ClinVar for PubMed (Select 16380919) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 653665	NM_001042492.3(NF1):c.581T>C (p.Leu194Pro)	NF1 (L194P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 484060	NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg)	NF1 (K1436R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GLikely pathogenic
Select item 431637	NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)	NF1 (K1423Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 404599	NM_001042492.3(NF1):c.6704+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 374108	NM_001042492.3(NF1):c.1721+3A>G	NF1 (Y575C)	Single nucleotide variant (missense variant +1 more)	Cafe au lait spots, multiple +6 more	GPathogenic
Select item 231417	NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser)	NF1 (N1430S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 68356	NM_001042492.3(NF1):c.581T>G (p.Leu194Arg)	NF1 (L194R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 68349	NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu)	NF1 (V1432L +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 68348	NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr)	NF1 (N1430T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 336	NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	NF1 (K1423E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic