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Items: 1 to 100 of 578

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
LOC129932493, LOC129932494
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
LOC129932930, LOC129932931
+967 more
Copy number gain
See cases
GPathogenic
LOC129932702, LOC129932703
+954 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+954 more
Copy number gain
See cases
GPathogenic
LOC129932675, LOC129932676
+952 more
Copy number gain
See cases
GPathogenic
ADSS2, AGT
+951 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+949 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+869 more
Copy number gain
See cases
GPathogenic
OR2T27, OR2T29
+655 more
Copy number gain
See cases
GPathogenic
LOC126806063, LOC126806064
+378 more
Copy number loss
See cases
GPathogenic
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
LOC129388781, LOC129932784
+123 more
Duplication
not specified
GUncertain significance
ARID4B, B3GALNT2
+162 more
Deletion
Immunodeficiency, common variable, 14
GPathogenic
ARID4B, COA6
+98 more
Copy number loss
See cases
GUncertain significance
IRF2BP2
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(S587fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
IRF2BP2
(R569fs +1 more)
Microsatellite
(frameshift variant)
Varicella, severe recurrent
GUncertain significance
IRF2BP2
(D570N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(A560V +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 14
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(P563L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(P547T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(N545I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(N561S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
IRF2BP2
(N561D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(V558E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(V542L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IRF2BP2
(V542L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(V558M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(S551N +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 14
GPathogenic
IRF2BP2
(C549R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(Y532* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
IRF2BP2
(Y532C +1 more)
Single nucleotide variant
(missense variant)
IRF2BP2-related condition
+1 more
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(V531fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
IRF2BP2
(V531I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(A527G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(Q541fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
IRF2BP2
(Q525* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
IRF2BP2
(Q540* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
IRF2BP2
(S521fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
IRF2BP2
(Q520* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 14
GUncertain significance
IRF2BP2
(Q520E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(R519K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
IRF2BP2
(S534C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(F529L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(P509S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(V519A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IRF2BP2
(V519L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(T491I +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 14
GUncertain significance
IRF2BP2
(C489G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IRF2BP2
(P487S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(A502S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(S485I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(T484A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
IRF2BP2
(S480C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(P478L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(V472L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(P487L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(G480D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(V458M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(P455A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
IRF2BP2
(M448V +1 more)
Single nucleotide variant
(missense variant)
IRF2BP2-related condition
+1 more
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(S460F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BP2
(P459L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(P443S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(P442L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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