"PreventionGenetics, part of Exact Sciences"[submitter] AND "CFI"[gene - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347146	NM_000204.5(CFI):c.1657C>T (p.Pro553Ser)	CFI (P553S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 252469	NM_000204.5(CFI):c.1534+5G>T	CFI	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 2631786	NM_000204.5(CFI):c.1458G>A (p.Trp486Ter)	CFI (W486* +4 more)	Single nucleotide variant (nonsense +1 more)	CFI-related disorder	GLikely pathogenic
Select item 12121	NM_000204.5(CFI):c.1420C>T (p.Arg474Ter)	CFI (R474* +4 more)	Single nucleotide variant (nonsense +1 more)	CFI-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 347154	NM_000204.5(CFI):c.1410T>C (p.Ser470=)	CFI	Single nucleotide variant (synonymous variant +1 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +2 more	GBenign/Likely benign
Select item 3044165	NM_000204.5(CFI):c.1298T>C (p.Ile433Thr)	CFI (I230T +4 more)	Single nucleotide variant (missense variant +1 more)	CFI-related disorder	GUncertain significance
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 280145	NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)	CFI (W386fs +4 more)	Microsatellite (frameshift variant +1 more)	CFI-related disorder +4 more	GPathogenic
Select item 2886217	NM_000204.5(CFI):c.1149-10del	CFI	Deletion (intron variant)	CFI-related disorder +1 more	GBenign/Likely benign
Select item 2632910	NM_000204.5(CFI):c.1146C>T (p.Leu382=)	CFI	Single nucleotide variant (synonymous variant +1 more)	CFI-related disorder	GUncertain significance
Select item 3061740	NM_000204.5(CFI):c.1045-5T>C	CFI	Single nucleotide variant (intron variant)	CFI-related disorder	GLikely benign
Select item 3048766	NM_000204.5(CFI):c.884-147T>A	CFI	Single nucleotide variant (intron variant)	CFI-related disorder	GLikely benign
Select item 65580	NM_000204.5(CFI):c.782G>A (p.Gly261Asp)	CFI (G261D +1 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome +6 more	GLikely benign
Select item 902336	NM_000204.5(CFI):c.781G>A (p.Gly261Ser)	CFI (G58S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1451295	NM_000204.5(CFI):c.772G>A (p.Ala258Thr)	CFI (A258T +1 more)	Single nucleotide variant (missense variant +1 more)	CFI-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 790553	NM_000204.5(CFI):c.548A>G (p.His183Arg)	CFI (H183R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 709211	NM_000204.5(CFI):c.482+8C>T	CFI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1979180	NM_000204.5(CFI):c.457G>A (p.Ala153Thr)	CFI (A153T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3037561	NM_000204.5(CFI):c.161G>A (p.Cys54Tyr)	CFI (C54Y)	Single nucleotide variant (missense variant +2 more)	CFI-related disorder	GUncertain significance