Unique variants in the TMC1 gene


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_138691.2 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
+/+, -/-, -/. 3 1 c.-468G>A r.(?) p.(=) - - benign, pathogenic g.75136789G>A g.72521873G>A - - TMC1_000055, TMC1_000087 homozygous, VKGL data sharing initiative Nederland PubMed: Davoudi-dehaghani 2013 - rs7022441 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Anne-Françoise Roux
-/- 2 2i c.-305-67G>A r.(?) p.(=) - ACMG VUS g.75231217G>A g.72616301G>A - - TMC1_000057 homozygous PubMed: Davoudi-dehaghani 2013 - rs10217204 Germline - - - - - Anne-Françoise Roux
-/-, ?/? 13 1, 3 c.-258A>C r.(=), r.(?) p.(=), p.(?) Cytoplasmic 1 (1-199);Highly Charged (4-178) ACMG benign, pathogenic, VUS g.75231331A>C g.72616415A>C g.94615A>C - TMC1_000003, TMC1_000058 homozygous; mutation, homozygous; pathogenicity unclear, segregates with the disease, 1 more item Vaché et al., submitted, PubMed: Davoudi-dehaghani 2013, PubMed: Hilgert 2008 - rs937270834 Germline - 0/300 controls, 0/400 controls +DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI - - David Baux, Anne-Françoise Roux
-/-, -/. 2 3 c.-219A>G r.(?) p.(=) - - benign g.75231370A>G g.72616454A>G - - TMC1_000059, TMC1_000088 homozygous, VKGL data sharing initiative Nederland PubMed: Davoudi-dehaghani 2013 - rs7026304 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Anne-Françoise Roux
+/+ 2 3i_5i c.(-196+1_-195-1)_(16+1_17-1)del r.(?) p.(?) - - pathogenic g.(75231394_75242836)_(75263581_75303624)del - - - TMC1_000009 homozygous; Pathogenic PubMed: Kurima 2002 - - Germline - - - - - Anne-Françoise Roux
-/- 1 3i c.-196+153_196+154ins(314) r.(?) p.(=) - - benign g.75231546_75309744insN[314] - - - TMC1_000060 - PubMed: Davoudi-dehaghani 2013 - - Germline no - - - - Anne-Françoise Roux
+/. 1 5 c.15dup r.(?) p.(Val6Serfs*13) - - pathogenic g.75263579dup g.72648663dup 10dupA - TMC1_000076 - - - - Germline yes - - - - Zippi Brownstein
+/+ 2 5i c.16+1G>T r.(?) p.(?) Cytoplasmic 3 (462-634) ACMG VUS g.75263581G>T g.72648665G>T IVS5+1G>T - TMC1_000016 homozygous; Pathogenic PubMed: Kitajiri 2007 - - Germline - 0/338 controls -BslI - - Anne-Françoise Roux
-/- 2 5i c.16+1479C>T r.(=) p.(=) - - benign g.75265059C>T g.72650143C>T - - TMC1_000035 homozygous; Neutral PubMed: Ben Saïd 2010 - rs12553768 Germline - - +HphI - - Anne-Françoise Roux
-/- 2 5i c.17-17308A>T r.(=) p.(=) - - benign g.75286317A>T g.72671401A>T - - TMC1_000034 ; Neutral PubMed: Ben Saïd 2010 - rs1417619 Germline - - none - - Anne-Françoise Roux
-/-, -/. 13 6 c.45C>T r.(?) p.(=), p.(Asp15=) Cytoplasmic 1 (1-199);Highly Charged (4-178) - benign, pathogenic g.75303653C>T g.72688737C>T - - TMC1_000015, TMC1_000061, TMC1_000089 homozygous, homozygous; reported in linkage disequilibrium with c.100C>T, 1 more item PubMed: Davoudi-dehaghani 2013, PubMed: Kitajiri 2007 - rs2589615 CLASSIFICATION record, Germline - 68/154 controls -BbsI - - VKGL-NL_Nijmegen, Anne-Françoise Roux
+/., ?/? 5 6i c.64+2T>A r.(?), r.spl? p.(?), p.? - - benign, pathogenic, VUS g.75303674T>A g.72688758T>A IVS6+2T>A - TMC1_000033 homozygous; Pathogenic, VKGL data sharing initiative Nederland PubMed: Sirmaci 2009 - - CLASSIFICATION record, Germline - 0/192 controls +Hpy188III - - VKGL-NL_Nijmegen, Anne-Françoise Roux
-/- 6 6i c.65-316G>A r.(=) p.(=) - - benign g.75309143G>A g.72694227G>A - - TMC1_000036 homozygous; Neutral PubMed: Ben Saïd 2010 - rs1663742 Germline - - +BspHI;+Hpy188III - - Anne-Françoise Roux
?/. 1 - c.65-1G>C r.spl? p.? - - VUS g.75309458G>C g.72694542G>C - - TMC1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 70 7 c.100C>T r.(?) p.(Arg34*), p.(Arg34Ter) Cytoplasmic 1 (1-199);Highly Charged (4-178), Extracellular 2 (387-440) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004, TMC1_000090 1 heterozygous, no homozygous; Clinindb (India), homozygous; Pathogenic, 1 more item PubMed: Ben Saïd 2010, PubMed: Ganapathy 2014, PubMed: Hilgert 2008, PubMed: Kitajiri 2007, 5 more items - rs121908073 CLASSIFICATION record, Germline - 0/190 controls, 0/200 controls, 0/320 controls, 0/772 controls, 1/2793 individuals -MnlI;-TaqI - - VKGL-NL_Nijmegen, Anne-Françoise Roux, Mohammed Faruq
+/+ 1 7 c.150del r.(?) p.(Asn50Lysfs*26) Extracellular 2 (387-440) ACMG VUS g.75309544del g.72694628del - - TMC1_000045 heterozygous; Mutation PubMed: Yang 2013 - - Germline - 0/400 controls - - - Anne-Françoise Roux
-?/. 1 - c.193A>G r.(?) p.(Lys65Glu) - - likely benign g.75309587A>G g.72694671A>G TMC1(NM_138691.2):c.193A>G (p.K65E) - TMC1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 7 c.229del r.(?) p.(Arg77Glufs*16) - - pathogenic g.75309623del g.72694707del - - TMC1_000101 1/29 druze controls (het) - - - Germline yes 1/29 controls - - - Johan den Dunnen, Zippi Brownstein
+/+, ?/? 10 7i c.236+1G>A r.(?) p.(?) - - pathogenic, VUS g.75309631G>A g.72694715G>A 776+1G>A - TMC1_000002 homozygous; Pathogenic PubMed: Hildebrand 2010, PubMed: Hilgert 2008 - - Germline - 0/200 controls none - - Anne-Françoise Roux
+/+ 1 7i c.236+1G>C r.(?) p.(?) Transmembrane 3 (366-386) ACMG VUS g.75309631G>C g.72694715G>C - - TMC1_000044 heterozygous; Mutation PubMed: Yang 2013 - - Germline - 0/400 controls - - - Anne-Françoise Roux
-/- 6 7i c.236+216T>C r.(=) p.(=) Cytoplasmic 3 (462-634) - benign, pathogenic g.75309846T>C g.72694930T>C - - TMC1_000037 homozygous; Neutral PubMed: Ben Saïd 2010 - rs2589614 Germline - - +EcoNI;+BslI - - Anne-Françoise Roux
+?/+?, +?/? 4 7i c.237-6T>G r.(=) p.(=) - ACMG pathogenic, VUS g.75315428T>G g.72700512T>G - - TMC1_000053 homozygous; certainly pathogenic PubMed: Ganapathy 2014 - - Germline - 0/100 controls - - - Anne-Françoise Roux
-/. 1 - c.241G>A r.(?) p.(Glu81Lys) - - benign g.75315438G>A g.72700522G>A - - TMC1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.247G>T r.(?) p.(Glu83Ter) - - pathogenic g.75315444G>T g.72700528G>T - - TMC1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 8 c.298del r.(?) p.(Arg100Aspfs*3) - - pathogenic g.75315495del g.72700579del 295delA - TMC1_000012 homozygous; Pathogenic PubMed: Kurima 2002 - - Germline - 0/320 controls none - - Anne-Françoise Roux
