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Items: 1 to 100 of 233

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+935 more
Copy number gain
See cases
GPathogenic
LOC130000086, LOC130000087
+932 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+927 more
Copy number gain
See cases
GPathogenic
LOC130000305, LOC130000306
+927 more
Copy number gain
See cases
GPathogenic
LOC130000275, LOC130000276
+927 more
Copy number gain
See cases
GPathogenic
LOC101929258, LOC101929470
+920 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+920 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+920 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+898 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+591 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+417 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+276 more
Copy number loss
See cases
GPathogenic
LOC124174256, LOC124174257
+541 more
Copy number gain
See cases
GPathogenic
ADAM2, ANK1
+184 more
Copy number gain
See cases
GPathogenic
ANK1, AP3M2
+122 more
Copy number gain
See cases
GPathogenic
LOC130000302, LOC130000303
+121 more
Copy number gain
See cases
GPathogenic
ANK1, AP3M2
+86 more
Copy number gain
See cases
GPathogenic
CHRNA6, CHRNB3
+34 more
Copy number gain
See cases
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
+1 more
GBenign
THAP1
Duplication
(3 prime UTR variant)
Dystonic disorder
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
+1 more
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
THAP1
Deletion
(3 prime UTR variant)
Dystonic disorder
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 6
GBenign
FNTA, HOOK3
+11 more
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
+1 more
GUncertain significance
THAP1
(P202S)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(synonymous variant +1 more)
Torsion dystonia 6
GLikely benign
THAP1
Single nucleotide variant
(synonymous variant +1 more)
Torsion dystonia 6
GLikely benign
THAP1
(G197D)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
+3 more
GConflicting classifications of pathogenicity
THAP1
(R196G)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(V193I)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
+1 more
GConflicting classifications of pathogenicity
THAP1
Single nucleotide variant
(synonymous variant +1 more)
Torsion dystonia 6
GLikely benign
THAP1
(D192N)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
+1 more
GConflicting classifications of pathogenicity
THAP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
THAP1
(E189D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
THAP1
Single nucleotide variant
(synonymous variant +1 more)
Torsion dystonia 6
GLikely benign
THAP1
(V183F)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Torsion dystonia 6
GBenign
THAP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Torsion dystonia 6
GLikely benign
THAP1
(R175Q)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(R171G)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(R169Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Torsion dystonia 6
+1 more
GUncertain significance
THAP1
(R169G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
THAP1
(R169*)
Single nucleotide variant
(nonsense +1 more)
Torsion dystonia 6
+1 more
GLikely pathogenic
THAP1
Single nucleotide variant
(synonymous variant +1 more)
Torsion dystonia 6
GLikely benign
THAP1
Single nucleotide variant
(synonymous variant +1 more)
Torsion dystonia 6
+2 more
GBenign/Likely benign
THAP1
(K161fs)
Microsatellite
(frameshift variant +1 more)
Torsion dystonia 6
GPathogenic/Likely pathogenic
THAP1
(K158fs)
Deletion
(frameshift variant +1 more)
Torsion dystonia 6
GPathogenic
THAP1
(V156G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
THAP1
(Q155P)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(Q154fs)
Deletion
(frameshift variant +1 more)
Torsion dystonia 6
GPathogenic
THAP1
(H150P)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(R148K)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(M143V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
THAP1
Single nucleotide variant
(synonymous variant +1 more)
Torsion dystonia 6
GLikely benign
THAP1
(T142A)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(D141N)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
THAP1
(H135Y)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(S130fs)
Deletion
(frameshift variant +1 more)
Torsion dystonia 6
GLikely pathogenic
THAP1
(C133Y)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(F132S)
Single nucleotide variant
(missense variant +1 more)
THAP1-related disorder
GUncertain significance
THAP1
(V131fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
THAP1
(S130*)
Single nucleotide variant
(nonsense +1 more)
Torsion dystonia 6
GPathogenic
THAP1
(V131fs)
Microsatellite
(frameshift variant +1 more)
Torsion dystonia 6
GPathogenic
THAP1
Deletion
(splice acceptor variant)
Torsion dystonia 6
GUncertain significance
THAP1
(T125P)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
THAP1
(P122L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
THAP1
Single nucleotide variant
(synonymous variant +1 more)
Torsion dystonia 6
GLikely benign
THAP1
(M120T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
THAP1
(M120V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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