Unique variants in the USH1C gene


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_153676.3 transcript reference sequence.

203 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Exon_old     

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     
+/., ?/. 2 - c.? r.(?), r.? p.(Gly407Glufs*58), p.? - - ACMG pathogenic, VUS g.17539012del, g.? - 566G>A (Arg189Gln), NM_005709.3:c.1220del - DRD4_000002, USH1C_000196 - PubMed: Costa 2017, PubMed: Sharon 2019 - - Germline - 13/2420 IRD families - - - Global Variome, with Curator vacancy
-?/. 1 - c.-3158G>A r.(?) p.(=) - - - likely benign g.17569012C>T - OTOG(NM_001277269.1):c.93C>T (p.L31=) - USH1C_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 2i_27_ c.(104+1_105-1)_*437{0} r.? p.? - - - pathogenic g.(17432201_17434212)_(17553090_17554801)del, g.(?_g.17436861)_(17546526_?)del 17439772_17546526del del ex3-27 - USH1C_000212 123kb deletion incl. ABCC8 and USH1C PubMed: Neuhaus 2017 - - Germline - - - - - LOVD
+/. 1 - c.7C>T r.(?) p.(Arg3Ter) - - - pathogenic (recessive) g.17565848G>A g.17544301G>A - - USH1C_000208 - PubMed: Ben-Rebeh 2016 - - Germline yes - - - - LOVD
?/. 1 - c.28C>T r.(?) p.(Arg10Trp) - - - VUS g.17565827G>A - - - USH1C_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/? 1 1 c.36G>A r.(?) p.(=) PDZ 2 (211-281) 1 - pathogenic g.17565819C>T g.17544272C>T - - USH1C_000100 heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - Crystel Bonnet
+/+ 2 1i c.36+1G>T r.(?) p.(?) - 1i - pathogenic g.17565818C>A g.17544271C>A - - USH1C_000032 heterozygous PubMed: Zwaenepoel 2001 - - Germline - 0/100 controls - - - Anne-Françoise Roux
-/- 4 1i c.37-153G>T r.(=) p.(=) - 1i ACMG benign, likely benign g.17555022C>A g.17533475C>A - - USH1C_000059 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs41274344 Germline - 0/96 controls -MnlI - - Maria Bitner-Glindzicz
-/? 1 1i c.37-111A>C r.(=) p.(=) - 1i ACMG likely benign g.17554980T>G g.17533433T>G - - USH1C_000067 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - - Germline - 0/96 controls +FauI;+AciI;-BpmI;-CviKI_1; - - Maria Bitner-Glindzicz
-/- 3 1i c.37-61A>G r.(=) p.(=) - 1i - benign, pathogenic g.17554930T>C g.17533383T>C - - USH1C_000028 heterozygous, homozygous PubMed: Roux 2006, PubMed: Roux 2011 - rs878546 Germline - - - - - Anne-Françoise Roux
-/? 1 1i c.37-52A>G r.(=) p.(=) PDZ 1 (87-155) 1i ACMG VUS g.17554921T>C g.17533374T>C - - USH1C_000071 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs146780803 Germline - 0/96 controls none - - Maria Bitner-Glindzicz
-/- 2 1i c.37-48G>T r.(=) p.(=) - 1i - benign g.17554917C>A g.17533370C>A - - USH1C_000027 homozygous PubMed: Roux 2006 - - Germline - - - - - Anne-Françoise Roux
-/- 4 1i c.37-47G>T r.(=) p.(=) - 1i - benign g.17554916C>A g.17533369C>A - - USH1C_000020 heterozygous, homozygous PubMed: Besnard, Garcia-Garcia 2014, PubMed: Roux 2006 - rs2355022 Germline - - - - - Anne-Françoise Roux
-/- 6 1i c.37-45C>G r.(=) p.(=) - 1i - benign g.17554914G>C g.17533367G>C - - USH1C_000019 heterozygous, homozygous PubMed: Besnard, Garcia-Garcia 2014, PubMed: Roux 2006, PubMed: Roux 2011 - rs2240489 Germline - - - - - Anne-Françoise Roux
-/? 1 1i c.37-43_37-42dup r.(?) p.(?) - 1i - benign g.17554912_17554913dup g.17533365_17533366dup - - USH1C_000041 heterozygous PubMed: Roux 2011 - rs5789992 Germline - - - - - Anne-Françoise Roux
?/. 1 - c.38T>C r.(?) p.(Val13Ala) - - - VUS g.17554868A>G g.17533321A>G USH1C(NM_153676.3):c.38T>C (p.V13A) - USH1C_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.91C>A r.(?) p.(Arg31*) - - - pathogenic (recessive) g.17554815G>A g.17533268G>A 91C>A - USH1C_000031 - PubMed: Cremers 2007 - - Germline - - - - - LOVD
+/+ 1 2 c.91C>T r.(?) p.(Arg31*) - 2 - pathogenic g.17554815G>A g.17533268G>A - - USH1C_000031 heterozygous PubMed: Zwaenepoel 2001 - rs121908370 Germline - - - - - Anne-Françoise Roux
-/., -?/? 2 2 c.101A>G r.(?) p.(His34Arg) - 2 ACMG benign, likely benign g.17554805T>C g.17533258T>C USH1C(NM_153676.3):c.101A>G (p.H34R) - USH1C_000084 heterozygous, VKGL data sharing initiative Nederland PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - - CLASSIFICATION record, Germline - - +AciI - - VKGL-NL_AMC, Anne-Françoise Roux
+/+, +/. 2 2i c.104+1G>A r.(?), r.spl? p.(?), p.? - 2i - pathogenic g.17554801C>T g.17533254C>T - - USH1C_000097, USH1C_000155 heterozygous; mutation, VKGL data sharing initiative Nederland PubMed: Bonnet 2016 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Crystel Bonnet
+/+ 3 2i_27_ c.104+580_*437del r.(?), r.? p.(?), p.? 1 more item 2_21 - pathogenic (recessive) g.17431532_17554222del g.17409985_17532675del 105_2700del - USH1C_000034 - PubMed: Bitner-Glindzicz 2000 - - Germline yes - - - - Anne-Françoise Roux
-/-, -/. 4 2i c.105-16C>T r.(=) p.(=) - 2i - benign g.17553105G>A g.17531558G>A USH1C(NM_153676.4):c.105-16C>T - USH1C_000045, USH1C_000144 heterozygous, VKGL data sharing initiative Nederland PubMed: Roux 2011 - rs2041027 CLASSIFICATION record, Germline - - -BssKI;-NciI;-BsmI;-ScrFI;-StyD4I; - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Anne-Françoise Roux
-/. 1 - c.105-4A>G r.spl? p.? - - - benign g.17553093T>C g.17531546T>C USH1C(NM_153676.3):c.105-4A>G - USH1C_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.114C>T r.(?) p.(Asp38=) - - - likely benign g.17553080G>A g.17531533G>A USH1C(NM_153676.3):c.114C>T (p.D38=) - USH1C_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.127G>A r.(?) p.(Val43Met) - - - VUS g.17553067C>T g.17531520C>T USH1C(NM_153676.3):c.127G>A (p.V43M) - USH1C_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 2 3 c.187C>T r.(=) p.(Arg63Trp) PDZ 1 (87-155) 3 ACMG VUS g.17553007G>A g.17531460G>A - - USH1C_000086 heterozygous; potentially pathogenic PubMed: Ganapathy 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs375741564 Germline - 0/100 controls - - - Anne-Françoise Roux
+?/. 1 3 c.216A>G r.(?) p.? - - - likely pathogenic g.17552978T>C - c.216A>G - USH1C_000233 - PubMed: Wafa-2021 - - Germline - - - - - LOVD
+/+, +/., +?/. 50 3 c.216G>A r.(210_248del), r.(=), r.(?), r.214_248del, r.spl? p.(=), p.(?), p.(His70_Arg83delinsGln), p.(Val72=), p.Val72Glufs*65 PDZ 2 (211-281) 3 - likely pathogenic, pathogenic, pathogenic (recessive) g.17552978C>T g.17531431C>T 11:17552978C>T ENST00000005226.7:c.216G>A (?)), c.216G>A, 3 more items - USH1C_000001 analysis mini-gene splicing assay and cell lines, heterozygous, homozygous, 3 more items PubMed: Bitner-Glindzicz 2000, PubMed: Bujakowska 2014, PubMed: Carss 2017, PubMed: Ebermann 2007, 8 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested) ?, yes 0/192 controls, 1/454 controls -DraIII - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Anne-Françoise Roux
