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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ8B
(E483* +1 more)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 9
GPathogenic/Likely pathogenic
COQ8B
(R477Q +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
+1 more
GPathogenic/Likely pathogenic
COQ8B
(Q452fs +1 more)
Deletion
(frameshift variant)
Nephrotic syndrome, type 9
GPathogenic/Likely pathogenic
COQ8B
(H359fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
COQ8B
(R343W +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GPathogenic
COQ8B
(R320W +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GPathogenic
COQ8B
Duplication
(inframe_insertion)
Nephrotic syndrome, type 9
Gnot provided
COQ8B
(D286G +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GPathogenic
COQ8B
(F174fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
COQ8B
(R178W +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
+1 more
GConflicting classifications of pathogenicity
COQ8B
(W34*)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 9
Gnot provided
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