Full data view for 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.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-4183C>T r.(?) p.(=) - Unknown - VUS g.72923351G>A g.74927256G>A OTOP2(NM_178160.2):c.484G>A (p.V162I) - OTOP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1607C>T r.(?) p.(=) - Unknown - likely benign g.72920775G>A g.74924680G>A OTOP2(NM_178160.2):c.48G>A (p.P16=) - OTOP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ _1_3_ c.-190-?_*1992+?del r.0? p.0? - Both (homozygous) - pathogenic g.72912176_72919358del g.74916083_74923265del - - USH1G_000056 homozygous PubMed: Bonnet et al., 2016 - - Germline - - - - - DNA PCRq, arrayCGH - - USH1 - PubMed: Bonnet et al., 2016 - M - Italy - - - - - 1 Crystel Bonnet
?/. - c.? r.? p.? - Unknown - VUS g.? - c.1246C>T - MYH2_000008 variant found in controls PubMed: Liu 2015 - - Germline no - - - - DNA SEQ-NG - 316-gene panel retinal disease RH7 PubMed: Liu 2015 - - - China - - - - - 1 LOVD
?/. 1 c.22G>C r.(?) p.(Ala8Pro) - Both (homozygous) - VUS g.72919147C>G g.74923052C>G - - USH1G_000076 - - - - Germline - - - - - DNA SEQ-NG-I - - DFNB - - - M yes Pakistan - - - - - 1 Hina Khan
+?/? 1 c.28C>T r.(?) p.(Arg10Trp) - Unknown ACMG VUS g.72919141G>A g.74923046G>A - - USH1G_000028 heterozygous, {USMAUSH1G:R10W} {MSV3dQ495M9:p.Arg10Trp} PubMed: Yoshimura et al., 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Yoshimura et al., 2014 proband - - Japan - - - - - 1 Anne-Françoise Roux
+/? 1 c.46C>G r.(?) p.(Leu16Val) - Unknown ACMG VUS g.72919123G>C g.74923028G>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; - - DNA SEQ - - USH1 - PubMed: Bonnet et al., 2011 proband - - - - - - - - 1 Anne-Françoise Roux
?/. - c.49_51del r.(?) p.(Leu17del) - Unknown ACMG VUS g.72919121_72919123del g.74923026_74923028del 49_51delCTC - USH1G_000065 ACMG PM2, PM3_P, PM4 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB368-719 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+/. - c.52A>T r.(?) p.(Lys18Ter) - Both (homozygous) - pathogenic (recessive) g.72919117T>A g.74923022T>A - - USH1G_000025 - PubMed: Riahi 2015 - - Germline yes - - - - DNA SEQ-NG - WES deafness FamDF25 PubMed: Riahi 2015 5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - 3 LOVD
?/. - c.83C>T r.(?) p.(Pro28Leu) - Unknown - VUS g.72919086G>A g.74922991G>A USH1G(NM_173477.4):c.83C>T (p.P28L) - USH1G_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? 1 c.83C>T r.(?) p.(Pro28Leu) - Unknown ACMG likely benign g.72919086G>A g.74922991G>A - - USH1G_000022 heterozygous, {USMAUSH1G:P28L} {MSV3dQ495M9:p.Pro28Leu} PubMed: Le Quesne Stabej et al., 2012 - rs145448362 Germline - 0/96 controls +MnlI;+EcoNI;+TaqI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
?/. - c.83C>T r.(?) p.(Pro28Leu) - Unknown - VUS g.72919086G>A - USH1G(NM_173477.4):c.83C>T (p.P28L) - USH1G_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.84dup r.(?) p.(Asp29Argfs*29) - Both (homozygous) - pathogenic g.72919089dup g.74922994dup - - USH1G_000011 homozygous PubMed: Bonnet et al., 2011 - - Germline - - none - - DNA SEQ - - USH1 - PubMed: Bonnet et al., 2011 proband - - - - - - - - 1 Anne-Françoise Roux
