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Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APTX
(K155fs +3 more)
Deletion
(frameshift variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GLikely pathogenic
APTX
(L125fs +3 more)
Deletion
(frameshift variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(H186R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
APTX
(A110fs +3 more)
Duplication
(frameshift variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(Q130* +2 more)
Single nucleotide variant
(nonsense +2 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+1 more
GPathogenic/Likely pathogenic
APTX
(R111fs +3 more)
Deletion
(frameshift variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
Single nucleotide variant
(5 prime UTR variant +2 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+1 more
GBenign
APTX
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
APTX
(K153E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign/Likely benign
APTX
Single nucleotide variant
(splice acceptor variant)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(A110V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
SETX
(V2385G)
Single nucleotide variant
(missense variant)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
SETX
Deletion
(nonsense)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GLikely pathogenic
APTX
(R16*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
APTX
(E231K +3 more)
Single nucleotide variant
(missense variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
(E197G +3 more)
Single nucleotide variant
(missense variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+1 more
GBenign/Likely benign
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
(M1I)
Single nucleotide variant
(missense variant +3 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
(R13Q)
Single nucleotide variant
(missense variant +2 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GLikely benign
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
(H166Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GUncertain significance
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
APTX
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
APTX
(V187fs +3 more)
Deletion
(frameshift variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
Single nucleotide variant
(splice acceptor variant)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
Deletion
(intron variant)
not provided
+1 more
GBenign
APTX
Deletion
(intron variant)
not specified
+2 more
GBenign
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
APTX
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
SETX
(C5del)
Microsatellite
(inframe_deletion)
Amyotrophic lateral sclerosis type 4
+3 more
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
APTX
Microsatellite
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
APTX
Single nucleotide variant
(splice acceptor variant +2 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(K233* +3 more)
Single nucleotide variant
(nonsense +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(R42*)
Single nucleotide variant
(nonsense +2 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+1 more
GPathogenic/Likely pathogenic
APTX
Indel
(intron variant)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+1 more
GLikely benign
APTX
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
APTX
(I27T)
Single nucleotide variant
(missense variant +2 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+1 more
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
APTX
Single nucleotide variant
(synonymous variant +3 more)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+1 more
GUncertain significance
APTX
(E125D +2 more)
Single nucleotide variant
(missense variant +2 more)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+2 more
GBenign
APTX
(R247Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
APTX
Single nucleotide variant
(synonymous variant +1 more)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
APTX
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+1 more
GUncertain significance
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+2 more
GConflicting classifications of pathogenicity
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+1 more
GUncertain significance
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+1 more
GBenign/Likely benign
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+1 more
GUncertain significance
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
APTX
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
APTX
Single nucleotide variant
(synonymous variant +1 more)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+3 more
GConflicting classifications of pathogenicity
APTX
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
APTX
(W6C)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
APTX
Duplication
(intron variant)
not specified
+4 more
GBenign
APTX
(L248M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
APTX
(R199H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
APTX
Deletion
(intron variant)
Coenzyme Q10 deficiency, Oculomotor Apraxia Type
+4 more
GBenign/Likely benign
PNKP
Deletion
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
APTX
Single nucleotide variant
(intron variant +2 more)
not specified
+1 more
GBenign/Likely benign
APTX
(Q324L +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
APTX
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
APTX
(S144Y +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GBenign/Likely benign
APTX
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
APTX
(L223P +3 more)
Single nucleotide variant
(missense variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GLikely pathogenic
APTX
Deletion
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(W279* +3 more)
Single nucleotide variant
(nonsense +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+2 more
GPathogenic
APTX
Single nucleotide variant
(3 prime UTR variant +2 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(H201R +3 more)
Single nucleotide variant
(missense variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(V263G +3 more)
Single nucleotide variant
(missense variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(S209fs +3 more)
Deletion
(frameshift variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(P206L +3 more)
Single nucleotide variant
(missense variant +1 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
GPathogenic
APTX
(E160fs +3 more)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
GPathogenic
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