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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGTPBP1
(A1005T +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GUncertain significance
AGTPBP1
Single nucleotide variant
(splice acceptor variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GLikely pathogenic
AGTPBP1
(V378I +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GUncertain significance
AGTPBP1
Single nucleotide variant
(intron variant +1 more)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic
AGTPBP1
(Q905* +3 more)
Single nucleotide variant
(nonsense)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GLikely pathogenic
AGTPBP1, LOC130001960
Single nucleotide variant
(splice donor variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GLikely pathogenic
AGTPBP1
(C1029F +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GUncertain significance
AGTPBP1
(V873D +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GUncertain significance
AGTPBP1
(Y787* +3 more)
Single nucleotide variant
(nonsense)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GLikely pathogenic
AGTPBP1, LOC130001960
(R53fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AGTPBP1
Single nucleotide variant
(intron variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GUncertain significance
AGTPBP1
(R908Q +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GUncertain significance
AGTPBP1
(R496* +3 more)
Single nucleotide variant
(nonsense)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GLikely pathogenic
AGTPBP1
(Q274fs +1 more)
Deletion
(frameshift variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic
AGTPBP1
(R759L +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GLikely pathogenic
AGTPBP1
(R374* +3 more)
Single nucleotide variant
(nonsense)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic
AGTPBP1
(Y694D +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic
AGTPBP1
(R918W +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic
AGTPBP1
(Q788* +3 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
GLikely pathogenic
AGTPBP1
(H990L +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic
AGTPBP1
(T851M +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic
AGTPBP1
(Q856* +3 more)
Single nucleotide variant
(nonsense)
Neurodegeneration, childhood-onset, with cerebellar atrophy
GPathogenic
AGTPBP1
Deletion
(nonsense)
AGTPBP1-related condition
GPathogenic
AGTPBP1
Single nucleotide variant
(splice acceptor variant)
AGTPBP1-related condition
GPathogenic
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