"Laboratory of Medical Genetics, University of Torino"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802601	NM_001111125.3(IQSEC2):c.3613del (p.Leu1205fs)	IQSEC2 (L1205fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 1	GPathogenic
Select item 1345014	NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His)	IQSEC2 (R917H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +1 more	GConflicting classifications of pathogenicity