"Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2626899	NM_021120.4(DLG3):c.116dup (p.Tyr39Ter)	DLG3 (Y39*)	Duplication (nonsense)	Intellectual disability, X-linked 90	GLikely pathogenic
Select item 817679	NM_021120.4(DLG3):c.159del (p.Tyr54fs)	DLG3 (Y54fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 90 +1 more	GPathogenic/Likely pathogenic
Select item 1331521	NM_021120.4(DLG3):c.390G>C (p.Glu130Asp)	DLG3 (E130D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334574	NM_021120.4(DLG3):c.1447C>T (p.Gln483Ter)	DLG3 (Q146* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, X-linked 90	GLikely pathogenic
Select item 2505246	NM_021120.4(DLG3):c.1871-10C>T	DLG3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1334558	NM_021120.4(DLG3):c.2243T>C (p.Ile748Thr)	DLG3 (I297T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar