"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692040	NM_001395891.1(CLASP1):c.196-562G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Lowry-Wood syndrome	GLikely pathogenic
Select item 692041	NM_001395891.1(CLASP1):c.196-607G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Lowry-Wood syndrome +1 more	GConflicting classifications of pathogenicity