C2752038[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 908037	NM_000063.6(C2):c.1577A>G (p.Lys526Arg)	C2, CFB (K312R +4 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 14 +4 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 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 16077	NM_001710.6(CFB):c.26T>A (p.Leu9His)	C2, CFB (L9H)	Single nucleotide variant (missense variant)	Complement factor b deficiency +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)	not provided +8 more	GBenign/Likely benign
Select item 16075	NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	C2, CFB (R32Q)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 356268	NM_001710.6(CFB):c.221G>A (p.Arg74His)	C2, CFB (R74H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 906097	NM_001710.6(CFB):c.274A>T (p.Thr92Ser)	CFB (T92S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +3 more	GConflicting classifications of pathogenicity
Select item 356269	NM_001710.6(CFB):c.291G>A (p.Glu97=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +3 more	GConflicting classifications of pathogenicity
Select item 356270	NM_001710.6(CFB):c.321C>T (p.His107=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +2 more	GConflicting classifications of pathogenicity
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 356271	NM_001710.6(CFB):c.405C>T (p.Tyr135=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +5 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 356273	NM_001710.6(CFB):c.504G>A (p.Pro168=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +5 more	GBenign/Likely benign
Select item 356274	NM_001710.6(CFB):c.600C>T (p.Ser200=)	CFB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 356275	NM_001710.6(CFB):c.604C>T (p.Arg202Trp)	CFB (R202W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 356276	NM_001710.6(CFB):c.656A>T (p.Gln219Leu)	CFB (Q219L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
Select item 356277	NM_001710.6(CFB):c.672C>T (p.Tyr224=)	C2, CFB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 356278	NM_001710.6(CFB):c.720G>A (p.Glu240=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GConflicting classifications of pathogenicity
Select item 356279	NM_001710.6(CFB):c.724A>C (p.Ile242Leu)	CFB (I242L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 356280	NM_001710.6(CFB):c.754G>A (p.Gly252Ser)	C2, CFB (G252S)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 906166	NM_001710.6(CFB):c.784G>A (p.Val262Ile)	CFB (V262I)	Single nucleotide variant (missense variant)	Macular degeneration +2 more	GConflicting classifications of pathogenicity
Select item 356281	NM_001710.6(CFB):c.858C>T (p.Phe286=)	C2, CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +5 more	GBenign/Likely benign
Select item 906167	NM_001710.6(CFB):c.917A>G (p.Lys306Arg)	CFB (K306R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +2 more	GUncertain significance
Select item 356283	NM_001710.6(CFB):c.1037-10C>T	CFB	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +2 more	GConflicting classifications of pathogenicity
Select item 356282	NM_001710.6(CFB):c.1037-10C>G	CFB	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +3 more	GBenign/Likely benign
Select item 356284	NM_001710.6(CFB):c.1137C>T (p.Arg379=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +9 more	GBenign/Likely benign
Select item 356285	NM_001710.6(CFB):c.1143C>T (p.Arg381=)	C2, CFB	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 356286	NM_001710.6(CFB):c.1227A>G (p.Leu409=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
Select item 903818	NM_001710.6(CFB):c.1290C>T (p.Val430=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +2 more	GConflicting classifications of pathogenicity
Select item 356287	NM_001710.6(CFB):c.1365C>T (p.Val455=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +5 more	GBenign/Likely benign
Select item 356288	NM_001710.6(CFB):c.1407C>G (p.Ile469Met)	CFB (I469M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 356290	NM_001710.6(CFB):c.1524C>T (p.His508=)	C2, CFB	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 356289	NM_001710.6(CFB):c.1524C>A (p.His508Gln)	CFB (H508Q)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
Select item 905719	NM_001710.6(CFB):c.1548G>A (p.Val516=)	CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +2 more	GBenign/Likely benign
Select item 356291	NM_001710.6(CFB):c.1593T>C (p.Asp531=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
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 356292	NM_001710.6(CFB):c.1693A>G (p.Lys565Glu)	CFB (K565E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +4 more	GBenign
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 906231	NM_001710.6(CFB):c.1762T>C (p.Tyr588His)	CFB (Y588H)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +2 more	GUncertain significance
Select item 356293	NM_001710.6(CFB):c.1778+9G>A	CFB	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +3 more	GBenign/Likely benign
Select item 907232	NM_001710.6(CFB):c.1803G>A (p.Glu601=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
Select item 907233	NM_001710.6(CFB):c.1838C>T (p.Thr613Ile)	CFB (T613I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +3 more	GConflicting classifications of pathogenicity
Select item 356294	NM_001710.6(CFB):c.1889C>T (p.Ala630Val)	CFB (A630V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
Select item 903887	NM_001710.6(CFB):c.1953T>G (p.Asp651Glu)	CFB (D651E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 903888	NM_001710.6(CFB):c.1956+10G>A	CFB	Single nucleotide variant (intron variant)	Macular degeneration +1 more	GConflicting classifications of pathogenicity
Select item 903889	NM_001710.6(CFB):c.2069C>T (p.Ala690Val)	CFB (A690V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
Select item 356295	NM_001710.6(CFB):c.2100C>T (p.Gly700=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +5 more	GBenign/Likely benign
Select item 356296	NM_001710.6(CFB):c.*16A>T	CFB	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GUncertain significance
Select item 356297	NM_001710.6(CFB):c.*23C>T	CFB	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 356298	NM_001710.6(CFB):c.*47C>T	CFB	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51