ClinVar for MedGen (Select 347149) - ClinVar

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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 (non-coding transcript variant +1 more)	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 1478923	NM_001395891.1(CLASP1):c.196-620C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant +1 more)	Roifman syndrome +3 more	GUncertain significance
Select item 1474999	NM_001395891.1(CLASP1):c.196-601A>C	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1143919	NM_001395891.1(CLASP1):c.196-679dup	RNU4ATAC, CLASP1	Duplication (intron variant +1 more)	CLASP1-related condition +4 more	GLikely benign
Select item 977869	NM_001395891.1(CLASP1):c.196-583A>C	RNU4ATAC, CLASP1	Single nucleotide variant (non-coding transcript variant +1 more)	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 977856	NM_001395891.1(CLASP1):c.196-600C>A	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 692041	NM_001395891.1(CLASP1):c.196-607G>A	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	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	NM_001395891.1(CLASP1):c.196-594G>A	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 218087	NM_001395891.1(CLASP1):c.196-672A>G	RNU4ATAC, CLASP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 218085	NM_001395891.1(CLASP1):c.196-602C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Roifman syndrome +4 more	GConflicting classifications of pathogenicity
Select item 218084	NM_001395891.1(CLASP1):c.196-591C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Roifman syndrome +5 more	GConflicting classifications of pathogenicity
Select item 218083	NM_001395891.1(CLASP1):c.196-567G>A	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Roifman syndrome +4 more	GConflicting classifications of pathogenicity
Select item 218082	NM_001395891.1(CLASP1):c.196-570C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Lowry-Wood syndrome +5 more	GPathogenic/Likely pathogenic
Select item 39443	NM_001395891.1(CLASP1):c.196-678C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 39442	NM_001395891.1(CLASP1):c.196-620C>G	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 30184	NM_001395891.1(CLASP1):c.196-604C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant +1 more)	Roifman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 30183	NM_001395891.1(CLASP1):c.196-607G>C	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 30182	NM_001395891.1(CLASP1):c.196-604C>G	RNU4ATAC, CLASP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 30181	NM_001395891.1(CLASP1):c.196-665C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 30180	NR_023343.1:n.30G>A	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 30179	NM_001395891.1(CLASP1):c.196-609C>T	RNU4ATAC, CLASP1	Single nucleotide variant (non-coding transcript variant +1 more)	Lowry-Wood syndrome +5 more	GPathogenic
Select item 30178	NM_001395891.1(CLASP1):c.196-605C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	Osteodysplastic primordial dwarfism, type 1 +4 more	GPathogenic/Likely pathogenic

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Items: 24