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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ7
(A144fs +5 more)
Indel
(frameshift variant +1 more)
Primary coenzyme Q10 deficiency 8
GPathogenic
COQ7
(M112V +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary coenzyme Q10 deficiency 8
GPathogenic
COQ7
(V59D +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary coenzyme Q10 deficiency 8
GUncertain significance
COQ7, COQ7-DT
+1 more
(R16fs)
Duplication
(frameshift variant +1 more)
Primary coenzyme Q10 deficiency 8
GLikely pathogenic
COQ7
(R16W +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary coenzyme Q10 deficiency 8
GUncertain significance
COQ7, COQ7-DT
+1 more
(M1L)
Single nucleotide variant
(missense variant +2 more)
Primary coenzyme Q10 deficiency 8
GLikely pathogenic
COQ7
(L73P +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary coenzyme Q10 deficiency 8
GPathogenic
COQ7
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary coenzyme Q10 deficiency 8
GUncertain significance
COQ7
(Y151fs +5 more)
Microsatellite
(frameshift variant +1 more)
Primary coenzyme Q10 deficiency 8
GPathogenic
COQ7, COQ7-DT
+1 more
(M1I)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COQ7
(Y135C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
(R107W +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary coenzyme Q10 deficiency 8
+1 more
GConflicting classifications of pathogenicity
COQ7
(K139fs +5 more)
Indel
(frameshift variant +1 more)
Primary coenzyme Q10 deficiency 8
GLikely pathogenic
COQ7
Single nucleotide variant
(intron variant)
Primary coenzyme Q10 deficiency 8
+1 more
GBenign
COQ7, LOC130058587
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
COQ7
(T89M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
COQ7, COQ7-DT
+1 more
(C3*)
Single nucleotide variant
(nonsense +1 more)
Primary coenzyme Q10 deficiency 8
GUncertain significance
COQ7
(R54Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COQ7
(V141E +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary coenzyme Q10 deficiency 8
GPathogenic
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