U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPM4
(Y352* +5 more)
Single nucleotide variant
(nonsense)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(synonymous variant)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GLikely benign
TRPM4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TRPM4
(D243fs +2 more)
Deletion
(frameshift variant +2 more)
Cardiovascular phenotype
+2 more
GUncertain significance
TRPM4
(A145V)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+3 more
GUncertain significance
TRPM4
(R139H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
TRPM4
(T112M +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(synonymous variant +1 more)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GUncertain significance
TRPM4
(R1010C +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(synonymous variant)
Progressive familial heart block type IB
+2 more
GConflicting classifications of pathogenicity
TRPM4
(E275K +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TRPM4
(A491fs +4 more)
Deletion
(frameshift variant)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GUncertain significance
TRPM4
(S458L +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(G1058R +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(P271L +4 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+3 more
GUncertain significance
TRPM4
(S760fs +5 more)
Deletion
(frameshift variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(K168del +3 more)
Microsatellite
(inframe_deletion +2 more)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GUncertain significance
TRPM4
Single nucleotide variant
(splice donor variant +1 more)
Progressive familial heart block type IB
+1 more
GUncertain significance
TRPM4
Single nucleotide variant
(synonymous variant +1 more)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GUncertain significance
TRPM4
(E115K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TRPM4
(G462S +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(R135H +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
TRPM4
(N230K +2 more)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+3 more
GUncertain significance
TRPM4
(R158* +3 more)
Single nucleotide variant
(nonsense +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
TRPM4
(N377S +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TRPM4
(E181* +3 more)
Single nucleotide variant
(nonsense +1 more)
Erythrokeratodermia variabilis et progressiva 6
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(intron variant)
Erythrokeratodermia variabilis et progressiva 6
+2 more
GBenign
TRPM4
Single nucleotide variant
(intron variant)
Progressive familial heart block type IB
+2 more
GBenign
TRPM4
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+3 more
GLikely benign
TRPM4
Single nucleotide variant
(intron variant)
Erythrokeratodermia variabilis et progressiva 6
+2 more
GBenign
TRPM4
(P102L +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TRPM4
(L436Q +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+1 more
GUncertain significance
TRPM4
(V667E +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(R252C +2 more)
Single nucleotide variant
(missense variant +1 more)
Erythrokeratodermia variabilis et progressiva 6
+3 more
GUncertain significance
TRPM4
Single nucleotide variant
(synonymous variant +1 more)
Progressive familial heart block type IB
+1 more
GConflicting classifications of pathogenicity
TRPM4
(I442V +5 more)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GUncertain significance
TRPM4
(R429H +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+3 more
GUncertain significance
TRPM4
(G381R +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+1 more
GUncertain significance
TRPM4
Single nucleotide variant
(synonymous variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(G64S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TRPM4
(R113H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TRPM4
(A593D +5 more)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 6
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(3 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GUncertain significance
TRPM4
(R501L +4 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+1 more
GUncertain significance
TRPM4
(R384W +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(P374L +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+1 more
GUncertain significance
TRPM4
(G662D +4 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(Y1015D +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TRPM4
(R268C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TRPM4
(R352C +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TRPM4
(R947G +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TRPM4
(N116S +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(K389T +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(intron variant)
Progressive familial heart block type IB
+1 more
GLikely benign
TRPM4
Single nucleotide variant
(synonymous variant +1 more)
Erythrokeratodermia variabilis et progressiva 6
+4 more
GBenign/Likely benign
TRPM4
Single nucleotide variant
(synonymous variant)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GLikely benign
TRPM4
(R212W +2 more)
Single nucleotide variant
(missense variant +1 more)
Erythrokeratodermia variabilis et progressiva 6
+3 more
GUncertain significance
TRPM4
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TRPM4
(I1033M +5 more)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 6
GPathogenic
TRPM4
(I866T +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRPM4
(D262E +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(splice donor variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GUncertain significance
TRPM4
(A380V +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive familial heart block type IB
+4 more
GUncertain significance
TRPM4
(A312V +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(P4R)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(Y968* +5 more)
Single nucleotide variant
(nonsense)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GUncertain significance
TRPM4
(A43T)
Single nucleotide variant
(missense variant +2 more)
Progressive familial heart block type IB
+3 more
GUncertain significance
TRPM4
(S1044C +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(S485fs +4 more)
Duplication
(frameshift variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(splice donor variant +1 more)
not provided
+3 more
GUncertain significance
TRPM4
Single nucleotide variant
(synonymous variant +2 more)
Erythrokeratodermia variabilis et progressiva 6
+2 more
GLikely benign
TRPM4
(R1150L +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(T911M +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(D929N +5 more)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 6
+1 more
GUncertain significance
TRPM4
(V586L +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
TRPM4
(R212Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TRPM4
(W1188L +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TRPM4
(H353fs +5 more)
Deletion
(frameshift variant)
Long QT syndrome
+4 more
GUncertain significance
TRPM4
(G880S +4 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(Y971C +5 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block type IB
+3 more
GUncertain significance
TRPM4
(Q8L)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
Single nucleotide variant
(intron variant)
Erythrokeratodermia variabilis et progressiva 6
+3 more
GBenign
TRPM4
(A606G +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TRPM4
(L511Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Progressive familial heart block type IB
+2 more
GUncertain significance
TRPM4
(D226E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination