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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HOGA1
(P4fs)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(R11S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HOGA1
(K32del)
Microsatellite
(inframe_deletion)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(A36T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HOGA1
(R70*)
Single nucleotide variant
(nonsense)
Primary hyperoxaluria type 3
+1 more
GPathogenic
HOGA1
(E80K)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(L90H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HOGA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
HOGA1
(G129R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HOGA1
(V136A)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria type 3
+1 more
GUncertain significance
HOGA1
(A148V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HOGA1
(L150F)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HOGA1
(D177Y)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria type 3
GConflicting classifications of pathogenicity
HOGA1
(L178Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HOGA1
(V180M)
Single nucleotide variant
(intron variant +1 more)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(P190L)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria type 3
+1 more
GPathogenic/Likely pathogenic
HOGA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
HOGA1
Single nucleotide variant
(splice donor variant +1 more)
Primary hyperoxaluria type 3
GLikely pathogenic
HOGA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
HOGA1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GLikely pathogenic
HOGA1
Single nucleotide variant
(intron variant)
Primary hyperoxaluria type 3
+1 more
GPathogenic
HOGA1
(V76I +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
+1 more
GBenign/Likely benign
HOGA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
HOGA1
(Q249E +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(R255* +1 more)
Single nucleotide variant
(nonsense)
Primary hyperoxaluria type 3
+1 more
GPathogenic/Likely pathogenic
HOGA1
(C257G +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
+1 more
GPathogenic/Likely pathogenic
HOGA1
(R108H +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
+1 more
GPathogenic/Likely pathogenic
HOGA1
(I273T +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
+1 more
GConflicting classifications of pathogenicity
HOGA1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(R303C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(A304T +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
GUncertain significance
HOGA1
(P148S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
HOGA1
(E315del +1 more)
Microsatellite
(inframe_deletion)
HOGA1-related disorder
+2 more
GPathogenic/Likely pathogenic
HOGA1
(R155H +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
+1 more
GConflicting classifications of pathogenicity
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