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Items: 1 to 100 of 311

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACP5, ANGPTL6
+536 more
Copy number gain
See cases
GLikely pathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
LOC130063636, LOC130063637
+434 more
Copy number loss
See cases
GPathogenic
LOC130064390, LOC130064391
+2135 more
Copy number gain
See cases
GPathogenic
ACP5, BEST2
+261 more
Copy number loss
See cases
GPathogenic
BEST2, BRME1
+355 more
Copy number loss
See cases
GPathogenic
ACP5
Single nucleotide variant
(stop lost)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(P325S)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(R324K)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(R324M)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(R324G)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(R322Q)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(R322G)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(R322*)
Single nucleotide variant
(nonsense)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(P320L)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GBenign
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(T317S)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(T317A)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(E308K)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(I307M)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(I307N)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(I307F)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(T305I)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(E301G)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(V295M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACP5
(G291D)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(G291R)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GBenign
ACP5
(D287A)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
+1 more
GBenign
ACP5
(T285I)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(G284E)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(Y283C)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(H282Q)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(R280H)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(R280C)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(Y278del)
Deletion
(inframe_deletion)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(Y278H)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(G277S)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(P275L)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(K273fs)
Duplication
(frameshift variant)
Spondyloenchondrodysplasia with immune dysregulation
GPathogenic
ACP5
(R272H)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(R272C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(R269Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACP5
(R269W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACP5
(K268N)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(K268E)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(S267fs)
Deletion
(frameshift variant)
Spondyloenchondrodysplasia with immune dysregulation
GPathogenic
ACP5
(D265G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACP5
(M264K)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely pathogenic
ACP5
(S258fs)
Deletion
(frameshift variant)
Spondyloenchondrodysplasia with immune dysregulation
GPathogenic/Likely pathogenic
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(G261W)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(G259R)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(S258R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACP5
(V256M)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(V256L)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(V253A)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(V253M)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(G252D)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
(Q248R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(Y246*)
Single nucleotide variant
(nonsense)
Spondyloenchondrodysplasia with immune dysregulation
+1 more
GPathogenic/Likely pathogenic
ACP5
Single nucleotide variant
(splice acceptor variant)
Spondyloenchondrodysplasia with immune dysregulation
GPathogenic
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(intron variant)
not provided
GBenign
ACP5
Single nucleotide variant
(intron variant)
not provided
GBenign
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Deletion
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Single nucleotide variant
(intron variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(Q245*)
Single nucleotide variant
(nonsense)
Spondyloenchondrodysplasia with immune dysregulation
GPathogenic
ACP5
(L244P)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(D241N)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GPathogenic
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
Deletion
(inframe_deletion)
Spondyloenchondrodysplasia with immune dysregulation
GPathogenic
ACP5
(G239S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACP5
Single nucleotide variant
(synonymous variant)
Spondyloenchondrodysplasia with immune dysregulation
GLikely benign
ACP5
(C238R)
Single nucleotide variant
(missense variant)
Spondyloenchondrodysplasia with immune dysregulation
GPathogenic
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