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Links from MedGen

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UROS
Deletion
(intron variant)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(intron variant)
Cutaneous porphyria
+1 more
GBenign
UROS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
UROS
(V3F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
(P18L)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
(L36V)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
(G57R)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
(T220M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
UROS
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutaneous porphyria
GLikely benign
UROS
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UROS
(Y19C)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
Cutaneous porphyria
GBenign
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
Cutaneous porphyria
GBenign
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
Cutaneous porphyria
GLikely benign
UROS
Single nucleotide variant
(intron variant)
Cutaneous porphyria
GLikely benign
UROS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
UROS
(E84A)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
+1 more
GUncertain significance
UROS
(K109N)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
+1 more
GUncertain significance
UROS
(D113V)
Single nucleotide variant
(missense variant +1 more)
UROS-related condition
+2 more
GBenign/Likely benign
UROS
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UROS
(V144A +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
+1 more
GConflicting classifications of pathogenicity
UROS
(V171G +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
+1 more
GBenign
UROS
(A231T +2 more)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutaneous porphyria
GBenign
UROS
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutaneous porphyria
GUncertain significance
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
UROS
(A104V)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
Gnot provided
UROS
(S47P)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
Gnot provided
GATA1
Single nucleotide variant
(missense variant)
GATA1-related condition
+2 more
GLikely pathogenic
UROS
Single nucleotide variant
(intron variant)
Cutaneous porphyria
GPathogenic
UROS
(P248Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
Duplication
(intron variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
Single nucleotide variant
(splice donor variant)
UROS-related condition
+1 more
GPathogenic/Likely pathogenic
UROS
(G225S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
UROS
Single nucleotide variant
(intron variant)
Cutaneous porphyria
GPathogenic
UROS
Single nucleotide variant
(intron variant)
not provided
GPathogenic
UROS
Single nucleotide variant
(intron variant)
not provided
GPathogenic
UROS
Single nucleotide variant
(5 prime UTR variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
(G188W +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
(E81D)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
(G188R +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
(V82F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UROS
Insertion
Cutaneous porphyria
GPathogenic
UROS
Deletion
Cutaneous porphyria
GPathogenic
UROS
(L4F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
UROS
(T228M +2 more)
Single nucleotide variant
(missense variant +1 more)
UROS-related condition
+2 more
GConflicting classifications of pathogenicity
UROS
(T62A)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
(A66V)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
(P53L)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
GPathogenic
UROS
(C73R)
Single nucleotide variant
(missense variant +1 more)
Cutaneous porphyria
+1 more
GPathogenic
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