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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HOGA1
(P4fs)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(S9del)
Microsatellite
(inframe_deletion)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(K32del)
Microsatellite
(inframe_deletion)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(G37V)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
GConflicting classifications of pathogenicity
HOGA1
(V42fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(R70*)
Single nucleotide variant
(nonsense)
Primary hyperoxaluria type 3
+1 more
GPathogenic
HOGA1
(V74G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(R97C)
Single nucleotide variant
(missense variant +1 more)
HOGA1-related disorder
+2 more
GConflicting classifications of pathogenicity
HOGA1
(E113K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
Single nucleotide variant
(splice acceptor variant +1 more)
Primary hyperoxaluria type 3
+1 more
GLikely pathogenic
HOGA1
(A133V)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(V135fs)
Deletion
(frameshift variant +1 more)
Primary hyperoxaluria type 3
GLikely pathogenic
HOGA1
(P138fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(L150fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(D177Y)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria type 3
GConflicting classifications of pathogenicity
HOGA1
(P179T)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(T212A)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria type 3
GConflicting classifications of pathogenicity
HOGA1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GLikely pathogenic
HOGA1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
HOGA1
(G75fs +1 more)
Deletion
(frameshift variant)
Primary hyperoxaluria type 3
GConflicting classifications of pathogenicity
HOGA1
(Q249E +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(C251S +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(Q266* +1 more)
Single nucleotide variant
(nonsense)
Primary hyperoxaluria type 3
GLikely pathogenic
HOGA1
Single nucleotide variant
(splice donor variant)
Primary hyperoxaluria type 3
GLikely pathogenic
HOGA1
(G287V +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
+1 more
GPathogenic/Likely pathogenic
HOGA1
Duplication
(inframe_insertion)
Primary hyperoxaluria type 3
+1 more
GConflicting classifications of pathogenicity
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