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Items: 1 to 100 of 569

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCSTN
(T115fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
IRF2BP2
(T378P +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 14
+1 more
GUncertain significance
LYST
(Y2519F)
Single nucleotide variant
(missense variant)
Chédiak-Higashi syndrome
GUncertain significance
LYST
(I1907V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NLRP3
(T954M +3 more)
Single nucleotide variant
(missense variant)
Cryopyrin associated periodic syndrome
+6 more
GConflicting classifications of pathogenicity
NFKB1
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 12
GLikely pathogenic
LRBA
Single nucleotide variant
(splice donor variant)
Combined immunodeficiency due to LRBA deficiency
GLikely pathogenic
OTULIN
(F117L)
Single nucleotide variant
(missense variant)
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
GUncertain significance
PSMB8
(G8R)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+3 more
GBenign/Likely benign
DOCK8
(R1263W +2 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
GUncertain significance
DOCK8
(M1453I +2 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
GUncertain significance
HPS5
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
LOC130057651, PSTPIP1
Single nucleotide variant
(5 prime UTR variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GBenign
LOC130057651, PSTPIP1
Microsatellite
(5 prime UTR variant +2 more)
not provided
+1 more
GBenign
LOC130057651, PSTPIP1
Microsatellite
(5 prime UTR variant +2 more)
not provided
+2 more
GBenign/Likely benign
LOC130057651, PSTPIP1
Single nucleotide variant
(5 prime UTR variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
LOC130057651, PSTPIP1
Microsatellite
(5 prime UTR variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(5 prime UTR variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GBenign
PSTPIP1
Single nucleotide variant
(5 prime UTR variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GBenign/Likely benign
PSTPIP1
(A25T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(G26S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(R27W)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GBenign
PSTPIP1, LOC130057652
+1 more
Duplication
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(M2T +1 more)
Single nucleotide variant
(missense variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+1 more
GConflicting classifications of pathogenicity
PSTPIP1
Single nucleotide variant
(synonymous variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(Q6R +1 more)
Single nucleotide variant
(missense variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(Q6L +1 more)
Single nucleotide variant
(missense variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(K73E +1 more)
Single nucleotide variant
(missense variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(A10V +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
PSTPIP1
(F11S +1 more)
Single nucleotide variant
(missense variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(W12S +1 more)
Single nucleotide variant
(missense variant +2 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
PSTPIP1
Duplication
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Deletion
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(C13G +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+3 more
GConflicting classifications of pathogenicity
PSTPIP1
(C13F +2 more)
Indel
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(C13W +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(R14K +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(T82I +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(T11P +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(T20M +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+1 more
GConflicting classifications of pathogenicity
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(G12E +2 more)
Indel
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
PSTPIP1
(L16P +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(R28W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PSTPIP1
(R93Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(L29P +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(G23S +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(L34V +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Deletion
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+1 more
GBenign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+1 more
GBenign
PSTPIP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Duplication
(intron variant)
not provided
+1 more
GBenign/Likely benign
PSTPIP1
Deletion
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GBenign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+1 more
GLikely benign
PSTPIP1
(A49V +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+1 more
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
PSTPIP1
Single nucleotide variant
(non-coding transcript variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(V49L +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(I51fs +2 more)
Deletion
(frameshift variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(A61T +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(A126S +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
(R127W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PSTPIP1
(R53Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
(T68M +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+2 more
GBenign/Likely benign
PSTPIP1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
PSTPIP1
(N62S +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(splice donor variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
+1 more
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
PSTPIP1
Single nucleotide variant
(intron variant)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GLikely benign
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