"Baylor Genetics"[submitter] AND "MED13"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582419	NM_005121.3(MED13):c.4256G>T (p.Gly1419Val)	MED13 (G1419V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 1028861	NM_005121.3(MED13):c.2126T>C (p.Phe709Ser)	MED13 (F709S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2582317	NM_005121.3(MED13):c.1523T>A (p.Phe508Tyr)	MED13 (F508Y)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2441979	NM_005121.3(MED13):c.700G>A (p.Gly234Ser)	MED13 (G234S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2441917	NM_005121.3(MED13):c.413_414dup (p.Ile139fs)	MED13 (I139fs)	Duplication (frameshift variant)	Intellectual developmental disorder 61	GLikely pathogenic
Select item 625757	GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614)	APPBP2, BCAS3 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic

ClinVar