C5231414[trait identifier] AND "Shieh Lab, University of California, S - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689522	NM_001080453.3(INTS1):c.5398dup (p.Arg1800fs)	INTS1 (R1800fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GPathogenic
Select item 689521	NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys)	INTS1 (R77C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +2 more	GConflicting classifications of pathogenicity