C0268413[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188798	NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	ALPL (S181L +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 930907	NM_000478.6(ALPL):c.568_570del (p.Asn190del)	ALPL (N135del +2 more)	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 931472	NM_000478.6(ALPL):c.571G>T (p.Glu191Ter)	ALPL (E114* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia	GPathogenic
Select item 930227	NM_000478.6(ALPL):c.997+2T>A	ALPL	Single nucleotide variant (splice donor variant)	Hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 632629	NM_000478.6(ALPL):c.1182dup (p.Ile395fs)	ALPL (I318fs +2 more)	Duplication (frameshift variant)	Hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 930908	NM_000478.6(ALPL):c.1400T>C (p.Met467Thr)	ALPL (M390T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar