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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP1
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 1
+5 more
GConflicting classifications of pathogenicity
NPHP1
(G343R +4 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+4 more
GPathogenic
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+4 more
GBenign
NPHP1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
NPHP1
(P39T)
Single nucleotide variant
(missense variant)
Nephronophthisis
+5 more
GBenign
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