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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
Osteodysplastic primordial dwarfism, type 1
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
Roifman syndrome
+3 more
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Duplication
(intron variant +1 more)
Lowry-Wood syndrome
+3 more
GLikely benign
RNU4ATAC, CLASP1
Single nucleotide variant
(non-coding transcript variant +1 more)
Osteodysplastic primordial dwarfism, type 1
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
Osteodysplastic primordial dwarfism, type 1
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
Osteodysplastic primordial dwarfism, type 1
GLikely pathogenic
RNU4ATAC
Single nucleotide variant
Osteodysplastic primordial dwarfism, type 1
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
RNU4ATAC-related spliceosomopathies
+4 more
GPathogenic/Likely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
Roifman syndrome
+5 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
Roifman syndrome
+4 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant +1 more)
Roifman syndrome
+5 more
GPathogenic/Likely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant +1 more)
Roifman syndrome
+1 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
RNU4ATAC, CLASP1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely pathogenic
RNU4ATAC, CLASP1
Single nucleotide variant
(non-coding transcript variant +1 more)
Lowry-Wood syndrome
+5 more
GPathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
RNU4ATAC-related condition
+4 more
GPathogenic/Likely pathogenic
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