U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INVS
(R123W +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INVS
(R123Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+3 more
GUncertain significance
INVS
(I175T +1 more)
Single nucleotide variant
(missense variant +2 more)
Infantile nephronophthisis
+2 more
GUncertain significance
INVS
(Q159fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
INVS
(D177G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
(E260D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
(D657E +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile nephronophthisis
+2 more
GUncertain significance
INVS
(D771N +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
INVS
(V896I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
INVS
(Y1051fs +2 more)
Indel
(frameshift variant +1 more)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination