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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COX20, LOC129932912
Single nucleotide variant
(splice donor variant +1 more)
Mitochondrial complex 4 deficiency, nuclear type 11
GPathogenic
COX20, HNRNPU-AS1
(E61fs +3 more)
Duplication
(frameshift variant +1 more)
Mitochondrial complex 4 deficiency, nuclear type 11
GLikely pathogenic
COX20, LOC129932912
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
COX20
(I102T +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+1 more
GUncertain significance
COX20
(S127G +2 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+1 more
GUncertain significance
COX20
(Y101H +2 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+1 more
GUncertain significance
COX20
(H112Y +2 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+1 more
GUncertain significance
COX20
(Q42* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
COX20
Single nucleotide variant
(intron variant)
Mitochondrial complex 4 deficiency, nuclear type 11
GPathogenic
COX20
(S45L)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
GPathogenic
COX20
(W29C +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
GPathogenic
COX20
(M1T)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+1 more
GConflicting classifications of pathogenicity
HNRNPU-AS1, COX20
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+1 more
GLikely benign
COX20
(G114S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
COX20, LOC129932912
(K14R)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic
COX20, HNRNPU-AS1
Single nucleotide variant
(intron variant)
Mitochondrial complex 4 deficiency, nuclear type 11
+3 more
GConflicting classifications of pathogenicity
COX20
Single nucleotide variant
(intron variant)
Mitochondrial complex 4 deficiency, nuclear type 11
+1 more
GPathogenic/Likely pathogenic
COX20, HNRNPU-AS1
(D107N +2 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+1 more
GUncertain significance
COX20
(V69M +2 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+1 more
GUncertain significance
COX20
(R31W +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+2 more
GConflicting classifications of pathogenicity
COX20
(A3S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 4 deficiency, nuclear type 11
+2 more
GBenign/Likely benign
COX20, HNRNPU-AS1
(T52P +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex 4 deficiency, nuclear type 11
GPathogenic
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