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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCAL1
(E848*)
Single nucleotide variant
(nonsense)
Decreased body weight
+10 more
GPathogenic
SMARCAL1
(G857E)
Single nucleotide variant
(missense variant)
Schimke immuno-osseous dysplasia
GLikely pathogenic