ClinVar for MedGen (Select 444141) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 228

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25065721.	NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile) GRCh37: ChrX:119760756 GRCh38: ChrX:120626901	C1GALT1C1	T54I, T89I	Atypical hemolytic-uremic syndrome	Pathogenic (Jun 24, 2023)	criteria provided, single submitter
Select item 17124672.	NM_153704.6(TMEM67):c.333C>T (p.Gly111=) GRCh37: Chr8:94770731 GRCh38: Chr8:93758503	TMEM67		Familial aplasia of the vermis, Meckel-Gruber syndrome, Atypical hemolytic-uremic syndrome	Conflicting interpretations of pathogenicity (Aug 8, 2022)	criteria provided, conflicting interpretations
Select item 17124663.	NM_003647.3(DGKE):c.999G>A (p.Ala333=) GRCh37: Chr17:54926167 GRCh38: Chr17:56848806	DGKE		Atypical hemolytic-uremic syndrome	Uncertain significance (Mar 1, 2018)	criteria provided, single submitter
Select item 17124654.	NM_005666.4(CFHR2):c.212C>T (p.Thr71Met) GRCh37: Chr1:196918738 GRCh38: Chr1:196949608	CFHR2	T71M	not provided, Atypical hemolytic-uremic syndrome	Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17124645.	NM_000361.3(THBD):c.1057C>A (p.Pro353Thr) GRCh37: Chr20:23029085 GRCh38: Chr20:23048448	THBD	P353T	not provided, Atypical hemolytic-uremic syndrome	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 17124636.	NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu) GRCh37: Chr1:196971678 GRCh38: Chr1:197002548	CFHR5	V405E	Atypical hemolytic-uremic syndrome	Uncertain significance (Dec 1, 2019)	criteria provided, single submitter
Select item 17124627.	NM_000064.4(C3):c.2485TTC[1] (p.Phe830del) GRCh37: Chr19:6697756-6697758 GRCh38: Chr19:6697745-6697747	C3	F830del	Atypical hemolytic-uremic syndrome	Uncertain significance (Feb 1, 2020)	criteria provided, single submitter
Select item 17124618.	NM_000186.4(CFH):c.47del (p.Cys16fs) GRCh37: Chr1:196621294 GRCh38: Chr1:196652164	CFH	C16fs	Atypical hemolytic-uremic syndrome	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 17124609.	NM_000186.4(CFH):c.2089C>T (p.Leu697Phe) GRCh37: Chr1:196695923 GRCh38: Chr1:196726793	CFH	L697F	Atypical hemolytic-uremic syndrome	Uncertain significance (Mar 1, 2020)	criteria provided, single submitter
Select item 171245910.	NM_172351.3(CD46):c.83del (p.Leu28fs) GRCh37: Chr1:207925640 GRCh38: Chr1:207752295	CD46, LOC129932405	L28fs	Atypical hemolytic-uremic syndrome	Likely pathogenic (Mar 1, 2020)	criteria provided, single submitter
Select item 171245711.	NM_030787.4(CFHR5):c.1106T>G (p.Val369Gly) GRCh37: Chr1:196967393 GRCh38: Chr1:196998263	CFHR5	V369G	Atypical hemolytic-uremic syndrome	Uncertain significance (Oct 9, 2020)	criteria provided, single submitter
Select item 171245612.	NM_001201550.3(CFHR4):c.128A>T (p.Tyr43Phe) GRCh37: Chr1:196871617 GRCh38: Chr1:196902487	CFHR4	Y42F, Y43F	Atypical hemolytic-uremic syndrome	Likely benign (Jan 5, 2021)	criteria provided, single submitter
Select item 171245513.	NM_000064.4(C3):c.1269+4C>A GRCh37: Chr19:6712264 GRCh38: Chr19:6712253	C3		Atypical hemolytic-uremic syndrome	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 171245414.	NM_000064.4(C3):c.522G>A (p.Pro174=) GRCh37: Chr19:6714440 GRCh38: Chr19:6714429	C3		not provided, Atypical hemolytic-uremic syndrome	Conflicting interpretations of pathogenicity (Jun 28, 2022)	criteria provided, conflicting interpretations
Select item 171245315.	NM_000204.5(CFI):c.1289T>C (p.Ile430Thr) GRCh37: Chr4:110667518 GRCh38: Chr4:109746362	CFI	I227T, I411T, I423T, I430T, I438T	Atypical hemolytic-uremic syndrome	Uncertain significance (Jun 18, 2021)	criteria provided, single submitter
Select item 171245216.	NM_000204.5(CFI):c.329-8del GRCh37: Chr4:110685854 GRCh38: Chr4:109764698	CFI		Atypical hemolytic-uremic syndrome	Likely benign (Jun 30, 2021)	criteria provided, single submitter
Select item 171245117.	NM_001710.6(CFB):c.981A>T (p.Ala327=) GRCh37: Chr6:31916234 GRCh38: Chr6:31948457	CFB		Atypical hemolytic-uremic syndrome	Uncertain significance (Jul 23, 2021)	criteria provided, single submitter
Select item 171245018.	NM_001710.6(CFB):c.978A>G (p.Glu326=) GRCh37: Chr6:31916231 GRCh38: Chr6:31948454	CFB		Atypical hemolytic-uremic syndrome	Uncertain significance (Jul 23, 2021)	criteria provided, single submitter
Select item 171244919.	NM_003647.3(DGKE):c.1206TAA[1] (p.Asn403del) GRCh37: Chr17:54933980-54933982 GRCh38: Chr17:56856619-56856621	DGKE	N403del	Atypical hemolytic-uremic syndrome	Uncertain significance (Jul 23, 2021)	criteria provided, single submitter
Select item 171244720.	NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val) GRCh37: Chr1:196971728 GRCh38: Chr1:197002598	CFHR5	L422V	Atypical hemolytic-uremic syndrome	Likely benign (Nov 3, 2021)	criteria provided, single submitter
Select item 171244621.	NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys) GRCh37: Chr1:196928188 GRCh38: Chr1:196959058	CFHR2	Y140C, Y199C, Y264C	Atypical hemolytic-uremic syndrome	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 171244522.	NM_000064.4(C3):c.1962C>T (p.Thr654=) GRCh37: Chr19:6707824 GRCh38: Chr19:6707813	C3		Atypical hemolytic-uremic syndrome	Uncertain significance (Mar 15, 2021)	criteria provided, single submitter
Select item 171244423.	NM_000204.5(CFI):c.11T>A (p.Leu4His) GRCh37: Chr4:110723117 GRCh38: Chr4:109801961	CFI	L4H	not provided, Atypical hemolytic-uremic syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171244324.	NM_005666.4(CFHR2):c.213G>A (p.Thr71=) GRCh37: Chr1:196918739 GRCh38: Chr1:196949609	CFHR2		Atypical hemolytic-uremic syndrome	Benign (Jul 8, 2022)	criteria provided, single submitter
Select item 171244225.	NM_005666.4(CFHR2):c.215G>A (p.Cys72Tyr) GRCh37: Chr1:196918741 GRCh38: Chr1:196949611	CFHR2	C72Y	Atypical hemolytic-uremic syndrome	Benign (Jul 8, 2022)	criteria provided, single submitter
Select item 171244126.	NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala) GRCh37: Chr1:196964922 GRCh38: Chr1:196995792	CFHR5	G228A	Inborn genetic diseases, Atypical hemolytic-uremic syndrome	Conflicting interpretations of pathogenicity (Mar 20, 2023)	criteria provided, conflicting interpretations
Select item 171243927.	NM_007366.5(PLA2R1):c.874A>G (p.Met292Val) GRCh37: Chr2:160885442 GRCh38: Chr2:160028931	PLA2R1	M292V	Atypical hemolytic-uremic syndrome	Benign (Oct 5, 2022)	criteria provided, single submitter
Select item 171243828.	NM_007366.5(PLA2R1):c.898C>G (p.His300Asp) GRCh37: Chr2:160885418 GRCh38: Chr2:160028907	PLA2R1	H300D	Atypical hemolytic-uremic syndrome	Benign (Oct 5, 2022)	criteria provided, single submitter
Select item 171243729.	NM_007366.5(PLA2R1):c.3316G>A (p.Gly1106Ser) GRCh37: Chr2:160808075 GRCh38: Chr2:159951564	PLA2R1	G1106S	Atypical hemolytic-uremic syndrome	Benign (Oct 5, 2022)	criteria provided, single submitter
