List of variants in gene PTPN11 reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	rs121918468
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	rs397507540
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	rs397507542
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)	rs397507544
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	rs397507549
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	rs121918470
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)	rs397507505
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	rs397507509
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455

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