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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UROS
(G225S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
UROS
(A104V)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
Gnot provided
UROS
(V82F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UROS
(C73R)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
+1 more
GPathogenic
UROS
(A66V)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
(S47P)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
Gnot provided
UROS
Single nucleotide variant
(intron variant)
not provided
GPathogenic
UROS
Single nucleotide variant
(intron variant)
Cutaneous porphyria
GPathogenic
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
GATA1
Single nucleotide variant
(missense variant)
GATA1-related condition
+2 more
GLikely pathogenic
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