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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEGF8
(R937W +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
+2 more
GUncertain significance
MEGF8
Single nucleotide variant
(intron variant)
MEGF8-related Carpenter syndrome
GBenign/Likely benign