U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
ACOT13, ALDH5A1
+50 more
Copy number loss
See cases
GPathogenic
ACOT13, ALDH5A1
+64 more
Copy number loss
See cases
GUncertain significance
ACOT13, ARMH2
+6 more
Copy number gain
See cases
GUncertain significance
C6orf62
(S6C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT13, ALDH5A1
+38 more
Copy number loss
not provided
GLikely pathogenic
TDP2, ACOT13
+5 more
Copy number gain
not provided
GUncertain significance
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination