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Items: 1 to 100 of 162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A4GALT, ACO2
+2088 more
Copy number gain
See cases
GPathogenic
LOC126863153, LOC126863154
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067137, LOC130067138
+823 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOL1
+293 more
Copy number loss
See cases
GPathogenic
C1QTNF6, CACNG2
+93 more
Copy number loss
See cases
GPathogenic
C1QTNF6, CARD10
+62 more
Copy number loss
See cases
GUncertain significance
KCTD17
Single nucleotide variant
not provided
GBenign
KCTD17, LOC130067340
Duplication
not provided
GBenign
KCTD17, LOC130067340
Single nucleotide variant
(5 prime UTR variant)
Inborn genetic diseases
GUncertain significance
KCTD17, LOC130067340
Single nucleotide variant
(5 prime UTR variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
Single nucleotide variant
(5 prime UTR variant)
Myoclonic dystonia 26
GLikely benign
KCTD17, LOC130067340
Single nucleotide variant
(5 prime UTR variant)
Inborn genetic diseases
GUncertain significance
KCTD17, LOC130067340
(M1L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCTD17, LOC130067340
(R9T +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
(R2S)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
(G6E)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17, LOC130067340
(E7G)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
(P11L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCTD17, LOC130067340
(A14S)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
(A21V +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17, LOC130067340
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17, LOC130067340
(A26T +1 more)
Single nucleotide variant
(missense variant)
KCTD17-related condition
+2 more
GBenign
KCTD17, LOC130067340
(A19V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCTD17, LOC130067340
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GBenign/Likely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GBenign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GBenign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(G67R)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(A68T)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(G79R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(D95H)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GBenign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GBenign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCTD17
(G107A +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
+1 more
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(E106K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCTD17
(G111S)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
+1 more
GConflicting classifications of pathogenicity
KCTD17
(G111V)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(G111D)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GBenign
KCTD17
(I116L)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(R120W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(T127M)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(splice donor variant)
KCTD17-related condition
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GBenign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GBenign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
KCTD17-related condition
+2 more
GBenign
KCTD17
(R138P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCTD17
(R145H +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KCTD17
(V139L)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(E146K)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(R159C)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
+1 more
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GBenign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GBenign
KCTD17
(G167S)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(G173S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(Q184K +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(E186K +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(V183fs)
Duplication
(frameshift variant)
Myoclonic dystonia 26
GPathogenic
KCTD17
(K186R)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(S197T +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(T191A)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(G194R)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
+1 more
GConflicting classifications of pathogenicity
KCTD17
(R201C)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
+1 more
GConflicting classifications of pathogenicity
KCTD17
(K211T +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GBenign
KCTD17
Single nucleotide variant
(intron variant)
not provided
GBenign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(T206M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
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