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Items: 1 to 100 of 655

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
Duplication
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Deletion
Developmental and epileptic encephalopathy, 1
+2 more
GPathogenic
TBC1D24
(M1V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(G5R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GUncertain significance
TBC1D24
(Y6H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(C8R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+6 more
GBenign/Likely benign
TBC1D24
(C8W)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
TBC1D24
(V10M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 16
+4 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
(M15I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+3 more
GLikely benign
TBC1D24
(A17T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GConflicting classifications of pathogenicity
TBC1D24
(I19fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 1
+2 more
GPathogenic
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(Q20*)
Single nucleotide variant
(nonsense)
Caused by mutation in the TBC1 domain family, member 24
+3 more
GPathogenic
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
(G23R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBC1D24
(G23E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
(E26K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(E26L)
Indel
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(C29F)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
(T30A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Familial infantile myoclonic epilepsy
+5 more
GConflicting classifications of pathogenicity
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
(L32R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
(A39P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
(A39V)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+8 more
GPathogenic
TBC1D24
(A39E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+4 more
GConflicting classifications of pathogenicity
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+3 more
GLikely benign
TBC1D24
(R40C)
Single nucleotide variant
(missense variant)
DOORS syndrome
+4 more
GPathogenic
TBC1D24
(R40P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(R40H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+4 more
GPathogenic/Likely pathogenic
TBC1D24
(R40L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GPathogenic/Likely pathogenic
TBC1D24
(Q41*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
TBC1D24
(W44*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
TBC1D24
(W44*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
(H48L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
(H48Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
TBC1D24
(A49T)
Single nucleotide variant
(missense variant)
Familial infantile myoclonic epilepsy
+3 more
GUncertain significance
TBC1D24
(R51W)
Single nucleotide variant
(missense variant)
Familial infantile myoclonic epilepsy
+4 more
GUncertain significance
TBC1D24
(R51Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(G52R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBC1D24
(G52E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(V54L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
(Q56L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBC1D24
(R57C)
Single nucleotide variant
(missense variant)
Familial infantile myoclonic epilepsy
+6 more
GConflicting classifications of pathogenicity
TBC1D24
(R57H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GUncertain significance
TBC1D24
Deletion
(nonsense)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GPathogenic
TBC1D24
(R60W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TBC1D24
(R60P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(R60Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
TBC1D24
(D61Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(I62V)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+3 more
GUncertain significance
TBC1D24
(P63S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(R65C)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+4 more
GConflicting classifications of pathogenicity
TBC1D24
(R65H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(T66R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(T66M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(V67L)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+4 more
GUncertain significance
TBC1D24
(T68R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+6 more
GBenign
TBC1D24
(D70E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+4 more
GLikely benign
TBC1D24
(A71T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
TBC1D24
(S72N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
(V73M)
Single nucleotide variant
(missense variant)
DOORS syndrome
+9 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+3 more
GLikely benign
TBC1D24
(D76N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(D76G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(I77F)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy, 1
+9 more
GConflicting classifications of pathogenicity
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(V78M)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+3 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
TBC1D24
(V82M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GUncertain significance
TBC1D24
(V82L)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(G83C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(H85D)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(H85Y)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(S86N)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+3 more
GUncertain significance
TBC1D24
(S87G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(S88N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
(P91fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 1
+2 more
GPathogenic
TBC1D24
(P91L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
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