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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRAPPC14
(R153H +1 more)
Single nucleotide variant
(missense variant)
TRAPPC14-related disorder
GLikely benign
TRAPPC14
Single nucleotide variant
(intron variant)
TRAPPC14-related disorder
GLikely benign
TRAPPC14
Single nucleotide variant
(synonymous variant)
TRAPPC14-related disorder
GBenign
TRAPPC14
(V184I)
Single nucleotide variant
(5 prime UTR variant +1 more)
TRAPPC14-related disorder
+1 more
GBenign/Likely benign
LOC129998908, TRAPPC14
Single nucleotide variant
(synonymous variant +1 more)
TRAPPC14-related disorder
GLikely benign
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