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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065401, LOC130065402
+348 more
Copy number gain
See cases
GPathogenic
LOC130065344, LOC130065345
+455 more
Copy number gain
See cases
GPathogenic
LOC129456123, LOC130065248
+833 more
Copy number gain
See cases
GPathogenic
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
ADAM33, ADISSP
+579 more
Copy number gain
See cases
GPathogenic
FASTKD5, FERMT1
+814 more
Copy number gain
See cases
GPathogenic
LOC130065324, LOC130065325
+581 more
Copy number gain
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC130065322, LOC130065323
+300 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+76 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+45 more
Copy number loss
See cases
GUncertain significance
ADAM33, ADISSP
+33 more
Copy number gain
See cases
GUncertain significance
CDC25B, LOC130065339
(P4S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(A63T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(A63S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(L14F +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
CDC25B
(M41V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CDC25B
(M109V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(E142K +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDC25B
(R134H +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDC25B, LOC125384565
(V148M +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDC25B, LOC125384565
(R100Q +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDC25B
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CDC25B
(G174S +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
CDC25B
(G43A +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(S197G +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(S171R +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(G62D +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(R191C +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(P260S +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(L126V +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B, LOC126862955
(L206F +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B, LOC126862955
(V314M +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B, LOC126862955
(R138W +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B, LOC126862955
(K142R +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B, LOC126862955
(P233L +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B, LOC126862955
(V201M +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B, LOC126862955
(R216H +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B, LOC126862955
(S323N +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(S278R +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(I329V +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(R463G +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(D318N +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(R376W +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(R477Q +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(R417Q +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25B
(R493W +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAM33, ADISSP
+36 more
Duplication
not provided
GUncertain significance
DNAAF9, FERMT1
+35 more
Deletion
Inosine triphosphatase deficiency
GPathogenic
OXT, PANK2
+33 more
Copy number gain
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
MAVS, OXT
+36 more
Copy number loss
See cases
GLikely pathogenic
ADAM33, ADISSP
+19 more
Deletion
not provided
GPathogenic
CDS2, CENPB
+60 more
Duplication
Pigmentary pallidal degeneration
+1 more
GUncertain significance
SPEF1, UBOX5
+26 more
Copy number gain
See cases
GUncertain significance
ADAM33, ADRA1D
+47 more
Copy number loss
20p12.3 microdeletion syndrome
GPathogenic
ADAM33, ADISSP
+14 more
Duplication
Inosine triphosphatase deficiency
GUncertain significance
FASTKD5, CDC25B
+20 more
Copy number gain
not provided
GUncertain significance
CDC25B, ADAM33
+25 more
Copy number gain
not provided
GUncertain significance
OXT, LZTS3
+26 more
Copy number gain
not provided
GUncertain significance
CDC25B, AVP
+26 more
Copy number loss
not provided
GUncertain significance
ABHD12, ACSS1
+177 more
Copy number gain
not provided
GPathogenic
ADAM33, C20orf27
+5 more
Copy number gain
not provided
GUncertain significance
FERMT1, SPTLC3
+62 more
Copy number loss
not provided
GPathogenic
ADAM33, ADISSP
+58 more
Copy number loss
See cases
GPathogenic
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
+26 more
Copy number loss
See cases
GUncertain significance
ADAM33, ADISSP
+80 more
Copy number gain
See cases
GUncertain significance
ESF1, FAM110A
+178 more
Copy number gain
not provided
GPathogenic
ABHD12, ACSS1
+176 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+85 more
Copy number gain
See cases
GPathogenic
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