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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMPD1
(R443* +3 more)
Single nucleotide variant
(nonsense +1 more)
Sphingomyelin/cholesterol lipidosis
+4 more
GPathogenic
SMPD1
(V558fs +3 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
+2 more
GPathogenic/Likely pathogenic