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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
LRR1, MAP4K5
+394 more
Copy number gain
See cases
GLikely pathogenic
L2HGDH, LINC01588
+30 more
Deletion
L-2-hydroxyglutaric aciduria
GPathogenic
ABHD12B, ATL1
+70 more
Copy number gain
See cases
GUncertain significance
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+447 more
Copy number gain
See cases
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
NEMF, SAV1
+16 more
Copy number gain
not provided
GUncertain significance
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
ACTN1, ACTR10
+635 more
Copy number gain
See cases
GPathogenic
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