"Baylor Genetics"[submitter] AND "PIGO"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032978	NM_032634.4(PIGO):c.3233C>T (p.Ser1078Phe)	PIGO (S661F +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 450953	NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)	PIGO (V879I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030045	NM_032634.4(PIGO):c.2363C>A (p.Thr788Asn)	PIGO (T788N)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 574404	NM_032634.4(PIGO):c.2191dup (p.Arg731fs)	PIGO (R731fs)	Duplication (frameshift variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 286126	NM_032634.4(PIGO):c.1810dup (p.Arg604fs)	PIGO (R604fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 473237	NM_032634.4(PIGO):c.794G>A (p.Arg265His)	PIGO (R265H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +195 more	Copy number gain	not provided	GPathogenic

ClinVar