U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDSS2
(N390S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDSS2
(R349Q)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 3
+2 more
GConflicting classifications of pathogenicity
PDSS2
(N314T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDSS2
(H291R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDSS2
(V223I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PDSS2
(S126R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDSS2
(S126G)
Single nucleotide variant
(missense variant)
PDSS2-related disorder
+1 more
GUncertain significance
PDSS2
(L111S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDSS2
(V52I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDSS2
(S17L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PDSS2
(R4P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PDSS2
(F3L)
Single nucleotide variant
(missense variant)
Kidney disorder
+2 more
GBenign
Format
Items per page
Sort by
Choose Destination