+/+ 2 9i c.453+2T>C r.(?) p.(?) - - pathogenic g.75355127T>C g.72740211T>C - - TMC1_000054 heterozygous; potentially pathogenic PubMed: Ganapathy 2014 - - Germline - 0/102 controls - - - Anne-Françoise Roux
+/., ?/. 2 - c.458G>A r.(?) p.(Trp153*), p.(Trp153Ter) - - pathogenic, VUS g.75357364G>A g.72742448G>A - - TMC1_000078 VKGL data sharing initiative Nederland PubMed: Sommen 2016, Journal: Sommen 2016 - - CLASSIFICATION record, Germline - - - - - Manou Sommen, VKGL-NL_Nijmegen
+?/. 1 10 c.530T>C r.(?) p.(Ile177Thr) domain protein affected - VUS g.75357436T>C g.72742520T>C - - TMC1_000116 - - - - Not applicable - - david_lovd - - Ehsan Razmara
?/. 1 - c.535+1G>C r.spl? p.? - - VUS g.75357442G>C g.72742526G>C - - TMC1_000079 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
?/? 8 10i c.536-8T>A r.(=) p.(=) Cytoplasmic 3 (462-634) ACMG pathogenic, VUS g.75366758T>A g.72751842T>A IVS10-8T>A - TMC1_000010 homozygous; exon 11 skiped, homozygous; pathogenicity unclear PubMed: Kurima 2002, PubMed: Santos 2005 - - Germline - 0/234 controls, 0/320 controls +DdeI - - Anne-Françoise Roux
+/., +/? 2 10i c.536-1G>A r.(?), r.spl? p.(?), p.? - - pathogenic, pathogenic (recessive) g.75366765G>A g.72751849G>A - - TMC1_000069, TMC1_000092 VKGL data sharing initiative Nederland PubMed: Baux, Vaché 2017 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Anne-Françoise Roux
-?/. 1 - c.543T>G r.(?) p.(Phe181Leu) - - likely benign g.75366773T>G g.72751857T>G - - TMC1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 11 c.582G>A r.(?) p.(Trp194*) Cytoplasmic 3 (462-634) - pathogenic g.75366812G>A g.72751896G>A - - TMC1_000041 homozygous; Pathogenic PubMed: Duman 2011 - - Germline - 0/192 controls -BtsCI;-BccI;-FokI - - Anne-Françoise Roux
+/+ 1 11 c.589G>A r.(?) p.(Gly197Arg) - - pathogenic g.75366819G>A g.72751903G>A - - TMC1_000049 heterozygous; mutation PubMed: Gao et al,.2013; USMA-missense variant in MSV3d - - Germline - 0/416 controls - - - Anne-Françoise Roux
+/+ 1 11 c.627C>T r.(=) p.(=) - ACMG pathogenic (recessive) g.75366857C>T g.72751941C>T - - TMC1_000131 Shown in minigenes to alter splicing by altering regulatory elements. PP3 PP6 PM7 PS3 Vaché et al., submitted ClinVar-1219297 rs748580616 Germline yes - - - - David Baux
+?/? 2 11 c.630_632del r.(=) p.(Ile210del) - ACMG VUS g.75366860_75366862del g.72751944_72751946del 628_630del - TMC1_000052 heterozygous; certainly pathogenic PubMed: Ganapathy 2014 - - Germline - 0/102 controls - - - Anne-Françoise Roux
+?/. 1 - c.646del r.(?) p.(Leu216Serfs*54) - - likely pathogenic g.75369705del g.72754789del - - TMC1_000082 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
+/., ?/. 2 11, 12 c.674C>T r.(?) p.(Pro225Leu) - - pathogenic, VUS g.75369733C>T g.72754817C>T - - TMC1_000077 not in 266 controls PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline yes - - - - Zippi Brownstein, Manou Sommen
-?/. 1 - c.696C>T r.(?) p.(Ala232=) - - likely benign g.75369755C>T g.72754839C>T TMC1(NM_138691.2):c.696C>T (p.A232=) - TMC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.709G>A r.(?) p.(Ala237Thr) - - VUS g.75369768G>A g.72754852G>A - - TMC1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 13 c.769del r.(?) p.(Tyr257Metfs*13) Cytoplasmic 3 (462-634) ACMG VUS g.75387356del g.72772440del 767delT - TMC1_000007 homozygous; Pathogenic PubMed: Hilgert 2008 - - Germline - - none - - Anne-Françoise Roux
+/. 1 - c.773G>A r.(?) p.(Gly258Asp) - - pathogenic (recessive) g.75387360G>A g.72772444G>A - - TMC1_000124 - PubMed: Chen 2018 - - Germline - - - - - LOVD
?/? 2 13 c.776A>G r.(?) p.(Tyr259Cys) Transmembrane 2 (273-293) ACMG VUS g.75387363A>G g.72772447A>G - - TMC1_000026 homozygous; Pathogenic PubMed: Kalay 2005; USMA-missense variant in MSV3d - - Germline - 0/230 controls none - - Anne-Françoise Roux
+/., +?/. 2 - c.790C>T r.(?) p.(Arg264*), p.(Arg264Ter) - - likely pathogenic, pathogenic g.75387377C>T g.72772461C>T - - TMC1_000083 VKGL data sharing initiative Nederland PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - CLASSIFICATION record, Germline - - - - - Mieke Wesdorp, VKGL-NL_Nijmegen
+?/? 3 13 c.800G>A r.(=) p.(Gly267Glu) Extracellular 1 (221-272), Transmembrane 1 (200-220) ACMG VUS g.75387387G>A g.72772471G>A - - TMC1_000051 heterozygous; certainly pathogenic PubMed: Ganapathy 2014; USMA-missense variant in MSV3d - - Germline - 0/108 controls - - - Anne-Françoise Roux
?/? 2 13 c.821C>T r.(?) p.(Pro274Leu) Cytoplasmic 2 (294-365) - pathogenic g.75387408C>T g.72772492C>T - - TMC1_000027 homozygous; Pathogenic PubMed: Kalay 2005; USMA-missense variant in MSV3d - - Germline - 0/230 controls +ApeKI;+BbvI;+TseI;-BsrBI;-AciI - - Anne-Françoise Roux
?/? 2 13 c.830A>G r.(?) p.(Tyr277Cys) Transmembrane 3 (366-386) ACMG VUS g.75387417A>G g.72772501A>G - - TMC1_000020 homozygous; Probably damaging PubMed: Santos 2005; USMA-missense variant in MSV3d - - Germline - 0/234 controls none - - Anne-Françoise Roux
+/. 1 - c.863del r.(?) p.(Ser288ThrfsTer9) - - pathogenic g.75387450del g.72772534del TMC1(NM_138691.2):c.863delG (p.S288Tfs*9) - TMC1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.865T>A r.(?) p.(Phe289Ile) - - pathogenic g.75387452T>A g.72772536T>A TMC1(NM_138691.2):c.865T>A (p.F289I) - TMC1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.866_867insAA r.(?) p.(Phe289LeufsTer9) - - pathogenic g.75387453_75387454insAA g.72772537_72772538insAA TMC1(NM_138691.2):c.866_867insAA (p.F289Lfs*9) - TMC1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.868_869insAATACGC r.(?) p.(Leu290GlnfsTer15) - - pathogenic g.75387455_75387456insAATACGC g.72772539_72772540insAATACGC TMC1(NM_138691.2):c.868_869insAATACGC (p.L290Qfs*15) - TMC1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.884C>T r.(?) p.(Ala295Val) - - VUS g.75387471C>T - - - TMC1_000122 - - - - Germline/De novo (untested) - - - - - So Young Kim
+/+ 2 13i c.884+1G>A r.(?) p.(?) - ACMG VUS g.75387472G>A g.72772556G>A IVS13+1G>A - TMC1_000013 homozygous; Pathogenic PubMed: Kurima 2002 - - Germline - - none - - Anne-Françoise Roux
-/- 2 13i c.884+334T>C r.(?) p.(=) - - benign g.75387805T>C g.72772889T>C - - TMC1_000063 homozygous PubMed: Davoudi-dehaghani 2013 - rs25011913 Germline - - - - - Anne-Françoise Roux
?/. 1 - c.902G>A r.(?) p.(Gly301Asp) - - VUS g.75403272G>A - TMC1(NM_138691.2):c.902G>A (p.G301D) - TMC1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.956C>G r.(?) p.(Thr319Ser) - - VUS g.75403326C>G g.72788410C>G - - TMC1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 2 - c.968A>G r.(?) P.(Tyr323Cys) - ACMG likely pathogenic (recessive), pathogenic (recessive) g.75403338A>G - - - TMC1_000132 ACMG PM2, PM3, PP1, PP3 PubMed: Kraatari-Tiri 2022 - rs746724027 Germline yes - - - - Johan den Dunnen, Elisa Rahikkala
+/+ 2 15 c.1083_1087del r.(?) p.(Arg362Profs*6) Transmembrane 4 (441-461) ACMG VUS g.75404092_75404096del g.72789176_72789180del - - TMC1_000028 homozygous; Pathogenic PubMed: Kalay 2005 - - Germline - 0/230 controls -DpnI;-BclI;-Sau3AI;-MboI;-Hpy188I;-BfuCI - - Anne-Françoise Roux
?/? 1 15 c.1107C>A r.(?) p.(Asn369Lys) Extracellular 2 (387-440) ACMG VUS g.75404116C>A g.72789200C>A - - TMC1_000046 heterozygous; Mutation PubMed: Yang 2013; USMA-missense variant in MSV3d - - Germline - 0/400 controls - - - Anne-Françoise Roux
+?/?, ?/? 6 15 c.1114G>A r.(?) p.(Val372Met) Transmembrane 3 (366-386), Transmembrane 4 (441-461) ACMG VUS g.75404123G>A g.72789207G>A - - TMC1_000021 homozygous; Benign, homozygous; certainly pathogenic PubMed: Ganapathy 2014; USMA-missense variant in MSV3d, 1 more item - - Germline - 0/234 controls +FatI;+NlaIII;+CviAII - - Anne-Françoise Roux
?/. 2 - c.1133G>A r.(?) p.(Gly378Glu) - - VUS g.75404142G>A - - - TMC1_000119 - - - - Germline/De novo (untested) - - - - - So Young Kim
?/. 2 - c.1141T>A r.(?) p.(Tyr381Asn) - - VUS g.75404150T>A g.72789234T>A - - TMC1_000080 VKGL data sharing initiative Nederland PubMed: Sommen 2016, Journal: Sommen 2016 - - CLASSIFICATION record, Germline - - - - - Manou Sommen, VKGL-NL_Nijmegen
+/+, +/. 17 15 c.1165C>T r.(?) p.(Arg389*) Extracellular 2 (387-440) ACMG pathogenic, VUS g.75404174C>T g.72789258C>T in exon 13 - TMC1_000005 heterozygous; Pathogenic, homozygous, homozygous; Pathogenic, VKGL data sharing initiative Nederland PubMed: Besnard, Garcia-Garcia 2014, PubMed: Brownstein 2011, PubMed: Hilgert 2008, PubMed: Meyer 2004, 2 more items - rs151001642 CLASSIFICATION record, Germline yes 0/164 controls, 0/200 controls, 0/584 controls, 3/168 cases (het) none - - Zippi Brownstein, VKGL-NL_Nijmegen, Anne-Françoise Roux
+/?, ?/? 2 15 c.1166G>A r.(?) p.(Arg389Gln) Extracellular 1 - pathogenic g.75404175G>A g.72789259G>A - - TMC1_000006 homozygous; Pathogenic PubMed: Hilgert 2008; USMA-missense variant in MSV3d - - Germline - 0/200 controls -AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;-DpnII - - Anne-Françoise Roux
-/- 2 15 c.1167C>T r.(?) p.(?) - - benign g.75404176C>T - - - TMC1_000062 1 more item PubMed: Davoudi-dehaghani 2013 - - Germline - - - - - Anne-Françoise Roux
+/+ 1 15 c.1171C>T r.(?) p.(Gln391*) - - pathogenic g.75404180C>T g.72789264C>T - - TMC1_000048 heterozygous; mutation PubMed: Gao 2013 - - Germline - - 0/416 controls - - Anne-Françoise Roux
?/? 2 15 c.1209G>C r.(?) p.(Trp403Cys) Cytoplasmic 1 (1-199) - VUS g.75404218G>C g.72789302G>C - - TMC1_000047 homozygous; Mutation PubMed: Yang 2013; USMA-missense variant in MSV3d - - Germline - 0/400 controls - - - Anne-Françoise Roux
?/. 2 - c.1210T>A r.(?) p.(Trp404Arg) - - VUS g.75404219T>A - - - TMC1_000134 - - - - CLASSIFICATION record - - - - - MobiDetails
+/., ?/? 2 15 c.1210T>C r.(?) p.(Trp404Arg) Cytoplasmic 1 (1-199) - pathogenic g.75404219T>C g.72789303T>C - - TMC1_000040 heterozygous; Possibly pathogenic PubMed: Brownstein 2011, Journal: Brownstein 2011, 1 more item - - Germline yes 0/164 controls, 2/168 cases (het) +FauI;+AciI - - Zippi Brownstein, Anne-Françoise Roux
?/. 1 - c.1224+1G>T r.spl? p.? - - VUS g.75404234G>T g.72789318G>T - - TMC1_000081 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
+/. 1 - c.1247T>G r.(?) p.(Leu416Arg) - - pathogenic (recessive) g.75406824T>G g.72791908T>G - - TMC1_000126 - PubMed: Chen 2015, PubMed: Chen 2018 - - Germline - - - - - LOVD
?/. 2 - c.1250G>A r.(?) p.(Gly417Glu) - - VUS g.75406827G>A - - - TMC1_000123 - - - - Germline/De novo (untested) - - - - - So Young Kim
+/. 1 - c.1312G>A r.(?) p.(Ala438Thr) - - pathogenic (recessive) g.75406889G>A g.72791973G>A - - TMC1_000127 - PubMed: Chen 2015, PubMed: Chen 2018 - - Germline - - - - - LOVD
+/. 1 - c.1323G>A r.(?) p.(Trp441*) - - pathogenic g.75406900G>A - TMC1(NM_138691.2):c.1323G>A (p.W441*) - TMC1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 2 16 c.1330G>A r.(?) p.(Gly444Arg) 1 more item - pathogenic g.75406907G>A g.72791991G>A - - TMC1_000029 homozygous; Pathogenic PubMed: Sirmaci 2009; USMA-missense variant in MSV3d - - Germline - 0/194 controls +BsmBI;+BsmAI;+DdeI;-BsmFI;-BsrI;-BmrI - - Anne-Françoise Roux
+?/., +?/?, ?/., ?/? 6 16 c.1333C>T r.(?) p.(Arg445Cys) Extracellular 3 (656-699), Transmembrane 4 (441-461) ACMG likely pathogenic, VUS g.75406910C>T g.72791994C>T - - TMC1_000031, TMC1_000095 homozygous; certainly pathogenic, homozygous; Pathogenic, VKGL data sharing initiative Nederland PubMed: Ganapathy 2014; USMA-missense variant in MSV3d, 1 more item - rs372710475 CLASSIFICATION record, Germline - 0/108 controls, 0/194 controls +BtsCI;+FokI;+SfaNI;+NsiI;-HgaI;-BsmFI - - VKGL-NL_Nijmegen, Anne-Françoise Roux, MobiDetails
?/? 5 16 c.1334G>A r.(?) p.(Arg445His) Extracellular 3 (656-699), Transmembrane 4 (441-461) ACMG VUS g.75406911G>A g.72791995G>A - - TMC1_000022 heterozygous; Mutation, homozygous; Benign, homozygous; Pathogenic PubMed: Meyer 2004; USMA-missense variant in MSV3d, PubMed: Yang 2013; USMA-missense variant in MSV3d, 1 more item - - Germline - 0/230 controls, 0/234 controls, 0/400 controls -HgaI - - Anne-Françoise Roux
-/. 1 - c.1457T>C r.(?) p.(Met486Thr) - - benign g.75407159T>C g.72792243T>C - - TMC1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1512dupT r.(?) p.(Val505fs) - - likely pathogenic (recessive) g.75407208dupT - - - TMC1_000120 - - - - Germline/De novo (untested) - - - - - So Young Kim
