ClinVar for MedGen (Select 412743) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377658	NM_000064.4(C3):c.3635C>T (p.Thr1212Ile)	C3 (T1212I)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3376721	NM_000186.4(CFH):c.320G>T (p.Gly107Val)	CFH (G107V)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3376720	NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)	CFH (R1215Q)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3256678	NM_000186.4(CFH):c.1159+4A>T	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3241995	NM_000186.4(CFH):c.3472dup (p.Ser1158fs)	CFH (S1158fs)	Duplication (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3237399	NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)	CFH (P1051L)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3236385	NM_000186.4(CFH):c.1609del (p.His537fs)	CFH (H537fs)	Deletion (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 3236204	NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)	CFH (C385F)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3236130	NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)	CFH (C564R)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 3236014	NM_000186.4(CFH):c.3104G>A (p.Ser1035Asn)	CFH (S1035N)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3234076	NM_000186.4(CFH):c.245-1G>C	CFH	Single nucleotide variant (splice acceptor variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 3066382	NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)	CFH (C870Y)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3066309	NM_000186.4(CFH):c.1520-2A>G	CFH	Single nucleotide variant (splice acceptor variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3066191	NM_000186.4(CFH):c.284C>A (p.Thr95Asn)	CFH (T95N)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3065621	NM_021023.6(CFHR3):c.952_953insGGAA (p.Val318fs)	CFHR3 (V257fs +1 more)	Insertion (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 2507420	NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)	CFH (L992*)	Single nucleotide variant (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 2500015	NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)	CFH (C1102W)	Single nucleotide variant (missense variant)	Basal laminar drusen +3 more	GUncertain significance
Select item 2429376	NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer)	CFH	Deletion (nonsense)	Factor H deficiency +1 more	GLikely pathogenic
Select item 2395414	NM_002113.3(CFHR1):c.208A>G (p.Ile70Val)	CFHR1 (I53V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2085426	NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)	CFH (P599T)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1962482	NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)	CFH (E677G)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1924857	NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)	CFH (R1040G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1712448	NM_000186.4(CFH):c.1617T>C (p.Gly539=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +5 more	GLikely benign
Select item 1712406	NM_000186.4(CFH):c.773C>T (p.Pro258Leu)	CFH (P258L)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GUncertain significance
Select item 1712373	NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)	CFH (H1165Y)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1693716	NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)	CFH (L1189F)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1693711	NM_000186.4(CFH):c.3160G>A (p.Val1054Ile)	CFH (V1054I)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1687284	NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg)	CFH (I1150R)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 1678086	NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)	CFHR1	Deletion (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1676855	NM_000186.4(CFH):c.1745G>A (p.Arg582His)	CFH (R582H)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1668120	NM_000186.4(CFH):c.2783-3dup	CFH	Duplication (intron variant)	Atypical hemolytic-uremic syndrome +6 more	GBenign/Likely benign
Select item 1642820	NM_000186.4(CFH):c.59-16T>C	CFH	Single nucleotide variant (intron variant)	Factor H deficiency +4 more	GLikely benign
Select item 1641398	NM_000186.4(CFH):c.2236+18A>G	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +4 more	GLikely benign
Select item 1630939	NM_000186.4(CFH):c.2957-15T>C	CFH	Single nucleotide variant (intron variant)	Basal laminar drusen +4 more	GLikely benign
Select item 1624660	NM_000186.4(CFH):c.906C>G (p.Thr302=)	CFH	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GLikely benign
Select item 1612016	NM_000186.4(CFH):c.350+15C>T	CFH	Single nucleotide variant (intron variant)	Basal laminar drusen +4 more	GBenign/Likely benign
Select item 1605005	NM_000186.4(CFH):c.2056+16T>C	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +4 more	GLikely benign
Select item 1600648	NM_000186.4(CFH):c.2821G>T (p.Val941Phe)	CFH (V941F)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GBenign/Likely benign
Select item 1591064	NM_000186.4(CFH):c.245-9del	CFH	Deletion (intron variant)	Age related macular degeneration 4 +4 more	GBenign/Likely benign
Select item 1588570	NM_000186.4(CFH):c.3045T>C (p.Thr1015=)	CFH	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1576560	NM_000186.4(CFH):c.807T>C (p.Asn269=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +4 more	GBenign/Likely benign
Select item 1563833	NM_000186.4(CFH):c.2946A>G (p.Pro982=)	CFH	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +5 more	GBenign/Likely benign
Select item 1553720	NM_000186.4(CFH):c.245-9dup	CFH	Duplication (intron variant)	Basal laminar drusen +4 more	GBenign/Likely benign
Select item 1547219	NM_000186.4(CFH):c.318T>C (p.Tyr106=)	CFH	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GLikely benign
Select item 1545559	NM_000186.4(CFH):c.2868G>A (p.Thr956=)	CFH	Single nucleotide variant (synonymous variant)	Factor H deficiency +4 more	GLikely benign
Select item 1519942	NM_000186.4(CFH):c.1998G>T (p.Lys666Asn)	CFH (K666N)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 1507675	NM_000186.4(CFH):c.1913A>G (p.Asn638Ser)	CFH (N638S)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1507082	NM_000186.4(CFH):c.1511C>T (p.Thr504Met)	CFH (T504M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1488054	NM_000186.4(CFH):c.2054T>C (p.Ile685Thr)	CFH (I685T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1450348	NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)	CFH (E625*)	Single nucleotide variant (nonsense)	Factor H deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1445785	NM_000186.4(CFH):c.2047G>A (p.Val683Met)	CFH (V683M)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GUncertain significance
Select item 1431503	NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)	CFH (R830W)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 1430842	NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)	CFH (I1120F)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 1417726	NM_000186.4(CFH):c.213G>A (p.Trp71Ter)	CFH (W71*)	Single nucleotide variant (nonsense)	Factor H deficiency +5 more	GPathogenic/Likely pathogenic
Select item 1416545	NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)	CFH (T724K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1415337	NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly)	CFH (R1044G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1413155	NM_000186.4(CFH):c.1697-3A>C	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1403152	NM_000186.4(CFH):c.476G>A (p.Ser159Asn)	CFH (S159N)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1403151	NM_000186.4(CFH):c.332T>A (p.Val111Glu)	CFH (V111E)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1399205	NM_000186.4(CFH):c.1922T>C (p.Val641Ala)	CFH (V641A)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1399204	NM_000186.4(CFH):c.889G>A (p.Gly297Ser)	CFH (G297S)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1398643	NM_000186.4(CFH):c.2195C>T (p.Thr732Met)	CFH (T732M)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 1397127	NM_000186.4(CFH):c.2416G>T (p.Ala806Ser)	CFH (A806S)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 1393028	NM_000186.4(CFH):c.1474A>G (p.Ile492Val)	CFH (I492V)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1365901	NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)	CFH (N819S)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1364285	NM_000186.4(CFH):c.497G>T (p.Arg166Leu)	CFH (R166L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1362138	NM_000186.4(CFH):c.2675C>T (p.Ala892Val)	CFH (A892V)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 1358876	NM_000186.4(CFH):c.526T>C (p.Phe176Leu)	CFH (F176L)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1355886	NM_000186.4(CFH):c.100A>T (p.Thr34Ser)	CFH (T34S)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 1355349	NM_000186.4(CFH):c.565G>A (p.Glu189Lys)	CFH (E189K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1349410	NM_000186.4(CFH):c.1744C>T (p.Arg582Cys)	CFH (R582C)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1343368	NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser)	CFHR1 (L209S +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1342904	NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys)	CFH (R1206C)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 1338097	NM_000186.4(CFH):c.2427A>G (p.Gln809=)	CFH	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 1333410	NM_000186.4(CFH):c.672G>T (p.Lys224Asn)	CFH (K224N)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1319495	NM_000186.4(CFH):c.1934C>T (p.Thr645Met)	CFH (T645M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1303615	NM_000186.4(CFH):c.2072G>C (p.Cys691Ser)	CFH (C691S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1284610	NM_000186.4(CFH):c.3150T>C (p.Asn1050=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +6 more	GBenign/Likely benign
Select item 1284542	NM_000186.4(CFH):c.1159+19T>G	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +4 more	GBenign
Select item 1275822	NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)	CFH (I453L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with I factor anomaly +4 more	GUncertain significance
Select item 1209735	NM_000186.4(CFH):c.59-36C>T	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +4 more	GBenign
Select item 1168607	NM_000186.4(CFH):c.245-11_245-9dup	CFH	Duplication (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1166414	NM_000186.4(CFH):c.245-10_245-9dup	CFH	Duplication (intron variant)	Factor H deficiency +6 more	GBenign
Select item 1163768	NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)	CFHR3 (I219fs +1 more)	Deletion (frameshift variant)	not specified +3 more	GUncertain significance
Select item 1163683	NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)	CFH (Q1076E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +5 more	GUncertain significance
Select item 1163680	NM_000186.4(CFH):c.2753G>A (p.Gly918Glu)	CFH (G918E)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 1163676	NM_000186.4(CFH):c.1864A>G (p.Ile622Val)	CFH (I622V)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1162889	NM_000186.4(CFH):c.1111C>A (p.His371Asn)	CFH (H371N)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1162887	NM_000186.4(CFH):c.764G>A (p.Gly255Glu)	CFH (G255E)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1162883	NM_000186.4(CFH):c.122C>T (p.Thr41Ile)	CFH (T41I)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1133698	NM_000186.4(CFH):c.245-17T>A	CFH	Single nucleotide variant (intron variant)	Basal laminar drusen +4 more	GLikely benign
Select item 1130653	NM_000186.4(CFH):c.849A>G (p.Lys283=)	CFH	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1111430	NM_000186.4(CFH):c.964+18C>A	CFH	Single nucleotide variant (intron variant)	Basal laminar drusen +4 more	GLikely benign
Select item 1080080	NM_000186.4(CFH):c.1935G>A (p.Thr645=)	CFH	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1068249	NM_000186.4(CFH):c.157C>T (p.Arg53Cys)	CFH (R53C)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1057798	NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro)	CFH (A1027P)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1037628	NM_000186.4(CFH):c.727T>C (p.Tyr243His)	CFH (Y243H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1032244	NM_000186.4(CFH):c.506A>G (p.His169Arg)	CFH (H169R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1032243	NM_000186.4(CFH):c.497G>A (p.Arg166Gln)	CFH (R166Q)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1032242	NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu)	CFH (D1119E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

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