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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INVS, LOC130002251
Single nucleotide variant
(5 prime UTR variant +1 more)
Nephronophthisis
+4 more
GBenign
INVS
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Infantile nephronophthisis
+3 more
GConflicting classifications of pathogenicity
INVS
(A650P +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+4 more
GBenign/Likely benign
INVS
(P336A +2 more)
Single nucleotide variant
(missense variant +1 more)
Kidney disorder
GUncertain significance
INVS
(G801E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
INVS
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
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