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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ4, LOC130002704
(L52S)
Single nucleotide variant
(missense variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GPathogenic
COQ4
(P64S)
Single nucleotide variant
(missense variant)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
COQ4
(R141*)
Single nucleotide variant
(nonsense +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GPathogenic
COQ4
(R145G)
Single nucleotide variant
(missense variant +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GPathogenic
COQ4
(T174del)
Microsatellite
(inframe_deletion +1 more)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GPathogenic
COQ4
(R240C)
Single nucleotide variant
(missense variant +1 more)
COQ4-related condition
+4 more
GPathogenic/Likely pathogenic
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