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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDSS2
(G357V)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 3
GUncertain significance
PDSS2
(W247*)
Single nucleotide variant
(nonsense)
Coenzyme Q10 deficiency, primary, 3
+1 more
GUncertain significance
PDSS2
Single nucleotide variant
(splice acceptor variant)
Coenzyme Q10 deficiency, primary, 3
+1 more
GConflicting classifications of pathogenicity
PDSS2
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, primary, 3
+1 more
GLikely benign
PDSS2
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, primary, 3
+1 more
GLikely benign
PDSS2
(R366C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PDSS2
(S17L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PDSS2
(N167S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDSS2
(R163H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDSS2
(V128M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PDSS2
(M279I)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 3
GUncertain significance
PDSS2
(A384D)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 3
GUncertain significance
PDSS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PDSS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PDSS2
(R397fs)
Deletion
(frameshift variant)
Coenzyme Q10 deficiency, primary, 3
GUncertain significance
PDSS2
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, primary, 3
+1 more
GLikely benign
PDSS2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PDSS2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
PDSS2
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, primary, 3
+2 more
GBenign/Likely benign
PDSS2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
PDSS2
(R349Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PDSS2
(K234E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PDSS2
(V223I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PDSS2
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, primary, 3
+2 more
GBenign/Likely benign
PDSS2
(S382L)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 3
+2 more
GConflicting classifications of pathogenicity
PDSS2
(Q322*)
Single nucleotide variant
(nonsense)
Coenzyme Q10 deficiency, primary, 3
GPathogenic
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