Unique variants in the PTPN11 gene

Information The variants shown are described using the NM_002834.3 transcript reference sequence.

150 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

CpG     

Enzyme activity     

mRNA level     

Protein level     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/+? 1 A0232 - amino acid substitution (VariO:0021) - - c.417G>? r.(?) p.(Glu139Asp) SH2_2 - - - - - likely pathogenic g.112891083G>? - - - PTPN11_000048 - PubMed: Karow et al. (2007) - - Germline - - - - - Gerard C.P. Schaafsma
+/. 2 - - - - - c.5C>T r.(?) p.(Thr2Ile) - - - - - - pathogenic g.112856920C>T g.112419116C>T - - PTPN11_000125 VKGL data sharing initiative Nederland - - rs267606990 CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, MobiDetails
?/. 1 - - - - - c.28A>G r.(?) p.(Asn10Asp) - - - - - - VUS g.112884093A>G g.112446289A>G - - PTPN11_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - - - - - c.29A>G r.(?) p.(Asn10Ser) - - - - - - VUS g.112884094A>G - - - PTPN11_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - - - - - c.48A>G r.(?) p.(Ala16=) - - - - - - likely benign g.112884113A>G g.112446309A>G PTPN11(NM_002834.3):c.48A>G (p.A16=) - PTPN11_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/+? 6 A0001, A0002, A0003, A0004, A0005 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 2 c.124A>G r.(?) p.(Thr42Ala) SH2_1 - - - - - likely pathogenic, pathogenic g.112884189A>G g.112446385A>G - - PTPN11_000046 VKGL data sharing initiative Nederland PubMed: Sarkozy, A et al. (2003), PubMed: Tartaglia, M et al. (2002), PubMed: Zenker, M et al. (2004) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
-?/. 1 - - - - - c.156C>T r.(?) p.(Thr52=) - - - - - - likely benign g.112888140C>T g.112450336C>T - - PTPN11_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/., ?/. 4 - DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.166A>G r.(?) p.(Ile56Val) SH2 - - - - - likely pathogenic, pathogenic, VUS g.112888150A>G g.112450346A>G PTPN11(NM_002834.3):c.166A>G (p.I56V) - PTPN11_000013 one parent carried the same variant, VKGL data sharing initiative Nederland PubMed: Atik 2016 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Jelena Čalyševa, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - - - - - c.172A>C r.(?) p.(Asn58His) - - - - - - pathogenic g.112888156A>C g.112450352A>C - - PTPN11_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/+? 2 A0006 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.172A>G r.(?) p.(Asn58Asp) SH2_1 - - - - - likely pathogenic, pathogenic g.112888156A>G g.112450352A>G - - PTPN11_000040 VKGL data sharing initiative Nederland PubMed: Zenker, M et al. (2004) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
+?/+? 1 A0008 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.172A>T r.(?) p.(Asn58Tyr) SH2_1 - - - - - likely pathogenic g.112888156A>T g.112450352A>T - - PTPN11_000041 - PubMed: Tartaglia, M et al. (2004) - - Unknown - - - - - Gerard C.P. Schaafsma
?/. 2 - - - - - c.173A>G r.(?) p.(Asn58Ser) - - - - - - VUS g.112888157A>G g.112450353A>G PTPN11(NM_002834.3):c.173A>G (p.N58S) - PTPN11_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+/. 1 - - - - - c.174C>A r.(?) p.(Asn58Lys) - - - - - - pathogenic g.112888158C>A g.112450354C>A - - PTPN11_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/+?, ?/. 3 A0007 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.174C>G r.(?) p.(Asn58Lys) SH2_1 - - - - - likely pathogenic, pathogenic, VUS g.112888158C>G g.112450354C>G PTPN11(NM_002834.3):c.174C>G (p.(Asn58Lys)) - PTPN11_000042 VKGL data sharing initiative Nederland PubMed: Musante, L et al. (2003) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 2 - DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.175A>G r.(?) p.(Thr59Ala) SH2 - - - - - VUS g.112888159A>G g.112450355A>G - - PTPN11_000010 - PubMed: Ko 2008 - - De novo, Germline ? - - - - Johan den Dunnen, Jelena Čalyševa
?/. 1 - - - - - c.178G>A r.(?) p.(Gly60Ser) - - - - - - VUS g.112888162G>A g.112450358G>A - - PTPN11_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 A0024 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.178G>C r.(?) p.(Gly60Arg) SH2_1 - - - - - likely pathogenic g.112888162G>C g.112450358G>C - - PTPN11_000043 - PubMed: Loh, M. L et al. (2004) - - Unknown - - - - - Gerard C.P. Schaafsma
+/., +?/+?, +?/. 5 A0010, A0011, A0012 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>C r.(?) p.(Gly60Ala) SH2_1 - - - - - likely pathogenic, pathogenic g.112888163G>C g.112450359G>C PTPN11(NM_002834.3):c.179G>C (p.G60A) - PTPN11_000045 VKGL data sharing initiative Nederland PubMed: Roti, G et al. (2006), PubMed: Tartaglia, M et al. (2002) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/., +?/+? 12 A0013, A0014, A0015, A0016, A0017, A0018, A0019, A0020, A0021, A0022, A0023 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic, pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 VKGL data sharing initiative Nederland PubMed: Kratz, C. P et al. (2005), PubMed: Tartaglia, M et al. (2003), 1 more item - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
+/., +?/+?, +?/. 6 A0059, A0060, A0061 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.181G>A r.(?) p.(Asp61Asn) SH2_1 - - - - - likely pathogenic, pathogenic g.112888165G>A g.112450361G>A PTPN11(NM_002834.3):c.181G>A (p.D61N) - PTPN11_000006 VKGL data sharing initiative Nederland PubMed: Joyce 2016, PubMed: Loh, M. L et al. (2004), PubMed: Musante, L et al. (2003), 1 more item - rs397507510 CLASSIFICATION record, Unknown ? - - - - Gerard C.P. Schaafsma, Pia Ostergaard, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - - - - - c.181G>C r.(?) p.(Asp61His) - - - - - - pathogenic g.112888165G>C g.112450361G>C - - PTPN11_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 16 A0046, A0047, A0048, A0049, A0050, A0051, A0052, A0053, A0054, A0055, A0056, A0057, A0058, A0228, 2 more items transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.181G>T r.(?) p.(Asp61Tyr) SH2_1 - - - - - likely pathogenic g.112888165G>T g.112450361G>T - - PTPN11_000034 - PubMed: Flotho, C et al. (2007), PubMed: Kratz, C. P et al. (2005), PubMed: Loh, M. L et al. (2004), 2 more items - - Unknown - - - - - Gerard C.P. Schaafsma
?/. 2 - transversion (VariO:0316) amino acid substitution (VariO:0021) - - c.182A>C r.(?) p.(Asp61Ala) SH2 - - - - - VUS g.112888166A>C g.112450362A>C - - PTPN11_000011 - PubMed: Chen 2009 - - Germline - - - - - Johan den Dunnen, Jelena Čalyševa
+/., +?/+?, +?/. 16 A0025, A0026, A0027, A0028, A0029, A0030, A0031, A0032, A0033, A0034, A0035 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.182A>G r.(?) p.(Asp61Gly) SH2_1 - - - - - likely pathogenic, pathogenic, pathogenic (dominant) g.112888166A>G g.112450362A>G PTPN11(NM_002834.3):c.182A>G (p.D61G) - PTPN11_000005 VKGL data sharing initiative Nederland PubMed: Joyce 2016, PubMed: Kosaki, K et al. (2002), PubMed: Kratz, C. P et al. (2005), 6 more items - rs121918461 CLASSIFICATION record, De novo, Unknown - - - - - Gerard C.P. Schaafsma, Johan den Dunnen, Pia Ostergaard, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Simin Zheng
+?/+? 11 A0036, A0037, A0038, A0039, A0040, A0041, A0042, A0043, A0044, A0045, A0238 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.182A>T r.(?) p.(Asp61Val) SH2_1 - - - - - likely pathogenic g.112888166A>T g.112450362A>T - - PTPN11_000035 - PubMed: Chen, Y et al. (2006), PubMed: Kratz, C. P et al. (2005), PubMed: Paulsson, K et al. (2008), 2 more items - - Unknown - - - - - Gerard C.P. Schaafsma
+/., +?/+?, ./. 11 A0062, A0063, A0064, A0065, A0066, A0067, A0068, A0069, A0070 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.184T>G r.(?) p.(Tyr62Asp) SH2_1 - - - - - likely pathogenic, pathogenic g.112888168T>G g.112450364T>G - - PTPN11_000009 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Maheshwari, M et al. (2002), 4 more items - - CLASSIFICATION record, De novo, Unknown - - - - - Gerard C.P. Schaafsma, Johan den Dunnen, VKGL-NL_Nijmegen
+/., +?/+?, +?/. 25 A0071, A0072, A0073, A0074, A0075, A0076, A0077, A0078, A0079, A0080, A0081, A0082, A0083, A0084, 6 more items DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.188A>G r.(?) p.(Tyr63Cys) SH2_1 - - - - ACMG likely pathogenic, pathogenic, pathogenic (dominant) g.112888172A>G g.112450368A>G PTPN11(NM_002834.3):c.188A>G (p.Y63C) - PTPN11_000004 ACMG PS3, PM1, PM2, PP2, PP3, PP5, VKGL data sharing initiative Nederland PubMed: Becker, K et al. (2007), PubMed: Joyce 2016, PubMed: Kosaki, K et al. (2002), 7 more items - rs121918459 CLASSIFICATION record, Germline/De novo (untested), Unknown ? - - - - Gerard C.P. Schaafsma, Pia Ostergaard, Jan Traeger-Synodinos, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, MobiDetails
+?/+? 10 A0089, A0090, A0091, A0092, A0093, A0094, A0095, A0096, A0235, A0251 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.205G>A r.(?) p.(Glu69Lys) SH2_1 - - - - - likely pathogenic g.112888189G>A g.112450385G>A - - PTPN11_000036 - PubMed: Hou, H. A et al. (2007), PubMed: Loh, M. L et al. (2004), PubMed: Paulsson, K et al. (2008), 3 more items - - Unknown - - - - - Gerard C.P. Schaafsma
+/., +?/+? 3 A0097, A0098 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.205G>C r.(?) p.(Glu69Gln) SH2_1 - - - - - likely pathogenic, pathogenic g.112888189G>C g.112450385G>C - - PTPN11_000037 VKGL data sharing initiative Nederland PubMed: Musante, L et al. (2003), PubMed: Zenker, M et al. (2004) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
+/., +?/+? 3 A0240 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 3 c.211T>C r.(?) p.(Phe71Leu) SH2_1 - - - - - likely pathogenic, pathogenic g.112888195T>C g.112450391T>C PTPN11(NM_002834.3):c.211T>C (p.(Phe71Leu)) - PTPN11_000038 VKGL data sharing initiative Nederland PubMed: Hou, H. A et al. (2007) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/? 1 A0099 DNA insertion (VariO:0142) amino acid substitution (VariO:0021) - - c.211_213inv r.(?) p.(Phe71Lys) SH2_1 - - - - - VUS g.112888195_112888197inv g.112450391_112450393inv 211-213TTT>AAA - PTPN11_000039 - PubMed: Tartaglia et al. (2003) - - De novo - - - - - Gerard C.P. Schaafsma
+?/+? 1 A0100 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.213T>A r.(?) p.(Phe71Leu) SH2_1 - - - - - likely pathogenic g.112888197T>A g.112450393T>A - - PTPN11_000031 - PubMed: Tartaglia, M et al. (2003) - - Unknown - - - - - Gerard C.P. Schaafsma
+?/. 1 - - - - - c.213T>G r.(?) p.(Phe71Leu) - - - - - - likely pathogenic g.112888197T>G g.112450393T>G - - PTPN11_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/+?, +?/. 19 A0110, A0111, A0112, A0113, A0114, A0115, A0116, A0117, A0118, A0119, A0120, A0224, A0225, A0227, 3 more items DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.214G>A r.(?) p.(Ala72Thr) SH2_1 - - - - - likely pathogenic, pathogenic g.112888198G>A g.112450394G>A PTPN11(NM_002834.3):c.214G>A (p.A72T) - PTPN11_000032 VKGL data sharing initiative Nederland PubMed: Chen, Y et al. (2006), PubMed: Christiansen, D. H et al. (2007), 6 more items - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - - - - - c.214G>C r.(?) p.(Ala72Pro) - - - - - - pathogenic g.112888198G>C g.112450394G>C - - PTPN11_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/+? 4 A0108, A0109 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.214G>T r.(?) p.(Ala72Ser) SH2_1 - - - - - likely pathogenic, pathogenic g.112888198G>T g.112450394G>T PTPN11(NM_002834.3):c.214G>T (p.(Ala72Ser)) - PTPN11_000033 VKGL data sharing initiative Nederland PubMed: Kosaki, K et al. (2002), PubMed: Tartaglia, M et al. (2001) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Leiden, VKGL-NL_Nijmegen
+?/+? 2 A0106, A0107 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.215C>A r.(?) p.(Ala72Asp) SH2_1 - - - - - likely pathogenic g.112888199C>A g.112450395C>A - - PTPN11_000027 - PubMed: Chen, Y et al. (2006), PubMed: Tartaglia, M et al. (2004) - - Unknown - - - - - Gerard C.P. Schaafsma
+/., +?/+? 6 A0101, A0102, A0103, A0104, A0105 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.215C>G r.(?) p.(Ala72Gly) SH2_1 - - - - - likely pathogenic, pathogenic g.112888199C>G g.112450395C>G - - PTPN11_000029 VKGL data sharing initiative Nederland PubMed: Kratz, C. P et al. (2005), PubMed: Sarkozy, A et al. (2003), PubMed: Zenker, M et al. (2004), 2 more items - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
+?/+?, +?/. 18 A0121, A0122, A0123, A0124, A0125, A0126, A0127, A0128, A0129, A0130, A0131, A0132, A0133, A0231, 3 more items DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 3 c.215C>T r.(?) p.(Ala72Val) SH2_1 - - - - - likely pathogenic g.112888199C>T g.112450395C>T - - PTPN11_000028 VKGL data sharing initiative Nederland PubMed: Chen, Y et al. (2006), PubMed: Flotho, C et al. (2007), PubMed: Hou, H. A et al. (2007), 5 more items - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
+/., +?/+? 19 A0134, A0135, A0136, A0137, A0138, A0139, A0140, A0141, A0142, A0143, A0144, A0145, A0146, A0147, 3 more items DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 3 c.218C>T r.(?) p.(Thr73Ile) SH2_1 - - - - - likely pathogenic, pathogenic g.112888202C>T g.112450398C>T PTPN11(NM_002834.3):c.218C>T (p.T73I) - PTPN11_000030 VKGL data sharing initiative Nederland PubMed: Hou, H. A et al. (2007), PubMed: Kosaki, K et al. (2002), PubMed: Kratz, C. P et al. (2005), 6 more items - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - - - - - c.224C>T r.(?) p.(Ala75Val) - - - - - - VUS g.112888208C>T - - - PTPN11_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 38 A0168, A0169, A0170, A0171, A0172, A0173, A0174, A0175, A0176, A0177, A0178, A0179, A0180, A0181, 24 more items DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.226G>A r.(?) p.(Glu76Lys) SH2_1 - - - - - likely pathogenic g.112888210G>A g.112450406G>A - - PTPN11_000014 - PubMed: Chen, C. Y et al. (2006), PubMed: Flotho, C et al. (2007), PubMed: Hou, H. A et al. (2007), 5 more items - - Unknown - - - - - Gerard C.P. Schaafsma
+?/+? 4 A0202, A0203, A0204, A0253 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.226G>C r.(?) p.(Glu76Gln) SH2_1 - - - - - likely pathogenic g.112888210G>C g.112450406G>C - - PTPN11_000015 - PubMed: Hou, H. A et al. (2007), PubMed: Loh, M. L et al. (2004), PubMed: Tartaglia, M et al. (2004) - - Unknown - - - - - Gerard C.P. Schaafsma
+?/+? 3 A0150, A0151, A0223 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.227A>C r.(?) p.(Glu76Ala) SH2_1 - - - - - likely pathogenic g.112888211A>C g.112450407A>C - - PTPN11_000018 - PubMed: Christiansen, D. H et al. (2007), PubMed: Tartaglia, M et al. (2003) - - Unknown - - - - - Gerard C.P. Schaafsma
+?/+? 13 A0156, A0157, A0158, A0159, A0160, A0161, A0162, A0163, A0164, A0165, A0166, A0167, A0250 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.227A>G r.(?) p.(Glu76Gly) SH2_1 - - - - - likely pathogenic g.112888211A>G g.112450407A>G - - PTPN11_000016 - PubMed: Hou, H. A et al. (2007), PubMed: Kratz, C. P et al. (2005), PubMed: Loh, M. L et al. (2004), 2 more items - - Unknown - - - - - Gerard C.P. Schaafsma
+/., +?/+? 3 A0205 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.227A>T r.(?) p.(Glu76Val) SH2_1 - - - - - likely pathogenic, pathogenic g.112888211A>T g.112450407A>T PTPN11(NM_002834.3):c.227A>T (p.E76V) - PTPN11_000017 VKGL data sharing initiative Nederland PubMed: Tartaglia, M et al. (2003) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/., +?/+? 3 A0152, A0153 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.228G>C r.(?) p.(Glu76Asp) SH2_1 - - - - - likely pathogenic, pathogenic g.112888212G>C g.112450408G>C - - PTPN11_000019 VKGL data sharing initiative Nederland PubMed: Tartaglia, M et al. (2001), PubMed: Tartaglia, M et al. (2002) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
+/., +?/+? 3 A0154, A0155 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.228G>T r.(?) p.(Glu76Asp) SH2_1 - - - - - likely pathogenic, pathogenic g.112888212G>T g.112450408G>T - - PTPN11_000020 VKGL data sharing initiative Nederland PubMed: Musante, L et al. (2003), PubMed: Zenker, M et al. (2004) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
+?/. 2 - - - - - c.235C>A r.(?) p.(Gln79Lys) - - - - - - likely pathogenic g.112888219C>A g.112450415C>A PTPN11(NM_002834.3):c.235C>A (p.Q79K) - PTPN11_000122 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs397516803 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
+?/+? 2 A0206, A0207 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.236A>C r.(?) p.(Gln79Pro) SH2_1 - - - - - likely pathogenic g.112888220A>C g.112450416A>C - - PTPN11_000022 - PubMed: Sarkozy, A et al. (2003) - - Unknown - - - - - Gerard C.P. Schaafsma
+/., +?/+? 14 A0208, A0209, A0210, A0211, A0212, A0213, A0214, A0215, A0216, A0217, A0218 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.236A>G r.(?) p.(Gln79Arg) SH2_1 - - - - ACMG likely pathogenic, pathogenic, pathogenic (dominant) g.112888220A>G g.112450416A>G - - PTPN11_000021 4 heterozygous, no homozygous; Clinindb (India), ACMG PM1, PM2, PM5, PP3, PP4, PP5, 1 more item PubMed: Marinakis 2021, PubMed: Musante, L et al. (2003), PubMed: Narang 2020, Journal: Narang 2020, 4 more items - rs121918466 CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown - 4/2794 individuals - - - Gerard C.P. Schaafsma, Jan Traeger-Synodinos, VKGL-NL_Nijmegen, Mohammed Faruq
-/., -?/. 2 - - - - - c.255C>T r.(?) p.(His85=) - - - - - - benign, likely benign g.112888239C>T g.112450435C>T PTPN11(NM_002834.3):c.255C>T (p.H85=) - PTPN11_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 2 - DNA substitution (VariO:0136);transversion (VariO:0316) amino acid substitution (VariO:0021) - - c.317A>C r.(?) p.(Asp106Ala) - - - - - ACMG pathogenic g.112888301A>C g.112450497A>C - - PTPN11_000063 ACMG grading: PS3,PM1,PM2,PM6 confirmed de novo after segregation analysis, 1 more item - - rs397507517 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Nijmegen
+/., +?/. 2 - - - - - c.328G>A r.(?) p.(Glu110Lys) - - - - - - likely pathogenic, pathogenic g.112888312G>A g.112450508G>A - - PTPN11_000102 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs397507518 CLASSIFICATION record, Germline - 1/2793 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - - - - - c.332+7A>T r.(=) p.(=) - - - - - - likely benign g.112888323A>T - PTPN11(NM_002834.3):c.332+7A>T - PTPN11_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - - - - - c.332+17T>G r.(=) p.(=) - - - - - - benign g.112888333T>G - PTPN11(NM_002834.3):c.332+17T>G - PTPN11_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - - - - - c.348T>G r.(?) p.(His116Gln) - - - - - - VUS g.112891014T>G g.112453210T>G - - PTPN11_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - - - - - c.395A>G r.(?) p.(His132Arg) - - - - - - VUS g.112891061A>G - PTPN11(NM_002834.3):c.395A>G (p.H132R) - PTPN11_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - - - - - c.401G>C r.(?) p.(Ser134Thr) - - - - - - VUS g.112891067G>C - PTPN11(NM_002834.3):c.401G>C (p.S134T) - PTPN11_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/+?, +?/. 5 A0219, A0221 transversion (VariO:0316) amino acid substitution (VariO:0021) - 4 c.417G>C r.(?) p.(Glu139Asp) SH2_2 - - - - - likely pathogenic, pathogenic g.112891083G>C g.112453279G>C NM_002834.3:c.417G>C; p.Glu139Asp, PTPN11(NM_002834.3):c.417G>C (p.E139D) - PTPN11_000023 VKGL data sharing initiative Nederland PubMed: Loh, M. L et al. (2004), PubMed: Nair 2018, PubMed: Tartaglia, M et al. (2002) - rs397507520 CLASSIFICATION record, Unknown ? - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/+? 3 A0220 transversion (VariO:0316) amino acid substitution (VariO:0021) - 4 c.417G>T r.(?) p.(Glu139Asp) SH2_2 - - - - - likely pathogenic, pathogenic g.112891083G>T g.112453279G>T PTPN11(NM_002834.3):c.417G>T (p.E139D) - PTPN11_000024 VKGL data sharing initiative Nederland PubMed: Tartaglia, M et al. (2002) - - CLASSIFICATION record, Unknown - - - - - Gerard C.P. Schaafsma, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - - - - - c.436G>T r.(?) p.(Asp146Tyr) - - - - - - likely pathogenic g.112891102G>T g.112453298G>T - - PTPN11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+?, -?/., ?/. 5 A0222 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 4 c.455G>A r.(?) p.(Arg152His) SH2_2 - - - - - likely benign, likely pathogenic, VUS g.112891121G>A g.112453317G>A PTPN11(NM_002834.3):c.455G>A (p.R152H) - PTPN11_000025 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Chen, Y et al. (2006), PubMed: Narang 2020, Journal: Narang 2020 - rs397507521 CLASSIFICATION record, Germline, Unknown - 1/2795 individuals - - - Gerard C.P. Schaafsma, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - - - - - c.486C>T r.(?) p.(Asp162=) - - - - - - likely benign g.112891152C>T - PTPN11(NM_002834.3):c.486C>T (p.D162=) - PTPN11_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - - - - - c.517C>T r.(?) p.(Arg173Cys) - - - - - - likely benign g.112891183C>T g.112453379C>T PTPN11(NM_002834.3):c.517C>T (p.R173C) - PTPN11_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 4 - - - - - c.525+12G>C r.(=) p.(=) - - - - - - benign, likely benign g.112891203G>C g.112453399G>C PTPN11(NM_002834.3):c.525+12G>C - PTPN11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-/., -?/. 5 - - - - - c.526-8C>A r.(=) p.(=) - - - - - - benign, likely benign g.112892360C>A g.112454556C>A PTPN11(NM_002834.3):c.526-8C>A (, p.(=)) - PTPN11_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - - - - - c.537C>T r.(?) p.(Tyr179=) - - - - - - likely benign g.112892379C>T g.112454575C>T PTPN11(NM_002834.3):c.537C>T (p.(=)) - PTPN11_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - - - - - c.540C>T r.(?) p.(Asp180=) - - - - - - likely benign g.112892382C>T - PTPN11(NM_002834.3):c.540C>T (p.D180=) - PTPN11_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - - - - - c.556C>T r.(?) p.(Arg186Trp) - - - - - - VUS g.112892398C>T - PTPN11(NM_002834.3):c.556C>T (p.R186W) - PTPN11_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - - - - - c.558G>T r.(?) p.(Arg186=) - - - - - - likely benign g.112892400G>T g.112454596G>T PTPN11(NM_002834.3):c.558G>T (p.R186=) - PTPN11_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - - - - - c.565T>G r.(?) p.(Ser189Ala) - - - - - - likely benign g.112892407T>G g.112454603T>G PTPN11(NM_002834.3):c.565T>G (p.S189A) - PTPN11_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - - - - - c.591T>G r.(?) p.(Tyr197Ter) - - - - - - likely benign g.112892433T>G g.112454629T>G PTPN11(NM_002834.3):c.591T>G (p.Y197*) - PTPN11_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - transversion (VariO:0316) amino acid substitution (VariO:0021) - 5 c.598A>T r.(?) p.(Asn200Tyr) SH2 - - - - - VUS g.112892440A>T g.112454636A>T - - PTPN11_000012 - PubMed: Carapito 2014 - - Germline - - - - - Johan den Dunnen, Jelena Čalyševa
-?/. 2 - - - - - c.616T>C r.(?) p.(Leu206=) - - - - - - likely benign g.112892458T>C g.112454654T>C PTPN11(NM_002834.3):c.616T>C (p.L206=) - PTPN11_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - - - - - c.643-340T>C r.(=) p.(=) - - - - - - likely benign g.112893414T>C g.112455610T>C - - PTPN11_000123 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11066313 Germline - 1/2791 individuals - - - Mohammed Faruq
+?/. 1 - - protein truncation (VariO:0015) - 6 c.721_724del r.(?) p.(Asp241Lysfs*97) - - - - - - pathogenic (dominant) g.112893832_112893835del g.112456028_112456031del - - PTPN11_000121 - - - - Germline/De novo (untested) - - - - - Carmela Fusco
-?/. 1 - - - - - c.756+11A>G r.(=) p.(=) - - - - - - likely benign g.112893878A>G - PTPN11(NM_002834.3):c.756+11A>G - PTPN11_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - - - - - c.767A>G r.(?) p.(Gln256Arg) - - - - - - pathogenic g.112910758A>G g.112472954A>G - - PTPN11_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - - - - - c.774G>C r.(?) p.(Glu258Asp) - - - - - - likely pathogenic g.112910765G>C g.112472961G>C - - PTPN11_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - - - - - c.774G>T r.(?) p.(Glu258Asp) - - - - - - VUS g.112910765G>T g.112472961G>T - - PTPN11_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - - - - - c.781C>T r.(?) p.(Leu261Phe) - - - - - - pathogenic g.112910772C>T g.112472968C>T - - PTPN11_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 3 - - - - - c.794G>A r.(?) p.(Arg265Gln) - - - - - - likely pathogenic, pathogenic g.112910785G>A g.112472981G>A PTPN11(NM_002834.3):c.794G>A (p.(Arg265Gln), p.R265Q) - PTPN11_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/., +?/. 3 - DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 7 c.802G>A r.(?) p.(Gly268Ser) - - - - - - likely pathogenic, pathogenic g.112910793G>A g.112472989G>A PTPN11(NM_002834.3):c.802G>A (p.G268S) - PTPN11_000003 VKGL data sharing initiative Nederland PubMed: Joyce 2016 - rs397507527 CLASSIFICATION record, Unknown ? - - - - Pia Ostergaard, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 2 - - - - - c.802G>T r.(?) p.(Gly268Cys) - - - - - ACMG pathogenic, pathogenic (dominant) g.112910793G>T g.112472989G>T - - PTPN11_000067 ACMG PM1, PM2, PP2, PP3, PP5, VKGL data sharing initiative Nederland PubMed: Marinakis 2021 - rs397507527 CLASSIFICATION record, Germline - - - - - Jan Traeger-Synodinos, VKGL-NL_Nijmegen
