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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
(R360L +1 more)
Single nucleotide variant
(missense variant)
Abnormality of the nervous system
+7 more
GConflicting classifications of pathogenicity
KCNE3, LIPT2
(R83H)
Single nucleotide variant
(missense variant)
Brugada syndrome 6
+8 more
GConflicting classifications of pathogenicity