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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125467786, LOC125467787
+1203 more
Copy number loss
See cases
GPathogenic
MIR2114, MIR224
+718 more
Copy number gain
See cases
GPathogenic
BCAP31, BGN
+200 more
Copy number gain
See cases
GPathogenic
ABCD1, ARHGAP4
+67 more
Copy number gain
See cases
GPathogenic
ABCD1, BCAP31
+16 more
Copy number loss
See cases
GPathogenic
ARHGAP4, AVPR2
+64 more
Copy number gain
See cases
GPathogenic
ARHGAP4, AVPR2
+66 more
Copy number gain
See cases
GPathogenic
ARHGAP4, AVPR2
+64 more
Copy number gain
See cases
GPathogenic
IDH3G, SSR4
Single nucleotide variant
(intron variant)
not provided
GBenign
RENBP, BCAP31
+14 more
Copy number gain
See cases
GUncertain significance
ABCB7, ABCD1
+819 more
Copy number gain
See cases
GPathogenic
RENBP, L1CAM
+18 more
Copy number gain
See cases
GPathogenic
TMEM255A, TMEM31
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+503 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+783 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
See cases
GPathogenic
ABCD1, AFF2
+130 more
Copy number gain
See cases
GPathogenic
PNMA3, PLP1
+818 more
Copy number gain
See cases
GPathogenic
CETN2, CLIC2
+222 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+503 more
Copy number gain
See cases
GPathogenic
TMEM187, RENBP
+16 more
Copy number gain
See cases
GPathogenic
MAGEB4, MAGEB5
+818 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
See cases
GPathogenic
RPS6KA3, RPS6KA6
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
See cases
GPathogenic
RRAGB, RS1
+819 more
Copy number gain
See cases
GPathogenic
ARL13A, ARMCX1
+818 more
Copy number gain
See cases
GPathogenic
HDAC6, HTATSF1
+818 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number gain
See cases
GPathogenic
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