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Items: 95

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
ABLIM1, ACSL5
+308 more
Copy number loss
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
ABLIM1, ACSL5
+134 more
Copy number loss
See cases
GLikely pathogenic
ABLIM1, ABRAXAS2
+679 more
Copy number gain
See cases
GPathogenic
LOC130004765, LOC130004766
+109 more
Copy number loss
See cases
GPathogenic
LOC126861050, LOC126861051
+248 more
Copy number gain
See cases
GLikely pathogenic
ABLIM1
(I359V +20 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(E691K +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R326L +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R309G +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(T410A +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(G305V +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(Y254C +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(Y312C +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R268P +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R317Q +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(S281P +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R230Q +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R277W +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(E167K +20 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(D192G +21 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(I241F +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(T451S +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(S541A +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(A164T +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ABLIM1
(R153W +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(L150V +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(P203T +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(G171S +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(R395H +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(T182M +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R121C +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(Y309D +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(H388L +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R103Q +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R101Q +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(T113S +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R352K +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(Y330H +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(S290L +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(G285A +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(P208R +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1, LOC126861051
(V271I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(Q164H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(P246S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(D225N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(P119L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(D172G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
Microsatellite
(genic upstream transcript variant)
not provided
GLikely benign
ABLIM1
(S224N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(G194R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R129H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(E103D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(G83S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(R5C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(G95R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM1
(M153V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(R75Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(F137L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1, ATRNL1
+18 more
Copy number gain
See cases
GLikely benign
ABLIM1, ATRNL1
+45 more
Copy number loss
See cases
GPathogenic
ABLIM1
(P45R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(P85A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(H7Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(C75R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(R73C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(H59R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(A55G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(R53S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABLIM1
(S32L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ABLIM1, ACSL5
+70 more
Copy number gain
not specified
GLikely pathogenic
ABLIM1, ABRAXAS2
+117 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+145 more
Copy number gain
Distal trisomy 10q
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not specified
GPathogenic
ABLIM1, ACSL5
+32 more
Copy number loss
not provided
GUncertain significance
ABLIM1, AFAP1L2
Copy number gain
not provided
GUncertain significance
ABLIM1, ABRAXAS2
+130 more
Copy number gain
not provided
GPathogenic
ABLIM1
Copy number gain
not provided
GUncertain significance
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not provided
GPathogenic
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+157 more
Copy number gain
not provided
GPathogenic
ABLIM1
Copy number gain
not provided
GLikely benign
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABLIM1, ABRAXAS2
+151 more
Copy number gain
See cases
GPathogenic
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
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic
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