Full data view for gene USH2A


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.

54 entries on 1 page. Showing entries 1 - 54.
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+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown - likely pathogenic g.216538426A>T g.216365084A>T USH2A(NM_206933.4):c.653T>A (p.V218E) - USH2A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown - likely pathogenic g.216538426A>T g.216365084A>T USH2A(NM_206933.4):c.653T>A (p.V218E) - USH2A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #1 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #1 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Leroy 2001, USMA missense analysis, missense variant in MSV3d - - Germline - 0/100 controls -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Leroy 2001 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #2 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Herrera 2008, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - RPar - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative F - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Maternal (confirmed) ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband F - Austria - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Maternal (confirmed) ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Relative F - Austria - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 U608 PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.653u>a p.Val218Glu - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; No effect on splicing (minigene) PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls -HpyCH4V - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Maternal (confirmed) ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Paternal (confirmed) ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #1 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; Presumably pathogenic PubMed: Bonnet 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/306 controls -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Paternal (confirmed) ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; likely pathogenic PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; likely pathogenic PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Unknown ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #2 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #2 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #2 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #2 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #2 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/? 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #1 ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown - likely pathogenic g.216538426A>T - - - USH2A_000067 - - - rs397518026 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.653T>A r.(?) p.(Val218Glu) - Unknown - pathogenic (recessive) g.216538426A>T - 1:216538426A>T ENST00000307340.3:c.653T>A (Val218Glu) - USH2A_000067 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240075 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - likely pathogenic g.216538426A>T g.216365084A>T - - USH2A_000067 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 591 PubMed: Stone 2017 family, 3 affected F - (United States) - - - - - 3 LOVD
+/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - pathogenic g.216538426A>T g.216365084A>T - - USH2A_000067 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ - - USH Pat34 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - pathogenic g.216538426A>T g.216365084A>T - - USH2A_000067 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel USH Pat52 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - pathogenic g.216538426A>T g.216365084A>T - - USH2A_000067 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ - - USH Pat33 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. 4 c.653T>A r.(?) p.(Val218Glu) - Unknown - pathogenic g.216538426A>T - Val218Glu - USH2A_000067 - PubMed: Jacobson 2008; PubMed: Herrera 2008 - - Unknown - - - - - DNA SEQ-NG - - retinal disease - PubMed: Jacobson 2008; PubMed: Herrera 2008 Patient already described in Herrera 2008 F16-P1 F - - - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Both (homozygous) ACMG likely pathogenic g.216538426A>T - - - USH2A_000067 - PubMed: Mansard et al, 2021 - rs397518026 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown ACMG likely pathogenic g.216538426A>T - - - USH2A_000067 - PubMed: Mansard et al, 2021 - rs397518026 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown ACMG likely pathogenic g.216538426A>T - - - USH2A_000067 - PubMed: Mansard et al, 2021 - rs397518026 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown ACMG likely pathogenic g.216538426A>T - - - USH2A_000067 - PubMed: Mansard et al, 2021 - rs397518026 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - likely pathogenic g.216538426A>T g.216365084A>T USH2A, variant 1: c.653T>A/p.V218E, variant 2: c.15053-2A>T/p.? - USH2A_000067 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 600 PubMed: Weisschuh 2020 Filing key number: 216, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - likely pathogenic g.216538426A>T g.216365084A>T USH2A, variant 1: c.653T>A/p.V218E, variant 2: c.14225_14232dup/ p.V4745Rfs*4 - USH2A_000067 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 603 PubMed: Weisschuh 2020 Filing key number: 217, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - likely pathogenic g.216538426A>T g.216365084A>T USH2A, variant 1: c.653T>A/p.V218E, variant 2: c.14225_14232dup/ p.V4745Rfs*4 - USH2A_000067 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 604 PubMed: Weisschuh 2020 Filing key number: 217, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - likely pathogenic g.216538426A>T g.216365084A>T USH2A, variant 1: c.653T>A/p.V218E, variant 2: c.11105G>A/p.W3702* - USH2A_000067 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 675 PubMed: Weisschuh 2020 Filing key number: 243, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - likely pathogenic g.216538426A>T g.216365084A>T USH2A, variant 1: c.653T>A/p.V218E, variant 2: c.2610C>A/p.C870* - USH2A_000067 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 685 PubMed: Weisschuh 2020 Filing key number: 248, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - likely pathogenic g.216538426A>T g.216365084A>T USH2A, variant 1: c.653T>A/p.V218E, variant 2: c.2276G>T/p.C759F - USH2A_000067 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 1130 PubMed: Weisschuh 2020 Filing key number: 777, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - likely pathogenic g.216538426A>T g.216365084A>T USH2A, variant 1: c.2168-1G>C/p.?, variant 2: c.653T>A/p.V218E - USH2A_000067 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 794 PubMed: Weisschuh 2020 Filing key number: 312, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #1 - likely pathogenic g.216538426A>T g.216365084A>T USH2A, variant 1: c.2276G>T/p.C759F, variant 2: c.653T>A/p.V218E - USH2A_000067 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1170 PubMed: Weisschuh 2020 Filing key number: 845, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.653T>A r.(?) p.(Val218Glu) - Parent #2 - likely pathogenic g.216538426A>T g.216365084A>T USH2A c.653T>A, p.(Val218Glu) - USH2A_000067 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 6 PubMed: Falsini 2021 - F - Italy - - - - - 1 LOVD
+/. 4 c.653T>A r.(653u>a) p.(Val218Glu) - Parent #1 ACMG pathogenic g.216538426A>T g.216365084A>T - - USH2A_000067 - PubMed: de Bruijn 2023, PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease 071367;DFNB2 PubMed: de Bruijn 2023, PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
+/. - c.653T>A r.(?) p.(Val218Glu) - Unknown ACMG pathogenic g.216538426A>T g.216365084A>T - - USH2A_000067 ACMG GN005 criteria: PM2_P PM3_VS PP3_P PubMed: Falsini, B. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Glockle, N. et al., 2014; PubMed: Mansard, L. et al., 2021; PubMed: Weisschuh, N. et al., 2020; PubMed: Neuhaus, C. et al., 2017 - rs397518026 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown ACMG likely pathogenic (recessive) g.216538426A>T g.216365084A>T - - USH2A_000067 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHII-357 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown ACMG likely pathogenic (recessive) g.216538426A>T g.216365084A>T - - USH2A_000067 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHII-207 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown ACMG likely pathogenic (recessive) g.216538426A>T g.216365084A>T - - USH2A_000067 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 48564 - Germline - - - - - DNA SEQ-NG - WGS ? USHII-338 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.653T>A r.(?) p.(Val218Glu) - Unknown ACMG likely pathogenic (recessive) g.216538426A>T g.216365084A>T - - USH2A_000067 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? USHII-358 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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