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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM240
(A73T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 21
GUncertain significance
TMEM240
(V110I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 21
+1 more
GUncertain significance
TMEM240
(S16*)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia type 21
GUncertain significance
TMEM240
(D89N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 21
+1 more
GUncertain significance
TMEM240
(I12T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TMEM240
(L140Q)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 21
GLikely pathogenic
TMEM240
(V115M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TMEM240
(G66R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 21
+2 more
GConflicting classifications of pathogenicity
TMEM240
(R171W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMEM240
(T80M)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 21
+2 more
GConflicting classifications of pathogenicity
TMEM240
(R116C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 21
GUncertain significance
TMEM240
(Y163*)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia type 21
GPathogenic
TMEM240
(P170L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 21
+1 more
GPathogenic/Likely pathogenic
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