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Items: 1 to 100 of 866

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
LOC129999940, LOC129999941
+687 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+736 more
Copy number gain
See cases
GPathogenic
LOC126860300, LOC126860301
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
XKR5, XKR6
+773 more
Copy number loss
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC126860319, LOC126860320
+696 more
Copy number gain
See cases
GPathogenic
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+499 more
Copy number gain
See cases
GPathogenic
LOC132089588, LOC132089589
+510 more
Copy number loss
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+665 more
Copy number gain
See cases
GPathogenic
LOC129999967, LOC129999968
+870 more
Copy number gain
See cases
GPathogenic
KAT6A-AS1, KCNU1
+929 more
Copy number gain
See cases
GPathogenic
LOC130000074, LOC130000075
+929 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+705 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+870 more
Copy number gain
See cases
GPathogenic
LOC124153144, LOC124153145
+818 more
Copy number gain
See cases
GPathogenic
LOC113788268, LOC113788269
+929 more
Copy number gain
See cases
GPathogenic
LOC128772328, LOC129389957
+653 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+567 more
Copy number loss
Microcephaly
GPathogenic
ADAM28, ADAM7
+567 more
Copy number gain
See cases
GPathogenic
LOC130000303, LOC130000304
+922 more
Copy number gain
See cases
GPathogenic
LOC113788272, LOC113788273
+807 more
Copy number gain
See cases
GPathogenic
LOC130000012, LOC130000013
+857 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000050, LOC130000051
+791 more
Copy number gain
See cases
GPathogenic
ASAH1, ASAH1-AS1
+144 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+523 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
ASAH1, ASAH1-AS1
+140 more
Copy number gain
See cases
GPathogenic
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+532 more
Copy number loss
See cases
GPathogenic
LOC129389962, LPL
Copy number loss
See cases
GLikely benign
LPL
Single nucleotide variant
Hyperlipoproteinemia, type I
GUncertain significance
LPL
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
LPL
Single nucleotide variant
not provided
+1 more
GBenign
LPL
Single nucleotide variant
not specified
+1 more
GConflicting classifications of pathogenicity
LPL
Single nucleotide variant
not specified
GUncertain significance
LPL
Duplication
(5 prime UTR variant)
Hyperlipoproteinemia, type I
+1 more
GConflicting classifications of pathogenicity
LPL
Single nucleotide variant
(5 prime UTR variant)
Hyperlipoproteinemia, type I
GUncertain significance
LPL
Single nucleotide variant
(5 prime UTR variant)
Hyperlipoproteinemia, type I
GUncertain significance
LPL
Single nucleotide variant
(5 prime UTR variant)
Hyperlipoproteinemia, type I
GUncertain significance
LPL
Single nucleotide variant
(5 prime UTR variant)
Hyperlipoproteinemia, type I
GUncertain significance
LPL
Single nucleotide variant
(5 prime UTR variant)
Hyperlipoproteinemia, type I
GUncertain significance
LPL
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
LPL
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
(S3N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LPL
(K4fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
(A12V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LPL
Single nucleotide variant
(synonymous variant)
Hyperlipoproteinemia, type I
GUncertain significance
LPL
(V13L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LPL
(W14*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LPL
(L15I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
(Q16fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
(T19N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
(A20fs)
Indel
(frameshift variant)
Cardiovascular phenotype
GPathogenic
LPL
(A20V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
(R22S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LPL
(G23E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LPL
(A27S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LPL
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LPL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LPL
Deletion
(splice donor variant)
not provided
GLikely pathogenic
LPL
Duplication
(splice donor variant)
not provided
GPathogenic
LPL
Single nucleotide variant
(splice donor variant)
Hyperlipidemia, familial combined, LPL related
GPathogenic
LPL
Single nucleotide variant
(splice donor variant)
Hyperlipoproteinemia, type I
GPathogenic
LPL
Single nucleotide variant
(intron variant)
Hyperlipoproteinemia, type I
GUncertain significance
LPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LPL
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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