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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMBS
Microsatellite
(splice acceptor variant)
not provided
GUncertain significance
HMBS
(R304H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DPAGT1, HMBS
(I393V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
DPAGT1, HMBS
(F332V)
Single nucleotide variant
(missense variant)
DPAGT1-related condition
+4 more
GConflicting classifications of pathogenicity
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