C0266295[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523499	NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)	KAT6B (R438fs +7 more)	Deletion (frameshift variant)	Blepharophimosis +9 more	GLikely pathogenic
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +17 more	GPathogenic/Likely pathogenic
Select item 523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7 (C571* +4 more)	Single nucleotide variant (nonsense +1 more)	Insulin resistance +14 more	GPathogenic

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