629[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 356249	NM_000063.6(C2):c.1414G>A (p.Ala472Thr)	C2, CFB (A472T +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 356250	NM_000063.6(C2):c.1450A>G (p.Ile484Val)	C2, CFB (I484V +4 more)	Single nucleotide variant (missense variant)	Macular degeneration +4 more	GConflicting classifications of pathogenicity
Select item 356251	NM_000063.6(C2):c.1529G>A (p.Arg510His)	C2, CFB (R510H +4 more)	Single nucleotide variant (missense variant)	Macular degeneration +4 more	GConflicting classifications of pathogenicity
Select item 908037	NM_000063.6(C2):c.1577A>G (p.Lys526Arg)	C2, CFB (K312R +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +5 more	GConflicting classifications of pathogenicity
Select item 369520	NM_000063.6(C2):c.1778G>A (p.Arg593Gln)	C2, CFB (R379Q +4 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 356254	NM_000063.6(C2):c.1835G>A (p.Ser612Asn)	C2, CFB (S612N +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 356256	NM_000063.6(C2):c.1902+6G>C	C2, CFB	Single nucleotide variant (intron variant)	Macular degeneration +4 more	GBenign/Likely benign
Select item 356257	NM_000063.6(C2):c.1922T>C (p.Val641Ala)	C2, CFB (V641A +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +4 more	GBenign/Likely benign
Select item 356258	NM_000063.6(C2):c.2046A>G (p.Ala682=)	C2, CFB	Single nucleotide variant (synonymous variant)	Age related macular degeneration 14 +4 more	GBenign/Likely benign
Select item 356259	NM_000063.6(C2):c.2080-8T>C	C2, CFB	Single nucleotide variant (intron variant)	Complement component 2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 356265	NM_000063.6(C2):c.*304A>G	C2, CFB	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 904798	NM_001710.5(CFB):c.-199T>C	CFB	Single nucleotide variant	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
Select item 356266	NM_001710.5(CFB):c.-186delG	CFB	Deletion	Macular degeneration +1 more	GLikely benign
Select item 356267	NM_001710.6(CFB):c.-3G>A	CFB	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +3 more	GUncertain significance
Select item 1993265	NM_001710.6(CFB):c.15C>A (p.Leu5=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972195	NM_001710.6(CFB):c.18C>A (p.Ser6Arg)	CFB (S6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993673	NM_001710.6(CFB):c.24A>G (p.Gln8=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16077	NM_001710.6(CFB):c.26T>A (p.Leu9His)	C2, CFB (L9H)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +7 more	GBenign/Likely benign
Select item 1667892	NM_001710.6(CFB):c.39C>T (p.Pro13=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722524	NM_001710.6(CFB):c.48G>A (p.Leu16=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464683	NM_001710.6(CFB):c.52C>A (p.Leu18Ile)	CFB (L18I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397647	NM_001710.6(CFB):c.62G>A (p.Gly21Glu)	CFB (G21E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1375925	NM_001710.6(CFB):c.64G>A (p.Gly22Ser)	CFB (G22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989031	NM_001710.6(CFB):c.64+6C>T	CFB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2754714	NM_001710.6(CFB):c.64+11G>C	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133063	NM_001710.6(CFB):c.64+19C>G	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991268	NM_001710.6(CFB):c.65-10T>C	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961635	NM_001710.6(CFB):c.65-8C>G	CFB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1921287	NM_001710.6(CFB):c.65-8C>T	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 16076	NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	C2, CFB (R32W)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +7 more	GBenign/Likely benign
Select item 16075	NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	C2, CFB (R32Q)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +7 more	GBenign/Likely benign
Select item 1940636	NM_001710.6(CFB):c.97C>G (p.Pro33Ala)	CFB (P33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812266	NM_001710.6(CFB):c.110G>A (p.Cys37Tyr)	CFB (C37Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376133	NM_001710.6(CFB):c.118G>C (p.Glu40Gln)	CFB (E40Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 830012	NM_001710.6(CFB):c.118G>A (p.Glu40Lys)	CFB (E40K)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly	GUncertain significance
Select item 2439926	NM_001710.6(CFB):c.124del (p.Gly41_Val42insTer)	CFB	Deletion (nonsense)	Complement factor b deficiency	GUncertain significance
Select item 1515322	NM_001710.6(CFB):c.121G>C (p.Gly41Arg)	CFB (G41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969605	NM_001710.6(CFB):c.124G>T (p.Val42Leu)	CFB (V42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005751	NM_001710.6(CFB):c.138C>T (p.Gly46=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472432	NM_001710.6(CFB):c.139G>A (p.Gly47Ser)	CFB (G47S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512289	NM_001710.6(CFB):c.148C>T (p.Arg50Ter)	CFB (R50*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1422280	NM_001710.6(CFB):c.149G>A (p.Arg50Gln)	CFB (R50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714529	NM_001710.6(CFB):c.158A>C (p.Gln53Pro)	CFB (Q53P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992553	NM_001710.6(CFB):c.180C>T (p.Tyr60=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2177529	NM_001710.6(CFB):c.181G>C (p.Val61Leu)	CFB (V61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145572	NM_001710.6(CFB):c.181G>A (p.Val61Met)	CFB (V61M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721784	NM_001710.6(CFB):c.182T>A (p.Val61Glu)	CFB (V61E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933550	