CFHR5[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 221377	GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1	CFH, CFHR1 +12 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1268818	NC_000001.11:g.196977290T>A	CFHR5	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1240837	NC_000001.11:g.196977306del	CFHR5	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 1274652	NC_000001.11:g.196977318G>A	CFHR5	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1225260	NC_000001.11:g.196977416T>C	CFHR5	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 294530	NM_030787.4(CFHR5):c.-76_-75del	CFHR5	Deletion (5 prime UTR variant)	Mesangiocapillary glomerulonephritis, type II	GUncertain significance
Select item 294531	NM_030787.4(CFHR5):c.-20T>C	CFHR5	Single nucleotide variant (5 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign
Select item 1028902	NM_030787.4(CFHR5):c.1A>G (p.Met1Val)	CFHR5 (M1V)	Single nucleotide variant (missense variant +1 more)	CFHR5 deficiency	GUncertain significance
Select item 982718	NM_030787.4(CFHR5):c.14T>A (p.Phe5Tyr)	CFHR5 (F5Y)	Single nucleotide variant (missense variant)	CFHR5 deficiency	GUncertain significance
Select item 1341892	NM_030787.4(CFHR5):c.53dup (p.Glu19fs)	CFHR5 (E19fs)	Duplication (frameshift variant)	CFHR5 deficiency	GUncertain significance
Select item 294532	NM_030787.4(CFHR5):c.51G>A (p.Gly17=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 1273904	NM_030787.4(CFHR5):c.58+17T>A	CFHR5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1913903	NM_030787.4(CFHR5):c.58+19C>T	CFHR5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248903	NM_030787.4(CFHR5):c.58+178T>C	CFHR5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277859	NM_030787.4(CFHR5):c.58+287C>T	CFHR5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 37236	NM_030787.4(CFHR5):c.59-1806_430+3225dup	CFHR5	Duplication (splice acceptor variant +1 more)	C3 glomerulonephritis	GPathogenic
Select item 1222004	NM_030787.4(CFHR5):c.59-145A>G	CFHR5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2992054	NM_030787.4(CFHR5):c.59-15T>C	CFHR5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066804	NM_030787.4(CFHR5):c.61del (p.Thr21fs)	CFHR5 (T21fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2682707	NM_030787.4(CFHR5):c.62C>T (p.Thr21Ile)	CFHR5 (T21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2597054	NM_030787.4(CFHR5):c.71A>C (p.Asp24Ala)	CFHR5 (D24A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2980214	NM_030787.4(CFHR5):c.74T>A (p.Phe25Tyr)	CFHR5 (F25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874580	NM_030787.4(CFHR5):c.76C>T (p.Pro26Ser)	CFHR5 (P26S)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 3143834	NM_030787.4(CFHR5):c.90T>A (p.His30Gln)	CFHR5 (H30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397702	NM_030787.4(CFHR5):c.112G>T (p.Asp38Tyr)	CFHR5 (D38Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143823	NM_030787.4(CFHR5):c.115T>C (p.Tyr39His)	CFHR5 (Y39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 294533	NM_030787.4(CFHR5):c.120C>A (p.Asn40Lys)	CFHR5 (N40K)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 2161762	NM_030787.4(CFHR5):c.122C>G (p.Pro41Arg)	CFHR5 (P41R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775635	NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)	CFHR5 (P46S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3143828	NM_030787.4(CFHR5):c.180_181del (p.Pro62fs)	CFHR5 (P62fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 874581	NM_030787.4(CFHR5):c.178G>C (p.Val60Leu)	CFHR5 (V60L)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +1 more	GUncertain significance
Select item 2963451	NM_030787.4(CFHR5):c.205C>T (p.Arg69Cys)	CFHR5 (R69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163772	NM_030787.4(CFHR5):c.206G>A (p.Arg69His)	CFHR5 (R69H)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GUncertain significance
Select item 1969298	NM_030787.4(CFHR5):c.224A>G (p.Glu75Gly)	CFHR5 (E75G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732916	NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro)	CFHR5 (S78P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3380443	NM_030787.4(CFHR5):c.239C>A (p.Thr80Lys)	CFHR5 (T80K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331463	NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu)	CFHR5 (P81L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294534	NM_030787.4(CFHR5):c.243G>A (p.Pro81=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GBenign/Likely benign
Select item 3143829	NM_030787.4(CFHR5):c.248G>C (p.Cys83Ser)	CFHR5 (C83S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875504	NM_030787.4(CFHR5):c.253A>G (p.Arg85Gly)	CFHR5 (R85G)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 1237883	NM_030787.4(CFHR5):c.253+59C>T	CFHR5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278644	NM_030787.4(CFHR5):c.253+289C>T	CFHR5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236411	NM_030787.4(CFHR5):c.254-183G>A	CFHR5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1163773	NM_030787.4(CFHR5):c.254-2_266dup	CFHR5	Duplication (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 294535	NM_030787.4(CFHR5):c.254-8T>G	CFHR5	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GBenign/Likely benign
Select item 599457	NM_030787.4(CFHR5):c.254-5C>T	CFHR5	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +4 more	GBenign/Likely benign
Select item 2682708	NM_030787.4(CFHR5):c.258G>T (p.Met86Ile)	CFHR5 (M86I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031596	NM_030787.4(CFHR5):c.282_283insCTTCAGGACTTC (p.Asn94_Gly95insLeuGlnAspPhe)	CFHR5	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2031597	NM_030787.4(CFHR5):c.283G>A (p.Gly95Ser)	CFHR5 (G95S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957043	NM_030787.4(CFHR5):c.285T>C (p.Gly95=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 37239	NM_030787.4(CFHR5):c.314T>G (p.Leu105Arg)	CFHR5 (L105R)	Single nucleotide variant (missense variant)	Variant of unknown significance	GUncertain significance
Select item 294536	NM_030787.4(CFHR5):c.329T>C (p.Val110Ala)	CFHR5 (V110A)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign/Likely benign
Select item 294537	NM_030787.4(CFHR5):c.330A>C (p.Val110=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GBenign/Likely benign
Select item 1334034	NM_030787.4(CFHR5):c.331C>T (p.Gln111Ter)	CFHR5 (Q111*)	Single nucleotide variant (nonsense)	CFHR5 deficiency	GUncertain significance
Select item 3380447	NM_030787.4(CFHR5):c.344A>G (p.Asn115Ser)	CFHR5 (N115S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250460	NM_030787.4(CFHR5):c.361del (p.Gln121fs)	CFHR5 (Q121fs)	Deletion (frameshift variant)	C3 glomerulonephritis	GUncertain significance
Select item 3143830	NM_030787.4(CFHR5):c.376A>C (p.Asn126His)	CFHR5 (N126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397779	NM_030787.4(CFHR5):c.379A>G (p.Ile127Val)	CFHR5 (I127V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 294538	NM_030787.4(CFHR5):c.384G>T (p.Ser128=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GBenign/Likely benign
Select item 3143831	NM_030787.4(CFHR5):c.385T>C (p.Cys129Arg)	CFHR5 (C129R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2146011	NM_030787.4(CFHR5):c.390A>G (p.Val130=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068775	NM_030787.4(CFHR5):c.394C>T (p.Arg132Trp)	CFHR5 (R132W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2639698	NM_030787.4(CFHR5):c.394C>A (p.Arg132=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3266609	NM_030787.4(CFHR5):c.395G>T (p.Arg132Leu)	CFHR5 (R132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2418637	NM_030787.4(CFHR5):c.395G>A (p.Arg132Gln)	CFHR5 (R132Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266610	NM_030787.4(CFHR5):c.400T>C (p.Trp134Arg)	CFHR5 (W134R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2996307	NM_030787.4(CFHR5):c.419G>T (p.Cys140Phe)	CFHR5 (C140F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693735	NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro)	CFHR5 (T143P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294539	NM_030787.4(CFHR5):c.429T>C (p.Thr143=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +4 more	GBenign/Likely benign
Select item 3380454	NM_030787.4(CFHR5):c.430+5G>T	CFHR5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 875505	NM_030787.4(CFHR5):c.430+10A>G	CFHR5	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 1235865	NM_030787.4(CFHR5):c.431-228A>G	CFHR5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243356	NM_030787.4(CFHR5):c.431-204T>A	CFHR5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2148406	NM_030787.4(CFHR5):c.431A>G (p.Lys144Arg)	CFHR5 (K144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 876518	NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn)	CFHR5 (K144N)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GConflicting classifications of pathogenicity
Select item 294540	NM_030787.4(CFHR5):c.434G>A (p.Gly145Glu)	CFHR5 (G145E)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign
Select item 2386874	NM_030787.4(CFHR5):c.437A>G (p.Glu146Gly)	CFHR5 (E146G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1673811	NM_030787.4(CFHR5):c.465T>C (p.Asn155=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2705529	NM_030787.4(CFHR5):c.475C>G (p.Gln159Glu)	CFHR5 (Q159E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 402534	NM_030787.4(CFHR5):c.486dup (p.Glu163fs)	CFHR5 (E163fs)	Duplication	not provided +3 more	GConflicting classifications of pathogenicity
Select item 294541	NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)	CFHR5 (E163fs)	Duplication (frameshift variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2056269	NM_030787.4(CFHR5):c.486A>G (p.Lys162=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3143832	NM_030787.4(CFHR5):c.491G>A (p.Ser164Asn)	CFHR5 (S164N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2022326	NM_030787.4(CFHR5):c.493_494delinsCT (p.Tyr165Leu)	CFHR5 (Y165L)	Indel (missense variant)	not provided	GUncertain significance
Select item 294542	NM_030787.4(CFHR5):c.507C>T (p.Asp169=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign/Likely benign
Select item 876519	NM_030787.4(CFHR5):c.508G>A (p.Val170Met)	CFHR5 (V170M)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1338159	NM_030787.4(CFHR5):c.533A>G (p.Asn178Ser)	CFHR5 (N178S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3143833	NM_030787.4(CFHR5):c.538A>G (p.Ile180Val)	CFHR5 (I180V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3000819	NM_030787.4(CFHR5):c.539T>C (p.Ile180Thr)	CFHR5 (I180T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 633672	NM_030787.4(CFHR5):c.557C>A (p.Ser186Ter)	CFHR5 (S186*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 876520	NM_030787.4(CFHR5):c.576T>G (p.Phe192Leu)	CFHR5 (F192L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 37240	NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr)	CFHR5 (S195T)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +1 more	GUncertain significance
Select item 3006223	NM_030787.4(CFHR5):c.607+4A>G	CFHR5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 876521	NM_030787.4(CFHR5):c.608-6T>C	CFHR5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294543	NM_030787.4(CFHR5):c.608-3T>A	CFHR5	Single nucleotide variant (intron variant)	CFHR5 deficiency +1 more	GUncertain significance
Select item 3380457	NM_030787.4(CFHR5):c.608G>A (p.Gly203Glu)	CFHR5 (G203E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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