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Links from MedGen

Items: 1 to 100 of 1415

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCN4
(P1073R)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4, LOC105370890
Single nucleotide variant
(non-coding transcript variant +1 more)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4, LOC105370890
+1 more
(M343L)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(intron variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(intron variant)
Brugada syndrome 8
GLikely benign
HCN4
(A1010T)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(L1203P)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(A472T)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(T1075del)
Deletion
(inframe_deletion)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(intron variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(K463E)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(S1087F)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(intron variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(S138P)
Indel
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(intron variant)
Brugada syndrome 8
GLikely benign
HCN4
(L777R)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(F1038L)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(intron variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(R11P)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(G1097E)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(S923T)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(P1055S)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(S831F)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(R1068P)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(G1124S)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(P165Q)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(L729V)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4, LOC105370890
+1 more
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(Y678C)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(P1146S)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(G91S)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(intron variant)
Brugada syndrome 8
GLikely benign
HCN4
(T1151S)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(V899G)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
+1 more
GLikely benign
HCN4, LOC105370890
Single nucleotide variant
(non-coding transcript variant +1 more)
Brugada syndrome 8
GLikely benign
HCN4
Duplication
(intron variant)
Brugada syndrome 8
GBenign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(L15F)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(L722F)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(A1057V)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(N690I)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Deletion
(inframe_deletion)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
+1 more
GLikely benign
HCN4
(P1028A)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(H757Y)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
HCN4
(P834T)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(R1069L)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(M26T)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(G79R)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(intron variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(intron variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(Q160H)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(A753V)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(R700Q)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(S656T)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(Q737H)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(R524W)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
Single nucleotide variant
(synonymous variant)
Brugada syndrome 8
GLikely benign
HCN4
(R97C)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
HCN4
(V604M)
Single nucleotide variant
(missense variant)
Brugada syndrome 8
GUncertain significance
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