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Items: 1 to 100 of 254

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993082, LOC129993083
+661 more
Copy number gain
See cases
GPathogenic
LOC129993132, LOC129993133
+420 more
Copy number loss
See cases
GPathogenic
ABHD18, ADAD1
+254 more
Copy number loss
See cases
GPathogenic
LINC02264, LOC126807142
+7 more
Copy number gain
See cases
GLikely benign
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GLikely benign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Deletion
(3 prime UTR variant)
Intellectual Disability, Recessive
GBenign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GBenign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GLikely benign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GBenign
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Deletion
(3 prime UTR variant)
Intellectual Disability, Recessive
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Microsatellite
(3 prime UTR variant)
Intellectual Disability, Recessive
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
PRSS12
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
PRSS12
Microsatellite
(3 prime UTR variant)
Intellectual Disability, Recessive
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PRSS12
(F865L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(S863L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(G851V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PRSS12
(S845F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(V843M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(G842E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(G835R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PRSS12
(R833Q)
Single nucleotide variant
(missense variant)
Intellectual Disability, Recessive
+1 more
GLikely benign
PRSS12
(R833W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(C831F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(M830fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRSS12
(P828L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(D824H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
PRSS12
(R817H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(R805S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(R801W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(R797H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(R797C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PRSS12
(R775Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRSS12
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
PRSS12
(R757fs)
Indel
(frameshift variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R757fs)
Microsatellite
(frameshift variant)
not specified
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRSS12
(V746I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(C739Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(I727V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRSS12
(Y725H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(R722C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(R719*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
PRSS12
(E717Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
+1 more
GUncertain significance
PRSS12
(R716Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(R716W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(Q710fs)
Duplication
(frameshift variant)
not specified
+1 more
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRSS12
(E706*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
PRSS12
(F703C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(P700S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRSS12
(V690D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(T685I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PRSS12
(S684R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(S684G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(F678L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 1
GUncertain significance
PRSS12
(A674S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRSS12
(A663S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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