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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(R242C)
Single nucleotide variant
(missense variant)
TBC1D24-related disorder
+7 more
GPathogenic/Likely pathogenic
TBC1D24
Microsatellite
(intron variant)
Developmental and epileptic encephalopathy, 16
GPathogenic
TBC1D24
(R360L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+7 more
GConflicting classifications of pathogenicity
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