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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
ARNT2, LOC101929586
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ARNT2, LOC101929586
(R383C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ARNT2, LOC101929586
(R383H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
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