U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 33

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
LDB1
(S398N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(E339D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(E351K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(V303M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(M307V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(G268C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(R254C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(R222H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(N201S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(M186I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1, LOC126861021
(Q125H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1, LOC126861021
(C159S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1, LOC126861021
(E133D +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LDB1, LOC126861021
(Q66P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1, LOC126861021
(V6M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LDB1
(G26S)
Single nucleotide variant
(missense variant +1 more)
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
HPS6, NOLC1
+4 more
Copy number gain
not provided
GUncertain significance
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
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
Format
Items per page
Sort by
Choose Destination