All variants in the TTLL5 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_015072.4 transcript reference sequence.

182 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.? r.spl p.(?) - likely pathogenic g.? g.? TTLL5 Multi-exons (16-26) deletion - SERPINA1_000009 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - LOVD
?/. 2 c.25C>G r.(?) p.(Leu9Val) ACMG VUS g.76129517C>G g.75663174C>G - - TTLL5_000122 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
-?/. - c.36A>G r.(?) p.(Thr12=) - likely benign g.76129528A>G g.75663185A>G TTLL5(NM_015072.4):c.36A>G (p.T12=) - TTLL5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.92T>C r.(?) p.(Met31Thr) - likely benign g.76135776T>C g.75669433T>C TTLL5(NM_015072.4):c.92T>C (p.M31T) - TTLL5_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.94T>A r.(?) p.(Trp32Arg) - VUS g.76135778T>A g.75669435T>A TTLL5 c.94T>A, p.Trp32Arg - TTLL5_000097 heterozygous, causality unknown PubMed: Thorsteinsson 2021 - - Unknown ? - - - - LOVD
?/. - c.143C>A r.(?) p.(Ala48Asp) - VUS g.76135827C>A g.75669484C>A TTLL5 c.143C>A, p.Ala48Asp - TTLL5_000098 heterozygous, causality unknown PubMed: Thorsteinsson 2021 - - Unknown ? - - - - LOVD
+?/. - c.181+1G>A r.spl p.? ACMG likely pathogenic (recessive) g.76135866G>A g.75669523G>A - - TTLL5_000117 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
+/. 3i c.182-3_182-1delinsAA r.spl? p.? - pathogenic g.76147885_76147887delinsAA - c.182-3_182-1delinsAA - TTLL5_000105 - PubMed: Dias-2017 - - Germline yes - - - - LOVD
?/. - c.185G>T r.(?) p.(Arg62Leu) - VUS g.76147891G>T g.75681548G>T TTLL5(NM_015072.5):c.185G>T (p.R62L) - TTLL5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.211C>T r.(?) p.(Arg71*) - pathogenic g.76147917C>T g.75681574C>T TTLL5 c.211C>T, p.Arg71Ter - TTLL5_000092 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - LOVD
+?/. - c.211C>T r.(?) p.(Arg71*) - likely pathogenic g.76147917C>T g.75681574C>T TTLL5, variant 1: c.211C>T/p.R71*, variant 2 :1627G>A/p.E543K - TTLL5_000092 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+/. 4 c.211C>T r.(?) p.(Arg71Ter) ACMG pathogenic g.76147917C>T g.75681574C>T - - TTLL5_000092 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
+?/. - c.260_261dup r.(?) p.(Glu88Metfs*12) - likely pathogenic g.76147966_76147967dup g.75681623_75681624dup c.260_261dup, p.Glu88MetfsTer12 - TTLL5_000093 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - LOVD
?/. 5 c.274A>G r.(?) p.(Ser92Gly) ACMG VUS g.76149902A>G g.75683559A>G - - TTLL5_000123 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
?/. - c.297G>A r.(?) p.(Met99Ile) - VUS g.76149925G>A g.75683582G>A TTLL5(NM_015072.4):c.297G>A (p.M99I) - TTLL5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.349C>T r.(?) p.(Gln117*) - pathogenic g.76149977C>T - c.349C>T; p.Gln117* - TTLL5_000106 - PubMed: Bedoni-2016 - - Germline - - - - - LOVD
-/. - c.375T>A r.(?) p.(Ser125=) - benign g.76156538T>A g.75690195T>A TTLL5(NM_015072.5):c.375T>A (p.S125=) - TTLL5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.377A>C r.(?) p.(Tyr126Ser) - VUS g.76156540A>C g.75690197A>C TTLL5(NM_015072.4):c.377A>C (p.Y126S) - TTLL5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 6 c.401del r.(?) p.(Leu134Argfs*45) - pathogenic g.76156564del g.75690221del 401delT - TTLL5_000003 - PubMed: Sergouniotis 2014 - - Germline yes 1/28 patients - - - Marianne Vos (LOVD-team)
-?/. - c.513G>A r.(?) p.(Ser171=) - likely benign g.76165541G>A g.75699198G>A TTLL5(NM_015072.4):c.513G>A (p.S171=) - TTLL5_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.562C>T r.(?) p.(Arg188Trp) - VUS g.76165590C>T - TTLL5(NM_015072.5):c.562C>T (p.R188W) - TTLL5_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.568G>A r.(?) p.(Val190Ile) - VUS g.76165596G>A - - - TTLL5_000077 - PubMed: Hamada 2018 - - Germline - - - - - Johan den Dunnen
-/. - c.585+10C>G r.(=) p.(=) - benign g.76165623C>G g.75699280C>G TTLL5(NM_015072.5):c.585+10C>G - TTLL5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. i7 c.585+1089C>T r.? p.? - likely benign g.76166702C>T g.75700359C>T - - TTLL5_000084 - PubMed: Fadaie 2021 - - Germline - - - - - Zeinab Fadaie
?/. - c.587C>T r.(?) p.(Pro196Leu) - VUS g.76173362C>T - TTLL5(NM_015072.4):c.587C>T (p.P196L) - TTLL5_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.609G>C r.(?) p.(Glu203Asp) - likely benign g.76173384G>C g.75707041G>C TTLL5(NM_015072.5):c.609G>C (p.E203D) - TTLL5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 8 c.617del r.(?) p.(Leu206TrpfsTer12) ACMG likely pathogenic g.76173392del g.75707049del - - TTLL5_000124 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
-/. - c.624C>A r.(?) p.(Ser208=) - benign g.76173399C>A g.75707056C>A TTLL5(NM_015072.5):c.624C>A (p.S208=) - TTLL5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.625C>T r.(?) p.(Arg209Cys) - VUS g.76173400C>T g.75707057C>T TTLL5 c.625C>T, p.Arg209Cys - TTLL5_000099 heterozygous, causality unknown PubMed: Thorsteinsson 2021 - - Unknown ? - - - - LOVD
?/. 8 c.625C>T r.(?) p.(Arg209Cys) ACMG VUS g.76173400C>T g.75707057C>T - - TTLL5_000099 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
+?/. - c.630C>A r.(?) p.(Tyr210*) - likely pathogenic g.76173405C>A g.75707062C>A TTLL5, variant 1: c.630C>A/p.Y210*, variant 2: c.630C>A/p.Y210* - TTLL5_000094 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
-/. - c.656-3del r.spl? p.? - benign g.76173963del g.75707620del TTLL5(NM_015072.5):c.656-3del, TTLL5(NM_015072.5):c.656-3delT - TTLL5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.656-3del r.spl? p.? - likely benign g.76173963del - TTLL5(NM_015072.5):c.656-3del, TTLL5(NM_015072.5):c.656-3delT - TTLL5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.656-3dup r.spl? p.? - benign g.76173963dup g.75707620dup TTLL5(NM_015072.5):c.656-3dupT - TTLL5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.670G>A r.(?) p.(Val224Met) - VUS g.76173980G>A g.75707637G>A TTLL5(NM_015072.4):c.670G>A (p.V224M), TTLL5(NM_015072.5):c.670G>A (p.V224M) - TTLL5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.670G>A r.(?) p.(Val224Met) - VUS g.76173980G>A g.75707637G>A TTLL5(NM_015072.4):c.670G>A (p.V224M), TTLL5(NM_015072.5):c.670G>A (p.V224M) - TTLL5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.741-1G>A r.spl? p.? - VUS g.76184203G>A - TTLL5(NM_015072.5):c.741-1G>A - TTLL5_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.(740+1_741-1)_(1281+1_1282-1)del r.spl p.(?) - likely pathogenic g.? g.? TTLL5, variant 1 :Deletion exon 10-15, variant 2 :Deletion exon 10-15 - SERPINA1_000009 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/. 10 c.742_842del r.(?) p.(Phe248LeufsTer2) ACMG likely pathogenic g.76184205_76184305del g.75717862_75717962del - - TTLL5_000125 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
?/. - c.756A>G r.(?) p.(Arg252=) - VUS g.76184219A>G g.75717876A>G TTLL5(NM_015072.4):c.756A>G (p.R252=) - TTLL5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.781C>T r.(?) p.(Arg261Trp) - likely benign g.76184244C>T - TTLL5(NM_015072.4):c.781C>T (p.R261W) - TTLL5_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.824A>G r.(?) p.(Lys275Arg) - VUS g.76184287A>G g.75717944A>G TTLL5(NM_015072.5):c.824A>G (p.K275R) - TTLL5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.934+10G>A r.(=) p.(=) - benign g.76186179G>A g.75719836G>A TTLL5(NM_015072.5):c.934+10G>A - TTLL5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.986A>G r.(?) p.(Glu329Gly) - VUS g.76186990A>G g.75720647A>G TTLL5(NM_015072.5):c.986A>G (p.E329G) - TTLL5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1060G>A r.(?) p.(Val354Met) - VUS g.76198698G>A g.75732355G>A TTLL5(NM_015072.5):c.1060G>A (p.V354M) - TTLL5_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1103A>C r.(?) p.(Asn368Thr) ACMG VUS g.76198741A>C g.75732398A>C TTLL5 c.1103A>C(;)3177_3180del, V1: c.1103A>C, (p.Asn368Thr) - TTLL5_000100 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - LOVD
?/. - c.1103A>C r.(?) p.(Asn368Thr) - VUS g.76198741A>C g.75732398A>C TTLL5 c.1103A>C(;)3177_3180del; p.(Asn368Thr) - TTLL5_000100 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398 - - - LOVD
+/. - c.1110_1111del r.(?) p.(Pro371Phefs*5) - pathogenic g.76198748_76198749del - TTLL5(NM_015072.5):c.1110_1111delTC (p.P371Ffs*5) - TTLL5_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1124+14A>G r.(=) p.(=) - likely benign g.76198776A>G - TTLL5(NM_015072.5):c.1124+14A>G - TTLL5_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1186+14T>G r.(=) p.(=) - benign g.76200407T>G g.75734064T>G TTLL5(NM_015072.5):c.1186+14T>G - TTLL5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1187-8C>T r.(=) p.(=) - likely benign g.76201530C>T g.75735187C>T TTLL5(NM_015072.4):c.1187-8C>T, TTLL5(NM_015072.5):c.1187-8C>T - TTLL5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1187-8C>T r.(=) p.(=) - VUS g.76201530C>T - TTLL5(NM_015072.4):c.1187-8C>T, TTLL5(NM_015072.5):c.1187-8C>T - TTLL5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1187-7C>G r.(=) p.(=) - likely benign g.76201531C>G g.75735188C>G TTLL5(NM_015072.4):c.1187-7C>G, TTLL5(NM_015072.5):c.1187-7C>G - TTLL5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1187-7C>G r.(=) p.(=) - VUS g.76201531C>G - TTLL5(NM_015072.4):c.1187-7C>G, TTLL5(NM_015072.5):c.1187-7C>G - TTLL5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1226G>A r.(?) p.(Arg409Gln) - VUS g.76201577G>A g.75735234G>A TTLL5(NM_015072.4):c.1226G>A (p.R409Q), TTLL5(NM_015072.5):c.1226G>A (p.R409Q) - TTLL5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1226G>A r.(?) p.(Arg409Gln) - likely benign g.76201577G>A g.75735234G>A TTLL5(NM_015072.4):c.1226G>A (p.R409Q), TTLL5(NM_015072.5):c.1226G>A (p.R409Q) - TTLL5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1226G>A r.(?) p.(Arg409Gln) - VUS g.76201577G>A g.75735234G>A TTLL5(NM_015072.4):c.1226G>A (p.R409Q), TTLL5(NM_015072.5):c.1226G>A (p.R409Q) - TTLL5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1255A>G r.(?) p.(Arg419Gly) - VUS g.76201606A>G g.75735263A>G TTLL5(NM_015072.4):c.1255A>G (p.R419G) - TTLL5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1289G>A r.(?) p.(Arg430His) - VUS g.76211445G>A - TTLL5(NM_015072.4):c.1289G>A (p.R430H) - TTLL5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 16 c.1310C>T r.(?) p.(Ala437Val) ACMG VUS g.76211466C>T g.75745123C>T - - TTLL5_000126 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
+/. - c.1312G>T r.(?) p.(Glu438*) - pathogenic g.76211468G>T - TTLL5(NM_015072.4):c.1312G>T (p.E438*) - TTLL5_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1326C>T r.(?) p.(Leu442=) - benign g.76211482C>T g.75745139C>T TTLL5(NM_015072.4):c.1326C>T (p.L442=), TTLL5(NM_015072.5):c.1326C>T (p.L442=) - TTLL5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1326C>T r.(?) p.(Leu442=) - likely benign g.76211482C>T g.75745139C>T TTLL5(NM_015072.4):c.1326C>T (p.L442=), TTLL5(NM_015072.5):c.1326C>T (p.L442=) - TTLL5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1327G>A r.(?) p.(Val443Met) - VUS g.76211483G>A g.75745140G>A TTLL5(NM_015072.5):c.1327G>A (p.V443M) - TTLL5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1389G>T r.(?) p.(Met463Ile) - benign g.76211545G>T g.75745202G>T TTLL5(NM_015072.5):c.1389G>T (p.M463I) - TTLL5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1408C>T r.(?) p.(Arg470Ter) - likely pathogenic g.76211845C>T g.75745502C>T TTLL5(NM_015072.5):c.1408C>T (p.R470*) - TTLL5_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 17 c.1408C>T r.(?) p.(Arg470Ter) ACMG pathogenic g.76211845C>T g.75745502C>T - - TTLL5_000066 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
?/. 17 c.1432C>T r.(?) p.(Arg478Trp) ACMG VUS g.76211869C>T g.75745526C>T - - TTLL5_000127 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
+/. 17 c.1435C>T r.(?) p.(Arg479Ter) ACMG pathogenic g.76211872C>T g.75745529C>T - - TTLL5_000128 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
?/. - c.1450C>T r.(?) p.(Arg484Cys) ACMG VUS g.76211887C>T g.75745544C>T TTLL5 c.1450C>T, p.(Arg484Cys) - TTLL5_000113 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - LOVD
?/. 17 c.1450C>T r.(?) p.(Arg484Cys) ACMG VUS g.76211887C>T g.75745544C>T - - TTLL5_000113 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
?/. - c.1451G>T r.(?) p.(Arg484Leu) ACMG VUS g.76211888G>T g.75745545G>T TTLL5 c.G1451T, p.R484L - TTLL5_000096 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - LOVD
?/. - c.1462A>G r.(?) p.(Thr488Ala) - VUS g.76211899A>G - TTLL5(NM_015072.5):c.1462A>G (p.T488A) - TTLL5_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1487+1G>A r.spl? p.? - pathogenic g.76211925G>A g.75745582G>A - - TTLL5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1487+1G>A r.spl p.? - pathogenic g.76211925G>A g.75745582G>A - - TTLL5_000018 - PubMed: Haer-Wigman 2017 - - Germline - - - - - LOVD
+/. - c.1487+1G>A r.spl p.? - pathogenic g.76211925G>A g.75745582G>A - - TTLL5_000018 - PubMed: Haer-Wigman 2017 - - Germline - - - - - LOVD
-/. - c.1487+24dup r.(=) p.(=) - benign g.76211948dup g.75745605dup TTLL5(NM_015072.5):c.1487+24dupT - TTLL5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 18 c.1513A>G r.(?) p.(Met505Val) ACMG VUS g.76219261A>G g.75752918A>G - - TTLL5_000129 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
?/. - c.1529C>A r.(?) p.(Ala510Glu) - VUS g.76219277C>A - TTLL5(NM_015072.5):c.1529C>A (p.A510E) - TTLL5_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1560dup r.(?) p.(Asp521*) - likely pathogenic g.76230967dup g.75764624dup TTLL5, variant 1: c.1560dup/p.D521*, variant 2: c.1560dup/p.D521* - TTLL5_000095 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
