ClinVar for MedGen (Select 375801) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1944546	NM_001395891.1(CLASP1):c.196-562G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1803779	NM_001395891.1(CLASP1):c.[196-571C>T];[196-670T>G]			Roifman syndrome	GLikely pathogenic
Select item 1478923	NM_001395891.1(CLASP1):c.196-620C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1 +3 more	GUncertain significance
Select item 1403727	NM_001395891.1(CLASP1):c.196-571C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1143919	NM_001395891.1(CLASP1):c.196-679dup	CLASP1, RNU4ATAC	Duplication (intron variant)	Lowry-Wood syndrome +4 more	GLikely benign
Select item 932368	NM_001395891.1(CLASP1):c.196-572C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 870579	NM_001395891.1(CLASP1):c.196-670T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +2 more	GLikely pathogenic
Select item 812960	NM_001395891.1(CLASP1):c.196-670T>A	RNU4ATAC, CLASP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 636959	NM_001395891.1(CLASP1):c.196-600C>T	RNU4ATAC, CLASP1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 218087	NM_001395891.1(CLASP1):c.196-672A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 218086	NM_001395891.1(CLASP1):c.196-562G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	RNU4ATAC-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 218085	NM_001395891.1(CLASP1):c.196-602C>T	RNU4ATAC, CLASP1	Single nucleotide variant (intron variant)	RNU4ATAC-related spliceosomopathies +4 more	GPathogenic/Likely pathogenic
Select item 218084	NM_001395891.1(CLASP1):c.196-591C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	RNU4ATAC-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 218083	NM_001395891.1(CLASP1):c.196-567G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	RNU4ATAC-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 218082	NM_001395891.1(CLASP1):c.196-570C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Intellectual disability +5 more	GPathogenic/Likely pathogenic
Select item 39443	NM_001395891.1(CLASP1):c.196-678C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30184	NM_001395891.1(CLASP1):c.196-604C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 30179	NM_001395891.1(CLASP1):c.196-609C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1 +5 more	GPathogenic
Select item 30178	NM_001395891.1(CLASP1):c.196-605C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	RNU4ATAC-related disorder +4 more	GPathogenic/Likely pathogenic