Full data view for gene USH1C


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_153676.3 transcript reference sequence.

593 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Exon_old     

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.? r.(?) p.(Gly407Glufs*58) - - Unknown ACMG pathogenic g.17539012del - NM_005709.3:c.1220del - USH1C_000196 - PubMed: Sharon 2019 - - Germline - 13/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 13 IRD families - - Israel - - 0 - - 13 Global Variome, with Curator vacancy
?/. - c.? r.? p.? - - Unknown - VUS g.? - 566G>A (Arg189Gln) - DRD4_000002 - PubMed: Costa 2017 - - Germline - - - 0 - DNA SEQ-NG - 132-gene panel retinal disease Pat8 PubMed: Costa 2017 - M - Brazil - - 0 - - 1 LOVD
-?/. - c.-3158G>A r.(?) p.(=) - - Unknown - likely benign g.17569012C>T - OTOG(NM_001277269.1):c.93C>T (p.L31=) - USH1C_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_27_ c.(104+1_105-1)_*437{0} r.? p.? - - Both (homozygous) - pathogenic g.(17432201_17434212)_(17553090_17554801)del - del ex3-27 - USH1C_000212 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel USH Pat96 PubMed: Neuhaus 2017 - - - Saudi Arabia - - 0 - - 1 LOVD
+/. 2i_27_ c.(104+1_105-1)_*437{0} r.? p.? - - Both (homozygous) - pathogenic g.(?_g.17436861)_(17546526_?)del 17439772_17546526del del ex3-27 - USH1C_000212 123kb deletion incl. ABCC8 and USH1C PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA arrayCGH - - USH Pat97 PubMed: Neuhaus 2017 - - - Saudi Arabia - - 0 - - 1 LOVD
+/. - c.7C>T r.(?) p.(Arg3Ter) - - Both (homozygous) - pathogenic (recessive) g.17565848G>A g.17544301G>A - - USH1C_000208 - PubMed: Ben-Rebeh 2016 - - Germline yes - - 0 - DNA SEQ - - retinal disease USHTF3 PubMed: Ben-Rebeh 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents - yes Tunisia - - 0 - - 2 LOVD
?/. - c.28C>T r.(?) p.(Arg10Trp) - - Unknown - VUS g.17565827G>A - - - USH1C_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.36G>A r.(?) p.(=) PDZ 2 (211-281) 1 Parent #2 - pathogenic g.17565819C>T g.17544272C>T - - USH1C_000100 heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband F - France - - 0 - - 1 Crystel Bonnet
+/+ 1i c.36+1G>T r.(?) p.(?) - 1i Parent #2 - pathogenic g.17565818C>A g.17544271C>A - - USH1C_000032 heterozygous PubMed: Zwaenepoel 2001 - - Germline - 0/100 controls - 0 - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - - - - 0 - - 1 Anne-Françoise Roux
+/+ 1i c.36+1G>T r.(?) p.(?) - 1i Parent #2 - pathogenic g.17565818C>A g.17544271C>A - - USH1C_000032 heterozygous PubMed: Zwaenepoel 2001 - - Germline - 0/100 controls - 0 - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - - - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-153G>T r.(=) p.(=) - 1i Unknown - benign g.17555022C>A g.17533475C>A - - USH1C_000059 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs41274344 Germline - 0/96 controls -MnlI 0 - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
-/- 1i c.37-153G>T r.(=) p.(=) - 1i Unknown - benign g.17555022C>A g.17533475C>A - - USH1C_000059 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs41274344 Germline - 0/96 controls -MnlI 0 - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
-/- 1i c.37-153G>T r.(=) p.(=) - 1i Unknown ACMG likely benign g.17555022C>A g.17533475C>A - - USH1C_000059 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs41274344 Germline - 0/96 controls -MnlI 0 - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
-/- 1i c.37-153G>T r.(=) p.(=) - 1i Unknown ACMG likely benign g.17555022C>A g.17533475C>A - - USH1C_000059 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs41274344 Germline - 0/96 controls -MnlI 0 - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
-/? 1i c.37-111A>C r.(=) p.(=) - 1i Unknown ACMG likely benign g.17554980T>G g.17533433T>G - - USH1C_000067 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - - Germline - 0/96 controls +FauI;+AciI;-BpmI;-CviKI_1; 0 - DNA SEQ - - USH - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
-/- 1i c.37-61A>G r.(=) p.(=) - 1i Paternal (inferred) - benign g.17554930T>C g.17533383T>C - - USH1C_000028 homozygous PubMed: Roux 2006 - rs878546 Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-61A>G r.(=) p.(=) - 1i Maternal (inferred) - pathogenic g.17554930T>C g.17533383T>C - - USH1C_000028 homozygous PubMed: Roux 2006 - rs878546 Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-61A>G r.(=) p.(=) - 1i Unknown - pathogenic g.17554930T>C g.17533383T>C - - USH1C_000028 heterozygous PubMed: Roux 2011 - rs878546 Germline - - - 0 - DNA minigene, SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/? 1i c.37-52A>G r.(=) p.(=) PDZ 1 (87-155) 1i Unknown ACMG VUS g.17554921T>C g.17533374T>C - - USH1C_000071 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs146780803 Germline - 0/96 controls none 0 - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
-/- 1i c.37-48G>T r.(=) p.(=) - 1i Paternal (inferred) - benign g.17554917C>A g.17533370C>A - - USH1C_000027 homozygous PubMed: Roux 2006 - - Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-48G>T r.(=) p.(=) - 1i Maternal (inferred) - benign g.17554917C>A g.17533370C>A - - USH1C_000027 homozygous PubMed: Roux 2006 - - Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-47G>T r.(=) p.(=) - 1i Unknown - benign g.17554916C>A g.17533369C>A - - USH1C_000020 heterozygous PubMed: Roux 2006 - rs2355022 Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-47G>T r.(=) p.(=) - 1i Paternal (inferred) - benign g.17554916C>A g.17533369C>A - - USH1C_000020 homozygous PubMed: Roux 2006 - rs2355022 Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-47G>T r.(=) p.(=) - 1i Maternal (inferred) - benign g.17554916C>A g.17533369C>A - - USH1C_000020 homozygous PubMed: Roux 2006 - rs2355022 Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-47G>T r.(=) p.(=) - 1i Unknown - benign g.17554916C>A g.17533369C>A - - USH1C_000020 heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs2355022 Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-45C>G r.(=) p.(=) - 1i Paternal (inferred) - benign g.17554914G>C g.17533367G>C - - USH1C_000019 homozygous PubMed: Roux 2006 - rs2240489 Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-45C>G r.(=) p.(=) - 1i Maternal (inferred) - benign g.17554914G>C g.17533367G>C - - USH1C_000019 homozygous PubMed: Roux 2006 - rs2240489 Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-45C>G r.(=) p.(=) - 1i Unknown - benign g.17554914G>C g.17533367G>C - - USH1C_000019 heterozygous PubMed: Roux 2011 - rs2240489 Germline - - - 0 - DNA minigene, SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-45C>G r.(=) p.(=) - 1i Both (homozygous) - benign g.17554914G>C g.17533367G>C - - USH1C_000019 - PubMed: Roux 2011 - rs2240489 Germline - - - 0 - DNA SEQ - - USH1 U819 PubMed: Roux 2011 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-45C>G r.(=) p.(=) - 1i Unknown - benign g.17554914G>C g.17533367G>C - - USH1C_000019 heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs2240489 Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 1i c.37-45C>G r.(=) p.(=) - 1i Unknown - benign g.17554914G>C g.17533367G>C - - USH1C_000019 heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs2240489 Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/? 1i c.37-43_37-42dup r.(?) p.(?) - 1i Unknown - benign g.17554912_17554913dup g.17533365_17533366dup - - USH1C_000041 heterozygous PubMed: Roux 2011 - rs5789992 Germline - - - 0 - DNA minigene, SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - 0 - - 1 Anne-Françoise Roux
?/. - c.38T>C r.(?) p.(Val13Ala) - - Unknown - VUS g.17554868A>G g.17533321A>G USH1C(NM_153676.3):c.38T>C (p.V13A) - USH1C_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.91C>A r.(?) p.(Arg31*) - - Parent #1 - pathogenic (recessive) g.17554815G>A g.17533268G>A 91C>A - USH1C_000031 - PubMed: Cremers 2007 - - Germline - - - 0 - DNA PE - - retinal disease USH1-17 PubMed: Cremers 2007 - M no Denmark - - 0 - - 1 LOVD
+/+ 2 c.91C>T r.(?) p.(Arg31*) - 2 Parent #2 - pathogenic g.17554815G>A g.17533268G>A - - USH1C_000031 heterozygous PubMed: Zwaenepoel 2001 - rs121908370 Germline - - - 0 - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - - - - 0 - - 1 Anne-Françoise Roux
-?/? 2 c.101A>G r.(?) p.(His34Arg) - 2 Unknown ACMG likely benign g.17554805T>C g.17533258T>C - - USH1C_000084 heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - +AciI 0 - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - Algeria - - 0 - - 1 Anne-Françoise Roux
-/. - c.101A>G r.(?) p.(His34Arg) - - Unknown - benign g.17554805T>C g.17533258T>C USH1C(NM_153676.3):c.101A>G (p.H34R) - USH1C_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.104+1G>A r.spl? p.? - - Unknown - pathogenic g.17554801C>T g.17533254C>T - - USH1C_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2i c.104+1G>A r.(?) p.(?) - 2i Parent #2 - pathogenic g.17554801C>T g.17533254C>T - - USH1C_000097 heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband F - France - - 0 - - 1 Crystel Bonnet
