ClinVar for MedGen (Select 854827) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 391

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24430641.	NM_020975.6(RET):c.2617C>T (p.Arg873Trp) GRCh37: Chr10:43615538 GRCh38: Chr10:43120090	RET	R390W, R438W, R478W, R529W, R531W, R534W, R543W, R574W, R619W, R631W, R698W, R727W, R741W, R777W, R785W, R828W, R830W, R873W	Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1	Likely pathogenic (May 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24316282.	NM_020975.6(RET):c.1759+1G>A GRCh37: Chr10:43608412 GRCh38: Chr10:43112964	RET		Hirschsprung disease, susceptibility to, 1	Likely pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 18057863.	NM_020975.6(RET):c.1522+1G>A GRCh37: Chr10:43606914 GRCh38: Chr10:43111466	RET		Hirschsprung disease, susceptibility to, 1	Likely pathogenic (May 26, 2020)	criteria provided, single submitter
Select item 17096504.	NM_020975.6(RET):c.1438G>T (p.Glu480Ter) GRCh37: Chr10:43606829 GRCh38: Chr10:43111381	RET	E150, E226, E238, E305, E334, E348, E384, E437, E480*	Hirschsprung disease, susceptibility to, 1	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 17091925.	NM_020975.6(RET):c.2136+2T>G GRCh37: Chr10:43610186 GRCh38: Chr10:43114738	RET		Hirschsprung disease, susceptibility to, 1, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 28, 2022)	criteria provided, conflicting interpretations
Select item 17090686.	NM_020975.6(RET):c.158T>C (p.Val53Ala) GRCh37: Chr10:43595991 GRCh38: Chr10:43100543	RET	V53A	Hirschsprung disease, susceptibility to, 1	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 16974587.	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 16685768.	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 16673429.	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 166274310.	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 165427411.	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 161316312.	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 160544613.	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 159812814.	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 159254415.	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 158425316.	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 156040417.	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 153869318.	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 152104119.	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 148171820.	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 143649721.	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 143072122.	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 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 120151724.	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 113631325.	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 110624026.	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 110393527.	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 109351728.	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 108429229.	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 106548730.	NM_020975.6(RET):c.898G>A (p.Asp300Asn) GRCh37: Chr10:43601854 GRCh38: Chr10:43106406	RET	D300N, D46N, D204N, D257N	Hirschsprung disease, susceptibility to, 1	Uncertain significance (Aug 6, 2020)	criteria provided, single submitter
Select item 104494731.	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 101630632.	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 100812533.	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 100126234.	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 100121335.	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 99753536.	NM_020975.6(RET):c.199C>G (p.Arg67Gly) GRCh37: Chr10:43596032 GRCh38: Chr10:43100584	RET	R67G	Hirschsprung disease, susceptibility to, 1	Uncertain significance (Feb 23, 2020)	criteria provided, single submitter
Select item 97203137.	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 97186538.	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 96806639.	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 95918740.	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 95615041.	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 95256942.	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 94645243.	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 93989844.	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 93742845.	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 88035746.	NM_020975.6(RET):c.*1516C>T GRCh37: Chr10:43625233 GRCh38: Chr10:43129785	RET		Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, Pheochromocytoma, Renal hypodysplasia/aplasia 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88021747.	NM_020975.6(RET):c.*180G>A GRCh37: Chr10:43623897 GRCh38: Chr10:43128449	RET		Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, Pheochromocytoma, Renal hypodysplasia/aplasia 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87926048.	NM_020975.6(RET):c.*1900C>A GRCh37: Chr10:43625617 GRCh38: Chr10:43130169	RET		Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, Pheochromocytoma, Renal hypodysplasia/aplasia 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87910149.	NM_020975.6(RET):c.*1112A>G GRCh37: Chr10:43624829 GRCh38: Chr10:43129381	RET		Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, Pheochromocytoma, Renal hypodysplasia/aplasia 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87900050.	NM_020975.6(RET):c.*159G>T GRCh37: Chr10:43623876 GRCh38: Chr10:43128428	RET		Hirschsprung disease, susceptibility to, 1, Renal hypodysplasia/aplasia 1, Multiple endocrine neoplasia, Pheochromocytoma	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87871051.	NM_020975.6(RET):c.-51C>T GRCh37: Chr10:43572656 GRCh38: Chr10:43077208	LOC106736614, RET		Hirschsprung disease, susceptibility to, 1, Renal hypodysplasia/aplasia 1, Pheochromocytoma, Multiple endocrine neoplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87865952.	NM_020975.6(RET):c.*1886T>G GRCh37: Chr10:43625603 GRCh38: Chr10:43130155	RET		Hirschsprung disease, susceptibility to, 1, Renal hypodysplasia/aplasia 1, Pheochromocytoma, Multiple endocrine neoplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87856253.	NM_020975.6(RET):c.*1430A>G GRCh37: Chr10:43625147 GRCh38: Chr10:43129699	RET		Multiple endocrine neoplasia, not provided, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Renal hypodysplasia/aplasia 1	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 87851754.	NM_020975.6(RET):c.*1046G>C GRCh37: Chr10:43624763 GRCh38: Chr10:43129315	RET		Multiple endocrine neoplasia, not provided, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Renal hypodysplasia/aplasia 1	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 87846755.	NM_020975.6(RET):c.*500C>G GRCh37: Chr10:43624217 GRCh38: Chr10:43128769	RET		Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Renal hypodysplasia/aplasia 1, Multiple endocrine neoplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87808456.	NM_020975.6(RET):c.1326G>T (p.Leu442=) GRCh37: Chr10:43606717 GRCh38: Chr10:43111269	RET		Renal hypodysplasia/aplasia 1, Multiple endocrine neoplasia, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87798157.	NM_020975.6(RET):c.867+4C>G GRCh37: Chr10:43600645 GRCh38: Chr10:43105197	RET		Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Renal hypodysplasia/aplasia 1, Multiple endocrine neoplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87768558.	NM_020975.6(RET):c.-160G>T GRCh37: Chr10:43572547 GRCh38: Chr10:43077099	LOC106736614, RET		Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia	Benign/Likely benign (Jul 18, 2017)	criteria provided, single submitter
Select item 87768459.	NM_020975.6(RET):c.-173A>G GRCh37: Chr10:43572534 GRCh38: Chr10:43077086	LOC106736614, RET		Pheochromocytoma, Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87764560.	NM_020975.6(RET):c.*1812C>A GRCh37: Chr10:43625529 GRCh38: Chr10:43130081	RET		Pheochromocytoma, Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 87758761.	NM_020975.6(RET):c.*1533A>G GRCh37: Chr10:43625250 GRCh38: Chr10:43129802	RET		Hirschsprung disease, susceptibility to, 1, Renal hypodysplasia/aplasia 1, Pheochromocytoma, Multiple endocrine neoplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87753562.	NM_020975.6(RET):c.*1326T>C GRCh37: Chr10:43625043 GRCh38: Chr10:43129595	RET		Hirschsprung disease, susceptibility to, 1, Renal hypodysplasia/aplasia 1, Pheochromocytoma, Multiple endocrine neoplasia	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 87749063.	NM_020975.6(RET):c.*883G>A GRCh37: Chr10:43624600 GRCh38: Chr10:43129152	RET		Hirschsprung disease, susceptibility to, 1, Renal hypodysplasia/aplasia 1, Pheochromocytoma, Multiple endocrine neoplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87744564.	NM_020975.6(RET):c.*492G>C GRCh37: Chr10:43624209 GRCh38: Chr10:43128761	RET		Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87738665.	NM_020975.6(RET):c.*29C>A GRCh37: Chr10:43623746 GRCh38: Chr10:43128298	RET		Multiple endocrine neoplasia, Hirschsprung disease, susceptibility to, 1, Renal hypodysplasia/aplasia 1, not specified, Pheochromocytoma	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 87715866.	NM_020975.6(RET):c.1880-5C>A GRCh37: Chr10:43609923 GRCh38: Chr10:43114475	RET		Hereditary cancer-predisposing syndrome, Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87709467.	NM_020975.6(RET):c.1601T>C (p.Leu534Pro) GRCh37: Chr10:43607625 GRCh38: Chr10:43112177	RET	L534P, L280P, L359P, L402P, L491P, L192P, L235P, L438P, L51P, L139P, L204P, L292P, L388P	Hereditary cancer-predisposing syndrome, Renal hypodysplasia/aplasia 1, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia	Uncertain significance (Jun 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87039468.	NM_020975.6(RET):c.2629G>C (p.Ala877Pro) GRCh37: Chr10:43615550 GRCh38: Chr10:43120102	RET	A877P, A623P, A535P, A538P, A781P, A789P, A635P, A702P, A731P, A745P, A394P, A547P, A578P, A442P, A482P, A533P, A832P, A834P	Hirschsprung disease, susceptibility to, 1	Likely pathogenic (Aug 24, 2018)	criteria provided, single submitter
Select item 86409469.	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 86282670.	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 85644571.	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 85193572.	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 84970373.	NM_020975.6(RET):c.1062T>C (p.Tyr354=) GRCh37: Chr10:43602018 GRCh38: Chr10:43106570	RET		Multiple endocrine neoplasia, type 2, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1, Renal hypodysplasia/aplasia 1, Multiple endocrine neoplasia	Uncertain significance (Sep 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 83874174.	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 82311775.	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 82282076.	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 82129877.	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 82103178.	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 81898779.	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 74979680.	NM_020975.6(RET):c.186G>A (p.Glu62=) GRCh37: Chr10:43596019 GRCh38: Chr10:43100571	RET		Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2	Likely benign (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74551581.	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 73789182.	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, Multiple endocrine neoplasia, type 2b, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma	Likely benign (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70004783.	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 70000284.	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, Familial medullary thyroid carcinoma, Pheochromocytoma, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2b	Likely benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69836885.	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 69740686.	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 69205287.	NM_020975.6(RET):c.712G>T (p.Glu238Ter) GRCh37: Chr10:43600486 GRCh38: Chr10:43105038	RET	E238, E142, E195*	Hirschsprung disease, susceptibility to, 1	Pathogenic (Sep 27, 2018)	criteria provided, single submitter
Select item 66659588.	NM_020975.6(RET):c.1879+1G>A GRCh37: Chr10:43609124 GRCh38: Chr10:43113676	RET		not provided, Hirschsprung disease, susceptibility to, 1	Pathogenic/Likely pathogenic (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66573189.	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 66231090.	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 65555091.	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 65539192.	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, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Familial medullary thyroid carcinoma, not provided	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65189593.	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 61896594.	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 59079895.	NM_020975.6(RET):c.1280_1281del (p.Val427fs) GRCh37: Chr10:43606667-43606668 GRCh38: Chr10:43111219-43111220	RET	V173fs, V427fs	Sensorineural hearing impairment, Hirschsprung disease, susceptibility to, 1	Pathogenic (Nov 6, 2018)	criteria provided, single submitter
Select item 58474596.	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 58456397.	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 58177098.	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 58033899.	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	Multiple endocrine neoplasia, Pheochromocytoma, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Pheochromocytoma, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Hirschsprung disease, susceptibility to, 1, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2Renal hypodysplasia/aplasia 1, ...see more	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 573409100.	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

<< First< Prev

Page of 4