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Items: 1 to 100 of 112

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130002251, INVS
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile nephronophthisis
+3 more
GBenign
INVS
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
INVS
(V23I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GBenign
INVS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
INVS-related condition
+2 more
GConflicting classifications of pathogenicity
INVS
(L40V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
INVS
(E44A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
INVS
(A66V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
INVS
(A89V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
INVS
(R95H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
INVS
(R123W +1 more)
Single nucleotide variant
(missense variant +2 more)
INVS-related condition
+2 more
GConflicting classifications of pathogenicity
INVS
(P162A +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
INVS
(N174H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
INVS
(R222fs +1 more)
Duplication
(frameshift variant +2 more)
Nephronophthisis
+1 more
GPathogenic
INVS
(V236M +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+3 more
GUncertain significance
INVS
(S242L +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+3 more
GBenign/Likely benign
INVS
(N247S +1 more)
Single nucleotide variant
(missense variant +2 more)
INVS-related condition
+4 more
GBenign/Likely benign
INVS
(H260P +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
INVS
(I270T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
INVS
(H272P +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
INVS
(R277K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
INVS
(V305I +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+2 more
GBenign/Likely benign
INVS
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INVS
(R339S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
INVS
(N351H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
INVS
Single nucleotide variant
(synonymous variant +1 more)
INVS-related condition
+2 more
GConflicting classifications of pathogenicity
INVS
(S371G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
INVS
(T392I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GBenign
INVS
(G456R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
(Q159fs +2 more)
Deletion
(frameshift variant +1 more)
INVS-related condition
+3 more
GPathogenic
INVS
(K487Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
INVS
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
INVS
(C497Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
INVS
(N499S +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
(G547R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
INVS
(I554T +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile nephronophthisis
+2 more
GUncertain significance
INVS
(I557V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
INVS
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+3 more
GConflicting classifications of pathogenicity
INVS
(R576Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
INVS
(R597Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
(S614R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
(R638Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
INVS
(K642R +2 more)
Single nucleotide variant
(missense variant +1 more)
INVS-related condition
+2 more
GConflicting classifications of pathogenicity
INVS
(N648S +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
INVS
(V649M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
INVS
(A650P +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+4 more
GBenign/Likely benign
INVS
(D657E +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GBenign/Likely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
INVS
(S665C +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile nephronophthisis
+2 more
GUncertain significance
INVS
(R686G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
INVS
(Q699fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
INVS
(V703I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INVS
(N708S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GBenign/Likely benign
INVS
(D732N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
(R734W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
INVS
(V742M +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile nephronophthisis
+2 more
GUncertain significance
INVS
(S760A +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
INVS
(D771N +2 more)
Single nucleotide variant
(missense variant +1 more)
INVS-related condition
+2 more
GConflicting classifications of pathogenicity
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
INVS
(R779W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
INVS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INVS
(Q796E +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
INVS
(G801E +2 more)
Single nucleotide variant
(missense variant +1 more)
Kidney disorder
+4 more
GBenign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+3 more
GBenign
INVS
(R810H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
(R815W +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile nephronophthisis
+3 more
GUncertain significance
INVS
(R815Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
INVS
(A818V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
INVS
(R829C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
INVS
(Q837* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+1 more
GPathogenic
INVS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INVS
(A859V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INVS
(S874P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
INVS
(V889M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INVS
(V896I +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
(R914C +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
INVS
(R925H +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INVS
(A926T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
INVS
(R928* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
INVS
(S929G +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
(H935Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
INVS
(R940Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
(H941R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
INVS
(L945H +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
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