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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
ABCB5, AGMO
+560 more
Copy number gain
See cases
GPathogenic
AGMO, AGR2
+130 more
Copy number loss
See cases
GPathogenic
LOC129998072, LOC129998073
+331 more
Copy number loss
See cases
GPathogenic
AGMO, AGR2
+59 more
Copy number loss
See cases
GPathogenic
AGMO, AGR2
+23 more
Copy number loss
See cases
GPathogenic
AGMO, AGR2
+67 more
Copy number loss
See cases
GPathogenic
ABCB5, AGMO
+248 more
Copy number loss
See cases
GPathogenic
AGR2, AGR3
+84 more
Copy number loss
See cases
GPathogenic
ABCB5, AGR2
+287 more
Copy number gain
See cases
GPathogenic
AGR2
(R148S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGR2
(G143E)
Single nucleotide variant
(missense variant)
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
GPathogenic
AGR2
(L135V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGR2
(P133T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGR2
(P120T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGR2
(H117Y)
Single nucleotide variant
(missense variant)
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
GLikely pathogenic
AGR2
(Y111C)
Single nucleotide variant
(missense variant)
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
GUncertain significance
AGR2
Single nucleotide variant
(splice acceptor variant)
AGR2-related disorder
GUncertain significance
AGR2
Single nucleotide variant
(splice donor variant)
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
GPathogenic
AGR2
(V90M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGR2
Single nucleotide variant
(splice donor variant)
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
GLikely pathogenic
AGR2
(C81W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGR2
(P71T)
Single nucleotide variant
(missense variant)
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
GLikely pathogenic
AGR2
(L52V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGR2
(R37Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AGR2
(D32fs)
Deletion
(frameshift variant)
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
GUncertain significance
AGR2
(D32H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGR2
(R21I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGR2
(L12F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5, AGMO
+71 more
Copy number loss
not specified
GPathogenic
AGR2, AGR3
+7 more
Deletion
not provided
GUncertain significance
AGR2, AGR3
+7 more
Copy number gain
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
ACTB, ADAP1
+98 more
Copy number gain
See cases
GPathogenic
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ABCB5, ADCYAP1R1
+117 more
Copy number gain
not specified
GLikely pathogenic
ABCB5, AGMO
+29 more
Copy number loss
not specified
GPathogenic
AGMO, AGR2
+20 more
Copy number loss
not provided
GUncertain significance
AGR2, AGR3
+1 more
Copy number loss
not provided
GUncertain significance
AGMO, AGR2
+19 more
Copy number loss
Saethre-Chotzen syndrome
GPathogenic
SOSTDC1, AGR2
+10 more
Copy number loss
not provided
GUncertain significance
AHR, AGR2
+1 more
Copy number gain
not provided
GLikely benign
AGR2, LRRC72
+6 more
Copy number gain
not provided
GLikely benign
MEOX2, PRPS1L1
+19 more
Copy number loss
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ACTB, ADAP1
+98 more
Copy number gain
not provided
GPathogenic
AGR2, AGR3
+4 more
Copy number gain
not provided
GUncertain significance
AGR3, TSPAN13
+23 more
Copy number gain
not provided
GPathogenic
BZW2, ANKMY2
+5 more
Copy number gain
not provided
GUncertain significance
BZW2, TSPAN13
+1 more
Copy number loss
not provided
GUncertain significance
AGR2, AGR3
+1 more
Copy number gain
See cases
GUncertain significance
AGMO, AGR2
+13 more
Copy number loss
See cases
GLikely pathogenic
AGMO, AGR2
+25 more
Copy number gain
See cases
GUncertain significance
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+158 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+121 more
Copy number gain
See cases
GPathogenic
RP9, SCIN
+196 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ABCB5, ADCYAP1R1
+119 more
Copy number gain
See cases
GPathogenic
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