ClinVar for MedGen (Select 96024) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2441817	NM_000186.4(CFH):c.1820del (p.Asn607fs)	CFH (N607fs)	Deletion (frameshift variant)	Factor H deficiency	GPathogenic
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 2085426	NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)	CFH (P599T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1962482	NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)	CFH (E677G)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1924857	NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)	CFH (R1040G)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GUncertain significance
Select item 1712448	NM_000186.4(CFH):c.1617T>C (p.Gly539=)	CFH	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GLikely benign
Select item 1712406	NM_000186.4(CFH):c.773C>T (p.Pro258Leu)	CFH (P258L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1712373	NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)	CFH (H1165Y)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1705412	NM_000186.4(CFH):c.1031A>G (p.Tyr344Cys)	CFH (Y344C)	Single nucleotide variant (missense variant)	Factor H deficiency	GUncertain significance
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 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)	Age related macular degeneration 4 +5 more	GBenign/Likely benign
Select item 1642820	NM_000186.4(CFH):c.59-16T>C	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GLikely benign
Select item 1641398	NM_000186.4(CFH):c.2236+18A>G	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +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)	Factor H deficiency +4 more	GLikely benign
Select item 1612016	NM_000186.4(CFH):c.350+15C>T	CFH	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1605005	NM_000186.4(CFH):c.2056+16T>C	CFH	Single nucleotide variant (intron variant)	Basal laminar drusen +4 more	GLikely benign
Select item 1600648	NM_000186.4(CFH):c.2821G>T (p.Val941Phe)	CFH (V941F)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 1591064	NM_000186.4(CFH):c.245-9del	CFH	Deletion (intron variant)	Basal laminar drusen +4 more	GBenign/Likely benign
Select item 1588570	NM_000186.4(CFH):c.3045T>C (p.Thr1015=)	CFH	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 1576560	NM_000186.4(CFH):c.807T>C (p.Asn269=)	CFH	Single nucleotide variant (synonymous variant)	Factor H deficiency +4 more	GBenign/Likely benign
Select item 1563833	NM_000186.4(CFH):c.2946A>G (p.Pro982=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +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)	not provided +4 more	GUncertain significance
Select item 1507675	NM_000186.4(CFH):c.1913A>G (p.Asn638Ser)	CFH (N638S)	Single nucleotide variant (missense variant)	not provided +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)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1450348	NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)	CFH (E625*)	Single nucleotide variant (nonsense)	Basal laminar drusen +4 more	GPathogenic/Likely pathogenic
Select item 1445785	NM_000186.4(CFH):c.2047G>A (p.Val683Met)	CFH (V683M)	Single nucleotide variant (missense variant)	CFH-related disorder +5 more	GUncertain significance
Select item 1431503	NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)	CFH (R830W)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1430842	NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)	CFH (I1120F)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1417726	NM_000186.4(CFH):c.213G>A (p.Trp71Ter)	CFH (W71*)	Single nucleotide variant (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +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)	Age related macular degeneration 4 +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)	Factor H deficiency +4 more	GUncertain significance
Select item 1403151	NM_000186.4(CFH):c.332T>A (p.Val111Glu)	CFH (V111E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1399205	NM_000186.4(CFH):c.1922T>C (p.Val641Ala)	CFH (V641A)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1399204	NM_000186.4(CFH):c.889G>A (p.Gly297Ser)	CFH (G297S)	Single nucleotide variant (missense variant)	Factor H deficiency +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)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1393028	NM_000186.4(CFH):c.1474A>G (p.Ile492Val)	CFH (I492V)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1365901	NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)	CFH (N819S)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 1364285	NM_000186.4(CFH):c.497G>T (p.Arg166Leu)	CFH (R166L)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 1362138	NM_000186.4(CFH):c.2675C>T (p.Ala892Val)	CFH (A892V)	Single nucleotide variant (missense variant)	Basal laminar drusen +5 more	GUncertain significance
Select item 1358876	NM_000186.4(CFH):c.526T>C (p.Phe176Leu)	CFH (F176L)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1355886	NM_000186.4(CFH):c.100A>T (p.Thr34Ser)	CFH (T34S)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1355349	NM_000186.4(CFH):c.565G>A (p.Glu189Lys)	CFH (E189K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1349410	NM_000186.4(CFH):c.1744C>T (p.Arg582Cys)	CFH (R582C)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1338097	NM_000186.4(CFH):c.2427A>G (p.Gln809=)	CFH	Single nucleotide variant (synonymous variant)	not provided +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)	Inborn genetic diseases +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)	Basal laminar drusen +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)	not provided +4 more	GBenign
Select item 1175202	NM_000186.4(CFH):c.3548G>T (p.Trp1183Leu)	CFH (W1183L)	Single nucleotide variant (missense variant)	Factor H deficiency	GLikely pathogenic
Select item 1168607	NM_000186.4(CFH):c.245-11_245-9dup	CFH	Duplication (intron variant)	Age related macular degeneration 4 +5 more	GBenign/Likely benign
Select item 1166414	NM_000186.4(CFH):c.245-10_245-9dup	CFH	Duplication (intron variant)	not specified +6 more	GBenign
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)	not provided +5 more	GUncertain significance
Select item 1163676	NM_000186.4(CFH):c.1864A>G (p.Ile622Val)	CFH (I622V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1162889	NM_000186.4(CFH):c.1111C>A (p.His371Asn)	CFH (H371N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1162887	NM_000186.4(CFH):c.764G>A (p.Gly255Glu)	CFH (G255E)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1162886	NM_000186.4(CFH):c.694C>T (p.Arg232Ter)	CFH (R232*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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)	Age related macular degeneration 4 +4 more	GLikely benign
Select item 1130653	NM_000186.4(CFH):c.849A>G (p.Lys283=)	CFH	Single nucleotide variant (synonymous variant)	Basal laminar drusen +4 more	GLikely benign
Select item 1111430	NM_000186.4(CFH):c.964+18C>A	CFH	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 1080080	NM_000186.4(CFH):c.1935G>A (p.Thr645=)	CFH	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1068249	NM_000186.4(CFH):c.157C>T (p.Arg53Cys)	CFH (R53C)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GPathogenic/Likely pathogenic
Select item 1057798	NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro)	CFH (A1027P)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1037628	NM_000186.4(CFH):c.727T>C (p.Tyr243His)	CFH (Y243H)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1032244	NM_000186.4(CFH):c.506A>G (p.His169Arg)	CFH (H169R)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +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)	Basal laminar drusen +4 more	GUncertain significance
Select item 1030653	NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr)	CFH (A1057T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1023318	NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)	CFH (F717L)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1011109	NM_000186.4(CFH):c.647T>C (p.Ile216Thr)	CFH (I216T)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 1008944	NM_000186.4(CFH):c.472G>A (p.Val158Ile)	CFH (V158I)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1006921	NM_000186.4(CFH):c.1198C>A (p.Gln400Lys)	CFH (Q400K)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 988218	NM_000186.4(CFH):c.1825G>A (p.Val609Ile)	CFH (V609I)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 876852	NM_000186.4(CFH):c.33G>T (p.Met11Ile)	CFH (M11I)	Single nucleotide variant (missense variant)	Factor H deficiency +5 more	GUncertain significance
Select item 875857	NM_000186.4(CFH):c.7C>G (p.Leu3Val)	CFH (L3V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 874263	NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)	CFH (I760L)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 871210	NM_000186.4(CFH):c.1612G>C (p.Asp538His)	CFH (D538H)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 830004	NM_000186.4(CFH):c.1699A>G (p.Arg567Gly)	CFH (R567G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 829889	NM_000186.4(CFH):c.2900G>A (p.Gly967Glu)	CFH (G967E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 799362	NM_000186.4(CFH):c.3318A>G (p.Thr1106=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +4 more	GLikely benign
Select item 799361	NM_000186.4(CFH):c.2236+10C>G	CFH	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 758181	NM_000186.4(CFH):c.2085T>A (p.Pro695=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +4 more	GLikely benign
Select item 722920	NM_000186.4(CFH):c.1707C>T (p.Cys569=)	CFH	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 710193	NM_000186.4(CFH):c.245-8C>T	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +4 more	GLikely benign
Select item 636910	NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp)	CFH (G1194D)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 636726	NM_000186.4(CFH):c.524G>C (p.Arg175Pro)	CFH (R175P)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance

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