ClinVar for MedGen (Select 414167) - ClinVar

Links from MedGen

Items: 86

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25774461.	NM_172351.3(CD46):c.907del (p.Arg303fs) GRCh37: Chr1:207943671 GRCh38: Chr1:207770326	CD46	R288fs, R303fs, R318fs	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Pathogenic (Apr 29, 2022)	no assertion criteria provided
Select item 19171352.	NM_172351.3(CD46):c.944-1G>C GRCh37: Chr1:207956636 GRCh38: Chr1:207783291	CD46		not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Conflicting interpretations of pathogenicity (Feb 27, 2023)	criteria provided, conflicting interpretations
Select item 16987413.	NM_172351.3(CD46):c.191G>T (p.Cys64Phe) GRCh37: Chr1:207930452 GRCh38: Chr1:207757107	CD46	C64F	not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16013474.	NM_172351.3(CD46):c.286+27del GRCh37: Chr1:207930565 GRCh38: Chr1:207757220	CD46		not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign/Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15910865.	NM_172351.3(CD46):c.261A>G (p.Leu87=) GRCh37: Chr1:207930522 GRCh38: Chr1:207757177	CD46		not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Likely benign (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13334616.	NM_172351.3(CD46):c.350_351dup (p.Glu118fs) GRCh37: Chr1:207930947-207930948 GRCh38: Chr1:207757602-207757603	CD46	E118fs	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 11850177.	NM_172351.3(CD46):c.198A>T (p.Lys66Asn) GRCh37: Chr1:207930459 GRCh38: Chr1:207757114	CD46	K66N	not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 11850168.	NM_172351.3(CD46):c.72G>A (p.Met24Ile) GRCh37: Chr1:207925629 GRCh38: Chr1:207752284	CD46	M24I	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jul 27, 2021)	criteria provided, single submitter
Select item 11629049.	NM_172351.3(CD46):c.535G>C (p.Glu179Gln) GRCh37: Chr1:207934653 GRCh38: Chr1:207761308	CD46	E179Q	not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Conflicting interpretations of pathogenicity (Aug 24, 2022)	criteria provided, conflicting interpretations
Select item 102959310.	NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu) GRCh37: Chr1:207934676-207934677 GRCh38: Chr1:207761331-207761332	CD46	V187L	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 98810411.	NM_172351.3(CD46):c.476-6_476-5delinsG GRCh37: Chr1:207934588-207934589 GRCh38: Chr1:207761243-207761244	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 87676012.	NM_172351.3(CD46):c.*1418T>C GRCh37: Chr1:207968240 GRCh38: Chr1:207794895	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87675913.	NM_172351.3(CD46):c.*1272C>T GRCh37: Chr1:207968094 GRCh38: Chr1:207794749	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87675814.	NM_172351.3(CD46):c.*1265T>C GRCh37: Chr1:207968087 GRCh38: Chr1:207794742	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87675715.	NM_172351.3(CD46):c.*1211C>T GRCh37: Chr1:207968033 GRCh38: Chr1:207794688	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87675616.	NM_172351.3(CD46):c.*1146G>C GRCh37: Chr1:207967968 GRCh38: Chr1:207794623	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87670517.	NM_172351.3(CD46):c.857-185T>C GRCh37: Chr1:207940939 GRCh38: Chr1:207767594	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, not provided	Conflicting interpretations of pathogenicity (Aug 4, 2022)	criteria provided, conflicting interpretations
Select item 87670418.	NM_172351.3(CD46):c.586G>C (p.Gly196Arg) GRCh37: Chr1:207934704 GRCh38: Chr1:207761359	CD46	G196R	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 87670319.	NM_172351.3(CD46):c.453C>T (p.Ser151=) GRCh37: Chr1:207933047 GRCh38: Chr1:207759702	CD46		Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, not provided	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87576020.	NM_172351.3(CD46):c.*672A>T GRCh37: Chr1:207967494 GRCh38: Chr1:207794149	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87575921.	NM_172351.3(CD46):c.*518A>G GRCh37: Chr1:207967340 GRCh38: Chr1:207793995	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87571122.	NM_172351.3(CD46):c.293C>T (p.Thr98Ile) GRCh37: Chr1:207930891 GRCh38: Chr1:207757546	CD46	T98I	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, not provided	Conflicting interpretations of pathogenicity (Oct 1, 2020)	criteria provided, conflicting interpretations
