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Links from MedGen

Items: 1 to 100 of 3266

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
Deletion
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Deletion
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(L463fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(S299R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(N287T)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(D1941V +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(Q1252* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Single nucleotide variant
(splice donor variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely pathogenic
DSP
Duplication
(inframe_insertion)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(L2563F +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(R1045P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(L1756fs)
Duplication
(intron variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(L1600V +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GLikely benign
DSP
(M83fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(S1371fs +2 more)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1651*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(S1915F +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(T842S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(L1007fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(D480fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(I248V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(E348*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(M924fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(K1251Q +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(L1769fs)
Duplication
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(W233*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(L354R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(T1688A +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
DSP
(Q1418*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(K2714* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(W298G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(E1677G +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(A1307F)
Indel
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(E1081D)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(I1441V +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(E1214fs +2 more)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(Y1210C)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(R1124K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(S1349fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q884E)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP, DSP-AS1
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(A311P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(I1320V)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(Q130R)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(R771fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(E147Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(Q2672fs +2 more)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(L1806fs +2 more)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic/Likely pathogenic
DSP
(Q1286*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1488*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(R1537fs)
Duplication
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(Q1635fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(S1284* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(R1628fs)
Indel
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(E426*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(N1048K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DSP
(E1677K +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(L540P)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Deletion
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(V1585E +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(D2545Y +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(A311fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(R561fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(E2057G +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(C482fs)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(A1044V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(V321D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(R315Q)
Indel
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(V508fs)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
Deletion
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
DSP
(R869K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(I1494T +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP, DSP-AS1
Duplication
(inframe_insertion)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(S1803G +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(E2629G +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
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