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Items: 1 to 100 of 526

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMOTL2, DNAJC13
+1343 more
Copy number gain
See cases
GPathogenic
ALCAM, BTLA
+637 more
Copy number loss
See cases
GPathogenic
CD200R1L, ILDR1
+681 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
BPESC1, BTLA
+2645 more
Copy number gain
See cases
GPathogenic
LOC129937351, LOC129937424
+570 more
Copy number loss
See cases
GPathogenic
ADCY5, ADPRH
+286 more
Copy number loss
See cases
GPathogenic
ADPRH, ARGFX
+199 more
Copy number loss
See cases
GPathogenic
GOLGB1, LOC129389118
+326 more
Copy number loss
See cases
GPathogenic
LOC126806792, LOC126806793
+291 more
Copy number loss
See cases
GPathogenic
ADCY5, CASR
+182 more
Copy number loss
See cases
GPathogenic
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
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
+1 more
GBenign
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
(L590* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(E455A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(S584N +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(D448H +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(K580T +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
(K580Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(I443T +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(D441N +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(E571* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
GUncertain significance
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(G436A +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(L435P +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(P563R +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(P430A +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(Q428E +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(I427V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(H559D +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(T423I +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(H420Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
IQCB1
(A419V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(A414fs +1 more)
Duplication
(frameshift variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(V412A +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(E401fs +1 more)
Deletion
(frameshift variant +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(G532E +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
(G399R +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(A397E +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
Deletion
(non-coding transcript variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(S393R +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
(P525S +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(P392T +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
IQCB1
Deletion
(intron variant)
not specified
+2 more
GBenign
IQCB1
Single nucleotide variant
(intron variant)
not provided
GBenign
IQCB1
Single nucleotide variant
(intron variant)
not provided
GBenign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
IQCB1
Deletion
(intron variant)
Nephronophthisis
GUncertain significance
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GUncertain significance
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(Q387fs +1 more)
Duplication
(frameshift variant +1 more)
Senior-Loken syndrome 5
GLikely pathogenic
IQCB1
(Q520* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
IQCB1
(V385I +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(N384S +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(N384D +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(N517Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
IQCB1
(S515I +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
GUncertain significance
IQCB1
(Q513* +1 more)
Duplication
(nonsense +1 more)
Senior-Loken syndrome 5
+1 more
GPathogenic
IQCB1
(A509fs +1 more)
Microsatellite
(frameshift variant +1 more)
Nephronophthisis
+1 more
GPathogenic/Likely pathogenic
IQCB1
(H373fs +1 more)
Microsatellite
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(H373N +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(Q372fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
IQCB1
(Q371* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
GPathogenic
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 5
+1 more
GBenign/Likely benign
IQCB1
(R369Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 5
+1 more
GUncertain significance
IQCB1
(R502* +1 more)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+2 more
GPathogenic
IQCB1
(E500G +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(E500K +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(L499fs +1 more)
Deletion
(frameshift variant +1 more)
Nephronophthisis
GPathogenic
IQCB1
(R364S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IQCB1
(R364S +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(G496D +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(M362T +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GUncertain significance
IQCB1
(Q491* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
GPathogenic
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(R356Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
(R489* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+2 more
GPathogenic
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