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Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057943, LOC130057944
+664 more
Copy number gain
See cases
GPathogenic
LOC130057907, LOC130057908
+630 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
MIR11181, MIR1179
+517 more
Copy number gain
See cases
GPathogenic
LOC130057997, LOC130057998
+500 more
Copy number gain
See cases
GPathogenic
LOC130057929, LOC130057930
+311 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
BLM, CIB1
+44 more
Copy number loss
See cases
GUncertain significance
CIB1, GDPGP1
(L3R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(L13V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(N18S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(G40R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(A47V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R77C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(G90D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(V95M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R102C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R102P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(F119S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(P121S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(E151Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(L154M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(V156M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CIB1, GDPGP1
(R175G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R175S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R175L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R180C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(H198P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(S213L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R227T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(P240S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(H245P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(S271R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R275W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R275Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(H283R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(H287Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R293W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(R293Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(N329S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(T343I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(F347Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(A355T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(L358F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIB1, GDPGP1
(V372I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD2, ACAN
+29 more
Deletion
D-2-hydroxyglutaric aciduria 2
+1 more
GConflicting classifications of pathogenicity
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+86 more
Copy number gain
not provided
GPathogenic
AAGAB, ABHD17C
+209 more
Copy number gain
not provided
GPathogenic
ABHD2, ACAN
+37 more
Duplication
D-2-hydroxyglutaric aciduria 2
GUncertain significance
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
ABHD2, ANPEP
+41 more
Copy number loss
not provided
GPathogenic
ABHD2, ACAN
+50 more
Copy number loss
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
ABHD2, ACAN
+77 more
Copy number loss
See cases
GPathogenic
ABHD2, ACAN
+76 more
Copy number loss
not provided
GPathogenic
ADAMTS17, ALDH1A3
+54 more
Copy number gain
not provided
GPathogenic
ABHD2, ACAN
+58 more
Copy number loss
not provided
GPathogenic
ABHD2, ADAMTS17
+66 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+143 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
ABHD2, ACAN
+55 more
Copy number gain
See cases
GLikely pathogenic
ABHD17C, ABHD2
+153 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+79 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+51 more
Copy number loss
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+87 more
Copy number gain
See cases
GPathogenic
FANCI, FES
+50 more
Copy number loss
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
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