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Items: 1 to 100 of 334

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM10, ALDH1A2
+287 more
Copy number loss
See cases
GPathogenic
ARPP19, ATOSA
+176 more
Copy number loss
See cases
GPathogenic
LOC105370829, LOC108281154
+179 more
Inversion
Aromatase excess syndrome
GPathogenic
CCPG1, DNAAF4
+28 more
Copy number gain
See cases
GUncertain significance
RAB27A
Single nucleotide variant
Griscelli syndrome
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Deletion
(3 prime UTR variant)
Griscelli syndrome
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GLikely benign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GLikely benign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Insertion
(3 prime UTR variant)
Griscelli syndrome
GUncertain significance
RAB27A
Indel
(3 prime UTR variant)
Griscelli syndrome
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RAB27A
Duplication
(3 prime UTR variant)
Griscelli syndrome
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
+1 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
RAB27A
Single nucleotide variant
(3 prime UTR variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(C221Y)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(A218E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAB27A
(A218T)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(E213fs)
Deletion
(frameshift variant)
Griscelli syndrome type 2
GPathogenic
RAB27A
(E212D)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(Q209H)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(T207fs)
Duplication
(frameshift variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(T207M)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(A205S)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
+1 more
GUncertain significance
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
GUncertain significance
RAB27A
(R200Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAB27A
(R200*)
Single nucleotide variant
(nonsense)
Griscelli syndrome type 2
GPathogenic
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
GLikely benign
RAB27A
(V199E)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
GUncertain significance
RAB27A
(V199A)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
Single nucleotide variant
(synonymous variant)
Griscelli syndrome type 2
+2 more
GBenign/Likely benign
RAB27A
(V198A)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
+1 more
GConflicting classifications of pathogenicity
RAB27A
(V198M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAB27A
(V198L)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(E196fs)
Deletion
(frameshift variant)
RAB27A-related disorder
GPathogenic
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