U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
LOC129937944, LOC129937945
+630 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+61 more
Copy number loss
See cases
GLikely pathogenic
LOC129938007, LOC129938008
+1317 more
Copy number gain
See cases
GPathogenic
MBNL1, MBNL1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GBenign
Format
Items per page
Sort by
Choose Destination