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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
AASDH, ADGRL3
+244 more
Copy number gain
See cases
GPathogenic
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
AASDH, ADGRL3
+177 more
Copy number gain
See cases
GPathogenic
CHIC2, DANCR
+65 more
Copy number loss
See cases
GPathogenic
ENAM, LOC123477761
+360 more
Copy number loss
Piebaldism
GPathogenic
LOC129992618, LOC129992619
+143 more
Copy number gain
See cases
GPathogenic
AASDH, ARL9
+136 more
Copy number loss
See cases
GPathogenic
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
DANCR, DCUN1D4
+10 more
Copy number gain
not provided
GUncertain significance
AASDH, ARL9
+36 more
Copy number loss
not provided
GPathogenic
DANCR, ERVMER34-1
+5 more
Copy number gain
not provided
GUncertain significance
DANCR, ERVMER34-1
+5 more
Copy number loss
not provided
GUncertain significance
AASDH, ARL9
+36 more
Copy number gain
not provided
GUncertain significance
DANCR, ERVMER34-1
+5 more
Copy number gain
not specified
GUncertain significance
DANCR, ERVMER34-1
+5 more
Copy number gain
not specified
GUncertain significance
AASDH, ARL9
+36 more
Copy number loss
not provided
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
SNORA26, DANCR
+3 more
Copy number gain
not provided
GUncertain significance
DANCR, ERVMER34-1
+2 more
Copy number loss
not provided
GLikely benign
DANCR, DCUN1D4
+9 more
Copy number gain
not provided
GUncertain significance
DANCR, ERVMER34-1
+3 more
Copy number gain
not provided
GUncertain significance
HTRA3, HTT
+267 more
Copy number gain
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
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