Unique variants in the USH2A gene


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

1816 entries on 19 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     
+/. 1 - c.1841-2 A>G r.spl p.(Gly614Aspfs*6) - - pathogenic (recessive) g.216462754T>C - - - USH2A_001781 - PubMed: Santana 2019 - - Germline - - - - - Global Variome, with Curator vacancy
+/., +?/. 23 21i_49i, 22i_32i, 27i_30i, 30i_35i c.? r.? p.(C3425Ffs*4), p.?, p? - - likely pathogenic, likely pathogenic (recessive), pathogenic g.? - 10272_10273dupA, del 20 at CD62, del ex10-11, del ex14, del ex15-21, del ex22-24, del ex23-32, dup ex4, 9 more items - NPHS2_000000 - PubMed: Bravo-Gil 2016, PubMed: Carrigan 2016, PubMed: Eandi 2017, PubMed: Fuster-Garcia 2018, 3 more items - - Germline yes - - - - Global Variome, with Curator vacancy
-/- 8 _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - - - Anne-Françoise Roux
-/- 8 _1 c.-1707A>G r.(=) p.(=) - - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - - - Anne-Françoise Roux
-/- 8 _1 c.-1689C>A r.(=) p.(=) - - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - - - Anne-Françoise Roux
-/- 8 _1 c.-1408T>C r.(=) p.(=) - - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - - - Anne-Françoise Roux
+/. 1 4i_9i c.(784+1_749-1)_(1644++1_1645-1)del r.? p.? - - pathogenic (recessive) g.? - del ex5_9 - USH2A_000000 {PMID:Garcia-Garcia 2014:25352746}, {PMID:Fuster-Garcia 2018:30459346} - - - Germline - - - - - Johan den Dunnen
+/. 1 - c.? r.? p.? - ACMG pathogenic (recessive) g.? - c.11381+1delG - USH2A_000000 variant unknown, no splice site at c.11381+1 PubMed: Sun 2018 - - Germline - - - - - -
?/. 1 - c.1A>G r.(?) p.(Met1?) - - VUS g.216595678T>C g.216422336T>C - - USH2A_001683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.60G>C r.(?) p.(Leu20Phe) - - VUS g.216595619C>G g.216422277C>G USH2A(NM_206933.2):c.60G>C (p.L20F) - USH2A_001682 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 2 2 c.72T>G r.(?) p.(Tyr24*) Signal peptide (1-31) - pathogenic g.216595607A>C g.216422265A>C - - USH2A_000734 Homozygous PubMed: Baux 2014 - - Germline - - +BfaI - - Anne-Françoise Roux
-/. 1 - c.78T>C r.(?) p.(Ala26=) - - benign g.216595601A>G g.216422259A>G USH2A(NM_206933.2):c.78T>C (p.A26=) - USH2A_001681 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 2 c.83del r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31) - pathogenic g.216595596del g.216422254del 83delT - USH2A_000360 Homozygous PubMed: Baux 2014 - - Germline - - - - - Anne-Françoise Roux
+/+ 2 2 c.98_99insT r.(?) p.(Arg34Thrfs*41) - - pathogenic g.216595580_216595581insA g.216422238_216422239insA - - USH2A_000004 Heterozygous PubMed: Dai 2008 - - Germline - 0/200 controls - - - Anne-Françoise Roux
+/+, +/. 6 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - ACMG pathogenic, pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 Heterozygous PubMed: Lenassi 2015, PubMed: Sun 2018 - - Germline - - - - - Eva Lenassi
+/+, +/., +?/. 14 2 c.100C>T r.(?) p.(Arg34*) - - likely pathogenic, pathogenic, pathogenic (recessive) g.216595579G>A g.216422237G>A 1:216595579G>A ENST00000307340.3:c.100C>T (Arg34Ter) - USH2A_000165 Heterozygous, Heterozygous; mutation, Heterozygous; Pathogenic PubMed: Baux 2014, PubMed: Bernal 2005, PubMed: Bonnet 2016, PubMed: Carss 2017, PubMed: Dreyer 2000, 5 more items - - Germline - 0/878 controls, 1/899 cases +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; - - Global Variome, with Curator vacancy, Peter Krawitz, Anne-Françoise Roux, Jose Maria Millan, Maria Bitner-Glindzicz, Crystel Bonnet
+/+ 5 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation, Homozygous; mutation PubMed: Jiang 2015 - - Germline - - - - - Anne-Françoise Roux
+/. 1 - c.126C>G r.(?) p.(Asn42Lys) - - pathogenic g.216595553G>C g.216422211G>C - - USH2A_001891 - PubMed: Comander 2017 - - Germline - - - - - -
+?/? 1 2 c.130G>A r.(?) p.(Gly44Arg) - ACMG VUS g.216595549C>T g.216422207C>T - - USH2A_000676 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls none - - Jose Maria Millan
+/. 1 2 c.174T>A r.(?) p.(Cys58*) - ACMG pathogenic (recessive) g.216595505A>T - - - USH2A_002002 - Bahena et al., 2021 (submitted) - - Germline ? - - - - Barbara Vona
+?/? 1 2 c.176G>A r.(?) p.(Gly59Glu) - ACMG VUS g.216595503C>T g.216422161C>T - - USH2A_000770 Heterozygous; likely pathogenic PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HinfI;-MlyI;-PleI;-XcmI; - - Anne-Françoise Roux
+/+, +/., +?/. 14 2 c.187C>T r.(?) p.(Arg63*), p.(Arg63Ter) - - likely pathogenic, pathogenic, pathogenic (recessive) g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous, Heterozygous; Mutation, Heterozygous; Pathogenic, Heterozygous; pathogenic mutation, 2 more items PubMed: Bernal 2003, PubMed: Dreyer 2000, PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016, 5 more items - - CLASSIFICATION record, Germline - - +AcuI - - VKGL-NL_Nijmegen, Anne-Françoise Roux, Maria Bitner-Glindzicz
-?/? 1 2 c.188G>A r.(?) p.(Arg63Gln) - ACMG likely benign g.216595491C>T g.216422149C>T - - USH2A_000791 Heterozygous; Mutation PubMed: Yang 2013, USMA missense analysis, missense variant in MSV3d - - Germline - 0/400 controls - - - Anne-Françoise Roux
?/. 1 - c.199T>C r.(?) p.(Cys67Arg) - - VUS g.216595480A>G g.216422138A>G - - USH2A_001554 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.202C>T r.(?) p.(His68Tyr) - ACMG VUS g.216595477G>A - - - USH2A_001780 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - Global Variome, with Curator vacancy
+/., +?/? 3 2 c.206G>T r.(?) p.(Ser69Ile) - ACMG pathogenic, pathogenic (recessive), VUS g.216595473C>A g.216422131C>A - - USH2A_000972 Heterozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d, PubMed: Sun 2018, 1 more item - rs377254440 Germline - 1/1204 cases with retinitis pigmentosa - - - Anne-Françoise Roux, Yoshito Koyanagi
+?/? 2 2 c.232T>G r.(?) p.(Phe78Val) - ACMG VUS g.216595447A>C g.216422105A>C - - USH2A_000979 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs775094277 Germline - - - - - Crystel Bonnet
