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Items: 1 to 100 of 2253

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
LOC111822949, LOC112272574
+664 more
Copy number gain
See cases
GPathogenic
LOC130057971, LOC130057972
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ALPK3, LINC00933
+42 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+40 more
Copy number gain
See cases
GUncertain significance
ALPK3, LINC00933
+41 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+40 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+42 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+39 more
Deletion
not provided
GUncertain significance
ALPK3
Duplication
not provided
GBenign
ALPK3
Duplication
not provided
GLikely benign
ALPK3
Deletion
not provided
GLikely benign
ALPK3
Single nucleotide variant
not provided
GBenign
ALPK3
Single nucleotide variant
not specified
GLikely benign
ALPK3
Single nucleotide variant
Cardiovascular phenotype
GUncertain significance
ALPK3
Single nucleotide variant
Cardiovascular phenotype
GUncertain significance
ALPK3
(E2K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
ALPK3
(W5C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
ALPK3
(V9L)
Indel
(missense variant)
not provided
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
ALPK3
(Q12R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(Q13*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ALPK3
(A16T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GUncertain significance
ALPK3
(R24P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(R24Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ALPK3
(P27S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
(P27R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(P27L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GUncertain significance
ALPK3
(V32D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
Deletion
not provided
GPathogenic
ALPK3
(W34*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALPK3
(P36L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
ALPK3
(G37D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
(L38I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ALPK3
(R40L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(R40P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(R40Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ALPK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALPK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALPK3
(S42R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(P43Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
(S44C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GUncertain significance
ALPK3
Deletion
(inframe_indel)
not provided
GUncertain significance
ALPK3
(A47E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
ALPK3
(V48A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALPK3
(D49N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
Duplication
(inframe_indel)
not provided
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GUncertain significance
ALPK3
(A51P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
(P52S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ALPK3
(L53V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALPK3
(P55Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(P55L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GLikely benign
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
ALPK3
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(R59C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ALPK3
(R59L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ALPK3
Single nucleotide variant
not provided
GLikely benign
ALPK3
Single nucleotide variant
not provided
GLikely benign
ALPK3
(L62F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
ALPK3
(C64*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GBenign
ALPK3
(H65L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ALPK3
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
ALPK3
(T66R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GUncertain significance
ALPK3
(G67R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ALPK3
Single nucleotide variant
not provided
GUncertain significance
ALPK3
(E69K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(E69Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ALPK3
(Q70K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK3
(R73Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(E74K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALPK3
(P75S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
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