"Counsyl"[submitter] AND "LOC130009838"[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 554950	NC_000013.11:g.52011725G>A	LOC130009838, ATP7B	Single nucleotide variant (genic upstream transcript variant)	Wilson disease	GUncertain significance
Select item 555936	NM_000053.4(ATP7B):c.-436_-422del	ATP7B, LOC130009838	Deletion (5 prime UTR variant +2 more)	Wilson disease	GPathogenic
Select item 552816	NM_000053.3(ATP7B):c.-676_-659dup	ATP7B, LOC130009838	Duplication (genic upstream transcript variant)	Wilson disease	GUncertain significance

Format

Sort by

Choose Destination