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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
(A33V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ALPL
(A116T +2 more)
Single nucleotide variant
(missense variant)
ALPL-related condition
+4 more
GPathogenic/Likely pathogenic
ALPL
(R136H +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(G162V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPL
(A176T +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+6 more
GPathogenic/Likely pathogenic
ALPL
(A179T +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+4 more
GPathogenic/Likely pathogenic
ALPL
(E191K +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+8 more
GPathogenic/Likely pathogenic
ALPL
(G249V +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
ALPL
(R272C +2 more)
Single nucleotide variant
(missense variant)
ALPL-related condition
+3 more
GPathogenic
ALPL
(D294A +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
ALPL
(E298K +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(F327L +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(G334D +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
ALPL
(D378V +2 more)
Single nucleotide variant
(missense variant)
Hypophosphatasia
+5 more
GPathogenic
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