"Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916096	NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter)	MED13L (S1605*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 545069	NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs)	MED13L (V1304fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1701855	NM_015335.5(MED13L):c.3760_3761del (p.Leu1254fs)	MED13L (L1254fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 1321994	NM_015335.5(MED13L):c.2950C>T (p.Gln984Ter)	MED13L (Q984*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 1701878	NM_015335.5(MED13L):c.2570-1G>T	MED13L	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1064782	NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)	MED13L (Q691*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +1 more	GPathogenic
Select item 633535	NM_015335.5(MED13L):c.1109_1110del (p.Pro370fs)	MED13L (P370fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 545095	NM_015335.5(MED13L):c.626-2A>G	MED13L	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 545076	NM_015335.5(MED13L):c.73-1G>A	MED13L	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic

ClinVar