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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UQCRC2
Single nucleotide variant
(splice donor variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
PDZD9, UQCRC2
(L244fs)
Duplication
(frameshift variant)
Mitochondrial complex III deficiency nuclear type 5
GLikely pathogenic
PDZD9, UQCRC2
(F146S)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
PDZD9, UQCRC2
(G397R)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
PDZD9, UQCRC2
(V419fs)
Duplication
(frameshift variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
UQCRC2
(S69N)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
PDZD9, UQCRC2
(L89P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDZD9, UQCRC2
(G108D)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GPathogenic
PDZD9, UQCRC2
(I221F)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
PDZD9, UQCRC2
(S410P)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
PDZD9, UQCRC2
(G222A)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GPathogenic
PDZD9, UQCRC2
(Q318P)
Single nucleotide variant
(missense variant)
UQCRC2-related disorder
+2 more
GBenign/Likely benign
PDZD9, UQCRC2
(Y121H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UQCRC2, PDZD9
(R183Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PDZD9, UQCRC2
(R183W)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
+1 more
GPathogenic/Likely pathogenic
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