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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992813, PKD2
(G51fs)
Deletion
(frameshift variant +1 more)
Autosomal dominant polycystic kidney disease
+1 more
GPathogenic/Likely pathogenic
LOC129992813, PKD2
(Q61*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PKD2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PKD2
(R306*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 2
+2 more
GPathogenic
PKD2
(R322W)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
+3 more
GPathogenic/Likely pathogenic
PKD2
(R325*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
PKD2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
PKD2
(N432S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PKD2
(R464*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
PKD2
(N720fs)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
PKD2
Deletion
(inframe_deletion +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PKD2
(Q768E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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