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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
QRSL1
(Q499*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation deficiency 40
GUncertain significance
QRSL1
(R58I)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 40
GUncertain significance
QRSL1
(S226L)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 40
GUncertain significance
LOC129996910, QRSL1
+1 more
(L6F)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 40
+2 more
GUncertain significance
QRSL1
Deletion
(intron variant)
Combined oxidative phosphorylation deficiency 40
GBenign
QRSL1
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation deficiency 40
+1 more
GBenign
QRSL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
QRSL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
QRSL1
(G117E)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 40
GPathogenic
QRSL1
(A427L)
Indel
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
QRSL1
(G133V)
Single nucleotide variant
(missense variant)
Cardiomyopathy, mitochondrial
+1 more
GPathogenic/Likely pathogenic
QRSL1
(Y185*)
Single nucleotide variant
(nonsense)
Cardiomyopathy, mitochondrial
GPathogenic
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