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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
Roifman syndrome
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant +1 more)
Roifman syndrome
+3 more
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
Lowry-Wood syndrome
+3 more
GConflicting classifications of pathogenicity
RNU4ATAC, CLASP1
Duplication
(intron variant +1 more)
CLASP1-related condition
+4 more
GLikely benign
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GLikely pathogenic
CLASP1, RNU4ATAC
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
RNU4ATAC, CLASP1
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)
Microcephaly
+8 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
(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
(non-coding transcript variant +1 more)
not provided
+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
(intron variant +1 more)
Roifman syndrome
+1 more
GConflicting classifications of pathogenicity
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)
Osteodysplastic primordial dwarfism, type 1
+4 more
GPathogenic/Likely pathogenic
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