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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQCB1
(N517Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+4 more
GConflicting classifications of pathogenicity
IQCB1
(H373fs +1 more)
Microsatellite
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
IQCB1
(A484T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
IQCB1
(R461* +1 more)
Single nucleotide variant
(nonsense +1 more)
IQCB1-related condition
+4 more
GPathogenic
IQCB1
(N406Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IQCB1
(I393N +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GBenign
IQCB1
(R364* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+2 more
GPathogenic
IQCB1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IQCB1
(Q276E)
Single nucleotide variant
(missense variant +2 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(E273*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
IQCB1
(Q272E)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+2 more
GUncertain significance
IQCB1
(R259C)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+3 more
GBenign
IQCB1
(S182Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IQCB1
Duplication
(intron variant)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
IQCB1
(L108F)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
IQCB1
Single nucleotide variant
(splice acceptor variant)
Nephronophthisis
+1 more
GPathogenic
IQCB1
(R72*)
Single nucleotide variant
(nonsense +1 more)
Leber congenital amaurosis
+3 more
GPathogenic
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