C1850386[trait identifier] AND "Service de genetique medicale, Pr. Lev - 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 590797	NC_000016.9:g.(81367334_81379355)_(81401689_81410823)del	GAN	Deletion	Giant axonal neuropathy 1	GLikely pathogenic
Select item 598941	NM_022041.4(GAN):c.890C>T (p.Pro297Leu)	GAN (P297L +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GLikely pathogenic