+/+, +/. 10 17 c.1534C>T r.(?) p.(Arg512*), p.(Arg512Ter) Cytoplasmic 3 (462-634) ACMG pathogenic, pathogenic (recessive) g.75407236C>T g.72792320C>T - - TMC1_000011, TMC1_000097 ACMG PVS1, PM2, PP3, PP5, AMCG PS3, PM3, PM2, heterozygous, homozygous; Pathogenic, 1 more item PubMed: Baux, Vaché 2017, PubMed: Kraatari-Tiri 2022, PubMed: Kurima 2002 - rs200171616 CLASSIFICATION record, Germline yes 0/320 controls +BpuEI;-XhoI;-TliI;-MnlI;-PspXI;-AvaI;-BsoBI;-TaqI - - Johan den Dunnen, VKGL-NL_Nijmegen, Anne-Françoise Roux, Elisa Rahikkala
?/? 2 17 c.1541C>T r.(?) p.(Pro514Leu) Cytoplasmic 3 (462-634) ACMG VUS g.75407243C>T g.72792327C>T - - TMC1_000017 homozygous; likely to be pathogenic PubMed: Kitajiri 2007; USMA-missense variant in MSV3d - - Germline - 0/338 controls -PpuMI;-Sau96I;-AvaII;-EcoO109I - - Anne-Françoise Roux
?/? 4 17 c.1543T>C r.(?) p.(Cys515Arg) Cytoplasmic 3 (462-634) ACMG VUS g.75407245T>C g.72792329T>C - - TMC1_000018 homozygous; likely to be pathogenic PubMed: Kitajiri 2007; USMA-missense variant in MSV3d - rs121908076 Germline - 0/338 controls +MnlI;-BcgI (2) - - Anne-Françoise Roux
+/+ 5 17i c.1566+1G>A r.(?) p.(?) Extracellular 1 (221-272) ACMG pathogenic, VUS g.75407269G>A g.72792353G>A - - TMC1_000050 heterozygous; certainly pathogenic PubMed: Ganapathy 2014 - - Germline - 0/106 controls - - - Anne-Françoise Roux
-/- 2 17i c.1566+169G>C r.(?) p.(=) - - benign g.75407437G>C g.72792521G>C - - TMC1_000064 homozygous PubMed: Davoudi-dehaghani 2013 - rs72733079 Germline - - - - - Anne-Françoise Roux
+/+ 2 17i_24 c.1566+2159_*378+1271del r.(?) p.(?) Transmembrane 4 (441-461) ACMG VUS g.75409427_75452538del g.72794511_72837622del a 31 kb deletion - TMC1_000030 homozygous; Pathogenic PubMed: Sirmaci 2009 - - Germline - - - - - Anne-Françoise Roux
-/- 1 17i c.1567-67T>A r.(?) p.(=) - - benign g.75420231T>A g.72805315T>A - - TMC1_000065 homozygous PubMed: Davoudi-dehaghani 2013 - rs7860172 Germline - - - - - Anne-Françoise Roux
+/+ 2 18 c.1589_1590del r.(?) p.(Ser530*) Transmembrane 5 (635-655) ACMG VUS g.75420320_75420321del g.72805404_72805405del - - TMC1_000038 homozygous; Pathogenic PubMed: Hildebrand 2010 - - Germline - 0/112 controls -BsmAI;-AlwNI - - Anne-Françoise Roux
-?/. 1 - c.1626G>A r.(?) p.(Gly542=) - - likely benign g.75420357G>A - TMC1(NM_138691.2):c.1626G>A (p.G542=) - TMC1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 18 c.1676G>A r.(?) p.(Trp559*) - ACMG likely pathogenic g.75420407G>A g.72805491G>A - - TMC1_000068 heterozygous PubMed: Baux, Vaché 2017 - rs876657728 Germline - - - - - Anne-Françoise Roux
-?/. 1 - c.1705A>G r.(?) p.(Thr569Ala) - - likely benign g.75431068A>G - TMC1(NM_138691.2):c.1705A>G (p.T569A) - TMC1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-, -/. 3 19 c.1713C>T r.(?) p.(=), p.(Phe571=) - - benign g.75431076C>T g.72816160C>T - - TMC1_000066, TMC1_000098 homozygous, VKGL data sharing initiative Nederland PubMed: Davoudi-dehaghani 2013 - rs34532421 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Anne-Françoise Roux
+/., +?/., ?/., ?/? 25 19 c.1714G>A r.(?) p.(Asp572Asn) Cytoplasmic 3 (462-634) ACMG likely pathogenic, pathogenic, pathogenic (dominant), VUS g.75431077G>A g.72816161G>A - - TMC1_000008, TMC1_000099 ACMG PP5, PM1, PM2, PM5, heterozygous; Pathogenic, VKGL data sharing initiative Nederland, 1 more item PubMed: Hilgert 2009; USMA-missense variant in MSV3d, PubMed: Kraatari-Tiri 2022, 1 more item - rs121908072 CLASSIFICATION record, Germline, Germline/De novo (untested) yes 0/554 controls, 0/902 controls +CspCI (2);-TaqI - - VKGL-NL_Nijmegen, Anne-Françoise Roux, Elisa Rahikkala, So Young Kim, MobiDetails
?/? 6 19 c.1714G>C r.(?) p.(Asp572His) Cytoplasmic 3 (462-634), Transmembrane 2 (273-293) ACMG VUS g.75431077G>C g.72816161G>C - - TMC1_000019 heterozygous; Pathogenic PubMed: Kitajiri 2007; USMA-missense variant in MSV3d - rs121908072 Germline - 0/902 controls +AleI;+MslI;+BstXI;-TaqI - - Anne-Françoise Roux
?/. 1 - c.1762T>C r.(?) p.(Trp588Arg) - - VUS g.75431125T>C g.72816209T>C - - TMC1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 5 19i c.1763+3A>G r.spl? p.? - ACMG pathogenic, pathogenic (recessive) g.75431129A>G g.72816213A>G TMC1(NM_138691.2):c.1763+3A>G - TMC1_000043, TMC1_000085 ACMG PS3, PM3, PM2, VKGL data sharing initiative Nederland PubMed: De Heer 2010, PubMed: Kraatari-Tiri 2022 - rs370898981 CLASSIFICATION record, Germline yes 1/354 controls +Sau96I - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Anne-Françoise Roux, Elisa Rahikkala
?/? 8 19i c.1763+5G>A r.(?) p.(?) Extracellular 1 (221-272) ACMG VUS g.75431131G>A g.72816215G>A 19+5 (IVS19) - TMC1_000025 heterozygous; Pathogenic, homozygous; Pathogenic PubMed: Meyer 2004 - - Germline - 0/584 controls +Hpy166II;+AccI;-PhoI;-HaeIII;-CviKI_1;-Cac8I - - Anne-Françoise Roux
-/- 2 19i c.1763+123G>A r.(?) p.(=) Cytoplasmic 3 (462-634) ACMG likely pathogenic, pathogenic g.75431249G>A g.72816333G>A - - TMC1_000067 homozygous PubMed: Davoudi-dehaghani 2013 - rs56349532 Germline - - - - - Anne-Françoise Roux
+/+, +/. 3 20 c.1764G>A r.(?), r.(spl?) p.(Trp588*) - ACMG pathogenic, VUS g.75435758G>A g.72820842G>A - - TMC1_000042 homozygous; Pathogenic PubMed: Sommen 2016, Journal: Sommen 2016, PubMed: Tlili 2008 - rs18259073 Germline - 0/200 controls +XbaI;+Hpy188III;-BtsCI;-BccI;-FokI - - Manou Sommen, Anne-Françoise Roux
+/+, +/. 13 20 c.1810C>T r.(?) p.(Arg604*) Cytoplasmic 3 (462-634) - pathogenic g.75435804C>T g.72820888C>T 2350C>T p.R604X - TMC1_000001 0/128 controls, heterozygous; Pathogenic, homozygous; Pathogenic, not in 128 controls PubMed: Brownstein 2011, PubMed: Brownstein 2011, Journal: Brownstein 2011, PubMed: Hilgert 2008 - - Germline yes 0/256 controls, 8/158 patients het, 8/168 cases (het) -HpyAV;-TaqI; - - Zippi Brownstein, Anne-Françoise Roux
?/. 1 - c.1846G>A r.(?) p.(Val616Ile) - - VUS g.75435840G>A g.72820924G>A TMC1(NM_138691.2):c.1846G>A (p.V616I) - TMC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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