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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
(R40L)
Single nucleotide variant
(missense variant)
DOORS syndrome
+3 more
GPathogenic/Likely pathogenic
TBC1D24
(P135L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+3 more
GConflicting classifications of pathogenicity
TBC1D24
(S178L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GPathogenic
TBC1D24
(R242C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
TBC1D24
(H330fs +1 more)
Deletion
(frameshift variant)
TBC1D24-related condition
+6 more
GPathogenic
KCNQ2
Indel
(nonsense)
Seizures, benign familial neonatal, 1
GPathogenic
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