ClinVar for Gene (Select 629) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381003	NM_001710.6(CFB):c.888_891del (p.Ile297fs)	CFB (I297fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3379650	NM_001710.6(CFB):c.1739T>C (p.Ile580Thr)	CFB (I580T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379649	NM_001710.6(CFB):c.1118C>G (p.Pro373Arg)	CFB (P373R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379648	NM_001710.6(CFB):c.668T>C (p.Met223Thr)	CFB (M223T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3371326	NM_001710.6(CFB):c.1568C>T (p.Thr523Ile)	CFB (T523I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368334	NM_001710.6(CFB):c.1816G>A (p.Ala606Thr)	CFB (A606T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338960	NM_001710.6(CFB):c.1534A>G (p.Met512Val)	CFB (M512V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266576	NM_001710.6(CFB):c.1940T>C (p.Ile647Thr)	CFB (I647T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3266575	NM_001710.6(CFB):c.1649T>C (p.Ile550Thr)	CFB (I550T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266574	NM_001710.6(CFB):c.1136G>A (p.Arg379His)	CFB (R379H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3236135	NM_001710.6(CFB):c.713T>G (p.Leu238Arg)	CFB (L238R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly	GUncertain significance
Select item 3143775	NM_001710.6(CFB):c.611C>T (p.Thr204Met)	CFB (T204M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143774	NM_001710.6(CFB):c.485C>T (p.Ala162Val)	CFB (A162V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143773	NM_001710.6(CFB):c.1480C>A (p.Pro494Thr)	CFB (P494T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143772	NM_001710.6(CFB):c.1291G>A (p.Gly431Arg)	CFB (G431R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066149	NM_001710.6(CFB):c.898-2A>C	CFB	Single nucleotide variant (splice acceptor variant)	Complement factor b deficiency	GLikely pathogenic
Select item 3033059	NM_001710.6(CFB):c.577C>T (p.Arg193Trp)	CFB (R193W)	Single nucleotide variant (missense variant)	CFB-related disorder	GUncertain significance
Select item 3021359	NM_001710.6(CFB):c.1464C>T (p.Thr488=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020980	NM_001710.6(CFB):c.2100C>A (p.Gly700=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017293	NM_001710.6(CFB):c.636C>T (p.Ser212=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008748	NM_001710.6(CFB):c.298+18G>C	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008459	NM_001710.6(CFB):c.2089G>C (p.Gly697Arg)	CFB (G697R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007741	NM_001710.6(CFB):c.1113C>T (p.Asp371=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007614	NM_001710.6(CFB):c.1161G>C (p.Met387Ile)	CFB (M387I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006872	NM_001710.6(CFB):c.1975_1976del (p.Asp659fs)	CFB (D659fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3006699	NM_001710.6(CFB):c.1813C>T (p.Arg605Ter)	CFB (R605*)	Single nucleotide variant (nonsense)	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 3005673	NM_001710.6(CFB):c.783C>T (p.Ile261=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003900	NM_001710.6(CFB):c.1746C>G (p.Leu582=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999977	NM_001710.6(CFB):c.608G>T (p.Arg203Leu)	CFB (R203L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999559	NM_001710.6(CFB):c.1195A>G (p.Ile399Val)	CFB (I399V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999518	NM_001710.6(CFB):c.1384G>A (p.Glu462Lys)	CFB (E462K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998856	NM_001710.6(CFB):c.2138A>G (p.Gln713Arg)	CFB (Q713R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998381	NM_001710.6(CFB):c.851G>A (p.Ser284Asn)	CFB (S284N)	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 2991268	NM_001710.6(CFB):c.65-10T>C	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990544	NM_001710.6(CFB):c.2250C>T (p.Pro750=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990494	NM_001710.6(CFB):c.1324T>C (p.Leu442=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989031	NM_001710.6(CFB):c.64+6C>T	CFB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2987838	NM_001710.6(CFB):c.501C>T (p.Asn167=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986040	NM_001710.6(CFB):c.801C>T (p.Gly267=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984510	NM_001710.6(CFB):c.897+7T>C	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983954	NM_001710.6(CFB):c.1339G>T (p.Asp447Tyr)	CFB (D447Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981112	NM_001710.6(CFB):c.1957-8C>T	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980154	NM_001710.6(CFB):c.1407C>T (p.Ile469=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2977085	NM_001710.6(CFB):c.2140-4G>A	CFB	Single nucleotide variant (intron 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 2972067	NM_001710.6(CFB):c.1659C>T (p.Val553=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2968444	NM_001710.6(CFB):c.897+11_897+13del	CFB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2967346	NM_001710.6(CFB):c.1168+18T>C	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964903	NM_001710.6(CFB):c.758C>A (p.Pro253Gln)	CFB (P253Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964375	NM_001710.6(CFB):c.544C>T (p.Arg182Cys)	CFB (R182C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960564	NM_001710.6(CFB):c.1931A>T (p.Glu644Val)	CFB (E644V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958086	NM_001710.6(CFB):c.1625-6C>A	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956425	NM_001710.6(CFB):c.1169-18G>A	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956077	NM_001710.6(CFB):c.1507-3del	CFB	Deletion (intron variant)	not provided	GBenign
Select item 2955658	NM_001710.6(CFB):c.1814G>A (p.Arg605Gln)	CFB (R605Q)	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 2920175	NM_001710.6(CFB):c.1008G>A (p.Thr336=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908632	NM_001710.6(CFB):c.2260G>A (p.Glu754Lys)	CFB (E754K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906023	NM_001710.6(CFB):c.2129G>A (p.Arg710His)	CFB (R710H)	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 2894991	NM_001710.6(CFB):c.1005C>G (p.Val335=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892985	NM_001710.6(CFB):c.605G>A (p.Arg202Gln)	CFB (R202Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883600	NM_001710.6(CFB):c.641C>G (p.Thr214Arg)	CFB (T214R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879851	NM_001710.6(CFB):c.1636C>T (p.Arg546Trp)	CFB (R546W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877975	NM_001710.6(CFB):c.1847A>G (p.Gln616Arg)	CFB (Q616R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876360	NM_001710.6(CFB):c.299-13C>T	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875094	NM_001710.6(CFB):c.823C>G (p.Leu275Val)	CFB (L275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875042	NM_001710.6(CFB):c.1409-10_1409-8del	CFB	Deletion (intron variant)	not provided	GUncertain significance
Select item 2866211	NM_001710.6(CFB):c.1164T>C (p.Thr388=)	CFB	Single nucleotide variant (synonymous 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
Select item 2860552	NM_001710.6(CFB):c.1522C>A (p.His508Asn)	CFB (H508N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859295	NM_001710.6(CFB):c.2116C>T (p.His706Tyr)	CFB (H706Y)	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 2843161	NM_001710.6(CFB):c.1462A>G (p.Thr488Ala)	CFB (T488A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838921	NM_001710.6(CFB):c.1788T>C (p.Cys596=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833292	NM_001710.6(CFB):c.438A>G (p.Gln146=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819674	NM_001710.6(CFB):c.1630_1632del (p.Glu544del)	CFB (E544del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2816470	NM_001710.6(CFB):c.1400A>T (p.Gln467Leu)	CFB (Q467L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815907	NM_001710.6(CFB):c.2033C>G (p.Pro678Arg)	CFB (P678R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814559	NM_001710.6(CFB):c.728A>T (p.Glu243Val)	CFB (E243V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814204	NM_001710.6(CFB):c.882C>T (p.Val294=)	CFB	Single nucleotide variant (synonymous 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 2812006	NM_001710.6(CFB):c.1165G>C (p.Asp389His)	CFB (D389H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807836	NM_001710.6(CFB):c.2215C>T (p.Arg739Ter)	CFB (R739*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2806318	NM_001710.6(CFB):c.1271-5C>G	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 2802794	NM_001710.6(CFB):c.1995C>A (p.Gly665=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792409	NM_001710.6(CFB):c.607C>T (p.Arg203Ter)	CFB (R203*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2788796	NM_001710.6(CFB):c.2140-1G>C	CFB	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2788109	NM_001710.6(CFB):c.2167del (p.Asp723fs)	CFB (D723fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2786971	NM_001710.6(CFB):c.1647G>C (p.Glu549Asp)	CFB (E549D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781647	NM_001710.6(CFB):c.1037-13T>C	CFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777471	NM_001710.6(CFB):c.1776C>T (p.Ile592=)	CFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775790	NM_001710.6(CFB):c.1018A>C (p.Asn340His)	CFB (N340H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775570	NM_001710.6(CFB):c.1848G>C (p.Gln616His)	CFB (Q616H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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