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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P4HTM
(S226N)
Single nucleotide variant
(missense variant)
P4HTM-related disorder
GLikely benign
P4HTM
(I227V)
Single nucleotide variant
(missense variant)
P4HTM-related disorder
+1 more
GBenign
P4HTM
(L370R)
Single nucleotide variant
(missense variant +1 more)
P4HTM-related disorder
+1 more
GLikely benign
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