"Department of Medical and Surgical Sciences, University of Bologna"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 695123	NM_001134382.3(IQSEC1):c.962G>A (p.Arg321Gln)	IQSEC1 (R321Q +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with short stature and behavioral abnormalities	GLikely pathogenic
Select item 2692364	NM_001376938.2(IQSEC1):c.212G>A (p.Gly71Asp)	IQSEC1 (G71D)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with short stature and behavioral abnormalities	GUncertain significance