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Items: 1 to 100 of 896

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112340388, LOC112441449
+821 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
OR1F1, OR2C1
+916 more
Copy number gain
See cases
GPathogenic
LOC130058195, LOC130058196
+556 more
Copy number gain
See cases
GPathogenic
RMI2, RNF151
+842 more
Copy number gain
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
LOC130058340, LOC130058341
+925 more
Copy number gain
See cases
GPathogenic
LOC130058242, LOC130058243
+49 more
Copy number loss
See cases
GUncertain significance
AMDHD2, ATP6V0C
+58 more
Copy number loss
See cases
GUncertain significance
AMDHD2, ATP6V0C
+36 more
Copy number loss
See cases
GUncertain significance
AMDHD2, ATP6V0C
+59 more
Copy number loss
See cases
GLikely pathogenic
LOC130058245, TBC1D24
Microsatellite
(5 prime UTR variant)
not specified
GLikely benign
LOC130058245, TBC1D24
Single nucleotide variant
(5 prime UTR variant)
Familial infantile myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
LOC130058245, TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC130058245, TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC130058245, TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC130058245, TBC1D24
Single nucleotide variant
(intron variant)
not specified
GLikely benign
LOC130058245, TBC1D24
Single nucleotide variant
(intron variant)
not specified
GLikely benign
LOC130058245, TBC1D24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBC1D24
Single nucleotide variant
(intron variant)
not provided
GBenign
TBC1D24
Single nucleotide variant
(intron variant)
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
+3 more
GUncertain significance
AMDHD2, ATP6V0C
+148 more
Copy number loss
See cases
GPathogenic
TBC1D24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBC1D24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBC1D24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBC1D24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBC1D24
Single nucleotide variant
(intron variant)
not specified
GLikely benign
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
Familial infantile myoclonic epilepsy
GUncertain significance
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
Familial infantile myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
Familial infantile myoclonic epilepsy
GUncertain significance
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
Familial infantile myoclonic epilepsy
GUncertain significance
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
Familial infantile myoclonic epilepsy
GUncertain significance
TBC1D24
Deletion
(5 prime UTR variant)
not provided
GLikely benign
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
Familial infantile myoclonic epilepsy
GUncertain significance
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
TBC1D24
Duplication
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Deletion
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(5 prime UTR variant)
Familial infantile myoclonic epilepsy
GUncertain significance
TBC1D24
(M1V)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(G5R)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+3 more
GUncertain significance
TBC1D24
(N7S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBC1D24
(C8R)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+6 more
GBenign/Likely benign
TBC1D24
(C8W)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
TBC1D24
(V10M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(D13N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
(M15I)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+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)
not provided
+3 more
GConflicting classifications of pathogenicity
TBC1D24
(I19fs)
Deletion
(frameshift variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GPathogenic
TBC1D24
(Q20*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
TBC1D24
(Q20E)
Single nucleotide variant
(missense variant)
DOORS syndrome
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)
Developmental and epileptic encephalopathy, 1
+3 more
GUncertain significance
TBC1D24
(G23E)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+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
(E26K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(E26L)
Indel
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(E26A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBC1D24
(C29F)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+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)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+5 more
GConflicting classifications of pathogenicity
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(L32R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(A39P)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GPathogenic
TBC1D24
(A39V)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+3 more
GPathogenic
TBC1D24
(A39E)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TBC1D24
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
TBC1D24
(R40C)
Single nucleotide variant
(missense variant)
DOORS syndrome
+4 more
GPathogenic
TBC1D24
(R40H)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+3 more
GPathogenic/Likely pathogenic
TBC1D24
(R40L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+3 more
GPathogenic/Likely pathogenic
TBC1D24
(Q41*)
Single nucleotide variant
(nonsense)
Caused by mutation in the TBC1 domain family, member 24
+3 more
GPathogenic
TBC1D24
(W44R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBC1D24
(W44*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 1
+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)
Caused by mutation in the TBC1 domain family, member 24
+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
(H48Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TBC1D24
(A49T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GUncertain significance
TBC1D24
(R51W)
Single nucleotide variant
(missense variant)
Familial infantile myoclonic epilepsy
+1 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)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(V54L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+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)
Caused by mutation in the TBC1 domain family, member 24
+3 more
GUncertain significance
TBC1D24
(R57C)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
TBC1D24
(R57H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBC1D24
Deletion
(nonsense)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
(I59M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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