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Links from Gene

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BZW2
(Q250K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BZW2
(T163I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BZW2
(D287V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BZW2
(Q74R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BZW2
(Q69H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BZW2
(V222I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BZW2
(E145D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BZW2
(K127R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB5, AGMO
+71 more
Copy number loss
not specified
GPathogenic
BZW2
(L137P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BZW2
(N95S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BZW2
(M302T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BZW2
(A166T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AGR2, AGR3
+7 more
Deletion
not provided
GUncertain significance
BZW2
(D104G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BZW2
(N223I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BZW2
(R13Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AGR2, AGR3
+7 more
Copy number gain
not provided
GUncertain significance
ANKMY2, BZW2
Copy number loss
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
AGMO, AGR2
+19 more
Copy number loss
Saethre-Chotzen syndrome
GPathogenic
SOSTDC1, AGR2
+10 more
Copy number loss
not provided
GUncertain significance
BZW2
Single nucleotide variant
(synonymous variant +1 more)
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
LRRC72, LOC129998006
+6 more
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2U
+1 more
GPathogenic
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
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
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
LOC129998072, LOC129998073
+331 more
Copy number loss
See cases
GPathogenic
ABCB5, AGMO
+248 more
Copy number loss
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
AGR2, AGR3
+84 more
Copy number loss
See cases
GPathogenic
AGMO, AGR2
+59 more
Copy number loss
See cases
GPathogenic
ABCB5, AGMO
+560 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
AGMO, AGR2
+23 more
Copy number loss
See cases
GPathogenic
ABCB5, AGR2
+287 more
Copy number gain
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
AGMO, AGR2
+67 more
Copy number loss
See cases
GPathogenic
AGMO, AGR2
+130 more
Copy number loss
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
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