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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKAP9
(M463I)
Single nucleotide variant
(missense variant)
Colorectal cancer
+4 more
GBenign
AKAP9
(I551V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GLikely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Congenital long QT syndrome
+4 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Congenital long QT syndrome
+4 more
GBenign/Likely benign
AKAP9
(R1276Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
AKAP9
Duplication
(inframe_insertion)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
AKAP9
(E2013K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(intron variant)
Congenital long QT syndrome
+3 more
GBenign/Likely benign
AKAP9
(K2762N +2 more)
Single nucleotide variant
(missense variant)
AKAP9-related condition
+5 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(synonymous variant)
Congenital long QT syndrome
+4 more
GBenign/Likely benign
AKAP9
(P2979S +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+5 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
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