs_201740483

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

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

SNV
Germline

Chr10:43128167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010921

rs_144192900

6 SubmittersRCV000123320 RCV000412402 RCV001103047 RCV001103048 RCV001108244 RCV001108245 RCV000570968 RCV000410847 RCV005237562

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

SNV
Germline

Chr10:43128250

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010962

rs_587780813

6 SubmittersRCV000123321 RCV000573076 RCV000679747 RCV003460875

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

SNV
Germline

Chr10:43100720

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009221

rs_587780814

6 SubmittersRCV000123322 RCV000409019 RCV000563716 RCV000411433 RCV001310569 RCV005042241

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

SNV
Germline

Chr10:43102601

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009297

rs_55810667

6 SubmittersRCV000123323 RCV000292445 RCV000349967 RCV000383508 RCV000291430 RCV000565107 RCV000611182 RCV003415926

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

SNV
Germline

Chr10:43104993

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009308

rs_587780815

7 SubmittersRCV000123324 RCV000409553 RCV001025526 RCV000411929 RCV002251993 RCV005042242

NM_020975.6(RET):c.693C>T (p.Arg231=)

SNV
Germline

Chr10:43105019

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009323

rs_576806329

7 SubmittersRCV000123325 RCV000355396 RCV000409807 RCV000412200 RCV000391410 RCV000263104 RCV000302880 RCV000568383 RCV001081768

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

SNV
Germline

Chr10:43105083

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009343

rs_587780816

4 SubmittersRCV000123326 RCV003467096 RCV001026582

NC_000022.11:g.38016208G>A

SNV
Germline

Chr22:38016208

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

No Assertion Criteria Provided

CA270920

rs_606231342

1 SubmittersRCV000144844

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

SNV
Germline

Chr10:43114681

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008578

rs_141185224

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

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

SNV
Germline

Chr10:43100610

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008616

rs_151267865

8 SubmittersRCV000163611 RCV000200674 RCV000412352 RCV000409943 RCV001105643 RCV001105644 RCV000606849 RCV001105642 RCV001103697

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

SNV
Germline

Chr10:43106465

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009391

rs_149926238

10 SubmittersRCV000275161 RCV000163298 RCV000327857 RCV000384830 RCV000679757 RCV001818363 RCV001084417 RCV005425752 RCV000288125

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

Criteria Provided
Conflicting Classifications

CA007417

rs_777716061

4 SubmittersRCV000167232 RCV000553159 RCV002485039

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

SNV
Germline

Chr10:43111295

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007541

rs_774092678

6 SubmittersRCV000167414 RCV000654555 RCV003226229 RCV004567348

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

SNV
Germline

Chr10:43116672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008602

rs_773256580

6 SubmittersRCV000167451 RCV000409277 RCV000654567 RCV000764899 RCV000409934 RCV004567352 RCV004786479

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

SNV
Germline

Chr10:43119661

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008853

rs_56195026

11 SubmittersRCV000163299 RCV000679732 RCV001818364 RCV001104780 RCV001105909 RCV005425753 RCV001080805 RCV001104779 RCV001105910

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

SNV
Germline

Chr10:43128177

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010930

rs_756465544

10 SubmittersRCV000162457 RCV000168316 RCV000339922 RCV000343184 RCV000411142 RCV000304884 RCV002460938 RCV000401667 RCV000409584

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

SNV
Germline

Chr10:43106480

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009409

rs_758298916

8 SubmittersRCV000167906 RCV000410975 RCV001107613 RCV000994377 RCV002381533 RCV000409785 RCV001107612 RCV001107614 RCV001107611

NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)

SNV
Germline

Chr15:48513590

Conflicting classifications of pathogenicity

not specified
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
8 conditions
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044927

rs_775489067

8 SubmittersRCV002228779 RCV003995647 RCV001186227 RCV001297613 RCV002505229 RCV000201287 RCV001561954

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

SNV
Germline

Chr10:43128238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010953

rs_532862288

9 SubmittersRCV000463602 RCV000662469 RCV000456051 RCV001019923 RCV003462290 RCV002478618

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

SNV
Germline

Chr10:43100693

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042516

rs_375390467

5 SubmittersRCV000196485 RCV000411052 RCV000409523 RCV002321798 RCV005042428

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

Criteria Provided
Conflicting Classifications

CA043648

rs_79014735

12 SubmittersRCV000197380 RCV000571944 RCV000662413 RCV000679750 RCV000678743 RCV002503785 RCV003153474 RCV003462339 RCV004739588

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

SNV
Germline

Chr10:43102435

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA043667

rs_551142665

6 SubmittersRCV000200522 RCV000565710 RCV000662542 RCV001294032 RCV002500624 RCV004772862

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

SNV
Germline

Chr10:43106485

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA338671

rs_863224778

8 SubmittersRCV000199477 RCV000574518 RCV000662571 RCV002284372 RCV002485323 RCV003462340

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

SNV
Germline

Chr10:43114490

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036313

rs_781145070

10 SubmittersRCV000197302 RCV001102657 RCV001102659 RCV000506065 RCV001013471 RCV001102658 RCV001102660 RCV004739584 RCV002225500 RCV005425798

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

SNV
Germline

Chr10:43119749

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040001

rs_200634990

9 SubmittersRCV000199849 RCV000410597 RCV000409038 RCV001016043 RCV003477672 RCV004530197 RCV005031750

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

SNV
Germline

Chr10:43121991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040885

rs_774215008

6 SubmittersRCV000196286 RCV002433890 RCV002478713 RCV003441780 RCV004791322

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

SNV
Germline

Chr10:43124931

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041871

rs_145798106

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

NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)

SNV
Germline

Chr4:150870530

Conflicting classifications of pathogenicity

not specified
Hirschsprung disease, susceptibility to, 1
Condition: not provided
Combined immunodeficiency due to LRBA deficiency
LRBA-related disorder

Criteria Provided
Conflicting Classifications

CA248871

rs_140666848

10 SubmittersRCV000202672 RCV000508598 RCV000659004 RCV001080665 RCV003927868

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

Criteria Provided
Conflicting Classifications

CA044503

rs_760813493

7 SubmittersRCV000206221 RCV000571565 RCV004541291 RCV002494530 RCV003148679

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

SNV
Germline

Chr10:43106560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA030932

rs_749449032

5 SubmittersRCV000205293 RCV002399761 RCV004791326 RCV003153481 RCV003462370

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

Criteria Provided
Conflicting Classifications

CA032301

rs_371731991

5 SubmittersRCV000206643 RCV000561732 RCV002494521 RCV004567456 RCV002285278

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

SNV
Germline

Chr10:43111202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA349307

rs_9282835

3 SubmittersRCV001493874 RCV004943773 RCV003468947

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

SNV
Germline

Chr10:43112882

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035017

rs_748852160

5 SubmittersRCV000204252 RCV002399762 RCV004567465 RCV005230078 RCV003491956

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

SNV
Germline

Chr10:43119615

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039378

rs_34617196

9 SubmittersRCV000205464 RCV000411008 RCV000412172 RCV000679731 RCV001015653 RCV003320137 RCV003462382 RCV005031777 RCV004739598

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

SNV
Germline

Chr10:43119682

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039702

rs_772684105

4 SubmittersRCV000205988 RCV001015870 RCV004567470

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

SNV
Germline

Chr10:43109168

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA032120

rs_140638866

6 SubmittersRCV000560396 RCV004721300 RCV000416603 RCV001010283 RCV003468970

NM_001122659.3(EDNRB):c.-26G>A

SNV
Germline

Chr13:77918599

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
not specified
Condition: not provided
Waardenburg syndrome type 4A

Criteria Provided
Conflicting Classifications

CA7012417

rs_2070591

5 SubmittersRCV000490514 RCV000216068 RCV001705184 RCV000989153

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

Criteria Provided
Conflicting Classifications

CA10576788

rs_876657980

5 SubmittersRCV000221356 RCV000572702 RCV001580474 RCV002503860 RCV004532763

NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)

SNV
Germline

Chr13:77918525

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7012405

rs_5346

5 SubmittersRCV000297140 RCV000221012 RCV000897477

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

SNV
Germline

Chr10:43114598

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 2
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
RET-related disorder
MEN2 phenotype: Unclassified
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA036775

rs_146646971

14 SubmittersRCV000219014 RCV000556223 RCV001589145 RCV002265692 RCV002463360 RCV003137821 RCV003462451 RCV004532784 RCV004767168 RCV005044446

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

SNV
Germline

Chr10:43119623

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039406

rs_113005278

5 SubmittersRCV000220486 RCV000560108 RCV004567591 RCV005044450

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

SNV
Germline

Chr10:43106580

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031087

rs_765463636

13 SubmittersRCV000232595 RCV000412024 RCV000409561 RCV000454826 RCV001103998 RCV001103999 RCV001103997 RCV001103996 RCV001567894 RCV002256169 RCV004532955

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

SNV
Germline

Chr10:43111405

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033750

rs_753733901

8 SubmittersRCV000234316 RCV000709111 RCV001107139 RCV001107140 RCV001011698 RCV001107800 RCV001107138 RCV001770206 RCV004596143 RCV005396817

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

SNV
Germline

Chr10:43114515

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036557

rs_777122776

8 SubmittersRCV000226795 RCV000410332 RCV000409197 RCV000679725 RCV001013684 RCV003469160

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

SNV
Germline

Chr10:43114521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036607

rs_377767411

9 SubmittersRCV000229577 RCV002487084 RCV000662388 RCV002508206 RCV001292757 RCV002411060 RCV003463677

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

SNV
Germline

Chr10:43114652

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037105

rs_145122337

11 SubmittersRCV000273369 RCV000263785 RCV000300341 RCV000369018 RCV000566200 RCV000616095 RCV000679726 RCV001082755 RCV005425897

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

SNV
Germline

Chr10:43119676

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039670

rs_201816539

7 SubmittersRCV000227054 RCV000565745 RCV001105911 RCV001105912 RCV001105913 RCV001105914 RCV005425901 RCV002469084

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

Criteria Provided
Conflicting Classifications

CA042623

rs_200021472

8 SubmittersRCV000228519 RCV000567853 RCV001589196 RCV001820760 RCV002500812 RCV004567757

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

SNV
Germline

Chr10:43126684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042811

rs_200956659

12 SubmittersRCV000225774 RCV000563947 RCV001196701 RCV000679746 RCV003463679 RCV005044481 RCV003492013 RCV005055783

NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)

SNV
Germline

Chr13:77898290

Conflicting classifications of pathogenicity

not specified
Hirschsprung disease, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7012155

rs_139317762

6 SubmittersRCV000251445 RCV000348921 RCV000894771

NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met)

SNV
Germline

Chr13:77903226

Conflicting classifications of pathogenicity

not specified
Hirschsprung disease, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7012280

rs_5350

5 SubmittersRCV000245461 RCV000381908 RCV000962313

NM_002181.4(IHH):c.151C>A (p.Gln51Lys)

SNV
Germline

Chr2:219060317

Likely pathogenic

Hirschsprung disease, susceptibility to, 1
Brachydactyly type A1

Criteria Provided
Single Submitter

CA350637272

rs_1553540620

2 SubmittersRCV000508633 RCV005245495

NM_001377.3(DYNC2H1):c.12366+8A>G

SNV
Germline

Chr11:103399880

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Short rib-polydactyly syndrome
Hirschsprung disease, susceptibility to, 1
not specified
DYNC2H1-related disorder

Criteria Provided
Conflicting Classifications

CA6255516

rs_200404815

5 SubmittersRCV000308814 RCV000270085 RCV000508628 RCV001820801 RCV003909898

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

SNV
Germline

Chr10:43109086

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031672

rs_113931414

9 SubmittersRCV000282321 RCV000566877 RCV000679710 RCV001084015 RCV001104290 RCV001104291 RCV001104292 RCV001104293 RCV003316464

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

SNV
Germline

Chr10:43077127

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10628534

rs_886046985

2 SubmittersRCV000298833 RCV000336868 RCV000369892 RCV000393831 RCV002256191

NM_020975.6(RET):c.2847A>G (p.Gly949=)

SNV
Germline

Chr10:43123716

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia
Hirschsprung Disease, Dominant
Pheochromocytoma
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10628546

rs_886046989

4 SubmittersRCV000307108 RCV000351301 RCV000366161 RCV000399319 RCV000988349 RCV001453964 RCV002436139

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

SNV
Germline

Chr10:43128353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10628547

rs_558718557

1 SubmittersRCV000263605 RCV000298834 RCV000356032 RCV000408384

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

SNV
Germline

Chr10:43129399

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10628579

rs_572936041

2 SubmittersRCV000290403 RCV000339613 RCV000345577 RCV000384769 RCV003311742

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

SNV
Germline

Chr10:43102436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA043682

rs_756999107

5 SubmittersRCV000265740 RCV000305840 RCV000318616 RCV000358174 RCV000537322 RCV000571664 RCV005256590 RCV005434787

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

SNV
Germline

Chr10:43112194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA034653

rs_543376293

9 SubmittersRCV000260802 RCV000263988 RCV000305137 RCV000359923 RCV000573672 RCV000697839 RCV001252827 RCV002480091 RCV003153554 RCV004791397

