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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
EFHB, KAT2B
+115 more
Copy number gain
See cases
GPathogenic
LINC00691, LOC121725135
+34 more
Copy number gain
See cases
GUncertain significance
THRB, THRB-AS2
(I122V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
THRB, THRB-AS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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