U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 345

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+61 more
Deletion
Generalized juvenile polyposis/juvenile polyposis coli
GPathogenic
ADIRF, ADIRF-AS1
+60 more
Deletion
Generalized juvenile polyposis/juvenile polyposis coli
GPathogenic
ADIRF, ADIRF-AS1
+57 more
Deletion
PTEN hamartoma tumor syndrome
GPathogenic
PAPSS2
Single nucleotide variant
not provided
GBenign
PAPSS2
Single nucleotide variant
not provided
GBenign
PAPSS2
Microsatellite
(5 prime UTR variant)
not provided
GLikely benign
PAPSS2
Microsatellite
(5 prime UTR variant)
not provided
GBenign
PAPSS2
Microsatellite
(5 prime UTR variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
(E10*)
Single nucleotide variant
(nonsense)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GPathogenic
PAPSS2
(E10K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PAPSS2
(N11H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAPSS2
(Q12R)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(Q13E)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(N17D)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(Y20C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PAPSS2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
(A22V)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(R41*)
Single nucleotide variant
(nonsense)
PAPSS2-related disorder
+1 more
GPathogenic
PAPSS2
(T48R)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GPathogenic
PAPSS2
Microsatellite
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Microsatellite
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GBenign
PAPSS2
Microsatellite
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GBenign
PAPSS2
Microsatellite
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
+1 more
GBenign
PAPSS2
Microsatellite
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Duplication
(intron variant)
not provided
GBenign
PAPSS2
Deletion
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
(Y65H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PAPSS2
(Y65C)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(S68P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PAPSS2
(Y74*)
Single nucleotide variant
(nonsense)
PAPSS2-related disorder
+2 more
GPathogenic/Likely pathogenic
PAPSS2
(L89V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PAPSS2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GBenign/Likely benign
PAPSS2
(S92Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PAPSS2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GBenign
PAPSS2
(P93R)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(R101C)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(D112E)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(A113fs)
Duplication
(frameshift variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GPathogenic
PAPSS2
(G114A)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
+1 more
GUncertain significance
PAPSS2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PAPSS2
Insertion
(intron variant)
not provided
GLikely benign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GBenign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
not provided
GLikely benign
PAPSS2
Insertion
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Insertion
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Duplication
(intron variant)
not provided
GBenign
PAPSS2
Duplication
(intron variant)
not specified
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
PAPSS2
Deletion
(intron variant)
not provided
GLikely benign
PAPSS2
Deletion
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GBenign
PAPSS2
Deletion
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
(R129H)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GPathogenic
PAPSS2
(R133C)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(R133L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
+1 more
GUncertain significance
PAPSS2
(I135M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PAPSS2
(E137K)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(A139V)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(F144del)
Deletion
(inframe_deletion)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(F147S)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(P151S)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(K161fs)
Duplication
(frameshift variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GPathogenic
PAPSS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PAPSS2
Single nucleotide variant
(splice donor variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely pathogenic
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
not provided
GBenign
PAPSS2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
PAPSS2
(T176I)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(I178L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
(E183K)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GUncertain significance
PAPSS2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia, PAPSS2 type
GLikely benign
Format
Items per page
Sort by
Choose Destination