"Blueprint Genetics"[submitter] AND "CLASP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 218086	NR_023343.3(RNU4ATAC):n.8C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 218083	NM_001395891.1(CLASP1):c.196-567G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1 +3 more	GPathogenic
Select item 218082	NM_001395891.1(CLASP1):c.196-570C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +5 more	GPathogenic/Likely pathogenic
Select item 636959	NR_023343.3(RNU4ATAC):n.46G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 30184	NR_023343.3(RNU4ATAC):n.50G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 30178	NR_023343.3(RNU4ATAC):n.51G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	RNU4ATAC-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1224468	NR_023343.3(RNU4ATAC):n.124delG	CLASP1, RNU4ATAC	Deletion (intron variant)	not provided	GLikely pathogenic

ClinVar