ClinVar for MedGen (Select 383800) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068561	NM_033419.5(PGAP3):c.43dup (p.Ala15fs)	PGAP3 (A15fs)	Duplication (frameshift variant)	Hyperphosphatasia-intellectual disability syndrome	GLikely pathogenic
Select item 666981	NM_032634.4(PIGO):c.2736dup (p.Pro913fs)	PIGO (P913fs +1 more)	Duplication (frameshift variant)	Hyperphosphatasia-intellectual disability syndrome	GLikely pathogenic
Select item 522896	NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp)	PIGO (R811W)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia-intellectual disability syndrome +2 more	GUncertain significance
Select item 368873	NM_017837.3(PIGV):c.-370G>A	PIGV	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 297132	NM_017837.4(PIGV):c.*518dup	PIGV	Duplication (3 prime UTR variant +1 more)	Hyperphosphatasia-intellectual disability syndrome	GUncertain significance
Select item 286126	NM_032634.4(PIGO):c.1810dup (p.Arg604fs)	PIGO (R604fs)	Duplication (frameshift variant +1 more)	Hyperphosphatasia-intellectual disability syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1284	NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)	PIGV (A341E +2 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +3 more	GPathogenic/Likely pathogenic

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