C3810363[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438608	NM_005654.6(NR2F1):c.257G>T (p.Cys86Phe)	NR2F1, NR2F1-AS1 (C86F)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GUncertain significance
Select item 438609	NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro)	NR2F1 (L372P)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic