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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ8B
(R449C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
COQ8B
(H448Y +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GUncertain significance
COQ8B
(R477Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COQ8B
Single nucleotide variant
(splice acceptor variant)
Nephrotic syndrome, type 9
GPathogenic
COQ8B
(R362* +1 more)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 9
+1 more
GPathogenic/Likely pathogenic
COQ8B
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COQ8B
Single nucleotide variant
(splice donor variant)
Nephrotic syndrome, type 9
GPathogenic
COQ8B
(D209H +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GConflicting classifications of pathogenicity
COQ8B
(S205N +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
+1 more
GConflicting classifications of pathogenicity
COQ8B
(R139C +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GUncertain significance
COQ8B
(R178W +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
+2 more
GPathogenic/Likely pathogenic
COQ8B
(T12fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 9
GPathogenic
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