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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ST3GAL5
(R416L +5 more)
Single nucleotide variant
(missense variant)
GM3 synthase deficiency
+3 more
GUncertain significance
ST3GAL5
(R288* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
LOC129934236, ST3GAL5
(P24S)
Single nucleotide variant
(5 prime UTR variant +1 more)
GM3 synthase deficiency
GUncertain significance
ST3GAL5, LOC129934236
(P13S)
Single nucleotide variant
(5 prime UTR variant +1 more)
GM3 synthase deficiency
+2 more
GBenign
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