LOVD-USHBases

LOVD - Variant listings for CLRN1

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-/? Exon 01 c.-290G>A
    + 16 others
r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +EarI;+MboII;-BseRI;-MnlI; CLRN1_00028 g.150690785C>T UK0336800012 Usher type II (USH2) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/? Exon 01 c.-91C>T
    + 14 others
r.(=) p.(=) - Heterozygous UV1 rs73155722 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +AlwNI CLRN1_00024 g.150690586G>A UK0314600012 Usher type I (USH1) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/- Exon 01 c.6A>C
    + PCDH15 (2), USH2A (6), USH1G (1)
r.(?) p.(=) - Heterozygous Neutral rs111033422 Le Quesne Stabej et al., 2012 Neutral 4/844 controls - HSF +BseYI CLRN1_00027 g.150690490T>G UK0320500012 Usher type II (USH2) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/- Exon 01 c.6A>C
    + 32 others
r.(?) p.(=) - Heterozygous Neutral rs111033422 Le Quesne Stabej et al., 2012 Neutral 4/844 controls - HSF +BseYI CLRN1_00027 g.150690490T>G UK0342700012 Usher type II (USH2) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
+?/? Exon 01 c.19A>C
    + c.19A>C
r.(?) p.(Lys7Gln) - Homozygous UV3 - Jiang et al., 2015 mutation - USMA MSV3d HSF - CLRN1_00041 g.150690477T>G CN01067USHsrf670 Usher type II (USH2) Jiang et al., 2015 DNA SEQ, SEQ-NG-S Proabnd 1 Female CHINA
+/+ Exon 01 c.67G>T
    + c.67G>T
r.(?) p.(Gly23*) Transmembrane 1 (8-28) Homozygous Pathogenic - Besnard, Garcia-Garcia et al., 2014 - - - HSF +BspCNI;+DdeI; CLRN1_00035 g.150690429C>A FR011018RP16112 Usher type II (USH2) Besnard, Garcia-Garcia et al., 2014 DNA SEQ, SEQ-NG-S Proband 1 - SPAIN
+/? Exon 01 c.92C>T
    + c.92C>T
r.(?) p.(Pro31Leu) - Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF +TspRI CLRN1_00020 g.150690404G>A NL0101800011 Autosomal recessive retinitis pigmentosa (ARRP) Khan et al., 2011 DNA SEQ Proband 1 Male PAKISTAN
+/? Exon 01 c.92C>T
    + c.92C>T
r.(?) p.(Pro31Leu) - Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF +TspRI CLRN1_00020 g.150690404G>A NL0101800030 Autosomal recessive retinitis pigmentosa (ARRP) Khan et al., 2011 DNA SEQ Relative 1 Female PAKISTAN
+/? Exon 01 c.92C>T
    + c.92C>T
r.(?) p.(Pro31Leu) - Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF +TspRI CLRN1_00020 g.150690404G>A NL0101800060 Autosomal recessive retinitis pigmentosa (ARRP) Khan et al., 2011 DNA SEQ Relative 1 Female PAKISTAN
+/? Exon 01 c.92C>T
    + c.92C>T
r.(?) p.(Pro31Leu) - Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF +TspRI CLRN1_00020 g.150690404G>A NL0101800421 Autosomal recessive retinitis pigmentosa (ARRP) Khan et al., 2011 DNA SEQ Relative 1 Male PAKISTAN
+/? Exon 01 c.92C>T
    + c.92C>T
r.(?) p.(Pro31Leu) - Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF +TspRI CLRN1_00020 g.150690404G>A NL0101800431 Autosomal recessive retinitis pigmentosa (ARRP) Khan et al., 2011 DNA SEQ Relative 1 Male PAKISTAN
+/? Exon 01 c.92C>T
    + c.92C>T
r.(?) p.(Pro31Leu) - Homozygous UV4 - Khan et al., 2011 Pathogenic 0/180 controls USMA MSV3d HSF +TspRI CLRN1_00020 g.150690404G>A NL0101800440 Autosomal recessive retinitis pigmentosa (ARRP) Khan et al., 2011 DNA SEQ Relative 1 Female PAKISTAN
+/+ Exon 01 c.118T>G
    + c.118T>G
r.(?) p.(Cys40Gly) - Homozygous Pathogenic rs121908143 Aller et al., 2004 - 0/192 controls USMA MSV3d HSF - CLRN1_00011 g.150690378A>C SP0100100012 Usher type III (USH3) Aller et al., 2004 DNA SEQ Proband 1 - SPAIN
-/? Exon 01 c.126G>A
    + PCDH15 (1), USH2A (5), CDH23 (1)
r.(?) p.(=) - Heterozygous UV1 rs151049166 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF none CLRN1_00026 g.150690370C>T UK0319200012 Usher type II (USH2) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/? Exon 01 c.126G>A
    + MYO7A (2), USH2A (4), WHRN (1)
r.(?) p.(=) - Heterozygous UV1 rs151049166 Le Quesne Stabej et al., 2012 UV1 0/878 controls - HSF none CLRN1_00026 g.150690370C>T UK0338600012 Usher type II (USH2) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Isosomppi et al., 2009 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C FI0106000012 Usher type III (USH3) Isosomppi et al., 2009 DNA SEQ Proband 1 - CANADA
+/+ Exon 01 c.144T>G
    + c.528T>G
r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Isosomppi et al., 2009 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C FI0106100012 Usher type III (USH3) Isosomppi et al., 2009 DNA SEQ Proband 1 - FINLAND
+/+ Exon 01 c.144T>G r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Adato et al., 2002 - 1/220 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C IL0100100010 Usher type III (USH3) Adato et al., 2002 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Adato et al., 2002 - 1/220 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C IL0100200010 Usher type III (USH3) Adato et al., 2002 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Adato et al., 2002 - 1/220 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C IL0100300011 Usher type III (USH3) Adato et al., 2002 DNA SEQ Proband 1 Male -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Adato et al., 2002 - 1/220 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C IL0100300021 Usher type III (USH3) Adato et al., 2002 DNA SEQ Relative 1 Male -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Adato et al., 2002 - 1/220 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C IL0100300030 Usher type III (USH3) Adato et al., 2002 DNA SEQ Relative 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Adato et al., 2002 - 1/220 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C IL0100400010 Usher type III (USH3) Adato et al., 2002 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Fields et al., 2002 - 0/200 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0110530010 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 Female U.S.A.
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Fields et al., 2002 - 0/200 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0124170012 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 - U.S.A.
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Fields et al., 2002 - 0/200 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0125390012 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 - U.S.A.
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Fields et al., 2002 - 0/200 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0125570010 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 Female U.S.A.
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Fields et al., 2002 - 0/200 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0180300011 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 Male U.S.A.
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Fields et al., 2002 - 0/200 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0188500010 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 Female U.S.A.
+/+ Exon 01 c.144T>G
    + c.449T>C
r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Fields et al., 2002 - 0/200 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0194700012 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 - U.S.A.
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0218100010 Usher type III (USH3) Ness et al., 2003 DNA SEQ Relative 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0218100031 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Male -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0218700031 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Male -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0219100011 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Male -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0219500020 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0219500030 Usher type III (USH3) Ness et al., 2003 DNA SEQ Relative 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0219800010 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0219900011 Usher type III (USH3) Ness et al., 2003 DNA SEQ Relative 1 Male -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0219900021 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Male -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0220100020 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0220200020 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0220300020 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0220600020 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ness et al., 2003 - 3/838 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0221400030 Usher type III (USH3) Ness et al., 2003 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300100011 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Male -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300200010 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300300010 Autosomal recessive retinitis pigmentosa (ARRP) Herrera et al., 2008 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300400010 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300500010 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300600010 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300700011 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Male -
