3075[geneid] - 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 1249325	NC_000001.11:g.196651787C>T	CFH	Single nucleotide variant	not provided	GBenign
Select item 3054004	NC_000001.11:g.196651799A>C	CFH	Single nucleotide variant	CFH-related disorder	GLikely benign
Select item 2578592	NC_000001.11:g.196651811C>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 294474	NM_000186.3(CFH):c.-175T>C	CFH	Single nucleotide variant	Basal laminar drusen +3 more	GUncertain significance
Select item 294475	NM_000186.3(CFH):c.-124G>T	CFH	Single nucleotide variant	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +4 more	GBenign/Likely benign
Select item 294476	NM_000186.3(CFH):c.-79A>G	CFH	Single nucleotide variant	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +4 more	GLikely benign
Select item 294477	NM_000186.4(CFH):c.-61A>G	CFH	Single nucleotide variant (5 prime UTR variant)	Basal laminar drusen +3 more	GUncertain significance
Select item 294478	NM_000186.4(CFH):c.-36G>C	CFH	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 4 +3 more	GBenign/Likely benign
Select item 2682680	NM_000186.4(CFH):c.-19C>T	CFH	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1388423	NM_000186.4(CFH):c.5G>C (p.Arg2Thr)	CFH (R2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 875857	NM_000186.4(CFH):c.7C>G (p.Leu3Val)	CFH (L3V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1909237	NM_000186.4(CFH):c.11T>C (p.Leu4Pro)	CFH (L4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933820	NM_000186.4(CFH):c.14C>T (p.Ala5Val)	CFH (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 875858	NM_000186.4(CFH):c.16A>G (p.Lys6Glu)	CFH (K6E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1997050	NM_000186.4(CFH):c.32T>C (p.Met11Thr)	CFH (M11T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 876852	NM_000186.4(CFH):c.33G>T (p.Met11Ile)	CFH (M11I)	Single nucleotide variant (missense variant)	Basal laminar drusen +5 more	GUncertain significance
Select item 2637684	NM_000186.4(CFH):c.35T>C (p.Leu12Ser)	CFH (L12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1060566	NM_000186.4(CFH):c.44T>C (p.Ile15Thr)	CFH (I15T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712461	NM_000186.4(CFH):c.47del (p.Cys16fs)	CFH (C16fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 1717387	NM_000186.4(CFH):c.49G>A (p.Val17Ile)	CFH (V17I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734060	NM_000186.4(CFH):c.50T>G (p.Val17Gly)	CFH (V17G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923856	NM_000186.4(CFH):c.52G>T (p.Ala18Ser)	CFH (A18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522442	NM_000186.4(CFH):c.58G>A (p.Asp20Asn)	CFH (D20N)	Single nucleotide variant (missense variant)	Factor H deficiency +1 more	GUncertain significance
Select item 3016330	NM_000186.4(CFH):c.58+1G>T	CFH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2777878	NM_000186.4(CFH):c.58+5G>T	CFH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1939245	NM_000186.4(CFH):c.58+6A>C	CFH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2797291	NM_000186.4(CFH):c.58+16A>G	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2581283	NM_000186.4(CFH):c.58+19C>G	CFH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1667884	NM_000186.4(CFH):c.58+19C>T	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165543	NM_000186.4(CFH):c.58+22_58+23del	CFH	Deletion (intron variant)	not provided	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 1989680	NM_000186.4(CFH):c.59-20T>G	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642820	NM_000186.4(CFH):c.59-16T>C	CFH	Single nucleotide variant (intron variant)	Factor H deficiency +4 more	GLikely benign
Select item 635433	NM_000186.4(CFH):c.59-10T>G	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 1478967	NM_000186.4(CFH):c.65A>G (p.Asn22Ser)	CFH (N22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980556	NM_000186.4(CFH):c.67G>A (p.Glu23Lys)	CFH (E23K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611445	NM_000186.4(CFH):c.69A>G (p.Glu23=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874923	NM_000186.4(CFH):c.73C>T (p.Pro25Ser)	CFH (P25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16552	NM_000186.4(CFH):c.83_86del (p.Arg28fs)	CFH (R28fs)	Deletion (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Grisk factor
Select item 1994867	NM_000186.4(CFH):c.95T>A (p.Ile32Asn)	CFH (I32N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355886	NM_000186.4(CFH):c.100A>T (p.Thr34Ser)	CFH (T34S)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 294479	NM_000186.4(CFH):c.103G>A (p.Gly35Ser)	CFH (G35S)	Single nucleotide variant (missense variant)	Basal laminar drusen +3 more	GUncertain significance
Select item 2772838	NM_000186.4(CFH):c.116A>G (p.Asp39Gly)	CFH (D39G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162883	NM_000186.4(CFH):c.122C>T (p.Thr41Ile)	CFH (T41I)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 2876283	NM_000186.4(CFH):c.123A>G (p.Thr41=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184867	NM_000186.4(CFH):c.125A>T (p.Tyr42Phe)	CFH (Y42F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913365	NM_000186.4(CFH):c.133G>A (p.Gly45Ser)	CFH (G45S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469866	NM_000186.4(CFH):c.136A>G (p.Thr46Ala)	CFH (T46A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853968	NM_000186.4(CFH):c.138C>G (p.Thr46=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783825	NM_000186.4(CFH):c.143C>T (p.Ala48Val)	CFH (A48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151909	NM_000186.4(CFH):c.145A>G (p.Ile49Val)	CFH (I49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798888	NM_000186.4(CFH):c.146T>C (p.Ile49Thr)	CFH (I49T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783425	NM_000186.4(CFH):c.150T>C (p.Tyr50=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1068249	NM_000186.4(CFH):c.157C>T (p.Arg53Cys)	CFH (R53C)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GPathogenic/Likely pathogenic
Select item 2683636	NM_000186.4(CFH):c.158G>A (p.Arg53His)	CFH (R53H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2872396	NM_000186.4(CFH):c.159C>G (p.Arg53=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682681	NM_000186.4(CFH):c.163G>A (p.Gly55Arg)	CFH (G55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874052	NM_000186.4(CFH):c.172T>G (p.Ser58Ala)	CFH (S58A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2792600	NM_000186.4(CFH):c.176T>C (p.Leu59Pro)	CFH (L59P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001437	NM_000186.4(CFH):c.183T>C (p.Asn61=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2754263	NM_000186.4(CFH):c.195A>T (p.Val65=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2880585	NM_000186.4(CFH):c.205G>C (p.Gly69Arg)	CFH (G69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417726	NM_000186.4(CFH):c.213G>A (p.Trp71Ter)	CFH (W71*)	Single nucleotide variant (nonsense)	CFH-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 1383188	NM_000186.4(CFH):c.214G>A (p.Val72Ile)	CFH (V72I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977665	NM_000186.4(CFH):c.218C>T (p.Ala73Val)	CFH (A73V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695629	NM_000186.4(CFH):c.219T>A (p.Ala73=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170701	NM_000186.4(CFH):c.219T>C (p.Ala73=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103792	NM_000186.4(CFH):c.220C>G (p.Leu74Val)	CFH (L74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091536	NM_000186.4(CFH):c.223A>C (p.Asn75His)	CFH (N75H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699060	NM_000186.4(CFH):c.225T>C (p.Asn75=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3143795	NM_000186.4(CFH):c.235A>G (p.Lys79Glu)	CFH (K79E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1899164	NM_000186.4(CFH):c.237A>G (p.Lys79=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947670	NM_000186.4(CFH):c.244+19T>C	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553720	NM_000186.4(CFH):c.245-9dup	CFH	Duplication (intron variant)	Basal laminar drusen +4 more	GBenign/Likely benign
Select item 1168607	NM_000186.4(CFH):c.245-11_245-9dup	CFH	Duplication (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1166414	NM_000186.4(CFH):c.245-10_245-9dup	CFH	Duplication (intron variant)	Factor H deficiency +6 more	GBenign
Select item 2758062	NM_000186.4(CFH):c.245-10_245-9del	CFH	Deletion (intron variant)	not provided	GLikely benign
Select item 1591064	NM_000186.4(CFH):c.245-9del	CFH	Deletion (intron variant)	Age related macular degeneration 4 +4 more	GBenign/Likely benign
Select item 1133698	NM_000186.4(CFH):c.245-17T>A	CFH	Single nucleotide variant (intron variant)	Basal laminar drusen +4 more	GLikely benign
Select item 874979	NM_000186.4(CFH):c.245-15T>C	CFH	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1896481	NM_000186.4(CFH):c.245-13_245-12insCT	CFH	Insertion (intron variant)	not provided	GBenign
Select item 2812659	NM_000186.4(CFH):c.245-12T>A	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 710193	NM_000186.4(CFH):c.245-8C>T	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +4 more	GLikely benign
Select item 294480	NM_000186.4(CFH):c.245-7G>A	CFH	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign/Likely benign
Select item 3234076	NM_000186.4(CFH):c.245-1G>C	CFH	Single nucleotide variant (splice acceptor variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 2734061	NM_000186.4(CFH):c.245A>G (p.Lys82Arg)	CFH (K82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2202896	NM_000186.4(CFH):c.269A>G (p.Asp90Gly)	CFH (D90G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963124	NM_000186.4(CFH):c.270T>C (p.Asp90=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2202897	NM_000186.4(CFH):c.272C>G (p.Thr91Ser)	CFH (T91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756828	NM_000186.4(CFH):c.273T>A (p.Thr91=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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