"Baylor Genetics"[submitter] AND "LOC121587574"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582562	NM_001348716.2(KDM6B):c.4343A>G (p.Asn1448Ser)	KDM6B, LOC121587574 (N1448S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2442025	NM_001348716.2(KDM6B):c.4412G>A (p.Trp1471Ter)	KDM6B, LOC121587574 (W1471*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic