"Blueprint Genetics"[submitter] AND "ALPL"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521379	NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	ALPL (R184W +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 556859	NM_000478.6(ALPL):c.629A>G (p.His210Arg)	ALPL (H210R +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 1224381	NM_000478.6(ALPL):c.657G>T (p.Met219Ile)	ALPL (M142I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 13673	NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	ALPL (F327L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 13672	NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	ALPL (G334D +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 1224321	NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)	ALPL (T312N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic

ClinVar