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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACP5, ANGPTL6
+536 more
Copy number gain
See cases
GLikely pathogenic
ANGPTL6, AP1M2
+184 more
Copy number loss
See cases
GPathogenic
AP1M2, ATG4D
+116 more
Copy number gain
See cases
GPathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
LOC130063636, LOC130063637
+434 more
Copy number loss
See cases
GPathogenic
AP1M2, ATG4D
+84 more
Copy number loss
See cases
GLikely pathogenic
ICAM3
(A128P +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ICAM3
(V116A +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ICAM3
(F115L +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ICAM3
(R173W +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ICAM3
(D338G +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ICAM3
(N286T +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ICAM3
(Q52R +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ICAM3
(C294S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ICAM3
(A212V +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(M268L +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(R137P +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(F111L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(P110S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(R86W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(L122P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(P40L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
Single nucleotide variant
(intron variant)
not provided
GBenign
ICAM3
(V113M +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(T112I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(N101S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(A75V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(I63V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ICAM3
(G47R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3
(C20R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ICAM3, LOC130063488
(S7Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
MIR199A1, ODAD3
+87 more
Copy number loss
not specified
GPathogenic
ACP5, ANGPTL6
+59 more
Copy number gain
not provided
GUncertain significance
CDKN2D, DNM2
+16 more
Copy number loss
not provided
GUncertain significance
A1BG, ABCA7
+1364 more
Copy number gain
See cases
GPathogenic
LILRA4, LILRA5
+1364 more
Copy number gain
See cases
GPathogenic
PRKCSH, PTGER1
+153 more
Copy number gain
See cases
GPathogenic
AP1M2, ICAM5
+27 more
Copy number loss
See cases
GPathogenic
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