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Items: 1 to 100 of 409

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAL, CATSPER2
+69 more
Copy number loss
See cases
GLikely pathogenic
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant cerebellar ataxia
GLikely benign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GLikely benign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GBenign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
+1 more
GConflicting classifications of pathogenicity
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
+1 more
GBenign/Likely benign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Duplication
(3 prime UTR variant)
Autosomal dominant cerebellar ataxia
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GLikely benign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GLikely benign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GBenign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GBenign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GLikely benign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GLikely benign
TTBK2
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 11
GLikely benign
TTBK2
(K1241T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TTBK2
(S1236G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
TTBK2
(E1207G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
Deletion
(inframe_indel)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
(S1197A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(S1195P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(H1194P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(S1182Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TTBK2
(S1181A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(S1180N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
(H1176D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
(R1173Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(R1173W)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 11
GBenign
TTBK2
(S1166F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(R1162H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(R1162C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TTBK2
(R1156*)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia type 11
GLikely pathogenic
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
(R1149G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(R1148H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
(P1144L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(S1143G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 11
+1 more
GLikely benign
TTBK2
(P1140S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TTBK2
(R1123Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TTBK2
(R1123W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTBK2
(P1122R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TTBK2
(P1122S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TTBK2
(L1115P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(Q1113R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
(L1111V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTBK2
(R1110L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 11
GUncertain significance
TTBK2
(R1110H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 11
+3 more
GConflicting classifications of pathogenicity
TTBK2
(R1110C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(L1107fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
TTBK2
(D1104N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TTBK2
(S1100R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(V1097A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TTBK2
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
TTBK2
Single nucleotide variant
(intron variant)
not provided
GBenign
TTBK2
Single nucleotide variant
(intron variant)
not provided
GBenign
TTBK2
Single nucleotide variant
(intron variant)
not provided
GBenign
TTBK2
Deletion
(intron variant)
not provided
GLikely benign
TTBK2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
(T1084M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
(S1070L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(S1068L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TTBK2
(S1067G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TTBK2
(T1062I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
TTBK2
(V1057F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(P1054L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(I1044V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
(S1033T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TTBK2
(L1026P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
(A1012V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTBK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK2
(A1008T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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