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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP85L, PLN
(C46R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1P
GLikely benign
CEP85L, PLN
(L43F)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(F32L)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1P
GLikely benign
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1P
GLikely benign
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1P
GLikely benign
PLN, CEP85L
Duplication
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
CEP85L, PLN
(Y6H)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
PLN, CEP85L
(C41S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(A11P)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(F35fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1P
GPathogenic
PLN, CEP85L
(V49fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
PLN, CEP85L
(I48S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(L43fs)
Microsatellite
(intron variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
PLN, CEP85L
(I12T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1P
GLikely benign
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Deletion
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
(F32fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
(E19G)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CEP85L, PLN
(I47M)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(A11T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
PLN, CEP85L
(L42I)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(K27E)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CEP85L, PLN
(V4fs)
Duplication
(frameshift variant +1 more)
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
(L52I)
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Duplication
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Duplication
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(M50T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(Q29*)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
(A11fs)
Duplication
(frameshift variant +1 more)
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypertrophic cardiomyopathy 18
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1P
GConflicting classifications of pathogenicity
CEP85L, PLN
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
PLN, CEP85L
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(L51I)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
PLN, CEP85L
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
CEP85L, PLN
Deletion
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
Duplication
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(I12M)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
CEP85L, PLN
(I18T)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+4 more
GUncertain significance
CEP85L, PLN
(I38T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
CEP85L, PLN
(R14I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CEP85L, PLN
(S10L)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Duplication
(inframe_insertion +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Duplication
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(T8P)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
PLN, CEP85L
(R25H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypertrophic cardiomyopathy 18
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypertrophic cardiomyopathy 18
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GBenign
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
GLikely benign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(5 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
PLN, CEP85L
Single nucleotide variant
(5 prime UTR variant +1 more)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
CEP85L, PLN
Duplication
Dilated cardiomyopathy 1P
GUncertain significance
PLN
Deletion
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
+1 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(I12V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 18
+1 more
GUncertain significance
CEP85L, PLN
(L44P)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CEP85L, PLN
(R25C)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(Q22fs)
Duplication
(frameshift variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(R25G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PLN, CEP85L
(R9H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(V49M)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GUncertain significance
CEP85L, PLN
(P21T)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 18
+2 more
GUncertain significance
CEP85L, PLN
(A15T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(R14del)
Microsatellite
(inframe_deletion +1 more)
Dilated cardiomyopathy 1P
+6 more
GConflicting classifications of pathogenicity
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
PLN, CEP85L
(L51P)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(L39*)
Single nucleotide variant
(nonsense +1 more)
Intrinsic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
CEP85L, PLN
(R9C)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
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