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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
ENAM, LOC123477761
+360 more
Copy number loss
Piebaldism
GPathogenic
LOC129992745, LOC129992746
+330 more
Deletion
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ADAMTS3, AFM
+166 more
Copy number gain
See cases
GPathogenic
ABRAXAS1, ADAMTS3
+331 more
Copy number gain
See cases
GPathogenic
LOC129992714, LOC129992715
+236 more
Copy number loss
See cases
GPathogenic
ART3, CXCL10
+16 more
Copy number loss
See cases
GUncertain significance
ANXA3, ART3
+107 more
Copy number gain
See cases
GPathogenic
CXCL9, SDAD1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CXCL9, SDAD1-AS1
(R114Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL9, SDAD1-AS1
(K104T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL9, SDAD1-AS1
(K97T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL9, SDAD1-AS1
(S79L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL9, SDAD1-AS1
(G70A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL9
(E59K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL9
(F52V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL9
(T40S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CXCL9
(S35G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL9
(V25A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL9
(G11D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AREG, ART3
+37 more
Copy number loss
not specified
GUncertain significance
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
ART3, CXCL10
+4 more
Copy number loss
not provided
GUncertain significance
ABCG2, ABRAXAS1
+91 more
Copy number gain
not specified
GPathogenic
CXCL5, CXCL6
+51 more
Copy number loss
not specified
GPathogenic
ART3, CCDC158
+16 more
Deletion
Progressive myoclonic epilepsy
GPathogenic
BTC, CDKL2
+10 more
Copy number gain
not provided
GUncertain significance
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
ABRAXAS1, ADAMTS3
+97 more
Copy number loss
See cases
GPathogenic
ART3, USO1
+6 more
Copy number gain
not provided
GUncertain significance
CXCL3, LIN54
+82 more
Copy number loss
not provided
GPathogenic
ADAMTS3, AFM
+92 more
Copy number loss
not provided
GPathogenic
ADAMTS3, AFM
+51 more
Copy number loss
not provided
GPathogenic
CCNG2, CCNI
+109 more
Copy number gain
not provided
GPathogenic
ART3, CXCL9
+5 more
Copy number gain
not provided
GLikely benign
BTC, PARM1
+17 more
Copy number loss
not provided
GUncertain significance
CDKL2, AREG
+25 more
Copy number loss
not provided
GUncertain significance
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
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