ClinVar for OMIM (Select 614801) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 487566	NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter)	MSL3 (Q180* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 487565	NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs)	MSL3 (L459fs +3 more)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 487564	NM_078629.4(MSL3):c.1381+1G>T	MSL3	Single nucleotide variant (splice donor variant)	Intellectual disability	GLikely pathogenic

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