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Links from MedGen

Items: 1 to 100 of 228

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJA5
(Y172*)
Single nucleotide variant
(nonsense)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5, LOC122128420
(P275S)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5, LOC122128420
(I208M)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(L26F)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(S345N)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5, LOC122128420
(K204E)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
(P59L)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(F70L)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
Deletion
(inframe_indel)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(D355E)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
(D340E)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
GJA5, LOC122128420
(K233del)
Microsatellite
(inframe_deletion)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(V91A)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
(K232fs)
Deletion
(frameshift variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(V184I)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(G309R)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(P126Q)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(R118G)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
GJA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
GJA5, LOC122128420
(E272D)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
(P193L)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
(P193fs)
Deletion
(frameshift variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5, LOC122128420
(S260fs)
Deletion
(frameshift variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
(Q314H)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5, LOC122128420
(I257V)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
LOC122128420, GJA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
GJA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
GJA5
(F178fs)
Deletion
(frameshift variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
(S349N)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(M102L)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5, LOC122128420
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
(G166fs)
Deletion
(frameshift variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(P308R)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
(G309A)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
GJA5, LOC122128420
(V258F)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5, LOC122128420
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
(I83T)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5, LOC122128420
(F279S)
Single nucleotide variant
(missense variant)
Atrial standstill 1
GUncertain significance
GJA5
(G311A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GJA5
(Y92S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GJA5, LOC122128420
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
GJA5, LOC122128420
(A216T)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5, LOC122128420
(G274D)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
(G166A)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5, LOC122128420
(P275R)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5, LOC122128420
(E272A)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(L90P)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
(K341N)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(V100G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GJA5, LOC122128420
(R200W)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
(A288V)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(A96D)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
Duplication
(inframe_insertion)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(R160H)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(E305K)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
(E203K)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
(Q68R)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
GJA5, LOC122128420
(A213D)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5, LOC122128420
(P189R)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
(P241R)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5, LOC122128420
(L217P)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
(G139R)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(G303D)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
(R316L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GJA5
(G330A)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
(P334T)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(G8fs)
Deletion
(frameshift variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
(A347P)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 11
+1 more
GLikely benign
GJA5
(G94fs)
Deletion
(frameshift variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5, LOC122128420
(H244Y)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5, LOC122128420
(K278fs)
Deletion
(frameshift variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5
(L344I)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
GJA5, LOC122128420
(N195S)
Single nucleotide variant
(missense variant)
Atrial standstill 1
+1 more
GUncertain significance
GJA5, LOC122128420
Single nucleotide variant
(synonymous variant)
Atrial standstill 1
+1 more
GLikely benign
GJA5
(I174N)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 11
+1 more
GUncertain significance
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