"Center of Genomic medicine, Geneva, University Hospital of Geneva"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 237514	NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)	NF1 (R461*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +4 more	GPathogenic
Select item 585289	NM_001042492.3(NF1):c.1392+1G>C	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457545	NM_001042492.3(NF1):c.1721+1G>A	NF1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 527461	NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)	NF1 (L933P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 585292	NM_001042492.3(NF1):c.2827A>T (p.Lys943Ter)	NF1 (K943*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 437407	NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr)	NF1 (P1084T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 523625	NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)	NF1 (N1394H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343	NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)	NF1 (R1947* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +8 more	GPathogenic
Select item 547680	NM_001042492.3(NF1):c.6704+1G>T	NF1	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic
Select item 433188	NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr)	NF1 (H2637Y +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic