ClinVar for MedGen (Select 414542) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25774241.	NM_000204.5(CFI):c.1149-1G>A GRCh37: Chr4:110667659 GRCh38: Chr4:109746503	CFI		Atypical hemolytic-uremic syndrome with I factor anomaly	Pathogenic (Jul 4, 2023)	no assertion criteria provided
Select item 25007822.	NC_000001.11:g.196706898_196873196del GRCh38: Chr1:196706898-196873196	CFH, LOC126805964, CFHR1, CFHR3		Atypical hemolytic-uremic syndrome with I factor anomaly	Pathogenic	criteria provided, single submitter
Select item 16653723.	NM_000204.5(CFI):c.546A>G (p.Leu182=) GRCh37: Chr4:110682785 GRCh38: Chr4:109761629	CFI		Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, not provided	Likely benign (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16565704.	NM_000204.5(CFI):c.1430-19G>A GRCh37: Chr4:110663770 GRCh38: Chr4:109742614	CFI		not provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16342515.	NM_000204.5(CFI):c.12T>A (p.Leu4=) GRCh37: Chr4:110723116 GRCh38: Chr4:109801960	CFI		not provided, Factor I deficiency, Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16283776.	NM_000204.5(CFI):c.729T>A (p.Gly243=) GRCh37: Chr4:110681722 GRCh38: Chr4:109760566	CFI		Factor I deficiency, Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Likely benign (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15971667.	NM_000204.5(CFI):c.192G>C (p.Pro64=) GRCh37: Chr4:110687846 GRCh38: Chr4:109766690	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Likely benign (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 15927308.	NM_000204.5(CFI):c.705T>C (p.Ile235=) GRCh37: Chr4:110681746 GRCh38: Chr4:109760590	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Likely benign (Feb 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15768949.	NM_000204.5(CFI):c.1656A>G (p.Lys552=) GRCh37: Chr4:110662145 GRCh38: Chr4:109740989	CFI		Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, not provided	Likely benign (Feb 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157432610.	NM_000204.5(CFI):c.429C>T (p.Ser143=) GRCh37: Chr4:110685746 GRCh38: Chr4:109764590	CFI		not provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153351711.	NM_000204.5(CFI):c.482+7G>A GRCh37: Chr4:110685686 GRCh38: Chr4:109764530	CFI		Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, not provided	Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151502812.	NM_000204.5(CFI):c.530A>T (p.Asn177Ile) GRCh37: Chr4:110682801 GRCh38: Chr4:109761645	CFI	N177I	not provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148927513.	NM_000204.5(CFI):c.662C>A (p.Ser221Tyr) GRCh37: Chr4:110681789 GRCh38: Chr4:109760633	CFI	S18Y, S221Y	Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Uncertain significance (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148151514.	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 148144515.	NM_000204.5(CFI):c.1150G>A (p.Ala384Thr) GRCh37: Chr4:110667657 GRCh38: Chr4:109746501	CFI	A365T, A377T, A384T, A181T, A392T	not provided, Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145129516.	NM_000204.5(CFI):c.772G>A (p.Ala258Thr) GRCh37: Chr4:110681679 GRCh38: Chr4:109760523	CFI	A258T, A55T	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Pathogenic/Likely pathogenic (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142630017.	NM_000204.5(CFI):c.1399T>C (p.Cys467Arg) GRCh37: Chr4:110667408 GRCh38: Chr4:109746252	CFI	C460R, C475R, C264R, C448R, C467R	Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency, not provided	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141331818.	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 140919719.	NM_000204.5(CFI):c.848A>G (p.Asp283Gly) GRCh37: Chr4:110681461 GRCh38: Chr4:109760305	CFI	D283G, D80G	Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140466720.	NM_000204.5(CFI):c.130G>A (p.Asp44Asn) GRCh37: Chr4:110687908 GRCh38: Chr4:109766752	CFI	D44N	Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140345721.	