"GeneDx"[submitter] AND "LOC130063260"[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 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 1698103	NM_205767.3(MICOS13):c.1A>G (p.Met1Val)	LOC130063260, MICOS13 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance

Format

Sort by

Choose Destination