ClinVar for MedGen (Select 816280) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2439926	NM_001710.6(CFB):c.124del (p.Gly41_Val42insTer)	CFB	Deletion (nonsense)	Complement factor b deficiency	GUncertain significance
Select item 1575611	NM_001710.6(CFB):c.1778+8C>T	CFB	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1209734	NM_001710.6(CFB):c.2140-74A>G	CFB	Single nucleotide variant (intron variant)	Complement factor b deficiency +2 more	GBenign
Select item 992561	NM_001710.6(CFB):c.658+7T>C	CFB	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 973630	NM_001710.6(CFB):c.1198A>G (p.Thr400Ala)	CFB (T400A)	Single nucleotide variant (missense variant)	Complement factor b deficiency	GUncertain significance
Select item 829990	NM_001710.6(CFB):c.1374G>A (p.Met458Ile)	CFB (M458I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +4 more	GUncertain significance
Select item 356295	NM_001710.6(CFB):c.2100C>T (p.Gly700=)	CFB	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 356284	NM_001710.6(CFB):c.1137C>T (p.Arg379=)	C2, CFB	Single nucleotide variant (synonymous variant)	CFB-related disorder +9 more	GBenign/Likely benign
Select item 356272	NM_001710.6(CFB):c.450A>G (p.Arg150=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement factor b deficiency +4 more	GBenign
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 225314	NM_001710.6(CFB):c.1697A>C (p.Glu566Ala)	CFB (E566A)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 225313	NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)	C2, CFB (K533R)	Single nucleotide variant (missense variant)	Age related macular degeneration 14 +7 more	GBenign/Likely benign
Select item 92247	NM_001710.6(CFB):c.1895_1898del (p.Phe632fs)	CFB (F632fs)	Deletion (frameshift variant)	Complement factor b deficiency	GPathogenic
Select item 92246	NM_001710.6(CFB):c.766C>T (p.Gln256Ter)	CFB (Q256*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 16077	NM_001710.6(CFB):c.26T>A (p.Leu9His)	C2, CFB (L9H)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 16076	NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	C2, CFB (R32W)	Single nucleotide variant (missense variant)	Complement factor b deficiency +8 more	GBenign/Likely benign