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Links from MedGen

Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCTD17
(I314T +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
(A14S)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(V139L)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(R257P +1 more)
Single nucleotide variant
(missense variant +2 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Duplication
(inframe_insertion +1 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
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
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(V183fs)
Duplication
(frameshift variant)
Myoclonic dystonia 26
GPathogenic
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(K186R)
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
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(P241L +2 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 26
+1 more
GUncertain significance
ANKRD54, BAIAP2L2
+50 more
Deletion
Infantile neuroaxonal dystrophy
+2 more
GConflicting classifications of pathogenicity
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 26
GLikely benign
KCTD17
(G276* +2 more)
Single nucleotide variant
(nonsense +2 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(A68T)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(R208H)
Single nucleotide variant
(synonymous variant +2 more)
Myoclonic dystonia 26
GLikely benign
KCTD17
(A298T +2 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(G276R +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoclonic dystonia 26
GLikely benign
KCTD17
(P257L)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 26
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
(synonymous variant +2 more)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 26
GLikely benign
KCTD17, LOC130067340
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(D95H)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Duplication
(intron variant)
Myoclonic dystonia 26
GBenign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(R159C)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(I116L)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(R201C)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
+1 more
GConflicting classifications of pathogenicity
KCTD17
(R240C +1 more)
Single nucleotide variant
(missense variant +2 more)
Myoclonic dystonia 26
+1 more
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Microsatellite
(inframe_deletion +1 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(T127M)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(T206M)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 26
+1 more
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 26
GLikely benign
KCTD17, LOC130067340
(R2S)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(E146K)
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)
not provided
+1 more
GConflicting classifications of pathogenicity
KCTD17
(G111V)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
Single nucleotide variant
(5 prime UTR 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
Microsatellite
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17, LOC130067340
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(G111D)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(P262A +1 more)
Single nucleotide variant
(missense variant +2 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
(G6E)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(T191A)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(R261H +1 more)
Single nucleotide variant
(missense variant +2 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(V223A)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
(E7G)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
(A26T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KCTD17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GBenign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(G167S)
Single nucleotide variant
(missense 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
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic dystonia 26
+1 more
GLikely benign
KCTD17, LOC130067340
(R9T +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(G269D +3 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17, LOC130067340
(A21V +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GBenign
KCTD17
(Q207*)
Single nucleotide variant
(synonymous variant +2 more)
Myoclonic dystonia 26
+1 more
GLikely benign
KCTD17
(T211S)
Single nucleotide variant
(synonymous variant +2 more)
Myoclonic dystonia 26
GLikely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GBenign
KCTD17
(R271H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
KCTD17
Single nucleotide variant
(synonymous variant)
Myoclonic dystonia 26
GBenign/Likely benign
KCTD17
(E186K +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(V237L +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(K211T +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
+1 more
GUncertain significance
KCTD17
(R288Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(Q184K +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(G107A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KCTD17
(R292C +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
KCTD17
(H313D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
KCTD17
Single nucleotide variant
(intron variant)
Myoclonic dystonia 26
GLikely benign
KCTD17
(S197T +1 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 26
GUncertain significance
KCTD17
(R212W)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
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