"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PIGV"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2192097	NM_017837.4(PIGV):c.324A>G (p.Leu108=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 297115	NM_017837.4(PIGV):c.348G>A (p.Leu116=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	PIGV-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2638548	NM_017837.4(PIGV):c.576T>C (p.Ser192=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 871134	NM_017837.4(PIGV):c.607C>T (p.Arg203Cys)	PIGV (R203C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 421662	NM_017837.4(PIGV):c.614A>G (p.Asn205Ser)	PIGV (N205S +1 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1334965	NM_017837.4(PIGV):c.644A>G (p.His215Arg)	PIGV (H215R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1334966	NM_017837.4(PIGV):c.1071G>A (p.Gly357=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1335030	GRCh37/hg19 1p36.11(chr1:27124054-27124335)x1	PIGV	Copy number loss	not provided	GUncertain significance

ClinVar