+?/. - c.84dup r.(?) p.(Asp29Argfs*29) - Parent #1 - likely pathogenic g.72919089dup g.74922994dup USH1G, variant 1: c.84dup/p.D29Rfs*29, variant 2: c.84dup/p.D29Rfs*29 - USH1G_000011 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 21 PubMed: Weisschuh 2020 Filing key number: 11, Usher syndrome type I, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/+ 1 c.113G>A r.(?) p.(Trp38*) Ankyrin repeat 1 (31-60) Both (homozygous) - pathogenic g.72919056C>T g.74922961C>T - - USH1G_000007 homozygous PubMed: Ouyang et al., 2005 - rs104894652 Germline - - +BfaI;-PflMI;-BslI; - - DNA SEQ - - USH1 - PubMed: Ouyang et al., 2005 proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.113G>A r.(?) p.(Trp38*) Ankyrin repeat 1 (31-60) Both (homozygous) - pathogenic g.72919056C>T g.74922961C>T - - USH1G_000007 homozygous PubMed: Ouyang et al., 2005 - rs104894652 Germline - - +BfaI;-PflMI;-BslI; - - DNA SEQ - - USH1 - PubMed: Ouyang et al., 2005 proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.113G>A r.(?) p.(Trp38*) Ankyrin repeat 1 (31-60) Unknown - pathogenic g.72919056C>T g.74922961C>T - - USH1G_000007 Heterozygous PubMed: Bonnet et al., 2011 - rs104894652 Germline - - +BfaI;-PflMI;-BslI; - - DNA SEQ - - USH1 - PubMed: Bonnet et al., 2011 proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.113G>A r.(?) p.(Trp38*) Ankyrin repeat 1 (31-60) Both (homozygous) - pathogenic g.72919056C>T g.74922961C>T - - USH1G_000007 homozygous PubMed: Bujakowska et al., 2014 - rs104894652 Germline - - +BfaI;-PflMI;-BslI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska et al., 2014 proband M - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.113G>A r.(?) p.(Trp38*) Ankyrin repeat 1 (31-60) Both (homozygous) - pathogenic g.72919056C>T g.74922961C>T - - USH1G_000007 homozygous PubMed: Bujakowska et al., 2014 - rs104894652 Germline - - +BfaI;-PflMI;-BslI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska et al., 2014 relative M - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.113G>A r.(?) p.(Trp38*) Ankyrin repeat 1 (31-60) Both (homozygous) - pathogenic g.72919056C>T g.74922961C>T - - USH1G_000007 homozygous PubMed: Bujakowska et al., 2014 - rs104894652 Germline - - +BfaI;-PflMI;-BslI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska et al., 2014 relative F - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.113G>A r.(?) p.(Trp38*) Ankyrin repeat 1 (31-60) Parent #1 - pathogenic g.72919056C>T g.74922961C>T - - USH1G_000007 Heterozygous PubMed: Bonnet et al., 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S, PCRq - - USH1 - PubMed: Bonnet et al., 2016 - M - France - - - - - 1 Crystel Bonnet
+?/. 1 c.113G>A r.(?) p.(Trp38*) - Both (homozygous) - likely pathogenic g.72919056C>T - USH1G:c.113G>A,p.W38X - USH1G_000007 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
?/. - c.116C>T r.(?) p.(Ala39Val) - Unknown - VUS g.72919053G>A - USH1G(NM_173477.4):c.116C>T (p.A39V) - OTOP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117T>G r.(?) p.(Ala39=) - Unknown - benign g.72919052A>C g.74922957A>C USH1G(NM_173477.5):c.117T>G (p.A39=) - OTOP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.143T>C r.(?) p.(Leu48Pro) Ankyrin repeat 1 (31-60) Parent #2 - pathogenic g.72919026A>G g.74922931A>G - - USH1G_000003 heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro} PubMed: Weil et al., 2003 - rs104894651 Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 proband M - Germany - - - - - 1 Anne-Françoise Roux
+/+ 1 c.143T>C r.(?) p.(Leu48Pro) Ankyrin repeat 1 (31-60) Parent #2 - pathogenic g.72919026A>G g.74922931A>G - - USH1G_000003 heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro} PubMed: Weil et al., 2003 - rs104894651 Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 relative M - Germany - - - - - 1 Anne-Françoise Roux
+/+ 1 c.143T>C r.(?) p.(Leu48Pro) Ankyrin repeat 1 (31-60) Unknown - pathogenic g.72919026A>G g.74922931A>G - - USH1G_000003 heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro} PubMed: Krawitz et al., 2014 - rs104894651 Germline - - - - - DNA SEQ-NG-S - - USH1 - PubMed: Krawitz et al., 2014 proband F - Germany - - - - - 1 Peter Krawitz
