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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
(A40V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypophosphatasia
+2 more
GPathogenic/Likely pathogenic
ALPL
Single nucleotide variant
(synonymous variant +1 more)
Adult hypophosphatasia
GUncertain significance
ALPL
(A114V +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GUncertain significance
ALPL
(T112M +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+2 more
GPathogenic/Likely pathogenic
ALPL
(T112K +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(E191K +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+8 more
GPathogenic/Likely pathogenic
ALPL
Single nucleotide variant
(splice acceptor variant)
Adult hypophosphatasia
GPathogenic
ALPL
(N417S +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ALPL
(Q367R +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+1 more
GConflicting classifications of pathogenicity
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