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Links from Gene

Items: 1 to 100 of 330

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130002710, LOC130002711
+43 more
Duplication
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
AK1, BBLN
+32 more
Deletion
Developmental and epileptic encephalopathy, 31A
+1 more
GPathogenic
SH3GLB2, SLC25A25
+70 more
Duplication
Dystonic disorder
GUncertain significance
COQ4
(N134D)
Single nucleotide variant
(stop lost +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(R28Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COQ4
(Q19*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GLikely pathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
COQ4
Single nucleotide variant
(synonymous variant)
COQ4-related disorder
GLikely benign
COQ4, LOC130002704
(T44fs)
Microsatellite
(frameshift variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GPathogenic
COQ4
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(splice donor variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely pathogenic
COQ4, LOC130002704
(Q48*)
Single nucleotide variant
(nonsense)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GPathogenic
COQ4
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(H163R)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(P90H)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(R74P)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(S94N)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4, LOC130002704
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(R145C)
Single nucleotide variant
(missense variant +1 more)
Spastic ataxia 10, autosomal recessive
GPathogenic
COQ4
(R30*)
Duplication
(nonsense)
Spastic ataxia 10, autosomal recessive
GPathogenic
COQ4
(R240H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Spastic ataxia 10, autosomal recessive
GPathogenic
COQ4
(R145H)
Single nucleotide variant
(missense variant +1 more)
Spastic ataxia 10, autosomal recessive
GPathogenic
COQ4
(R249W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Spastic ataxia 10, autosomal recessive
GPathogenic
COQ4
(H260R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
COQ4
(H260Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
COQ4
(A265V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(T77I)
Single nucleotide variant
(missense variant +1 more)
Developmental disorder
GLikely pathogenic
ABCA2, ABL1
+187 more
Duplication
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Duplication
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(L252M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
COQ4
(R239Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
COQ4
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(R249Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4, LOC130002704
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(E161G)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(A93T +1 more)
Single nucleotide variant
(missense variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(S91L)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(R205*)
Single nucleotide variant
(nonsense +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GPathogenic
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(Q88E)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(R104Q +1 more)
Single nucleotide variant
(missense variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4, LOC130002704
(S45C)
Single nucleotide variant
(missense variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(E250K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(M1R)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(L170Q)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(Y62C)
Single nucleotide variant
(missense variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(S31N)
Single nucleotide variant
(missense variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(A22T)
Single nucleotide variant
(missense variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(W221*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GPathogenic
COQ4
Single nucleotide variant
(splice donor variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely pathogenic
COQ4
(E75*)
Single nucleotide variant
(nonsense +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GPathogenic
COQ4
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(L118V)
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(R228T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(R104W)
Single nucleotide variant
(synonymous variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(G68E)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(D32Y)
Single nucleotide variant
(missense variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(V261I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4, LOC130002704
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
Single nucleotide variant
(intron variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
Single nucleotide variant
(synonymous variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GLikely benign
COQ4
(D164N)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(M165V)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
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