-/. - c.1576T>C r.(?) p.(Leu526=) - benign g.76230983T>C g.75764640T>C TTLL5(NM_015072.5):c.1576T>C (p.L526=) - TTLL5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 19 c.1586_1589del r.(?) p.(Glu529Valfs*2) - pathogenic g.76230993_76230996del g.75764650_75764653del 1586_ 1589delAGAG - TTLL5_000002 - PubMed: Sergouniotis 2014 - - Germline yes 1/28 patients - - - Marianne Vos (LOVD-team)
+?/? 19 c.1627G>A r.(?) p.(Glu543Lys) - likely pathogenic g.76231034G>A g.75764691G>A - - TTLL5_000006 - PubMed: Sergouniotis 2014 - - Germline ? 1/55 cases - - - Marianne Vos (LOVD-team)
+?/. - c.1627G>A r.(?) p.(Glu543Lys) - likely pathogenic g.76231034G>A - - - TTLL5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1627G>A r.(?) p.(Glu543Lys) - likely pathogenic g.76231034G>A g.75764691G>A TTLL5, variant 1: c.211C>T/p.R71*, variant 2 :1627G>A/p.E543K - TTLL5_000006 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+/. 19 c.1627G>A r.(?) p.(Glu543Lys) - pathogenic g.76231034G>A - c.1627G>A; p.Glu543Lys - TTLL5_000006 - PubMed: Bedoni-2016 - - Germline - - - - - LOVD
+/. 19 c.1627G>A r.(?) p.(Glu543Lys) - pathogenic g.76231034G>A - c.1627G>A; p.Glu543Lys - TTLL5_000006 - PubMed: Bedoni-2016 - - Germline yes - - - - LOVD
+/. 19 c.1627G>A r.(?) p.(Glu543Lys) - pathogenic g.76231034G>A - c.1627G>A; p.Glu543Lys - TTLL5_000006 - PubMed: Bedoni-2016 - - Germline yes - - - - LOVD
+/. 19 c.1627G>A r.(?) p.(Glu543Lys) - pathogenic g.76231034G>A - c.1627G>A; p.Glu543Lys - TTLL5_000006 - PubMed: Bedoni-2016 - - Germline yes - - - - LOVD
+?/. 19 c.1627G>A r.(?) p.(Glu543Lys) ACMG likely pathogenic g.76231034G>A g.75764691G>A - - TTLL5_000006 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
+/? 19 c.1627G>T r.(?) p.(Glu543*) - pathogenic g.76231034G>T g.75764691G>T 1627G>T - TTLL5_000005 - PubMed: Sergouniotis 2014 - - Germline yes 2/63 patients - - - Marianne Vos (LOVD-team)
-?/. - c.1653G>A r.(?) p.(Val551=) - likely benign g.76231060G>A g.75764717G>A TTLL5(NM_015072.5):c.1653G>A (p.V551=) - TTLL5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1773C>G r.(?) p.(Val591=) - likely benign g.76232469C>G g.75766126C>G TTLL5(NM_015072.4):c.1773C>G (p.V591=) - TTLL5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1773C>T r.(?) p.(Val591=) - benign g.76232469C>T g.75766126C>T TTLL5(NM_015072.4):c.1773C>T (p.V591=), TTLL5(NM_015072.5):c.1773C>T (p.V591=) - TTLL5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1773C>T r.(?) p.(Val591=) - likely benign g.76232469C>T g.75766126C>T TTLL5(NM_015072.4):c.1773C>T (p.V591=), TTLL5(NM_015072.5):c.1773C>T (p.V591=) - TTLL5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1781A>G r.(?) p.(Asp594Gly) - likely benign g.76232477A>G g.75766134A>G TTLL5(NM_015072.4):c.1781A>G (p.D594G) - TTLL5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 20 c.1782del r.(?) p.(Asp594Glufs*29) - pathogenic g.76232478del - c.1782del; p.Asp594Glufs*29 - TTLL5_000107 - PubMed: Bedoni-2016 - - Germline - - - - - LOVD
?/. - c.1852T>C r.(?) p.(Tyr618His) - VUS g.76232548T>C g.75766205T>C TTLL5(NM_015072.4):c.1852T>C (p.Y618H) - TTLL5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1903A>G r.(?) p.(Met635Val) - VUS g.76232599A>G g.75766256A>G TTLL5(NM_015072.5):c.1903A>G (p.M635V) - TTLL5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1963C>T r.(?) p.(Leu655=) - likely benign g.76232659C>T g.75766316C>T TTLL5(NM_015072.4):c.1963C>T (p.L655=), TTLL5(NM_015072.5):c.1963C>T (p.L655=) - TTLL5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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