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Items: 1 to 100 of 1833

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065344, LOC130065345
+455 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+833 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
SPEF1, SPTLC3
+571 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
LOC105372493, LOC105372524
+579 more
Copy number gain
See cases
GPathogenic
LOC126863004, LOC126863005
+814 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+581 more
Copy number gain
See cases
GPathogenic
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
ANKEF1, BMP2
+109 more
Copy number loss
See cases
GPathogenic
ANKEF1, HAO1
+71 more
Copy number loss
See cases
GPathogenic
ANKEF1, BTBD3
+87 more
Copy number gain
See cases
GUncertain significance
ANKEF1, BTBD3
+55 more
Copy number loss
See cases
GPathogenic
LOC130065574, LOC130065575
+950 more
Copy number gain
See cases
GPathogenic
LOC128706666, LOC130065416
+23 more
Deletion
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
+1 more
GBenign
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
+1 more
GConflicting classifications of pathogenicity
JAG1
Microsatellite
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
JAG1
Duplication
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GLikely benign
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GBenign
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Deletion
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
+1 more
GUncertain significance
JAG1
Deletion
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GBenign
JAG1
Deletion
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
+1 more
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GBenign
JAG1
Deletion
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
+1 more
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GBenign
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Microsatellite
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
+2 more
GConflicting classifications of pathogenicity
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Duplication
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GBenign
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GBenign
JAG1
Microsatellite
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
+1 more
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GBenign
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Deletion
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GLikely benign
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Deletion
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GBenign
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
+1 more
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GLikely benign
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
JAG1-related disorder
GLikely benign
JAG1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
JAG1
Single nucleotide variant
(3 prime UTR variant)
Isolated Nonsyndromic Congenital Heart Disease
+1 more
GBenign/Likely benign
JAG1
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
JAG1
(V1218E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JAG1
(V1218I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
JAG1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
+3 more
GConflicting classifications of pathogenicity
JAG1
(I1217L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(Y1216*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
JAG1
(E1215A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JAG1
(R1213L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(R1213Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
JAG1
(R1213*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GUncertain significance
JAG1
(A1208V)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(S1207N)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
+1 more
GUncertain significance
JAG1
(E1206V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
JAG1
(N1202D)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
JAG1
(T1197K)
Single nucleotide variant
(missense variant)
JAG1-related disorder
GUncertain significance
JAG1
(T1197A)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(W1196G)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(N1195D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
JAG1
(P1194L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JAG1
(H1193Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JAG1
(H1193Y)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GBenign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Isolated Nonsyndromic Congenital Heart Disease
+4 more
GConflicting classifications of pathogenicity
JAG1
(P1190L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
+1 more
GConflicting classifications of pathogenicity
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
+5 more
GLikely benign
JAG1
(T1189M)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
JAG1
(G1188A)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(G1188S)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
+4 more
GConflicting classifications of pathogenicity
JAG1
(N1187K)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
JAG1
(N1187S)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
+1 more
GConflicting classifications of pathogenicity
JAG1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
JAG1
(P1186L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
JAG1
(P1186R)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(P1186S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Isolated Nonsyndromic Congenital Heart Disease
+3 more
GBenign/Likely benign
JAG1
(P1185L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(E1182V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
JAG1
(E1182K)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
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