"HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Bi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687896	NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)	THOC2 (S789N)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic

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