"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129932678" - 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 295979	NM_000447.2(PSEN2):c.-400C>T	LOC129932678, PSEN2	Single nucleotide variant	Early-onset autosomal dominant Alzheimer disease +1 more	GLikely benign
Select item 295980	NM_000447.3(PSEN2):c.-356A>G	LOC129932678, PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GBenign