NM_001710.6(CFB):c.204G>A (p.Pro68=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597072	NM_001710.6(CFB):c.220C>A (p.Arg74Ser)	CFB (R74S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1382472	NM_001710.6(CFB):c.220C>T (p.Arg74Cys)	CFB (R74C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356268	NM_001710.6(CFB):c.221G>A (p.Arg74His)	C2, CFB (R74H)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 2179396	NM_001710.6(CFB):c.236C>T (p.Thr79Met)	CFB (T79M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383679	NM_001710.6(CFB):c.247A>G (p.Ser83Gly)	CFB (S83G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900083	NM_001710.6(CFB):c.257A>T (p.Lys86Met)	CFB (K86M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 906097	NM_001710.6(CFB):c.274A>T (p.Thr92Ser)	CFB (T92S)	Single nucleotide variant (missense variant)	Macular degeneration +3 more	GConflicting classifications of pathogenicity
Select item 1714264	NM_001710.6(CFB):c.277G>C (p.Val93Leu)	CFB (V93L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947311	NM_001710.6(CFB):c.280A>G (p.Arg94Gly)	CFB (R94G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465761	NM_001710.6(CFB):c.281G>C (p.Arg94Thr)	CFB (R94T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715839	NM_001710.6(CFB):c.291G>C (p.Glu97Asp)	CFB (E97D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356269	NM_001710.6(CFB):c.291G>A (p.Glu97=)	CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +2 more	GConflicting classifications of pathogenicity
Select item 3008748	NM_001710.6(CFB):c.298+18G>C	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803421	NM_001710.6(CFB):c.299-20C>G	CFB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1553537	NM_001710.6(CFB):c.299-16del	CFB	Deletion (intron variant)	not provided	GLikely benign
Select item 1553538	NM_001710.6(CFB):c.299-15C>A	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876360	NM_001710.6(CFB):c.299-13C>T	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649627	NM_001710.6(CFB):c.299-11C>G	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649056	NM_001710.6(CFB):c.299-10C>T	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1007177	NM_001710.6(CFB):c.301A>G (p.Ile101Val)	CFB (I101V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 356270	NM_001710.6(CFB):c.321C>T (p.His107=)	CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +2 more	GConflicting classifications of pathogenicity
Select item 3379647	NM_001710.6(CFB):c.322G>C (p.Asp108His)	CFB (D108H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693908	NM_001710.6(CFB):c.322G>A (p.Asp108Asn)	CFB (D108N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954731	NM_001710.6(CFB):c.333C>T (p.Asn111=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 907102	NM_001710.6(CFB):c.334G>C (p.Gly112Arg)	CFB (G112R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
Select item 1483543	NM_001710.6(CFB):c.346C>T (p.Pro116Ser)	CFB (P116S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347205	NM_001710.6(CFB):c.349C>T (p.Arg117Trp)	CFB (R117W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092039	NM_001710.6(CFB):c.353C>T (p.Ser118Phe)	CFB (S118F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398993	NM_001710.6(CFB):c.362A>G (p.Tyr121Cys)	CFB (Y121C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2767329	NM_001710.6(CFB):c.363C>T (p.Tyr121=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104800	NM_001710.6(CFB):c.378G>T (p.Glu126Asp)	CFB (E126D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857469	NM_001710.6(CFB):c.381C>A (p.Ile127=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632932	NM_001710.6(CFB):c.399C>T (p.Asp133=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134644	NM_001710.6(CFB):c.400G>A (p.Gly134Ser)	CFB (G134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356271	NM_001710.6(CFB):c.405C>T (p.Tyr135=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +4 more	GBenign/Likely benign
Select item 1347181	NM_001710.6(CFB):c.413G>A (p.Arg138Gln)	CFB (R138Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 829882	NM_001710.6(CFB):c.427C>T (p.Arg143Cys)	CFB (R143C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833292	NM_001710.6(CFB):c.438A>G (p.Gln146=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002480	NM_001710.6(CFB):c.444T>C (p.Asn148=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975239	NM_001710.6(CFB):c.448C>T (p.Arg150Ter)	CFB (R150*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 356272	NM_001710.6(CFB):c.450A>G (p.Arg150=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +4 more	GBenign
Select item 2714810	NM_001710.6(CFB):c.455G>A (p.Ser152Asn)	CFB (S152N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067935	NM_001710.6(CFB):c.458G>T (p.Gly153Val)	CFB (G153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570940	NM_001710.6(CFB):c.465A>G (p.Thr155=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934007	NM_001710.6(CFB):c.467C>T (p.Ala156Val)	CFB (A156V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566972	NM_001710.6(CFB):c.468G>A (p.Ala156=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1148958	NM_001710.6(CFB):c.480C>T (p.Asn160=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042279	NM_001710.6(CFB):c.484+7A>C	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928783	NM_001710.6(CFB):c.484+13C>T	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556768	NM_001710.6(CFB):c.484+15C>T	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862957	NM_001710.6(CFB):c.484+17C>A	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign

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