All variants in the TTC21B gene

Information The variants shown are described using the NM_024753.4 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
./. - c.-298339_*1152844del r.0? p.0? - pathogenic g.165578421_167108554del - - - COBLL1_000312 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-/. - c.-17C>T r.(?) p.(=) - benign g.166810232G>A g.165953722G>A TTC21B(NM_024753.4):c.-17C>T - TTC21B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 1 c.19_20insGCGGGTG r.(?) p.(Lys7Serfs*3) - likely pathogenic (recessive) g.166810196_166810197insCACCCGC - NM_024753.4:c.19_20insGCGGGTG - TTC21B_000085 - PubMed: Zhang-2019 - - Germline - - - 0 - LOVD
-/. - c.21+18_21+33dup r.(=) p.(=) - benign g.166810180_166810195dup g.165953670_165953685dup TTC21B(NM_024753.5):c.21+18_21+33dupTGAGCGGGTGAGCGGG - TTC21B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.21+26_21+33dup r.(=) p.(=) - benign g.166810188_166810195dup g.165953678_165953685dup TTC21B(NM_024753.5):c.21+26_21+33dupTGAGCGGG - TTC21B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.117C>G r.(?) p.(Phe39Leu) - likely benign g.166806139G>C - TTC21B(NM_024753.4):c.117C>G (p.(Phe39Leu)) - TTC21B_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 c.131C>A r.(?) p.(Ala44Asp) - pathogenic (recessive) g.166806125G>T - NM_024753.4:c.131C>A - TTC21B_000084 - PubMed: Zhang-2019 - - Germline - - - 0 - LOVD
-/. - c.151+32G>C r.(=) p.(=) - benign g.166806073C>G g.165949563C>G TTC21B(NM_024753.5):c.151+32G>C - TTC21B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.249G>T r.(?) p.(Met83Ile) - likely benign g.166805917C>A - TTC21B(NM_024753.4):c.249G>T (p.M83I) - TTC21B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.263-86A>C r.(=) p.(=) - benign g.166802286T>G g.165945776T>G TTC21B(NM_024753.5):c.263-86A>C - TTC21B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.308G>A r.(?) p.(Arg103His) - VUS g.166802155C>T g.165945645C>T TTC21B(NM_024753.4):c.308G>A (p.R103H) - TTC21B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.430-52A>G r.(=) p.(=) - benign g.166799903T>C g.165943393T>C TTC21B(NM_024753.5):c.430-52A>G - TTC21B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 5 c.448T>C r.(?) p.(Trp150Arg) - pathogenic g.166799833A>G - c.448T/C - TTC21B_000066 - PubMed: Otto 2011 - - Germline - - - 0 - LOVD
-/. - c.601G>A r.(?) p.(Val201Met) - benign g.166797646C>T g.165941136C>T TTC21B(NM_024753.4):c.601G>A (p.V201M) - TTC21B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.626C>T r.(?) p.(Pro209Leu) - likely pathogenic g.166797621G>A g.165941111G>A TTC21B(NM_024753.4):c.626C>T (p.P209L), TTC21B(NM_024753.5):c.626C>T (p.P209L) - TTC21B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.626C>T r.(?) p.(Pro209Leu) - pathogenic g.166797621G>A g.165941111G>A - - TTC21B_000035 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140511594 Germline - 1/2793 individuals - 0 - Mohammed Faruq
+?/. - c.626C>T r.(?) p.? ACMG likely pathogenic g.166797621G>A - - - TTC21B_000035 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.626C>T r.(?) p.(Pro209Leu) - pathogenic g.166797621G>A - TTC21B(NM_024753.4):c.626C>T (p.P209L), TTC21B(NM_024753.5):c.626C>T (p.P209L) - TTC21B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 6 c.626C>T r.(?) p.(Pro209Leu) - pathogenic g.166797621G>A - c.626C/T - TTC21B_000035 - PubMed: Otto 2011 - - Germline - - - 0 - LOVD
+/. 6 c.626C>T r.(?) p.(Pro209Leu) - pathogenic g.166797621G>A - c.626C/T - TTC21B_000035 - PubMed: Otto 2011 - - Germline - - - 0 - LOVD
+/. - c.626C>T r.(?) p.(Pro209Leu) - pathogenic g.166797621G>A - TTC21B(NM_024753.4):c.626C>T (p.P209L), TTC21B(NM_024753.5):c.626C>T (p.P209L) - TTC21B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.626C>T r.(?) p.(Pro209Leu) - pathogenic (recessive) g.166797621G>A - - - TTC21B_000035 - - - - Germline - - - 0 - Martina Marangoni
-/. - c.665A>T r.(?) p.(Gln222Leu) - benign g.166797582T>A g.165941072T>A TTC21B(NM_024753.4):c.665A>T (p.(Gln222Leu)), TTC21B(NM_024753.5):c.665A>T (p.Q222L) - TTC21B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.665A>T r.(?) p.(Gln222Leu) - likely benign g.166797582T>A - TTC21B(NM_024753.4):c.665A>T (p.(Gln222Leu)), TTC21B(NM_024753.5):c.665A>T (p.Q222L) - TTC21B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 6 c.703G>C r.(?) p.(Ala235Pro) - pathogenic (recessive) g.166797544C>G - NM_024753.4:c.703G>C - TTC21B_000083 - PubMed: Zhang-2019 - - Germline - - - 0 - LOVD
?/. - c.711G>T r.(?) p.(Arg237Ser) - VUS g.166789567C>A g.165933057C>A TTC21B(NM_024753.4):c.711G>T (p.R237S) - TTC21B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.724G>A r.(?) p.(Asp242Asn) - benign g.166789554C>T g.165933044C>T TTC21B(NM_024753.4):c.724G>A (p.(Asp242Asn)), TTC21B(NM_024753.5):c.724G>A (p.D242N) - TTC21B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.724G>A r.(?) p.(Asp242Asn) - likely benign g.166789554C>T - TTC21B(NM_024753.4):c.724G>A (p.(Asp242Asn)), TTC21B(NM_024753.5):c.724G>A (p.D242N) - TTC21B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.826A>G r.(?) p.(Thr276Ala) - benign g.166788336T>C g.165931826T>C TTC21B(NM_024753.4):c.826A>G (p.T276A), TTC21B(NM_024753.5):c.826A>G (p.T276A) - TTC21B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.826A>G r.(?) p.(Thr276Ala) - benign g.166788336T>C g.165931826T>C TTC21B(NM_024753.4):c.826A>G (p.T276A), TTC21B(NM_024753.5):c.826A>G (p.T276A) - TTC21B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.838A>G r.(?) p.(Met280Val) - benign g.166788324T>C g.165931814T>C TTC21B(NM_024753.4):c.838A>G (p.(Met280Val)), TTC21B(NM_024753.5):c.838A>G (p.M280V) - TTC21B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.838A>G r.(?) p.(Met280Val) - likely benign g.166788324T>C - TTC21B(NM_024753.4):c.838A>G (p.(Met280Val)), TTC21B(NM_024753.5):c.838A>G (p.M280V) - TTC21B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.895T>C r.(?) p.(Cys299Arg) - likely pathogenic g.166775908A>G g.165919398A>G TTC21B(NM_024753.4):c.1552T>C(p.C518R)/c.895T>C(p.C299R) - TTC21B_000068 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 218 - 0 - LOVD
+/. - c.1088-1G>C r.spl p.? ACMG pathogenic g.166786258C>G - - - TTC21B_000057 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.1135C>T r.(?) p.(Gln379Ter) - pathogenic g.166786210G>A g.165929700G>A TTC21B(NM_024753.5):c.1135C>T (p.Q379*) - TTC21B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1162C>T r.(?) p.(Gln388*) - VUS g.166786183G>A g.165929673G>A TTC21B c.1162C>T, p.Gln388Ter - TTC21B_000076 unsolved PubMed: Zampaglione-2020 - - Unknown ? - - 0 - LOVD
+/. - c.1174_1184del r.spl? p.? - likely pathogenic (recessive) g.166786161_166786171del g.165929651_165929661del NM_024753.4:c.1176_1185+1del:p.(Lys393Asnfs*2) - TTC21B_000060 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD
+/. 11 c.1320del r.(?) p.(Phe440Leufs*4) - pathogenic (recessive) g.166785711del - NM_024753.4:c.1320delT - TTC21B_000082 - PubMed: Zhang-2019 - - Germline - - - 0 - LOVD
-/. - c.1387-55dup r.(=) p.(=) - benign g.166781246dup g.165924736dup TTC21B(NM_024753.5):c.1387-55dupT - TTC21B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1387C>T r.(?) p.(Pro463Ser) - benign g.166781188G>A g.165924678G>A TTC21B(NM_024753.5):c.1387C>T (p.P463S) - TTC21B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 12 c.1397C>A r.(?) p.(Pro466His) - pathogenic (recessive) g.166781178G>T - NM_024753.4:c.1397C>A - TTC21B_000081 - PubMed: Zhang-2019 - - Germline - - - 0 - LOVD
-?/. - c.1417C>T r.(?) p.(Leu473Phe) - likely benign g.166781158G>A g.165924648G>A TTC21B(NM_024753.4):c.1417C>T (p.L473F, p.(Leu473Phe)) - TTC21B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1417C>T r.(?) p.(Leu473Phe) - likely benign g.166781158G>A g.165924648G>A TTC21B(NM_024753.4):c.1417C>T (p.L473F, p.(Leu473Phe)) - TTC21B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 12 c.1495G>A r.(?) p.(Ala499Thr) - pathogenic (recessive) g.166781080C>T - NM_024753.4:c.1495G>A - TTC21B_000080 - PubMed: Zhang-2019 - - Germline - - - 0 - LOVD
-?/. - c.1517-5A>C r.spl? p.? - likely benign g.166775948T>G g.165919438T>G TTC21B(NM_024753.4):c.1517-5A>C - TTC21B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1552T>C r.(?) p.(Cys518Arg) - likely pathogenic g.166786874A>G g.165930364A>G TTC21B(NM_024753.4):c.1552T>C(p.C518R)/c.895T>C(p.C299R) - TTC21B_000067 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 218 - 0 - LOVD
+?/. - c.1552T>C r.(?) p.(Cys518Arg) - likely pathogenic g.166773769G>A g.165917259G>A TTC21B(NM_024753.4):c.1897C>T(p.Q633* )/c.1552T>C(p.C518R ) - TTC21B_000067 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 232 - 0 - LOVD
-?/. - c.1578T>C r.(?) p.(Ala526=) - likely benign g.166775882A>G g.165919372A>G TTC21B(NM_024753.4):c.1578T>C (p.A526=) - TTC21B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 13 c.1654-7delTGTC r.spl? p.? - pathogenic g.166775813delGACA - c.1654e7delTGTC - TTC21B_000065 - PubMed: Otto 2011 - - Germline - - - 0 - LOVD
+/. - c.1656_1659del r.(?) p.(Cys552*) - pathogenic g.166775803_166775806del - TTC21B(NM_024753.4):c.1656_1659delTCTG (p.C552*) - TTC21B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1675-97T>C r.(=) p.(=) - benign g.166774088A>G g.165917578A>G TTC21B(NM_024753.5):c.1675-97T>C - TTC21B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1695C>T r.(?) p.(Tyr565=) - benign g.166773971G>A g.165917461G>A TTC21B(NM_024753.4):c.1695C>T (p.Y565=), TTC21B(NM_024753.5):c.1695C>T (p.Y565=) - TTC21B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1695C>T r.(?) p.(Tyr565=) - benign g.166773971G>A g.165917461G>A TTC21B(NM_024753.4):c.1695C>T (p.Y565=), TTC21B(NM_024753.5):c.1695C>T (p.Y565=) - TTC21B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1816G>A r.(?) p.(Asp606Asn) - likely benign g.166773850C>T - TTC21B(NM_024753.4):c.1816G>A (p.(Asp606Asn)) - TTC21B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1846C>T r.(?) p.(Arg616Cys) - VUS g.166773820G>A g.165917310G>A TTC21B(NM_024753.4):c.1846C>T (p.R616C), TTC21B(NM_024753.5):c.1846C>T (p.R616C) - TTC21B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1846C>T r.(?) p.(Arg616Cys) - likely benign g.166773820G>A - TTC21B(NM_024753.4):c.1846C>T (p.R616C), TTC21B(NM_024753.5):c.1846C>T (p.R616C) - TTC21B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 14 c.1846C>T r.(?) p.(Arg616Cys) - VUS g.166773820G>A - TTC21B/NPHP12:p.[R616C];[=] - TTC21B_000017 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - 0 - LOVD
-/. - c.1870A>G r.(?) p.(Ile624Val) - benign g.166773796T>C g.165917286T>C TTC21B(NM_024753.4):c.1870A>G (p.I624V) - TTC21B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1897C>T r.(?) p.(Gln633*) - likely pathogenic g.166775908A>G g.165919398A>G TTC21B(NM_024753.4):c.1897C>T(p.Q633* )/c.1552T>C(p.C518R ) - TTC21B_000068 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 232 - 0 - LOVD
-?/. - c.1964G>A r.(?) p.(Arg655Gln) - likely benign g.166771885C>T g.165915375C>T TTC21B(NM_024753.4):c.1964G>A (p.(Arg655Gln)) - TTC21B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 15 c.2014C>T r.(?) p.(Arg672Trp) - likely pathogenic (recessive) g.166771835G>A - NM_024753.4:c.2014C>T - TTC21B_000079 - PubMed: Zhang-2019 - - Germline - - - 0 - LOVD
?/. 15 c.2138G>T r.(?) p.(Arg713Ile) - VUS g.166771711C>A - TTC21B/NPHP12:p.[R713I]; - TTC21B_000074 - PubMed: Redin-2012 - - Germline - - - 0 - LOVD
-/. - c.2175T>C r.(?) p.(Phe725=) - benign g.166770120A>G g.165913610A>G TTC21B(NM_024753.4):c.2175T>C (p.F725=), TTC21B(NM_024753.5):c.2175T>C (p.F725=) - TTC21B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2175T>C r.(?) p.(Phe725=) - benign g.166770120A>G g.165913610A>G TTC21B(NM_024753.4):c.2175T>C (p.F725=), TTC21B(NM_024753.5):c.2175T>C (p.F725=) - TTC21B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2211+13A>G r.(=) p.(=) - benign g.166770071T>C g.165913561T>C TTC21B(NM_024753.4):c.2211+13A>G, TTC21B(NM_024753.5):c.2211+13A>G - TTC21B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2211+13A>G r.(=) p.(=) - benign g.166770071T>C g.165913561T>C TTC21B(NM_024753.4):c.2211+13A>G, TTC21B(NM_024753.5):c.2211+13A>G - TTC21B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2258C>T r.(?) p.(Pro753Leu) - likely benign g.166769088G>A g.165912578G>A TTC21B(NM_024753.4):c.2258C>T (p.P753L, p.(Pro753Leu)) - TTC21B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2258C>T r.(?) p.(Pro753Leu) - likely benign g.166769088G>A g.165912578G>A TTC21B(NM_024753.4):c.2258C>T (p.P753L, p.(Pro753Leu)) - TTC21B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 17 c.2258C>T r.(?) p.(Pro753Leu) - pathogenic g.166769088G>A - c.2258C/T - TTC21B_000014 - PubMed: Otto 2011 - - Germline - - - 0 - LOVD
-/. - c.2322+3A>G r.spl? p.? - benign g.166769021T>C g.165912511T>C TTC21B(NM_024753.4):c.2322+3A>G (p.?), TTC21B(NM_024753.5):c.2322+3A>G - TTC21B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2322+3A>G r.spl? p.? - likely benign g.166769021T>C g.165912511T>C TTC21B(NM_024753.4):c.2322+3A>G (p.?), TTC21B(NM_024753.5):c.2322+3A>G - TTC21B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2322+3A>G r.spl? p.? - likely benign g.166769021T>C g.165912511T>C - - TTC21B_000013 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.018 - 0 - Global Variome, with Curator vacancy
-?/. - c.2385G>C r.(?) p.(Leu795=) - likely benign g.166767913C>G g.165911403C>G TTC21B(NM_024753.4):c.2385G>C (p.L795=) - TTC21B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2472G>A r.(?) p.(Leu824=) - benign g.166764284C>T g.165907774C>T TTC21B(NM_024753.5):c.2472G>A (p.L824=) - TTC21B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.2500C>T r.(?) p.(Gln834Ter) - pathogenic g.166764256G>A g.165907746G>A TTC21B(NM_024753.5):c.2500C>T (p.Q834*) - TTC21B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.2500C>T r.(?) p.(Gln834*) - pathogenic g.166764256G>A g.165907746G>A - - TTC21B_000010 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79746977 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 19 c.2500C>T r.(?) p.(Gln834*) - pathogenic (recessive) g.166764256G>A - NM_024753.4:c.2500C>T - TTC21B_000010 - PubMed: Zhang-2019 - - Germline - - - 0 - LOVD