?/. 1 - - - - - c.810G>T r.(?) p.(Arg270Ser) - - - - - - VUS g.112910801G>T g.112472997G>T PTPN11(NM_002834.3):c.810G>T (p.(Arg270Ser)) - PTPN11_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 - - - - - c.836A>G r.(?) p.(Tyr279Cys) - - - - - - pathogenic, pathogenic (dominant) g.112910827A>G g.112473023A>G PTPN11(NM_002834.3):c.836A>G (p.(Tyr279Cys)) - PTPN11_000068 VKGL data sharing initiative Nederland PubMed: White 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 2 - - - - - c.844A>G r.(?) p.(Ile282Val) - - - - - - pathogenic g.112910835A>G g.112473031A>G PTPN11(NM_002834.3):c.844A>G (p.(Ile282Val)) - PTPN11_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 1 - - - - - c.846C>G r.(?) p.(Ile282Met) - - - - - - pathogenic g.112910837C>G g.112473033C>G - - PTPN11_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - transition (VariO:0313) nonsynonymous variation (VariO:0017) - - c.853T>C r.(?) p.(Phe285Leu) - - - - - ACMG pathogenic, pathogenic (dominant) g.112910844T>C g.112473040T>C - - PTPN11_000071 ACMG: PS2, PS4, PM5, PM2_SUP, PP3, VKGL data sharing initiative Nederland PMID: 11992261, 23771920, 15689434, 15996221, 17339163, 18470943, 18678287 VCV000040528.14 rs397507531 CLASSIFICATION record, Germline ? - - - - Andreas Laner, VKGL-NL_Nijmegen
+?/. 1 - DNA substitution (VariO:0136) - - - c.853+1G>A r.spl? p.? - - - - - ACMG pathogenic g.112910845G>A - - - PTPN11_000135 - PubMed: Mendonca 2021 - - Somatic - 0.032 - - - Vanessa Mendonça
-?/. 1 - - - - - c.853+18G>C r.(=) p.(=) - - - - - - likely benign g.112910862G>C g.112473058G>C - - PTPN11_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - - - - - c.854-223C>T r.(=) p.(=) - - - - - - likely benign g.112915232C>T g.112477428C>T - - PTPN11_000124 39 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73209632 Germline - 39/2795 individuals - - - Mohammed Faruq
+/. 3 - - - - - c.854T>C r.(?) p.(Phe285Ser) - - - - - ACMG pathogenic g.112915455T>C g.112477651T>C PTPN11(NM_002834.3):c.854T>C (p.(Phe285Ser)) - PTPN11_000026 VKGL data sharing initiative Nederland PubMed: Trujillano 2017 - - CLASSIFICATION record, De novo - - - - - Daniel Trujillano, VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 1 - - - - - c.855T>G r.(?) p.(Phe285Leu) - - - - - - pathogenic g.112915456T>G g.112477652T>G - - PTPN11_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - - - - - c.860A>C r.(?) p.(His287Pro) - - - - - - VUS g.112915461A>C - - - PTPN11_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - - - - - c.865A>G r.(?) p.(Arg289Gly) - - - - - - pathogenic g.112915466A>G g.112477662A>G - - PTPN11_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ?/? 6 - DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) 1 more item - c.922A>G r.(922a>g), r.(?) p.(Asn308Asp) - - - - - ACMG pathogenic, pathogenic (dominant), VUS g.112915523A>G g.112477719A>G PTPN11(NM_002834.3):c.922A>G (p.N308D, p.(Asn308Asp)) - PTPN11_000047 ACMG PM1, PM2, PM5, PP2, PP3, PP5, ACMG PS3, PM1, PM2, PM5, PP2, PP3, PP4, PP5, 1 more item PubMed: Marinakis 2021, PubMed: Siegfried 2017 - rs28933386 CLASSIFICATION record, Germline, Germline/De novo (untested) ? - - - - Gerard C.P. Schaafsma, VKGL-NL_Leiden, VKGL-NL_Rotterdam, Jan Traeger-Synodinos, MobiDetails
+/. 2 - - - - - c.923A>G r.(?) p.(Asn308Ser) - - - - - - pathogenic g.112915524A>G g.112477720A>G PTPN11(NM_002834.3):c.923A>G (p.N308S) - PTPN11_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/., ?/. 2 - - - - - c.925A>G r.(?) p.(Ile309Val) - - - - - - likely benign, VUS g.112915526A>G g.112477722A>G PTPN11(NM_002834.3):c.925A>G (p.I309V) - PTPN11_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
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