ClinVar for MedGen (Select 9958) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25779011.	NM_020975.6(RET):c.1267G>T (p.Gly423Trp) GRCh37: Chr10:43606658 GRCh38: Chr10:43111210	RET	G169W, G181W, G248W, G277W, G291W, G327W, G380W, G423W, G93W	Multiple endocrine neoplasia, type 2a	Uncertain significance (May 23, 2023)	criteria provided, single submitter
Select item 25732462.	NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp) GRCh37: Chr10:43613840-43613843 GRCh38: Chr10:43118392-43118395	RET	E285D, E333D, E373D, E424D, E426D, E429D, E438D, E469D, E514D, E526D, E593D, E622D, E636D, E672D, E680D, E723D, E725D, E768D	Multiple endocrine neoplasia, type 2a	Pathogenic (Mar 22, 2023)	criteria provided, single submitter
Select item 25035153.	NM_020975.6(RET):c.2996C>G (p.Ala999Gly) GRCh37: Chr10:43620387 GRCh38: Chr10:43124939	RET	A516G, A564G, A604G, A655G, A657G, A660G, A669G, A700G, A745G, A757G, A824G, A853G, A867G, A903G, A911G, A954G, A956G, A999G	Multiple endocrine neoplasia, type 2a	Uncertain significance (Mar 31, 2023)	criteria provided, single submitter
Select item 24448934.	NM_020975.6(RET):c.2420C>G (p.Ala807Gly) GRCh37: Chr10:43615006 GRCh38: Chr10:43119558	RET	A324G, A372G, A412G, A463G, A465G, A468G, A477G, A508G, A553G, A565G, A632G, A661G, A675G, A711G, A719G, A762G, A764G, A807G	Multiple endocrine neoplasia, type 2a	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 17096665.	NM_020975.6(RET):c.1897_1899del (p.Leu633del) GRCh37: Chr10:43609944-43609946 GRCh38: Chr10:43114496-43114498	RET	L150del, L198del, L238del, L291del, L294del, L303del, L334del, L379del, L391del, L458del, L487del, L501del, L537del, L590del, L633del	Multiple endocrine neoplasia, type 2a	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 16974586.	NM_020975.6(RET):c.626-41G>A GRCh37: Chr10:43600359 GRCh38: Chr10:43104911	RET		not specified, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma	Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16685767.	NM_020975.6(RET):c.2433C>T (p.Ser811=) GRCh37: Chr10:43615019 GRCh38: Chr10:43119571	RET		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	Likely benign (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16673428.	NM_020975.6(RET):c.1879+18G>A GRCh37: Chr10:43609141 GRCh38: Chr10:43113693	RET		Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16627439.	NM_020975.6(RET):c.868-18G>T GRCh37: Chr10:43601806 GRCh38: Chr10:43106358	RET		Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165427410.	NM_020975.6(RET):c.1263+19C>T GRCh37: Chr10:43604697 GRCh38: Chr10:43109249	RET		Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a	Likely benign (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161316311.	NM_020975.6(RET):c.810C>A (p.Pro270=) GRCh37: Chr10:43600584 GRCh38: Chr10:43105136	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a	Likely benign (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160544612.	NM_020975.6(RET):c.2284+15C>T GRCh37: Chr10:43612194 GRCh38: Chr10:43116746	RET		Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2	Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159812813.	NM_020975.6(RET):c.2939+13T>C GRCh37: Chr10:43619269 GRCh38: Chr10:43123821	RET		Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159254414.	NM_020975.6(RET):c.73+17G>T GRCh37: Chr10:43572796 GRCh38: Chr10:43077348	RET		Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158425315.	NM_020975.6(RET):c.1648+14A>G GRCh37: Chr10:43607686 GRCh38: Chr10:43112238	RET		Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a	Likely benign (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156040416.	NM_020975.6(RET):c.625+11A>G GRCh37: Chr10:43598088 GRCh38: Chr10:43102640	RET		Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2	Likely benign (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153869317.	