"Genomic Medicine Lab, University of California San Francisco"[submitt - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 816898	NM_001080453.3(INTS1):c.3430-2A>C	INTS1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GLikely pathogenic
Select item 816897	NM_001080453.3(INTS1):c.3036del (p.Met1013fs)	INTS1 (M1013fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic