All 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.

11589 entries on 116 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

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     
+/. - c.1841-2 A>G r.spl p.(Gly614Aspfs*6) - - pathogenic (recessive) g.216462754T>C - - - USH2A_001781 - PubMed: Santana 2019 - - Germline - - - 0 - Global Variome, with Curator vacancy
+?/. 21i_49i c.? r.? p.? - - likely pathogenic (recessive) g.? - Del. exons 22–49 - NPHS2_000000 - PubMed: Fuster-Garcia 2018 - - Germline - - - 0 - Global Variome, with Curator vacancy
+?/. 27i_30i c.? r.? p.? - - likely pathogenic (recessive) g.? - Dup. exons 28–30 - NPHS2_000000 - PubMed: Fuster-Garcia 2018 - - Germline - - - 0 - Global Variome, with Curator vacancy
+?/. 22i_32i c.? r.? p? - - likely pathogenic (recessive) g.? - del ex23-32 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline yes - - 0 - LOVD
+?/. 30i_35i c.? r.? p? - - likely pathogenic (recessive) g.? - del ex31-35 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline - - - 0 - LOVD
+?/. 22i_32i c.? r.? p? - - likely pathogenic (recessive) g.? - del ex23-32 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline yes - - 0 - LOVD
+?/. 22i_32i c.? r.? p? - - likely pathogenic (recessive) g.? - del ex23-32 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline yes - - 0 - LOVD
+?/. - c.? r.? p.? - - likely pathogenic g.? - del 20 at CD62 - NPHS2_000000 - PubMed: Huang 2018 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - p.Val218Glu - NPHS2_000000 - PubMed: Carrigan 2016 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.(C3425Ffs*4) - - pathogenic g.? - 10272_10273dupA - NPHS2_000000 - PubMed: Bravo-Gil 2016 - - Germline - - - 0 - LOVD
+?/. - c.? r.? p.? - - likely pathogenic g.? - del ex45-49 - NPHS2_000000 - PubMed: Perez-Carro 2016 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex14 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex45-47 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex48 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - LOVD
+?/. - c.? r.? p.? - - likely pathogenic g.? - del ex38-41 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex15-21 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - LOVD
+?/. - c.? r.? p.? - - likely pathogenic g.? - del ex5-11 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex10-11 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - LOVD
+?/. - c.? r.? p.? - - likely pathogenic g.? - dup ex4 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - LOVD
+/. - c.? r.? p.? - - pathogenic (recessive) g.? - c.1340A> - NPHS2_000000 - PubMed: Xu 2014 - - Germline - - - 0 - LOVD
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux
+/. 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 - - - 0 - Johan den Dunnen
+/. - 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 - - - 0 - LOVD
?/. - 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
?/. - 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 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 0 - Anne-Françoise Roux
+/+ 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 0 - Anne-Françoise Roux
-/. - 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 c.83del r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31) - pathogenic g.216595596del g.216422254del 83delT - USH2A_000360 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 2 c.83del r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31) - pathogenic g.216595596del g.216422254del 83delT - USH2A_000360 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 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 - 0 - Anne-Françoise Roux
+/+ 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 - 0 - Anne-Françoise Roux
+/+ 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - - pathogenic g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 Heterozygous PubMed: Lenassi 2015 - - Germline - - - 0 - Eva Lenassi
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - LOVD
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Maria Bitner-Glindzicz
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Dreyer 2000 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Dreyer 2000 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Jaijo 2010 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Jose Maria Millan
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Bernal 2005 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Bernal 2005 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Baux 2014 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Krawitz 2014 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Peter Krawitz
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - Crystel Bonnet
+/+ 2 c.100C>T r.(?) p.(Arg34*) - - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - Crystel Bonnet
+?/. - c.100C>T r.(?) p.(Arg34*) - - likely pathogenic g.216595579G>A - - - USH2A_000165 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - Global Variome, with Curator vacancy
+/. - c.100C>T r.(?) p.(Arg34*) - - pathogenic (recessive) g.216595579G>A - 1:216595579G>A ENST00000307340.3:c.100C>T (Arg34Ter) - USH2A_000165 - PubMed: Carss 2017 - - Germline - - - 0 - LOVD
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Homozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Homozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - Anne-Françoise Roux
+?/. - c.100_101insT r.(?) p.(Arg34LeufsTer41) - - likely pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 - 0 - - Germline yes - - 0 - LOVD
+/. - c.126C>G r.(?) p.(Asn42Lys) - - pathogenic g.216595553G>C g.216422211G>C - - USH2A_001891 - PubMed: Comander 2017 - - Germline - - - 0 - LOVD
+?/? 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 0 - Jose Maria Millan
+/. 2 c.174T>A r.(?) p.(Cys58*) - ACMG pathogenic (recessive) g.216595505A>T - - - USH2A_002002 - Bahena et al., 2021 (submitted) - - Germline ? - - 0 - Barbara Vona
+?/? 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; 0 - Anne-Françoise Roux
+/. - c.187C>T r.(?) p.(Arg63Ter) - - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 2 c.187C>T r.(?) p.(Arg63*) - - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +AcuI 0 - Maria Bitner-Glindzicz
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »