"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ALPL"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197677	NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)	ALPL (E146K +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +3 more	GConflicting classifications of pathogenicity
Select item 13670	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL (E191K +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +8 more	GPathogenic/Likely pathogenic
Select item 3034573	NM_000478.6(ALPL):c.717C>A (p.Asp239Glu)	ALPL (D162E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13664	NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	ALPL (D294A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +6 more	GPathogenic
Select item 189102	NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)	ALPL (Y297* +2 more)	Single nucleotide variant (nonsense)	Infantile hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 550626	NM_000478.6(ALPL):c.1172G>A (p.Arg391His)	ALPL (R391H +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic

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