ClinVar for MedGen (Select 58149) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2775421	NM_001042492.3(NF1):c.6188T>A (p.Leu2063Ter)	NF1 (L2042* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis	GPathogenic
Select item 848498	NM_152594.3(SPRED1):c.395dup (p.Asn132fs)	SPRED1 (N132fs)	Duplication (frameshift variant)	Neurofibromatosis +1 more	GPathogenic
Select item 449423	NM_001042492.3(NF1):c.2409+1G>T	NF1	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic

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