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

SNV
Germline

Chr10:43129913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10631689

rs_117119161

1 SubmittersRCV000276517 RCV000331623 RCV000356657 RCV000370937

NM_001122659.3(EDNRB):c.1194+15C>T

SNV
Germline

Chr13:77899844

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA10634523

rs_886050325

2 SubmittersRCV000371340 RCV000605496

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

SNV
Germline

Chr10:43109129

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031971

rs_776223166

6 SubmittersRCV000312196 RCV000313283 RCV000370252 RCV000393718 RCV000654549 RCV002321978 RCV003480586

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

SNV
Germline

Chr10:43113689

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035963

rs_532810255

3 SubmittersRCV000295350 RCV000345576 RCV000381315 RCV000389662 RCV001850584 RCV000662734

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

SNV
Germline

Chr10:43114670

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037190

rs_201550433

5 SubmittersRCV000270886 RCV000325905 RCV000333157 RCV000387715 RCV000574739 RCV000542961 RCV000662709

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

SNV
Germline

Chr10:43100605

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037807

rs_764938319

7 SubmittersRCV000270926 RCV000323687 RCV000329067 RCV000363157 RCV000551141 RCV001014798 RCV003153553 RCV005033870

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

SNV
Germline

Chr10:43111363

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033490

rs_775842917

8 SubmittersRCV000292520 RCV000352045 RCV000390089 RCV000402202 RCV001239526 RCV001840481 RCV002392835 RCV004529483 RCV003469251

NM_020975.6(RET):c.2580G>A (p.Gln860=)

SNV
Germline

Chr10:43119718

Conflicting classifications of pathogenicity

Hirschsprung Disease, Dominant
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Pheochromocytoma
Multiple endocrine neoplasia, type 2
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA10635722

rs_886046988

5 SubmittersRCV000279714 RCV000316068 RCV000378390 RCV000375295 RCV001428203 RCV002429252 RCV005425925

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

SNV
Germline

Chr10:43129617

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10635757

rs_149252070

1 SubmittersRCV000280995 RCV000336056 RCV000395362 RCV000399812

NM_001122659.3(EDNRB):c.*296A>G

SNV
Germline

Chr13:77897904

Conflicting classifications of pathogenicity

Condition: not provided
Hirschsprung disease, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10639735

rs_12720203

2 SubmittersRCV001575447 RCV000391036

NM_001122659.3(EDNRB):c.777C>T (p.Pro259=)

SNV
Germline

Chr13:77903180

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7012262

rs_375637651

2 SubmittersRCV000267346 RCV002056390

NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)

SNV
Germline

Chr20:59301650

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 4
Waardenburg syndrome type 4B
EDN3-related disorder

Criteria Provided
Conflicting Classifications

CA9930322

rs_745795470

4 SubmittersRCV000383770 RCV000659492 RCV003912427

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

SNV
Germline

Chr10:43113688

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035950

rs_375573788

6 SubmittersRCV000409694 RCV000410376 RCV001107888 RCV002058859 RCV001107249 RCV001107887 RCV004530506 RCV001107248

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

SNV
Germline

Chr10:43114716

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037364

rs_137855422

9 SubmittersRCV000409130 RCV000410654 RCV000795272 RCV004567897 RCV000565078 RCV004999368

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

SNV
Germline

Chr10:43119517

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA038910

rs_144269978

7 SubmittersRCV000411041 RCV000409467 RCV002058857 RCV001102853 RCV001102854 RCV001108068 RCV001108069 RCV001002253

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

SNV
Germline

Chr10:43119626

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039416

rs_200127630

6 SubmittersRCV000409178 RCV000410477 RCV000704852 RCV002505998 RCV004529566 RCV002429338

NM_001318241.2(TBATA):c.157C>T (p.Arg53Cys)

SNV
Not applicable

Chr10:70781921

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

No Assertion Criteria Provided

CA5540969

rs_759944122

1 SubmittersRCV000416372

NM_020170.4(NCLN):c.496C>T (p.Gln166Ter)

SNV
Not applicable

Chr19:3193404

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

No Assertion Criteria Provided

CA16044028

rs_1057519322

1 SubmittersRCV000416337

NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser)

