ClinVar for OMIM (Select 603089) - ClinVar

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	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 +1 more	GConflicting classifications of pathogenicity
Select item 1700251	NM_001276270.2(MBD4):c.1544-1G>T	MBD4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic