C0338508[trait identifier] AND "Institute of Human Genetics Munich, Kl - 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 975946	NM_130837.3(OPA1):c.1734dup (p.Gln579fs)	OPA1 (Q400fs +9 more)	Duplication (frameshift variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 871026	NM_130837.3(OPA1):c.2779-9A>G	OPA1	Single nucleotide variant (intron variant)	Autosomal dominant optic atrophy classic form +2 more	GPathogenic/Likely pathogenic
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	Optic nerve dysplasia +8 more	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination