Unique variants in gene USH1G


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_173477.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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     
?/. 1 - c.-4183C>T VUS r.(?) p.(=) - g.72923351G>A - OTOP2(NM_178160.2):c.484G>A (p.V162I) - OTOP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-1607C>T likely benign r.(?) p.(=) - g.72920775G>A - OTOP2(NM_178160.2):c.48G>A (p.P16=) - OTOP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 _1_3_ c.-190-?_*1992+?del pathogenic r.0? p.0? - g.72912176_72919358del - - - USH1G_000056 homozygous PubMed: Bonnet et al., 2016 - - Germline - - - - - Crystel Bonnet
+?/? 1 1 c.28C>T UV3 (ACMG: 3) r.(?) p.(Arg10Trp) - g.72919141G>A - - - USH1G_000028 heterozygous, {USMAUSH1G:R10W} {MSV3dQ495M9:p.Arg10Trp} PubMed: Yoshimura et al., 2014 - - Germline - - - - - Anne-Françoise Roux
+/? 1 1 c.46C>G UV3 (ACMG: 3) r.(?) p.(Leu16Val) - g.72919123G>C - - - USH1G_000010 heterozygous, {USMAUSH1G:L16V} {MSV3dQ495M9:p.Leu16Val} PubMed: Bonnet et al., 2011 - - Germline - 0/666 controls +MnlI;+PpuMI;+Sau96I;-BanII;-AluI;-CviKI_1; - - Anne-Françoise Roux
?/., -/-? 2 1 c.83C>T VUS, UV1 (ACMG: 2) r.(?) p.(Pro28Leu) - g.72919086G>A - - - USH1G_000022 VKGL data sharing initiative Nederland, heterozygous, {USMAUSH1G:P28L} {MSV3dQ495M9:p.Pro28Leu} PubMed: Le Quesne Stabej et al., 2012 - rs145448362 CLASSIFICATION record, Germline - 0/96 controls +MnlI;+EcoNI;+TaqI; - - VKGL-NL, Maria Bitner-Glindzicz
+/+ 1 1 c.84dupC pathogenic r.(?) p.(Asp29Argfs*29) - g.72919085dupG - - - USH1G_000011 homozygous PubMed: Bonnet et al., 2011 - - Germline - - none - - Anne-Françoise Roux
+/+ 7 1 c.113G>A pathogenic r.(?) p.(Trp38*) Ankyrin repeat 1 (31-60) g.72919056C>T - - - USH1G_000007 homozygous, Heterozygous PubMed: Ouyang et al., 2005, PubMed: Bonnet et al., 2011, PubMed: Bujakowska et al., 2014, 1 more item - rs104894652 Germline - - +BfaI;-PflMI;-BslI; - - Anne-Françoise Roux, Crystel Bonnet
-/. 1 - c.117T>G benign r.(?) p.(=) - g.72919052A>C - USH1G(NM_173477.5):c.117T>G (p.A39=) - OTOP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 3 1 c.143T>C pathogenic r.(?) p.(Leu48Pro) Ankyrin repeat 1 (31-60) g.72919026A>G - - - USH1G_000003 heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro} PubMed: Weil et al., 2003, PubMed: Krawitz et al., 2014 - rs104894651 Germline - 0/160 controls - - - Anne-Françoise Roux, Peter Krawitz
+/+ 4 1_1i c.163_164+13del pathogenic r.spl p.? - g.72918992_72919006del - - - USH1G_000008 homozygous PubMed: Bashir et al., 2010 - - Germline - 0/200 controls - - - Anne-Françoise Roux
-/. 1 - c.164+12C>A benign r.(=) p.(=) - g.72918993G>T - USH1G(NM_173477.5):c.164+12C>A - USH1G_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/-? 2 1i c.164+118G>A UV1 (ACMG: 2) r.(=) p.(=) - g.72918887C>T - - - USH1G_000017 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/96 controls none - - Maria Bitner-Glindzicz
+/., +/+ 4 2 c.186_187del pathogenic r.(?) p.(Ile63Leufs*71) - g.72916745_72916746del, g.72916744_72916745del - 186_187delCA - USH1G_000002 VKGL data sharing initiative Nederland, Heterozygous PubMed: Weil et al., 2003, PubMed: Krawitz et al., 2014 - - CLASSIFICATION record, Germline - 0/160 controls - - - VKGL-NL, Anne-Françoise Roux, Peter Krawitz
+/+ 1 2 c.206_207insC pathogenic r.(?) p.(His70Alafs*65) Ankyrin repeat 2 (64-93) g.72916724_72916725insG - - - USH1G_000026 homozygous PubMed: Rizel et al., 2012 - - Germline - 0/98 controls +MnlI;-BslI;-HpyCH4V; - - Anne-Françoise Roux
?/., +?/., +?/? 3 2 c.310A>G VUS, likely pathogenic, UV3 (ACMG: 3) r.(?) p.(Met104Val) Ankyrin repeat 3 (97-126) g.72916621T>C - USH1G(NM_001282489.2):c.1A>G (p.M1?), USH1G(NM_001282489.3):c.1A>G (p.M1?) - USH1G_000030 VKGL data sharing initiative Nederland, heterozygous, {USMAUSH1G:M104V} {MSV3dQ495M9:p.Met104Val} PubMed: Oonk et al., 2014 - rs149529031 CLASSIFICATION record, Germline - 0/350 controls - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, Anne-Françoise Roux
?/. 1 - c.320T>C VUS r.(?) p.(Met107Thr) - g.72916611A>G - USH1G(NM_173477.4):c.320T>C (p.M107T) - USH1G_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 2 2 c.387dup pathogenic r.(?) p.(Lys130Glnfs*5) Central (127-384) g.72916544dup - 387dupC - USH1G_000054 homozygous PubMed: Bonnet et al., 2016 - - Germline - - - - - Crystel Bonnet
-/- 3 2 c.388A>G UV1 (ACMG: 2) r.(?) p.(Lys130Glu) Central (127-384) g.72916543T>C - 387G>A (Lys130Glu) - USH1G_000015 heterozygous, {USMAUSH1G:K130E} {MSV3dQ495M9:p.Lys130Glu} PubMed: Aparisi et al., 2014, PubMed: Le Quesne Stabej et al., 2012 - rs111033465 Germline - 0/878 controls +BsoBI;+AvaI;-BstXI; - - Jose Maria Millan, Maria Bitner-Glindzicz
?/. 1 - c.392T>G VUS r.(?) p.(Leu131Arg) - g.72916539A>C - USH1G(NM_173477.4):c.392T>G (p.L131R) - USH1G_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 8 2 c.393dup pathogenic r.(?) p.(Val132Glyfs*3) Central (127-384) g.72916538dup - - - USH1G_000005 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - Anne-Françoise Roux
-/-? 1 2 c.424G>A UV2 (ACMG: 2) r.? p.(Glu142Lys) Central (127-384) g.72916507C>T - 423G>A (Glu142Lys) - USH1G_000031 heterozygous, {USMAUSH1G:E142K} {MSV3dQ495M9:p.Glu142Lys} PubMed: Aparisi et al., 2014 - rs111033466 Germline - - - - - Jose Maria Millan
-/., -?/., -/-? 3 2 c.501C>G benign, likely benign, UV1 (ACMG: 2) r.(?) p.(=) Central (127-384) g.72916430G>C - USH1G(NM_173477.4):c.501C>G (p.R167=), USH1G(NM_173477.5):c.501C>G (p.R167=) - USH1G_000023 VKGL data sharing initiative Nederland, Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs141688757 CLASSIFICATION record, Germline - 1/844 controls +FauI;+AciI;-BstUI;-HinP1I;-HhaI; - - VKGL-NL_AMC, VKGL-NL_Rotterdam, Maria Bitner-Glindzicz
-/., -?/. 2 - c.510C>G benign, likely benign r.(?) p.(=) - g.72916421G>C - USH1G(NM_173477.4):c.510C>G (p.A170=), USH1G(NM_173477.5):c.510C>G (p.A170=) - USH1G_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/., -?/. 3 - c.566G>A VUS, likely benign r.(?) p.(Arg189Gln) - g.72916365C>T - USH1G(NM_173477.4):c.566G>A (p.R189Q), USH1G(NM_173477.5):c.566G>A (p.R189Q) - USH1G_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.635G>C VUS r.(?) p.(Gly212Ala) - g.72916296C>G - USH1G(NM_173477.4):c.635G>C (p.G212A) - OTOP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/-? 1 2 c.678C>A UV1 (ACMG: 2) r.(?) p.(=) Central (127-384) g.72916253G>T - - - USH1G_000016 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/878 controls +MnlI;-Fnu4HI;-MwoI;-AciI; - - Maria Bitner-Glindzicz
-/., -?/., -/- 5 2 c.705G>A benign, likely benign, UV1 (ACMG: 2) r.(?) p.(=) Central (127-384) g.72916226C>T - USH1G(NM_173477.4):c.705G>A (p.E235=), USH1G(NM_173477.5):c.705G>A (p.E235=) - USH1G_000013 VKGL data sharing initiative Nederland, Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs149002004 CLASSIFICATION record, Germline - 1/842 controls +MboII;-BtsCI;-FokI;-BsaJI;-MnlI; - - VKGL-NL_AMC, VKGL-NL_Rotterdam, Maria Bitner-Glindzicz
+/+ 3 2 c.728C>A pathogenic r.(?) p.(Ser243*) Central (127-384) g.72916203G>T - - - USH1G_000009 homozygous PubMed: Imtiaz et al., 2012 - - Germline - 0/300 controls +BmtI;+NheI;+AluI;+BfaI;+CviKI_1;-BsrBl; - - Anne-Françoise Roux
+/+ 2 2 c.742C>T pathogenic r.(?) p.(Gln248*) Central (127-384) g.72916189G>A - - - USH1G_000053 homozygous PubMed: Bonnet et al., 2016 - rs773231689 Germline - - - - - Crystel Bonnet
?/. 1 - c.746T>A VUS r.(?) p.(Leu249Gln) - g.72916185A>T - USH1G(NM_173477.4):c.746T>A (p.L249Q) - OTOP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.756C>T likely benign, benign r.(?) p.(=) - g.72916175G>A - USH1G(NM_173477.4):c.756C>T (p.D252=), USH1G(NM_173477.5):c.756C>T (p.D252=) - USH1G_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 1 2 c.780_781insGCAC pathogenic r.(?) p.(Tyr261Alafs*96) Central (127-384) g.72916150_72916151insGTGC - 780insGCAC - USH1G_000029 Heterozygous PubMed: Oonk et al., 2014 - - Germline - 0/350 controls - - - Anne-Françoise Roux
+/+ 1 2 c.800G>A pathogenic r.(?) p.(Trp267*) Central (127-384) g.72916131C>T - - - USH1G_000057 Heterozygous PubMed: Bonnet et al., 2016 - - Germline - - - - - Crystel Bonnet
+/+? 1 2 c.805C>T UV4 (ACMG: 4) r.(?) p.(Arg269*) Central (127-384) g.72916126G>A - - - USH1G_000032 Heterozygous PubMed: Aparisi et al., 2014 - - Germline - - - - - Anne-Françoise Roux
+/+ 3 2 c.829_848del pathogenic r.(?) p.(Ser278Profs*71) Central (127-384) g.72916083_72916102del - - - USH1G_000004 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - Anne-Françoise Roux
?/. 2 - c.837C>G VUS r.(?) p.(Asp279Glu) - g.72916094G>C - USH1G(NM_173477.4):c.837C>G (p.D279E), USH1G(NM_173477.5):c.837C>G (p.D279E) - USH1G_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.1011T>G likely benign r.(?) p.(Asp337Glu) - g.72915920A>C - USH1G(NM_173477.4):c.1011T>G (p.D337E) - OTOP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1060G>C VUS r.(?) p.(Asp354His) - g.72915871C>G - USH1G(NM_173477.4):c.1060G>C (p.D354H) - OTOP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/-? 1 2 c.1152C>T UV1 (ACMG: 2) r.(?) p.(=) Central (127-384) g.72915779G>A - - - USH1G_000019 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/878 controls +AlwI;+BstYI;+Sau3AI;-BssKI;-StyD4I;-BstNI; - - Maria Bitner-Glindzicz
+/? 1 2 c.1188_1190del UV3 (ACMG: 3) r.(?) p.(Ala397del) SAM (385-447) g.72915741_72915743del - - - USH1G_000058 homozygous Abdi et al., accepted in Plos One - - Germline - - - - - Crystel Bonnet
?/., -/-? 3 2 c.1258C>G VUS, UV2 (ACMG: 2) r.(?) p.(Leu420Val) SAM (385-447) g.72915673G>C - USH1G(NM_173477.4):c.1258C>G (p.L420V) - USH1G_000027 VKGL data sharing initiative Nederland, heterozygous, {USMAUSH1G:L420V} {MSV3dQ495M9:p.Leu420Val} PubMed: Glöcke et al., 2013 - rs139897506 CLASSIFICATION record, Germline - - +BccI ;-SfaNI; - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, Anne-Françoise Roux
+?/? 1 2 c.1339C>T UV3 (ACMG: 3) r.(?) p.(Arg447Trp) SAM (385-447) g.72915592G>A - - - USH1G_000033 heterozygous, {USMAUSH1G:R447W} {MSV3dQ495M9:p.(Arg447Trp} PubMed: Lenarduzzi et al., 2015 - - Germline - - - - - Anne-Françoise Roux
+/+ 6 2 c.1373A>T pathogenic r.(?) p.(Asp458Val) - g.72915558T>A - - - USH1G_000006 homozygous, {USMAUSH1G:D458V} {MSV3dQ495M9:p.Asp458Val} PubMed: Kalay et al., 2005 - - Germline - 1/498 controls - - - Anne-Françoise Roux
-/-? 1 2i c.1383-63T>A UV1 (ACMG: 2) r.(=) p.(=) - g.72914234A>T - - - USH1G_000018 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/96 controls -HphI - - Maria Bitner-Glindzicz
-?/. 1 - c.1383-4A>G likely benign r.spl? p.? - g.72914175T>C - USH1G(NM_173477.4):c.1383-4A>G - USH1G_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 2i_3_ c.1383-?_*1992+?del pathogenic r.? p.? - g.72912176_72914171del - - - USH1G_000055 Heterozygous PubMed: Bonnet et al., 2016 - - Germline - - - - - Crystel Bonnet
-?/. 1 - c.*13C>T likely benign r.(=) p.(=) - g.72914155G>A - USH1G(NM_173477.5):c.*10C>T - USH1G_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/-? 1 3 c.*64G>A UV1 (ACMG: 2) r.(=) p.(=) - g.72914104C>T - - - USH1G_000024 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - - +BpuEI;-XhoI;-TliI;-MnlI;-AvaI;-BsoBI; - - Maria Bitner-Glindzicz
-/-? 1 3 c.*215T>C UV1 (ACMG: 2) r.(=) p.(=) - g.72913953A>G - - - USH1G_000014 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/96 controls +BsaJI;-DdeI;-BspCNI; - - Maria Bitner-Glindzicz
-/-? 2 3 c.*1163_*1164del UV1 (ACMG: 2) r.(=) p.(=) - g.72913004_72913005del - *1163_*1164delTG - USH1G_000020 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/96 controls none - - Maria Bitner-Glindzicz
-/- 1 3 c.*1659T>C - r.(=) p.(=) - g.72912509A>G - - - USH1G_000021 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs8067775 Germline - - +HpyCH4IV,+PmlI,+BsaAI;-NspI;-FatI;-NlaIII; - - Maria Bitner-Glindzicz
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