"Institute of Human Genetics, University of Goettingen"[submitter] AND - 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 2692412	NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)	NR2F1, NR2F1-AS1 (V114L)	Single nucleotide variant (non-coding transcript variant +1 more)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 984969	NM_005654.6(NR2F1):c.1097G>A (p.Arg366His)	NR2F1 (R366H)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity