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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYLK4, WRNIP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYLK4, WRNIP1
(R253C)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MYLK4, WRNIP1
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
BPHL, EXOC2
+19 more
Copy number loss
not provided
GPathogenic
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