NM_000204.5(CFI):c.601A>G (p.Arg201Gly) GRCh37: Chr4:110682730 GRCh38: Chr4:109761574	CFI	R201G	Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139931922.	NM_000204.5(CFI):c.1016G>A (p.Arg339Gln) GRCh37: Chr4:110670683 GRCh38: Chr4:109749527	CFI	R339Q, R347Q, R136Q, R320Q, R332Q	not provided, Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137901223.	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 136821224.	NM_000204.5(CFI):c.325G>A (p.Glu109Lys) GRCh37: Chr4:110687713 GRCh38: Chr4:109766557	CFI	E109K	Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136766125.	NM_000204.5(CFI):c.1479C>A (p.Ser493Arg) GRCh37: Chr4:110663702 GRCh38: Chr4:109742546	CFI	S290R, S474R, S486R, S501R, S493R	Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency, not provided	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136330726.	NM_000204.5(CFI):c.280C>T (p.Leu94Phe) GRCh37: Chr4:110687758 GRCh38: Chr4:109766602	CFI	L94F	Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136182627.	NM_000204.5(CFI):c.439A>G (p.Met147Val) GRCh37: Chr4:110685736 GRCh38: Chr4:109764580	CFI	M147V	Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135601528.	NM_000204.5(CFI):c.1216C>T (p.Arg406Cys) GRCh37: Chr4:110667591 GRCh38: Chr4:109746435	CFI	R203C, R399C, R414C, R406C, R387C	not provided, Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135428329.	NM_000204.5(CFI):c.1291G>T (p.Ala431Ser) GRCh37: Chr4:110667516 GRCh38: Chr4:109746360	CFI	A424S, A431S, A228S, A412S, A439S	Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131245930.	NM_000204.5(CFI):c.773-3C>T GRCh37: Chr4:110681539 GRCh38: Chr4:109760383	CFI		not provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127582231.	NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) GRCh37: Chr1:196682885 GRCh38: Chr1:196713755	CFH	I453L	Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 127582132.	NM_000186.4(CFH):c.1114A>G (p.Ile372Val) GRCh37: Chr1:196658699 GRCh38: Chr1:196689569	CFH	I372V	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jun 15, 2015)	criteria provided, single submitter
Select item 117905333.	NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) GRCh37: Chr4:110662163 GRCh38: Chr4:109741007	CFI	W343, W527, W539, W546, W554*	Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 117903134.	NM_000204.5(CFI):c.763_772+9delinsGTATCCAC GRCh37: Chr4:110681670-110681688 GRCh38: Chr4:109760514-109760532	CFI		Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13	Pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 117742635.	NM_000204.5(CFI):c.941-10T>C GRCh37: Chr4:110670768 GRCh38: Chr4:109749612	CFI		Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 4, 2021)	criteria provided, single submitter
Select item 116642936.	NM_000204.5(CFI):c.329-14dup GRCh37: Chr4:110685853-110685854 GRCh38: Chr4:109764697-109764698	CFI		Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, not provided	Benign/Likely benign (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106633437.	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 102861038.	NM_000204.5(CFI):c.227C>G (p.Ala76Gly) GRCh37: Chr4:110687811 GRCh38: Chr4:109766655	CFI	A76G	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100665839.	NM_000204.5(CFI):c.1533A>G (p.Ala511=) GRCh37: Chr4:110663648 GRCh38: Chr4:109742492	CFI		Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Uncertain significance (Feb 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90364840.	NM_000204.5(CFI):c.719C>G (p.Ala240Gly) GRCh37: Chr4:110681732 GRCh38: Chr4:109760576	CFI	A240G, A37G	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 90320041.	NM_000204.5(CFI):c.373G>C (p.Gly125Arg) GRCh37: Chr4:110685802 GRCh38: Chr4:109764646	CFI	G125R	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90319942.	NM_000204.5(CFI):c.424A>C (p.Lys142Gln) GRCh37: Chr4:110685751 GRCh38: Chr4:109764595	CFI	K142Q	Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency	Uncertain significance (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90233843.	NM_000204.5(CFI):c.560G>A (p.Arg187Gln) GRCh37: Chr4:110682771 GRCh38: Chr4:109761615	CFI	R187Q	Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 90233744.	NM_000204.5(CFI):c.603A>C (p.Arg201Ser) GRCh37: Chr4:110682728 GRCh38: Chr4:109761572	CFI	R201S	Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Benign/Likely benign (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90233645.	NM_000204.5(CFI):c.781G>A (p.Gly261Ser) GRCh37: Chr4:110681528 GRCh38: Chr4:109760372	CFI	G58S, G261S	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90073146.	NM_000204.4(CFI):c.-171G>A GRCh37: Chr4:110723298 GRCh38: Chr4:109802142	CFI		Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90065647.	NM_000204.5(CFI):c.950G>A (p.Arg317Gln) GRCh37: Chr4:110670749 GRCh38: Chr4:109749593	CFI	R317Q, R298Q, R325Q, R114Q, R310Q	Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89959548.	NM_000204.5(CFI):c.1A>G (p.Met1Val) GRCh37: Chr4:110723127 GRCh38: Chr4:109801971	CFI	M1V	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89959449.	NM_000204.5(CFI):c.57+4A>G GRCh37: Chr4:110723067 GRCh38: Chr4:109801911	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Conflicting interpretations of pathogenicity (May 17, 2022)	criteria provided, conflicting interpretations
Select item 89959350.	NM_000204.5(CFI):c.57+9T>C GRCh37: Chr4:110723062 GRCh38: Chr4:109801906	CFI		Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89959251.	NM_000204.5(CFI):c.60C>T (p.Val20=) GRCh37: Chr4:110687978 GRCh38: Chr4:109766822	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Conflicting interpretations of pathogenicity (Mar 19, 2022)	criteria provided, conflicting interpretations
Select item 89959152.	NM_000204.5(CFI):c.91A>C (p.Lys31Gln) GRCh37: Chr4:110687947 GRCh38: Chr4:109766791	CFI	K31Q	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89959053.	NM_000204.5(CFI):c.148C>G (p.Pro50Ala) GRCh37: Chr4:110687890 GRCh38: Chr4:109766734	CFI	P50A	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82998954.	NM_000204.5(CFI):c.1160C>T (p.Thr387Ile) GRCh37: Chr4:110667647 GRCh38: Chr4:109746491	CFI	T184I, T368I, T395I, T387I, T380I	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jul 2, 2019)	no assertion criteria provided
Select item 82998855.	NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) GRCh37: Chr4:110670404 GRCh38: Chr4:109749248	CFI	C373S, C170S, C354S, C366S, C381S	Atypical hemolytic-uremic syndrome with I factor anomaly	Likely pathogenic (Jul 2, 2019)	no assertion criteria provided
Select item 82995156.	NM_000204.5(CFI):c.1355C>A (p.Ala452Asp) GRCh37: Chr4:110667452 GRCh38: Chr4:109746296	CFI	A249D, A433D, A445D, A460D, A452D	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Apr 26, 2019)	no assertion criteria provided
Select item 82989457.	NM_000204.5(CFI):c.850T>G (p.Cys284Gly) GRCh37: Chr4:110681459 GRCh38: Chr4:109760303	CFI	C284G, C81G	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Sep 6, 2019)	no assertion criteria provided
Select item 82986258.	NM_000204.5(CFI):c.184A>G (p.Lys62Glu) GRCh37: Chr4:110687854 GRCh38: Chr4:109766698	CFI	K62E	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jun 5, 2019)	no assertion criteria provided
Select item 74886159.	NM_000204.5(CFI):c.1378C>T (p.Leu460=) GRCh37: Chr4:110667429 GRCh38: Chr4:109746273	CFI		Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, not provided	Likely benign (Oct 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 71720860.	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 63545261.	NM_000204.5(CFI):c.209A>C (p.Asn70Thr) GRCh37: Chr4:110687829 GRCh38: Chr4:109766673	CFI	N70T	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63543262.	NM_000204.5(CFI):c.1165C>T (p.Arg389Cys) GRCh37: Chr4:110667642 GRCh38: Chr4:109746486	CFI	R389C, R382C, R397C, R186C, R370C	Atypical hemolytic-uremic syndrome with I factor anomaly	Likely pathogenic (Sep 28, 2018)	no assertion criteria provided
Select item 63193463.	NM_000204.5(CFI):c.559C>T (p.Arg187Ter) GRCh37: Chr4:110682772 GRCh38: Chr4:109761616	CFI	R187*	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62591764.	NM_000204.5(CFI):c.1532C>T (p.Ala511Val) GRCh37: Chr4:110663649 GRCh38: Chr4:109742493	CFI	A511V, A519V, A504V, A308V, A492V	Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency, not provided, Afibrinogenemia, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13	Uncertain significance (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59909165.	NM_000204.5(CFI):c.205A>G (p.Lys69Glu) GRCh37: Chr4:110687833 GRCh38: Chr4:109766677	CFI	K69E	Inborn genetic diseases, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency, not provided	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52248066.	NM_000204.5(CFI):c.310G>A (p.Gly104Arg) GRCh37: Chr4:110687728 GRCh38: Chr4:109766572	CFI	G104R	Atypical hemolytic-uremic syndrome with I factor anomaly	Likely pathogenic (Sep 18, 2017)	no assertion criteria provided
Select item 45253567.	NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) GRCh37: Chr4:110667574 GRCh38: Chr4:109746418	CFI	Y411, Y404, Y419, Y208, Y392*	Factor I deficiency, not provided, Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly	Likely pathogenic (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43868668.	NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) GRCh37: Chr4:110662092 GRCh38: Chr4:109740936	CFI	S570T, S563T, S578T, S367T, S551T	Atypical hemolytic-uremic syndrome with I factor anomaly, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency	Uncertain significance (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42017669.	NM_000204.5(CFI):c.454G>A (p.Val152Met) GRCh37: Chr4:110685721 GRCh38: Chr4:109764565	CFI	V152M	Atypical hemolytic-uremic syndrome with I factor anomaly, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36943470.	NM_001375278.1(CFI):c.1558+1812A>G GRCh37: Chr4:110661835 GRCh38: Chr4:109740679	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Benign (Nov 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34717871.	NM_000204.4(CFI):c.-98T>C GRCh37: Chr4:110723225 GRCh38: Chr4:109802069	CFI		Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34717772.	NM_000204.5(CFI):c.-13G>A GRCh37: Chr4:110723140 GRCh38: Chr4:109801984	CFI		Atypical hemolytic-uremic syndrome with I factor anomaly	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34717673.	NM_000204.5(CFI):c.129C>T (p.Cys43=) GRCh37: Chr4:110687909 GRCh38: Chr4:109766753	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Likely benign (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34717574.	NM_000204.5(CFI):c.309C>T (p.Asn103=) GRCh37: Chr4:110687729 GRCh38: Chr4:109766573	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Likely benign (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34717475.	NM_000204.5(CFI):c.315A>T (p.Thr105=) GRCh37: Chr4:110687723 GRCh38: Chr4:109766567	CFI		not specified, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34717376.	NM_000204.5(CFI):c.319A>G (p.Thr107Ala) GRCh37: Chr4:110687719 GRCh38: Chr4:109766563	CFI	T107A	Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Benign/Likely benign (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34717277.	NM_000204.5(CFI):c.405T>C (p.Asp135=) GRCh37: Chr4:110685770 GRCh38: Chr4:109764614	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Benign/Likely benign (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34717178.	NM_000204.5(CFI):c.482+6C>T GRCh37: Chr4:110685687 GRCh38: Chr4:109764531	CFI		not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34717079.	NM_000204.5(CFI):c.482+14T>A GRCh37: Chr4:110685679 GRCh38: Chr4:109764523	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34716980.	NM_000204.5(CFI):c.540A>G (p.Glu180=) GRCh37: Chr4:110682791 GRCh38: Chr4:109761635	CFI		Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Likely benign (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34716881.	NM_000204.5(CFI):c.608C>T (p.Thr203Ile) GRCh37: Chr4:110682723 GRCh38: Chr4:109761567	CFI	T203I	not specified, not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 34716782.	NM_000204.5(CFI):c.804G>A (p.Ser268=) GRCh37: Chr4:110681505 GRCh38: Chr4:109760349	CFI		not specified, not provided, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34716583.	NM_000204.5(CFI):c.884-7T>C GRCh37: Chr4:110678946 GRCh38: Chr4:109757790	CFI		not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly	Benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34716484.	NM_000204.5(CFI):c.905-3T>C GRCh37: Chr4:110673662 GRCh38: Chr4:109752506	CFI		not specified, not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 34716385.	NM_000204.5(CFI):c.916A>G (p.Ile306Val) GRCh37: Chr4:110673648 GRCh38: Chr4:109752492	CFI	I306V, I314V, I299V, I103V	not specified, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34716286.	NM_000204.5(CFI):c.1044+8C>T GRCh37: Chr4:110670647 GRCh38: Chr4:109749491	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Benign/Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34716187.	NM_000204.5(CFI):c.1044+9G>A GRCh37: Chr4:110670646 GRCh38: Chr4:109749490	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 34716088.	NM_000204.5(CFI):c.1112G>T (p.Gly371Val) GRCh37: Chr4:110670410 GRCh38: Chr4:109749254	CFI	G371V, G379V, G364V, G168V, G352V	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34715989.	NM_000204.5(CFI):c.1206C>T (p.Pro402=) GRCh37: Chr4:110667601 GRCh38: Chr4:109746445	CFI		Kidney disorder, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34715890.	NM_000204.5(CFI):c.1217G>A (p.Arg406His) GRCh37: Chr4:110667590 GRCh38: Chr4:109746434	CFI	R406H, R399H, R414H, R203H, R387H	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Focal segmental glomerulosclerosis	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34715791.	NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) GRCh37: Chr4:110667561 GRCh38: Chr4:109746405	CFI	I416L, I424L, I409L, I213L, I397L	not specified, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 34715692.	NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) GRCh37: Chr4:110667485 GRCh38: Chr4:109746329	CFI	K441R, K434R, K449R, K238R, K422R	Inborn genetic diseases, not specified, not provided, Atypical hemolytic-uremic syndrome, Thrombotic microangiopathy, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 34715593.	NM_000204.5(CFI):c.1381T>C (p.Phe461Leu) GRCh37: Chr4:110667426 GRCh38: Chr4:109746270	CFI	F461L, F454L, F469L, F258L, F442L	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34715494.	NM_000204.5(CFI):c.1410T>C (p.Ser470=) GRCh37: Chr4:110667397 GRCh38: Chr4:109746241	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34715395.	NM_000204.5(CFI):c.1429G>C (p.Asp477His) GRCh37: Chr4:110667378 GRCh38: Chr4:109746222	CFI	D477H, D485H, D470H, D274H, D458H	not provided, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34715296.	NM_000204.5(CFI):c.1429+5A>G GRCh37: Chr4:110667373 GRCh38: Chr4:109746217	CFI		Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34715197.	NM_000204.5(CFI):c.1429+8T>C GRCh37: Chr4:110667370 GRCh38: Chr4:109746214	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Benign/Likely benign (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34715098.	NM_000204.5(CFI):c.1443C>T (p.Val481=) GRCh37: Chr4:110663738 GRCh38: Chr4:109742582	CFI		not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34714999.	NM_000204.5(CFI):c.1516A>C (p.Lys506Gln) GRCh37: Chr4:110663665 GRCh38: Chr4:109742509	CFI	K506Q, K499Q, K514Q, K303Q, K487Q	Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 347148100.	NM_000204.5(CFI):c.1581C>T (p.Gly527=) GRCh37: Chr4:110662220 GRCh38: Chr4:109741064	CFI		Kidney disorder, not provided, Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts

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