List of variants in gene PACS2 reported as uncertain significance for complex neurodevelopmental disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001100913.3(PACS2):c.1294C>T (p.Arg432Trp)	rs782447902	0.00003
NM_001100913.3(PACS2):c.2647G>A (p.Ala883Thr)	rs367840030	0.00003
NM_001100913.3(PACS2):c.1507T>C (p.Trp503Arg)	rs2081031883	0.00001
NM_001100913.3(PACS2):c.2263G>A (p.Val755Ile)	rs781913910	0.00001
NM_001100913.3(PACS2):c.827C>T (p.Ala276Val)	rs377732984	0.00001
NM_001100913.3(PACS2):c.1237A>G (p.Lys413Glu)
NM_001100913.3(PACS2):c.1351G>A (p.Ala451Thr)
NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn)	rs2081012243
NM_001100913.3(PACS2):c.1454T>A (p.Leu485His)
NM_001100913.3(PACS2):c.1541G>A (p.Arg514Lys)
NM_001100913.3(PACS2):c.1706G>A (p.Arg569Gln)
NM_001100913.3(PACS2):c.1873C>T (p.Leu625=)
NM_001100913.3(PACS2):c.1927C>T (p.Gln643Ter)
NM_001100913.3(PACS2):c.2098G>A (p.Glu700Lys)
NM_001100913.3(PACS2):c.2218T>A (p.Ser740Thr)	rs2081364319
NM_001100913.3(PACS2):c.2268del (p.Ala757fs)
NM_001100913.3(PACS2):c.2315C>G (p.Pro772Arg)	rs1555415243
NM_001100913.3(PACS2):c.2479A>C (p.Lys827Gln)
NM_001100913.3(PACS2):c.2626G>A (p.Val876Ile)
NM_001100913.3(PACS2):c.368A>C (p.Asn123Thr)
NM_001100913.3(PACS2):c.369C>A (p.Asn123Lys)	rs1435095726
NM_001100913.3(PACS2):c.371G>T (p.Arg124Ile)
NM_001100913.3(PACS2):c.622T>G (p.Ser208Ala)
NM_001100913.3(PACS2):c.643G>A (p.Asp215Asn)
NM_001100913.3(PACS2):c.986C>G (p.Ser329Trp)

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