C0410528[trait identifier] AND "Center for Personalized Medicine, Chil - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370095	NM_000478.6(ALPL):c.46_49del (p.Asn16fs)	ALPL (N16fs)	Deletion (intron variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 493003	NM_000478.6(ALPL):c.360_361del (p.Val121fs)	ALPL (V121fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +2 more	GPathogenic
Select item 167818	NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)	VANGL1 (R175W +1 more)	Single nucleotide variant (missense variant)	Sacral defect with anterior meningocele +18 more	GConflicting classifications of pathogenicity
Select item 400	NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	INPP5E (R378C)	Single nucleotide variant (missense variant)	Skeletal dysplasia +20 more	GPathogenic/Likely pathogenic
Select item 252670	NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys)	TNNT3 (R223C +8 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 492999	NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp)	COL2A1 (G861D +1 more)	Single nucleotide variant (missense variant)	Skeletal dysplasia	GPathogenic
Select item 5302	NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	TNFRSF13B (C104R)	Single nucleotide variant (missense variant)	TNFRSF13B-related condition +23 more	GConflicting classifications of pathogenicity; risk factor

ClinVar