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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALT, LOC130001683
(R67H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
GALT
(S135L +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+3 more
GPathogenic/Likely pathogenic
GALT
(R333W +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic/Likely pathogenic
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