All variants in the PTPN11 gene

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

481 entries on 5 pages. Showing entries 1 - 100.
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Effect     

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     
+?/+? 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 - - - 0 - Gerard C.P. Schaafsma
+/. - - - - - c.5C>T r.(?) p.(Thr2Ile) - - - - - - pathogenic g.112856920C>T g.112419116C>T - - PTPN11_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - - - - - c.5C>T r.(?) p.(Thr2Ile) - - - - - - pathogenic g.112856920C>T - - - PTPN11_000125 - - - rs267606990 CLASSIFICATION record - - - 0 - MobiDetails
?/. - - - - - c.28A>G r.(?) p.(Asn10Asp) - - - - - - VUS g.112884093A>G g.112446289A>G - - PTPN11_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - - - - - c.29A>G r.(?) p.(Asn10Ser) - - - - - - VUS g.112884094A>G - - - PTPN11_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - - - - - 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
+?/+? A0004 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 g.112884189A>G g.112446385A>G - - PTPN11_000046 - PubMed: Tartaglia, M et al. (2002) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? 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 g.112884189A>G g.112446385A>G - - PTPN11_000046 - PubMed: Zenker, M et al. (2004) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0001 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 g.112884189A>G g.112446385A>G - - PTPN11_000046 - PubMed: Sarkozy, A et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0002 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 g.112884189A>G g.112446385A>G - - PTPN11_000046 - PubMed: Sarkozy, A et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0003 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 g.112884189A>G g.112446385A>G - - PTPN11_000046 - PubMed: Tartaglia, M et al. (2002) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+/. - - - - - c.124A>G r.(?) p.(Thr42Ala) - - - - - - pathogenic g.112884189A>G g.112446385A>G - - PTPN11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - - - - - c.156C>T r.(?) p.(Thr52=) - - - - - - likely benign g.112888140C>T g.112450336C>T - - PTPN11_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.166A>G r.(?) p.(Ile56Val) SH2 - - - - - VUS g.112888150A>G g.112450346A>G - - PTPN11_000013 one parent carried the same variant PubMed: Atik 2016 - - Germline - - - 0 - Jelena Čalyševa
?/. - - - - 3 c.166A>G r.(?) p.(Ile56Val) - - - - - - VUS g.112888150A>G g.112450346A>G - - PTPN11_000013 - PubMed: Atik 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - - - - - c.166A>G r.(?) p.(Ile56Val) - - - - - - pathogenic g.112888150A>G g.112450346A>G PTPN11(NM_002834.3):c.166A>G (p.I56V) - PTPN11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - - - - - c.166A>G r.(?) p.(Ile56Val) - - - - - - likely pathogenic g.112888150A>G - PTPN11(NM_002834.3):c.166A>G (p.I56V) - PTPN11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - - - - - c.172A>C r.(?) p.(Asn58His) - - - - - - pathogenic g.112888156A>C g.112450352A>C - - PTPN11_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+? 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 g.112888156A>G g.112450352A>G - - PTPN11_000040 - PubMed: Zenker, M et al. (2004) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+/. - - - - - c.172A>G r.(?) p.(Asn58Asp) - - - - - - pathogenic g.112888156A>G g.112450352A>G - - PTPN11_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+? 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 - - - 0 - Gerard C.P. Schaafsma
?/. - - - - - 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_Utrecht
?/. - - - - - c.173A>G r.(?) p.(Asn58Ser) - - - - - - VUS g.112888157A>G - PTPN11(NM_002834.3):c.173A>G (p.N58S) - PTPN11_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - - - - - c.174C>A r.(?) p.(Asn58Lys) - - - - - - pathogenic g.112888158C>A g.112450354C>A - - PTPN11_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+? A0007 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.174C>G r.(?) p.(Asn58Lys) SH2_1 - - - - - likely pathogenic g.112888158C>G g.112450354C>G - - PTPN11_000042 - PubMed: Musante, L et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
?/. - - - - - c.174C>G r.(?) p.(Asn58Lys) - - - - - - VUS g.112888158C>G g.112450354C>G PTPN11(NM_002834.3):c.174C>G (p.(Asn58Lys)) - PTPN11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - - - - - c.174C>G r.(?) p.(Asn58Lys) - - - - - - pathogenic g.112888158C>G g.112450354C>G PTPN11(NM_002834.3):c.174C>G (p.(Asn58Lys)) - PTPN11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - 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 ? - - 0 - Jelena Čalyševa
?/. - - - - 3 c.175A>G r.(?) p.(Thr59Ala) - - - - - - VUS g.112888159A>G g.112450355A>G - - PTPN11_000010 - PubMed: Ko 2008 - - Germline - - - 0 - Johan den Dunnen
?/. - - - - - c.178G>A r.(?) p.(Gly60Ser) - - - - - - VUS g.112888162G>A g.112450358G>A - - PTPN11_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+? 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 - - - 0 - Gerard C.P. Schaafsma
+?/+? A0012 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>C r.(?) p.(Gly60Ala) SH2_1 - - - - - likely pathogenic g.112888163G>C g.112450359G>C - - PTPN11_000045 - PubMed: Roti, G et al. (2006) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0011 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>C r.(?) p.(Gly60Ala) SH2_1 - - - - - likely pathogenic g.112888163G>C g.112450359G>C - - PTPN11_000045 - PubMed: Tartaglia, M et al. (2002) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0010 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>C r.(?) p.(Gly60Ala) SH2_1 - - - - - likely pathogenic g.112888163G>C g.112450359G>C - - PTPN11_000045 - PubMed: Tartaglia, M et al. (2002) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/. - - - - - c.179G>C r.(?) p.(Gly60Ala) - - - - - - likely pathogenic g.112888163G>C g.112450359G>C PTPN11(NM_002834.3):c.179G>C (p.G60A) - PTPN11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - - - - - c.179G>C r.(?) p.(Gly60Ala) - - - - - - pathogenic g.112888163G>C g.112450359G>C PTPN11(NM_002834.3):c.179G>C (p.G60A) - PTPN11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/+? A0022 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0023 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Yamamoto, T et al. (2006) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0020 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0021 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0019 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0018 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0013 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Tartaglia, M et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0017 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0016 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0015 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0014 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.179G>T r.(?) p.(Gly60Val) SH2_1 - - - - - likely pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+/. - - - - - c.179G>T r.(?) p.(Gly60Val) - - - - - - pathogenic g.112888163G>T g.112450359G>T - - PTPN11_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.181G>A r.(?) p.(Asp61Asn) - - - - - - likely pathogenic g.112888165G>A g.112450361G>A - - PTPN11_000006 - PubMed: Joyce 2016 - rs397507510 Unknown ? - - 0 - Pia Ostergaard
+?/+? A0060 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 g.112888165G>A g.112450361G>A - - PTPN11_000006 - PubMed: Loh, M. L et al. (2004) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? 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 g.112888165G>A g.112450361G>A - - PTPN11_000006 - PubMed: Musante, L et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0059 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 g.112888165G>A g.112450361G>A - - PTPN11_000006 - PubMed: Tartaglia, M et al. (2002) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+/. - - - - - c.181G>A r.(?) p.(Asp61Asn) - - - - - - pathogenic g.112888165G>A g.112450361G>A PTPN11(NM_002834.3):c.181G>A (p.D61N) - PTPN11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - - - - - c.181G>A r.(?) p.(Asp61Asn) - - - - - - pathogenic g.112888165G>A - PTPN11(NM_002834.3):c.181G>A (p.D61N) - PTPN11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - - - - - 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
+?/+? A0230 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) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0058 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0057 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0056 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0055 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0054 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0053 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0052 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: Loh, M. L et al. (2004) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0051 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: Tartaglia, M et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0050 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: Tartaglia, M et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0228 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) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0229 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) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0048 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: Tartaglia, M et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0049 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: Tartaglia, M et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0046 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: Tartaglia, M et al. (2004) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0047 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: Tartaglia, M et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
?/. - 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 - - - 0 - Jelena Čalyševa
?/. - - - - - c.182A>C r.(?) p.(Asp61Ala) - - - - - - VUS g.112888166A>C g.112450362A>C - - PTPN11_000011 - PubMed: Chen 2009 - - Germline - - - 0 - Johan den Dunnen
+?/. - DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) - 3 c.182A>G r.(?) p.(Asp61Gly) - - - - - - likely pathogenic g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Joyce 2016 - rs121918461 De novo - - - 0 - Pia Ostergaard
+?/+? 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Yamamoto, T et al. (2006) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0034 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0031 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Zenker, M et al. (2004) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0030 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Musante, L et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0033 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0032 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0028 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Kosaki, K et al. (2002) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0029 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Musante, L et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0026 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Tartaglia, M et al. (2002) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0027 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Tartaglia, M et al. (2001) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0025 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 g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Tartaglia, M et al. (2002) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+/. - - - - - c.182A>G r.(?) p.(Asp61Gly) - - - - - - pathogenic g.112888166A>G g.112450362A>G PTPN11(NM_002834.3):c.182A>G (p.D61G) - PTPN11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - - - - 3 c.182A>G r.(?) p.(Asp61Gly) - - - - - - pathogenic (dominant) g.112888166A>G g.112450362A>G - - PTPN11_000005 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - - - - - c.182A>G r.(?) p.(Asp61Gly) - - - - - - pathogenic g.112888166A>G - PTPN11(NM_002834.3):c.182A>G (p.D61G) - PTPN11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - - - - - c.182A>G r.(?) p.(Asp61Gly) - - - - - - pathogenic g.112888166A>G - - - PTPN11_000005 - - - - De novo - - - 0 - Simin Zheng
+?/+? 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: Paulsson, K et al. (2008) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0040 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0041 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0042 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0043 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0044 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0045 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) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0039 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: Kratz, C. P et al. (2005) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0038 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: Tartaglia, M et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0037 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: Tartaglia, M et al. (2003) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? A0036 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: Tartaglia, M et al. (2004) - - Unknown - - - 0 - Gerard C.P. Schaafsma
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