C5774186[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700254	NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter)	MBD4 (L563* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1700251	NM_001276270.2(MBD4):c.1544-1G>T	MBD4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1338644	NM_001276270.2(MBD4):c.939dup (p.Glu314fs)	MBD4 (E314fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1700255	NM_001276270.2(MBD4):c.612_615del (p.Ser205fs)	MBD4 (S205fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1700253	NM_001276270.2(MBD4):c.217C>T (p.Gln73Ter)	MBD4 (Q73*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1700250	NM_003925.2:c.1699_1701del	MBD4	Deletion	Tumor predisposition syndrome 2	GPathogenic

ClinVar