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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HGD
(H371fs)
Duplication
(frameshift variant)
Alkaptonuria
GPathogenic
HGD
(M368V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
HGD
(V300G)
Single nucleotide variant
(missense variant)
Alkaptonuria
GPathogenic/Likely pathogenic
HGD
(G270R)
Single nucleotide variant
(missense variant)
Alkaptonuria
GPathogenic/Likely pathogenic
HGD
(P230S)
Single nucleotide variant
(missense variant)
Alkaptonuria
GPathogenic
HGD
(G161R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HGD
(D153fs)
Duplication
(frameshift variant)
Alkaptonuria
GPathogenic
HGD
(C120W)
Single nucleotide variant
(missense variant)
Alkaptonuria
GPathogenic
HGD
Single nucleotide variant
(splice donor variant)
Alkaptonuria
GLikely pathogenic
HGD
(S59fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
HGD
Single nucleotide variant
(splice acceptor variant)
Alkaptonuria
GPathogenic
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