-/. - c.2569-28del r.(=) p.(=) - benign g.166758459del g.165901949del TTC21B(NM_024753.5):c.2569-28delT - TTC21B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2569-5dup r.spl? p.? - likely benign g.166758430dup - TTC21B(NM_024753.4):c.2569-5dup (p.?) - TTC21B_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2569-3dup r.spl? p.? - benign g.166758423dup g.165901913dup TTC21B(NM_024753.5):c.2569-3dupT - TTC21B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2587C>T r.(?) p.(Arg863Trp) - VUS g.166758402G>A g.165901892G>A TTC21B(NM_024753.4):c.2587C>T (p.(Arg863Trp)), TTC21B(NM_024753.5):c.2587C>T (p.R863W) - TTC21B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2587C>T r.(?) p.(Arg863Trp) - VUS g.166758402G>A g.165901892G>A TTC21B(NM_024753.4):c.2587C>T (p.(Arg863Trp)), TTC21B(NM_024753.5):c.2587C>T (p.R863W) - TTC21B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 20 c.2587C>T r.(?) p.(Arg863Trp) - VUS g.166758402G>A - c.[2587C>T];[=] - TTC21B_000040 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - 0 - LOVD
+/. 20 c.2588G>A r.(?) p.(Arg863Gln) - pathogenic g.166758401C>T - c.2588G/A - TTC21B_000064 - PubMed: Otto 2011 - - Germline - - - 0 - LOVD
-?/. - c.2600G>A r.(?) p.(Arg867His) - likely benign g.166758389C>T - TTC21B(NM_024753.5):c.2600G>A (p.R867H) - TTC21B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 20 c.2693G>A r.(?) p.(Arg898Gln) - likely pathogenic (recessive) g.166758296C>T - NM_024753.4:c.2693G>A - TTC21B_000078 - PubMed: Zhang-2019 - - Germline - - - 0 - LOVD
-?/. - c.2742C>T r.(?) p.(Cys914=) - likely benign g.166758247G>A g.165901737G>A TTC21B(NM_024753.4):c.2742C>T (p.C914=) - TTC21B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2758-91G>A r.(=) p.(=) - likely benign g.166756481C>T g.165899971C>T TTC21B(NM_024753.5):c.2758-91G>A - TTC21B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 20i c.2758-2A>G r.spl? p.? - pathogenic g.166756392T>C - c.2758e2A/G - TTC21B_000063 - PubMed: Otto 2011 - - Germline - - - 0 - LOVD
+/. - c.2776C>T r.(?) p.(Arg926Ter) - pathogenic g.166756372G>A g.165899862G>A TTC21B(NM_024753.4):c.2776C>T (p.R926*) - TTC21B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2854G>A r.(?) p.(Glu952Lys) - VUS g.166756294C>T g.165899784C>T TTC21B(NM_024753.4):c.2854G>A (p.(Glu952Lys)) - TTC21B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2868+1G>T r.spl p.(?) - VUS g.166756279C>A g.165899769C>A TTC21B c.2868+1G>T - TTC21B_000075 unsolved PubMed: Zampaglione-2020 - - Unknown ? - - 0 - LOVD
?/. - c.2895A>T r.(?) p.(Lys965Asn) - VUS g.166755251T>A - TTC21B(NM_024753.4):c.2895A>T (p.K965N) - TTC21B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2903A>G r.(?) p.(Tyr968Cys) - VUS g.166755243T>C g.165898733T>C - - TTC21B_000061 - PubMed: Kroes 2016 - - Germline - - - 0 - LOVD
?/. - c.3004C>G r.(?) p.(Leu1002Val) - VUS g.166747445G>C g.165890935G>C TTC21B(NM_024753.4):c.3004C>G (p.L1002V, p.(Leu1002Val)), TTC21B(NM_024753.5):c.3004C>G (p.L1002V) - TTC21B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3004C>G r.(?) p.(Leu1002Val) - likely benign g.166747445G>C g.165890935G>C TTC21B(NM_024753.4):c.3004C>G (p.L1002V, p.(Leu1002Val)), TTC21B(NM_024753.5):c.3004C>G (p.L1002V) - TTC21B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3004C>G r.(?) p.(Leu1002Val) - likely benign g.166747445G>C - TTC21B(NM_024753.4):c.3004C>G (p.L1002V, p.(Leu1002Val)), TTC21B(NM_024753.5):c.3004C>G (p.L1002V) - TTC21B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 23 c.3004C>G r.(?) p.(Leu1002Val) - pathogenic g.166747445G>C - c.3004C/G - TTC21B_000037 - PubMed: Otto 2011 - - Germline - - - 0 - LOVD
?/. - c.3196A>T r.(?) p.(Ile1066Phe) - VUS g.166747056T>A g.165890546T>A TTC21B(NM_024753.4):c.3196A>T (p.(Ile1066Phe)) - TTC21B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3256G>T r.(?) p.(Asp1086Tyr) - VUS g.166746996C>A g.165890486C>A - - TTC21B_000052 - PubMed: Kiselev 2019 - - Germline - - - 0 - Johan den Dunnen
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