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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HOGA1
(P4fs)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(T47P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOGA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HOGA1
(G76D)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic/Likely pathogenic
HOGA1
(K102M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HOGA1
(P190L)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria type 3
+1 more
GPathogenic/Likely pathogenic
HOGA1
Single nucleotide variant
(intron variant)
Primary hyperoxaluria type 3
+1 more
GPathogenic
HOGA1
(C257G +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
+1 more
GPathogenic/Likely pathogenic
HOGA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HOGA1
(G287V +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
+1 more
GPathogenic/Likely pathogenic
HOGA1
(R140H +1 more)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria type 3
+1 more
GConflicting classifications of pathogenicity
HOGA1
(E315del +1 more)
Microsatellite
(inframe_deletion)
HOGA1-related disorder
+2 more
GPathogenic/Likely pathogenic
HOGA1
(R155C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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