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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
(R152H +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+6 more
GBenign/Likely benign
ALPL
(E191K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GPathogenic/Likely pathogenic
ALPL
(Y263H +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign
ALPL
(F327L +2 more)
Single nucleotide variant
(missense variant)
ALPL-related condition
+5 more
GPathogenic/Likely pathogenic
ALPL
(G334D +2 more)
Single nucleotide variant
(missense variant)
ALPL-related condition
+6 more
GPathogenic/Likely pathogenic
ALPL
(D378V +2 more)
Single nucleotide variant
(missense variant)
ALPL-related condition
+5 more
GPathogenic
ALPL
(L443fs +2 more)
Deletion
(frameshift variant)
Hypophosphatasia
+3 more
GPathogenic
ALPL
(V522A +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
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