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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
HRC
(S96A)
Single nucleotide variant
(missense variant)
not provided
GBenign
HRC, TRPM4
(A432T +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+5 more
GConflicting classifications of pathogenicity
HRC, TRPM4
(G582S +4 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+5 more
GConflicting classifications of pathogenicity
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