?/. 1 - c.216G>T r.(=) p.(=) - - - VUS g.17552978C>A g.17531431C>A - - USH1C_000161 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.225T>A r.(?) p.(Asp75Glu) - - - VUS g.17552969A>T g.17531422A>T USH1C(NM_153676.3):c.225T>A (p.D75E) - USH1C_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 3 c.226C>T r.(?) p.(Gln76*) PDZ 1 (87-155) 3 ACMG VUS g.17552968G>A g.17531421G>A - - USH1C_000079 heterozygous PubMed: Besnard, Garcia-Garcia 2014 - - Germline - - -BclI;-BfuCI;-DpnI;-DpnII;-MboI;-MspA1I; - - Anne-Françoise Roux
+/. 1 - c.237_238insC r.(?) p.(Arg80Profs*69) - - - pathogenic (recessive) g.17552956_17552957insG - 11:17552955C>CG ENST00000005226.7:c.238dupC (Arg80ProfsTer69) - USH1C_000201 - PubMed: Carss 2017 - - Germline - - - - - LOVD
+/+, +/., +?/., ?/. 67 3 c.238dup r.(?) p.(Arg80Profs*69), p.(Arg80ProfsTer69) N-domain (1-86), PDZ 1 (87-155) 3 ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.17552956dup, g.17552961dup g.17531409dup, g.17531414dup 232_233insC, 238dupC, 238_239dupC, 280inC, USH1C c.238dup, p.(Arg80Profs*69), 3 more items - USH1C_000003, USH1C_000154 heterozygous, heterozygous; mutation, heterozygous; Pathogenic, homozygous, homozygous; mutation, 4 more items PubMed: Bitner-Glindzicz 2000, PubMed: Blaydon 2003, PubMed: Bonnet 2011, PubMed: Bonnet 2016, 16 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown ?, yes 0/160 controls, 0/200 controls, 0/878 controls, 1/899 cases, 2/2420 IRD families none - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Anne-Françoise Roux, Maria Bitner-Glindzicz, Crystel Bonnet
?/. 1 - c.242G>A r.(?) p.(Arg81His) - - - VUS g.17552952C>T g.17531405C>T USH1C(NM_153676.3):c.242G>A (p.R81H) - USH1C_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.263del r.(?) p.(Val88Glyfs*13) - - - likely pathogenic g.17552825del g.17531278del USH1C, variant 1: c.263del/p.V88Gfs*13, variant 2: c.496+1G>T/p.? - USH1C_000229 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/? 2 4 c.266G>A r.(=) p.(Arg89His) Proline rich (515-683) 4 ACMG VUS g.17552822C>T g.17531275C>T 267G>A - p.(Arg89His) - USH1C_000087 heterozygous; certainly pathogenic PubMed: Ganapathy 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/100 controls - - - Anne-Françoise Roux
-/- 2 4 c.294C>T r.(?) p.(=) - 4 - benign g.17552794G>A g.17531247G>A - - USH1C_000026 homozygous PubMed: Roux 2006 - rs34055234 Germline - - - - - Anne-Françoise Roux
+?/?, -/. 2 4 c.307C>T r.(?) p.(Arg103Cys) - 4 ACMG benign, likely benign g.17552781G>A g.17531234G>A USH1C(NM_153676.3):c.307C>T (p.R103C) - USH1C_000081, USH1C_000139 heterozygous, VKGL data sharing initiative Nederland PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Anne-Françoise Roux
+?/., +?/? 6 4 c.308G>A r.(?) p.(Arg103His) PDZ 1 (87-155), PDZ 3 (752-825) 4 ACMG benign, likely pathogenic, VUS g.17552780C>T g.17531233C>T USH1C c.308G>A, p.Arg103His - USH1C_000007 heterozygous, heterozygous; likely pathogenic, heterozygous; Presumably pathogenic PubMed: Bonnet 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d, PubMed: Georgiou 2021, 2 more items - - Germline, Unknown ? 0/306 controls, 0/352 controls, 0/866 controls +FatI;+NlaIII;+CviAII;+HpyCH4V; - - Anne-Françoise Roux, Maria Bitner-Glindzicz
+?/., +?/? 2 4 c.311G>A r.(?) p.(Gly104Asp) - 4 ACMG likely benign, likely pathogenic g.17552777C>T g.17531230C>T - - USH1C_000080 heterozygous 0, PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline yes - +BccI - - Anne-Françoise Roux
-/? 1 4 c.324T>C r.(?) p.(=) - 4 - pathogenic g.17552764A>G g.17531217A>G - - USH1C_000077 heterozygous; UV1 PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls none - - Maria Bitner-Glindzicz
+/. 1 4 c.348_373del r.(?) p.(His116Glnfs*24) - - - pathogenic g.17552715_17552740del - c.348_373del - USH1C_000230 - PubMed: Colombo-2020 - - Germline yes - - - - LOVD
+/. 1 - c.364C>T r.(?) p.(Gln122Ter) - - - pathogenic g.17552724G>A g.17531177G>A - - USH1C_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 4 c.369del r.(?) p.(Asp124Thrfs*7) - 4 - benign g.17552719del g.17531172del - - USH1C_000053 homozygous; Pathogenic PubMed: Aparisi 2010 - - Germline - - none - - Anne-Françoise Roux
-/., -?/. 2 - c.381G>T r.(?) p.(Gly127=) - - - benign, likely benign g.17552707C>A g.17531160C>A USH1C(NM_153676.3):c.381G>T (p.G127=) - USH1C_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/? 2 4i c.388-8T>A r.(=) p.(=) - 4i ACMG VUS g.17548886A>T g.17527339A>T - - USH1C_000091 heterozygous; potentially pathogenic PubMed: Ganapathy 2014 - - Germline - 0/100 controls - - - Anne-Françoise Roux
+/+ 2 4i c.388-1G>C r.(?) p.(?) N-domain (1-86) 4i ACMG VUS g.17548879C>G g.17527332C>G - - USH1C_000099 homozygous; mutation PubMed: Bonnet 2016 - rs55843567 Germline - - - - - Crystel Bonnet
-/? 1 5 c.388G>A r.(?) p.(Val130Ile) Proline rich (515-683) 5 ACMG likely benign g.17548878C>T g.17527331C>T - - USH1C_000035 heterozygous PubMed: Blaydon 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs55843567 Germline - 0/192 controls - - - Anne-Françoise Roux
-?/., ?/. 2 - c.403G>A r.(?) p.(Val135Ile) - - - likely benign, VUS g.17548863C>T g.17527316C>T USH1C(NM_153676.3):c.403G>A (p.V135I) - USH1C_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.406C>T r.(?) p.(Arg136Trp) - - - VUS g.17548860G>A g.17527313G>A - - USH1C_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.407G>A r.(?) p.(Arg136Gln) - - ACMG VUS g.17548859C>T g.17527312C>T - - USH1C_000207 - PubMed: Sun 2018 - - Germline - - - - - LOVD
+?/., ?/. 2 - c.434G>A r.(?) p.(Cys145Tyr) - - ACMG likely pathogenic, VUS g.17548832C>T g.17527285C>T USH1C(NM_153676.3):c.434G>A (p.C145Y) - USH1C_000136 VKGL data sharing initiative Nederland PubMed: Sun 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.440A>G r.(?) p.(His147Arg) - - - likely pathogenic, pathogenic (recessive) g.17548826T>C g.17527279T>C 11:17548826T>C ENST00000005226.7:c.440A>G (His147Arg), USH1C c.440A>G, p.His147Arg - USH1C_000200 heterozygous PubMed: Carss 2017, PubMed: Turro 2020 - - Germline, Germline/De novo (untested) ? - - - - LOVD
+?/? 2 5 c.446_448del r.(?) p.(Glu149del) Coiled coil 1 (323-377) 5 ACMG likely benign g.17548822_17548824del g.17527275_17527277del - - USH1C_000073 homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - -BseRI;-BslI; - - Maria Bitner-Glindzicz
+/+, +?/. 5 5 c.463C>T r.(?) p.(Arg155*), p.(Arg155Ter) PDZ 1 (87-155) 5 - likely pathogenic, pathogenic g.17548803G>A g.17527256G>A - - USH1C_000004 heterozygous, homozygous; mutation PubMed: Bonnet 2016, PubMed: Bujakowska 2014, PubMed: Ebermann 2007, PubMed: Huang 2015 - rs377145777 Germline yes 0/200 controls - - - Anne-Françoise Roux, Crystel Bonnet
?/. 1 - c.464G>A r.(?) p.(Arg155Gln) - - ACMG VUS g.17548802C>T g.17527255C>T - - USH1C_000206 - PubMed: Sun 2018 - - Germline - - - - - LOVD
+/+, +?/. 13 5i c.496+1G>A r.spl, r.spl? p.? 1 more item 5i - likely pathogenic, pathogenic g.17548769C>T g.17527222C>T - - USH1C_000033 heterozygous, heterozygous; Pathogenic, homozygous; certainly pathogenic, homozygous; Pathogenic PubMed: Ellingford 2016, PubMed: Ganapathy 2014, PubMed: Le Quesne Stabej 2012, 1 more item - rs138138689 Germline - 0/100 controls +FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI; - - Anne-Françoise Roux, Maria Bitner-Glindzicz
+/+, +?/. 8 5i c.496+1G>T r.spl, r.spl? p.(?), p.? - 5i - likely pathogenic, pathogenic g.17548769C>A g.17527222C>A USH1C, variant 1: c.263del/p.V88Gfs*13, variant 2: c.496+1G>T/p.?, 2 more items - USH1C_000005 heterozygous, solved, compound heterozygous, 1 more item PubMed: Besnard, Garcia-Garcia 2014, PubMed: Bujakowska 2014, PubMed: Ebermann 2007, 1 more item - - Germline, Unknown ? 0/200 controls - - - Anne-Françoise Roux
-/- 22 5i c.497-79_497-78insGAGCAGGGGCAG r.(=) p.(=) - 5i - benign, pathogenic g.17548666_17548667insTGCCCCTGCTCC g.17527119_17527120insTGCCCCTGCTCC - - USH1C_000030 heterozygous, homozygous PubMed: Verpy 2000, PubMed: Zwaenepoel 2001 - - Germline - - - - - Anne-Françoise Roux
-?/. 1 - c.497-5C>T r.spl? p.? - - - likely benign g.17548592G>A g.17527045G>A USH1C(NM_153676.3):c.497-5C>T - USH1C_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 28 5i c.497-2del r.spl? p.? - 5i - benign, pathogenic g.17548589del g.17527042del - - USH1C_000029 homozygous, homozygous; Pathogenic PubMed: Rizel 2012, PubMed: Verpy 2000 - - Germline - 0/200 controls +BstUI;+MwoI; - - Anne-Françoise Roux
+/. 1 - c.497-2delA r.spl p.? - - ACMG pathogenic g.17548589del - c.497-2delA - USH1C_000029 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - Global Variome, with Curator vacancy
+?/. 1 - c.521+1G>A r.spl p.? - - - likely pathogenic g.17548562C>T g.17527015C>T - - USH1C_000214 - PubMed: Neuhaus 2017 - - Germline - - - - - LOVD
-/- 1 6i c.521+56A>G r.(=) p.(=) - 6i - benign g.17548507T>C g.17526960T>C - - USH1C_000018 heterozygous PubMed: Roux 2006 - rs41282940 Germline - - - - - Anne-Françoise Roux
-/- 1 6i c.522-45del r.(=) p.(=) - 6i - benign g.17548402del g.17526855del - - USH1C_000046 heterozygous PubMed: Roux 2011 - rs5789990 Germline - - - - - Anne-Françoise Roux
+/. 1 - c.(521+1_522-1)_(579+1_580-1)del r.? p.? - - ACMG pathogenic g.(17547989_17548299)_(17548358_17548562)del g.(17526442_17526752)_(17526811_17527015)del c.522-?_579+?del - USH1C_000202 - PubMed: Sun 2018 - - Germline - - - - - LOVD
-/? 1 7 c.569C>T r.(?) p.(Ser190Leu) PDZ 1 (87-155) 7 - pathogenic g.17548310G>A g.17526763G>A - - USH1C_000052 heterozygous; unknown effect PubMed: Aparisi 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - -Hpy188I - - Anne-Françoise Roux
+/. 1 - c.579+1G>C r.spl p.? - - ACMG pathogenic g.17548299C>G g.17526752C>G - - USH1C_000205 - PubMed: Sun 2018 - - Germline - - - - - LOVD
-/- 2 7i c.579+61G>A r.(=) p.(=) PDZ 3 (752-825) 7i - benign g.17548239C>T g.17526692C>T - - USH1C_000049 heterozygous PubMed: Besnard, Garcia-Garcia 2014, PubMed: Roux 2011 - rs72870320 Germline - - +MscI;+BsrI;-MspI;-HpaII;-Sau96I;-AvaII; - - Anne-Françoise Roux
-/- 1 7i c.580-27G>A r.(=) p.(=) - 7i - benign g.17548015C>T g.17526468C>T - - USH1C_000047 heterozygous PubMed: Roux 2011 - rs6486378 Germline - - - - - Anne-Françoise Roux
+/+, +?/. 3 7i c.580-2A>T r.(?), r.spl p.(?) PDZ 1 (87-155) 7i ACMG likely pathogenic, VUS g.17547990T>A g.17526443T>A USH1C, variant 1: c.496+1G>T/p.?, variant 2: c.580-2A>T/p.? - USH1C_000006 heterozygous, heterozygous; mutation, solved, compound heterozygous PubMed: Bonnet 2016, PubMed: Roux 2006, PubMed: Weisschuh 2020 - - Germline, Unknown ? - - - - Anne-Françoise Roux, Crystel Bonnet
+/+, +?/. 3 8 c.586C>T r.(?) p.(Arg196*) - 8 ACMG likely pathogenic, pathogenic g.17547982G>A g.17526435G>A - - USH1C_000096, USH1C_000164 homozygous; mutation PubMed: Bonnet 2016, PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano, Crystel Bonnet
?/. 1 - c.587G>A r.(?) p.(Arg196Gln) - - - VUS g.17547981C>T - USH1C(NM_153676.3):c.587G>A (p.R196Q) - USH1C_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.590del r.(?) p.(Gly197AlafsTer21) - - - pathogenic (recessive) g.17547979del g.17526432del 590delG - USH1C_000215 - PubMed: Consugar 2015 - - Germline yes - - - - LOVD
-?/? 2 8 c.598G>A r.(=) p.(Gly200Ser) - 8 ACMG likely benign g.17547970C>T g.17526423C>T - - USH1C_000089 heterozygous; potentially pathogenic PubMed: Ganapathy 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/100 controls - - - Anne-Françoise Roux
+/. 1 8 c.628A>T r.(?) p.(Lys210*) - - - pathogenic (recessive) g.17547940T>A g.17526393T>A - - USH1C_000198 - Journal: Kannan-Sundhari 2020 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.648G>A r.(?) p.(Leu216=) - - - likely benign g.17547920C>T g.17526373C>T USH1C(NM_153676.3):c.648G>A (p.L216=) - USH1C_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/? 2 8 c.653G>T r.(?) p.(Gly218Val) - - - pathogenic, VUS g.17547915C>A g.17526368C>A c.653G>T - USH1C_000163 - PubMed: Wang-2014 - - Unknown - - - - - Feng Wang
?/. 1 8 c.658C>G r.(?) p.(Arg220Gly) - - ACMG VUS g.17547910G>C - - - USH1C_000211 - PubMed: Bahena 2021 - - Germline yes - - - - Barbara Vona
+/+ 2 8 c.672C>A r.(?) p.(Cys224*) PDZ 1 (87-155) 8 ACMG likely benign, pathogenic g.17547896G>T g.17526349G>T - - USH1C_000051 homozygous; Pathogenic PubMed: Aparisi 2010 - - Germline - - +AcuI;+HpyAV;-BbvI;-Fnu4HI;-BspMI;-ApeKI; - - Anne-Françoise Roux
-/. 1 - c.674+4G>A r.spl? p.? - - - benign g.17547890C>T g.17526343C>T USH1C(NM_153676.3):c.674+4G>A - USH1C_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/? 1 8i c.674+51G>A r.(?) p.(?) - 8i - benign g.17547843C>T g.17526296C>T - - USH1C_000048 heterozygous PubMed: Roux 2011 - - Germline - - - - - Anne-Françoise Roux
-?/. 1 - c.732C>T r.(?) p.(Gly244=) - - - likely benign g.17546025G>A g.17524478G>A USH1C(NM_153676.3):c.732C>T (p.G244=) - USH1C_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 2 - c.748_759+5del r.spl? p.(?), p.? - - - likely pathogenic, pathogenic (recessive) g.17545993_17546009del, g.17545997_17546013del g.17524450_17524466del 11:17545992ACTCACCTCCAATCCCAC>A ENST00000005226.7:c.748_759+5delGTGGGATTGGAGGTGAG, 1 more item - USH1C_000199 homozygous PubMed: Carss 2017, PubMed: Turro 2020 - - Germline, Germline/De novo (untested) ? - - - - LOVD
+/+ 1 9 c.751_759+3del r.(?) p.(Val250_Glu253del) - 9 - pathogenic g.17546001_17546012del g.17524454_17524465del - - USH1C_000002 heterozygous PubMed: Ebermann 2007 - - Germline - 0/200 controls - - - Anne-Françoise Roux
