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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
ALPL
(R152H +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+6 more
GBenign/Likely benign
ALPL
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
ALPL
(E191K +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+8 more
GPathogenic/Likely pathogenic
ALPL
(G249V +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
ALPL
(Y263H +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+6 more
GBenign
ALPL
Single nucleotide variant
(intron variant)
Adult hypophosphatasia
+4 more
GBenign
ALPL
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
ALPL
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
ALPL
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
ALPL
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
ALPL
(V522A +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+5 more
GBenign
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