U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
ACOT11, AK4
+422 more
Copy number gain
See cases
GLikely pathogenic
LOC111501769, LOC112590812
+339 more
Copy number loss
See cases
GPathogenic
MIGA1, MIR101-1
+558 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+276 more
Copy number loss
See cases
GPathogenic
ACADM, AK4
+331 more
Copy number loss
See cases
GPathogenic
DEPDC1, DEPDC1-AS1
+270 more
Copy number loss
See cases
GPathogenic
LOC122094841, LOC122094842
+253 more
Copy number loss
See cases
GPathogenic
AK4, ANKRD13C
+210 more
Copy number gain
See cases
GPathogenic
AK4, C1orf141
+90 more
Copy number loss
See cases
GLikely pathogenic
ACADM, ANKRD13C
+165 more
Copy number loss
See cases
GPathogenic
ACADM, AK5
+188 more
Duplication
not specified
GUncertain significance
C1orf141
(M340fs)
Deletion
(frameshift variant +2 more)
not provided
GBenign/Likely benign
AK4, ALG6
+32 more
Duplication
PGM1-congenital disorder of glycosylation
GUncertain significance
AK4, ALG6
+32 more
Deletion
not provided
GPathogenic
AK4, C1orf141
+14 more
Deletion
not provided
GPathogenic
SGIP1, SLC35D1
+23 more
Copy number gain
not specified
GUncertain significance
C1orf141, IL23R
Copy number loss
not provided
GLikely benign
ACADM, ANKRD13C
+39 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+85 more
Deletion
not provided
Gnot provided
ROR1, RPE65
+53 more
Deletion
Intellectual disability, severe
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
AK4, ALG6
+46 more
Copy number gain
not provided
GPathogenic
ACADM, ADGRL2
+94 more
Copy number loss
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL4
+78 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination