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Links from Gene

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997480, LOC129997522
+288 more
Deletion
Chromosome 6q24-q25 deletion syndrome
GPathogenic
AKAP12, ARID1B
+208 more
Copy number loss
Coffin-Siris syndrome 1
GPathogenic
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC101929460, LOC102724087
+572 more
Copy number gain
See cases
GPathogenic
LOC129997640, LOC129997641
+564 more
Copy number loss
See cases
GPathogenic
DYNLT1, GTF2H5
+30 more
Copy number gain
See cases
GLikely benign
AKAP12, ARID1B
+288 more
Copy number loss
See cases
GPathogenic
SOD2, SOD2-OT1
+270 more
Copy number loss
See cases
GPathogenic
IGF2R, KIF25
+540 more
Copy number loss
See cases
GPathogenic
ARID1B, CLDN20
+188 more
Copy number loss
See cases
GLikely pathogenic
ACAT2, AFDN
+549 more
Copy number loss
See cases
GPathogenic
DYNLT1, EZR
+100 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
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