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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A4GALT, ACR
+521 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+211 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+185 more
Copy number loss
See cases
GPathogenic
BRD1
(A216T +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
BRD1
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
ADM2, A4GALT
+128 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
BRD1, TTC38
+18 more
Copy number loss
See cases
GLikely pathogenic
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