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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP85L, PLN
(Q22fs)
Deletion
(frameshift variant +1 more)
Hypertrophic cardiomyopathy 18
GLikely pathogenic
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
(P21S)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 18
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)
Hypertrophic cardiomyopathy 18
+1 more
GUncertain significance
PLN, CEP85L
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
(I18T)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+4 more
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)
Hypertrophic cardiomyopathy 18
+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
+1 more
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
(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
(intron variant)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
(L44P)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
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)
Dilated cardiomyopathy 1P
+2 more
GUncertain significance
CEP85L, PLN
(R14del)
Microsatellite
(inframe_deletion +1 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(L39*)
Single nucleotide variant
(nonsense +1 more)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
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