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Items: 57

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
LOC124416905, LOC124416906
+318 more
Copy number loss
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
CASP7
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CASP7
(E42K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
(D48V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP7
(G103S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP7
(P109T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP7
(L68V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
(S70G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
Microsatellite
(intron variant)
not provided
GLikely benign
CASP7, LOC126861046
(M37T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP7, LOC126861046
(V119F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP7, LOC126861046
(V171I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP7, LOC126861046
(L105F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP7, LOC126861046
(D121E +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CASP7
(C171S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
(F156L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CASP7
(Q159R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
(E165K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
(S199L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP7
(P236L)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
CASP7
(D230E +5 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CASP7
(H247Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
(Q262E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
(I263M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
(P322S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CASP7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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
CASP7, HABP2
+1 more
Copy number gain
not provided
GUncertain significance
ABLIM1, ABRAXAS2
+130 more
Copy number gain
not provided
GPathogenic
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
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
CASP7, HABP2
+2 more
Copy number loss
See cases
GUncertain significance
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic
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