SNV
Not applicable

Chr11:3676355

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

No Assertion Criteria Provided

CA16044029

rs_1057519323

1 SubmittersRCV000416348

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

SNV
Germline

Chr10:43104976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16612872

rs_1060500754

6 SubmittersRCV000470242 RCV001025355 RCV001570499 RCV002502615 RCV004529585

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

SNV
Germline

Chr10:43106526

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA030679

rs_367737920

8 SubmittersRCV000470605 RCV000662822 RCV002256246 RCV003327399 RCV005033971

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

SNV
Germline

Chr10:43111318

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033343

rs_539995816

5 SubmittersRCV000474764 RCV001011224 RCV002481389 RCV003470405

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

SNV
Germline

Chr10:43123801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041492

rs_758800351

6 SubmittersRCV000468043 RCV001017564 RCV003463859 RCV002506101 RCV003221984

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

SNV
Germline

Chr10:43100620

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA038673

rs_537523906

7 SubmittersRCV000463969 RCV001104288 RCV001015286 RCV001105645 RCV001105646 RCV001105647 RCV004722767 RCV005033970

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

SNV
Germline

Chr10:43102534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA043905

rs_759229505

7 SubmittersRCV000473800 RCV001294033 RCV002348280 RCV003322771 RCV005044660

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

SNV
Germline

Chr10:43109132

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613014

rs_895556824

6 SubmittersRCV000472212 RCV000566718 RCV001107714 RCV001107048 RCV001107049 RCV001107050 RCV005033969

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

SNV
Germline

Chr10:43114735

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037424

rs_760272063

4 SubmittersRCV000465229 RCV003470404 RCV004943844 RCV004999431

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

SNV
Germline

Chr10:43077289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA469274883

rs_587780812

5 SubmittersRCV000547016 RCV002491106 RCV005431765 RCV002325102

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

Criteria Provided
Conflicting Classifications

CA376770372

rs_1318325737

5 SubmittersRCV000528844 RCV001015313 RCV002483498 RCV004767387

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

SNV
Germline

Chr10:43109051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031444

rs_773935854

6 SubmittersRCV000531414 RCV000563252 RCV001821651 RCV003441942 RCV005034120

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

SNV
Germline

Chr10:43111199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA593289956

rs_769595884

3 SubmittersRCV001107716 RCV001107717 RCV001107718 RCV001107715 RCV001079777 RCV004530582

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

SNV
Germline

Chr10:43111255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033053

rs_774474422

6 SubmittersRCV000540480 RCV000663209 RCV002483496 RCV003302887 RCV004530583

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

SNV
Germline

Chr10:43126594

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042456

rs_372191563

6 SubmittersRCV000528285 RCV000679742 RCV001018359 RCV002476202 RCV003470794

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

SNV
Germline

Chr10:43105044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA044589

rs_375120544

7 SubmittersRCV000533533 RCV001103892 RCV001103893 RCV001103895 RCV000565358 RCV001103894 RCV004822108 RCV005034123

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

SNV
Germline

Chr10:43105057

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA044641

rs_145970248

4 SubmittersRCV000557609 RCV001026272 RCV002506371 RCV005416370

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

SNV
Germline

Chr10:43106481

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA045679

rs_779719517

8 SubmittersRCV000528670 RCV000566312 RCV000709105 RCV003327423 RCV003459267

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

SNV
Germline

Chr10:43113594

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035694

rs_745418960

4 SubmittersRCV001107244 RCV001107246 RCV000549713 RCV001013214 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
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038497

