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Links from Gene

Items: 1 to 100 of 228

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ7
Single nucleotide variant
(splice donor variant)
COQ7-related disorder
GUncertain significance
COQ7
Single nucleotide variant
(intron variant)
COQ7-related disorder
GUncertain significance
COQ7, COQ7-DT
+1 more
(C3S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COQ7
(I189F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COQ7
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
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, COQ7-DT
+1 more
Duplication
(5 prime UTR variant +1 more)
COQ7-related disorder
GUncertain significance
COQ7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
(K53E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7, LOC130058587
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
COQ7
(N29S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7, LOC130058587
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7, LOC130058587
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CCP110, CLEC19A
+9 more
Copy number gain
not provided
GUncertain significance
COQ7, COQ7-DT
+1 more
(A6fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
COQ7
(D175E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COQ7
(V59D +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary coenzyme Q10 deficiency 8
GUncertain significance
COQ7
(L156R +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, autosomal recessive 9
GPathogenic
COQ7
(L156Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, autosomal recessive 9
GPathogenic
COQ7
Single nucleotide variant
(splice acceptor variant)
Neuronopathy, distal hereditary motor, autosomal recessive 9
GPathogenic
COQ7, COQ7-DT
+1 more
(M1V)
Single nucleotide variant
(missense variant +2 more)
Neuronopathy, distal hereditary motor, autosomal recessive 9
GPathogenic
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, LOC130058588
Deletion
(intron variant +1 more)
not provided
GLikely benign
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, COQ7-DT
+1 more
(A6V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL6IP1, COQ7
+3 more
Duplication
not provided
GUncertain significance
COQ7
Duplication
not provided
GUncertain significance
COQ7
Deletion
not provided
GUncertain significance
COQ7
(R38W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
(G116R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7, COQ7-DT
+1 more
(G5R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
COQ7
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
COQ7
(H150R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
COQ7
(T141M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
(V175I +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
COQ7, LOC130058587
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
COQ7, LOC130058587
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COQ7
(A127P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7, LOC130058587
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
COQ7
(L27fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
(Y23C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
(N60T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
(G145R +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COQ7
(R32Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
COQ7
(A96V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7, LOC130058587
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130058587, COQ7
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
COQ7
(I142M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC130058587, COQ7
+1 more
(A9del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
COQ7, LOC130058587
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
(P94T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ7
(R76Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
(T2A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7, LOC130058587
(S22F)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
COQ7
(L192V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
COQ7, LOC130058587
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
(L156V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
(V68fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
(A68G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7, COQ7-DT
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COQ7
(Q131H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COQ7
(F59L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COQ7, COQ7-DT
+1 more
(A8V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7, LOC130058587
(A19S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
COQ7, LOC130058587
(R16L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
COQ7
(A146T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
(R107Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
COQ7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COQ7, LOC130058587
(A19T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
(N98D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ7
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
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