"GeneDx"[submitter] AND "LOC130068796"[gene] - ClinVar

	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 57991	GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1	AFF2, ATP11C +135 more	Copy number loss	See cases	GPathogenic
Select item 60396	GRCh38/hg38 Xq28(chrX:150449408-150750615)x3	LOC130068796, LOC130068797 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1703406	NC_000023.11:g.150568509C>T	LOC130068796, MTM1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 388221	NM_000252.3(MTM1):c.-48G>C	LOC130068796, MTM1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 389855	NM_000252.3(MTM1):c.-24G>T	LOC130068796, MTM1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1691156	NM_000252.3(MTM1):c.-11+51C>T	LOC130068796, MTM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

ClinVar