+/+ 1_1i c.163_164+13del r.spl p.? - Both (homozygous) - pathogenic g.72918993_72919007del g.74922898_74922912del - - USH1G_000008 homozygous PubMed: Bashir et al., 2010 - - Germline - 0/200 controls - - - DNA SEQ - - USH - PubMed: Bashir et al., 2010 proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 1_1i c.163_164+13del r.spl p.? - Both (homozygous) - pathogenic g.72918993_72919007del g.74922898_74922912del - - USH1G_000008 homozygous PubMed: Bashir et al., 2010 - - Germline - 0/200 controls - - - DNA SEQ - - USH - PubMed: Bashir et al., 2010 relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 1_1i c.163_164+13del r.spl p.? - Both (homozygous) - pathogenic g.72918993_72919007del g.74922898_74922912del - - USH1G_000008 homozygous PubMed: Bashir et al., 2010 - - Germline - 0/200 controls - - - DNA SEQ - - USH - PubMed: Bashir et al., 2010 relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 1_1i c.163_164+13del r.spl p.? - Both (homozygous) - pathogenic g.72918993_72919007del g.74922898_74922912del - - USH1G_000008 homozygous PubMed: Bashir et al., 2010 - - Germline - 0/200 controls - - - DNA SEQ - - USH - PubMed: Bashir et al., 2010 relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/. - c.163_164+13del r.? p.(Gly55GlyfsX56)* - Both (homozygous) - pathogenic (recessive) g.72918993_72919007del g.74922898_74922912del - - USH1G_000008 - PubMed: Bashir 2010, PubMed: Naz 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL HLRB12 PubMed: Bashir 2010, PubMed: Naz 2017 family, 3 affected - - Pakistan Punjab - - - - 3 Johan den Dunnen
+?/. - c.164+5G>A r.154_164del p.? - Both (homozygous) - VUS g.72919000C>T g.74922905C>T - - USH1G_000064 effect on splicing predicted from mini-gene splicing assay PubMed: Chen 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL FamF PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.164+5G>A r.spl? p.? - Unknown ACMG VUS g.72919000C>T g.74922905C>T - - USH1G_000064 ACMG PM2_P, PM3_M PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB368-719 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
-/. - c.164+12C>A r.(=) p.(=) - Unknown - benign g.72918993G>T g.74922898G>T USH1G(NM_173477.5):c.164+12C>A - USH1G_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? 1i c.164+118G>A r.(=) p.(=) - Unknown ACMG likely benign g.72918887C>T g.74922792C>T - - USH1G_000017 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/96 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/-? 1i c.164+118G>A r.(=) p.(=) - Unknown ACMG likely benign g.72918887C>T g.74922792C>T - - USH1G_000017 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/96 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 2 c.186_187del r.(?) p.(Ile63Leufs*71) - Parent #1 - pathogenic g.72916745_72916746del g.74920650_74920651del 186_187delCA - USH1G_000002 Heterozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 proband M - Germany - - - - - 1 Anne-Françoise Roux
+/+ 2 c.186_187del r.(?) p.(Ile63Leufs*71) - Parent #1 - pathogenic g.72916745_72916746del g.74920650_74920651del 186_187delCA - USH1G_000002 Heterozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 relative M - Germany - - - - - 1 Anne-Françoise Roux
+/+ 2 c.186_187del r.(?) p.(Ile63Leufs*71) - Unknown - pathogenic g.72916745_72916746del g.74920650_74920651del 186_187delCA - USH1G_000002 Heterozygous PubMed: Krawitz et al., 2014 - - Germline - - - - - DNA SEQ-NG-S - - USH1 - PubMed: Krawitz et al., 2014 proband F - Germany - - - - - 1 Peter Krawitz
