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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
ELOVL3
(M5V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(N6S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(V7I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(V7G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(M55R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(I68V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(M89I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(L93P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(G96R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(G97S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ELOVL3
(V102M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(H145Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(S150I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(S150R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(V154M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(G176A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(T183A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(I202N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(C229R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(I241V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ELOVL3
(M244V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELOVL3
(T245I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTR1A, ARL3
+35 more
Deletion
See cases
GPathogenic
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
CPN1, CRTAC1
+95 more
Duplication
not provided
GUncertain significance
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
NT5C2, WBP1L
+30 more
Copy number loss
not provided
GLikely pathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
CYP17A1, KLLN
+206 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic
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