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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TANGO2
(H14P +2 more)
Single nucleotide variant
(missense variant +1 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GUncertain significance
TANGO2
Deletion
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GPathogenic
TANGO2
(L137R +2 more)
Single nucleotide variant
(missense variant +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GUncertain significance
TANGO2
(L114W +3 more)
Single nucleotide variant
(missense variant +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GUncertain significance
TANGO2
(H135fs +2 more)
Deletion
(frameshift variant +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
+1 more
GPathogenic/Likely pathogenic
TANGO2
(N120S +2 more)
Single nucleotide variant
(missense variant +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GUncertain significance
TANGO2
(D110N +3 more)
Single nucleotide variant
(missense variant +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GUncertain significance
TANGO2
(H177Q +15 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
TANGO2
(R129Q +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
+1 more
GUncertain significance
TANGO2
(A28V +2 more)
Single nucleotide variant
(nonsense +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
+1 more
GPathogenic
TANGO2
(F6del)
Microsatellite
(inframe_deletion +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GUncertain significance
TANGO2
(G130C +3 more)
Single nucleotide variant
(missense variant +1 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GUncertain significance
TANGO2
(L20R +1 more)
Single nucleotide variant
(missense variant +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GUncertain significance
TANGO2
(G137S +10 more)
Single nucleotide variant
(missense variant +3 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
+1 more
GUncertain significance
TANGO2
(S53*)
Single nucleotide variant
(nonsense +3 more)
not provided
+2 more
GBenign/Likely benign
TANGO2
Single nucleotide variant
(intron variant)
TANGO2-related disorder
+2 more
GConflicting classifications of pathogenicity
TANGO2
Deletion
(inframe_deletion +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GLikely pathogenic
TANGO2
Deletion
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GPathogenic
TANGO2
Deletion
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GPathogenic
TANGO2
Copy number loss
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GPathogenic
TANGO2
Copy number loss
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GPathogenic
TANGO2
Single nucleotide variant
(splice donor variant +1 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GLikely pathogenic
TANGO2
(R73Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GUncertain significance
TANGO2
Single nucleotide variant
(synonymous variant +3 more)
not provided
+1 more
GLikely benign
BICD2
(R795W)
Single nucleotide variant
(missense variant)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
+1 more
GUncertain significance
TANGO2
(R86* +2 more)
Single nucleotide variant
(nonsense +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
+1 more
GPathogenic/Likely pathogenic
TANGO2
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TANGO2
(R32* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TANGO2
(R140* +3 more)
Single nucleotide variant
(nonsense +2 more)
Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
+1 more
GPathogenic
TANGO2
(C2fs)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
TANGO2
Deletion
(splice acceptor variant +2 more)
Cardiac arrhythmia
+4 more
GPathogenic
TANGO2
Deletion
Acute rhabdomyolysis
+5 more
GPathogenic
TANGO2
Single nucleotide variant
(non-coding transcript variant +2 more)
Seizure
+7 more
GPathogenic/Likely pathogenic
TANGO2
(G154R +5 more)
Single nucleotide variant
(missense variant +2 more)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
+6 more
GPathogenic/Likely pathogenic
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