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Items: 31

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
ADAMTS3, AFM
+121 more
Copy number loss
See cases
GLikely pathogenic
BTC, CABS1
+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
CXCL3
(R63K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CXCL3
(Q58R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL3
(R42H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL3
(A32V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL3
(A32S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL3
(A4G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCL3
(A2G)
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
ADAMTS3, AFM
+58 more
Copy number loss
not provided
GPathogenic
CXCL5, CXCL6
+51 more
Copy number loss
not specified
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
ABRAXAS1, ADAMTS3
+97 more
Copy number loss
See cases
GPathogenic
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
CDKL2, AREG
+25 more
Copy number loss
not provided
GUncertain significance
CXCL1, EPGN
+15 more
Copy number gain
not provided
GUncertain significance
ADAMTS3, AFM
+75 more
Copy number loss
See cases
GPathogenic
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
CXCL2, CXCL3
+3 more
Copy number gain
See cases
GLikely benign
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