"ITMI"[submitter] AND "AOPEP"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134300	NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro)	AOPEP, FANCC (T529P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 134299	NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)	FANCC, AOPEP (G472R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GConflicting classifications of pathogenicity
Select item 134297	NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	AOPEP, FANCC (Q465R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GBenign/Likely benign
Select item 134298	NM_000136.3(FANCC):c.1345G>A (p.Val449Met)	AOPEP, FANCC (V449M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 134307	NM_000136.3(FANCC):c.1329+181_1329+183del	FANCC, AOPEP (P465del)	Deletion (inframe_deletion +1 more)	Fanconi anemia complementation group C +1 more	GConflicting classifications of pathogenicity
Select item 134308	NM_000136.3(FANCC):c.1329+175C>T	AOPEP, FANCC (R463C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 134309	NM_000136.3(FANCC):c.1329+149G>A	AOPEP, FANCC (G454D)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134296	NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	AOPEP, FANCC (S386P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GConflicting classifications of pathogenicity
Select item 134295	NM_000136.3(FANCC):c.1063G>C (p.Asp355His)	AOPEP, FANCC (D355H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 127544	NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	AOPEP, FANCC (P211R)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 134306	NM_000136.3(FANCC):c.626G>T (p.Arg209Leu)	AOPEP, FANCC (R209L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134305	NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	FANCC, AOPEP (D195V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GConflicting classifications of pathogenicity