"GeneDx"[submitter] AND "LOC126863316"[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 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	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 145170	GRCh38/hg38 Xq25(chrX:123859097-128717147)x3	ACTRT1, DCAF12L1 +19 more	Copy number gain	See cases	GPathogenic
Select item 1275558	NM_001163278.2(TENM1):c.5007C>A (p.Thr1669=)	LOC126863316, TENM1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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