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Links from MedGen

Items: 1 to 100 of 2693

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
GUncertain significance
DSP
(W298*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
GLikely pathogenic
DSP
(R1123fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
GLikely pathogenic
DSP
(E1223K)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
GUncertain significance
DSP
(E1989* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 8
GLikely pathogenic
DSP
(G1349fs +2 more)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
GLikely pathogenic
DSP
(Q1560*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
GLikely pathogenic
DSP
(L1469fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
GLikely pathogenic
DSP
(Q1446*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
GLikely pathogenic
DSP
(K1165fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
GLikely pathogenic
DSP
(E1988fs +2 more)
Microsatellite
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 8
GLikely pathogenic
DSP
(A1609D)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
Deletion
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
Deletion
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
Deletion
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
Deletion
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely pathogenic
DSP
Duplication
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
BMP6, DSP
+1 more
Duplication
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
Deletion
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(Q1231R +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(Q2055* +2 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(T830I)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GConflicting classifications of pathogenicity
DSP
(A1406T +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
DSP
(L1392S +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
Single nucleotide variant
(intron variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GLikely benign
DSP
(S1562C)
Single nucleotide variant
(intron variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
(E1272G)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(K1288E +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
Microsatellite
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(N1053D)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(L1114M)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(R1255T)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
(R1352Q +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GConflicting classifications of pathogenicity
DSP
(K492R)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
(N1824S +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(M554V)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(Q117R)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(Y1717H +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(T570fs)
Deletion
(frameshift variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
(R2118T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
(K2035T +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GUncertain significance
DSP
(C191Y)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(A2207V +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
GLikely benign
DSP
(E1180K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(Q616R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(V435M)
Single nucleotide variant
(missense 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
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(A1263V)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(Q1531H)
Single nucleotide variant
(missense variant +1 more)
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)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(L1451V)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(G1503V +2 more)
Single nucleotide variant
(missense 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
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GBenign
DSP
(I1214V)
Single nucleotide variant
(missense variant +1 more)
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
(R1685Q +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(M668L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(E2740Q +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GUncertain significance
DSP
(R1253L +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
(E430K)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(R2239C +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
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GLikely benign
DSP
(P453T)
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
(Q1271R +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(M2117T +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(P460S)
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
(R222L)
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
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
(D1742G)
Single nucleotide variant
(missense variant +1 more)
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
(D802H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
DSP
(I1104M)
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)
Arrhythmogenic right ventricular dysplasia 8
+2 more
GLikely benign
DSP
(K1794Q +2 more)
Single nucleotide variant
(missense 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
(D2197G +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GUncertain significance
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