C0027831[trait identifier] AND "Human Genetics Bochum, Ruhr University - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1801696	NM_001042492.3(NF1):c.730+2T>C	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1073116	NM_001042492.3(NF1):c.731-1G>C	NF1	Single nucleotide variant (splice acceptor variant)	Juvenile myelomonocytic leukemia +2 more	GPathogenic
Select item 457537	NM_001042492.3(NF1):c.1527+5G>C	NF1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity OUncertain significance
Select item 2583132	NM_001042492.3(NF1):c.2326-6_2338del	NF1	Deletion (splice acceptor variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 457623	NM_001042492.3(NF1):c.3114-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +4 more	GLikely pathogenic
Select item 996375	NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs)	NF1 (D1116fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 428997	NM_001042492.3(NF1):c.5609+1G>A	NF1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 343	NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)	NF1 (R1947* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +10 more	GPathogenic OLikely oncogenic

ClinVar