Related gene-specific medical variations for Gene (Select 93210) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362648	NM_033419.5(PGAP3):c.181+1G>T	PGAP3	Single nucleotide variant (splice donor variant)	Hyperphosphatasia with intellectual disability syndrome 4	GLikely pathogenic
Select item 3243214	NC_000017.10:g.(?_37842155)_(37844267_?)del	PGAP3	Deletion	not provided	GPathogenic
Select item 3243213	NC_000017.10:g.(?_37840830)_(37841022_?)del	PGAP3	Deletion	not provided	GPathogenic
Select item 1323441	NM_033419.5(PGAP3):c.455G>A (p.Trp152Ter)	PGAP3 (W101* +1 more)	Single nucleotide variant (nonsense +1 more)	Hyperphosphatasia with intellectual disability syndrome 4	GPathogenic
Select item 1282412	NM_033419.5(PGAP3):c.433-103T>C	LOC110121446, PGAP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186906	NM_033419.5(PGAP3):c.433-41A>G	LOC110121446, PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 522978	NM_033419.5(PGAP3):c.432+1G>A	PGAP3	Single nucleotide variant (intron variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 4	GPathogenic
Select item 496676	NM_033419.5(PGAP3):c.280del (p.Trp94fs)	PGAP3 (W94fs)	Deletion (frameshift variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 4	GPathogenic
Select item 377024	NM_033419.5(PGAP3):c.32del (p.Leu11fs)	PGAP3 (L11fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

ClinVar