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Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ2
(A100T +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2
(S297G +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2
(S316* +1 more)
Single nucleotide variant
(nonsense)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2, LOC112997540
(P20S)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2
Single nucleotide variant
(splice donor variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2
Single nucleotide variant
(splice acceptor variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2, LOC112997540
(R42*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Coenzyme Q10 deficiency, primary, 1
GLikely pathogenic
COQ2, LOC112997540
(W24* +1 more)
Single nucleotide variant
(nonsense)
Coenzyme Q10 deficiency, primary, 1
+2 more
GLikely pathogenic
COQ2, LOC112997540
(Q105H +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GUncertain significance
COQ2, LOC112997540
(G12R)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GUncertain significance
COQ2
(R270Q +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+3 more
GUncertain significance
COQ2
Single nucleotide variant
(synonymous variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GLikely benign
COQ2
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
COQ2
Single nucleotide variant
(synonymous variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GLikely benign
COQ2
Single nucleotide variant
(synonymous variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GLikely benign
COQ2, LOC112997540
(S4W +1 more)
Single nucleotide variant
(missense variant)
Multiple system atrophy 1, susceptibility to
+2 more
GUncertain significance
COQ2, LOC112997540
(A80V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
COQ2, LOC112997540
(A111V +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GUncertain significance
COQ2
(R320W +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COQ2
(A151T +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GUncertain significance
COQ2, LOC112997540
(A50G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Multiple system atrophy 1, susceptibility to
+3 more
GUncertain significance
COQ2
(P327L +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GUncertain significance
COQ2, LOC112997540
(A32T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COQ2
(G226C +1 more)
Single nucleotide variant
(missense variant)
Multiple system atrophy 1, susceptibility to
+3 more
GUncertain significance
COQ2, LOC112997540
(A28E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COQ2, LOC112997540
(Q19H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COQ2
(R123H +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GUncertain significance
COQ2
(L321Q +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GLikely pathogenic
COQ2
Single nucleotide variant
(splice donor variant)
Coenzyme Q10 deficiency, primary, 1
GLikely pathogenic
COQ2, LOC112997540
(P46S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LOC112997540, COQ2
(T39S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COQ2
(G164E +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2
(A309S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COQ2
(S297C +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GUncertain significance
COQ2, LOC112997540
(H33Y)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ8A
(S95fs)
Deletion
(frameshift variant)
Coenzyme Q10 deficiency, primary, 1
GLikely pathogenic
COQ2
(A220T +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2, LOC112997540
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2, LOC112997540
(Y74N +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GLikely pathogenic
COQ2, LOC112997540
(A97fs +1 more)
Duplication
(frameshift variant)
Coenzyme Q10 deficiency, primary, 1
+3 more
GConflicting classifications of pathogenicity
COQ2
(K407del +1 more)
Microsatellite
(inframe_deletion)
Coenzyme Q10 deficiency, primary, 1
+1 more
GUncertain significance
APTX
Single nucleotide variant
(5 prime UTR variant +3 more)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ8A
Single nucleotide variant
(stop lost)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ8A
(Q647*)
Single nucleotide variant
(nonsense)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ8A
Duplication
(3 prime UTR variant)
Coenzyme Q10 deficiency, primary, 1
GLikely pathogenic
COQ2, LOC112997540
(S107T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
COQ2
(P285R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ2
(G154S +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GUncertain significance
COQ2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
COQ2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
COQ2
Single nucleotide variant
(synonymous variant)
Multiple system atrophy 1, susceptibility to
+2 more
GLikely benign
COQ2
(N401fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
COQ2, LOC112997540
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
COQ2, LOC112997540
(A17fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
COQ2, LOC112997540
(R126H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COQ2, LOC112997540
(Q6K)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
COQ2, LOC112997540
(A43G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC112997540, COQ2
(R22*)
Single nucleotide variant
(nonsense)
Coenzyme Q10 deficiency, primary, 1
+4 more
GBenign/Likely benign
COQ2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
COQ2
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, primary, 1
+3 more
GBenign/Likely benign
COQ2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COQ2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
COQ2, LOC112997540
(V66L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
COQ2, LOC112997540
(M128V)
Single nucleotide variant
(missense variant)
Multiple system atrophy 1, susceptibility to
+3 more
GConflicting classifications of pathogenicity
COQ2
(S146N +1 more)
Single nucleotide variant
(missense variant)
Multiple system atrophy 1, susceptibility to
+1 more
GPathogenic
COQ2
(N228S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COQ2
(R197H +1 more)
Single nucleotide variant
(missense variant)
Multiple system atrophy 1, susceptibility to
+2 more
GPathogenic/Likely pathogenic
COQ2
(Y297C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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