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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGM6
(R13Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TGM6
(I164N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 35
GUncertain significance
TGM6
(G180R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGM6
(G244S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGM6
(S300fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TGM6
(D510H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 35
+2 more
GUncertain significance
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