"Baylor Genetics"[submitter] AND "IQSEC2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 385473	NM_001111125.3(IQSEC2):c.3451+17C>T	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1 +1 more	GConflicting classifications of pathogenicity
Select item 689766	NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)	IQSEC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031093	NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu)	IQSEC2 (M957L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2442066	NM_001111125.3(IQSEC2):c.2846C>T (p.Ser949Phe)	IQSEC2 (S744F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 1032632	NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln)	IQSEC2 (R582Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031094	NM_001111125.3(IQSEC2):c.340G>A (p.Val114Met)	IQSEC2 (V114M)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance

ClinVar