CFHR2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 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 1288324	NM_005666.4(CFHR2):c.-65C>G	CFHR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2682704	NM_005666.4(CFHR2):c.19del (p.Ser6_Val7insTer)	CFHR2	Deletion (nonsense)	not provided	GUncertain significance
Select item 2682705	NM_005666.4(CFHR2):c.31T>C (p.Ser11Pro)	CFHR2 (S11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271113	NM_005666.4(CFHR2):c.58+129C>G	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2637842	NM_005666.4(CFHR2):c.59-12T>C	CFHR2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2301068	NM_005666.4(CFHR2):c.66C>G (p.Phe22Leu)	CFHR2 (F22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2637659	NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu)	CFHR2 (K27E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2581640	NM_005666.4(CFHR2):c.114A>G (p.Lys38=)	CFHR2	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 727070	NM_005666.4(CFHR2):c.195C>A (p.Ser65=)	CFHR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2581641	NM_005666.4(CFHR2):c.206G>T (p.Arg69Leu)	CFHR2 (R69L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2682706	NM_005666.4(CFHR2):c.208A>G (p.Ile70Val)	CFHR2 (I70V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712465	NM_005666.4(CFHR2):c.212C>T (p.Thr71Met)	CFHR2 (T71M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1712443	NM_005666.4(CFHR2):c.213G>A (p.Thr71=)	CFHR2	Single nucleotide variant (synonymous variant +1 more)	Atypical hemolytic-uremic syndrome	GBenign
Select item 1712442	NM_005666.4(CFHR2):c.215G>A (p.Cys72Tyr)	CFHR2 (C72Y)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome	GBenign
Select item 2370593	NM_005666.4(CFHR2):c.217G>A (p.Ala73Thr)	CFHR2 (A73T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1299802	NM_005666.4(CFHR2):c.253+13C>T	CFHR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708283	NM_005666.4(CFHR2):c.325A>G (p.Thr109Ala)	CFHR2 (T109A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2509194	NM_005666.4(CFHR2):c.328G>A (p.Val110Ile)	CFHR2 (V110I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732212	NM_005666.4(CFHR2):c.334_337del (p.Ile112fs)	CFHR2 (I112fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 2519107	NM_005666.4(CFHR2):c.344A>T (p.Asn115Ile)	CFHR2 (N50I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529854	NM_005666.4(CFHR2):c.366C>G (p.Asn122Lys)	CFHR2 (N57K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508440	NM_005666.4(CFHR2):c.392A>G (p.Glu131Gly)	CFHR2 (E131G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789953	NM_005666.4(CFHR2):c.395G>A (p.Arg132Gln)	CFHR2 (R132Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1231528	NM_005666.4(CFHR2):c.420C>T (p.Cys140=)	CFHR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 623427	NM_005666.4(CFHR2):c.430+1G>A	CFHR2	Single nucleotide variant (splice donor variant +1 more)	High myopia	GUncertain significance
Select item 789954	NM_005666.4(CFHR2):c.430+7G>A	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192202	NM_005666.4(CFHR2):c.430+20C>T	CFHR2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1288915	NM_005666.4(CFHR2):c.430+141T>A	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261818	NM_005666.4(CFHR2):c.431-222C>T	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290755	NM_005666.4(CFHR2):c.431-65C>T	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242121	NM_005666.4(CFHR2):c.431-48C>A	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2346135	NM_005666.4(CFHR2):c.446G>T (p.Cys149Phe)	CFHR2 (C149F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143801	NM_005666.4(CFHR2):c.496T>C (p.Ser166Pro)	CFHR2 (S101P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284062	NM_005666.4(CFHR2):c.557G>A (p.Gly186Asp)	CFHR2 (G121D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773118	NM_005666.4(CFHR2):c.595G>T (p.Glu199Ter)	CFHR2 (E75* +1 more)	Single nucleotide variant (nonsense)	Non-immunoglobulin-mediated membranoproliferative glomerulonephritis +1 more	GConflicting classifications of pathogenicity
Select item 2396924	NM_005666.4(CFHR2):c.596A>T (p.Glu199Val)	CFHR2 (E199V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227823	NM_005666.4(CFHR2):c.613+225T>G	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251783	NM_005666.4(CFHR2):c.614-240T>A	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270799	NM_005666.4(CFHR2):c.614-223A>G	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277641	NM_005666.4(CFHR2):c.614-220G>A	CFHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2277145	NM_005666.4(CFHR2):c.627A>G (p.Ile209Met)	CFHR2 (I85M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729514	NM_005666.4(CFHR2):c.656_657del (p.Ile219fs)	CFHR2 (I219fs +1 more)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 729791	NM_005666.4(CFHR2):c.760C>T (p.Arg254Ter)	CFHR2 (R130* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GBenign/Likely benign
Select item 3143802	NM_005666.4(CFHR2):c.761G>A (p.Arg254Gln)	CFHR2 (R254Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143803	NM_005666.4(CFHR2):c.787G>A (p.Val263Ile)	CFHR2 (V139I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1712446	NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys)	CFHR2 (Y140C +2 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 1879127	GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1	ASPM, CFH +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1446722	NC_000001.10:g.(?_196621248)_(197447009_?)dup	F13B, ZBTB41 +8 more	Duplication	not provided	GUncertain significance
Select item 1076360	NC_000001.10:g.(?_196918585)_(197742062_?)del	DENND1B, CRB1 +5 more	Deletion	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 814154	GRCh37/hg19 1q31.3(chr1:196397668-196946808)x3	CFH, CFHR1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 686360	GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1	ASPM, ATP6V1G3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565208	GRCh37/hg19 1q31.3(chr1:195089818-197443021)x1	ASPM, CFH +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70