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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSEN34
(L289fs)
Duplication
(frameshift variant)
Pontocerebellar hypoplasia type 2C
GLikely pathogenic
TSEN34
(S131L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TSEN34
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSEN34
(R58W)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2C
GPathogenic
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