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Items: 1 to 100 of 267

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMMECR1L, BIN1
+254 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
C1QL2, C2orf76
+92 more
Copy number loss
See cases
GPathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GBenign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GBenign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GBenign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
CLASP1-related disorder
GLikely benign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Indel
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Roifman syndrome
+1 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Lowry-Wood syndrome
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not specified
+8 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Insertion
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Deletion
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Osteodysplastic primordial dwarfism, type 1
+3 more
GPathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Duplication
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Roifman syndrome
+5 more
GPathogenic/Likely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Roifman syndrome
+2 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
CLASP1-related disorder
+1 more
GLikely benign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Duplication
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Osteodysplastic primordial dwarfism, type 1
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Osteodysplastic primordial dwarfism, type 1
+1 more
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Osteodysplastic primordial dwarfism, type 1
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Roifman syndrome
+5 more
GPathogenic/Likely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GPathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RNU4ATAC, CLASP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
CLASP1-related disorder
+2 more
GLikely benign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Osteodysplastic primordial dwarfism, type 1
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GPathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Roifman syndrome
+4 more
GPathogenic/Likely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Roifman syndrome
+1 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Osteodysplastic primordial dwarfism, type 1
+4 more
GPathogenic/Likely pathogenic
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RNU4ATAC, CLASP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
Lowry-Wood syndrome
+1 more
GConflicting classifications of pathogenicity
CLASP1, RNU4ATAC
Single nucleotide variant
(intron variant)
RNU4ATAC spectrum disorder
+1 more
GPathogenic/Likely pathogenic
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