"Genetic Services Laboratory, University of Chicago"[submitter] AND "C - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347144	NM_000204.5(CFI):c.*7G>T	CFI	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 347147	NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)	CFI (E548Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 347157	NM_000204.5(CFI):c.1246A>C (p.Ile416Leu)	CFI (I416L +4 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GConflicting classifications of pathogenicity
Select item 1337032	NM_000204.5(CFI):c.1032G>A (p.Lys344=)	CFI	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 347164	NM_000204.5(CFI):c.905-3T>C	CFI	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1337881	NM_000204.5(CFI):c.616T>A (p.Tyr206Asn)	CFI (Y206N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 347168	NM_000204.5(CFI):c.608C>T (p.Thr203Ile)	CFI (T203I)	Single nucleotide variant (missense variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GConflicting classifications of pathogenicity
Select item 347174	NM_000204.5(CFI):c.315A>T (p.Thr105=)	CFI	Single nucleotide variant (synonymous variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +2 more	GBenign