Full data view for gene USH2A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

228 entries on 3 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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous; non causative Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous; non causative Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous; non causative Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Parent #2 - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Romania - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Parent #1 - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - RPar - - Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous; Neutral Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ, SSCA - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous; Neutral Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ, SSCA - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous; Neutral Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous; Neutral Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous; Neutral Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ, SSCA - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - 0 - - 1 Jose Maria Millan
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Algeria - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Algeria - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Vaché 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Vaché 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - - Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - RPar - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Cameroon - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Cameroon - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Unknown - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - RPar - PubMed: Le Guédard-Méreuze 2010 Proband F - Iran - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - RPar - PubMed: Le Guédard-Méreuze 2010 Proband F - Iran - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Paternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband F - Austria - - 0 - - 1 Anne-Françoise Roux
-/- 32 c.6317C>T r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) Maternal (inferred) - benign g.216219781G>A - - - USH2A_000034 Homozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband F - Austria - - 0 - - 1 Anne-Françoise Roux
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