"GeneDx"[submitter] AND "LOC129929046"[gene] - ClinVar - NCBI

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Items: 5

	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 1328810	NC_000023.11:g.134460088T>C	HPRT1, LOC107032760 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1200824	NC_000023.11:g.134460107G>A	HPRT1, LOC107032760 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1268384	NC_000023.11:g.134460156C>G	HPRT1, LOC107032760 +1 more	Single nucleotide variant	not provided	GBenign

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