Select item 87571023.	NM_172351.3(CD46):c.285T>C (p.Tyr95=) GRCh37: Chr1:207930546 GRCh38: Chr1:207757201	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, not provided, Atypical hemolytic-uremic syndrome	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 87570924.	NM_172351.3(CD46):c.245G>A (p.Arg82Gln) GRCh37: Chr1:207930506 GRCh38: Chr1:207757161	CD46	R82Q	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, not provided	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87570825.	NM_172351.3(CD46):c.38C>T (p.Ser13Phe) GRCh37: Chr1:207925595 GRCh38: Chr1:207752250	CD46	S13F	not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87570726.	NM_172351.3(CD46):c.-10C>T GRCh37: Chr1:207925548 GRCh38: Chr1:207752203	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87570627.	NM_172351.3(CD46):c.-11C>A GRCh37: Chr1:207925547 GRCh38: Chr1:207752202	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87482828.	NM_172351.3(CD46):c.*467T>C GRCh37: Chr1:207967289 GRCh38: Chr1:207793944	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87482729.	NM_172351.3(CD46):c.1104C>T (p.Thr368=) GRCh37: Chr1:207963619 GRCh38: Chr1:207790274	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, not provided	Conflicting interpretations of pathogenicity (Feb 11, 2022)	criteria provided, conflicting interpretations
Select item 87482630.	NM_172351.3(CD46):c.1090C>T (p.Leu364=) GRCh37: Chr1:207963605 GRCh38: Chr1:207790260	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87478331.	NM_172351.3(CD46):c.-127A>G GRCh37: Chr1:207925431 GRCh38: Chr1:207752086	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87392832.	NM_172351.3(CD46):c.*1865G>C GRCh37: Chr1:207968687 GRCh38: Chr1:207795342	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87392733.	NM_172351.3(CD46):c.*1614G>A GRCh37: Chr1:207968436 GRCh38: Chr1:207795091	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87392634.	NM_172351.3(CD46):c.*1613C>T GRCh37: Chr1:207968435 GRCh38: Chr1:207795090	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87387535.	NM_172351.3(CD46):c.1082+13A>T GRCh37: Chr1:207959040 GRCh38: Chr1:207785695	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87387436.	NM_172351.3(CD46):c.1018+7A>G GRCh37: Chr1:207958458 GRCh38: Chr1:207785113	CD46		not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Conflicting interpretations of pathogenicity (Feb 10, 2022)	criteria provided, conflicting interpretations
Select item 87387337.	NM_172351.3(CD46):c.926C>T (p.Pro309Leu) GRCh37: Chr1:207943690 GRCh38: Chr1:207770345	CD46	P309L, P324L, P294L	not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82996738.	NM_172351.3(CD46):c.101C>T (p.Ala34Val) GRCh37: Chr1:207930362 GRCh38: Chr1:207757017	CD46	A34V	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jun 5, 2019)	no assertion criteria provided
Select item 82990339.	NM_172351.3(CD46):c.714_715del (p.Gln238fs) GRCh37: Chr1:207940397-207940398 GRCh38: Chr1:207767052-207767053	CD46	Q238fs	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Likely pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 82986340.	NM_172351.3(CD46):c.828G>A (p.Trp276Ter) GRCh37: Chr1:207940512 GRCh38: Chr1:207767167	CD46	W276*	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Pathogenic (Jun 5, 2019)	no assertion criteria provided
Select item 79182841.	NM_172351.3(CD46):c.861G>A (p.Ser287=) GRCh37: Chr1:207941128 GRCh38: Chr1:207767783	CD46		not specified, Kidney disorder, not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79182742.	NM_172351.3(CD46):c.796G>A (p.Asp266Asn) GRCh37: Chr1:207940480 GRCh38: Chr1:207767135	CD46	D266N	not specified, Kidney disorder, not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 63550043.	NM_172351.3(CD46):c.404del (p.Gly135fs) GRCh37: Chr1:207932997 GRCh38: Chr1:207759652	CD46	G135fs	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Pathogenic (Oct 23, 2018)	no assertion criteria provided
Select item 59906044.	NM_172351.3(CD46):c.604C>T (p.Leu202Phe) GRCh37: Chr1:207934722 GRCh38: Chr1:207761377	CD46	L202F	not provided	Uncertain significance (Mar 16, 2021)	criteria provided, single submitter
Select item 52221645.	NM_172351.3(CD46):c.417A>G (p.Leu139=) GRCh37: Chr1:207933011 GRCh38: Chr1:207759666	CD46		not specified, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Kidney disorder, not provided	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50583146.	NM_172351.3(CD46):c.286+2T>G GRCh37: Chr1:207930549 GRCh38: Chr1:207757204	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, not provided	Pathogenic/Likely pathogenic (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44419347.	NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) GRCh37: Chr1:207963618 GRCh38: Chr1:207790273	CD46	T383I, T339I, T368I, T354I, T353I	not specified, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 43867248.	NM_172351.3(CD46):c.685C>T (p.Arg229Ter) GRCh37: Chr1:207940369 GRCh38: Chr1:207767024	CD46	R229*	not provided	Likely pathogenic (Aug 15, 2023)	criteria provided, single submitter
Select item 36994849.	NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) GRCh37: Chr1:207934659-207934660 GRCh38: Chr1:207761314-207761315	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Pathogenic	no assertion criteria provided
Select item 29499650.	NM_172351.3(CD46):c.*1963C>T GRCh37: Chr1:207968785 GRCh38: Chr1:207795440	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29499551.	NM_172351.3(CD46):c.*1888C>T GRCh37: Chr1:207968710 GRCh38: Chr1:207795365	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29499452.	NM_172351.3(CD46):c.*1875T>G GRCh37: Chr1:207968697 GRCh38: Chr1:207795352	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29499353.	NM_172351.3(CD46):c.*1665G>A GRCh37: Chr1:207968487 GRCh38: Chr1:207795142	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29499254.	NM_172351.3(CD46):c.*1659A>G GRCh37: Chr1:207968481 GRCh38: Chr1:207795136	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29499155.	NM_172351.3(CD46):c.*1641A>G GRCh37: Chr1:207968463 GRCh38: Chr1:207795118	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29499056.	NM_172351.3(CD46):c.*1498G>T GRCh37: Chr1:207968320 GRCh38: Chr1:207794975	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29498957.	NM_172351.3(CD46):c.*1435T>C GRCh37: Chr1:207968257 GRCh38: Chr1:207794912	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29498858.	NM_172351.3(CD46):c.*1111C>G GRCh37: Chr1:207967933 GRCh38: Chr1:207794588	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29498759.	NM_172351.3(CD46):c.*1099A>G GRCh37: Chr1:207967921 GRCh38: Chr1:207794576	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29498660.	NM_172351.3(CD46):c.*968T>A GRCh37: Chr1:207967790 GRCh38: Chr1:207794445	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29498561.	NM_172351.3(CD46):c.*920A>G GRCh37: Chr1:207967742 GRCh38: Chr1:207794397	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29498462.	NM_172351.3(CD46):c.*918G>A GRCh37: Chr1:207967740 GRCh38: Chr1:207794395	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29498363.	NM_172351.3(CD46):c.*897T>C GRCh37: Chr1:207967719 GRCh38: Chr1:207794374	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29498264.	NM_172351.3(CD46):c.*614T>C GRCh37: Chr1:207967436 GRCh38: Chr1:207794091	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29498165.	NM_172351.3(CD46):c.*517T>A GRCh37: Chr1:207967339 GRCh38: Chr1:207793994	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29498066.	NM_172351.3(CD46):c.*503A>G GRCh37: Chr1:207967325 GRCh38: Chr1:207793980	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29497967.	NM_172351.3(CD46):c.*180T>C GRCh37: Chr1:207967002 GRCh38: Chr1:207793657	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29497868.	NM_172351.3(CD46):c.*52G>A GRCh37: Chr1:207966874 GRCh38: Chr1:207793529	CD46	G365S, G351S, M328I, G350S, G380S, M352I, G336S	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29497769.	NM_172351.3(CD46):c.*31A>G GRCh37: Chr1:207963680 GRCh38: Chr1:207790335	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29497670.	NM_172351.3(CD46):c.1083-10C>T GRCh37: Chr1:207963588 GRCh38: Chr1:207790243	CD46		not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29497571.	NM_172351.3(CD46):c.1013C>T (p.Ala338Val) GRCh37: Chr1:207958446 GRCh38: Chr1:207785101	CD46	A353V, A323V, A338V, A309V, A324V	not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Myofibrillar myopathy 6	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 29497472.	NM_172351.3(CD46):c.949C>G (p.Pro317Ala) GRCh37: Chr1:207956642 GRCh38: Chr1:207783297	CD46	P332A, P302A, P317A, P288A, P303A	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29497373.	NM_172351.3(CD46):c.901+9A>G GRCh37: Chr1:207941177 GRCh38: Chr1:207767832	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29497274.	NM_172351.3(CD46):c.887C>T (p.Ala296Val) GRCh37: Chr1:207941154 GRCh38: Chr1:207767809	CD46	A311V, A296V	not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29497175.	NM_172351.3(CD46):c.860C>T (p.Ser287Leu) GRCh37: Chr1:207941127 GRCh38: Chr1:207767782	CD46	S302L, S287L	not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29497076.	NM_172351.3(CD46):c.857-124T>A GRCh37: Chr1:207941000 GRCh38: Chr1:207767655	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Nov 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29496977.	NM_172351.3(CD46):c.574G>C (p.Asp192His) GRCh37: Chr1:207934692 GRCh38: Chr1:207761347	CD46	D192H	not provided, Kidney disorder, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 29496878.	NM_172351.3(CD46):c.276C>T (p.Asp92=) GRCh37: Chr1:207930537 GRCh38: Chr1:207757192	CD46		not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 29496779.	NM_172351.3(CD46):c.118A>G (p.Thr40Ala) GRCh37: Chr1:207930379 GRCh38: Chr1:207757034	CD46	T40A	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Uncertain significance (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26598180.	NM_172351.3(CD46):c.776del (p.Gly259fs) GRCh37: Chr1:207940458 GRCh38: Chr1:207767113	CD46	G259fs	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Pathogenic	no assertion criteria provided
Select item 1704981.	NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) GRCh37: Chr1:207930365 GRCh38: Chr1:207757020	CD46	C35Y	not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 1704882.	NM_172351.3(CD46):c.175C>T (p.Arg59Ter) GRCh37: Chr1:207930436 GRCh38: Chr1:207757091	CD46	R59*	not provided	Pathogenic (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1704783.	NM_172351.3(CD46):c.98-1G>C GRCh37: Chr1:207930358 GRCh38: Chr1:207757013	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	risk factor (Aug 15, 2006)	no assertion criteria provided
Select item 1704684.	NM_172351.3(CD46):c.718T>C (p.Ser240Pro) GRCh37: Chr1:207940402 GRCh38: Chr1:207767057	CD46	S240P	not provided	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 1704585.	NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del) GRCh37: Chr1:207940493-207940498 GRCh38: Chr1:207767148-207767153	CD46		Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	risk factor (Oct 28, 2003)	no assertion criteria provided
Select item 1704486.	NM_172351.3(CD46):c.800_801del (p.Thr267fs) GRCh37: Chr1:207940481-207940482 GRCh38: Chr1:207767136-207767137	CD46	T267fs	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	risk factor (Nov 8, 2003)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 86