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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP85L, PLN
(R9C)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(I12V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CEP85L, PLN
(I12M)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
PLN, CEP85L
(R14del)
Microsatellite
(inframe_deletion +1 more)
Dilated cardiomyopathy 1P
+6 more
GConflicting classifications of pathogenicity
PLN, CEP85L
(I18T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GUncertain significance
CEP85L, PLN
(Q22fs)
Duplication
(frameshift variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(L39*)
Single nucleotide variant
(nonsense +1 more)
Primary dilated cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
PLN, CEP85L
(V49M)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GUncertain significance
CEP85L, PLN
(M50L)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
CEP85L, PLN
(M50T)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
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