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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
(R360L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+7 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)
DOORS syndrome
+3 more
GPathogenic/Likely pathogenic
TBC1D24
(S178L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
TBC1D24
(R293P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 86
GPathogenic
TBC1D24
(D70Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 86
GPathogenic
TBC1D24
(H330fs +1 more)
Deletion
(frameshift variant)
TBC1D24-related disorder
+6 more
GPathogenic
TBC1D24
(R40C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+4 more
GPathogenic
TBC1D24
(R242C)
Single nucleotide variant
(missense variant)
TBC1D24-related disorder
+7 more
GPathogenic/Likely pathogenic
TBC1D24
(C156*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 1
+2 more
GPathogenic
TBC1D24
(F229S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 16
+4 more
GPathogenic
TBC1D24
Microsatellite
(intron variant)
Developmental and epileptic encephalopathy, 16
GPathogenic
TBC1D24
(F251L)
Single nucleotide variant
(missense variant)
Familial infantile myoclonic epilepsy
GPathogenic
TBC1D24
(A509V +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TBC1D24
(D147H)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GPathogenic
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