"GeneDx"[submitter] AND "CFH"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 1249325	NC_000001.11:g.196651787C>T	CFH	Single nucleotide variant	not provided	GBenign
Select item 294473	NM_000186.3(CFH):c.-195T>C	CFH	Single nucleotide variant	Factor H deficiency +5 more	GBenign
Select item 1224094	NM_000186.4(CFH):c.58+150T>C	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229190	NM_000186.4(CFH):c.58+204T>A	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1280754	NM_000186.4(CFH):c.620-140C>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
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 1162886	NM_000186.4(CFH):c.694C>T (p.Arg232Ter)	CFH (R232*)	Single nucleotide variant (nonsense)	Factor H deficiency +1 more	GPathogenic/Likely pathogenic
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 294488	NM_000186.4(CFH):c.921A>C (p.Ala307=)	CFH	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 1276326	NM_000186.4(CFH):c.965-53G>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392888	NM_000186.4(CFH):c.1141C>A (p.Pro381Thr)	CFH (P381T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289573	NM_000186.4(CFH):c.1159+161G>A	CFH	Single nucleotide variant (intron variant)	not provided	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 1723621	NM_000186.4(CFH):c.1164A>C (p.Lys388Asn)	CFH (K388N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376034	NM_000186.4(CFH):c.1166G>A (p.Cys389Tyr)	CFH (C389Y)	Single nucleotide variant (missense variant)	not provided	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 3365512	NM_000186.4(CFH):c.1226G>T (p.Gly409Val)	CFH (G409V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412964	NM_000186.4(CFH):c.1325G>A (p.Cys442Tyr)	CFH (C442Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378223	NM_000186.4(CFH):c.1405T>G (p.Leu469Val)	CFH (L469V)	Single nucleotide variant (missense variant)	not provided	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 1243282	NM_000186.4(CFH):c.1519+97A>G	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265873	NM_000186.4(CFH):c.1520-149C>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290753	NM_000186.4(CFH):c.1520-148A>G	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258057	NM_000186.4(CFH):c.1520-98G>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1248201	NM_000186.4(CFH):c.2237-188C>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258281	NM_000186.4(CFH):c.2414-68T>G	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274202	NM_000186.4(CFH):c.2414-28C>A	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239984	NM_000186.4(CFH):c.2596+64C>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 294510	NM_000186.4(CFH):c.2850G>T (p.Gln950His)	CFH (Q950H)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GConflicting classifications of pathogenicity
Select item 294511	NM_000186.4(CFH):c.2867C>T (p.Thr956Met)	CFH (T956M)	Single nucleotide variant (missense variant)	Basal laminar drusen +7 more	GConflicting classifications of pathogenicity
Select item 1303211	NM_000186.4(CFH):c.2918G>A (p.Cys973Tyr)	CFH (C973Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1288303	NM_000186.4(CFH):c.2956+235C>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279488	NM_000186.4(CFH):c.2957-215T>G	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228859	NM_000186.4(CFH):c.2957-89T>C	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280949	NM_000186.4(CFH):c.2957-88A>G	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252853	NM_000186.4(CFH):c.2966G>A (p.Cys989Tyr)	CFH (C989Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 294514	NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)	CFH (V1007L)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
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 289336	NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)	CFH (I1059T)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 1250753	NM_000186.4(CFH):c.3310+144C>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1163684	NM_000186.4(CFH):c.3356A>G (p.Asp1119Gly)	CFH (D1119G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 294525	NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu)	CFH (Q1143E)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GBenign
Select item 422355	NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln)	CFH (R1149Q)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1237438	NM_000186.4(CFH):c.3493+174C>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256721	NM_000186.4(CFH):c.3494-134C>T	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283729	NM_000186.4(CFH):c.3494-125T>C	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259020	NM_000186.4(CFH):c.3494-116T>C	CFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 294528	NM_000186.4(CFH):c.*98C>T	CFH	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GBenign
Select item 294529	NM_000186.4(CFH):c.*178T>A	CFH	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GBenign

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Items: 56