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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRG3
Copy number gain
Penile hypospadias
+4 more
GUncertain significance
TBXAS1
Copy number gain
Penile hypospadias
+4 more
GUncertain significance
SLC9A4
Copy number loss
Imperforate anus
GUncertain significance
BCR, GGTLC2
+5 more
Copy number loss
Abnormality of the vertebral column
+2 more
GPathogenic
LRRK1, ASB7
+3 more
Copy number loss
Esophageal atresia
+3 more
GUncertain significance
APBA2, ATP10A
+32 more
Complex
Seizure
+3 more
GPathogenic
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