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Items: 1 to 100 of 433

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003132, LOC130003133
+1210 more
Copy number gain
See cases
GPathogenic
AK1, ANGPTL2
+309 more
Copy number loss
See cases
GPathogenic
AK1, ASB6
+264 more
Copy number loss
See cases
GPathogenic
ASB6, BBLN
+239 more
Copy number gain
See cases
GPathogenic
CERCAM, COQ4
+70 more
Copy number loss
See cases
GPathogenic
CRAT, DOLK
+72 more
Copy number loss
See cases
GUncertain significance
DOLK, ENDOG
+16 more
Copy number gain
See cases
GUncertain significance
ABL1, ASB6
+179 more
Copy number gain
See cases
GUncertain significance
LRRC8A
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRC8A
Single nucleotide variant
(5 prime UTR variant)
Agammaglobulinemia 5, autosomal dominant
GBenign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(R8H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LRRC8A
(T13M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(P15L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 5, autosomal dominant
+1 more
GBenign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(Y30del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(V34I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRRC8A
(M35V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(M35K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(D67Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LRRC8A
(S68L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(F69L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(R70W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRRC8A
(R70Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRRC8A
(G71S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LRRC8A
(G71R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(A73S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(P77L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(T80I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LRRC8A
(P82L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LRRC8A
(T85S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(P88L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRRC8A
(T92A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(T92M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(T95I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LRRC8A
(G96S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(K98Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(N107S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRRC8A
(V109M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(V109L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(Y114C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(H119Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(H119R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(L128V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(L130P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(F136Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(R148C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
(R148H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(V157M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(D165N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRC8A
(A172V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRC8A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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