ClinVar for MedGen (Select 138056) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1077147	NM_021926.4(ALX4):c.2T>C (p.Met1Thr)	ALX4 (M1T)	Single nucleotide variant (missense variant +1 more)	Optic nerve glioma	GUncertain significance
Select item 590843	NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs)	NF1 (W784fs)	Indel (frameshift variant)	Optic nerve glioma	GPathogenic
Select item 439997	NM_001042492.3(NF1):c.4577+1G>A	NF1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 374108	NM_001042492.3(NF1):c.1721+3A>G	NF1 (Y575C)	Single nucleotide variant (missense variant +1 more)	Optic nerve glioma +6 more	GPathogenic
Select item 188280	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1 (R681*)	Single nucleotide variant (nonsense)	Optic nerve glioma +7 more	GPathogenic
Select item 336	NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	NF1 (K1423E +1 more)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic

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