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300700021 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Relative 1 Male -
+/+ Exon 01 c.144T>G
    + c.449T>C
r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300800010 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0300900010 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Herrera et al., 2008 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C US0301000010 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Female -
+/+ Exon 01 c.144T>G
    + c.144T>G, USH2A (3), CDH23 (1), MYO7A (1), GPR98 (1)
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Le Quesne Stabej et al., 2012 Pathogenic 0/878 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C UK0308200012 Usher type III (USH3) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
+/+ Exon 01 c.144T>G
    + c.144T>G, USH2A (3), CDH23 (1), MYO7A (1), GPR98 (1)
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Le Quesne Stabej et al., 2012 Pathogenic 0/878 controls USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C UK0308200012 Usher type III (USH3) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
+/+ Exon 01 c.144T>G
    + c.563C>A
r.(?) p.(Asn48Lys) - Heterozygous Pathogenic rs111033258 Ratnam et al., 2012 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C FI0106400011 Usher type III (USH3) Ratnam et al., 2012 DNA SEQ Proband 1 Male FINLAND
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ratnam et al., 2012 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C FI0106500020 Usher type III (USH3) Ratnam et al., 2012 DNA SEQ Proband 1 Female FINLAND
+/+ Exon 01 c.144T>G
    + c.144T>G
r.(?) p.(Asn48Lys) - Homozygous Pathogenic rs111033258 Ratnam et al., 2012 - - USMA MSV3d HSF +PhoI;+StuI;+HaeIII;+CviKI_1; CLRN1_00007 g.150690352A>C FI0106600030 Usher type III (USH3) Ratnam et al., 2012 DNA SEQ Proband 1 Female FINLAND
+/+ Exon 01 c.144T>G
    + c.176del
r.(?) p.(Asn48Lys) - Heterozygous - rs111033258 Bonnet et al., 2016 mutation - USMA MSV3d HSF - CLRN1_00007 g.150690352A>C FR02CL226442 Usher type II (USH2) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 - FRANCE
+/+ Exon 01 c.149_152delCAGG
    + c.504dup
r.(?) p.(Ser50Cysfs*21) - Heterozygous Pathogenic - Ebermann et al., 2007(2) - - - HSF - CLRN1_00003 g.150690344_150690347delCCTG DE0100200021 Usher type III (USH3) Ebermann et al., 2007(2) DNA SEQ Proband 1 Male GERMANY
+/+ Exon 01 c.149_152delCAGG
    + c.504dup
r.(?) p.(Ser50Cysfs*21) - Heterozygous Pathogenic - Ebermann et al., 2007(2) - - - HSF - CLRN1_00003 g.150690344_150690347delCCTG DE0100200031 Usher type III (USH3) Ebermann et al., 2007(2) DNA SEQ Relative 1 Male GERMANY
+/+ Exon 01 c.149_152delCAGG
    + c.504dup
r.(?) p.(Ser50Cysfs*21) - Heterozygous Pathogenic - Ebermann et al., 2007(2) - - - HSF - CLRN1_00003 g.150690344_150690347delCCTG DE0100200041 Usher type III (USH3) Ebermann et al., 2007(2) DNA SEQ Relative 1 Male GERMANY
+/+ Exon 01 c.149_152delCAGG
    + c.149_152delCAGG
r.(?) p.(Ser50Cysfs*21) - Homozygous Pathogenic - Fields et al., 2002 - 0/200 controls - HSF - CLRN1_00003 g.150690344_150690347delCCTG US0130870011 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 Male U.S.A.
+/+ Exon 01 c.149_152delCAGG
    + c.528T>G
r.(?) p.(Ser50Cysfs*21) - Heterozygous Pathogenic - Fields et al., 2002 - 0/200 controls - HSF - CLRN1_00003 g.150690344_150690347delCCTG US0163500010 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 Female U.S.A.
+/+ Exon 01 c.149_152delCAGG
    + c.528T>G
r.(?) p.(Ser50Cysfs*21) - Heterozygous Pathogenic - Sadeghi et al., 2005 - - - HSF - CLRN1_00003 g.150690344_150690347delCCTG US0163500061 Usher type III (USH3) Sadeghi et al., 2005 DNA SEQ Relative 1 Male U.S.A.
+/+ Exon 01 c.149_152delCAGG
    + c.528T>G
r.(?) p.(Ser50Cysfs*21) - Heterozygous Pathogenic - Sadeghi et al., 2005 - - - HSF - CLRN1_00003 g.150690344_150690347delCCTG US0163500071 Usher type III (USH3) Sadeghi et al., 2005 DNA SEQ Relative 1 Male U.S.A.
+/+ Exon 01 c.149_152delCAGGinsTGTCCAAT
    + c.149_152delCAGGinsTGTCCAAT, USH2A (3), CDH23 (1), PCDH15 (1), MYO7A (1), GPR98 (1)
r.(?) p.(Ser50Leufs*12) - Homozygous Pathogenic - Le Quesne Stabej et al., 2012 Pathogenic 0/96 controls - HSF +HpyCH4V;-MnlI;-DdeI;-BspCNI;-Bsu36I; CLRN1_00022 g.150690344_150690347delinsATTGGACA UK0304900012 Usher type III (USH3) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
+/+ Exon 01 c.149_152delCAGGinsTGTCCAAT
    + c.149_152delCAGGinsTGTCCAAT, USH2A (3), CDH23 (1), PCDH15 (1), MYO7A (1), GPR98 (1)
r.(?) p.(Ser50Leufs*12) - Homozygous Pathogenic - Le Quesne Stabej et al., 2012 Pathogenic 0/96 controls - HSF +HpyCH4V;-MnlI;-DdeI;-BspCNI;-Bsu36I; CLRN1_00022 g.150690344_150690347delinsATTGGACA UK0304900012 Usher type III (USH3) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
+/+ Exon 01 c.149_152delCAGGinsTGTCCAAT r.(?) p.(Ser50Leufs*23) - Heterozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - CLRN1_00003 g.150690344_150690347delCCTG DE03CL1741 Usher type II (USH2) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 Male GERMANY
?/? Exon 01 c.161T>C r.(?) p.(Leu54Pro) - Heterozygous - - Isosomppi et al., 2009 - 0/90 controls USMA MSV3d HSF - CLRN1_00008 g.150690335A>G FI0106300012 Usher type III (USH3) Isosomppi et al., 2009 DNA SEQ Proband 1 - CANADA
+/+ Exon 01 c.165delC r.(?) p.(Asp55Glufs*17) - Heterozygous Pathogenic - Fields et al., 2002 - 0/200 controls - HSF - CLRN1_00013 g.150690331delG US0163800011 Usher type III (USH3) Fields et al., 2002 DNA SEQ Relative 1 Male U.S.A.
+/+ Exon 01 c.165delC r.(?) p.(Asp55Glufs*17) - Heterozygous Pathogenic - Fields et al., 2002 - 0/200 controls - HSF - CLRN1_00013 g.150690331delG US0163800021 Usher type III (USH3) Fields et al., 2002 DNA SEQ Relative 1 Male U.S.A.
+/+ Exon 01 c.165delC r.(?) p.(Asp55Glufs*17) - Heterozygous Pathogenic - Fields et al., 2002 - 0/200 controls - HSF - CLRN1_00013 g.150690331delG US0163800030 Usher type III (USH3) Fields et al., 2002 DNA SEQ Proband 1 Female U.S.A.
+/+ Exon 01 c.165delC r.(?) p.(Asp55Glufs*17) - Heterozygous Pathogenic - Fields et al., 2002 - 0/200 controls - HSF - CLRN1_00013 g.150690331delG US0163800180 Usher type III (USH3) Fields et al., 2002 DNA SEQ Relative 1 Female U.S.A.
+/+ Exon 01 c.165delC r.(?) p.(Asp55Glufs*17) - Heterozygous Pathogenic - Herrera et al., 2008 - - - HSF - CLRN1_00013 g.150690331delG US0301100010 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Relative 1 Female -
+/+ Exon 01 c.165delC r.(?) p.(Asp55Glufs*17) - Heterozygous Pathogenic - Herrera et al., 2008 - - - HSF - CLRN1_00013 g.150690331delG US0301100021 Usher type III (USH3) Herrera et al., 2008 DNA SEQ Proband 1 Male -
+/+ Exon 01 c.176del
    + c.144T>G
r.(?) p.(Gly59Valfs*13) - Heterozygous Pathogenic {dbSNP773036590 } mutation - - HSF - CLRN1_00207 g.150690320del FR02CL226442 Usher type II (USH2) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 - FRANCE
+/+ Exon 01 c.187_209del
    + c.187_209del
r.(?) p.(Tyr63Cysfs*59) - Homozygous Pathogenic - Adato et al., 2002 - 0/198 controls - HSF - CLRN1_00010 g.150690287_150690309del IL0100600011 Usher type III (USH3) Adato et al., 2002 DNA SEQ Proband 1 Male YEMEN
+/+ Exon 01 c.187_209del
    + c.187_209del
r.(?) p.(Tyr63Cysfs*59) - Homozygous Pathogenic - Adato et al., 2002 - 0/198 controls - HSF - CLRN1_00010 g.150690287_150690309del IL0100600021 Usher type III (USH3) Adato et al., 2002 DNA SEQ Relative 1 Male YEMEN
+/+ Exon 01 c.189C>A
    + c.189C>A
r.(?) p.(Tyr63*) - Homozygous Pathogenic rs111033267 Adato et al., 2002 - 0/134 controls - HSF - CLRN1_00009 g.150690307G>T IL0100500011 Usher type III (USH3) Adato et al., 2002 DNA SEQ Proband 1 Male SPAIN
+/+ Exon 01 c.189C>A
    + c.189C>A
r.(?) p.(Tyr63*) - Homozygous Pathogenic rs111033267 Adato et al., 2002 - 0/134 controls - HSF - CLRN1_00009 g.150690307G>T IL0100500020 Usher type III (USH3) Adato et al., 2002 DNA SEQ Relative 1 Female SPAIN
+/+ Exon 01 c.189C>A
    + c.189C>A
r.(?) p.(Tyr63*) - Homozygous Pathogenic rs111033267 Adato et al., 2002 - 0/134 controls - HSF - CLRN1_00009 g.150690307G>T IL0100500031 Usher type III (USH3) Adato et al., 2002 DNA SEQ Relative 1 Male SPAIN
+/+ Exon 01 c.189C>A
    + c.189C>A
r.(?) p.(Tyr63*) - Homozygous Pathogenic rs111033267 Garcia-Garcia et al., 2012 - 0/100 controls - HSF - CLRN1_00009 g.150690307G>T SP01FRP44RP6140 Usher type III (USH3) Garcia-Garcia et al., 2012 DNA APEX, SEQ Probadn 1 Female SPAIN
+/+ Exon 01 c.189C>A
    + c.619C>T
r.(?) p.(Tyr63*) - Heterozygous Pathogenic rs111033267 Garcia-Garcia et al., 2012 - 0/100 controls - HSF - CLRN1_00009 g.150690307G>T SP01FRP529RP18501 Usher type III (USH3) Garcia-Garcia et al., 2012 DNA APEX, SEQ Proband 1 Male SPAIN
+?/? Exon 01 c.190G>A
    + c.619C>T
r.(?) p.(Gly64Arg) - Heterozygous UV3 - Jiang et al., 2015 mutation - USMA MSV3d HSF - CLRN1_00039 g.150690306C>T CN01016USHsrf140 Usher type I (USH1) Jiang et al., 2015 DNA SEQ, SEQ-NG-S Proband 1 Female CHINA
+?/? Exon 01 c.191G>C
    + c.191G>C
r.(?) p.(Gly64Ala) - Homozygous UV3 - Jiang et al., 2015 mutation - USMA MSV3d HSF - CLRN1_00040 g.150690305C>G CN01066USHsrf660 Usher type II (USH2) Jiang et al., 2015 DNA SEQ, SEQ-NG-S Proband 1 Female CHINA
-?/? Exon 01 c.218A>G
    + MYO7A (1)
r.(?) p.(Gln73Arg) - Heterozygous UV2 rs201008540 Licastro et al., 2012 - - USMA MSV3d HSF - CLRN1_00038 - IT01A1800012 Usher type I (USH1) Licastro et al., 2012 DNA SEQ, SEQ-NG-S Proband 1 - ITALY
+/+ Exon 01 c.227dup
    + c.227dup
r.(?) p.(Leu76Phefs*54) - Homozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - CLRN1_00208 g.150690269dup FR02CL514036371 Usher type II (USH2) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 Male FRANCE
+/+ Exon 01 c.227dup
    + c.227dup
r.(?) p.(Leu76Phefs*54) - Homozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - CLRN1_00208 g.150690269dup FR02CL514036371 Usher type II (USH2) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 Male FRANCE
+/+ Exon 01 c.230dup
    + c.230dup
r.(?) p.(Ala78Serfs*52) - Homozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - CLRN1_00206 g.150690266dup FR02CL1882 Usher type II (USH2) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 - FRANCE
+/+ Exon 01 c.230dup
    + c.230dup
r.(?) p.(Ala78Serfs*52) - Homozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - CLRN1_00206 g.150690266dup FR02CL1882 Usher type II (USH2) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 - FRANCE
+?/? Exon 01 c.230G>A
    + c.230G>A
r.(?) p.(Gly77Glu) - Homozygous UV3 - Bonnet et al., 2016 mutation - USMA MSV3d HSF - CLRN1_00209 g.150690266C>T FR02CL6S51931 Usher type II (USH2) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 Male FRANCE
+?/? Exon 01 c.230G>A
    + c.230G>A
r.(?) p.(Gly77Glu) - Homozygous UV3 - Bonnet et al., 2016 mutation - USMA MSV3d HSF - CLRN1_00209 g.150690266C>T FR02CL6S51931 Usher type II (USH2) Bonnet et al., 2016, France:Paris DNA SEQ, SEQ-NG-S Proband 1 Male FRANCE
+/+ Exon 02 c.301_305del
    + c.301_305del
r.(?) p.(Val101Serfs*27) Transmembrane 2 (101-121) Homozygous Pathogenic - Akoury et al., 2011 Pathogenic 0/186 controls - HSF +Tsp509I;-MslI; CLRN1_00018 g.150659497_150659501del CA0100300051 Usher type III (USH3) Akoury et al., 2011 DNA SEQ Proband - intra-familial variability: patient CA0100300051 has an USH1-compatible phenotype, while his brother CA0100300071 has an USH3. 1 Male LEBANON
+/+ Exon 02 c.301_305del
    + c.301_305del
r.(?) p.(Val101Serfs*27) Transmembrane 2 (101-121) Homozygous Pathogenic - Akoury et al., 2011 Pathogenic 0/186 controls - HSF +Tsp509I;-MslI; CLRN1_00018 g.150659497_150659501del CA0100300071 Usher type III (USH3) Akoury et al., 2011 DNA SEQ Relative - intra-familial variability: patient CA0100300051 has an USH1-compatible phenotype, while his brother CA0100300071 has an USH3. 1 Male LEBANON
+/+ Exon 02 c.313T>C
    + c.313T>C
r.(?) p.(Ser105Pro) Transmembrane 2 (101-121) Homozygous Pathogenic - Sadeghi et al., 2005 - - USMA MSV3d HSF - CLRN1_00012 g.150659489A>G US0121300010 Usher type III (USH3) Sadeghi et al., 2005 DNA SEQ Proband 1 Female SWEDEN
+/+ Exon 02 c.313T>C
    + c.313T>C
r.(?) p.(Ser105Pro) Transmembrane 2 (101-121) Homozygous Pathogenic - Sadeghi et al., 2005 - - USMA MSV3d HSF - CLRN1_00012 g.150659489A>G US0121300021 Usher type III (USH3) Sadeghi et al., 2005 DNA SEQ Relative 1 Male SWEDEN
+/+ Exon 02 c.359T>A
    + c.528T>G
r.(?) p.(Met120Lys) Transmembrane 2 (101-121) Heterozygous Pathogenic rs121908141 Joensuu et al., 2001 - 0/302 controls USMA MSV3d HSF - CLRN1_00004 g.150659443A>T FI0100100011 Usher type III (USH3) Joensuu et al., 2001 DNA SEQ Proband 1 Male FINLAND
1 - 100
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Legend: [ CLRN1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Location: Variant location at DNA level. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Protein Domain: Protein Domain Inheritance: Type of inheritance (e.g. heterozygous) Variant remarks: Integrates Classification: Neutral - UV1 (certainly neutral) - UV2 (likely neutral) - UV3 (likely pathogenic) - UV4 (certainly pathogenic) - Pathogenic. Except for CHM where annotations concerning the effect of the variant are mentioned instead.

dbSNP/RFC: Accession number (rs) in dbSNP or link to reading frame checker Reference: Reference describing the variation Reported effect / publication: Original classification reported by the authors. Frequency: Frequency (control chromosomes) Missense: Create a link for USMA and/or MSV3d HSF: Direct link to HSF Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. CLRN1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Genomic DNA change: Genomic DNA change following hg19 Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Remarks: remarks on patient. # Reported: Number of times this case has been reported Gender: Patient gender Geographic origin: Geographic origin of patient