+/. - c.186_187del r.(?) p.(Ile63LeufsTer71) - Unknown - pathogenic g.72916745_72916746del g.74920650_74920651del - - USH1G_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.205dup r.(?) p.(Leu69Profs*66) - Unknown ACMG pathogenic g.72916726dup - - - USH1G_000062 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.206_207insC r.(?) p.(His70Alafs*65) Ankyrin repeat 2 (64-93) Both (homozygous) - pathogenic g.72916724_72916725insG g.74920629_74920630insG - - USH1G_000026 homozygous PubMed: Rizel et al., 2012 - - Germline - 0/98 controls +MnlI;-BslI;-HpyCH4V; - - DNA SEQ - - USH1 - PubMed: Rizel et al., 2012 proband M - Israel - - - - - 1 Anne-Françoise Roux
+?/. - c.208_209insTC r.(?) p.(His70Leufs*26) - Parent #1 - likely pathogenic g.72916723_72916724insAG g.74920628_74920629insAG USH1G, variant 1: c.208_209insTC/p.H70Lfs*26, variant 2: c.208_209insTC/p.H70Lfs*26 - USH1G_000072 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 208 PubMed: Weisschuh 2020 Filing key number: 74, Usher syndrome type I, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.208_209insTC r.(?) p.(His70Leufs*26) - Parent #1 - likely pathogenic g.72916723_72916724insAG g.74920628_74920629insAG USH1G, variant 1: c.208_209insTC/p.H70Lfs*26, variant 2: c.208_209insTC/p.H70Lfs*26 - USH1G_000072 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 209 PubMed: Weisschuh 2020 Filing key number: 74, Usher syndrome type I, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.231C>G r.(?) p.(His77Gln) - Unknown - VUS g.72916700G>C - USH1G(NM_173477.4):c.231C>G (p.H77Q) - OTOP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.251T>C r.(?) p.(Leu84Pro) - Both (homozygous) - likely pathogenic g.72916680A>G g.74920585A>G - - USH1G_000067 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 541 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
?/. 2 c.253G>A r.(?) p.(Val85Met) - Unknown - VUS g.72916678C>T g.74920583C>T G253A - USH1G_000070 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#021 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/? 2 c.310A>G r.(?) p.(Met104Val) Ankyrin repeat 3 (97-126) Paternal (confirmed) ACMG VUS g.72916621T>C g.74920526T>C - - USH1G_000030 heterozygous, {USMAUSH1G:M104V} {MSV3dQ495M9:p.Met104Val} PubMed: Oonk et al., 2014 - rs149529031 Germline - 0/350 controls - - - DNA SEQ - - deafness - PubMed: Oonk et al., 2014 relative F - Netherlands - - - - - 1 Anne-Françoise Roux
?/. - c.310A>G r.(?) p.(Met104Val) - Unknown - VUS g.72916621T>C g.74920526T>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.310A>G r.(?) p.(Met104Val) - Unknown - likely pathogenic g.72916621T>C g.74920526T>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.310A>G r.(?) p.(Met104Val) - Unknown - VUS g.72916621T>C g.74920526T>C - - USH1G_000030 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71674 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. - c.310A>G r.(?) p.(Met104Val) - Both (homozygous) ACMG likely pathogenic (recessive) g.72916621T>C g.74920526T>C - - USH1G_000030 ACMG PM2, PVS1_MODERATE, PP5_STRONG PubMed: Weisschuh 2024 166402 - Germline - - - - - DNA SEQ-NG - WGS ? USHII-339 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.320T>C r.(?) p.(Met107Thr) - Unknown - VUS g.72916611A>G g.74920516A>G USH1G(NM_173477.4):c.320T>C (p.M107T) - USH1G_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.387dup r.(?) p.(Lys130Glnfs*5) Central (127-384) Paternal (inferred) - pathogenic g.72916547dup g.74920452dup 387dupC - USH1G_000054 homozygous PubMed: Bonnet et al., 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet et al., 2016 - M - Germany - - - - - 1 Crystel Bonnet
