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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB12
(P118S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TH
(S19C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
WDR45
(R111C +1 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 5
GUncertain significance
MIR6084, PINK1
(G53D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance
LOC129934069, SPR
(M1L)
Single nucleotide variant
(missense variant +1 more)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GLikely pathogenic
KCNA4
(A49V)
Single nucleotide variant
(missense variant)
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
GUncertain significance
CACNA1B
(R2114W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
GUncertain significance
CACNA1B
(R957W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
GUncertain significance
LOC100133077, CACNA1B
(P32L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
GUncertain significance
TUBB4A
(E256K +3 more)
Single nucleotide variant
(missense variant)
Torsion dystonia 4
GUncertain significance
THAP1
(H150P)
Single nucleotide variant
(missense variant +1 more)
Torsion dystonia 6
GUncertain significance
CASD1, SGCE
(G428R)
Single nucleotide variant
(missense variant +1 more)
Myoclonic dystonia 11
+1 more
GConflicting classifications of pathogenicity
KMT2B
(R901Q)
Single nucleotide variant
(missense variant)
Dystonia 28, childhood-onset
GUncertain significance
KMT2B
Microsatellite
(inframe_insertion)
Dystonia 28, childhood-onset
+1 more
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
Dystonia 27
GUncertain significance
DCTN1
(R25W +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1B
(A1819T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(G266A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADCY5
(P81L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
(G322S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
COL6A3
(R126C +2 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
+1 more
GConflicting classifications of pathogenicity
CASD1, SGCE
(R343W +4 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 11
GUncertain significance
DCTN1
(E1260Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Perry syndrome
+3 more
GConflicting classifications of pathogenicity
KMT2B
(P587R)
Single nucleotide variant
(missense variant)
Dystonia 28, childhood-onset
+1 more
GConflicting classifications of pathogenicity
COL6A3
Single nucleotide variant
(synonymous variant +1 more)
Bethlem myopathy 1A
+1 more
GConflicting classifications of pathogenicity
COL6A3
Single nucleotide variant
(synonymous variant)
Dystonia 27
+2 more
GConflicting classifications of pathogenicity
LOC130065345, PANK2
(R128Q +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
+1 more
GConflicting classifications of pathogenicity
COL6A3
Single nucleotide variant
(synonymous variant)
Dystonia 27
+4 more
GConflicting classifications of pathogenicity
COL6A3
(A3050T +2 more)
Single nucleotide variant
(missense variant)
COL6A3-related disorder
+4 more
GConflicting classifications of pathogenicity
LOC130065345, PANK2
(R94G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL6A3
Single nucleotide variant
(synonymous variant +1 more)
Dystonia 27
+4 more
GConflicting classifications of pathogenicity
COL6A3
(D588N +2 more)
Single nucleotide variant
(missense variant)
Dystonia 27
+2 more
GUncertain significance
COL6A3
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
COL6A3
(A320T +1 more)
Single nucleotide variant
(missense variant +1 more)
Dystonia 27
+4 more
GConflicting classifications of pathogenicity
SPR, LOC129934069
(V38I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TBC1D24
(R524W +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+7 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(S2168L)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
PLA2G6
(P806R +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+4 more
GConflicting classifications of pathogenicity
COL6A3
(V493A +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ATP1A2
(R65L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 98
+5 more
GConflicting classifications of pathogenicity
COL6A3
(A1638T +4 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
COL6A3
(R788Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL6A3
(V216M)
Single nucleotide variant
(missense variant +1 more)
Collagen 6-related myopathy
+4 more
GConflicting classifications of pathogenicity
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