ClinVar for MedGen (Select 375801) - ClinVar

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Items: 21

	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	NR_023343.3(RNU4ATAC):n.66G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Lowry-Wood syndrome +3 more	GUncertain significance
Select item 1403727	NM_001395891.1(CLASP1):c.196-571C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1143919	NM_001395891.1(CLASP1):c.196-679dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided +3 more	GLikely benign
Select item 932368	NR_023343.3(RNU4ATAC):n.18G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 870579	NR_023343.3(RNU4ATAC):n.116A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +2 more	GLikely pathogenic
Select item 812960	NC_000002.12:g.121530995A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 636959	NR_023343.3(RNU4ATAC):n.46G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 631497	NG_029832.1(RNU4ATAC):g.[5030G>A];[5040C>T]			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 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 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)	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 39443	NR_023343.3(RNU4ATAC):n.124G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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)	Osteodysplastic primordial dwarfism, type 1 +4 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 21