"GeneDx"[submitter] AND "MIR6857"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58616	GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2	BMP15, CENPVL1 +77 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 60310	GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3	HSD17B10, HUWE1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 523210	NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)	MIR6857, SMC1A (R785H +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GConflicting classifications of pathogenicity

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