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Links from MedGen

Items: 1 to 100 of 141

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQCB1
(I381fs +1 more)
Duplication
(frameshift variant +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(Q51*)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
Deletion
(nonsense +2 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(Q51fs)
Deletion
(frameshift variant +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(Q161*)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(E401fs +1 more)
Deletion
(frameshift variant +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(I210fs)
Duplication
(frameshift variant +2 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(Q218* +1 more)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(Q193*)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(Q387fs +1 more)
Duplication
(frameshift variant +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
Single nucleotide variant
(splice acceptor variant)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(Q209* +1 more)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
Single nucleotide variant
(splice donor variant)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
Single nucleotide variant
(splice donor variant)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(K216fs +1 more)
Indel
(frameshift variant +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(L219fs +1 more)
Deletion
(frameshift variant +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(W311* +1 more)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 5
GPathogenic
IQCB1
Deletion
Senior-Loken syndrome 5
GUncertain significance
IQCB1
(Q513* +1 more)
Duplication
(nonsense +1 more)
Nephronophthisis
+1 more
GPathogenic
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
+1 more
GLikely benign
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 5
+1 more
GLikely benign
IQCB1
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 5
+1 more
GLikely benign
IQCB1
Single nucleotide variant
(splice acceptor variant +1 more)
Nephronophthisis
+1 more
GLikely pathogenic
IQCB1
(A427T +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(M335V +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(K201Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(T231I)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(R312* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+1 more
GPathogenic
IQCB1
(R369Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+2 more
GUncertain significance
IQCB1
(L149I)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(I443T +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(R455Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+2 more
GUncertain significance
IQCB1
(L153S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
IQCB1
(Q302E)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(C91Y)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(Q291R +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(R312Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(S393R +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
Single nucleotide variant
(splice acceptor variant +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
Duplication
(intron variant)
Nephronophthisis
+1 more
GBenign/Likely benign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
+1 more
GBenign/Likely benign
IQCB1
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 5
+1 more
GLikely benign
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GLikely benign
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GLikely benign
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GLikely benign
IQCB1
(L138*)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(Y284F +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
IQCB1
(G399R +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(L307P +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(L164P)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(R72G)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(I194F)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+2 more
GUncertain significance
IQCB1
(D448H +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(H242N +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(A309S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
IQCB1
(H295R)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(C253fs)
Deletion
(frameshift variant +2 more)
Senior-Loken syndrome 5
GPathogenic
IQCB1
(V178I)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(E252Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(G307fs)
Insertion
(frameshift variant +1 more)
Senior-Loken syndrome 5
+1 more
GPathogenic
IQCB1
(R384Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(P318A)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(M341V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(I53V)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(E288*)
Single nucleotide variant
(nonsense +2 more)
Nephronophthisis
+1 more
GPathogenic/Likely pathogenic
IQCB1
(R384W +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(Y465H +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GConflicting classifications of pathogenicity
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 5
+1 more
GBenign/Likely benign
IQCB1
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
(D57Y)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
IQCB1
Single nucleotide variant
(3 prime UTR variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
Single nucleotide variant
(3 prime UTR variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
Single nucleotide variant
(3 prime UTR variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
(Q264P)
Single nucleotide variant
(missense variant +2 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
Single nucleotide variant
(3 prime UTR variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
Single nucleotide variant
(3 prime UTR variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
Single nucleotide variant
(3 prime UTR variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
(R329fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
IQCB1
(L294V)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(P40S)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
IQCB1
(R356Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
IQCB1
Single nucleotide variant
(splice acceptor variant)
Senior-Loken syndrome 5
GPathogenic
IQCB1
Microsatellite
(intron variant)
not provided
+1 more
GBenign
IQCB1
Microsatellite
(intron variant)
not provided
+1 more
GBenign
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GLikely benign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
+1 more
GLikely benign
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 5
+1 more
GBenign/Likely benign
IQCB1
(L261R)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
IQCB1
(R120*)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
(R502* +1 more)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 5
+2 more
GPathogenic
IQCB1
(R332* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+1 more
GPathogenic
IQCB1
(A484T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
IQCB1
(Q520* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
IQCB1
(I301fs)
Duplication
(frameshift variant +1 more)
Nephronophthisis
+2 more
GPathogenic
IQCB1
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 5
GBenign
IQCB1
Single nucleotide variant
(non-coding transcript variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
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