C0240063[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 523459	NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)	TFAP2A (K340fs +2 more)	Deletion (frameshift variant)	Hypertelorism +13 more	GPathogenic
Select item 506012	NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)	TMEM67 (R172* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +11 more	GPathogenic/Likely pathogenic
Select item 523562	NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3])	TMEM67	Duplication (inframe_insertion +1 more)	Nystagmus +3 more	GLikely pathogenic

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