U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 186

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123775388, LOC123775389
+1449 more
Copy number gain
See cases
GPathogenic
LOC129389591, LOC129389592
+558 more
Copy number loss
See cases
GPathogenic
LOC129997076, LOC129997077
+460 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+472 more
Copy number loss
See cases
GPathogenic
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
LOC129389639, LOC129389640
+254 more
Copy number loss
See cases
GPathogenic
AKAP7, ARG1
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
ASF1A, CEP85L
+68 more
Copy number loss
See cases
GLikely pathogenic
ASF1A, CENPW
+147 more
Copy number gain
See cases
GPathogenic
CEP85L, LOC110121273
+10 more
Copy number gain
See cases
GUncertain significance
CEP85L, LOC110121273
+8 more
Copy number gain
See cases
GUncertain significance
ASF1A, CEP85L
+32 more
Copy number gain
See cases
GUncertain significance
CEP85L, PLN
Deletion
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
Duplication
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Duplication
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
PLN-related condition
+2 more
GConflicting classifications of pathogenicity
CEP85L, PLN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
Lissencephaly 10
+3 more
GBenign
CEP85L, PLN
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
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)
Dilated cardiomyopathy 1P
+1 more
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GBenign
CEP85L, PLN
Deletion
(intron variant)
not provided
GLikely benign
CEP85L, PLN
Microsatellite
(intron variant)
not provided
GBenign
CEP85L, PLN
Microsatellite
(intron variant)
not provided
GBenign
CEP85L, PLN
Microsatellite
(intron variant)
not provided
GBenign
CEP85L, PLN
Microsatellite
(intron variant)
not provided
GBenign
CEP85L, PLN
Microsatellite
(intron variant)
not provided
GBenign
CEP85L, PLN
Deletion
(intron variant)
not provided
GBenign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GBenign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GBenign
CEP85L, PLN
Deletion
(intron variant)
not provided
GLikely benign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GBenign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GBenign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GBenign
PLN, CEP85L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP85L, PLN
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
CEP85L, PLN
Duplication
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CEP85L, PLN
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
CEP85L, PLN
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
CEP85L, PLN
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
(M1T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CEP85L, PLN
(V4fs)
Duplication
(frameshift variant +1 more)
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
(Q5R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP85L, PLN
(Y6H)
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
PLN, CEP85L
(A11fs)
Duplication
(frameshift variant +1 more)
Dilated cardiomyopathy 1P
GPathogenic
PLN, CEP85L
(T8P)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(R9C)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
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)
Dilated cardiomyopathy 1P
+1 more
GLikely benign
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(S10L)
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
PLN, CEP85L
(A11T)
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
(R13fs)
Duplication
(frameshift variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
(I12V)
Single nucleotide variant
(intron variant +1 more)
not provided
+3 more
GUncertain significance
CEP85L, PLN
(I12T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
CEP85L, PLN
(R13fs)
Duplication
(frameshift variant +1 more)
not specified
GUncertain significance
CEP85L, PLN
(I12M)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
CEP85L, PLN
(R14del)
Microsatellite
(inframe_deletion +1 more)
Cardiovascular phenotype
+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
(A15T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CEP85L, PLN
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1P
GLikely benign
CEP85L, PLN
(I18T)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+4 more
GUncertain significance
CEP85L, PLN
(E19G)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CEP85L, PLN
(P21S)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 18
GUncertain significance
CEP85L, PLN
(Q22fs)
Duplication
(frameshift variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(P21T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
+2 more
GUncertain significance
CEP85L, PLN
(Q22fs)
Deletion
(frameshift variant +1 more)
Hypertrophic cardiomyopathy 18
GLikely pathogenic
CEP85L, PLN
(Q23E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1P
+1 more
GLikely benign
PLN, CEP85L
(R25C)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(R25G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CEP85L, PLN
(R25H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
CEP85L, PLN
(K27E)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(Q29*)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1P
GPathogenic
PLN, CEP85L
(Q29H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1P
GConflicting classifications of pathogenicity
CEP85L, PLN
(F32fs)
Deletion
(intron variant +1 more)
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
(F32L)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
GUncertain significance
CEP85L, PLN
(F35fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1P
GPathogenic
CEP85L, PLN
(I38T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1P
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)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
PLN, CEP85L
(C41S)
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
Format
Items per page
Sort by
Choose Destination