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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NIPBL
Deletion
(inframe_deletion)
Cornelia de Lange syndrome 1
GLikely pathogenic
NIPBL
(R490H)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(P1163del)
Microsatellite
(inframe_deletion)
Cornelia de Lange syndrome 1
GUncertain significance
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