ClinVar for MedGen (Select 416515) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14019	NM_006179.5(NTF4):c.617G>A (p.Arg206Gln)	NTF4 (R206Q)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, O	GPathogenic
Select item 14018	NM_006179.5(NTF4):c.616C>T (p.Arg206Trp)	NTF4 (R206W)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, O	GConflicting classifications of pathogenicity
Select item 14017	NM_006179.5(NTF4):c.263C>T (p.Ala88Val)	NTF4 (A88V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +1 more	GLikely benign

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