"Baylor Genetics"[submitter] AND "PQBP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030959	NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser)	LOC130068256, PQBP1 (L11S)	Single nucleotide variant (missense variant)	Renpenning syndrome	GLikely pathogenic
Select item 561092	NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp)	PQBP1 (R181W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 545093	NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	PQBP1 (R196* +4 more)	Single nucleotide variant (nonsense)	PQBP1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 10982	NM_001032382.2(PQBP1):c.640dup (p.Arg214fs)	PQBP1 (R114fs +4 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1031571	NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln)	PQBP1 (R129Q +4 more)	Single nucleotide variant (missense variant)	Renpenning syndrome	GUncertain significance
Select item 590224	NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu)	PQBP1 (K262E +4 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +1 more	GUncertain significance
Select item 625640	GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	ARAF, CCDC120 +64 more	Copy number gain	not provided	GPathogenic

ClinVar