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Items: 1 to 100 of 211

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2048 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+2049 more
Copy number gain
See cases
GPathogenic
LOC126861801, LOC126861802
+2047 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2044 more
Copy number gain
See cases
GPathogenic
LOC126861839, LOC126861840
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2040 more
Copy number gain
See cases
GPathogenic
LOC124849292, LOC124849293
+2028 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2021 more
Copy number gain
See cases
GPathogenic
LOC130009743, LOC130009744
+2024 more
Copy number gain
See cases
GPathogenic
LOC130009548, LOC130009549
+2024 more
Copy number gain
See cases
GPathogenic
LOC130009739, LOC130009740
+992 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
LOC130009911, LOC130009912
+938 more
Copy number gain
See cases
GPathogenic
LOC130010180, LOC130010181
+1557 more
Copy number gain
See cases
GPathogenic
LINC00392, LINC00393
+1404 more
Copy number loss
See cases
GPathogenic
LOC130009913, LOC130009914
+733 more
Copy number loss
See cases
GPathogenic
LOC130009813, LOC130009814
+729 more
Copy number gain
See cases
GPathogenic
LOC130009962, LOC130009963
+1288 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1268 more
Copy number gain
See cases
GPathogenic
MIR20A, MIR3169
+657 more
Copy number loss
See cases
GPathogenic
ACOD1, ALG11
+530 more
Deletion
Chromosome 13q14 deletion syndrome
GPathogenic
ACOD1, ALG11
+513 more
Copy number loss
See cases
GPathogenic
ACOD1, ATXN8OS
+258 more
Copy number loss
See cases
GPathogenic
ACOD1, ATXN8OS
+232 more
Copy number loss
See cases
GPathogenic
EDNRB, EDNRB-AS1
+133 more
Copy number loss
See cases
GPathogenic
LINC00331, LINC00333
+87 more
Copy number loss
See cases
GPathogenic
DCT, GPC5
+121 more
Copy number loss
See cases
GPathogenic
MCF2L-AS1, METTL21C
+706 more
Copy number gain
See cases
GPathogenic
LOC130009994, LOC130009995
+705 more
Copy number gain
See cases
GPathogenic
ABCC4, BIVM
+344 more
Copy number gain
See cases
GPathogenic
LOC130010070, LOC130010071
+663 more
Copy number gain
See cases
GPathogenic
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Deletion
(3 prime UTR variant)
Tourette syndrome
GLikely benign
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GLikely benign
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GLikely benign
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GLikely benign
SLITRK1
Duplication
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GLikely benign
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Microsatellite
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GLikely benign
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GPathogenic
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GLikely benign
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(3 prime UTR variant)
Tourette syndrome
GUncertain significance
SLITRK1
(L694F)
Single nucleotide variant
(missense variant)
SLITRK1-related condition
GUncertain significance
SLITRK1
(N679H)
Single nucleotide variant
(missense variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(synonymous variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLITRK1
(S657P)
Single nucleotide variant
(missense variant)
Tourette syndrome
GUncertain significance
SLITRK1
(R652P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLITRK1
Single nucleotide variant
(synonymous variant)
Tourette syndrome
GUncertain significance
SLITRK1
Single nucleotide variant
(synonymous variant)
Tourette syndrome
GUncertain significance
SLITRK1
(G603R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLITRK1
(A600V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLITRK1
(R584K)
Single nucleotide variant
(missense variant)
Tourette syndrome
GUncertain significance
SLITRK1
(L572V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLITRK1
Single nucleotide variant
(synonymous variant)
SLITRK1-related condition
GLikely benign
SLITRK1
(S554N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLITRK1
(V551M)
Single nucleotide variant
(missense variant)
Tourette syndrome
+1 more
GUncertain significance
SLITRK1
(G513E)
Single nucleotide variant
(missense variant)
Tourette syndrome
GUncertain significance
SLITRK1
(K498E)
Single nucleotide variant
(missense variant)
Tourette syndrome
GUncertain significance
SLITRK1
(K472R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLITRK1
(A469T)
Single nucleotide variant
(missense variant)
Tourette syndrome
+1 more
GUncertain significance
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