U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126859690, PKHD1
(V1741M)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+3 more
GConflicting classifications of pathogenicity
PKHD1
(L542S)
Single nucleotide variant
(missense variant)
Kidney disorder
GUncertain significance
PKHD1
(R124*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease 4
+4 more
GPathogenic
PKHD1
(T36M)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+7 more
GPathogenic/Likely pathogenic
Format
Sort by
Choose Destination