rs_142793711

3 SubmittersRCV000551339 RCV002476201 RCV003228955

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

SNV
Germline

Chr10:43102570

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA043969

rs_753707182

4 SubmittersRCV000526271 RCV001105728 RCV001105729 RCV001105730 RCV001105731 RCV002350393

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

SNV
Germline

Chr10:43106451

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA045562

rs_774637214

6 SubmittersRCV000535337 RCV000679756 RCV002377189 RCV003459266 RCV005034124

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

SNV
Germline

Chr10:43109156

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA032076

rs_183729115

5 SubmittersRCV000534092 RCV003153730 RCV005034122 RCV004024396

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

SNV
Germline

Chr10:43114641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037016

rs_567241943

6 SubmittersRCV000558712 RCV001014192 RCV003330795 RCV003470793 RCV004791574

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

SNV
Germline

Chr10:43123815

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206267380

rs_374565577

3 SubmittersRCV000526600 RCV001108157 RCV001102949 RCV001108156 RCV001102948 RCV004596264

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

SNV
Germline

Chr10:43077222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA043526

rs_751005619

4 SubmittersRCV000526991 RCV002225663 RCV005357619 RCV005044835

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

SNV
Germline

Chr10:43102491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA043827

rs_371153966

6 SubmittersRCV001084075 RCV001103795 RCV000679752 RCV001103796 RCV001105727 RCV001023187 RCV001103797

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

SNV
Germline

Chr10:43102607

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA044075

rs_780120451

5 SubmittersRCV000555991 RCV001106847 RCV001106848 RCV001106849 RCV001107515 RCV002358621

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

Criteria Provided
Conflicting Classifications

CA036871

rs_776986585

5 SubmittersRCV000566339 RCV001359410 RCV002491139 RCV003222050 RCV005427073

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

SNV
Germline

Chr10:43119541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA469479710

rs_1554819519

5 SubmittersRCV000572478 RCV000869947 RCV001102855 RCV001102856 RCV001102858 RCV001102857 RCV005422218

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

SNV
Germline

Chr10:43077289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206710333

rs_587780812

7 SubmittersRCV000575741 RCV000689589 RCV001821691 RCV004530620 RCV005034142

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

SNV
Germline

Chr10:43102456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA043742

rs_150261092

6 SubmittersRCV000575489 RCV000709102 RCV000812605 RCV001764690 RCV003459399 RCV002483540

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

SNV
Germline

Chr10:43105062

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA044654

rs_780756440

6 SubmittersRCV000568616 RCV001227818 RCV002506384 RCV003459398 RCV004767409

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

Criteria Provided
Conflicting Classifications

CA031579

rs_754116867

8 SubmittersRCV000567474 RCV000802145 RCV002476249 RCV003225093 RCV004569289

NM_020975.6(RET):c.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
Pheochromocytoma
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia type 2A

Criteria Provided
Conflicting Classifications

CA038434

rs_748799148

6 SubmittersRCV000576114 RCV000654575 RCV002476250 RCV004592777 RCV005427074

NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)

SNV
Germline

Chr13:77903179

Conflicting classifications of pathogenicity

Condition: not provided
Hirschsprung disease, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA7012261

rs_77132068

5 SubmittersRCV000839975 RCV001111746 RCV000614742

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

SNV
Germline

Chr10:43119526

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Pheochromocytoma
Hirschsprung disease, susceptibility to, 1
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.2758A>G (p.Ile920Val)

SNV
Germline

Chr10:43121973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040857

rs_527787676

5 SubmittersRCV000654583 RCV002440390 RCV005046844 RCV004792346

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

SNV
Germline

Chr10:43126587

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042397

rs_766330880

8 SubmittersRCV000654577 RCV000709125 RCV001106020 RCV001106021 RCV001106022 RCV001106023 RCV001018329 RCV003318621 RCV003493698

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

SNV
Germline

Chr10:43109105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376547437

rs_1394361948

6 SubmittersRCV000654554 RCV002485478 RCV005000470 RCV005268702

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

SNV
Germline

Chr10:43120130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040313

rs_373594744

12 SubmittersRCV000654581 RCV000708758 RCV002284418 RCV002477456 RCV003459554 RCV004792345 RCV003313129 RCV005357871

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

SNV
Germline

Chr10:43128123

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA030658

rs_774829203

6 SubmittersRCV000663096 RCV002343411 RCV000818592 RCV002485508

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

SNV
Germline

Chr10:43109050

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031414

rs_770587835

10 SubmittersRCV000663048 RCV000823028 RCV001017228 RCV001816663 RCV004533456 RCV002469239 RCV004568482

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

SNV
Germline

Chr10:43112849

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA034881

rs_369769303

6 SubmittersRCV000663217 RCV000862007 RCV001012564 RCV001104474 RCV001104475 RCV001104476 RCV001104477 RCV004546550

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

SNV
Germline

Chr10:43118499

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA038787

rs_778745375

9 SubmittersRCV000662501 RCV002256459 RCV000835063 RCV001455001 RCV004740392 RCV005034230 RCV005240417

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

SNV
Germline

Chr10:43113656

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035823

rs_79890926

6 SubmittersRCV000695872 RCV002256461 RCV005427235 RCV005034231 RCV004740393

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

Criteria Provided
Conflicting Classifications

CA206256179

rs_898525501

7 SubmittersRCV000679753 RCV001066218 RCV002499197 RCV002352100 RCV003459652

NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)

SNV
Germline

Chr4:41745887

Conflicting classifications of pathogenicity

Haddad syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Neuroblastoma, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA2901400

rs_769663483

4 SubmittersRCV000698405 RCV001018142 RCV003238806 RCV005034312

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

SNV
Germline

Chr10:43109061

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031493

rs_763670106

5 SubmittersRCV000687406 RCV001017260 RCV003459671 RCV003442020

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

SNV
Germline

Chr10:43111393

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376549682

rs_755660496

3 SubmittersRCV000702631 RCV002388321 RCV005034318

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

SNV
Germline

Chr10:43126629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042562

rs_757373375

6 SubmittersRCV000706711 RCV001018566 RCV003238196 RCV003460986

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

SNV
Germline

Chr10:43102402

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA043594

rs_138265837

5 SubmittersRCV000688498 RCV001021592 RCV002469258 RCV002485619 RCV004692095

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

SNV
Germline

Chr10:43114729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA037409

rs_774983492

10 SubmittersRCV000703840 RCV000709118 RCV000708756 RCV001104666 RCV001104667 RCV001104668 RCV001104665 RCV002499266 RCV004588148

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

SNV
Germline

Chr10:43126687

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376558496

rs_1564501944

3 SubmittersRCV000688272 RCV005046927 RCV004659166

NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)

SNV
Germline

Chr13:77903538

Conflicting classifications of pathogenicity

Hearing impairment
Aganglionosis, total intestinal
Waardenburg syndrome type 4A
Hirschsprung disease, susceptibility to, 2
Hearing loss, autosomal recessive
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7012311

rs_781214034

6 SubmittersRCV000758016 RCV001809794 RCV001112191 RCV001291323 RCV004619404 RCV002464308

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

Criteria Provided
Conflicting Classifications

CA045033

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

Criteria Provided
Conflicting Classifications

CA376544612

rs_756216318

7 SubmittersRCV000819920 RCV001788362 RCV002495168 RCV002363147 RCV003130074

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

SNV
Germline

Chr10:43106516

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA030592

rs_144981275

5 SubmittersRCV000814407 RCV001009678 RCV003467473 RCV004740458 RCV004792517

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

SNV
Germline

Chr10:43106571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031100

rs_145402131

6 SubmittersRCV000824530 RCV001009795 RCV004569789 RCV005047121 RCV004792544

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

SNV
Germline

Chr10:43111286

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376549104

rs_760832715

3 SubmittersRCV000802993 RCV002386436 RCV005036168

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

SNV
Germline

Chr10:43111364

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033507

rs_747139265

4 SubmittersRCV000800480 RCV001011510 RCV005036163

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

SNV
Germline

Chr10:43118453

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376555847

rs_1352006130

6 SubmittersRCV002453836 RCV002495126 RCV000811746 RCV003461202 RCV004773182 RCV004792510

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

SNV
Germline

Chr10:43113676

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA376552871

rs_1588873476

4 SubmittersRCV000825021 RCV003141864 RCV003532285

NM_000514.4(GDNF):c.*5G>A

SNV
Germline

Chr5:37815646

Conflicting classifications of pathogenicity

not specified
Hirschsprung disease, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA3241159

rs_145996577

2 SubmittersRCV000825928 RCV001154267

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

SNV
Germline

Chr10:43105038

Pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376544690

rs_1588866040

1 SubmittersRCV000853339

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

SNV
Germline

Chr10:43114689

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA469479981

rs_1588874416

6 SubmittersRCV000865755 RCV002501251 RCV002416009 RCV005423044 RCV004997418

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

SNV
Germline

Chr10:43114745

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA593290004

rs_1331402266

4 SubmittersRCV000876638 RCV004530852 RCV005427346 RCV005047139

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

SNV
Germline

Chr10:43106398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376545706

rs_1480040525

5 SubmittersRCV001018506 RCV001344857 RCV004588490 RCV002489523

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

SNV
Germline

Chr10:43111306

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033292

rs_145966037

4 SubmittersRCV001011134 RCV001070712 RCV002481819

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

SNV
Germline

Chr10:43128228

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376559230

rs_1305555370

5 SubmittersRCV001019824 RCV001240737 RCV004569985 RCV004998557

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

SNV
Germline

Chr10:43111383

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA033633

rs_763296134

3 SubmittersRCV001048411 RCV002393238 RCV003462539

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

SNV
Germline

Chr10:43128116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA054728

rs_144730090

6 SubmittersRCV001056445 RCV003238833 RCV002445297 RCV002482014 RCV005055150

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

SNV
Germline

Chr10:43111197

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA916081582

rs_1837911590

2 SubmittersRCV001040346 RCV002481879

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

SNV
Germline

Chr10:43120102

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376557057

rs_1838178869

1 SubmittersRCV001089963

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

SNV
Germline

Chr10:43128298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA053931

rs_199639914

2 SubmittersRCV001103050 RCV001103049 RCV001104961 RCV001104962 RCV003321801

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

SNV
Germline

Chr10:43129315

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206268406

rs_143948954

2 SubmittersRCV001105164 RCV001105162 RCV001105163 RCV001105165 RCV002264184

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

SNV
Germline

Chr10:43129595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206268455

rs_141016377

1 SubmittersRCV001103337 RCV001103338 RCV001103339 RCV001103340

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

SNV
Germline

Chr10:43129699

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206268468

rs_775114955

2 SubmittersRCV001105257 RCV001105256 RCV001105254 RCV001105255 RCV002275285

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

SNV
Germline

Chr10:43130081

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206268532

rs_183817000

1 SubmittersRCV001103515 RCV001103516 RCV001105442 RCV001105441

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

SNV
Germline

Chr10:43114475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1139659376

rs_1838016447

3 SubmittersRCV001102655 RCV001102656 RCV001107890 RCV002411629 RCV001107889 RCV005093487

NM_001122659.3(EDNRB):c.99T>C (p.Pro33=)

