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 3753

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
ADAM17, ADI1
+546 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
APOB, APOB-ICR
+131 more
Copy number loss
See cases
GPathogenic
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Familial hypobetalipoproteinemia 1
+1 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Hypercholesterolemia, familial, 1
+1 more
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Familial hypobetalipoproteinemia 1
+2 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Familial hypobetalipoproteinemia 1
+2 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Hypercholesterolemia, familial, 1
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
Familial hypobetalipoproteinemia 1
+1 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
Deletion
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB, APOB3'MAR
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
(T4560N)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB, APOB3'MAR
(T4560A)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, APOB3'MAR
(L4559F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
APOB, APOB3'MAR
(E4558K)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+2 more
GUncertain significance
APOB, APOB3'MAR
(G4557A)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+3 more
GConflicting classifications of pathogenicity
APOB3'MAR, APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB, APOB3'MAR
(A4555S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB, APOB3'MAR
(K4553N)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB, APOB3'MAR
(M4552V)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+3 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
(Y4551*)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB, APOB3'MAR
(Y4551H)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
(P4550T)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, APOB3'MAR
(N4549K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB, APOB3'MAR
(N4549K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB, APOB3'MAR
(M4548V)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+2 more
GLikely benign
APOB, APOB3'MAR
(T4546fs)
Microsatellite
(frameshift variant)
APOB-related disorder
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
APOB, APOB3'MAR
(Q4543*)
Single nucleotide variant
(nonsense)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB, APOB3'MAR
(K4541N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB, APOB3'MAR
(K4541Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
APOB, APOB3'MAR
(L4539P)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB, APOB3'MAR
(L4539M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB, APOB3'MAR
(L4538*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
APOB, APOB3'MAR
(T4536M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
(Y4534C)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+3 more
GUncertain significance
APOB, APOB3'MAR
(Y4534N)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB, APOB3'MAR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
APOB, APOB3'MAR
(T4530I)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB, APOB3'MAR
(H4529R)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+3 more
GConflicting classifications of pathogenicity
APOB, APOB3'MAR
(Y4528C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB
(N4527I)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(Q4526*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
GUncertain significance
APOB
(I4525F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
APOB
(S4524F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+3 more
GConflicting classifications of pathogenicity
APOB
(D4522N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB
(L4520S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+2 more
GLikely benign
APOB
(R4519G)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
APOB
(S4517F)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+2 more
GBenign/Likely benign
APOB
(F4513C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
APOB
(D4508G)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+2 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
APOB
(Y4497D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
APOB
(Y4497H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
APOB
(R4496G)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(Q4494del)
Microsatellite
(inframe_deletion)
Hypercholesterolemia, familial, 1
+5 more
GConflicting classifications of pathogenicity
APOB
(Q4493fs)
Duplication
(frameshift variant)
not specified
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
APOB
(I4488T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
APOB
(K4485T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+4 more
GLikely benign
APOB
(T4484M)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+6 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
APOB
(A4483V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
APOB
(A4483S)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(I4482M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
APOB
(I4482T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GLikely benign
APOB
(I4482V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(A4481T)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+6 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
(Q4474H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
APOB
(Q4474K)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB
(Q4474E)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination