"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930677	NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val)	MED13L (L1795V)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 930384	NM_015335.5(MED13L):c.4622del (p.Thr1541fs)	MED13L (T1541fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 932131	NM_015335.5(MED13L):c.2061G>T (p.Gln687His)	MED13L (Q687H)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 523512	NM_015335.5(MED13L):c.1971del (p.Asp657fs)	MED13L (D657fs)	Deletion (frameshift variant)	Motor delay +3 more	GPathogenic
Select item 931088	NM_015335.5(MED13L):c.1175+20T>C	MED13L	Single nucleotide variant (intron variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 931710	NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)	MED13L (K249*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic

ClinVar