"GeneDx"[submitter] AND "LOC126863317"[gene] - ClinVar - NCBI

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Items: 4

	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 58669	GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2	AIFM1, APLN +127 more	Copy number gain	See cases	GPathogenic
Select item 673080	NM_004208.4(AIFM1):c.605+262T>G	AIFM1, LOC126863317 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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