NM_020975.6(RET):c.1230C>G (p.Leu410=) GRCh37: Chr10:43604645 GRCh38: Chr10:43109197	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152104118.	NM_020975.6(RET):c.2480T>C (p.Leu827Pro) GRCh37: Chr10:43615066 GRCh38: Chr10:43119618	RET	L827P, L573P, L344P, L392P, L528P, L652P, L739P, L784P, L483P, L488P, L681P, L432P, L585P, L695P, L731P, L485P, L497P, L782P	Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Pheochromocytoma	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148171819.	NM_020975.6(RET):c.592C>T (p.Pro198Ser) GRCh37: Chr10:43598044 GRCh38: Chr10:43102596	RET	P198S, P155S	Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Pheochromocytoma, Multiple endocrine neoplasia, type 2	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143649720.	NM_020975.6(RET):c.3174A>C (p.Glu1058Asp) GRCh37: Chr10:43622157 GRCh38: Chr10:43126709	RET	E1058D, E804D, E714D, E728D, E926D, E962D, E1013D, E1015D, E663D, E816D, E883D, E623D, E716D, E719D, E759D, E970D, E575D, E912D	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	Uncertain significance (Dec 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143072121.	NM_020975.6(RET):c.1829A>G (p.Asn610Ser) GRCh37: Chr10:43609073 GRCh38: Chr10:43113625	RET	N610S, N356S, N215S, N268S, N478S, N567S, N127S, N280S, N311S, N514S, N368S, N435S, N464S	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2a	Uncertain significance (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142152522.	NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys) GRCh37: Chr1:10384920 GRCh38: Chr1:10324862	KIF1B	Y881C, Y835C	Hereditary cancer-predisposing syndrome, Charcot-Marie-Tooth disease type 2, Multiple endocrine neoplasia, type 2a	Conflicting interpretations of pathogenicity (Jun 6, 2023)	criteria provided, conflicting interpretations
Select item 138532423.	NM_020975.6(RET):c.3179A>G (p.Lys1060Arg) GRCh37: Chr10:43622162 GRCh38: Chr10:43126714	RET	K806R, K1060R, K1015R, K625R, K718R, K761R, K885R, K972R, K716R, K721R, K818R, K964R, K1017R, K577R, K914R, K928R, K665R, K730R	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma	Uncertain significance (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137261124.	NM_020975.6(RET):c.1826G>C (p.Cys609Ser) GRCh37: Chr10:43609070 GRCh38: Chr10:43113622	RET	C609S, C355S, C126S, C279S, C214S, C367S, C463S, C477S, C566S, C267S, C310S, C434S, C513S	Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome	Pathogenic (Apr 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 122927325.	NM_020975.6(RET):c.73+53G>A GRCh37: Chr10:43572832 GRCh38: Chr10:43077384	RET		not provided, Multiple endocrine neoplasia, type 2a	Benign (Aug 6, 2019)	criteria provided, multiple submitters, no conflicts
Select item 120151726.	NM_020975.6(RET):c.1264-5C>A GRCh37: Chr10:43606650 GRCh38: Chr10:43111202	RET		not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 113631327.	NM_020975.6(RET):c.2487T>C (p.Ser829=) GRCh37: Chr10:43615073 GRCh38: Chr10:43119625	RET		Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2	Likely benign (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110624028.	NM_020975.6(RET):c.960C>T (p.Pro320=) GRCh37: Chr10:43601916 GRCh38: Chr10:43106468	RET		Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, not specified, Multiple endocrine neoplasia, type 2	Benign/Likely benign (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110393529.	NM_020975.6(RET):c.2700T>C (p.Tyr900=) GRCh37: Chr10:43615621 GRCh38: Chr10:43120173	RET		Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Multiple endocrine neoplasia, type 2a	Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109351730.	NM_020975.6(RET):c.1617C>A (p.Gly539=) GRCh37: Chr10:43607641 GRCh38: Chr10:43112193	RET		Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a	Likely benign (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 108429231.	NM_020975.6(RET):c.2985G>A (p.Arg995=) GRCh37: Chr10:43620376 GRCh38: Chr10:43124928	RET		Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a	Likely benign (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104494732.	NM_020975.6(RET):c.565C>T (p.Arg189Cys) GRCh37: Chr10:43598017 GRCh38: Chr10:43102569	RET	R189C, R146C	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101630633.	NM_020975.6(RET):c.445TTC[1] (p.Phe150del) GRCh37: Chr10:43597896-43597898 GRCh38: Chr10:43102448-43102450	RET	F150del	Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100812534.	NM_020975.6(RET):c.1828A>C (p.Asn610His) GRCh37: Chr10:43609072 GRCh38: Chr10:43113624	RET	N356H, N610H, N280H, N464H, N127H, N215H, N268H, N435H, N478H, N514H, N311H, N368H, N567H	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100126235.	NM_020975.6(RET):c.3124G>A (p.Asp1042Asn) GRCh37: Chr10:43622107 GRCh38: Chr10:43126659	RET	D1042N, D788N, D559N, D698N, D954N, D999N, D647N, D700N, D703N, D743N, D800N, D896N, D910N, D946N, D607N, D712N, D867N, D997N	Multiple endocrine neoplasia, type 2, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100121336.	NM_020975.6(RET):c.452A>T (p.Asn151Ile) GRCh37: Chr10:43597904 GRCh38: Chr10:43102456	RET	N151I	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b	Uncertain significance (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97907037.	NM_020975.6(RET):c.3222dup (p.Val1075fs) GRCh37: Chr10:43623593-43623594 GRCh38: Chr10:43128145-43128146	RET	V1075fs	Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Jul 14, 2021)	criteria provided, conflicting interpretations
Select item 97203138.	NM_020975.6(RET):c.3031A>G (p.Lys1011Glu) GRCh37: Chr10:43620422 GRCh38: Chr10:43124974	RET	K757E, K1011E, K712E, K865E, K879E, K923E, K528E, K576E, K669E, K672E, K681E, K769E, K966E, K836E, K915E, K968E, K616E, K667E	Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Multiple endocrine neoplasia, type 2	Uncertain significance (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97186539.	NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys) GRCh37: Chr10:43622027 GRCh38: Chr10:43126579	RET	Y761C, Y1015C, Y673C, Y773C, Y869C, Y883C, Y919C, Y671C, Y840C, Y972C, Y532C, Y580C, Y676C, Y685C, Y927C, Y970C, Y620C, Y716C	Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Multiple endocrine neoplasia, type 2	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96806640.	NM_020975.6(RET):c.677G>C (p.Arg226Pro) GRCh37: Chr10:43600451 GRCh38: Chr10:43105003	RET	R226P, R130P, R183P	Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95918741.	NM_020975.6(RET):c.2078G>A (p.Arg693His) GRCh37: Chr10:43610126 GRCh38: Chr10:43114678	RET	R693H, R439H, R451H, R648H, R650H, R351H, R363H, R394H, R547H, R605H, R210H, R298H, R597H, R258H, R349H, R354H, R518H, R561H	Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1	Uncertain significance (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95615042.	NM_020975.6(RET):c.1385C>T (p.Ser462Leu) GRCh37: Chr10:43606776 GRCh38: Chr10:43111328	RET	S462L, S208L, S132L, S366L, S287L, S316L, S419L, S220L, S330L	Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Ovarian cancer, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 95256943.	NM_020975.6(RET):c.59C>A (p.Pro20Gln) GRCh37: Chr10:43572765 GRCh38: Chr10:43077317	RET	P20Q	Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Multiple endocrine neoplasia, type 2	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94645244.	NM_020975.6(RET):c.3140C>T (p.Pro1047Leu) GRCh37: Chr10:43622123 GRCh38: Chr10:43126675	RET	P1047L, P793L, P1004L, P564L, P612L, P872L, P705L, P748L, P805L, P901L, P1002L, P652L, P717L, P915L, P951L, P703L, P708L, P959L	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b	Uncertain significance (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93989845.	NM_020975.6(RET):c.750C>T (p.Arg250=) GRCh37: Chr10:43600524 GRCh38: Chr10:43105076	RET		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	Conflicting interpretations of pathogenicity (Aug 18, 2022)	criteria provided, conflicting interpretations
Select item 93742846.	NM_020975.6(RET):c.960C>A (p.Pro320=) GRCh37: Chr10:43601916 GRCh38: Chr10:43106468	RET		Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 86409447.	NM_020975.6(RET):c.178C>T (p.Pro60Ser) GRCh37: Chr10:43596011 GRCh38: Chr10:43100563	RET	P60S	Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86282648.	NM_020975.6(RET):c.1811C>T (p.Ala604Val) GRCh37: Chr10:43609055 GRCh38: Chr10:43113607	RET	A350V, A604V, A305V, A362V, A458V, A561V, A274V, A472V, A121V, A209V, A262V, A429V, A508V	Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2	Uncertain significance (Apr 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85644549.	NM_020975.6(RET):c.443C>T (p.Ser148Phe) GRCh37: Chr10:43597895 GRCh38: Chr10:43102447	RET	S148F	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma	Uncertain significance (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85193550.	NM_020975.6(RET):c.3192G>A (p.Met1064Ile) GRCh37: Chr10:43623564 GRCh38: Chr10:43128116	RET	M1064I	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a	Conflicting interpretations of pathogenicity (Dec 29, 2022)	criteria provided, conflicting interpretations
Select item 84044651.	NM_020975.6(RET):c.473G>A (p.Ser158Asn) GRCh37: Chr10:43597925 GRCh38: Chr10:43102477	RET	S158N, S115N	Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83874152.	NM_020975.6(RET):c.1264-10G>A GRCh37: Chr10:43606645 GRCh38: Chr10:43111197	RET		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	Uncertain significance (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82311753.	NM_020975.6(RET):c.3184T>C (p.Tyr1062His) GRCh37: Chr10:43622167 GRCh38: Chr10:43126719	RET	Y1062H, Y808H, Y1017H, Y718H, Y723H, Y930H, Y974H, Y579H, Y732H, Y763H, Y916H, Y1019H, Y627H, Y667H, Y887H, Y720H, Y820H, Y966H	Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82282054.	NM_020975.6(RET):c.890G>A (p.Arg297His) GRCh37: Chr10:43601846 GRCh38: Chr10:43106398	RET	R43H, R297H, R201H, R254H	Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82264655.	NM_020975.6(RET):c.3026T>C (p.Met1009Thr) GRCh37: Chr10:43620417 GRCh38: Chr10:43124969	RET	M1009T, M755T, M679T, M913T, M526T, M574T, M665T, M767T, M863T, M921T, M964T, M667T, M670T, M877T, M614T, M710T, M834T, M966T	Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Jul 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 82224156.	NM_020975.6(RET):c.1141T>C (p.Phe381Leu) GRCh37: Chr10:43604556 GRCh38: Chr10:43109108	RET	F381L, F127L, F235L, F338L, F139L, F285L, F51L	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, not provided	Conflicting interpretations of pathogenicity (Jun 10, 2023)	criteria provided, conflicting interpretations
Select item 82129857.	NM_020975.6(RET):c.2450G>A (p.Arg817His) GRCh37: Chr10:43615036 GRCh38: Chr10:43119588	RET	R563H, R817H, R382H, R478H, R487H, R575H, R642H, R334H, R475H, R685H, R518H, R671H, R729H, R772H, R422H, R473H, R721H, R774H	Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 82103158.	NM_020975.6(RET):c.2286G>C (p.Glu762Asp) GRCh37: Chr10:43613822 GRCh38: Chr10:43118374	RET	E762D, E508D, E418D, E420D, E520D, E327D, E423D, E587D, E666D, E279D, E367D, E463D, E630D, E674D, E717D, E432D, E616D, E719D	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	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81898759.	NM_020975.6(RET):c.1363G>A (p.Val455Ile) GRCh37: Chr10:43606754 GRCh38: Chr10:43111306	RET	V201I, V455I, V213I, V280I, V412I, V309I, V323I, V359I, V125I	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	Uncertain significance (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80256860.	NM_020975.6(RET):c.2592T>C (p.Tyr864=) GRCh37: Chr10:43615178 GRCh38: Chr10:43119730	RET		Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome	Likely benign (Nov 11, 2019)	criteria provided, multiple submitters, no conflicts