Select item 171243430.	NM_000361.3(THBD):c.563C>G (p.Ala188Gly) GRCh37: Chr20:23029579 GRCh38: Chr20:23048942	THBD	A188G	Atypical hemolytic-uremic syndrome	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 171243331.	NM_000064.4(C3):c.268-4C>T GRCh37: Chr19:6718427 GRCh38: Chr19:6718416	C3		Atypical hemolytic-uremic syndrome	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 171243232.	NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro) GRCh37: Chr1:196964882 GRCh38: Chr1:196995752	CFHR5	S215P	Atypical hemolytic-uremic syndrome	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 171243133.	NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu) GRCh37: Chr1:196716391 GRCh38: Chr1:196747261	CFH	R1215L	Atypical hemolytic-uremic syndrome	Likely pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 169874134.	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 167424035.	NM_000064.4(C3):c.987C>T (p.Thr329=) GRCh37: Chr19:6713216 GRCh38: Chr19:6713205	C3		Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 166812036.	NM_000186.4(CFH):c.2783-3dup GRCh37: Chr1:196709736-196709737 GRCh38: Chr1:196740606-196740607	CFH		Atypical hemolytic-uremic syndrome, not provided	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163009237.	NM_000064.4(C3):c.683-4C>G GRCh37: Chr19:6714097 GRCh38: Chr19:6714086	C3		Atypical hemolytic-uremic syndrome, not provided, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 156383338.	NM_000186.4(CFH):c.2946A>G (p.Pro982=) GRCh37: Chr1:196709912 GRCh38: Chr1:196740782	CFH		not provided, Basal laminar drusen, Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Atypical hemolytic-uremic syndrome	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148210739.	NM_001710.6(CFB):c.507C>T (p.Gly169=) GRCh37: Chr6:31915147 GRCh38: Chr6:31947370	CFB		not provided, Atypical hemolytic-uremic syndrome	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 148151540.	NM_000204.5(CFI):c.193T>C (p.Tyr65His) GRCh37: Chr4:110687845 GRCh38: Chr4:109766689	CFI	Y65H	Factor I deficiency, not provided, Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome	Uncertain significance (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147122941.	NM_000204.5(CFI):c.377T>C (p.Ile126Thr) GRCh37: Chr4:110685798 GRCh38: Chr4:109764642	CFI	I126T	Atypical hemolytic-uremic syndrome, not provided, Inborn genetic diseases	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147119942.	NM_000204.5(CFI):c.1071T>G (p.Ile357Met) GRCh37: Chr4:110670451 GRCh38: Chr4:109749295	CFI	I338M, I357M, I154M, I350M, I365M	not provided, Atypical hemolytic-uremic syndrome	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 141331843.	NM_000204.5(CFI):c.338G>A (p.Ser113Asn) GRCh37: Chr4:110685837 GRCh38: Chr4:109764681	CFI	S113N	Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome, not provided	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141167244.	NM_000064.4(C3):c.3401G>A (p.Arg1134Gln) GRCh37: Chr19:6690728 GRCh38: Chr19:6690717	C3	R1134Q	Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, not provided, Atypical hemolytic-uremic syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137901245.	NM_000204.5(CFI):c.1063G>A (p.Val355Met) GRCh37: Chr4:110670459 GRCh38: Chr4:109749303	CFI	V336M, V355M, V363M, V348M, V152M	Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome, not provided	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136213846.	NM_000186.4(CFH):c.2675C>T (p.Ala892Val) GRCh37: Chr1:196706683 GRCh38: Chr1:196737553	CFH	A892V	not provided, Atypical hemolytic-uremic syndrome	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116860747.	NM_000186.4(CFH):c.245-11_245-9dup GRCh37: Chr1:196642969-196642970 GRCh38: Chr1:196673839-196673840	CFH		not provided, Atypical hemolytic-uremic syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116641448.	NM_000186.4(CFH):c.245-10_245-9dup GRCh37: Chr1:196642969-196642970 GRCh38: Chr1:196673839-196673840	CFH		not specified, not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency, Atypical hemolytic-uremic syndrome	Benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 116368349.	NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu) GRCh37: Chr1:196712674 GRCh38: Chr1:196743544	CFH	Q1076E	not provided, Atypical hemolytic-uremic syndrome	Uncertain significance (Feb 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106633450.	NM_000204.5(CFI):c.1429+1G>C GRCh37: Chr4:110667377 GRCh38: Chr4:109746221	CFI		not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency	Pathogenic/Likely pathogenic (Oct 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106329851.	NM_000064.4(C3):c.28C>A (p.Leu10Met) GRCh37: Chr19:6720573 GRCh38: Chr19:6720562	C3	L10M	not provided, Atypical hemolytic-uremic syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98824752.	NM_000064.4(C3):c.1678G>A (p.Val560Met) GRCh37: Chr19:6710658 GRCh38: Chr19:6710647	C3	V560M	Atypical hemolytic-uremic syndrome	Uncertain significance (Apr 2, 2019)	no assertion criteria provided
Select item 98824653.	NM_000064.4(C3):c.2642G>A (p.Arg881His) GRCh37: Chr19:6697509 GRCh38: Chr19:6697498	C3	R881H	not provided	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 98824554.	NM_172351.3(CD46):c.476-1G>A GRCh37: Chr1:207934593 GRCh38: Chr1:207761248	CD46		Atypical hemolytic-uremic syndrome	Pathogenic (Aug 28, 2018)	no assertion criteria provided
Select item 98824455.	NM_000064.4(C3):c.1999G>A (p.Ala667Thr) GRCh37: Chr19:6707525 GRCh38: Chr19:6707514	C3	A667T	Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98824356.	NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) GRCh37: Chr19:6690659 GRCh38: Chr19:6690648	C3	I1157T	Atypical hemolytic-uremic syndrome	Pathogenic (Sep 6, 2018)	no assertion criteria provided
Select item 98823957.	NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs) GRCh37: Chr2:217332716 GRCh38: Chr2:216467993	SMARCAL1	F731fs	Atypical hemolytic-uremic syndrome	Likely pathogenic (Oct 24, 2018)	no assertion criteria provided
Select item 98823858.	NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys) GRCh37: Chr2:217315692 GRCh38: Chr2:216450969	SMARCAL1	R659C	Schimke immuno-osseous dysplasia	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 98822759.	NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) GRCh37: Chr6:161157972 GRCh38: Chr6:160736940	PLG	G579R	Inborn genetic diseases, not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98822560.	NM_000204.5(CFI):c.292A>G (p.Thr98Ala) GRCh37: Chr4:110687746 GRCh38: Chr4:109766590	CFI	T98A	Atypical hemolytic-uremic syndrome	Uncertain significance (Aug 22, 2018)	no assertion criteria provided
Select item 98822461.	NM_000204.5(CFI):c.1268C>A (p.Ala423Glu) GRCh37: Chr4:110667539 GRCh38: Chr4:109746383	CFI	A220E, A404E, A416E, A423E, A431E	not provided	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 98822362.	NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup	CFHR5		Atypical hemolytic-uremic syndrome	Pathogenic (Aug 19, 2016)	no assertion criteria provided
Select item 98822263.	NM_030787.4(CFHR5):c.707A>G (p.Asp236Gly) GRCh37: Chr1:196964946 GRCh38: Chr1:196995816	CFHR5	D236G	Atypical hemolytic-uremic syndrome	Uncertain significance (Oct 25, 2018)	no assertion criteria provided
Select item 98822164.	NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) GRCh37: Chr1:196715034 GRCh38: Chr1:196745904	CFH	S1133*	Atypical hemolytic-uremic syndrome	Pathogenic (Jan 22, 2019)	no assertion criteria provided
Select item 98822065.	NM_000186.4(CFH):c.3647C>A (p.Thr1216Lys) GRCh37: Chr1:196716394 GRCh38: Chr1:196747264	CFH	T1216K	Atypical hemolytic-uremic syndrome	Uncertain significance (Feb 21, 2019)	no assertion criteria provided
