"Baylor Genetics"[submitter] AND "NR2F1-AS1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441915	NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr)	NR2F1, NR2F1-AS1 (C89Y)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 216974	NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg)	NR2F1, NR2F1-AS1 (C128R)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic