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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388541, LOC129388542
+570 more
Copy number gain
See cases
GPathogenic
AK4, ALG6
+339 more
Copy number loss
See cases
GPathogenic
LOC132088736, LOC132088737
+557 more
Copy number loss
See cases
GPathogenic
LOC126805749, LOC126805750
+331 more
Copy number loss
See cases
GPathogenic
LOC129930732, LOC129930733
+269 more
Copy number loss
See cases
GPathogenic
TYW3, UBE2U
+209 more
Copy number gain
See cases
GPathogenic
ACADM, ANKRD13C
+165 more
Copy number loss
See cases
GPathogenic
ACADM, AK5
+188 more
Duplication
not specified
GUncertain significance
ANKRD13C, ANKRD13C-DT
+80 more
Copy number loss
See cases
GPathogenic
LINC01788, LOC129388549
+8 more
Copy number gain
See cases
GLikely benign
ZRANB2-DT
Copy number loss
See cases
GLikely benign
ANKRD13C, CTH
+8 more
Copy number loss
not provided
GUncertain significance
MCOLN3, MIGA1
+97 more
Copy number loss
not specified
GPathogenic
PTGER3, NEGR1-IT1
+3 more
Copy number loss
not provided
GUncertain significance
NEGR1, ZRANB2-DT
Copy number loss
not provided
GUncertain significance
ACADM, ANKRD13C
+39 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+65 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+85 more
Deletion
not provided
Gnot provided
ITGB3BP, JAK1
+53 more
Deletion
Intellectual disability, severe
GPathogenic
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
ACADM, AK5
+21 more
Copy number gain
not provided
GPathogenic
AK4, ALG6
+46 more
Copy number gain
not provided
GPathogenic
NEGR1, NEGR1-IT1
+1 more
Copy number gain
See cases
GLikely benign
ACADM, ADGRL2
+94 more
Copy number loss
See cases
GPathogenic
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL4
+78 more
Copy number loss
See cases
GPathogenic
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