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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
(R40C)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+4 more
GPathogenic
TBC1D24
(R40L)
Single nucleotide variant
(missense variant)
DOORS syndrome
+3 more
GPathogenic/Likely pathogenic
TBC1D24
(G110S)
Single nucleotide variant
(missense variant)
DOORS syndrome
+4 more
GConflicting classifications of pathogenicity
TBC1D24
(D147H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
(C156*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 1
+2 more
GPathogenic
TBC1D24
(S178L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GPathogenic
TBC1D24
(F229S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 16
+4 more
GPathogenic
TBC1D24
(R242C)
Single nucleotide variant
(missense variant)
TBC1D24-related disorder
+7 more
GPathogenic/Likely pathogenic
TBC1D24
(H330fs +1 more)
Deletion
(frameshift variant)
TBC1D24-related disorder
+6 more
GPathogenic
TBC1D24
(R360L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+7 more
GConflicting classifications of pathogenicity
TBC1D24
(A509V +1 more)
Single nucleotide variant
(missense variant)
DOORS syndrome
+5 more
GConflicting classifications of pathogenicity
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