"Myriad Genetics, Inc."[submitter] AND "FANCC"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12047	NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	FANCC, AOPEP (R548*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 984287	NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter)	AOPEP, FANCC (G362*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1724483	NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)	AOPEP, FANCC (Y343*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 984288	NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter)	AOPEP, FANCC (Y343*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 265137	NM_000136.3(FANCC):c.996+1G>T	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 189053	NM_000136.3(FANCC):c.844-1G>C	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1724060	NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)	AOPEP, FANCC (C274*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 984289	NM_000136.3(FANCC):c.793G>T (p.Glu265Ter)	AOPEP, FANCC (E265*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1724967	NM_000136.3(FANCC):c.683dup (p.Leu228fs)	AOPEP, FANCC (L228fs)	Duplication (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 984290	NM_000136.3(FANCC):c.661G>T (p.Glu221Ter)	AOPEP, FANCC (E221*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1726201	NM_000136.3(FANCC):c.560del (p.Cys187fs)	AOPEP, FANCC (C187fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 984291	NM_000136.3(FANCC):c.464T>A (p.Leu155Ter)	FANCC (L155*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 12045	NM_000136.3(FANCC):c.456+4A>T	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GPathogenic
Select item 983716	NM_000136.3(FANCC):c.353T>A (p.Leu118Ter)	FANCC (L118*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 983717	NM_000136.3(FANCC):c.323C>A (p.Ser108Ter)	FANCC (S108*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1724718	NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)	FANCC (G106fs)	Insertion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1725275	NM_000136.3(FANCC):c.282_283del (p.Cys95fs)	FANCC (C95fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 983718	NM_000136.3(FANCC):c.275G>A (p.Trp92Ter)	FANCC (W92*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1724510	NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)	FANCC (Y83*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1725927	NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)	FANCC (C75*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 12049	NM_000136.3(FANCC):c.67del (p.Asp23fs)	FANCC (D23fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C +3 more	GPathogenic

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Items: 21