C1969562[trait identifier] AND "Seattle Children's Hospital Molecular - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679104	NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr)	MBD5 (A455T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1703533	GRCh37/hg19 2q22.3-23.1(chr2:148698834-148954778)	MBD5, ORC4	Copy number loss	Intellectual disability, autosomal dominant 1	GPathogenic