"Fulgent Genetics, Fulgent Genetics"[submitter] AND "IQSEC2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1052061	NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile)	IQSEC2 (T1225I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 382734	NM_001111125.3(IQSEC2):c.2297+14G>A	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1 +1 more	GBenign
Select item 471266	NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys)	IQSEC2 (E685K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GConflicting classifications of pathogenicity
Select item 384172	NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=)	IQSEC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 681998	NM_001111125.3(IQSEC2):c.737+10291G>A	IQSEC2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 418260	NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu)	IQSEC2 (P199L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +3 more	GConflicting classifications of pathogenicity

ClinVar