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Items: 1 to 100 of 273

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
COQ8B
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(3 prime UTR variant)
Nephrotic syndrome, type 9
+1 more
GBenign/Likely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
(A528G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
(A486T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
(W520* +1 more)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 9
+3 more
GConflicting classifications of pathogenicity
COQ8B
(R518C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COQ8B
(A466T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
(I465fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
COQ8B
(L461F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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
(A446S +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GUncertain significance
COQ8B
(E442G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
(E483K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
(E483* +1 more)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 9
GPathogenic/Likely pathogenic
COQ8B
(C438R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
(R477Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COQ8B
(R434Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
Duplication
(inframe_insertion)
not provided
GUncertain significance
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
(R423H +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GUncertain significance
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
COQ8B
(Y455C +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COQ8B
(Q452fs +1 more)
Deletion
(frameshift variant)
Nephrotic syndrome, type 9
GPathogenic/Likely pathogenic
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
COQ8B
(E406fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COQ8B
(V401M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COQ8B
(V439M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
COQ8B
(S394F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
Single nucleotide variant
(splice acceptor variant)
Nephrotic syndrome, type 9
GPathogenic
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
Nephrotic syndrome, type 9
+1 more
GConflicting classifications of pathogenicity
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
not specified
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Deletion
(intron variant)
not provided
GBenign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GBenign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Deletion
(intron variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GBenign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
(F425Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
(V404A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
Nephrotic syndrome, type 9
+2 more
GBenign/Likely benign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Microsatellite
(intron variant)
not provided
GBenign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
COQ8B
(H359fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
COQ8B
(E355K +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GUncertain significance
COQ8B
(R350Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
(D345N +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GLikely pathogenic
COQ8B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ8B
Deletion
(intron variant)
not provided
GBenign
COQ8B
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
COQ8B
(N328T +1 more)
Single nucleotide variant
(missense variant)
COQ8B-related disorder
GUncertain significance
COQ8B
(M364I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
(M323V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
(R362* +1 more)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 9
+1 more
GPathogenic/Likely pathogenic
COQ8B
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
COQ8B
(T352R +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
COQ8B
(F307Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
(I346S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COQ8B
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
COQ8B
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
COQ8B
Single nucleotide variant
(intron variant)
Nephrotic syndrome, type 9
+1 more
GBenign/Likely benign
COQ8B
Inversion
(intron variant)
not provided
+1 more
GLikely benign
COQ8B
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
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
(R343W +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GPathogenic
COQ8B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COQ8B
(V330I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
(G282D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8B
(R320W +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 9
GPathogenic
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