Full data view for gene TONSL

Information The variants shown are described using the NM_013432.4 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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.25+2dup r.spl p.? Parent #1 - pathogenic (recessive) g.145669771dup g.144444388dup 25+2dupT - TONSL_000018 no variant 2nd chromosome Journal: Burrage 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat10 Journal: Burrage 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.26-10C>T r.(=) p.(=) Unknown - likely benign g.145669668G>A - TONSL(NM_013432.5):c.26-10C>T - TONSL_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.122-5C>G r.spl? p.? Parent #2 - pathogenic (recessive) g.145669412G>C g.144444029G>C - - TONSL_000010 - Journal: Burrage 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat13 Journal: Burrage 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.125G>A r.(?) p.(Arg42His) Maternal (confirmed) - pathogenic (recessive) g.145669404C>T g.144444021C>T - - TONSL_000031 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat9 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - 1 Johan den Dunnen
?/. - c.264+1G>A r.spl? p.? Unknown - VUS g.145669264C>T - TONSL(NM_013432.4):c.264+1G>A (p.?) - TONSL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295del r.(?) p.(Ser99Profs*59) Parent #1 - pathogenic (recessive) g.145668675del g.144443292del 295delT - TONSL_000033 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat10 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - 1 Johan den Dunnen
+/. - c.329G>A r.(?) p.(Trp110*) Parent #1 - pathogenic (recessive) g.145668640C>T g.144443257C>T - - TONSL_000016 - Journal: Burrage 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SMD -Pat8 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
?/. - c.425C>G r.(?) p.(Ala142Gly) Unknown - VUS g.145668544G>C - - - TONSL_000045 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.460C>T r.(?) p.(Gln154*) Parent #2 - pathogenic (recessive) g.145668178G>A g.144442795G>A - - TONSL_000003 - Journal: Burrage 2019 - rs1026265047 Germline - - - - - DNA SEQ, SEQ-NG - - SEMDSP -Pat1 Burrage ASHG2018 P277, Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.521G>A r.(?) p.(Ser174Asn) Parent #2 - pathogenic (recessive) g.145668117C>T g.144442734C>T - - TONSL_000030 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat8 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - 1 Johan den Dunnen
+/. - c.578+1G>A r.449_578del p.Thr151Argfs*42 Paternal (confirmed) - pathogenic (recessive) g.145668059C>T g.144442676C>T - - TONSL_000034 - Journal: Chang 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SEMDSP -Pat11 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. - c.578+1G>T r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.145668059C>A g.144442676C>A - - TONSL_000026 no variant 2nd allele Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES SEMDSP -Pat6 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Finland - - - - - 1 Johan den Dunnen
+/. - c.595G>A r.(?) p.(Glu199Lys) Parent #2 - pathogenic (recessive) g.145667779C>T g.144442396C>T - - TONSL_000015 - Journal: Burrage 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SMD -Pat7-1 Journal: Burrage 2019 2-generation family, affected brother/SISTER F - - - - - - - 2 Johan den Dunnen
+/. - c.595G>A r.(?) p.(Glu199Lys) Parent #2 - pathogenic (recessive) g.145667779C>T g.144442396C>T - - TONSL_000015 - Journal: Burrage 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SMD -Pat7-2 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.726C>T r.(?) p.(=) Unknown - likely benign g.145667648G>A - TONSL(NM_013432.5):c.726C>T (p.(Ser242=)) - TONSL_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.735C>G r.(?) p.(Cys245Trp) Paternal (confirmed) - VUS g.145667639G>C g.144442256G>C - - TONSL_000022 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES SEMDSP -Pat3 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. - c.737del r.(?) p.(Val246Glyfs*20) Paternal (confirmed) - pathogenic (recessive) g.145667637del g.144442254del 737delT - TONSL_000021 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES SEMDSP -Pat3 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. - c.866-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.145666495C>G g.144441112C>G - - TONSL_000013 - Journal: Burrage 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SMD -Pat7-1 Journal: Burrage 2019 2-generation family, affected brother/SISTER F - - - - - - - 2 Johan den Dunnen
+/. - c.866-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.145666495C>G g.144441112C>G - - TONSL_000013 - Journal: Burrage 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SMD -Pat7-2 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
?/. - c.933G>A r.(?) p.(Met311Ile) Unknown - VUS g.145666427C>T - TONSL(NM_013432.4):c.933G>A (p.(Met311Ile)) - TONSL_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1090G>C r.(?) p.(Asp364His) Paternal (confirmed) - pathogenic (recessive) g.145666175C>G g.144440792C>G - - TONSL_000025 no variant 2nd allele Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - quad WES SEMDSP -Pat5 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic) - - - - - 1 Johan den Dunnen
?/. - c.1220A>G r.(?) p.(Tyr407Cys) Unknown - VUS g.145665804T>C g.144440421T>C TONSL(NM_013432.5):c.1220A>G (p.Y407C) - TONSL_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1289A>G r.(?) p.(Gln430Arg) Maternal (inferred) - pathogenic (recessive) g.145665735T>C g.144440352T>C - - TONSL_000042 - PubMed: Micale 2020 - rs776042221 Germline - - - - - DNA PCR blood WGS SEMDSP 17-2317 PubMed: Micale 2020 - F no (Italy) - - - - - 1 Lucia Micale
+/. 10i c.1291-14_1291-11del r.[1291_1323del,1290_1291ins[1291-37_1291-15;ugcuccucag]] p.(=) Maternal (confirmed) - pathogenic (recessive) g.145665606_145665609del g.144440223_144440226del 1291-11_1291-14delCCTC - TONSL_000035 - Journal: Chang 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SEMDSP -Pat11 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic) - - - - - 1 Johan den Dunnen
?/. - c.1415_1423del r.(?) p.(Glu472_Ala474del) Unknown - VUS g.145665472_145665480del - TONSL(NM_013432.5):c.1415_1423del (p.(Glu472_Ala474del)) - TONSL_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1459G>A r.(?) p.(Glu487Lys) Parent #1 - pathogenic (recessive) g.145665425C>T g.144440042C>T - - TONSL_000036 - Journal: Burrage 2019 - rs563710728 Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat2 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1459G>A r.(?) p.(Glu487Lys) Parent #1 - pathogenic (recessive) g.145665425C>T g.144440042C>T - - TONSL_000036 - Journal: Burrage 2019 - rs775551492 Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat4 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1459G>A r.(?) p.(Glu487Lys) Paternal (confirmed) - pathogenic (recessive) g.145665425C>T g.144440042C>T - - TONSL_000036 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat9 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - 1 Johan den Dunnen
+/. - c.1459G>A r.(?) p.(Glu487Lys) Parent #1 - pathogenic (recessive) g.145665425C>T g.144440042C>T - - TONSL_000036 no variant 2nd allele Journal: Chang 2019 - - Germline - - - - - DNA SEQ - - SEMDSP -Pat12 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - 1 Johan den Dunnen
+/. - c.1459G>A r.(?) p.(Glu487Lys) Parent #2 - pathogenic (recessive) g.145665425C>T g.144440042C>T - - TONSL_000036 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat10 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - 1 Johan den Dunnen
+/. - c.1471_1472del r.(?) p.(Ser491Argfs*65) Parent #1 - pathogenic (recessive) g.145665415_145665416del g.144440032_144440033del 1471_1472delTC - TONSL_000029 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat8 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - 1 Johan den Dunnen
+/. - c.1531C>T r.(?) p.(Gln511*) Parent #1 - pathogenic (recessive) g.145664068G>A g.144438685G>A - - TONSL_000019 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES SEMDSP -Pat2 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. - c.1602_1612del r.(?) p.(Ala536Glyfs*17) Parent #2 - pathogenic (recessive) g.145663900_145663910del g.144438517_144438527del - - TONSL_000004 - Journal: Burrage 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat2 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1615G>A r.(?) p.(Glu539Lys) Maternal (confirmed) - pathogenic (recessive) g.145663892C>T g.144438509C>T - - TONSL_000023 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES SEMDSP -Pat3 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
-?/. - c.1631G>A r.(?) p.(Arg544His) Unknown - likely benign g.145663876C>T - TONSL(NM_013432.5):c.1631G>A (p.(Arg544His)) - TONSL_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1673G>A r.(?) p.(Arg558Gln) Both (homozygous) - pathogenic (recessive) g.145662463C>T g.144437080C>T - - TONSL_000024 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES SEMDSP -Pat4 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Brazil African black;non-Latin European - - - - 1 Johan den Dunnen
?/. - c.1768G>A r.(?) p.(Asp590Asn) Unknown - VUS g.145662262C>T - TONSL(NM_013432.5):c.1768G>A (p.(Asp590Asn)) - TONSL_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1837G>T r.(?) p.(Val613Leu) Parent #2 - pathogenic (recessive) g.145662193C>A g.144436810C>A - - TONSL_000017 - Journal: Burrage 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SMD -Pat8 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1864dup r.(?) p.(Ala622Glyfs*67) Parent #2 - pathogenic (recessive) g.145662171dup g.144436788dup - - TONSL_000008 - Journal: Burrage 2019 - rs762903420 Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat5 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1864dup r.(?) p.(Ala622Glyfs*67) Parent #2 - pathogenic (recessive) g.145662171dup g.144436788dup - - TONSL_000008 - - - - Germline yes 0.000004029 - - - RNA SEQ-NG peripheral blood - SEMDSP - - - M yes (Turkey) - - - - - 1 Murat Ozturk
+/. - c.1958C>T r.(?) p.(Thr653Met) Parent #2 - pathogenic (recessive) g.145661997G>A g.144436614G>A - - TONSL_000014 - Journal: Burrage 2019 - rs755055463 Germline - - - - - DNA SEQ, SEQ-NG - WES SMD -Pat6 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
?/. - c.1989_1991del r.(?) p.(Leu664del) Paternal (confirmed) - VUS g.145661968_145661970del g.144436585_144436587del - - TONSL_000032 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat9 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - 1 Johan den Dunnen
-?/. - c.2015-4A>G r.spl? p.? Unknown - likely benign g.145661805T>C - TONSL(NM_013432.5):c.2015-4A>G - TONSL_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2068G>A r.(?) p.(Glu690Lys) Parent #1 - pathogenic (recessive) g.145661748C>T g.144436365C>T - - TONSL_000046 - - RCV001935754.6 rs546911071 Germline yes 0.00001228 - - - RNA SEQ-NG peripheral blood - SEMDSP - - - M yes (Turkey) - - - - - 1 Murat Ozturk
+/. - c.2137C>T r.(?) p.(Gln713*) Parent #1 - pathogenic (recessive) g.145661679G>A g.144436296G>A - - TONSL_000007 - Journal: Burrage 2019 - rs563710728 Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat5 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2137C>T r.(?) p.(Gln713*) Parent #1 - pathogenic (recessive) g.145661679G>A g.144436296G>A - - TONSL_000007 - Journal: Burrage 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SMD -Pat6 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
?/. - c.2288C>A r.(?) p.(Ser763*) Unknown - VUS g.145661528G>T - TONSL(NM_013432.5):c.2288C>A (p.(Ser763*)) - TONSL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2407C>T r.(?) p.(Gln803*) Parent #2 - pathogenic (recessive) g.145661409G>A g.144436026G>A - - TONSL_000012 - Journal: Burrage 2019 - rs769100855 Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat15 Journal: Burrage 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2638_2647delinsGG r.(?) p.(Arg880Glyfs*10) Parent #2 - pathogenic (recessive) g.145661169_145661178delinsCC g.144435786_144435795delinsCC - - TONSL_000006 - Journal: Burrage 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat4 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.2761G>C r.(?) p.(Ala921Pro) Unknown - likely benign g.145661055C>G - TONSL(NM_013432.4):c.2761G>C (p.(Ala921Pro)) - TONSL_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2800C>T r.(?) p.(Arg934Trp) Parent #1 - pathogenic (recessive) g.145660909G>A g.144435526G>A - - TONSL_000037 - Burrage ASHG2018 P277, Journal: Burrage 2019 - rs755575416 Germline - - - 1 - DNA SEQ, SEQ-NG - - SEMDSP -Pat1 Burrage ASHG2018 P277, Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2800C>T r.(?) p.(Arg934Trp) Paternal (confirmed) - pathogenic (recessive) g.145660909G>A g.144435526G>A - - TONSL_000037 - Journal: Chang 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Fam1Pat1/2 Journal: Chang 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Korea, South (Republic) - - - - - 2 Johan den Dunnen
+/. - c.2800C>T r.(?) p.(Arg934Trp) Parent #1 - pathogenic (recessive) g.145660909G>A g.144435526G>A - - TONSL_000037 - Journal: Burrage 2019 - rs755575416 Germline yes - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat3-1 Journal: Burrage 2019 2-generation family, 2 affected brothers M - - - - - - - 2 Johan den Dunnen
+/. - c.2800C>T r.(?) p.(Arg934Trp) Parent #1 - pathogenic (recessive) g.145660909G>A g.144435526G>A - - TONSL_000037 - Journal: Burrage 2019 - rs755575416 Germline yes - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat3-2 Journal: Burrage 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2800C>T r.(?) p.(Arg934Trp) Parent #1 - pathogenic (recessive) g.145660909G>A g.144435526G>A - - TONSL_000037 no variant 2nd allele Journal: Burrage 2019 - rs75557541 Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat9 Journal: Burrage 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2800C>T r.(?) p.(Arg934Trp) Parent #1 - pathogenic (recessive) g.145660909G>A g.144435526G>A - - TONSL_000037 - Journal: Burrage 2019 - rs75557541 Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat14 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2800C>T r.(?) p.(Arg934Trp) Parent #1 - pathogenic (recessive) g.145660909G>A g.144435526G>A - - TONSL_000037 - Journal: Burrage 2019 - rs755575416 Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat15 Journal: Burrage 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.2907C>A r.(?) p.(Tyr969*) Parent #1 - pathogenic (recessive) g.145660499G>T g.144435116G>T - - TONSL_000027 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat7 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. - c.2917G>A r.(?) p.(Gly973Arg) Parent #2 - pathogenic (recessive) g.145660489C>T g.144435106C>T - - TONSL_000020 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES SEMDSP -Pat2 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. - c.3096dup r.(?) p.(Gln1033Thrfs*57) Parent #1 - pathogenic (recessive) g.145659653dup g.144434270dup 3096dupA - TONSL_000009 - Journal: Burrage 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat13 Journal: Burrage 2019 - M - - - - - - - 1 Johan den Dunnen
+?/. 21 c.3269T>G r.(?) p.(Leu1090Arg) Paternal (inferred) - pathogenic (recessive) g.145659479A>C g.144434096A>C - - TONSL_000041 - PubMed: Micale 2020 - - Germline - - - - - DNA PCR blood WGS SEMDSP 17-2317 PubMed: Micale 2020 - F no (Italy) - - - - - 1 Lucia Micale
?/. - c.3559+4A>G r.(?) p.(?) Unknown - VUS g.145658967T>C - - - TONSL_000044 - - - rs782371574 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 22i_23i c.3559+287_3735+546del r.? p.(Asp1187Glyfs*21) Maternal (confirmed) - pathogenic (recessive) g.145657138_145658700del g.144431755_144433317del ex23 del - TONSL_000038 - Journal: Chang 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Fam1Pat1/2 Journal: Chang 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Korea, South (Republic) - - - - - 2 Johan den Dunnen
+/. - c.3589T>C r.(?) p.(Ser1197Pro) Parent #2 - pathogenic (recessive) g.145657814A>G g.144432431A>G - - TONSL_000005 - Journal: Burrage 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat3-1 Journal: Burrage 2019 2-generation family, 2 affected brothers M - - - - - - - 2 Johan den Dunnen
+/. - c.3589T>C r.(?) p.(Ser1197Pro) Parent #2 - pathogenic (recessive) g.145657814A>G g.144432431A>G - - TONSL_000005 - Journal: Burrage 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat3-2 Journal: Burrage 2019 - M - - - - - - - 1 Johan den Dunnen
?/. - c.3687C>T r.(?) p.(=) Unknown - VUS g.145657716G>A - TONSL(NM_013432.5):c.3687C>T (p.(Gly1229=)) - TONSL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3700del r.(?) p.(Asp1234Thrfs*17) Unknown - VUS g.145657704del - TONSL(NM_013432.4):c.3700delG (p.(Asp1234fs)) - TONSL_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3762C>G r.(?) p.(Thr1254=) Unknown - likely benign g.145656508G>C g.144431125G>C TONSL(NM_013432.5):c.3762C>G (p.T1254=) - TONSL_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3796dup r.(?) p.(Arg1266Lysfs*23) Parent #2 - pathogenic (recessive) g.145656474dup g.144431091dup 3796dupA - TONSL_000011 - Journal: Burrage 2019 - rs782733226 Germline - - - - - DNA SEQ, SEQ-NG - WES SEMDSP -Pat14 Journal: Burrage 2019 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.3809+8C>T r.(=) p.(=) Unknown - likely benign g.145656453G>A - TONSL(NM_013432.5):c.3809+8C>T - TONSL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3862G>C r.(?) p.(Glu1288Gln) Parent #2 - pathogenic (recessive) g.145655868C>G g.144430485C>G - - TONSL_000028 - Journal: Chang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat7 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
?/. - c.*5291G>A r.(=) p.(=) Unknown - VUS g.145649235C>T - VPS28(NM_016208.3):c.619G>A (p.D207N) - TONSL_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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