"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CFH"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 1553720	NM_000186.4(CFH):c.245-9dup	CFH	Duplication (intron variant)	Basal laminar drusen +4 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 1591064	NM_000186.4(CFH):c.245-9del	CFH	Deletion (intron variant)	Age related macular degeneration 4 +4 more	GBenign/Likely benign
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 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 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 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 294483	NM_000186.4(CFH):c.350+9T>C	CFH	Single nucleotide variant (intron variant)	Basal laminar drusen +5 more	GBenign/Likely 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 294484	NM_000186.4(CFH):c.428-14T>C	CFH	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1008944	NM_000186.4(CFH):c.472G>A (p.Val158Ile)	CFH (V158I)	Single nucleotide variant (missense variant)	not provided +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 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 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 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 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 1011109	NM_000186.4(CFH):c.647T>C (p.Ile216Thr)	CFH (I216T)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GUncertain significance
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 1130653	NM_000186.4(CFH):c.849A>G (p.Lys283=)	CFH	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
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 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 1111430	NM_000186.4(CFH):c.964+18C>A	CFH	Single nucleotide variant (intron variant)	Basal laminar drusen +4 more	GLikely 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 1006921	NM_000186.4(CFH):c.1198C>A (p.Gln400Lys)	CFH (Q400K)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
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 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 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 871210	NM_000186.4(CFH):c.1612G>C (p.Asp538His)	CFH (D538H)	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 830004	NM_000186.4(CFH):c.1699A>G (p.Arg567Gly)	CFH (R567G)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 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 988218	NM_000186.4(CFH):c.1825G>A (p.Val609Ile)	CFH (V609I)	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 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 1080080	NM_000186.4(CFH):c.1935G>A (p.Thr645=)	CFH	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 294496	NM_000186.4(CFH):c.1935G>T (p.Thr645=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GBenign/Likely 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 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 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 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 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 1023318	NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)	CFH (F717L)	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 294501	NM_000186.4(CFH):c.2236+8T>A	CFH	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign/Likely benign
Select item 799361	NM_000186.4(CFH):c.2236+10C>G	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)	Age related macular degeneration 4 +4 more	GLikely benign
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 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 625916	NM_000186.4(CFH):c.2461C>T (p.His821Tyr)	CFH (H821Y)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 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 294502	NM_000186.4(CFH):c.2509G>A (p.Val837Ile)	CFH (V837I)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GBenign/Likely benign
Select item 294505	NM_000186.4(CFH):c.2637A>G (p.Gly879=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GBenign/Likely benign
Select item 294509	NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)	CFH (E936D)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
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 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 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 1630939	NM_000186.4(CFH):c.2957-15T>C	CFH	Single nucleotide variant (intron variant)	Basal laminar drusen +4 more	GLikely benign
Select item 451521	NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)	CFH (A1010T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 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 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 294517	NM_000186.4(CFH):c.3133+8G>T	CFH	Single nucleotide variant (intron variant)	Factor H deficiency +6 more	GBenign/Likely benign
Select item 294518	NM_000186.4(CFH):c.3134-7T>C	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +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 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 294521	NM_000186.4(CFH):c.3172T>C (p.Tyr1058His)	CFH (Y1058H)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GLikely benign
Select item 294522	NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)	CFH (V1060L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 294523	NM_000186.4(CFH):c.3207T>C (p.Ser1069=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GBenign/Likely benign
Select item 799362	NM_000186.4(CFH):c.3318A>G (p.Thr1106=)	CFH	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GLikely benign
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 16545	NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	CFH (S1191L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 21090	NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)	CFH (V1197A)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 16558	NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	CFH (R1210C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity

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Items: 78