"Genetic Services Laboratory, University of Chicago"[submitter] AND "P - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95309	NM_001032382.2(PQBP1):c.180-3C>T	PQBP1	Single nucleotide variant (intron variant)	History of neurodevelopmental disorder +3 more	GBenign
Select item 211955	NM_001032382.2(PQBP1):c.288T>C (p.Asn96=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 284597	NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])	PQBP1	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 436409	NM_001032382.2(PQBP1):c.489C>T (p.Arg163=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1185890	NM_001032382.2(PQBP1):c.510G>A (p.Arg170=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 95308	NM_001032382.2(PQBP1):c.*6C>T	PQBP1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity

ClinVar