4890[HGNC] - ClinVar

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Items: 72

	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 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 3251571	NM_005666.4(CFHR2):c.254-6C>G	CFHR2	Single nucleotide variant (intron variant)	not specified	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 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
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
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	ASPM, CFH +8 more	Duplication	not provided	GUncertain significance
Select item 1076360	NC_000001.10:g.(?_196918585)_(197742062_?)del	ASPM, CFHR2 +5 more	Deletion	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +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	C4BPB, CACNA1S +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic

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Items: 72