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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
(C191R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 16
+1 more
GUncertain significance
TBC1D24
(S366Y +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 16
GUncertain significance
TBC1D24
Single nucleotide variant
(intron variant)
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
+3 more
GUncertain significance
TBC1D24
(W545* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 16
GLikely pathogenic
TBC1D24
(P282S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 16
GUncertain significance
TBC1D24
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 16
GUncertain significance
TBC1D24
(W215fs)
Deletion
(frameshift variant)
Caused by mutation in the TBC1 domain family, member 24
+6 more
GPathogenic
TBC1D24
(A465T +1 more)
Single nucleotide variant
(missense variant)
Familial infantile myoclonic epilepsy
+7 more
GUncertain significance
TBC1D24
(E148K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+3 more
GConflicting classifications of pathogenicity
TBC1D24
(V73M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+9 more
GUncertain significance
TBC1D24
(V10M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
TBC1D24
(L245P)
Single nucleotide variant
(missense variant)
DOORS syndrome
+8 more
GUncertain significance
TBC1D24
(R270C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+8 more
GUncertain significance
TBC1D24
(A289V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GLikely pathogenic
TBC1D24
(G509R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+4 more
GConflicting classifications of pathogenicity
DOORS syndrome
+2 more
GLikely pathogenic
TBC1D24
(P455fs +1 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 1
+8 more
GPathogenic/Likely pathogenic
TBC1D24
(I545V +1 more)
Single nucleotide variant
(missense variant)
Familial infantile myoclonic epilepsy
+8 more
GUncertain significance
TBC1D24
(A476D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 86
+10 more
GBenign/Likely benign
TBC1D24
(D147N)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
TBC1D24
(E443K +1 more)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+9 more
GConflicting classifications of pathogenicity
TBC1D24
(R293H)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
TBC1D24
(F412S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
TBC1D24
(A291T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GUncertain significance
TBC1D24
(S202L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 86
+8 more
GUncertain significance
TBC1D24
(E153K)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+9 more
GConflicting classifications of pathogenicity
TBC1D24
(G165S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
TBC1D24
(R360L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+7 more
GConflicting classifications of pathogenicity
TBC1D24
Single nucleotide variant
(synonymous variant)
not specified
+10 more
GBenign/Likely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
not specified
+10 more
GBenign/Likely benign
TBC1D24
Single nucleotide variant
(intron variant)
DOORS syndrome
+8 more
GBenign/Likely benign
TBC1D24
(R242C)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
TBC1D24
(C156*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 16
GPathogenic
TBC1D24
(F229S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
TBC1D24
Microsatellite
(intron variant)
Developmental and epileptic encephalopathy, 16
GPathogenic
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