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Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067034, LOC130067035
+535 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
AIFM3, ARVCF
+202 more
Copy number gain
See cases
GPathogenic
LOC130066994, LOC130066995
+287 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+798 more
Copy number gain
See cases
GPathogenic
AIFM3, ARVCF
+378 more
Copy number loss
See cases
GPathogenic
AIFM3, CCDC116
+123 more
Copy number gain
See cases
GPathogenic
AIFM3, CCDC116
+101 more
Copy number gain
See cases
GUncertain significance
AIFM3, CCDC116
+101 more
Copy number gain
See cases
GPathogenic
AIFM3, CRKL
+52 more
Copy number loss
See cases
GPathogenic
AIFM3, BCR
+265 more
Copy number loss
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
CCDC116, FAM230B
+94 more
Copy number gain
See cases
GUncertain significance
CCDC116, FAM230B
+102 more
Copy number loss
See cases
GPathogenic
CCDC116, FAM230B
+102 more
Copy number gain
See cases
GUncertain significance
CCDC116, FAM230B
+99 more
Copy number loss
See cases
GPathogenic
CCDC116, FAM230B
+99 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+229 more
Copy number gain
See cases
GUncertain significance
BCR, CCDC116
+177 more
Copy number gain
See cases
GPathogenic
BCR, CCDC116
+180 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+223 more
Copy number loss
See cases
GPathogenic
CCDC116, HIC2
+90 more
Copy number loss
See cases
GPathogenic
CCDC116, GGTLC2
+94 more
Copy number loss
See cases
GPathogenic
CCDC116, IGL
+89 more
Copy number loss
See cases
GPathogenic
CCDC116, IGL
+89 more
Copy number gain
See cases
GPathogenic
CCDC116, IGL
+92 more
Copy number loss
See cases
GPathogenic
LOC129929044, LOC129929045
+176 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+223 more
Copy number loss
See cases
GPathogenic
BCR, CCDC116
+179 more
Copy number loss
See cases
GPathogenic
BCR, CCDC116
+179 more
Copy number gain
See cases
GPathogenic
CCDC116, IGL
+89 more
Copy number loss
See cases
GPathogenic/Likely pathogenic
BCR, C22orf15
+222 more
Copy number loss
See cases
GPathogenic
RIMBP3C, UBE2L3
(R75H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
BCR, C22orf15
+227 more
Copy number loss
See cases
GPathogenic
UBE2L3
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC116, GGTLC2
+86 more
Copy number gain
See cases
GPathogenic
CCDC116, LOC110121474
+29 more
Copy number gain
See cases
GUncertain significance
CCDC116, IGL
+80 more
Copy number loss
See cases
GPathogenic
UBE2L3
(P102R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBE2L3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CCDC116, GGTLC2
+84 more
Copy number gain
See cases
GPathogenic
BCR, CCDC116
+168 more
Copy number loss
See cases
GPathogenic
CCDC116, IGL
+83 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+43 more
Copy number gain
not provided
GUncertain significance
AIFM3, ARVCF
+50 more
Copy number gain
not provided
GPathogenic
IGLC1, IGLL1
+23 more
Copy number loss
not provided
GPathogenic
CCDC116, GGT2
+19 more
Copy number loss
not provided
GPathogenic
BCR, CCDC116
+23 more
Copy number gain
not provided
GPathogenic
BCR, CCDC116
+23 more
Deletion
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
CCDC116, HIC2
+16 more
Copy number gain
not provided
GPathogenic
AIFM3, ARVCF
+50 more
Copy number loss
not provided
GPathogenic
AIFM3, CCDC116
+23 more
Copy number gain
not provided
GPathogenic
CCDC116, GGT2
+18 more
Copy number loss
not provided
GPathogenic
USP18, USP41
+52 more
Copy number loss
Syndromic anorectal malformation
GPathogenic
CCDC116, GGT2
+18 more
Copy number loss
See cases
GPathogenic
ADA2, AIFM3
+68 more
Copy number gain
Chromosome 22q11.2 microduplication syndrome
GPathogenic
ADORA2A, BCR
+50 more
Copy number gain
Chromosome 22q11.2 microduplication syndrome
GPathogenic
AIFM3, CCDC116
+15 more
Copy number loss
not provided
GUncertain significance
BCR, C22orf15
+45 more
Copy number gain
not provided
GPathogenic
AIFM3, CRKL
+18 more
Copy number loss
not provided
GPathogenic
CCDC116, MAPK1
+9 more
Copy number gain
not provided
GUncertain significance
MIR130B, CCDC116
+15 more
Copy number gain
Chromosome 22q11.2 microduplication syndrome
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
RTN4R, SCARF2
+124 more
Copy number gain
Cat eye syndrome
+1 more
GPathogenic
BCR, CCDC116
+23 more
Copy number loss
not provided
GPathogenic
AIFM3, ARVCF
+60 more
Copy number gain
not provided
GPathogenic
CCDC116, SDF2L1
+2 more
Copy number loss
not provided
GUncertain significance
CCDC116, GGT2
+18 more
Deletion
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
CCDC116, GGTLC2
+16 more
Deletion
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
MAPK1, PPM1F
+13 more
Copy number loss
not provided
GPathogenic
BCR, CCDC116
+25 more
Copy number gain
not provided
GPathogenic
HIC2, YDJC
+23 more
Copy number loss
not provided
GPathogenic
ADORA2A, AIFM3
+66 more
Copy number gain
not provided
GPathogenic
HIC2, HIRA
+133 more
Copy number gain
not provided
GPathogenic
ADA2, AIFM3
+76 more
Copy number gain
not provided
GPathogenic
AIFM3, ARVCF
+76 more
Deletion
DiGeorge syndrome
GPathogenic
CCDC116, MAPK1
+10 more
Copy number gain
not provided
GUncertain significance
BCR, CCDC116
+23 more
Copy number loss
not provided
GPathogenic
BCR, CCDC116
+20 more
Copy number loss
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
BCR, CCDC116
+25 more
Copy number loss
not provided
GPathogenic
AIFM3, ARVCF
+51 more
Copy number loss
See cases
GPathogenic
CLDN5, AIFM3
+52 more
Copy number gain
Chromosome 22q11.2 microduplication syndrome
GPathogenic
BCR, CCDC116
+23 more
Copy number loss
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
CCDC116, GGTLC2
+19 more
Copy number gain
not provided
GLikely pathogenic
AIFM3, ARVCF
+50 more
Copy number gain
Chromosome 22q11.2 microduplication syndrome
GPathogenic
CCDC116, MAPK1
+15 more
Deletion
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
ADORA2A, BCR
+47 more
Copy number loss
not provided
GPathogenic
AIFM3, ARVCF
+52 more
Copy number loss
not provided
GPathogenic
BCR, C22orf15
+45 more
Copy number loss
not provided
GPathogenic
AIFM3, BCR
+39 more
Copy number loss
not provided
GPathogenic
BCR, CCDC116
+25 more
Copy number loss
not provided
GPathogenic
CCDC116, GGT2
+18 more
Copy number loss
not provided
GPathogenic
CCDC116, HIC2
+16 more
Copy number loss
not provided
GPathogenic
CCDC116, HIC2
+16 more
Copy number gain
not provided
GUncertain significance
AIFM3, CCDC116
+23 more
Copy number loss
See cases
GUncertain significance
BCR, CCDC116
+23 more
Copy number loss
See cases
GPathogenic
BCR, CCDC116
+23 more
Copy number gain
See cases
GUncertain significance
CCDC116, HIC2
+16 more
Copy number loss
See cases
GPathogenic
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