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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADSL
(K147M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
ADSL
(T354A +1 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
+1 more
GUncertain significance
ADSL
(R426H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic
ADSL
(S448P +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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