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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PITRM1
(R110Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia, autosomal recessive 30
+1 more
GUncertain significance
PITRM1
(T931M +8 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia, autosomal recessive 30
GPathogenic
PITRM1
(R183Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Spinocerebellar ataxia, autosomal recessive 30
GPathogenic
PITRM1
Insertion
not provided
+2 more
GConflicting classifications of pathogenicity
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