"GenomeConnect, ClinGen"[submitter] AND "NF1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 141369	NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)	NF1 (V530I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 546244	NM_001042492.3(NF1):c.1801_1803del (p.Arg601del)	NF1 (R601del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 185762	NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys)	LOC106113036, NF1 (R652C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 68341	NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	NF1 (R1276Q)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 565475	NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)	NF1 (G1498E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 404515	NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)	NF1 (R1590W +1 more)	Single nucleotide variant (missense variant)	NF1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 918018	NM_001042492.3(NF1):c.6024T>C (p.Asp2008=)	NF1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 230467	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1 (R2496* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +9 more	GPathogenic