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Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065401, LOC130065402
+348 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+76 more
Copy number loss
See cases
GPathogenic
ANGPT4, C20orf202
+76 more
Copy number loss
See cases
GLikely pathogenic
C20orf96, CSNK2A1
+51 more
Copy number gain
See cases
GUncertain significance
LOC130065344, LOC130065345
+455 more
Copy number gain
See cases
GPathogenic
LOC129456123, LOC130065248
+833 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+103 more
Copy number loss
See cases
GLikely pathogenic
LOC112694699, LOC112694712
+306 more
Copy number gain
See cases
GUncertain significance
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+571 more
Copy number gain
See cases
GPathogenic
LOC114004355, LOC116286198
+347 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
ANGPT4, C20orf202
+104 more
Copy number loss
See cases
GPathogenic
DEFB129, DEFB132
+96 more
Copy number loss
See cases
GPathogenic
ANGPT4, C20orf202
+76 more
Copy number gain
See cases
GUncertain significance
ADAM33, ADISSP
+579 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+102 more
Copy number loss
See cases
GPathogenic
LOC129391148, LOC129391149
+110 more
Copy number loss
See cases
GPathogenic
ANGPT4, C20orf96
+64 more
Copy number loss
See cases
GPathogenic
FASTKD5, FERMT1
+814 more
Copy number gain
See cases
GPathogenic
LOC130065324, LOC130065325
+581 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf96
+65 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+87 more
Copy number loss
See cases
GPathogenic
ANGPT4, C20orf202
+104 more
Copy number loss
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
C20orf96, DEFB126
+34 more
Copy number gain
See cases
GLikely benign
ANGPT4, C20orf202
+120 more
Copy number loss
See cases
GPathogenic
ANGPT4, C20orf202
+100 more
Copy number gain
See cases
GUncertain significance
CSNK2A1, LOC116286198
+29 more
Copy number loss
See cases
GUncertain significance
ANGPT4, CSNK2A1
+34 more
Copy number gain
See cases
GUncertain significance
TRIB3
(K43R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(L19S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TRIB3
(R56H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIB3
(R34Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIB3
(P39S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(P45L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(G106A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(G107R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(P116L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R149W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(G156R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(Q158R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R139Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(T167I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(S146N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TRIB3
(V161M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R164C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R164L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R164H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(A198V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R187H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R220C +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIB3
(A235V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(S238L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(V244I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TRIB3
(G257D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(H258Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R274S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(Y278C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(S312L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(A288V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R289P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R320C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R293H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R330W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(R316Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIB3
(P324L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(T352A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(V335E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(D370G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(V381L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIB3
(V354E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THBD, TMC2
+164 more
Copy number gain
not provided
GPathogenic
TMEM74B, TMX4
+114 more
Copy number gain
not provided
GPathogenic
ADAM33, ADISSP
+100 more
Copy number gain
not provided
GPathogenic
ANGPT4, C20orf202
+31 more
Copy number gain
not provided
GUncertain significance
ANGPT4, C20orf96
+19 more
Deletion
not provided
GPathogenic
C20orf202, ZCCHC3
+35 more
Deletion
not provided
GPathogenic
C20orf96, CSNK2A1
+10 more
Copy number gain
not specified
GUncertain significance
ANGPT4, C20orf202
+31 more
Copy number loss
not specified
GPathogenic
C20orf96, CSNK2A1
+16 more
Copy number loss
not specified
GLikely pathogenic
ANGPT4, C20orf96
+19 more
Copy number loss
Global developmental delay
+1 more
GPathogenic
RBCK1, TBC1D20
+2 more
Copy number loss
Okur-Chung neurodevelopmental syndrome
GLikely pathogenic
C20orf96, CSNK2A1
+15 more
Copy number loss
not provided
GLikely pathogenic
TRIB3, ZCCHC3
+16 more
Copy number loss
See cases
GPathogenic
TBC1D20, RBCK1
+2 more
Copy number loss
not provided
GUncertain significance
ABHD12, ACSS1
+177 more
Copy number gain
not provided
GPathogenic
ANGPT4, C20orf202
+25 more
Copy number loss
not provided
GPathogenic
DEFB132, FAM110A
+34 more
Copy number loss
not provided
GPathogenic
ANGPT4, CSNK2A1
+10 more
Copy number gain
not provided
GUncertain significance
C20orf96, CSNK2A1
+12 more
Copy number loss
not provided
GUncertain significance
C20orf96, CSNK2A1
+12 more
Duplication
Neurodevelopmental disorder
GUncertain significance
ANGPT4, C20orf202
+33 more
Copy number loss
not provided
GLikely pathogenic
C20orf96, CSNK2A1
+13 more
Copy number loss
See cases
GUncertain significance
ADAM33, ADISSP
+104 more
Copy number gain
See cases
GLikely pathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+80 more
Copy number gain
See cases
GUncertain significance
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