ClinVar for MedGen (Select 347149) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674599	NM_001395891.1(CLASP1):c.196-589T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 1478923	NR_023343.3(RNU4ATAC):n.66G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Lowry-Wood syndrome +3 more	GUncertain significance
Select item 1474999	NR_023343.3(RNU4ATAC):n.47T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1143919	NM_001395891.1(CLASP1):c.196-679dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided +3 more	GLikely benign
Select item 977869	NR_023343.3(RNU4ATAC):n.29T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 977856	NR_023343.3(RNU4ATAC):n.46G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1	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
Select item 631497	NG_029832.1(RNU4ATAC):g.[5030G>A];[5040C>T]			Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 623220	NM_023343.1:c.55G>A	RNU4ATAC	Single nucleotide variant	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 599282	NR_023343.3(RNU4ATAC):n.40C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 218087	NR_023343.3(RNU4ATAC):n.118T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 218085	NR_023343.3(RNU4ATAC):n.48G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +4 more	GPathogenic/Likely pathogenic
Select item 218084	NR_023343.3(RNU4ATAC):n.37G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +5 more	GPathogenic/Likely pathogenic
Select item 218083	NM_001395891.1(CLASP1):c.196-567G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +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 39443	NR_023343.3(RNU4ATAC):n.124G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 39442	NC_000002.12:g.121530945G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 30183	NC_000002.12:g.121530932C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 30182	NC_000002.12:g.121530929G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 30181	NC_000002.12:g.121530990G>A	RNU4ATAC, CLASP1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 30180	NR_023343.1:n.30G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1 +1 more	GLikely pathogenic
Select item 30179	NR_023343.3(RNU4ATAC):n.55G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1 +5 more	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 24