U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
AMZ2, ARSG
+62 more
Copy number loss
See cases
GPathogenic
ABCA10, ABCA5
+85 more
Copy number loss
See cases
GPathogenic
C17orf58, KPNA2
+4 more
Copy number loss
See cases
GLikely benign
C17orf58, KPNA2
+4 more
Copy number gain
See cases
GBenign
C17orf58, KPNA2
+4 more
Copy number gain
See cases
GBenign/Likely benign
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
ABCA10, ABCA5
+18 more
Copy number gain
See cases
GUncertain significance
Format
Items per page
Sort by
Choose Destination