+/+, +/. 18 2 c.236_239dup r.(?) p.(Gln81Tyrfs*28), p.(Thr80Serfs*29) - ACMG pathogenic, pathogenic (recessive) g.216595440_216595443dup g.216422098_216422101dup 239–242insGTAC (Thr80fs) - USH2A_000135 Heterozygous, Homozygous Bahena et al., 2021 (submitted), Sharon, submitted, PubMed: Aller 2006, PubMed: Auslender 2008, 4 more items - - Germline yes 17/2420 IRD families, 2/2420 IRD families, 5/582 controls - - - Global Variome, with Curator vacancy, Dror Sharon, Zippi Brownstein, Barbara Vona, Anne-Françoise Roux, Jose Maria Millan
+/+ 6 2 c.237_238insCGTA r.(?) p.(Thr80Argfs*29) - - pathogenic g.216595441_216595442insTACG g.216422099_216422100insTACG - - USH2A_000139 Homozygous PubMed: Adato 2000, PubMed: Leroy 2001 - - Germline - 0/120 controls - - - Anne-Françoise Roux
+/+ 5 2 c.239_240insGATC r.(?) p.(Gln81Ilefs*28) - - pathogenic g.216595440_216595441insATCG g.216422098_216422099insATCG - - USH2A_000138 Heterozygous PubMed: Kaiserman 2007 - - Germline - - - - - Anne-Françoise Roux
?/. 1 - c.244C>T r.(?) p.(Arg82Trp) - - VUS g.216595435G>A g.216422093G>A - - USH2A_001680 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.264C>G r.(?) p.(Cys88Trp) - - likely pathogenic g.216595415G>C g.216422073G>C - - USH2A_001935 - PubMed: Stone 2017 - - Germline - - - - - -
+/?, +?/., +?/? 3 2, 7 c.269A>G r.(?) p.(Tyr90Cys) - ACMG likely pathogenic, likely pathogenic (recessive), VUS g.216595410T>C g.216422068T>C - - USH2A_000907 Heterozygous; mutation, Heterozygous; UV3 PubMed: Aparisi 2014, USMA missense analysis, missense variant in MSV3d, PubMed: Eandi 2017, 1 more item - rs755435330 Germline yes - - - - Anne-Françoise Roux, Crystel Bonnet
-?/. 1 - c.300T>C r.(?) p.(Leu100=) - - likely benign g.216595379A>G g.216422037A>G USH2A(NM_206933.2):c.300T>C (p.L100=) - USH2A_001679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.353C>G r.(?) p.(Pro118Arg) - - VUS g.216595326G>C g.216421984G>C - - USH2A_001428 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/-, -/. 324 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T USH2A(NM_206933.2):c.373G>A (p.A125T) - USH2A_000044 Heterozygous, Heterozygous; Neutral, Heterozygous; non causative, Homozygous, Homozygous; Neutral, 2 more items PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d, 11 more items - rs10779261 CLASSIFICATION record, Germline - 312/1204 cases with retinitis pigmentosa, 850/1204 cases with retinitis pigmentosa -HpyCH4V - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Anne-Françoise Roux, Jose Maria Millan, Yoshito Koyanagi
-/- 1 2 c.375A>G r.(?) p.(=) - - benign g.216595304T>C g.216421962T>C - - USH2A_000335 Heterozygous PubMed: Baux 2014 - - Germline - - - - - Anne-Françoise Roux
+/. 2 2 c.377del r.(?) p.(Ser126Ilefs*19) - ACMG pathogenic, pathogenic (recessive) g.216595302del g.216421960del 377delG, c.377delG - USH2A_001450 - PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon
+/+ 1 2 c.377_378del r.(?) p.(Ser126Ilefs*31) - - pathogenic g.216595301_216595302del g.216421959_216421960del 377_378delGT - USH2A_000193 Heterozygous PubMed: Najera 2002 - - Germline - - - - - Jose Maria Millan
-?/. 1 - c.387T>C r.(?) p.(Phe129=) - - likely benign g.216595292A>G g.216421950A>G USH2A(NM_206933.2):c.387T>C (p.F129=) - USH2A_001726 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.432G>A r.(?) p.(Leu144=) - - benign, likely benign g.216595247C>T g.216421905C>T USH2A(NM_206933.2):c.432G>A (p.L144=) - USH2A_001290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 1 2 c.439_445del r.(?) p.(Ser147Profs*2) - - pathogenic g.216595235_216595241del g.216421893_216421899del - - USH2A_000913 Heterozygous PubMed: Sodi 2014 - - Germline - - - - - Anne-Françoise Roux
-?/. 1 - c.441A>T r.(?) p.(Ser147=) - - likely benign g.216595238T>A g.216421896T>A USH2A(NM_206933.2):c.441A>T (p.S147=) - USH2A_001289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 - c.478G>A r.(?) p.(Gly160Ser) - - benign, VUS g.216595201C>T g.216421859C>T USH2A(NM_206933.2):c.478G>A (p.G160S) - USH2A_001288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.485+3A>T r.(del-exon) p.? - - likely pathogenic g.216595191T>A g.216421849T>A - - USH2A_001934 effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - -
-?/. 1 - c.486-15C>T r.(=) p.(=) - - likely benign g.216592036G>A g.216418694G>A - - USH2A_001287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +/?, +?/. 11 02i, 2i c.486-14G>A r.(485_486ins486-12_486-1), r.(=), r.485_486ins486-12_486-1, r.spl, r.spl? p.(=), p.?, p.[(Met162Ile,Met162_Cys163insCysPheLeuArg)], p.[Met162Ile,Met162_Cys163insCysPheLeuArg] - ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.216592035C>T g.216418693C>T - - USH2A_000313 Heterozygous, Heterozygous; ins last 12 nt IVS2, Heterozygous; Predicted pathogenic, 2 more items PubMed: Baux 2014, PubMed: Dad 2016, PubMed: Haer-Wigman 2017, PubMed: Le Guédard-Méreuze 2010, 3 more items - rs374536346 CLASSIFICATION record, Germline - 0/100 controls, 0/200 controls +BsrI;-MspI;-HpaII;-BsaWI; - - VKGL-NL_Nijmegen, Anne-Françoise Roux
-/- 1 02i c.486-13G>A r.(=) p.(=) - - benign g.216592034C>T g.216418692C>T - - USH2A_000707 Heterozygous; unknown PubMed: Neveling 2012 - rs116367260 Germline - - +Hpy188I;-MspI;-HpaII;-BsaWI; - - Anne-Françoise Roux
+/+ 1 02i c.486-2A>C r.spl p.? - - pathogenic g.216592023T>G g.216418681T>G - - USH2A_001056 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - Crystel Bonnet
?/. 1 2i c.486-1G>A r.spl p.? - - VUS g.216592022C>T g.216418680C>T - - USH2A_001112 - - - - Unknown - - - - - Feng Wang
+/. 2 - c.486-1G>C r.spl p.? - - pathogenic g.216592022C>G g.216418680C>G - - USH2A_002037 - PubMed: Neuhaus 2017 - - Germline - - - - - -
+/., +?/., -?/? 4 12, 3 c.488G>A r.(?) p.(Cys163Tyr) - ACMG likely benign, likely pathogenic, pathogenic (recessive) g.216592019C>T g.216418677C>T - - USH2A_000023 Heterozygous, possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, Tranebjaerg 2011, PubMed: Dad 2016, PubMed: Huang 2018, 1 more item - - Germline - - - - - Anne-Françoise Roux
+/. 2 - c.490G>T r.(?) p.(Val164Phe) - - pathogenic g.216592017C>A g.216418675C>A - - USH2A_001553 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Maeda 2018 - rs527236123 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/+ 1 3 c.490_491del r.(?) p.(Val164Tyrfs*17) - - pathogenic g.216592020_216592021del g.216418678_216418679del - - USH2A_000775 Heterozygous; likely pathogenic PubMed: Glöckle 2014 - - Germline - - - - - Anne-Françoise Roux
+/., +?/. 2 - c.497A>G r.(?) p.(Glu166Gly) - ACMG likely pathogenic, pathogenic (recessive) g.216592010T>C g.216418668T>C - - USH2A_001712 - PubMed: Karali 2019, Journal: Karali 2019, PubMed: Karali 2019, Journal: Karali 2019 - - Germline - - - - - Sandro Banfi
-/-, -/. 316 3 c.504A>G r.(?) p.(=), p.(Thr168=) - - benign g.216592003T>C g.216418661T>C USH2A(NM_206933.2):c.504A>G (p.T168=) - USH2A_000043 Heterozygous, Heterozygous; Neutral, Homozygous, Homozygous; Neutral, Homozygous; non causative, 1 more item PubMed: Baux 2007, PubMed: Baux 2014, PubMed: Besnard, Garcia-Garcia 2014, PubMed: Garcia-Garcia 2011, 5 more items - rs4253963 CLASSIFICATION record, Germline - - none - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Anne-Françoise Roux, Jose Maria Millan
+/+ 2 3 c.532dup r.(=) p.(Thr178Asnfs*4) Laminin EGF-like 1 (518-574) - pathogenic g.216591975dup g.216418633dup 532dupA - USH2A_000871 Homozygous; mutation PubMed: Reddy 2014 - - Germline - - - - - Rima Slim
+/., +?/., +?/? 5 3 c.538T>C r.(?) p.(Ser180Pro) - ACMG likely pathogenic, pathogenic (recessive), VUS g.216591969A>G g.216418627A>G - - USH2A_000143 Heterozygous, Heterozygous; Mutation, VKGL data sharing initiative Nederland PubMed: Huang 2013, USMA missense analysis, missense variant in MSV3d, PubMed: Sun 2018, 1 more item - - CLASSIFICATION record, Germline - 0/270 controls - - - VKGL-NL_Nijmegen, Anne-Françoise Roux
+/+ 1 3 c.545_546del r.(?) p.(Lys182Argfs*33) - - pathogenic g.216591962_216591963del g.216418620_216418621del 545_546delAA - USH2A_000208 Heterozygous PubMed: Seyedahmadi 2004 - - Germline - - - - - Anne-Françoise Roux
+/. 2 3 c.545_548delAAGA r.(?) p.(Lys182Argfs*9) - - pathogenic g.216591962_216591965del g.216418620_216418623del c.545_548delAAGA - USH2A_001962 - PubMed: Bernardis 2016 - - Germline - - - - - -
+?/. 1 - c.547G>A r.(?) p.(Glu183Lys) - - likely pathogenic g.216591960C>T g.216418618C>T - - USH2A_001933 - PubMed: Stone 2017 - - Germline - - - - - -
-?/? 1 3 c.550A>C r.(?) p.(Thr184Pro) - ACMG likely benign g.216591957T>G g.216418615T>G - - USH2A_000591 Heterozygous; UV1 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/96 controls +Bsp1286I;+BanII;+CviKI_1;-BsmAI;-BsaI; - - Maria Bitner-Glindzicz
-?/. 1 - c.553A>G r.(?) p.(Met185Val) - - likely benign g.216591954T>C g.216418612T>C USH2A(NM_206933.2):c.553A>G (p.M185V) - USH2A_001678 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 3 c.562T>A r.(?) p.(Tyr188Asn) - ACMG VUS g.216591945A>T g.216418603A>T - - USH2A_000980 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - Crystel Bonnet
+?/. 1 - c.563A>G r.(?) p.(Tyr188Cys) - - likely pathogenic (recessive) g.216591944T>C g.216418602T>C - - USH2A_001890 - PubMed: Eandi 2017 - - Germline - - - - - -
?/. 1 - c.565C>T r.(?) p.(Arg189Cys) - - VUS g.216591942G>A g.216418600G>A USH2A(NM_206933.2):c.565C>T (p.R189C) - USH2A_001285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/? 1 3 c.573A>G r.(?) p.(=) - ACMG likely benign g.216591934T>C g.216418592T>C - - USH2A_000307 Heterozygous PubMed: Baux 2014 - rs73102592 Germline - - - - - Anne-Françoise Roux
+/+ 1 3 c.612dup r.(?) p.(Arg205Glufs*11) - - pathogenic g.216591898dup g.216418556dup - - USH2A_000008 Heterozygous PubMed: Ebermann 2009 - - Germline - - - - - Anne-Françoise Roux
+/+ 1 3 c.633G>A r.(?) p.(Trp211*) - - pathogenic g.216591874C>T g.216418532C>T - - USH2A_000885 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - Crystel Bonnet
+/+ 1 03i c.651+1G>A r.spl p.? - - pathogenic g.216591855C>T g.216418513C>T - - USH2A_000645 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - -BspMI;-HphI;-BfuAI; - - Maria Bitner-Glindzicz
+/+ 1 4-13 c.652-23900_2809+1417dupins(17) r.(?) p.(?) - - pathogenic g.? - g.39412_183229dupins17 - USH2A_000523 Heterozygous PubMed: Baux 2014 - - Germline - - - - - Anne-Françoise Roux
-/- 53 03i c.652-80T>C r.(=) p.(=) - - benign g.216538507A>G g.216365165A>G - - USH2A_000121 Heterozygous, Heterozygous; Neutral, Homozygous, Homozygous; Neutral PubMed: Baux 2007, PubMed: Baux 2014, PubMed: Le Guédard-Méreuze 2010, PubMed: Le Quesne Stabej 2012, 2 more items - rs45594833 Germline - - +MseI - - Anne-Françoise Roux, Maria Bitner-Glindzicz
+/+, +?/. 3 03i, 3i c.652-2A>G r.spl p.? - - likely pathogenic, pathogenic g.216538429T>C g.216365087T>C - - USH2A_000860 Heterozygous; mutation PubMed: de Castro-Miro 2014 - - Germline - - - - - Marta de Castro-Miró, Anne-Françoise Roux
+/+ 1 4 c.652-?_784+?del r.? p.? - - pathogenic g.216538295_216538427del - - - USH2A_001057 1 more item PubMed: Bonnet 2016 - - Germline - - - - - Crystel Bonnet
+/+ 1 4-13 c.652-?_2809+?dup r.? p.? - - pathogenic g.216419927_216538427dup - - - USH2A_000801 1 more item PubMed: Le Quesne Stabej 2012 - - Germline - - - - - Maria Bitner-Glindzicz
+/., +?/., +?/? 34 4 c.653T>A r.(653u>a), r.(?), r.653u>a p.(Val218Glu), p.Val218Glu - ACMG likely pathogenic, pathogenic, pathogenic (recessive), VUS g.216538426A>T g.216365084A>T 1:216538426A>T ENST00000307340.3:c.653T>A (Val218Glu), USH2A(NM_206933.2):c.653T>A (p.V218E) - USH2A_000067 Heterozygous, Heterozygous; likely pathogenic, Heterozygous; mutation, 3 more items PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d, PubMed: Carss 2017, 10 more items - rs397518026 CLASSIFICATION record, Germline, Unknown yes 0/100 controls, 0/200 controls, 0/306 controls -HpyCH4V - - VKGL-NL_Nijmegen, VKGL-NL_AMC, Anne-Françoise Roux, Crystel Bonnet, MobiDetails
+?/. 1 - c.662C>A r.(?) p.(Thr221Lys) - - likely pathogenic g.216538417G>T g.216365075G>T - - USH2A_001882 - PubMed: Maeda 2018 - - Germline - - - - - -
+/+ 2 4-1 c.672_1840+1160del r.spl p.? Laminin N-terminal (271-517);Laminin EGF-like 1 (518-574);Laminin EGF-like 2 (575-640) - pathogenic g.216464359_216538409del g.216291017_216365067del hg19:chr1:g.216464357_216538407del - USH2A_000903 Heterozygous PubMed: Dad 2015, PubMed: Dad 2016 - - Germline - - - - - Shzeena Dad
+?/? 2 4 c.685G>C r.(?) p.(Gly229Arg) - ACMG VUS g.216538394C>G g.216365052C>G - - USH2A_000862 Heterozygous; very likely pathogenic PubMed: Zhao 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/400 controls - - - Anne-Françoise Roux
+?/., -/-, -/., -/?, -?/., ?/. 16 4 c.688G>A r.(?) p.(Val230Met) - ACMG benign, likely benign, likely pathogenic, VUS g.216538391C>T g.216365049C>T USH2A(NM_206933.2):c.688G>A (p.V230M) - USH2A_000014 111 heterozygous; Clinindb (India), 4 homozygous; Clinindb (India), Heterozygous, Homozygous, 3 more items PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d, PubMed: Eandi 2017, 9 more items - rs45500891 CLASSIFICATION record, Germline yes 0/100 controls, 11/1204 cases with retinitis pigmentosa, 111/2795 individuals, 2/96 controls, 3 more items +FatI;+NlaIII;+CviAII; - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, Anne-Françoise Roux, Jose Maria Millan, Maria Bitner-Glindzicz, Yoshito Koyanagi, Mohammed Faruq
?/. 1 - c.704C>T r.(?) p.(Thr235Ile) - - VUS g.216538375G>A g.216365033G>A USH2A(NM_206933.2):c.704C>T (p.T235I) - USH2A_001282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 4 c.710del r.(?) p.(Phe237Serfs*6) - - pathogenic g.216538371del g.216365029del 710delT - USH2A_000973 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - - - Anne-Françoise Roux
?/. 1 - c.743A>T r.(?) p.(Asp248Val) - - VUS g.216538336T>A g.216364994T>A USH2A(NM_206933.2):c.743A>T (p.D248V) - USH2A_001677 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 3 4 c.754G>T r.(?) p.(Gly252Cys) - ACMG likely pathogenic, pathogenic g.216538325C>A g.216364983C>A - - USH2A_001449 - Sharon, submitted, PubMed: Bravo-Gil 2016, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon
+?/? 1 4 c.769G>A r.(?) p.(Gly257Arg) - ACMG VUS g.216538310C>T g.216364968C>T - - USH2A_000636 Heterozygous; UV2 PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/96 controls none - - Maria Bitner-Glindzicz
+?/. 2 - c.773A>C r.(?) p.(Gln258Pro) - - likely pathogenic (recessive) g.216538306T>G g.216364964T>G - - USH2A_001782 - PubMed: Jinda 2014, PubMed: Jinda 2017 - - Germline - - - - - Johan den Dunnen
+/+, +/. 4 4 c.775_776del r.(?) p.(Ser259Phefs*63) - - pathogenic g.216538305_216538306del g.216364963_216364964del 775_776delAG - USH2A_000209 Heterozygous, Heterozygous; mutation PubMed: Bonnet 2016, PubMed: Neuhaus 2017, PubMed: Seyedahmadi 2004 - - Germline yes - - - - Anne-Françoise Roux, Crystel Bonnet
+/+ 2 4 c.779T>G r.(?) p.(Leu260*) - - pathogenic g.216538300A>C g.216364958A>C - - USH2A_000167 Heterozygous, Heterozygous; Pathogenic PubMed: Malm 2010, PubMed: Weston 2000 - rs121912598 Germline - - -DraI;-MseI; - - Anne-Françoise Roux
+/+, +?/. 2 4 c.781_784+1375del r.spl, r.spl? p.? - - likely pathogenic, pathogenic g.216536924_216538302del g.216363582_216364960del 781_c784+1375del1379ttaAATG… - USH2A_000799 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, PubMed: Stone 2017 - - Germline - - - - - Maria Bitner-Glindzicz
-/- 2 04i c.784+18G>A r.(=) p.(=) - - benign g.216538277C>T g.216364935C>T - - USH2A_000106 Heterozygous PubMed: Baux 2007, PubMed: Baux 2014 - - Germline - - - - - Anne-Françoise Roux
+/. 1 4i c.784+14389G>T r.784_785ins[784+14397_784+14493] p.(Gly262Aspfs*26) - - pathogenic (recessive) g.216523906C>A g.216350564C>A - - USH2A_002001 - Fadaie 2021, submitted - - Germline yes - - - - Zeinab Fadaie
+/+ 5 5-1 c.785-6636_1840+208del r.? p.(Leu263_Gly614del), p.? Laminin N-terminal (271-517), Laminin EGF-like 1 (518-574), Laminin EGF-like 2 (575-640), 1 more item - pathogenic g.216465309_216507632del g.216291967_216334290del - - USH2A_000739 Heterozygous, Heterozygous; mutation, Homozygous; mutation PubMed: Baux 2014, PubMed: Bonnet 2016 - - Germline - - - - - Anne-Françoise Roux, Crystel Bonnet
-/., -/? 3 04i c.785-16_785-15del r.(=), r.= p.(=), p.= - ACMG benign, likely benign g.216501011_216501012del g.216327669_216327670del 785-16_785-15delAT, USH2A(NM_206933.2):c.785-16_785-15delAT - USH2A_000539 Heterozygous; RT-PCR on hair roots cells showed normal sequence; Presumed non-pathogenic, 2 more items PubMed: Le Quesne Stabej 2012, PubMed: Nakanishi 2011 - - CLASSIFICATION record, Germline - 0/878 controls, 1/270 +HpyCH4IV;+PmlI;+BsaAI;-NlaIII;-FatI;-PciI; - - VKGL-NL_AMC, Anne-Françoise Roux, Maria Bitner-Glindzicz
-/. 1 - c.785-8A>G r.(=) p.(=) - - benign g.216501004T>C g.216327662T>C USH2A(NM_206933.2):c.785-8A>G - USH2A_001280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 5 c.785-?_848+?del r.(?) p.(?) - - pathogenic g.216500933_216500996del - - - USH2A_001058 1 more item PubMed: Bonnet 2016 - - Germline - - - - - Crystel Bonnet
+/. 1 - c.(784+1_785-1)_(5572+1_5573-1)dup r.? p.? - - pathogenic g.(216246643_216251430)_(216500997_216538294)del g.(216073301_216078088)_(216327655_216364952)del - - USH2A_001936 - PubMed: Haer-Wigman 2017 - - Germline - - - - - -
+/. 1 - c.792_795delGCAG r.(?) p.(Glu264Aspfs*71) - - pathogenic g.216500986_216500989del - - - USH2A_001790 - - - - Unknown - - - - - Gunnar Schmidt
+/., +?/., +?/? 20 5 c.802G>A r.(802g>a), r.(?), r.802g>a p.(Gly268Arg), p.Gly268Arg - ACMG likely pathogenic, pathogenic, pathogenic (recessive), VUS g.216500979C>T g.216327637C>T - - USH2A_000267, USH2A_001448 3 heterozygous, no homozygous; Clinindb (India), Heterozygous, Heterozygous; mutation, 2 more items Sharon, submitted, PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d, 10 more items - rs111033280 Germline, Unknown yes 0/200 controls, 0/96 controls, 1/1204 cases with retinitis pigmentosa, 3/2420 IRD families, 1 more item -MmeI - - Global Variome, with Curator vacancy, Dror Sharon, Anne-Françoise Roux, Maria Bitner-Glindzicz, Crystel Bonnet, Yoshito Koyanagi, Mohammed Faruq, MobiDetails
+/. 1 - c.820C>G r.(?) p.(Arg274Gly) - - pathogenic (recessive) g.216500961G>C - 1:216500961G>C ENST00000307340.3:c.820C>G (Arg274Gly) - USH2A_001832 - PubMed: Carss 2017 - - Germline - - - - - -
+/+, +/. 5 5 c.820C>T r.(?) p.(Arg274*) Laminin N-terminal (271-517) - pathogenic g.216500961G>A g.216327619G>A - - USH2A_000289 4 heterozygous, no homozygous; Clinindb (India), Heterozygous, Heterozygous; Pathogenic PubMed: Baux 2014, PubMed: Garcia-Garcia 2011, PubMed: Jaijo 2010, 1 more item - rs397518036 Germline - 4/2795 individuals -BcgI;-TaqI; - - Anne-Françoise Roux, Jose Maria Millan, Mohammed Faruq
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