Full data view for gene CLRN1


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

448 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/? 1 c.-290G>A r.(=) p.(=) - Unknown ACMG likely benign g.150690785C>T g.150972998C>T - - CLRN1_000028 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - - Germline - 0/96 controls +EarI;+MboII;-BseRI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
?/. - c.-289G>A r.(=) p.(=) - Parent #1 - VUS g.150690784C>T g.150972997C>T - - CLRN1-AS1_000004 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55842922 Germline - 13/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
-/? 1 c.-91C>T r.(=) p.(=) - Unknown ACMG likely benign g.150690586G>A g.150972799G>A - - CLRN1_000024 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs73155722 Germline - 0/96 controls +AlwNI - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 1 c.6A>C r.(?) p.(=) - Paternal (confirmed) - benign g.150690490T>G g.150972703T>G - - CLRN1_000027 heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs111033422 Germline - 4/844 controls +BseYI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 1 c.6A>C r.(?) p.(=) - Unknown - benign g.150690490T>G g.150972703T>G - - CLRN1_000027 heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs111033422 Germline - 4/844 controls +BseYI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
?/. - c.9C>A r.(?) p.(Ser3Arg) - Unknown - VUS g.150690487G>T g.150972700G>T - - CLRN1-AS1_000002 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs187218889 Germline - 13/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 13 Yoshito Koyanagi
?/. - c.9C>A r.(?) p.(Ser3Arg) - Both (homozygous) - VUS g.150690487G>T g.150972700G>T - - CLRN1-AS1_000002 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs187218889 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. - c.14A>G r.(?) p.(Gln5Arg) - Unknown - VUS g.150690482T>C g.150972695T>C CLRN1(NM_001256819.1):c.14A>G (p.Q5R) - CLRN1-AS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.19A>C r.(?) p.(Lys7Gln) - Paternal (inferred) ACMG VUS g.150690477T>G g.150972690T>G - - CLRN1_000041 homozygous; mutation PubMed: Jiang 2015; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proabnd F - China - - - - - 1 Anne-Françoise Roux
+?/? 1 c.19A>C r.(?) p.(Lys7Gln) - Maternal (inferred) ACMG VUS g.150690477T>G g.150972690T>G - - CLRN1_000041 homozygous; mutation PubMed: Jiang 2015; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proabnd F - China - - - - - 1 Anne-Françoise Roux
?/. - c.20A>T r.(?) p.(Lys7Ile) - Unknown - VUS g.150690476T>A g.150972689T>A - - CLRN1-AS1_000001 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3796241 Germline - 17/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 17 Yoshito Koyanagi
-/. - c.57A>T r.(?) p.(Ala19=) - Unknown - benign g.150690439T>A g.150972652T>A - - CLRN1_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.65T>A r.(?) p.(Leu22His) - Unknown - likely pathogenic g.150690431A>T g.150972644A>T CLRN1(USH3A);NM_001195794.1;c.[118T>G];[65T>A];p.[(Cys40Gly)];[(Leu22His)] - CLRN1_000264 compound heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 12 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/+ 1 c.67G>T r.(?) p.(Gly23*) Transmembrane 1 (8-28) Paternal (inferred) - pathogenic g.150690429C>A g.150972642C>A - - CLRN1_000035 homozygous PubMed: Besnard, Garcia-Garcia 2014 - - Germline - - +BspCNI;+DdeI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 1 c.67G>T r.(?) p.(Gly23*) Transmembrane 1 (8-28) Maternal (inferred) - pathogenic g.150690429C>A g.150972642C>A - - CLRN1_000035 homozygous PubMed: Besnard, Garcia-Garcia 2014 - - Germline - - +BspCNI;+DdeI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Paternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Paternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Paternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Paternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Paternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Paternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Maternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Maternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Maternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Maternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Maternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/? 1 c.92C>T r.(?) p.(Pro31Leu) - Maternal (inferred) ACMG likely pathogenic g.150690404G>A g.150972617G>A - - CLRN1_000020 homozygous; Pathogenic PubMed: Khan 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - - Germline - 0/180 controls +TspRI - - DNA SEQ - - RPar - PubMed: Khan 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+?/. - c.98G>A r.(?) p.(Trp33*) - Parent #1 - likely pathogenic g.150690398C>T g.150972611C>T CLRN1 c.98G>A , p.(Trp33Ter) - CLRN1_000256 heterozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 20 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+?/. - c.118T>G r.(?) p.(Cys40Gly) - Unknown - likely pathogenic g.150690378A>C g.150972591A>C - - CLRN1_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.118T>G r.(?) p.