C3810363[trait identifier] AND "Molecular Genetics Lab, CHRU Brest"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024254	NM_005654.6(NR2F1):c.453G>A (p.Met151Ile)	NR2F1, NR2F1-AS1 (M151I)	Single nucleotide variant (non-coding transcript variant +1 more)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 3024259	NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)	NR2F1 (R216C +1 more)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic