C2749604[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294473	NM_000186.3(CFH):c.-195T>C	CFH	Single nucleotide variant	Factor H deficiency +5 more	GBenign
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 876852	NM_000186.4(CFH):c.33G>T (p.Met11Ile)	CFH (M11I)	Single nucleotide variant (missense variant)	Basal laminar drusen +5 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 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 16550	NM_000186.4(CFH):c.184G>A (p.Val62Ile)	CFH (V62I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +6 more	GBenign
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 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 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 294480	NM_000186.4(CFH):c.245-7G>A	CFH	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 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 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 502393	NM_000186.4(CFH):c.388G>A (p.Asp130Asn)	CFH (D130N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 294486	NM_000186.4(CFH):c.477T>C (p.Ser159=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GBenign
Select item 625915	NM_000186.4(CFH):c.481G>T (p.Ala161Ser)	CFH (A161S)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 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 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 636726	NM_000186.4(CFH):c.524G>C (p.Arg175Pro)	CFH (R175P)	Single nucleotide variant (missense variant)	not provided +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 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 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 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 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 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 294488	NM_000186.4(CFH):c.921A>C (p.Ala307=)	CFH	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
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 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 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 294489	NM_000186.4(CFH):c.1160-15T>C	CFH	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 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 294490	NM_000186.4(CFH):c.1204C>T (p.His402Tyr)	CFH (H402Y)	Single nucleotide variant (missense variant)	Factor H deficiency +6 more	GConflicting classifications of pathogenicity
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 294491	NM_000186.4(CFH):c.1419G>A (p.Ala473=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
Select item 294492	NM_000186.4(CFH):c.1428A>G (p.Gln476=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GBenign
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 157562	NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)	CFH (P503A)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +5 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 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 294494	NM_000186.4(CFH):c.1652T>C (p.Ile551Thr)	CFH (I551T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
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 722920	NM_000186.4(CFH):c.1707C>T (p.Cys569=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +4 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 294498	NM_000186.4(CFH):c.2016A>G (p.Gln672=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
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 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 758181	NM_000186.4(CFH):c.2085T>A (p.Pro695=)	CFH	Single nucleotide variant (synonymous variant)	Factor H deficiency +4 more	GLikely benign
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 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 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 874263	NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)	CFH (I760L)	Single nucleotide variant (missense variant)	not provided +6 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 1338097	NM_000186.4(CFH):c.2427A>G (p.Gln809=)	CFH	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
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 294503	NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)	CFH (G848R)	Single nucleotide variant (missense variant)	Factor H deficiency +5 more	GUncertain significance
Select item 294504	NM_000186.4(CFH):c.2634C>T (p.His878=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +7 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 294506	NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)	CFH (T880I)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GUncertain significance
Select item 294507	NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)	CFH (S890I)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
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 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 1668120	NM_000186.4(CFH):c.2783-3dup	CFH	Duplication (intron variant)	Atypical hemolytic-uremic syndrome +6 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

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