Select item 98821966.	NM_000204.5(CFI):c.1006C>T (p.Arg336Ter) GRCh37: Chr4:110670693 GRCh38: Chr4:109749537	CFI	R133, R317, R329, R336, R344*	Atypical hemolytic-uremic syndrome	Likely pathogenic (Dec 20, 2018)	no assertion criteria provided
Select item 98821867.	NM_000186.4(CFH):c.1825G>A (p.Val609Ile) GRCh37: Chr1:196694379 GRCh38: Chr1:196725249	CFH	V609I	Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Basal laminar drusen, not provided	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98819568.	NM_000064.4(C3):c.4348A>C (p.Lys1450Gln) GRCh37: Chr19:6681954 GRCh38: Chr19:6681943	C3	K1450Q	Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 98818869.	NM_003647.3(DGKE):c.1A>T (p.Met1Leu) GRCh37: Chr17:54912157 GRCh38: Chr17:56834796	DGKE	M1L	Atypical hemolytic-uremic syndrome	Likely pathogenic (Apr 24, 2017)	no assertion criteria provided
Select item 98814670.	NM_000186.4(CFH):c.3530A>T (p.Tyr1177Phe) GRCh37: Chr1:196716277 GRCh38: Chr1:196747147	CFH	Y1177F	Atypical hemolytic-uremic syndrome	Uncertain significance (May 30, 2018)	no assertion criteria provided
Select item 98814571.	NM_000186.4(CFH):c.1574G>A (p.Trp525Ter) GRCh37: Chr1:196684777 GRCh38: Chr1:196715647	CFH	W525*	Atypical hemolytic-uremic syndrome	Pathogenic (May 29, 2018)	no assertion criteria provided
Select item 98814472.	NM_000186.4(CFH):c.3532A>T (p.Asn1178Tyr) GRCh37: Chr1:196716279 GRCh38: Chr1:196747149	CFH	N1178Y	Atypical hemolytic-uremic syndrome	Uncertain significance (Apr 17, 2018)	no assertion criteria provided
Select item 98814373.	NM_000186.4(CFH):c.3545G>A (p.Arg1182Lys) GRCh37: Chr1:196716292 GRCh38: Chr1:196747162	CFH	R1182K	Atypical hemolytic-uremic syndrome	Uncertain significance (Oct 24, 2018)	no assertion criteria provided
Select item 98814274.	NM_000186.4(CFH):c.2071T>C (p.Cys691Arg) GRCh37: Chr1:196695905 GRCh38: Chr1:196726775	CFH	C691R	Atypical hemolytic-uremic syndrome	Uncertain significance (Oct 26, 2017)	no assertion criteria provided
Select item 98814175.	NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser) GRCh37: Chr1:196716293 GRCh38: Chr1:196747163	CFH	R1182S	Atypical hemolytic-uremic syndrome	Likely pathogenic (Mar 16, 2014)	no assertion criteria provided
Select item 98814076.	NM_000186.4(CFH):c.3493+2T>C GRCh37: Chr1:196715131 GRCh38: Chr1:196746001	CFH		Atypical hemolytic-uremic syndrome	Pathogenic (Jul 6, 2015)	no assertion criteria provided
Select item 98813877.	NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln) GRCh37: Chr9:136307530 GRCh38: Chr9:133442409	ADAMTS13	R629Q, R660Q	not specified	Uncertain significance (Oct 17, 2023)	criteria provided, single submitter
Select item 98813778.	NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr) GRCh37: Chr9:136301991 GRCh38: Chr9:133436871	ADAMTS13	A420T, A451T	not provided, not specified	Uncertain significance (Oct 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98813279.	NM_000361.3(THBD):c.376G>T (p.Asp126Tyr) GRCh37: Chr20:23029766 GRCh38: Chr20:23049129	THBD	D126Y	Atypical hemolytic-uremic syndrome	Uncertain significance (Sep 13, 2019)	no assertion criteria provided
Select item 98813180.	NM_000361.3(THBD):c.763G>C (p.Ala255Pro) GRCh37: Chr20:23029379 GRCh38: Chr20:23048742	THBD	A255P	Atypical hemolytic-uremic syndrome	Uncertain significance (Jun 11, 2019)	no assertion criteria provided
