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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta
+1 more
GConflicting classifications of pathogenicity
ALPL
(Q76R +1 more)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta
+2 more
GPathogenic/Likely pathogenic
ALPL
(V95M +1 more)
Single nucleotide variant
(missense variant +1 more)
Childhood hypophosphatasia
+4 more
GConflicting classifications of pathogenicity
ALPL
(R136H +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(R75C +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+4 more
GConflicting classifications of pathogenicity
ALPL
(R152H +2 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+6 more
GBenign/Likely benign
ALPL
(A176T +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
ALPL
(R184W +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(E191K +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+8 more
GPathogenic/Likely pathogenic
ALPL
(M149T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPL
(Y263H +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+6 more
GBenign
ALPL
(R272H +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ALPL
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ALPL
(D294A +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+6 more
GPathogenic
ALPL
(V227M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPL
(F251del +2 more)
Microsatellite
(inframe_deletion)
Osteogenesis imperfecta
+4 more
GPathogenic/Likely pathogenic
ALPL
(F272C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(G334D +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(R280Q +2 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+1 more
GUncertain significance
ALPL
(S312F +2 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+1 more
GConflicting classifications of pathogenicity
ALPL
(S291L +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+2 more
GUncertain significance
ALPL
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta
+2 more
GBenign/Likely benign
ALPL
(R391C +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+6 more
GPathogenic/Likely pathogenic
ALPL
(T334I +2 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
GUncertain significance
ALPL
(V461I +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
ALPL
(S502L +2 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+4 more
GConflicting classifications of pathogenicity
ALPL
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ALPL
Deletion
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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