CFHR3[gene] - ClinVar - NCBI

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	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 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
Select item 155077	GRCh38/hg38 1q31.3(chr1:196301629-196775650)x1	CFH, CFHR3 +5 more	Copy number loss	See cases	GUncertain significance
Select item 221377	GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1	CFH, CFHR1 +12 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2500782	NC_000001.11:g.196706898_196873196del	CFH, CFHR1 +4 more	Deletion	Atypical hemolytic-uremic syndrome with I factor anomaly	GPathogenic
Select item 221686	GRCh38/hg38 1q31.3(chr1:196743467-196912909)x1	CFH, CFHR4 +4 more	Copy number loss	Premature ovarian failure	GBenign
Select item 21089	NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del	CFH, CFHR1 +1 more	Deletion	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 5065	NC_000001.10:g.(196722206_?)_(?_196808505)del	CFHR1, CFHR3	Deletion	Age-related macular degeneration +1 more	GPathogenic; risk factor
Select item 147041	GRCh38/hg38 1q31.3(chr1:196769797-196830143)x1	CFHR1, CFHR3	Copy number loss	See cases	GBenign
Select item 147040	GRCh38/hg38 1q31.3(chr1:196769797-196830143)x3	CFHR1, CFHR3	Copy number gain	See cases	GBenign
Select item 147003	GRCh38/hg38 1q31.3(chr1:196769797-196929505)x1	CFHR1, CFHR3 +3 more	Copy number loss	See cases	GBenign
Select item 1246001	NC_000001.11:g.196774696T>G	CFHR3	Single nucleotide variant	not provided	GBenign
Select item 1233740	NC_000001.11:g.196774797A>C	CFHR3	Single nucleotide variant	not provided	GBenign
Select item 1275873	NC_000001.11:g.196774834C>A	CFHR3	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 775632	NM_021023.6(CFHR3):c.10C>T (p.Leu4=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2397654	NM_021023.6(CFHR3):c.14T>C (p.Ile5Thr)	CFHR3 (I5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709013	NM_021023.6(CFHR3):c.27G>A (p.Leu9=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3266599	NM_021023.6(CFHR3):c.28A>T (p.Thr10Ser)	CFHR3 (T10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774281	NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala)	CFHR3 (G18A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3044798	NM_021023.6(CFHR3):c.58+5G>A	CFHR3	Single nucleotide variant (intron variant)	CFHR3-related disorder	GLikely benign
Select item 782688	NM_021023.6(CFHR3):c.58+8A>G	CFHR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 154776	GRCh38/hg38 1q31.3(chr1:196775791-196830176)x3	CFHR1, CFHR3	Copy number gain	See cases	GLikely benign
Select item 149516	GRCh38/hg38 1q31.3(chr1:196775791-196830176)x1	CFHR1, CFHR3	Copy number loss	See cases	GLikely benign
Select item 154616	GRCh38/hg38 1q31.3(chr1:196776934-196828033)x1	CFHR1, CFHR3	Copy number loss	See cases	GBenign
Select item 147573	GRCh38/hg38 1q31.3(chr1:196776934-196914268)x1	CFHR1, CFHR3 +3 more	Copy number loss	See cases	GBenign
Select item 147555	GRCh38/hg38 1q31.3(chr1:196776934-196828033)x3	CFHR1, CFHR3	Copy number gain	See cases	GBenign
Select item 730391	NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys)	CFHR3 (F34C)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +3 more	GBenign/Likely benign
Select item 1804819	NM_021023.6(CFHR3):c.106G>T (p.Glu36Ter)	CFHR3 (E36*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2682693	NM_021023.6(CFHR3):c.115C>T (p.Arg39Cys)	CFHR3 (R39C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266600	NM_021023.6(CFHR3):c.116G>T (p.Arg39Leu)	CFHR3 (R39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693720	NM_021023.6(CFHR3):c.116G>A (p.Arg39His)	CFHR3 (R39H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682694	NM_021023.6(CFHR3):c.157T>C (p.Tyr53His)	CFHR3 (Y53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3143804	NM_021023.6(CFHR3):c.161A>G (p.Tyr54Cys)	CFHR3 (Y54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266597	NM_021023.6(CFHR3):c.202G>A (p.Asp68Asn)	CFHR3 (D68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143805	NM_021023.6(CFHR3):c.209T>C (p.Ile70Thr)	CFHR3 (I70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397575	NM_021023.6(CFHR3):c.235C>T (p.Pro79Ser)	CFHR3 (P79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1222856	NM_021023.6(CFHR3):c.253+190A>G	CFHR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 767739	NM_021023.6(CFHR3):c.299A>G (p.Tyr100Cys)	CFHR3 (Y100C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3053010	NM_021023.6(CFHR3):c.300T>C (p.Tyr100=)	CFHR3	Single nucleotide variant (synonymous variant)	CFHR3-related disorder	GLikely benign
Select item 748796	NM_021023.6(CFHR3):c.306A>G (p.Arg102=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163766	NM_021023.6(CFHR3):c.354C>A (p.Tyr118Ter)	CFHR3 (Y118*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 761758	NM_021023.6(CFHR3):c.354C>T (p.Tyr118=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1712376	NM_021023.6(CFHR3):c.355G>C (p.Gly119Arg)	CFHR3 (G119R)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 2515390	NM_021023.6(CFHR3):c.356G>C (p.Gly119Ala)	CFHR3 (G119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266598	NM_021023.6(CFHR3):c.409A>G (p.Thr137Ala)	CFHR3 (T137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514761	NM_021023.6(CFHR3):c.413C>T (p.Pro138Leu)	CFHR3 (P138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775633	NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys)	CFHR3 (R142C)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GBenign
Select item 1245305	NM_021023.6(CFHR3):c.431-263C>T	CFHR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271619	NM_021023.6(CFHR3):c.431-253A>C	CFHR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258352	NM_021023.6(CFHR3):c.431-88C>T	CFHR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58538	GRCh38/hg38 1q31.3(chr1:196788148-196827586)x1	CFHR1, CFHR3	Copy number loss	See cases	GPathogenic
Select item 1244350	NM_021023.6(CFHR3):c.477C>T (p.Ser159=)	CFHR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3143806	NM_021023.6(CFHR3):c.494A>T (p.Tyr165Phe)	CFHR3 (Y165F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143808	NM_021023.6(CFHR3):c.600A>T (p.Gln200His)	CFHR3 (Q200H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771691	NM_021023.6(CFHR3):c.613+2T>C	CFHR3	Single nucleotide variant (splice donor variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2672373	NM_021023.6(CFHR3):c.613+405T>C	CFHR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1163767	NM_021023.6(CFHR3):c.614-4del	CFHR3	Deletion (intron variant)	not provided	GUncertain significance
Select item 3266596	NM_021023.6(CFHR3):c.651C>G (p.Ser217Arg)	CFHR3 (S156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278073	NM_021023.6(CFHR3):c.652A>T (p.Asn218Tyr)	CFHR3 (N218Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730392	NM_021023.6(CFHR3):c.720G>C (p.Gln240His)	CFHR3 (Q179H +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GBenign
Select item 778240	NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser)	CFHR3 (P180S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2682695	NM_021023.6(CFHR3):c.727T>G (p.Tyr243Asp)	CFHR3 (Y182D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639687	NM_021023.6(CFHR3):c.753A>G (p.Val251=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736314	NM_021023.6(CFHR3):c.756A>T (p.Thr252=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597068	NM_021023.6(CFHR3):c.776C>T (p.Ser259Leu)	CFHR3 (S198L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771316	NM_021023.6(CFHR3):c.786A>T (p.Pro262=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2639688	NM_021023.6(CFHR3):c.796C>T (p.His266Tyr)	CFHR3 (H205Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2445963	NM_021023.6(CFHR3):c.796+1G>A	CFHR3	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1247028	NM_021023.6(CFHR3):c.796+22T>A	CFHR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639689	NM_021023.6(CFHR3):c.796+512AATA[12]	CFHR3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2639690	NM_021023.6(CFHR3):c.796+772A>T	CFHR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271429	NM_021023.6(CFHR3):c.797-190T>C	CFHR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287383	NM_021023.6(CFHR3):c.797-145C>A	CFHR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639691	NM_021023.6(CFHR3):c.797-64G>T	CFHR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 523008	NM_021023.6(CFHR3):c.803G>T (p.Cys268Phe)	CFHR3 (C268F +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 1	GLikely benign
Select item 774401	NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)	CFHR3 (I269V +1 more)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GLikely benign
Select item 2370848	NM_021023.6(CFHR3):c.822C>A (p.Asn274Lys)	CFHR3 (N213K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682696	NM_021023.6(CFHR3):c.832A>G (p.Asn278Asp)	CFHR3 (N217D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1723337	NM_021023.6(CFHR3):c.841_842del (p.Lys281fs)	CFHR3 (K220fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2381198	NM_021023.6(CFHR3):c.841A>C (p.Lys281Gln)	CFHR3 (K220Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2576114	NM_021023.6(CFHR3):c.844T>G (p.Leu282Val)	CFHR3 (L221V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338579	NM_021023.6(CFHR3):c.890C>T (p.Thr297Ile)	CFHR3 (T297I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462912	NM_021023.6(CFHR3):c.914G>A (p.Gly305Glu)	CFHR3 (G244E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639692	NM_021023.6(CFHR3):c.924A>G (p.Ala308=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639693	NM_021023.6(CFHR3):c.934A>G (p.Ile312Val)	CFHR3 (I251V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775634	NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe)	CFHR3 (I251F +1 more)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GBenign/Likely benign
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 734286	NM_021023.6(CFHR3):c.958C>A (p.Arg320=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2397714	NM_021023.6(CFHR3):c.959G>A (p.Arg320Gln)	CFHR3 (R320Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734287	NM_021023.6(CFHR3):c.966G>C (p.Gly322=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373510	NM_021023.6(CFHR3):c.988G>A (p.Glu330Lys)	CFHR3 (E269K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264240	NM_021023.6(CFHR3):c.*265G>C	CFHR3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3339543	NC_000001.10:g.(?_196743969)_(196744075_196748291)del	CFHR3	Deletion	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3024573	GRCh37/hg19 1q31.3(chr1:196744017-196801129)x1	CFHR1, CFHR3	Copy number loss	not provided	GLikely benign
Select item 1879127	GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1	ASPM, C1orf53 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic

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