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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129936377, LOC129936378
+1111 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+730 more
Copy number gain
See cases
GPathogenic
LOC129936460, LOC129936461
+176 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+51 more
Deletion
Brugada syndrome
GPathogenic
APRG1, CTDSPL
+6 more
Copy number gain
not provided
GUncertain significance
APRG1, CTDSPL
+6 more
Copy number gain
not specified
GUncertain significance
EFHB, EIF1B
+93 more
Deletion
not provided
GPathogenic
ACAA1, ACVR2B
+19 more
Duplication
Heterotaxy, visceral, 4, autosomal
GUncertain significance
DLEC1, EXOG
+15 more
Duplication
Heterotaxy, visceral, 4, autosomal
GUncertain significance
MIR26A1, DLEC1
+5 more
Copy number gain
not provided
GUncertain significance
APRG1, CTDSPL
+6 more
Copy number gain
not provided
GUncertain significance
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
VILL, XYLB
+13 more
Copy number gain
See cases
GUncertain significance
ACAA1, ACVR2B
+15 more
Deletion
Brugada syndrome
GUncertain significance
FBXL2, FBXO40
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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