C0027831[trait identifier] AND "Dr. med. U. Finckh, Human Genetics, Eu - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586954	NM_001042492.3(NF1):c.122A>T (p.Glu41Val)	NF1 (E41V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2581014	NM_001042492.3(NF1):c.480-8_480-2delinsTTTTAT	NF1	Indel (splice acceptor variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2581035	NM_001042492.3(NF1):c.1312G>T (p.Glu438Ter)	NF1 (E438*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 2580960	NM_001042492.3(NF1):c.3695_3696delinsA (p.Pro1232fs)	NF1 (P1232fs)	Indel (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2580950	NM_001042492.3(NF1):c.4953C>G (p.Ser1651Arg)	NF1 (S1630R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +1 more	GUncertain significance
Select item 2580965	NM_001042492.3(NF1):c.6547del (p.Arg2183fs)	NF1 (R2162fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2505556	NM_001042492.3(NF1):c.7165G>T (p.Ala2389Ser)	NF1 (A2368S +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely benign

ClinVar