Full data view for gene TCTN2

Information The variants shown are described using the NM_024809.4 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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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     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
+/. - c.76del r.(?) p.(Asp26Thrfs*27) Parent #2 - pathogenic g.124155863del g.123671316del NM_024809.4:c.71delG - TCTN2_000036 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel JBTS UW144-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - 1 LOVD
+/. - c.76del r.(?) p.(Asp26Thrfs*27) Unknown - pathogenic g.124155863del - TCTN2(NM_024809.4):c.76delG (p.D26Tfs*27) - TCTN2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.76dup r.(?) p.(Asp26Glyfs*52) Both (homozygous) - pathogenic g.124155863dup g.123671316dup NM_024809.4:c.76dupG - TCTN2_000035 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel JBTS UW266-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - 1 LOVD
+/. 1 c.77dup r.(?) p.(Asp26Glufs*52) Both (homozygous) - pathogenic g.124155864dup g.123671317dup c.77insG (D26GfsX51) - TCTN2_000002 - PubMed: Sang 2011 - - Germline yes - - 0 - DNA SEQ - - JBTS1 - PubMed: Sang 2011 1 affected, unaffected heterozygous carrier parents M yes India India, east - 0 - - 1 Johan den Dunnen
-/. - c.83-4C>T r.spl? p.? Unknown - benign g.124156050C>T g.123671503C>T TCTN2(NM_024809.4):c.83-4C>T - TCTN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.92C>G r.(?) p.(Pro31Arg) Paternal (confirmed) - VUS g.124156063C>G - - - TCTN2_000046 - - - - Germline - - - - - DNA SEQ-NG - WES ? 024P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
-?/. - c.183C>T r.(?) p.(Asp61=) Unknown - likely benign g.124156154C>T g.123671607C>T TCTN2(NM_024809.4):c.183C>T (p.D61=) - TCTN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.202A>G r.(?) p.(Ile68Val) Unknown - likely benign g.124156614A>G - TCTN2(NM_024809.4):c.202A>G (p.I68V) - TCTN2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.225C>T r.(?) p.(Asn75=) Unknown - benign g.124156637C>T g.123672090C>T TCTN2(NM_024809.4):c.225C>T (p.N75=) - TCTN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.282G>C r.(?) p.(Val94=) Unknown - likely benign g.124158176G>C - TCTN2(NM_024809.4):c.282G>C (p.V94=) - TCTN2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304C>A r.(?) p.(Leu102Met) Unknown - VUS g.124158198C>A - TCTN2(NM_024809.4):c.304C>A (p.L102M) - TCTN2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.599G>A r.(?) p.(Arg200Gln) Unknown - likely benign g.124171417G>A g.123686870G>A TCTN2(NM_024809.4):c.599G>A (p.R200Q), TCTN2(NM_024809.5):c.599G>A (p.R200Q) - TCTN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.599G>A r.(?) p.(Arg200Gln) Unknown - likely benign g.124171417G>A g.123686870G>A TCTN2(NM_024809.4):c.599G>A (p.R200Q), TCTN2(NM_024809.5):c.599G>A (p.R200Q) - TCTN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.599G>A r.(?) p.(Arg200Gln) Parent #1 - likely benign g.124171417G>A g.123686870G>A - - TCTN2_000008 15 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79251326 Germline - 15/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 15 Mohammed Faruq
-?/. - c.599G>A r.(?) p.(Arg200Gln) Both (homozygous) - likely benign g.124171417G>A g.123686870G>A - - TCTN2_000008 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79251326 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.611C>T r.(?) p.(Thr204Ile) Unknown - likely benign g.124171429C>T - TCTN2(NM_024809.4):c.611C>T (p.T204I) - TCTN2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.613G>T r.(?) p.(Gly205Cys) Parent #2 - pathogenic g.124171431G>T g.123686884G>T NM_024809.4:c.613G>T - TCTN2_000037 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel JBTS UW212-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - 1 LOVD
-?/. - c.615C>T r.(?) p.(Gly205=) Unknown - likely benign g.124171433C>T g.123686886C>T TCTN2(NM_024809.4):c.615C>T (p.G205=), TCTN2(NM_024809.5):c.615C>T (p.G205=) - TCTN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615C>T r.(?) p.(Gly205=) Unknown - likely benign g.124171433C>T - TCTN2(NM_024809.4):c.615C>T (p.G205=), TCTN2(NM_024809.5):c.615C>T (p.G205=) - TCTN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Thr223Met) Unknown - VUS g.124171486C>T - TCTN2(NM_024809.4):c.668C>T (p.T223M) - TCTN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.669G>A r.(?) p.(Thr223=) Unknown - likely benign g.124171487G>A g.123686940G>A TCTN2(NM_024809.4):c.669G>A (p.T223=) - TCTN2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.671C>T r.(?) p.(Thr224Met) Unknown - VUS g.124171489C>T g.123686942C>T TCTN2(NM_024809.4):c.671C>T (p.T224M) - TCTN2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720C>G r.(?) p.(Pro240=) Unknown - likely benign g.124171538C>G - TCTN2(NM_024809.4):c.720C>G (p.P240=) - TCTN2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.776A>G r.(?) p.(Gln259Arg) Unknown - VUS g.124172609A>G g.123688062A>G TCTN2(NM_024809.4):c.776A>G (p.Q259R) - TCTN2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.800_801del r.(?) p.(Val267Glyfs*3) Unknown - likely pathogenic (recessive) g.124172633_124172634del g.123688086_123688087del - - TCTN2_000045 - - - - Germline - - - 0 - DNA SEQ-NG - WES ? 024P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
-?/. - c.810C>T r.(?) p.(Asp270=) Unknown - likely benign g.124172643C>T g.123688096C>T TCTN2(NM_024809.4):c.810C>T (p.D270=) - TCTN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.873A>G r.(?) p.(Ala291=) Unknown - benign g.124172706A>G g.123688159A>G TCTN2(NM_024809.4):c.873A>G (p.A291=) - TCTN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.891+7G>A r.(=) p.(=) Unknown - benign g.124172731G>A g.123688184G>A TCTN2(NM_024809.4):c.891+7G>A, TCTN2(NM_024809.5):c.891+7G>A - TCTN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.891+7G>A r.(=) p.(=) Unknown - benign g.124172731G>A g.123688184G>A TCTN2(NM_024809.4):c.891+7G>A, TCTN2(NM_024809.5):c.891+7G>A - TCTN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.898C>T r.(?) p.(Leu300=) Unknown - likely benign g.124175086C>T g.123690539C>T TCTN2(NM_024809.4):c.898C>T (p.L300=) - TCTN2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1015A>G r.(?) p.(Lys339Glu) Unknown - likely benign g.124175203A>G g.123690656A>G TCTN2(NM_001143850.2):c.1012A>G (p.(Lys338Glu)) - TCTN2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1043C>T r.(?) p.(Thr348Ile) Unknown - VUS g.124177214C>T - TCTN2(NM_024809.4):c.1043C>T (p.T348I) - TCTN2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1099+19T>C r.(=) p.(=) Unknown - benign g.124177289T>C g.123692742T>C TCTN2(NM_024809.4):c.1099+19T>C, TCTN2(NM_024809.5):c.1099+19T>C - TCTN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1099+19T>C r.(=) p.(=) Unknown - benign g.124177289T>C g.123692742T>C TCTN2(NM_024809.4):c.1099+19T>C, TCTN2(NM_024809.5):c.1099+19T>C - TCTN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1117G>A r.(?) p.(Gly373Arg) Parent #1 - pathogenic g.124179406G>A g.123694859G>A NM_024809.4:c.1117G>A - TCTN2_000038 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel JBTS UW144-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - 1 LOVD
-/. - c.1128T>C r.(?) p.(Pro376=) Unknown - benign g.124179417T>C g.123694870T>C TCTN2(NM_024809.4):c.1128T>C (p.P376=), TCTN2(NM_024809.5):c.1128T>C (p.P376=) - TCTN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1128T>C r.(?) p.(Pro376=) Unknown - benign g.124179417T>C g.123694870T>C TCTN2(NM_024809.4):c.1128T>C (p.P376=), TCTN2(NM_024809.5):c.1128T>C (p.P376=) - TCTN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1150C>T r.(?) p.(His384Tyr) Unknown - VUS g.124179439C>T - TCTN2(NM_024809.4):c.1150C>T (p.H384Y) - TCTN2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1234+3A>T r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.124179526A>T g.123694979A>T - - TCTN2_000027 has VUS in UNC45B PubMed: Helbig 2016 - - Germline - - - 0 - DNA SEQ-NG - WES seizures Pat99 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 10i c.1235-1G>A r.spl? p.? Both (homozygous) - pathogenic g.124179766G>A g.123695219G>A - - TCTN2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - JBTS1 - - - M yes Turkey - - 0 - - 1 Valeska Frank
+/. 10i c.1235-1G>A r.1235_1312del p.Ile413_Gly438del Both (homozygous) - pathogenic g.124179766G>A g.123695219G>A IVS10-1G>A - TCTN2_000001 homozygosity mapping; not in 352 control chromosomes PubMed: Sang 2011 - - Germline yes - - 0 - DNA, RNA arraySNP, RT-PCR, SEQ - - JBTS1 - PubMed: Sang 2011 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.1291G>T r.(?) p.(Glu431*) Both (homozygous) - pathogenic g.124179823G>T g.123695276G>T NM_024809.4:c.1291G>T - TCTN2_000039 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel JBTS UW228-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - 1 LOVD
+/. - c.1318C>T r.(?) p.(Gln440*) Unknown - pathogenic g.124180967C>T - TCTN2(NM_024809.4):c.1318C>T (p.Q440*) - TCTN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1363A>G r.(?) p.(Asn455Asp) Unknown - likely benign g.124181012A>G - TCTN2(NM_024809.4):c.1363A>G (p.N455D) - TCTN2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1393+7C>T r.(=) p.(=) Unknown - benign g.124181049C>T g.123696502C>T TCTN2(NM_024809.4):c.1393+7C>T, TCTN2(NM_024809.5):c.1393+7C>T - TCTN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1393+7C>T r.(=) p.(=) Unknown - benign g.124181049C>T g.123696502C>T TCTN2(NM_024809.4):c.1393+7C>T, TCTN2(NM_024809.5):c.1393+7C>T - TCTN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1505+3G>C r.spl? p.? Unknown - likely benign g.124181748G>C - TCTN2(NM_024809.5):c.1505+3G>C - TCTN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13i c.1506-2A>G r.spl p.? Parent #1 - pathogenic g.124184249A>G g.123699702A>G - - TCTN2_000004 no variant 2nd allele PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - JBTS - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/. 13i c.1506-2A>G r.spl? p.? Both (homozygous) - pathogenic g.124184249A>G g.123699702A>G - - TCTN2_000004 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/. 13i c.1506-2A>G r.spl? p.? Both (homozygous) - pathogenic g.124184249A>G g.123699702A>G - - TCTN2_000004 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/. 13i c.1506-2A>G r.spl? p.? Both (homozygous) - pathogenic g.124184249A>G g.123699702A>G - - TCTN2_000004 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/. - c.1506-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.124184249A>G g.123699702A>G - - TCTN2_000004 - PubMed: Shaheen 2013 - - Germline - - - 0 - DNA SEQ - WES MKS 23169490-FamMKS_F4 PubMed: Shaheen 2013 - - - Saudi Arabia - - 0 - - 1 Johan den Dunnen
+/. - c.1506-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.124184249A>G g.123699702A>G - - TCTN2_000004 - PubMed: Shaheen 2013 - - Germline - - - 0 - DNA SEQ - - MKS 23169490-FamMKS_F9 PubMed: Shaheen 2013 - - - Saudi Arabia - - 0 - - 1 Johan den Dunnen
+/. 13i c.1506-2A>G r.spl? p.? Unknown - pathogenic g.124184249A>G - c.1506-2A>G (p.?) - TCTN2_000004 - PubMed: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - 1 LOVD
+/. 13i c.1506-2A>G r.spl? p.? Unknown - pathogenic g.124184249A>G - c.1506-2A>G (p.?) - TCTN2_000004 - PubMed: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - 1 LOVD
+/. 13i c.1506-2A>G r.spl? p.? Unknown - pathogenic g.124184249A>G - c.1506-2A>G (p.?) - TCTN2_000004 - PubMed: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - 1 LOVD
+/. 13i c.1506-2A>G r.spl? p.? Unknown - pathogenic g.124184249A>G - c.1506-2A>G (p.?) - TCTN2_000004 - PubMed: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - 1 LOVD
+/. 13i c.1506-2A>G r.spl? p.? Unknown - pathogenic g.124184249A>G - c.1506-2A>G (p.?) - TCTN2_000004 - PubMed: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - 1 LOVD
+/. 13i c.1506-2A>G r.spl? p.? Unknown - pathogenic g.124184249A>G - c.1506-2A>G (p.?) - TCTN2_000004 - PubMed: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - 1 LOVD
+/. 13i c.1506-2A>G r.spl? p.? Unknown - pathogenic g.124184249A>G - c.1506-2A>G (p.?) - TCTN2_000004 - PubMed: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - 1 LOVD
-?/. - c.1579G>A r.(?) p.(Ala527Thr) Unknown - likely benign g.124184324G>A g.123699777G>A TCTN2(NM_024809.4):c.1579G>A (p.A527T) - TCTN2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1602C>T r.(?) p.(Leu534=) Unknown - likely benign g.124184347C>T g.123699800C>T TCTN2(NM_024809.4):c.1602C>T (p.L534=) - TCTN2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1612+12C>T r.(=) p.(=) Parent #1 - benign g.124184369C>T g.123699822C>T - - TCTN2_000026 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117614122 Germline - 24/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 24 Mohammed Faruq
+/. - c.1626del r.(?) p.(Asp543Ilefs*11) Parent #1 - pathogenic g.124189092del g.123704545del NM_024809.4:c.1626delT - TCTN2_000040 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel JBTS UW212-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - 1 LOVD
-?/. - c.1643C>T r.(?) p.(Pro548Leu) Unknown - likely benign g.124189109C>T g.123704562C>T TCTN2(NM_024809.4):c.1643C>T (p.P548L) - TCTN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1751T>A r.(?) p.(Ile584Lys) Both (homozygous) - pathogenic g.124189217T>A g.123704670T>A NM_024809.4:c.1751T>A - TCTN2_000041 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel JBTS UW225-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - 1 LOVD
+/. - c.1751T>A r.(?) p.(Ile584Lys) Both (homozygous) - pathogenic g.124189217T>A g.123704670T>A NM_024809.4:c.1751T>A - TCTN2_000041 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel JBTS UW225-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - 1 LOVD
+/. - c.1751T>A r.(?) p.(Ile584Lys) Both (homozygous) - pathogenic g.124189217T>A g.123704670T>A NM_024809.4:c.1751T>A - TCTN2_000041 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel JBTS UW225-8 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - 1 LOVD
-?/. - c.1848C>T r.(?) p.(Ser616=) Unknown - likely benign g.124191351C>T - TCTN2(NM_024809.4):c.1848C>T (p.S616=) - TCTN2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.1873C>T r.(?) p.(Gln625*) Both (homozygous) - pathogenic g.124191376C>T g.123706829C>T C1873T - TCTN2_000003 - PubMed: Sang 2011 - - Germline yes - - 0 - DNA SEQ - - JBTS1 - PubMed: Sang 2011 famiy, 4 affected siblings, unaffected heterozygous carrier parents - yes Pakistan - - 0 - - 4 Johan den Dunnen
-?/. - c.2041T>C r.(?) p.(Leu681=) Unknown - likely benign g.124192207T>C g.123707660T>C TCTN2(NM_024809.4):c.2041T>C (p.L681=) - TCTN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*4839C>T r.(=) p.(=) Unknown - benign g.124197099C>T g.123712552C>T ATP6V0A2(NM_012463.3):c.-14C>T, ATP6V0A2(NM_012463.4):c.-14C>T - ATP6V0A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4839C>T r.(=) p.(=) Unknown - benign g.124197099C>T g.123712552C>T ATP6V0A2(NM_012463.3):c.-14C>T, ATP6V0A2(NM_012463.4):c.-14C>T - ATP6V0A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4839C>T r.(=) p.(=) Unknown - benign g.124197099C>T g.123712552C>T ATP6V0A2(NM_012463.3):c.-14C>T, ATP6V0A2(NM_012463.4):c.-14C>T - ATP6V0A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4854T>C r.(=) p.(=) Unknown - likely pathogenic g.124197114T>C g.123712567T>C - - ATP6V0A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*4878C>T r.(=) p.(=) Unknown - VUS g.124197138C>T g.123712591C>T ATP6V0A2(NM_012463.4):c.26C>T (p.T9I) - ATP6V0A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*4983G>A r.(=) p.(=) Unknown - benign g.124197243G>A g.123712696G>A ATP6V0A2(NM_012463.3):c.117+14G>A - ATP6V0A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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