SNV
Germline

Chr13:77918475

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
Condition: not provided
EDNRB-related disorder

Criteria Provided
Conflicting Classifications

CA7012396

rs_1050929

3 SubmittersRCV001115169 RCV002558142 RCV003928715

NM_001122659.3(EDNRB):c.483+15C>T

SNV
Germline

Chr13:77918076

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA253049848

rs_936183003

2 SubmittersRCV001112192 RCV002069812

NM_000514.4(GDNF):c.292G>T (p.Ala98Ser)

SNV
Germline

Chr5:37815995

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA3241206

rs_141837966

2 SubmittersRCV001155106 RCV004032815

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

Criteria Provided
Conflicting Classifications

CA206256823

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

Criteria Provided
Conflicting Classifications

CA045620

rs_756761746

6 SubmittersRCV001206433 RCV002484114 RCV002256697 RCV005428136

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

Criteria Provided
Conflicting Classifications

CA376549337

rs_1313331250

5 SubmittersRCV001228900 RCV002393566 RCV002497777 RCV003153952

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

SNV
Germline

Chr10:43128256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206268174

rs_1003057639

5 SubmittersRCV001238151 RCV002246228 RCV002322139 RCV003462806

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

SNV
Germline

Chr10:43100481

Conflicting classifications of pathogenicity

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

CA469490328

rs_139821724

3 SubmittersRCV001490144 RCV005038240 RCV005271321

NM_001397.3(ECE1):c.1966G>A (p.Gly656Arg)

SNV
Germline

Chr1:21225324

Likely pathogenic

Hirschsprung disease, cardiac defects, and autonomic dysfunction

Criteria Provided
Single Submitter

CA664971

rs_367812436

1 SubmittersRCV001647332

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

SNV
Germline

Chr10:43111202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA927697148

rs_9282835

5 SubmittersRCV001566899 RCV001866004 RCV002414269 RCV002488386

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

SNV
Germline

Chr10:43113642

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376552800

rs_1393753095

3 SubmittersRCV001877157 RCV004656696 RCV005040448

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

SNV
Germline

Chr10:43126734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206267867

rs_897706317

3 SubmittersRCV002200386 RCV005238217 RCV005042717

NM_020975.6(RET):c.1880-12C>G

SNV
Germline

Chr10:43114468

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036097

rs_374893494

3 SubmittersRCV002128478 RCV005032177

NM_020975.6(RET):c.2802-17C>G

SNV
Germline

Chr10:43123654

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2573145062

rs_750812195

2 SubmittersRCV002147889 RCV005032168

NM_001122659.3(EDNRB):c.596+1G>A

SNV
Germline

Chr13:77903494

Pathogenic/Likely pathogenic

Condition: not provided
Hirschsprung disease, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA388451272

rs_1879111145

3 SubmittersRCV002244438 RCV004785538

NM_020975.6(RET):c.2136+2T>G

SNV
Germline

Chr10:43114738

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376553433

rs_2132856009

4 SubmittersRCV002289007 RCV002416555 RCV003645908

NM_020975.6(RET):c.1438G>T (p.Glu480Ter)

SNV
Germline

Chr10:43111381

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376549615

rs_537874538

1 SubmittersRCV002289465

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

SNV
Germline

Chr10:43112868

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA376551792

rs_2538470328

2 SubmittersRCV002403881 RCV003492764

NM_020975.6(RET):c.1522+1G>A

SNV
Germline

Chr10:43111466

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376550056

rs_2132777851

1 SubmittersRCV002472204

NM_020975.6(RET):c.2617C>T (p.Arg873Trp)

SNV
Germline

Chr10:43120090

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA376556992

rs_1838178513

2 SubmittersRCV003150912 RCV003274351

NM_020975.6(RET):c.1880-12C>A

SNV
Germline

Chr10:43114468

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1905813442

rs_374893494

2 SubmittersRCV003835821 RCV005040544

NM_020975.6(RET):c.277G>A (p.Gly93Ser)

SNV
Germline

Chr10:43100662

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376770471

rs_1477699803

1 SubmittersRCV003990837

NM_020975.6(RET):c.2888T>C (p.Leu963Pro)

SNV
Germline

Chr10:43123757

Likely pathogenic

Hirschsprung disease, susceptibility to, 1

Criteria Provided
Single Submitter

CA376557893

rs_2538616392

1 SubmittersRCV004555733

NM_020975.6(RET):c.2672C>T (p.Ser891Leu)

SNV
Germline

Chr10:43120145

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005035982