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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH11, NDE1
(R1758Q +1 more)
Single nucleotide variant
(intron variant +1 more)
not provided
+3 more
GUncertain significance
MYH11, NDE1
(K1628Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
+6 more
GUncertain significance