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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C4orf46, ETFDH
+56 more
Copy number gain
See cases
GPathogenic
C4orf46, ETFDH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
C4orf46, ETFDH
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
C4orf46, ETFDH
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
C4orf46, ETFDH
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
C4orf46, ETFDH
+3 more
Copy number gain
See cases
GUncertain significance
SCOC, SCRG1
+218 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+142 more
Copy number gain
See cases
GPathogenic
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