Select item 80256761.	NM_020975.6(RET):c.74-50G>T GRCh37: Chr10:43595857 GRCh38: Chr10:43100409	RET		Multiple endocrine neoplasia, type 2a	Benign (May 28, 2019)	criteria provided, single submitter
Select item 74979662.	NM_020975.6(RET):c.186G>A (p.Glu62=) GRCh37: Chr10:43596019 GRCh38: Chr10:43100571	RET		Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2	Likely benign (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74551563.	NM_020975.6(RET):c.723C>T (p.Ala241=) GRCh37: Chr10:43600497 GRCh38: Chr10:43105049	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73789164.	NM_020975.6(RET):c.138C>T (p.Ala46=) GRCh37: Chr10:43595971 GRCh38: Chr10:43100523	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Pheochromocytoma, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a	Likely benign (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70616165.	NM_004304.5(ALK):c.3098T>A (p.Leu1033His) GRCh37: Chr2:29448401 GRCh38: Chr2:29225535	ALK	L1033H	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Neuroblastoma, susceptibility to, 3	Likely benign (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 70004766.	NM_020975.6(RET):c.1649-7T>C GRCh37: Chr10:43608294 GRCh38: Chr10:43112846	RET		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	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70000267.	NM_020975.6(RET):c.1311C>T (p.Asn437=) GRCh37: Chr10:43606702 GRCh38: Chr10:43111254	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b	Likely benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69836868.	NM_020975.6(RET):c.2089C>T (p.Leu697=) GRCh37: Chr10:43610137 GRCh38: Chr10:43114689	RET		Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69740669.	NM_020975.6(RET):c.825C>T (p.Gly275=) GRCh37: Chr10:43600599 GRCh38: Chr10:43105151	RET		Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2	Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66573170.	NM_020975.6(RET):c.2710T>G (p.Ser904Ala) GRCh37: Chr10:43615631 GRCh38: Chr10:43120183	RET	S650A, S904A, S421A, S758A, S808A, S509A, S560A, S562A, S565A, S574A, S662A, S772A, S816A, S469A, S605A, S729A, S859A, S861A	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2a	Uncertain significance (Jun 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66231071.	NM_020975.6(RET):c.701G>A (p.Arg234Gln) GRCh37: Chr10:43600475 GRCh38: Chr10:43105027	RET	R234Q, R138Q, R191Q	Familial medullary thyroid carcinoma, not provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b	Conflicting interpretations of pathogenicity (May 11, 2022)	criteria provided, conflicting interpretations
Select item 65555072.	NM_020975.6(RET):c.2365A>G (p.Lys789Glu) GRCh37: Chr10:43613901 GRCh38: Chr10:43118453	RET	K535E, K789E, K445E, K693E, K701E, K459E, K490E, K547E, K306E, K354E, K614E, K643E, K394E, K447E, K450E, K657E, K744E, K746E	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Pheochromocytoma, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Nov 18, 2022)	criteria provided, conflicting interpretations
Select item 65539173.	NM_020975.6(RET):c.2209A>C (p.Lys737Gln) GRCh37: Chr10:43612104 GRCh38: Chr10:43116656	RET	K483Q, K737Q, K254Q, K302Q, K342Q, K393Q, K649Q, K398Q, K495Q, K605Q, K641Q, K395Q, K407Q, K562Q, K591Q, K438Q, K692Q, K694Q	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, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65189574.	NM_020975.6(RET):c.82G>A (p.Gly28Ser) GRCh37: Chr10:43595915 GRCh38: Chr10:43100467	RET	G28S	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, not provided, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b	Conflicting interpretations of pathogenicity (May 31, 2023)	criteria provided, conflicting interpretations
Select item 61896575.	NM_020975.4(RET):c.[2410G>A;2832C>G] GRCh37: Chr10:43614996 Chr10:43619149 GRCh38: Chr10:43119548 Chr10:43123701	RET, RET	V804M, V550M, V321M, V460M, V672M, V759M, V369M, V409M, V462M, V658M, V708M, V465M, V505M, V629M, V716M, V474M, V562M, V761M, I944M, I690M, I509M, I602M, I645M, I901M, I600M, I769M, I798M, I812M, I461M, I605M, I614M, I702M, I899M, I549M, I848M, I856M	Medullary thyroid carcinoma	Pathogenic (Jun 15, 2016)	criteria provided, single submitter
Select item 58474976.	NM_020975.6(RET):c.2834T>C (p.Val945Ala) GRCh37: Chr10:43619151 GRCh38: Chr10:43123703	RET	V945A, V691A, V462A, V510A, V601A, V603A, V646A, V799A, V857A, V703A, V849A, V606A, V615A, V900A, V902A, V550A, V770A, V813A	Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2	Uncertain significance (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58474877.	NM_020975.6(RET):c.1466A>T (p.Asp489Val) GRCh37: Chr10:43606857 GRCh38: Chr10:43111409	RET	D489V, D235V, D247V, D343V, D159V, D357V, D446V, D314V, D393V	Multiple endocrine neoplasia, type 2a	Uncertain significance (Jul 2, 2018)	criteria provided, single submitter
Select item 58474778.	NM_020975.6(RET):c.1377G>T (p.Glu459Asp) GRCh37: Chr10:43606768 GRCh38: Chr10:43111320	RET	E459D, E205D, E284D, E313D, E129D, E327D, E416D, E217D, E363D	Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58474679.	NM_020975.6(RET):c.1183G>C (p.Val395Leu) GRCh37: Chr10:43604598 GRCh38: Chr10:43109150	RET	V395L, V141L, V352L, V65L, V299L, V153L, V249L	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, not provided	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58474580.	NM_020975.6(RET):c.652C>T (p.Pro218Ser) GRCh37: Chr10:43600426 GRCh38: Chr10:43104978	RET	P218S, P122S, P175S	Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58474481.	NM_020975.6(RET):c.428C>T (p.Ala143Val) GRCh37: Chr10:43597880 GRCh38: Chr10:43102432	RET	A143V	Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58456382.	NM_020975.6(RET):c.2162G>A (p.Arg721Gln) GRCh37: Chr10:43612057 GRCh38: Chr10:43116609	RET	R721Q, R467Q, R286Q, R377Q, R479Q, R625Q, R379Q, R391Q, R589Q, R676Q, R326Q, R422Q, R678Q, R238Q, R382Q, R546Q, R575Q, R633Q	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, not provided, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a	Uncertain significance (Jul 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 58177083.	NM_020975.6(RET):c.2755G>C (p.Ala919Pro) GRCh37: Chr10:43617418 GRCh38: Chr10:43121970	RET	A919P, A665P, A620P, A677P, A744P, A787P, A575P, A577P, A580P, A589P, A831P, A436P, A773P, A484P, A524P, A823P, A874P, A876P	Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 58033884.	NM_020975.6(RET):c.2129A>G (p.Lys710Arg) GRCh37: Chr10:43610177 GRCh38: Chr10:43114729	RET	K710R, K456R, K227R, K380R, K564R, K614R, K366R, K371R, K411R, K535R, K275R, K315R, K578R, K368R, K468R, K622R, K665R, K667R	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, Multiple endocrine neoplasia, type 2Renal hypodysplasia/aplasia 1, ...see more	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57340985.	NM_020975.6(RET):c.433G>A (p.Val145Ile) GRCh37: Chr10:43597885 GRCh38: Chr10:43102437	RET	V145I	Hereditary cancer-predisposing syndrome, Congenital central hypoventilation, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, not provided, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 57217586.	NM_020975.6(RET):c.1423C>T (p.Arg475Trp) GRCh37: Chr10:43606814 GRCh38: Chr10:43111366	RET	R475W, R221W, R300W, R329W, R145W, R432W, R233W, R343W, R379W	Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, not provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a	Uncertain significance (Mar 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 57057487.	NM_020975.6(RET):c.2182A>G (p.Lys728Glu) GRCh37: Chr10:43612077 GRCh38: Chr10:43116629	RET	K728E, K474E, K245E, K389E, K553E, K333E, K632E, K293E, K386E, K429E, K486E, K582E, K596E, K640E, K384E, K398E, K683E, K685E	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57022088.	NM_020975.6(RET):c.1547C>G (p.Pro516Arg) GRCh37: Chr10:43607571 GRCh38: Chr10:43112123	RET	P516R, P262R, P274R, P370R, P420R, P174R, P473R, P186R, P217R, P33R, P121R, P341R, P384R	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Pheochromocytoma, Multiple endocrine neoplasia, type 2a	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56821589.	NM_020975.6(RET):c.398G>A (p.Arg133His) GRCh37: Chr10:43597850 GRCh38: Chr10:43102402	RET	R133H	Hereditary cancer-predisposing syndrome, not specified, Multiple endocrine neoplasia, type 2, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma	Conflicting interpretations of pathogenicity (May 3, 2023)	criteria provided, conflicting interpretations
Select item 56087190.	NM_020975.6(RET):c.602G>C (p.Ser201Thr) GRCh37: Chr10:43598054 GRCh38: Chr10:43102606	RET	S201T, S158T	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54892591.	NM_020975.6(RET):c.1876C>A (p.Gln626Lys) GRCh37: Chr10:43609120 GRCh38: Chr10:43113672	RET	Q626K, Q372K, Q231K, Q143K, Q296K, Q384K, Q494K, Q284K, Q480K, Q327K, Q451K, Q530K, Q583K	Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54892292.	NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) GRCh37: Chr10:43622159 GRCh38: Chr10:43126711	RET	N1059S, N805S, N664S, N927S, N1014S, N1016S, N576S, N717S, N715S, N760S, N817S, N884S, N913S, N971S, N624S, N720S, N729S, N963S	Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54891993.	NM_020975.6(RET):c.3188-2A>G GRCh37: Chr10:43623558 GRCh38: Chr10:43128110	RET		Multiple endocrine neoplasia, type 2a	Uncertain significance (May 30, 2018)	criteria provided, single submitter
Select item 54890194.	NM_020975.6(RET):c.2137-16del GRCh37: Chr10:43612014 GRCh38: Chr10:43116566	RET		Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2	Likely benign (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54889795.	NM_020975.6(RET):c.1649-4G>A GRCh37: Chr10:43608297 GRCh38: Chr10:43112849	RET		Multiple endocrine neoplasia, Multiple endocrine neoplasia, type 2, Renal hypodysplasia/aplasia 1, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 54889396.	NM_020975.6(RET):c.2285-4T>G GRCh37: Chr10:43613817 GRCh38: Chr10:43118369	RET		Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2	Conflicting interpretations of pathogenicity (Apr 17, 2023)	criteria provided, conflicting interpretations
Select item 54887097.	NM_020975.6(RET):c.1016C>T (p.Ser339Leu) GRCh37: Chr10:43601972 GRCh38: Chr10:43106524	RET	S339L, S85L, S296L, S243L	Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Apr 17, 2023)	criteria provided, conflicting interpretations
Select item 54886498.	NM_020975.6(RET):c.1083C>A (p.Asn361Lys) GRCh37: Chr10:43604498 GRCh38: Chr10:43109050	RET	N361K, N107K, N215K, N265K, N31K, N119K, N318K	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, not specified, not provided, Multiple endocrine neoplasia, type 2a	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54884999.	NM_020975.6(RET):c.1267G>A (p.Gly423Arg) GRCh37: Chr10:43606658 GRCh38: Chr10:43111210	RET	G423R, G169R, G248R, G327R, G93R, G181R, G277R, G291R, G380R	Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 548834100.	NM_020975.6(RET):c.337+11C>T GRCh37: Chr10:43596181 GRCh38: Chr10:43100733	RET		not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts

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