"GeneDx"[submitter] AND "C2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699762	NM_000063.6(C2):c.613C>T (p.Arg205Cys)	C2 (R176C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 50634	NM_000063.6(C2):c.841_849+19del	C2 (V281fs)	Deletion (frameshift variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 12130	NM_000063.6(C2):c.954G>C (p.Glu318Asp)	C2, C2-AS1 (E318D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2779983	NM_000063.6(C2):c.1433C>A (p.Thr478Lys)	C2 (T232K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 356273	NM_001710.6(CFB):c.504G>A (p.Pro168=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +4 more	GBenign/Likely benign
Select item 356281	NM_001710.6(CFB):c.858C>T (p.Phe286=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +5 more	GBenign/Likely benign
Select item 356287	NM_001710.6(CFB):c.1365C>T (p.Val455=)	C2, CFB	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +4 more	GBenign/Likely benign
Select item 225313	NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)	C2, CFB (K533R)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +7 more	GBenign/Likely benign