"PIGV-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297114	NM_017837.4(PIGV):c.101C>T (p.Pro34Leu)	PIGV (P34L)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1 +3 more	GBenign/Likely benign
Select item 1700521	NM_017837.4(PIGV):c.146C>A (p.Ser49Ter)	PIGV (S49*)	Single nucleotide variant (nonsense +3 more)	PIGV-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 297115	NM_017837.4(PIGV):c.348G>A (p.Leu116=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 297116	NM_017837.4(PIGV):c.349A>G (p.Ile117Val)	PIGV (I117V)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 512944	NM_017837.4(PIGV):c.684G>A (p.Leu228=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	PIGV-related disorder +1 more	GLikely benign
Select item 507450	NM_017837.4(PIGV):c.809G>A (p.Arg270His)	PIGV (R270H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity

ClinVar