Related gene-specific medical variations for Gene (Select 84720) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064395	NM_032634.4(PIGO):c.1043T>C (p.Phe348Ser)	PIGO (F348S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2576032	NM_032634.4(PIGO):c.974C>A (p.Pro325His)	PIGO (P325H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575982	NM_032634.4(PIGO):c.2561G>A (p.Arg854His)	PIGO (R854H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434844	NM_032634.4(PIGO):c.1600G>A (p.Gly534Arg)	PIGO (G534R)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 931654	NM_032634.4(PIGO):c.1176_1186del (p.Glu392fs)	PIGO (E392fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely pathogenic
Select item 914859	NM_032634.4(PIGO):c.-308G>A	PIGO, PIGO-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 914363	NM_032634.4(PIGO):c.-115G>C	LOC130001694, PIGO	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 366764	NM_032634.4(PIGO):c.-213C>G	LOC130001694, PIGO +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign