"MVZ Medizinische Genetik Mainz"[submitter] AND "CFI"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236175	NM_000204.5(CFI):c.1576G>T (p.Gly526Ter)	CFI (G323* +4 more)	Single nucleotide variant (nonsense +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly	GLikely pathogenic
Select item 3235979	NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)	CFI (D321G +4 more)	Single nucleotide variant (missense variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly	GLikely pathogenic
Select item 3236801	NM_000204.5(CFI):c.1487C>T (p.Ser496Phe)	CFI (S293F +4 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly	GLikely pathogenic
Select item 3066155	NM_000204.5(CFI):c.1279C>A (p.Gln427Lys)	CFI (Q224K +4 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly	GUncertain significance
Select item 2577424	NM_000204.5(CFI):c.1149-1G>A	CFI	Single nucleotide variant (splice acceptor variant)	Atypical hemolytic-uremic syndrome with I factor anomaly	GPathogenic
Select item 3066223	NM_000204.5(CFI):c.1043T>C (p.Leu348Pro)	CFI (L145P +4 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly	GUncertain significance
Select item 3066109	NM_000204.5(CFI):c.771A>G (p.Lys257=)	CFI	Single nucleotide variant (synonymous variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly	GUncertain significance
Select item 3061879	NM_000204.5(CFI):c.79del (p.Asp27fs)	CFI (D27fs)	Deletion (intron variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly	GPathogenic
Select item 3235996	NM_000204.5(CFI):c.-4C>T	CFI	Single nucleotide variant (5 prime UTR variant +1 more)	Factor I deficiency	GUncertain significance