"Laboratory of Molecular Genetics, CHU Rennes"[submitter] AND "IQSEC2" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374231	NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter)	IQSEC2 (Q952* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual deficiency +1 more	GLikely pathogenic
Select item 280241	NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)	IQSEC2 (Y64fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 1 +2 more	GPathogenic