"Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita A - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 578995	NM_001042492.3(NF1):c.204+3_204+6del	NF1	Deletion (splice donor variant)	Neurofibromatosis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 265442	NM_001042492.3(NF1):c.204+1G>A	NF1	Single nucleotide variant (splice donor variant)	not specified +4 more	GPathogenic
Select item 187722	NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)	NF1 (R304*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic
Select item 404597	NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	NF1 (R416*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 527471	NM_001042492.3(NF1):c.1260+2T>G	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 354	NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	NF1 (Y489C)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +8 more	GPathogenic
Select item 1364775	NM_001042492.3(NF1):c.2326-1G>T	NF1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 665425	NM_001042492.3(NF1):c.2375T>A (p.Leu792His)	NF1 (L792H)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GLikely pathogenic
Select item 931332	NM_001042492.3(NF1):c.2506G>T (p.Glu836Ter)	NF1 (E836*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 68337	NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)	NF1 (R1204G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 30992	NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)	NF1 (L1390F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 423536	NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1744497	NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)	NF1 (N1660* +1 more)	Duplication (nonsense)	Neurofibromatosis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 484140	NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter)	NF1 (Y2482* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 2431731	NC_000017.11:g.(31324267_31327162)del	NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2431630	NC_000017.11:g.(31082496_31133240)dup	NF1	Duplication	Neurofibromatosis, type 1	GUncertain significance