"PreventionGenetics, part of Exact Sciences"[submitter] AND "PIGH"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1332855	NM_004569.5(PIGH):c.487C>T (p.Arg163Trp)	GPHN, PIGH (R162W +1 more)	Single nucleotide variant (missense variant)	PIGH-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2644333	NM_004569.5(PIGH):c.421T>C (p.Leu141=)	GPHN, PIGH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3056965	NM_004569.5(PIGH):c.276C>T (p.Ile92=)	GPHN, PIGH	Single nucleotide variant (synonymous variant)	PIGH-related condition	GBenign
Select item 2644334	NM_004569.5(PIGH):c.180+6G>A	GPHN, LOC130055900 +1 more	Single nucleotide variant (intron variant)	PIGH-related condition +1 more	GBenign
Select item 3045133	NM_004569.5(PIGH):c.165C>A (p.Leu55=)	GPHN, LOC130055900 +1 more	Single nucleotide variant (synonymous variant)	PIGH-related condition	GLikely benign
Select item 3039267	NM_004569.5(PIGH):c.141G>T (p.Thr47=)	GPHN, LOC130055900 +1 more	Single nucleotide variant (synonymous variant)	PIGH-related condition	GBenign
Select item 3038313	NM_004569.5(PIGH):c.72G>A (p.Pro24=)	GPHN, LOC130055900 +1 more	Single nucleotide variant (synonymous variant)	PIGH-related condition	GBenign

ClinVar