+/+ 2i_27_ c.104+580_*437del r.? p.? PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825) 2_21 Both (homozygous) - pathogenic (recessive) g.17431532_17554222del g.17409985_17532675del 105_2700del - USH1C_000034 - PubMed: Bitner-Glindzicz 2000 - - Germline yes - - 0 - DNA SEQ - - USH Fam1PatV1 PubMed: Bitner-Glindzicz 2000 5-generation family, 2 affected (F, M), proband M - - - - 0 - - 2 Anne-Françoise Roux
+/+ 2i_27_ c.104+580_*437del r.(?) p.(?) PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825) 2_21 Both (homozygous) - pathogenic (recessive) g.17431532_17554222del g.17409985_17532675del - - USH1C_000034 - PubMed: Bitner-Glindzicz 2000 - - Germline yes - - 0 - DNA SEQ - - USH Fam2PatIV2 PubMed: Bitner-Glindzicz 2000 4-generation family, 4 affected (2f, 2M), proband F - - - - 0 - - 1 Anne-Françoise Roux
+/+ 2i_27_ c.104+580_*437del r.? p.? PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825) 2_21 Both (homozygous) - pathogenic (recessive) g.17431532_17554222del g.17409985_17532675del 105_2700del - USH1C_000034 - PubMed: Bitner-Glindzicz 2000 - - Germline yes - - 0 - DNA SEQ - - USH Fam2PatIV4 PubMed: Bitner-Glindzicz 2000 relative M - - - - 0 - - 1 Anne-Françoise Roux
-/. - c.105-16C>T r.(=) p.(=) - - Unknown - benign g.17553105G>A g.17531558G>A USH1C(NM_153676.4):c.105-16C>T - USH1C_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.105-16C>T r.(=) p.(=) - - Unknown - benign g.17553105G>A g.17531558G>A USH1C(NM_153676.4):c.105-16C>T - USH1C_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 2i c.105-16C>T r.(=) p.(=) - 2i Unknown - benign g.17553105G>A g.17531558G>A - - USH1C_000045 heterozygous PubMed: Roux 2011 - rs2041027 Germline - - -BssKI;-NciI;-BsmI;-ScrFI;-StyD4I; 0 - DNA minigene, SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 2i c.105-16C>T r.(=) p.(=) - 2i Both (homozygous) - benign g.17553105G>A g.17531558G>A - - USH1C_000045 - PubMed: Roux 2011 - rs2041027 Germline - - -BssKI;-NciI;-BsmI;-ScrFI;-StyD4I; 0 - DNA SEQ - - USH1 U819 PubMed: Roux 2011 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/. - c.105-4A>G r.spl? p.? - - Unknown - benign g.17553093T>C g.17531546T>C USH1C(NM_153676.3):c.105-4A>G - USH1C_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>T r.(?) p.(Asp38=) - - Unknown - likely benign g.17553080G>A g.17531533G>A USH1C(NM_153676.3):c.114C>T (p.D38=) - USH1C_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.127G>A r.(?) p.(Val43Met) - - Unknown - VUS g.17553067C>T g.17531520C>T USH1C(NM_153676.3):c.127G>A (p.V43M) - USH1C_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 3 c.187C>T r.(=) p.(Arg63Trp) PDZ 1 (87-155) 3 Paternal (confirmed) ACMG VUS g.17553007G>A g.17531460G>A - - USH1C_000086 heterozygous; potentially pathogenic PubMed: Ganapathy 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs375741564 Germline - 0/100 controls - 0 - DNA SEQ - - DFNB - PubMed: Ganapathy 2014 Proband F - India - - 0 - - 1 Anne-Françoise Roux
+?/? 3 c.187C>T r.(=) p.(Arg63Trp) PDZ 1 (87-155) 3 Paternal (confirmed) ACMG VUS g.17553007G>A g.17531460G>A - - USH1C_000086 heterozygous; potentially pathogenic PubMed: Ganapathy 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs375741564 Germline - 0/100 controls - 0 - DNA SEQ - - DFNB - PubMed: Ganapathy 2014 Relative F - India - - 0 - - 1 Anne-Françoise Roux
+?/. 3 c.216A>G r.(?) p.? - - Both (homozygous) - likely pathogenic g.17552978T>C - c.216A>G - USH1C_000233 - PubMed: Wafa-2021 - - Germline - - - 0 - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - 0 - - 1 LOVD
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Relative - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Relative - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #1 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Verpy 2000 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Verpy 2000 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(210_248del) p.(His70_Arg83delinsGln) - 3 Both (homozygous) - pathogenic (recessive) g.17552978C>T g.17531431C>T - - USH1C_000001 predicted splice effect questionable, correct probably r.214_248del (Val72Glufs*65) PubMed: Bitner-Glindzicz 2000 - - Germline yes 0/192 controls -DraIII 0 - DNA, RNA RT-PCR, SEQ - - USH1 Fam PubMed: Bitner-Glindzicz 2000 Acadian cell lines F yes United States - - 0 - - 2 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #2 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Zwaenepoel 2001 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 - PubMed: Zwaenepoel 2001 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #1 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband F - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #1 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #1 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #1 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband M - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband F - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Ebermann 2007 - - Germline - 1/454 controls -DraIII 0 - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Unknown - pathogenic g.17552978C>T g.17531431C>T p.Val72fs*136 (description of the splicing defect) - USH1C_000001 heterozygous PubMed: Kimberling 2010 - - Germline - - -DraIII 0 - DNA SEQ - - DFNB - PubMed: Kimberling 2010 Proband - No ophtalmologic examination - - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Both (homozygous) - pathogenic (recessive) g.17552978C>T g.17531431C>T - - USH1C_000001 - PubMed: Roux 2011 - - Germline - - -DraIII 0 - DNA SEQ - - USH1 U819 PubMed: Roux 2011 Proband M - France - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Bujakowska 2014 - - Germline - - -DraIII 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Paternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Bujakowska 2014 - - Germline - - -DraIII 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #1 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Bujakowska 2014 - - Germline - - -DraIII 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #1 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Bujakowska 2014 - - Germline - - -DraIII 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #1 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Bujakowska 2014 - - Germline - - -DraIII 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Relative - - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Parent #2 - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Bujakowska 2014 - - Germline - - -DraIII 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband F - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Bujakowska 2014 - - Germline - - -DraIII 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) PDZ 2 (211-281) 3 Maternal (inferred) - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 homozygous PubMed: Bujakowska 2014 - - Germline - - -DraIII 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
+/+ 3 c.216G>A r.(?) p.(?) - 3 Unknown - pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 heterozygous PubMed: Bujakowska 2014 - - Germline - - -DraIII 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - 0 - - 1 Anne-Françoise Roux
+/. - c.216G>A r.(?) p.(Val72=) - - Unknown - pathogenic g.17552978C>T g.17531431C>T USH1C(NM_153676.3):c.216G>A (p.V72=) - USH1C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.216G>A r.214_248del p.Val72Glufs*65 - - Both (homozygous) - pathogenic (recessive) g.17552978C>T g.17531431C>T - - USH1C_000001 analysis mini-gene splicing assay and cell lines PubMed: Lentz 2005 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - USH Fam PubMed: Lentz 2005 lymphoblast cell lines from the Coriell cell repository for three Acadian Usher patients and unaffected family members (Family 1: GM09070, GM09071 and GM09072; Family 2: GM09456, GM09458 and GM09459; Family 3: GM10354 and GM10359) - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.216G>A r.(?) p.(Val72=) - - Unknown - pathogenic g.17552978C>T g.17531431C>T USH1C(NM_153676.3):c.216G>A (p.V72=) - USH1C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.216G>A r.(=) p.(=) - - Unknown - pathogenic (recessive) g.17552978C>T - 11:17552978C>T ENST00000005226.7:c.216G>A (?)) - USH1C_000001 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WGS retinal disease W000376 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - 0 - - 1 LOVD
+?/. - c.216G>A r.(?) p.(Val72=) - - Both (homozygous) - likely pathogenic g.17552978C>T g.17531431C>T - - USH1C_000001 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 540 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. - c.216G>A r.spl? p.(Val72=) - - Unknown - likely pathogenic g.17552978C>T g.17531431C>T USH1C c.216G>A, c.216G>A(p.%3D) - USH1C_000001 heterozygous, probable splicing alteration PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000376 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - 0 - - 1 LOVD
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