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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPM4
(Y103C)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+4 more
GConflicting classifications of pathogenicity
TRPM4
(D226E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TRPM4
(R357W +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(L361R +2 more)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
HRC, TRPM4
(A432T +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+5 more
GConflicting classifications of pathogenicity
TRPM4
(V441M +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
GUncertain significance
TRPM4
(D561A +4 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+5 more
GBenign/Likely benign
HRC, TRPM4
(G582S +4 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+5 more
GConflicting classifications of pathogenicity
TRPM4
(A609G +4 more)
Single nucleotide variant
(missense variant)
Sudden cardiac death
+2 more
GUncertain significance
TRPM4
(L1113V +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(R1026H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
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