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Links from Gene

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLCAP, NNAT
(A6V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
BLCAP, NNAT
(F19V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
BLCAP, CTNNBL1
+5 more
Copy number loss
not provided
GUncertain significance
BLCAP, CTNNBL1
+8 more
Duplication
Congenital disorder of glycosylation
+1 more
GUncertain significance
BLCAP, NNAT
(I18M)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
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