"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "CLN3"[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 318720	NM_001042432.2(CLN3):c.837+5G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more	GConflicting classifications of pathogenicity
Select item 2584852	NM_001042432.2(CLN3):c.222+3A>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3	GUncertain significance