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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP85L, PLN
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
(R9H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(R13fs)
Duplication
(frameshift variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
(I12V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CEP85L, PLN
(I12T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CEP85L, PLN
(R14del)
Microsatellite
(inframe_indel +2 more)
SUDDEN INFANT DEATH SYNDROME
+6 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(R13K)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
(R14I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CEP85L, PLN
(I18T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
+4 more
GUncertain significance
CEP85L, PLN
(E19G)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
(Q22fs)
Duplication
(frameshift variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(R25C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(R25H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
CEP85L, PLN
(Q29*)
Single nucleotide variant
(nonsense +1 more)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
PLN, CEP85L
(Q29H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
(I38M)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
(L39*)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1P
+7 more
GPathogenic/Likely pathogenic
CEP85L, PLN
(L43fs)
Microsatellite
(frameshift variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CEP85L, PLN
(L44P)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
CEP85L, PLN
(V49M)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 18
+4 more
GUncertain significance
CEP85L, PLN
(M50I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
(M50fs)
Indel
(frameshift variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
(L52I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GLikely benign
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