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Items: 1 to 100 of 223

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
CXCR2
Single nucleotide variant
(intron variant)
not provided
GBenign
CXCR2
(M6R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CXCR2
(M6I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CXCR2
(F11S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(D13H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(W15R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(S21R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(Y23D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CXCR2
(P31H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(F32V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(A37T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(P38S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(E40G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(N47S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(Y49C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(F50L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(Y55F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(V58I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CXCR2
(S62N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(L64M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(L74S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(Y75H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(S76R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCR2
(V78I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(G79S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
CXCR2
(R80C)
Single nucleotide variant
(missense variant)
not provided
GBenign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(V82I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(A91T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(A91V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(D94G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(I103fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(A106T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(W112R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(W112C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CXCR2
(N129S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(S132R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Inversion
(synonymous variant)
not provided
GUncertain significance
CXCR2
(C139Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCR2
(R144C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(R144H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(R153C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(R153P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCR2
(R153H)
Single nucleotide variant
(missense variant)
CXCR2-related disorder
+1 more
GConflicting classifications of pathogenicity
CXCR2
(T154I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(K158*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
CXCR2
(R159C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(R159H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(R159L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(L161W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(K163I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(G171D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
(L175H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(A177T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CXCR2
(R184*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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