ClinVar for MedGen (Select 10031) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707479	NM_000478.6(ALPL):c.648+5G>C	ALPL	Single nucleotide variant (intron variant)	Micromelia	GUncertain significance
Select item 1076160	NM_000478.6(ALPL):c.532T>C (p.Tyr178His)	ALPL (Y101H +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic