U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+679 more
Copy number gain
See cases
GPathogenic
ABRAXAS2, ACADSB
+514 more
Copy number gain
See cases
GPathogenic
LOC130004884, LOC130004885
+438 more
Copy number gain
See cases
GPathogenic
LOC130004881, LOC130004882
+418 more
Copy number loss
See cases
GPathogenic
LOC130005014, LOC130005015
+409 more
Copy number loss
See cases
GPathogenic
FUOM, GLRX3
+399 more
Copy number loss
See cases
GPathogenic
LOC130004911, LOC130004912
+395 more
Copy number loss
See cases
GPathogenic
ACADSB, ARMS2
+81 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ACADSB
+383 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ACADSB
+164 more
Copy number loss
See cases
GPathogenic
LOC130004994, LOC130004995
+361 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ACADSB
+182 more
Copy number loss
See cases
GPathogenic
CHST15, CPXM2
+20 more
Copy number gain
See cases
GUncertain significance
ABRAXAS2, ADAM12
+331 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+318 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+318 more
Copy number loss
See cases
GPathogenic
CPXM2
(R755H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R748Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R744P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R680H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(G665V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(G643D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R642C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
Single nucleotide variant
(intron variant)
not provided
GBenign
CPXM2
(R630W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(Y610C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(I609V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(C604Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(V590I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(N583S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(K577R)
Single nucleotide variant
(missense variant)
not provided
GBenign
CPXM2
(M562V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R560C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(S554F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R549C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(D545N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(D544N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(N491S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(Y480C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(N478D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R469Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CPXM2
(D468Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(N460D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(G443R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(D425H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(V408I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(A402V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(Q394R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R386Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(A376V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(Y374H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(E371K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(P370H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(V367L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(Y354F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(S347N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(N337D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(N332S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R305W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(Y301C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(F279S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R272H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R269H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(V264F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(I256M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(V229M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R204K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CPXM2
(G187E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(A183V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(Y180H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CPXM2
(R167T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(G166E)
Single nucleotide variant
(missense variant)
Breast ductal adenocarcinoma
GUncertain significance
CPXM2
(R165Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(H164R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R158L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(H152L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R129H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CPXM2
(M110I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(E92K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(K86R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(R72P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPXM2
(E44A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABRAXAS2, ACADSB
+80 more
Copy number loss
not provided
GPathogenic
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ABLIM1, ABRAXAS2
+117 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+145 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, ADAM12
+62 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
GLRX3, GPR26
+77 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABRAXAS2, ACADSB
+80 more
Copy number loss
not provided
GPathogenic
CHST15, CPXM2
Copy number gain
not provided
GUncertain significance
CPXM2
Copy number gain
not provided
GUncertain significance
FAM24A, FAM24B
+80 more
Copy number loss
not specified
GPathogenic
ABRAXAS2, ACADSB
+68 more
Copy number gain
not specified
GLikely pathogenic
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not specified
GPathogenic
Format
Items per page
Sort by
Choose Destination