Select item 98810681.	NM_172351.3(CD46):c.565T>G (p.Tyr189Asp) GRCh37: Chr1:207934683 GRCh38: Chr1:207761338	CD46	Y189D	not provided	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 98810582.	NM_172351.3(CD46):c.70A>G (p.Met24Val) GRCh37: Chr1:207925627 GRCh38: Chr1:207752282	CD46, LOC129932405	M24V	not provided	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 98810483.	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 87670384.	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 87571085.	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 87570886.	NM_172351.3(CD46):c.38C>T (p.Ser13Phe) GRCh37: Chr1:207925595 GRCh38: Chr1:207752250	CD46, LOC129932405	S13F	Atypical hemolytic-uremic syndrome, not provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87533787.	NM_000186.4(CFH):c.3134-5T>C GRCh37: Chr1:196712577 GRCh38: Chr1:196743447	CFH		Atypical hemolytic-uremic syndrome, Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Feb 1, 2020)	criteria provided, conflicting interpretations
Select item 87362688.	NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr) GRCh37: Chr1:196964885 GRCh38: Chr1:196995755	CFHR5	N216Y	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Atypical hemolytic-uremic syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87246589.	NM_000064.4(C3):c.26T>C (p.Leu9Pro) GRCh37: Chr19:6720575 GRCh38: Chr19:6720564	C3	L9P	Age related macular degeneration 9, Atypical hemolytic-uremic syndrome, not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 82999090.	NM_001710.6(CFB):c.1374G>A (p.Met458Ile) GRCh37: Chr6:31917300 GRCh38: Chr6:31949523	CFB	M458I	Age related macular degeneration 14, Complement factor b deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly, not provided, Atypical hemolytic-uremic syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78894691.	NM_001201550.3(CFHR4):c.228T>C (p.Asp76=) GRCh37: Chr1:196871717 GRCh38: Chr1:196902587	CFHR4		Atypical hemolytic-uremic syndrome, not provided, not specified	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 77563592.	NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) GRCh37: Chr1:196952092 GRCh38: Chr1:196982962	CFHR5	P46S	CFHR5 deficiency, Atypical hemolytic-uremic syndrome, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, not provided	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77428193.	NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala) GRCh37: Chr1:196744069 GRCh38: Chr1:196774939	CFHR3	G18A	Atypical hemolytic-uremic syndrome, not provided	Benign (Jul 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 71749994.	NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) GRCh37: Chr1:196977644 GRCh38: Chr1:197008514	CFHR5	M514R	not provided, Atypical hemolytic-uremic syndrome, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 71720895.	NM_000204.5(CFI):c.482+6C>A GRCh37: Chr4:110685687 GRCh38: Chr4:109764531	CFI		not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71475696.	NM_000064.4(C3):c.3970-8C>T GRCh37: Chr19:6684853 GRCh38: Chr19:6684842	C3		not provided, Atypical hemolytic-uremic syndrome	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71377297.	NM_030787.4(CFHR5):c.732C>T (p.Asn244=) GRCh37: Chr1:196964971 GRCh38: Chr1:196995841	CFHR5		not provided, Atypical hemolytic-uremic syndrome, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69711298.	NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) GRCh37: Chr3:132415614 GRCh38: Chr3:132696770	NPHP3, NPHP3-ACAD11	N711S	Nephronophthisis, Atypical hemolytic-uremic syndrome, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 63672699.	NM_000186.4(CFH):c.524G>C (p.Arg175Pro) GRCh37: Chr1:196646702 GRCh38: Chr1:196677572	CFH	R175P	not provided, Atypical hemolytic-uremic syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 635454100.	NM_003647.3(DGKE):c.610dup (p.Thr204fs) GRCh37: Chr17:54921518-54921519 GRCh38: Chr17:56844157-56844158	DGKE	T204fs	Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome	Pathogenic (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 3