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Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
(N16fs)
Deletion
(frameshift variant +1 more)
Hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(E21K)
Single nucleotide variant
(missense variant +1 more)
Infantile hypophosphatasia
GUncertain significance
ALPL
Single nucleotide variant
(splice donor variant +1 more)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(W29*)
Single nucleotide variant
(nonsense +1 more)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(R30*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ALPL
(K38fs)
Deletion
(frameshift variant +1 more)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(F5fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ALPL
(Q44*)
Single nucleotide variant
(nonsense +2 more)
Hypophosphatasia
+2 more
GPathogenic/Likely pathogenic
ALPL
(T11M)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GLikely benign
ALPL
(I55del +2 more)
Microsatellite
(inframe_deletion +1 more)
Infantile hypophosphatasia
+3 more
GUncertain significance
ALPL
(W20*)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
ALPL
Duplication
(intron variant)
Infantile hypophosphatasia
+1 more
GPathogenic/Likely pathogenic
ALPL
(R71C +1 more)
Single nucleotide variant
(missense variant +1 more)
Infantile hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(I72T +1 more)
Single nucleotide variant
(missense variant +1 more)
Adult hypophosphatasia
+2 more
GPathogenic/Likely pathogenic
ALPL
(L77fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
(E88K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ALPL
Single nucleotide variant
(splice donor variant +1 more)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(Q106H +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+3 more
GConflicting classifications of pathogenicity
ALPL
(G112S +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+1 more
GPathogenic/Likely pathogenic
ALPL
(A116T +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ALPL
(A123D +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ALPL
(S131fs +2 more)
Deletion
(frameshift variant)
Infantile hypophosphatasia
+1 more
GPathogenic/Likely pathogenic
ALPL
(T134H +2 more)
Indel
(missense variant)
Infantile hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
ALPL
(R136P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPL
(R136H +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(T141N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
(Q66fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
(G162V +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+1 more
GConflicting classifications of pathogenicity
ALPL
(T166I +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
GUncertain significance
ALPL
(S120fs +2 more)
Deletion
(frameshift variant)
Hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(A176T +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
ALPL
(A177T +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+5 more
GConflicting classifications of pathogenicity
ALPL
(A179T +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
ALPL
(S181L +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(R184W +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(H210R +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+1 more
GConflicting classifications of pathogenicity
ALPL
Single nucleotide variant
(intron variant)
Infantile hypophosphatasia
+1 more
GConflicting classifications of pathogenicity
ALPL
Indel
(inframe_indel)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
(G167fs +2 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(G220R +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+2 more
GConflicting classifications of pathogenicity
ALPL
(G221R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(R223W +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(R223Q +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+3 more
GPathogenic
ALPL
(K224E +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+1 more
GConflicting classifications of pathogenicity
ALPL
(G249V +2 more)
Single nucleotide variant
(missense variant)
ALPL-related disorder
+4 more
GPathogenic
ALPL
(K264R +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ALPL
(W270* +2 more)
Single nucleotide variant
(nonsense)
Hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(R272H +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(H204fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
Single nucleotide variant
(splice donor variant)
Adult hypophosphatasia
+1 more
GPathogenic/Likely pathogenic
ALPL
(E291K +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+1 more
GPathogenic/Likely pathogenic
ALPL
(D294Y +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
GUncertain significance
ALPL
(Y297* +2 more)
Single nucleotide variant
(nonsense)
Infantile hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(N225fs +2 more)
Deletion
(frameshift variant)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(S233fs +2 more)
Microsatellite
(frameshift variant)
Infantile hypophosphatasia
+2 more
GPathogenic/Likely pathogenic
ALPL
(K245fs +2 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
ALPL
Single nucleotide variant
(intron variant)
Infantile hypophosphatasia
GUncertain significance
ALPL
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
ALPL
(G334D +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(D337G +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+4 more
GConflicting classifications of pathogenicity
ALPL
(H340fs +2 more)
Duplication
(frameshift variant)
Adult hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(Q347* +2 more)
Single nucleotide variant
(nonsense)
Infantile hypophosphatasia
+2 more
GPathogenic/Likely pathogenic
ALPL
(A348T +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+3 more
GConflicting classifications of pathogenicity
ALPL
(E354D +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+1 more
GUncertain significance
ALPL
(S364fs +2 more)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(L372fs +2 more)
Microsatellite
(frameshift variant)
Adult hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(D378H +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+2 more
GPathogenic/Likely pathogenic
ALPL
(D378V +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+4 more
GPathogenic
ALPL
(V382I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
(R336fs +2 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALPL
(R391C +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+6 more
GPathogenic/Likely pathogenic
ALPL
(R391H +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+2 more
GPathogenic
ALPL
Deletion
(inframe_deletion)
Infantile hypophosphatasia
GUncertain significance
ALPL
(S317fs +2 more)
Microsatellite
(frameshift variant)
Hypophosphatasia
+3 more
GLikely pathogenic
ALPL
Single nucleotide variant
(intron variant)
Infantile hypophosphatasia
+2 more
GBenign/Likely benign
ALPL
(D351fs +2 more)
Deletion
(frameshift variant)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(N417S +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ALPL
(E429K +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+1 more
GConflicting classifications of pathogenicity
ALPL
(Q442* +2 more)
Single nucleotide variant
(nonsense)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(S445P +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+2 more
GConflicting classifications of pathogenicity
ALPL
(R450H +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
ALPL
(G455S +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
ALPL
(V459L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPL
(V459M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ALPL
(E476* +2 more)
Single nucleotide variant
(nonsense)
Adult hypophosphatasia
+1 more
GLikely pathogenic
ALPL
(A487V +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ALPL
(G491R +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
ALPL
(L512fs +2 more)
Deletion
(frameshift variant)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
(A514T +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+4 more
GUncertain significance
ALPL
(Y441fs +2 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(L520fs +2 more)
Deletion
(frameshift variant)
Infantile hypophosphatasia
GLikely pathogenic
ALPL
Deletion
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ALPL
Single nucleotide variant
(stop lost)
Infantile hypophosphatasia
GUncertain significance
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