(Cys40Gly) - Paternal (inferred) - pathogenic g.150690378A>C g.150972591A>C - - CLRN1_000011 homozygous PubMed: Aller 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908143 Germline - 0/192 controls - - - DNA SEQ - - USH3 - PubMed: Aller 2004 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 1 c.118T>G r.(?) p.(Cys40Gly) - Maternal (inferred) - pathogenic g.150690378A>C g.150972591A>C - - CLRN1_000011 homozygous PubMed: Aller 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908143 Germline - 0/192 controls - - - DNA SEQ - - USH3 - PubMed: Aller 2004 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/. - c.118T>G r.(?) p.(Cys40Gly) - Unknown - pathogenic g.150690378A>C g.150972591A>C NM_174878.2:118T>G (Cys40Gly) - CLRN1_000011 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 1929 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.118T>G r.(?) p.(Cys40Gly) - Unknown - likely pathogenic g.150690378A>C g.150972591A>C CLRN1(USH3A);NM_001195794.1;c.[118T>G];[65T>A];p.[(Cys40Gly)];[(Leu22His)] - CLRN1_000011 compound heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 12 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.118T>G r.(?) p.(Cys40Gly) - Unknown ACMG likely pathogenic (recessive) g.150690378A>C g.150972591A>C - - CLRN1_000011 ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG PubMed: Weisschuh 2024 4399 - Germline - - - - - DNA SEQ-NG - WGS ? USHII-364 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-/? 1 c.126G>A r.(?) p.(=) - Unknown ACMG likely benign g.150690370C>T g.150972583C>T - - CLRN1_000026 heterozygous; UV1 PubMed: Le Quesne Stabej 2012 - rs151049166 Germline - 0/878 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/? 1 c.126G>A r.(?) p.(=) - Unknown ACMG likely benign g.150690370C>T g.150972583C>T - - CLRN1_000026 heterozygous; UV1 PubMed: Le Quesne Stabej 2012 - rs151049166 Germline - 0/96 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
?/. - c.142A>G r.(?) p.(Asn48Asp) - Unknown - VUS g.150690354T>C - CLRN1(NM_001256819.1):c.142A>G (p.N48D) - CLRN1_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.144T>G r.(?) p.(Asn48Lys) - Both (homozygous) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000234 - Sharon, submitted - - Germline - - - - - DNA SEQ - - USH3A - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - 3 Dror Sharon
+/. - c.144T>G r.(?) p.(Asn48Lys) - Unknown - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000234 - Sharon, submitted - - Germline - - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Parent #1 - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 heterozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Adato 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 1/220 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Adato 2002 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband M - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Parent #1 - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 heterozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband M - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Fields 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 0/200 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Fields 2002 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Relative F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Maternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Ness 2003; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - 3/838 controls +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Ness 2003 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Herrera 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - - +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Herrera 2008 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Herrera 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - - +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Herrera 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - - +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - RPar - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Herrera 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - - +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Herrera 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - - +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Herrera 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - - +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Herrera 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - - +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Herrera 2008 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Paternal (inferred) - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 homozygous PubMed: Herrera 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - - +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Herrera 2008 Relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 1 c.144T>G r.(?) p.(Asn48Lys) - Parent #1 - pathogenic g.150690352A>C g.150972565A>C - - CLRN1_000007 heterozygous PubMed: Herrera 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033258 Germline - - +PhoI;+StuI;+HaeIII;+CviKI_1; - - DNA SEQ - - USH3 - PubMed: Herrera 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
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