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Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
Single nucleotide variant
(intron variant)
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
+3 more
GUncertain significance
TBC1D24
(F251fs)
Deletion
(frameshift variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GPathogenic
TBC1D24
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 16
GUncertain significance
TBC1D24
(W215fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 65
+6 more
GPathogenic
TBC1D24
Single nucleotide variant
(splice donor variant)
Caused by mutation in the TBC1 domain family, member 24
+3 more
GLikely pathogenic
TBC1D24
(S178W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GConflicting classifications of pathogenicity
TBC1D24
(A465T +1 more)
Single nucleotide variant
(missense variant)
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
+7 more
GUncertain significance
TBC1D24
(V73M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+9 more
GUncertain significance
TBC1D24
(L245P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 86
+8 more
GUncertain significance
TBC1D24
(R270C)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
Familial infantile myoclonic epilepsy
+2 more
GLikely pathogenic
TBC1D24
(P455fs +1 more)
Duplication
(frameshift variant)
not provided
+8 more
GPathogenic/Likely pathogenic
TBC1D24
(I545V +1 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
TBC1D24
(A476D +1 more)
Single nucleotide variant
(missense variant)
not provided
+11 more
GBenign/Likely benign
TBC1D24
(P135L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+3 more
GConflicting classifications of pathogenicity
TBC1D24
(D147N)
Single nucleotide variant
(missense variant)
DOORS syndrome
+9 more
GUncertain significance
TBC1D24
(E443K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 16
+9 more
GConflicting classifications of pathogenicity
TBC1D24
(R293H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GUncertain significance
TBC1D24
(A291T)
Single nucleotide variant
(missense variant)
not specified
+9 more
GUncertain significance
TBC1D24
(P282R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
TBC1D24
(S202L)
Single nucleotide variant
(missense variant)
Familial infantile myoclonic epilepsy
+8 more
GUncertain significance
TBC1D24
(E153K)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
TBC1D24
(H481fs +1 more)
Duplication
(frameshift variant)
DOORS syndrome
GPathogenic
TBC1D24
(L333F +1 more)
Single nucleotide variant
(missense variant)
DOORS syndrome
GPathogenic
TBC1D24
(G110S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+4 more
GConflicting classifications of pathogenicity
TBC1D24
(C105R)
Single nucleotide variant
(missense variant)
DOORS syndrome
GPathogenic
TBC1D24
(R40L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+3 more
GPathogenic/Likely pathogenic
TBC1D24
(S178L)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+3 more
GPathogenic
TBC1D24
Single nucleotide variant
(synonymous variant)
not specified
+10 more
GBenign/Likely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+10 more
GBenign/Likely benign
TBC1D24
Single nucleotide variant
(intron variant)
DOORS syndrome
+8 more
GBenign/Likely benign
TBC1D24
(D70Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 86
GPathogenic
TBC1D24
Single nucleotide variant
(intron variant)
DOORS syndrome
GPathogenic
TBC1D24
(H330fs +1 more)
Deletion
(frameshift variant)
Caused by mutation in the TBC1 domain family, member 24
+6 more
GPathogenic
TBC1D24
(Q20E)
Single nucleotide variant
(missense variant)
DOORS syndrome
GPathogenic
TBC1D24
(R40C)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+4 more
GPathogenic
TBC1D24
(R242C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 16
+7 more
GPathogenic/Likely pathogenic
TBC1D24
(A509V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+5 more
GConflicting classifications of pathogenicity
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