"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978905	NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser)	MBD5 (P224S)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 521004	NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)	MBD5 (R325*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 978957	NM_001378120.1(MBD5):c.1379_1389del (p.Ser460fs)	MBD5 (S460fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978955	NM_001378120.1(MBD5):c.3079A>G (p.Thr1027Ala)	MBD5 (T1027A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 978906	NM_001378120.1(MBD5):c.3987del (p.Ser1330fs)	MBD5 (S1097fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 978956	NM_001378120.1(MBD5):c.4648del (p.Gln1550fs)	MBD5 (Q1317fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic

ClinVar