Full data view for gene PTPN23

Information The variants shown are described using the NM_015466.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.299_301del r.(?) p.(Phe100del) Unknown - VUS g.47446506_47446508del - PTPN23(NM_015466.4):c.299_301delTCT (p.F100del) - PTPN23_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.940_942del r.(?) p.(Lys314del) Both (homozygous) - VUS g.47449011_47449013del g.47407521_47407523del - - PTPN23_000021 - PubMed: Al-Kasbi 2022 - rs780521613 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10DF14900 PubMed: Al-Kasbi 2022 patient, other affecteds in family F - Oman - - - - - 1 Johan den Dunnen
?/. - c.1055C>A r.(?) p.(Thr352Lys) Unknown - VUS g.47449238C>A - PTPN23(NM_015466.4):c.1055C>A (p.T352K) - PTPN23_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1215C>T r.(?) p.(Pro405=) Unknown - likely benign g.47449865C>T - PTPN23(NM_015466.3):c.1215C>T (p.P405=) - PTPN23_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1291C>T r.(?) p.(Arg431Trp) Unknown - VUS g.47449941C>T - PTPN23(NM_015466.2):c.1291C>T (p.(Arg431Trp)) - PTPN23_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1580G>A r.(?) p.(Arg527His) Unknown - VUS g.47450515G>A - PTPN23(NM_015466.2):c.1580G>A (p.(Arg527His)) - PTPN23_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1748A>G r.(?) p.(Lys583Arg) Unknown - VUS g.47450758A>G - - - PTPN23_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.1902C>G r.(?) p.(Asn634Lys) Maternal (confirmed) - pathogenic g.47451011C>G g.47409521C>G - - PTPN23_000006 - - - - Germline yes - - - - DNA SEQ-NG-I whole blood WES DD R_1133 - 2 - generation familly, 1 affected (proband, the only child), unaffected heterozygous carrier parents F no Poland white >07y - - depakine and levetiracetam 3 Rafał Płoski
-?/. - c.2369C>T r.(?) p.(Pro790Leu) Unknown - likely benign g.47451657C>T - PTPN23(NM_015466.2):c.2369C>T (p.(Pro790Leu)) - PTPN23_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2878_2889del r.(?) p.(Gln960_Pro963del) Unknown - likely benign g.47452166_47452177del - PTPN23(NM_015466.2):c.2878_2889delCAGCCCCATCCT (p.(Gln960_Pro963del)) - PTPN23_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.2974del r.(?) p.(Leu992Tyrfs*168) Paternal (confirmed) - pathogenic g.47452262del g.47410772del 2973delC - PTPN23_000007 - - - - Germline yes - - - - DNA SEQ-NG-I whole blood WES DD R_1133 - 2 - generation familly, 1 affected (proband, the only child), unaffected heterozygous carrier parents F no Poland white >07y - - depakine and levetiracetam 3 Rafał Płoski
-?/. - c.3043C>T r.(?) p.(His1015Tyr) Unknown - likely benign g.47452331C>T - PTPN23(NM_015466.3):c.3043C>T (p.H1015Y) - PTPN23_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3287C>T r.(?) p.(Pro1096Leu) Unknown - likely benign g.47452575C>T g.47411085C>T PTPN23(NM_015466.3):c.3287C>T (p.P1096L) - PTPN23_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3388G>A r.(?) p.(Gly1130Ser) Unknown - likely benign g.47452676G>A g.47411186G>A PTPN23(NM_015466.2):c.3388G>A (p.(Gly1130Ser)) - PTPN23_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3484C>T r.(?) p.(Arg1162Trp) Both (homozygous) - likely benign g.47452772C>T g.47411282C>T - - PTPN23_000022 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - 4 Johan den Dunnen
?/. - c.3484C>T r.(?) p.(Arg1162Trp) Both (homozygous) - likely benign g.47452772C>T g.47411282C>T - - PTPN23_000022 - PubMed: Chia 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII4 PubMed: Chia 2018 affected sister F yes Jordan - - - - - 1 Johan den Dunnen
-?/. - c.3537G>A r.(?) p.(Glu1179=) Unknown - likely benign g.47452825G>A g.47411335G>A PTPN23(NM_015466.3):c.3537G>A (p.E1179=) - PTPN23_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3768del r.(?) p.(Pro1258Argfs*2) Unknown ACMG pathogenic g.47453061del g.47411571del - - PTPN23_000017 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OPA IR_GH_0182 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.3995G>T r.(?) p.(Arg1332Leu) Both (homozygous) - likely pathogenic (recessive) g.47453379G>T g.47411889G>T - - PTPN23_000008 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam08DG00322 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 3 Johan den Dunnen
?/. - c.4033C>T r.(?) p.(Arg1345Cys) Unknown - VUS g.47453417C>T - PTPN23(NM_015466.4):c.4033C>T (p.R1345C) - PTPN23_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4048C>T r.(?) p.(Leu1350=) Unknown - likely benign g.47453432C>T g.47411942C>T PTPN23(NM_015466.3):c.4048C>T (p.L1350=) - PTPN23_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4286G>A r.(?) p.(Arg1429Gln) Unknown - likely pathogenic g.47453880G>A - PTPN23(NM_015466.2):c.4286G>A (p.(Arg1429Gln)) - PTPN23_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4643T>C r.(?) p.(Leu1548Pro) Unknown - likely benign g.47454407T>C g.47412917T>C PTPN23(NM_015466.2):c.4643T>C (p.(Leu1548Pro)) - PTPN23_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4655T>C r.(?) p.(Leu1552Pro) Unknown - likely benign g.47454419T>C g.47412929T>C PTPN23(NM_015466.2):c.4655T>C (p.(Leu1552Pro)) - PTPN23_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4886C>G r.(?) p.(Pro1629Arg) Unknown ACMG VUS g.47454650C>G - - - PTPN23_000018 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OPA IR_GH_0182 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
-?/. - c.*1080G>T r.(=) p.(=) Unknown - likely benign g.47455755G>T g.47414265G>T SCAP(NM_012235.4):c.3509C>A (p.T1170N) - PTPN23_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1404T>G r.(=) p.(=) Unknown - VUS g.47456079T>G g.47414589T>G - - SCAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1447C>A r.(=) p.(=) Unknown - likely benign g.47456122C>A g.47414632C>A - - SCAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3948G>C r.(=) p.(=) Unknown - likely benign g.47458623G>C - SCAP(NM_012235.4):c.3045C>G (p.F1015L) - PTPN23_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4004C>T r.(=) p.(=) Unknown - VUS g.47458679C>T g.47417189C>T - - SCAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4222C>A r.(=) p.(=) Unknown - likely benign g.47458897C>A - SCAP(NM_012235.2):c.2867G>T (p.(Gly956Val)) - PTPN23_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4536G>T r.(=) p.(=) Unknown - likely benign g.47459211G>T g.47417721G>T SCAP(NM_012235.4):c.2553C>A (p.S851R) - PTPN23_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5004C>T r.(=) p.(=) Unknown - benign g.47459679C>T g.47418189C>T - - SCAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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