+/+ 2 c.387dup r.(?) p.(Lys130Glnfs*5) Central (127-384) Maternal (inferred) - pathogenic g.72916547dup g.74920452dup 387dupC - USH1G_000054 homozygous PubMed: Bonnet et al., 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet et al., 2016 - M - Germany - - - - - 1 Crystel Bonnet
-/- 2 c.388A>G r.(?) p.(Lys130Glu) Central (127-384) Unknown ACMG likely benign g.72916543T>C g.74920448T>C 387G>A (Lys130Glu) - USH1G_000015 heterozygous, {USMAUSH1G:K130E} {MSV3dQ495M9:p.Lys130Glu} PubMed: Aparisi et al., 2014 - rs111033465 Germline - - +BsoBI;+AvaI;-BstXI; - - DNA SEQ - - USH1 - PubMed: Jaijo et al., 2010 proband - - Spain - - - - - 1 Jose Maria Millan
-/- 2 c.388A>G r.(?) p.(Lys130Glu) Central (127-384) Unknown ACMG likely benign g.72916543T>C g.74920448T>C - - USH1G_000015 heterozygous, {USMAUSH1G:K130E} {MSV3dQ495M9:p.Lys130Glu} PubMed: Le Quesne Stabej et al., 2012 - rs111033465 Germline - 0/878 controls +BsoBI;+AvaI;-BstXI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 2 c.388A>G r.(?) p.(Lys130Glu) Central (127-384) Unknown ACMG likely benign g.72916543T>C g.74920448T>C - - USH1G_000015 heterozygous, {USMAUSH1G:K130E} {MSV3dQ495M9:p.Lys130Glu} PubMed: Le Quesne Stabej et al., 2012 - rs111033465 Germline - 0/878 controls +BsoBI;+AvaI;-BstXI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
?/. - c.392T>G r.(?) p.(Leu131Arg) - Unknown - VUS g.72916539A>C g.74920444A>C USH1G(NM_173477.4):c.392T>G (p.L131R) - USH1G_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.394dup r.(?) p.(Val132Glyfs*3) Central (127-384) Both (homozygous) - pathogenic g.72916538dup g.74920443dup - - USH1G_000005 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 relative F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.394dup r.(?) p.(Val132Glyfs*3) Central (127-384) Both (homozygous) - pathogenic g.72916538dup g.74920443dup - - USH1G_000005 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 relative F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.394dup r.(?) p.(Val132Glyfs*3) Central (127-384) Both (homozygous) - pathogenic g.72916538dup g.74920443dup - - USH1G_000005 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 relative F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.394dup r.(?) p.(Val132Glyfs*3) Central (127-384) Both (homozygous) - pathogenic g.72916538dup g.74920443dup - - USH1G_000005 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 relative M - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.394dup r.(?) p.(Val132Glyfs*3) Central (127-384) Both (homozygous) - pathogenic g.72916538dup g.74920443dup - - USH1G_000005 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 relative F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.394dup r.(?) p.(Val132Glyfs*3) Central (127-384) Both (homozygous) - pathogenic g.72916538dup g.74920443dup - - USH1G_000005 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 proband M - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.394dup r.(?) p.(Val132Glyfs*3) Central (127-384) Both (homozygous) - pathogenic g.72916538dup g.74920443dup - - USH1G_000005 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 relative F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.394dup r.(?) p.(Val132Glyfs*3) Central (127-384) Both (homozygous) - pathogenic g.72916538dup g.74920443dup - - USH1G_000005 homozygous PubMed: Weil et al., 2003 - - Germline - 0/160 controls - - - DNA SEQ - - USH1 - PubMed: Weil et al., 2003 relative M - Tunisia - - - - - 1 Anne-Françoise Roux
-/-? 2 c.424G>A r.(?) p.(Glu142Lys) Central (127-384) Unknown ACMG likely benign g.72916507C>T g.74920412C>T 423G>A (Glu142Lys) - USH1G_000031 heterozygous, {USMAUSH1G:E142K} {MSV3dQ495M9:p.Glu142Lys} PubMed: Aparisi et al., 2014 - rs111033466 Germline - - - - - DNA SEQ - - USH1 - PubMed: Jaijo et al., 2010 proband - - Spain - - - - - 1 Jose Maria Millan
?/. - c.433C>T r.(?) p.(Arg145Trp) - Unknown - VUS g.72916498G>A - USH1G(NM_173477.4):c.433C>T (p.R145W) - OTOP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.501C>G r.(?) p.(Arg167=) - Unknown - likely benign g.72916430G>C g.74920335G>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? 2 c.501C>G r.(?) p.(=) Central (127-384) Unknown ACMG likely benign g.72916430G>C g.74920335G>C - - USH1G_000023 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs141688757 Germline - 1/844 controls +FauI;+AciI;-BstUI;-HinP1I;-HhaI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/. - c.501C>G r.(?) p.(Arg167=) - Unknown - benign g.72916430G>C g.74920335G>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.510C>G r.(?) p.(Ala170=) - Unknown - benign g.72916421G>C g.74920326G>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510C>G r.(?) p.(Ala170=) - Unknown - likely benign g.72916421G>C g.74920326G>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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.511G>T r.(?) p.(Glu171*) - Both (homozygous) - likely pathogenic (recessive) g.72916420C>A g.74920325C>A - - USH1G_000066 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 13007440 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.511G>T r.(?) p.(Glu171Ter) - Both (homozygous) ACMG pathogenic (recessive) g.72916420C>A g.74920325C>A - - USH1G_000066 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4675 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.566G>A r.(?) p.(Arg189Gln) - Unknown - likely benign g.72916365C>T g.74920270C>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566G>A r.(?) p.(Arg189Gln) - Unknown - likely benign g.72916365C>T g.74920270C>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566G>A r.(?) p.(Arg189Gln) - Unknown - VUS g.72916365C>T g.74920270C>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635G>C r.(?) p.(Gly212Ala) - Unknown - VUS g.72916296C>G g.74920201C>G USH1G(NM_173477.4):c.635G>C (p.G212A) - OTOP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? 2 c.678C>A r.(?) p.(=) Central (127-384) Maternal (confirmed) ACMG likely benign g.72916253G>T g.74920158G>T - - USH1G_000016 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - - Germline - 0/878 controls +MnlI;-Fnu4HI;-MwoI;-AciI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-?/. - c.678C>A r.(?) p.(=) - Unknown - likely benign g.72916253G>T - USH1G(NM_173477.5):c.678C>A (p.G226=) - USH1G_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705G>A r.(?) p.(Glu235=) - Unknown - likely benign g.72916226C>T g.74920131C>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.705G>A r.(?) p.(=) Central (127-384) Unknown ACMG likely benign g.72916226C>T g.74920131C>T - - USH1G_000013 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs149002004 Germline - 1/842 controls +MboII;-BtsCI;-FokI;-BsaJI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 2 c.705G>A r.(?) p.(=) Central (127-384) Maternal (confirmed) ACMG likely benign g.72916226C>T g.74920131C>T - - USH1G_000013 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs149002004 Germline - 1/842 controls +MboII;-BtsCI;-FokI;-BsaJI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 2 c.705G>A r.(?) p.(=) Central (127-384) Unknown ACMG likely benign g.72916226C>T g.74920131C>T - - USH1G_000013 Heterozygous PubMed: Le Quesne Stabej et al., 2012 - rs149002004 Germline - 1/842 controls +MboII;-BtsCI;-FokI;-BsaJI;-MnlI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/. - c.705G>A r.(?) p.(Glu235=) - Unknown - benign g.72916226C>T g.74920131C>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.728C>A r.(?) p.(Ser243*) Central (127-384) Both (homozygous) - pathogenic g.72916203G>T g.74920108G>T - - USH1G_000009 homozygous PubMed: Imtiaz et al., 2012 - - Germline - 0/300 controls +BmtI;+NheI;+AluI;+BfaI;+CviKI_1;-BsrBl; - - DNA SEQ - - USH1 - PubMed: Imtiaz et al., 2012 proband F - Saudi Arabia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.728C>A r.(?) p.(Ser243*) Central (127-384) Both (homozygous) - pathogenic g.72916203G>T g.74920108G>T - - USH1G_000009 homozygous PubMed: Imtiaz et al., 2012 - - Germline - - +BmtI;+NheI;+AluI;+BfaI;+CviKI_1;-BsrBl; - - DNA SEQ - - USH1 - PubMed: Imtiaz et al., 2012 relative M - Saudi Arabia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.728C>A r.(?) p.(Ser243*) Central (127-384) Both (homozygous) - pathogenic g.72916203G>T g.74920108G>T - - USH1G_000009 homozygous PubMed: Imtiaz et al., 2012 - - Germline - - +BmtI;+NheI;+AluI;+BfaI;+CviKI_1;-BsrBl; - - DNA SEQ - - USH1 - PubMed: Imtiaz et al., 2012 relative F - Saudi Arabia - - - - - 1 Anne-Françoise Roux
+/+ 2 c.742C>T r.(?) p.(Gln248*) Central (127-384) Paternal (inferred) - pathogenic g.72916189G>A g.74920094G>A - - USH1G_000053 homozygous PubMed: Bonnet et al., 2016 - rs773231689 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet et al., 2016 - - - France - - - - - 1 Crystel Bonnet
+/+ 2 c.742C>T r.(?) p.(Gln248*) Central (127-384) Maternal (inferred) - pathogenic g.72916189G>A g.74920094G>A - - USH1G_000053 homozygous PubMed: Bonnet et al., 2016 - rs773231689 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet et al., 2016 - - - France - - - - - 1 Crystel Bonnet
+/. 2 c.742C>T r.(?) p.(Gln248*) - Both (homozygous) ACMG pathogenic (recessive) g.72916189G>A - - - USH1G_000053 - PubMed: Bahena 2021 - - Germline ? - - - - DNA SEQ-NG-I - Exome sequencing USH Pat17 PubMed: Bahena 2021 - F yes Mexico - - - - - 2 Barbara Vona
?/. - c.746T>A r.(?) p.(Leu249Gln) - Unknown - VUS g.72916185A>T g.74920090A>T USH1G(NM_173477.4):c.746T>A (p.L249Q) - OTOP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.756C>T r.(?) p.(Asp252=) - Unknown - benign g.72916175G>A g.74920080G>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.756C>T r.(?) p.(Asp252=) - Unknown - likely benign g.72916175G>A g.74920080G>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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.780_781insGCAC r.(?) p.(Tyr261Alafs*96) Central (127-384) Maternal (confirmed) - pathogenic g.72916151_72916152insTGCG g.74920056_74920057insTGCG 780insGCAC - USH1G_000029 Heterozygous PubMed: Oonk et al., 2014 - - Germline - 0/350 controls - - - DNA SEQ - - deafness - PubMed: Oonk et al., 2014 relative F - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 2 c.800G>A r.(?) p.(Trp267*) Central (127-384) Unknown - pathogenic g.72916131C>T g.74920036C>T - - USH1G_000057 Heterozygous PubMed: Bonnet et al., 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet et al., 2016 proband F - France - - - - - 1 Crystel Bonnet
+/. - c.800G>A r.(?) p.(Trp267Ter) - Maternal (confirmed) ACMG pathogenic g.72916131C>T - - - USH1G_000057 - Mansard 2021, submitted - - Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
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