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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGM6
(P26S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 35
+5 more
GUncertain significance
CPT2
(Y479F)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
CPT2
(K79T)
Single nucleotide variant
(missense variant)
CPT2-related disorder
+14 more
GUncertain significance
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