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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAT, TAT-AS1
(R433Q)
Single nucleotide variant
(missense variant)
Tyrosinemia type II
GConflicting classifications of pathogenicity
TAT, TAT-AS1
(R433W)
Single nucleotide variant
(missense variant)
Tyrosinemia type II
GPathogenic/Likely pathogenic
TAT, TAT-AS1
(R417Q)
Single nucleotide variant
(missense variant)
Tyrosinemia type II
+1 more
GConflicting classifications of pathogenicity
TAT, TAT-AS1
Single nucleotide variant
(splice donor variant)
Tyrosinemia type II
GLikely pathogenic
TAT-AS1, TAT
(A237P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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