-/. 1 - c.759+20C>T r.(=) p.(=) - - - benign g.17545978G>A g.17524431G>A USH1C(NM_153676.3):c.759+20C>T - USH1C_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 1 9i c.760-31A>C r.(=) p.(=) - 9i - benign g.17545056T>G g.17523509T>G - - USH1C_000017 heterozygous PubMed: Roux 2006 - - Germline - - - - - Anne-Françoise Roux
-/. 1 - c.760-4C>T r.spl? p.? - - - benign g.17545029G>A g.17523482G>A USH1C(NM_153676.3):c.760-4C>T - USH1C_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+, +/. 7 10 c.778G>T r.(?) p.(Glu260*) Coiled coil 2 (433-478);Proline rich (515-683), PDZ 2 (211-281) 10 ACMG pathogenic, pathogenic (recessive) g.17545007C>A g.17523460C>A - - USH1C_000102 homozygous Abdi accepted in Plos One, Vaché et al., submitted - - Germline no - - - - Anne-Françoise Roux, Crystel Bonnet
?/. 1 - c.785A>G r.(?) p.(Asn262Ser) - - - VUS g.17545000T>C g.17523453T>C - - USH1C_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/?, ?/. 3 10 c.793G>A r.(?) p.(Asp265Asn) - - ACMG pathogenic, VUS g.17544992C>T g.17523445C>T c.793G>A, USH1C c.[793G>A];[?], V1: c.793G>A, (p.Asp265Asn) - USH1C_000162 1 more item PubMed: Chen 2021, PubMed: Wang-2014 - - Unknown ? - - - - Feng Wang
?/. 1 - c.811C>T r.(?) p.(His271Tyr) - - - VUS g.17544974G>A g.17523427G>A USH1C(NM_153676.3):c.811C>T (p.H271Y) - USH1C_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.819+10G>C r.(=) p.(=) - - - benign, likely benign g.17544956C>G g.17523409C>G USH1C(NM_153676.3):c.819+10G>C - USH1C_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/? 1 10i c.820-61C>A r.(=) p.(=) - 11i - pathogenic g.17544875G>T g.17523328G>T - - USH1C_000076 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - - Germline - 0/96 controls +BfuCI;+DpnII;+DpnI;-MwoI;-Bsp1286I;-BsiHKAI; - - Maria Bitner-Glindzicz
-/- 5 10i c.820-59C>T r.(=) p.(=) 3'UTR 11i ACMG benign, likely benign g.17544873G>A g.17523326G>A - - USH1C_000062 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs148317033 Germline - 0/96 controls -Bsp1286I;-BsiHKAI; - - Maria Bitner-Glindzicz
-/? 2 10i c.820-51G>A r.(=) p.(=) - 11i - benign g.17544865C>T g.17523318C>T - - USH1C_000061 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - - Germline - 0/96 controls +BfaI;-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI; - - Maria Bitner-Glindzicz
+?/. 1 - c.841_848del r.(?) p.(Ser281Profs*28) - - - likely pathogenic g.17544786_17544793del g.17523239_17523246del USH1C, variant 1: c.469+1G>T/p.?, variant 2: c.841_848del/p.S281Pfs*18 - USH1C_000228 1 more item PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
?/. 1 - c.864T>G r.(?) p.(Ile288Met) - - ACMG VUS g.17544770A>C g.17523223A>C USH1C:NM_153676 c.T864G, p.I288M - USH1C_000226 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
+?/? 2 11i c.876+6T>C r.(=) p.(=) PDZ 3 (752-825) 11i ACMG benign, likely benign g.17544752A>G g.17523205A>G - - USH1C_000092 homozygous; certainly pathogenic PubMed: Ganapathy 2014 - - Germline - 0/100 controls - - - Anne-Françoise Roux
-/- 2 11i c.876+33G>A r.(=) p.(=) PDZ 1 (87-155) 11i - benign g.17544725C>T g.17523178C>T - - USH1C_000025 homozygous PubMed: Roux 2006 - rs114884519 Germline - - - - - Anne-Françoise Roux
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