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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862019, TDP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
LOC126862019, TDP1
(Y7H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126862019, TDP1
(R9G)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
GUncertain significance
LOC126862019, TDP1
(P23L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
GUncertain significance
LOC126862019, TDP1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
GUncertain significance
TDP1, LOC126862019
(Y46C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126862019, TDP1
(S70T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126862019, TDP1
(S79T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
+1 more
GUncertain significance
LOC126862019, TDP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LOC126862019, TDP1
(P101L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
LOC126862019, TDP1
(A118V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
GUncertain significance
LOC126862019, TDP1
(A134T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
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