"GeneDx"[submitter] AND "LOC130068744"[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 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 1277542	NM_173470.3(MMGT1):c.-299G>A	LOC130068744, MMGT1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

Format

Sort by

Choose Destination