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Items: 1 to 100 of 655

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1326 more
Copy number gain
See cases
GPathogenic
LOC129932855, LOC129932856
+1168 more
Copy number gain
See cases
GPathogenic
TARBP1, TBCE
+968 more
Copy number gain
See cases
GPathogenic
LINC02765, LINC02768
+955 more
Copy number gain
See cases
GPathogenic
LOC440742, LYPD8
+955 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+953 more
Copy number gain
See cases
GPathogenic
LOC129932825, LOC129932826
+952 more
Copy number gain
See cases
GPathogenic
LOC129932658, LOC129932659
+950 more
Copy number gain
See cases
GPathogenic
LOC126806053, LOC126806054
+870 more
Copy number gain
See cases
GPathogenic
ABCB10, ACTA1
+656 more
Copy number gain
See cases
GPathogenic
ACTN2, AGT
+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
(I558F +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
(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
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)
not provided
+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
(C539W +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)
not provided
+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
(A527T +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
(C514R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
(V508I +1 more)
Single nucleotide variant
(missense variant)
not specified
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)
not specified
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
(R496Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(R512W +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
(H494R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
Duplication
(inframe_insertion)
not provided
GUncertain significance
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
+1 more
GUncertain significance
IRF2BP2
(S485I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
(T484A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IRF2BP2
(S480C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IRF2BP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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
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
(P471S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
IRF2BP2
(G480D +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
IRF2BP2
(V458M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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