Full data view for gene CHM


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000390.2 transcript reference sequence.

610 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ _1_1i c.-2008_49+9142del pathogenic r.0? p.0? - Unknown g.85293346_85304544del - 1-2010_49+9140del - CHM_000112 hemizygous PubMed: van den Hurk 2003 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van den Hurk 2003 - M - - - - 0 - - 1 David Baux
+?/+? 1 c.-108A>G likely pathogenic r.(=) p.(=) - Unknown g.85302644T>C g.86047640T>C - - CHM_000451 Alteration of transcription observed in a luciferase reporter assay Vaché, Torriano et al., submitted - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG-I - - CHM CHM10 Vaché, Torriano et al., submitted - M no France - - 0 - - 1 David Baux
+/? 1 c.-98C>A pathogenic r.(?) p.(?) - Maternal (inferred) g.85302634G>T - -68C>A - CHM_000279 hemizygous; The variant was shown to abrogate gene expression in a promoter assay. PubMed: Radziwon 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Radziwon 2017 - M - - - - 0 - - 1 David Baux
+/+ 1 c.-98C>T pathogenic r.(?) p.(?) - Maternal (confirmed) g.85302634G>A - -68C>T - CHM_000280 hemizygous; The variant was shown to abrogate gene expression in a promoter assay. PubMed: Radziwon 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Radziwon 2017 - M - - - - 0 - - 1 David Baux
+/+ 1 c.-90C>G ACMG: 5 r.(=) p.(=) - Unknown g.85302626G>C g.86047622G>C - - CHM_000450 No transcript observed in patient's fibroblasts culture Vaché, Torriano et al., submitted - - Germline/De novo (untested) - - - 0 - DNA RT-PCR, SEQ, Western - - CHM CHM9 Vaché, Torriano et al., submitted - M no France - - 0 - - 1 David Baux
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 - Maternal (inferred) g.(85282562_85302487)_(85302566_?)del - 1-?_79+?del - CHM_000095 hemizygous; REP-1 not detected PubMed: Mc Taggart 2002 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Mc Taggart 2002 - M - - - - 0 - - 1 David Baux
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 - Maternal (inferred) g.(85282562_85302487)_(85302566_?)del - 1-?_79+?del - CHM_000095 hemizygous; REP-1 not detected PubMed: Mc Taggart 2002 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Mc Taggart 2002 - M - - - - 0 - - 1 David Baux
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 - Unknown g.(85282562_85302487)_(85302566_?)del - 1-?_79+?del - CHM_000095 heterozygous PubMed: Yau 2007 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Yau 2007 Carrier F - - - - 0 - - 1 David Baux
?/? _1_1i c.(?_-30)_(49+1_50-1)del VUS r.0 p.0 - Unknown g.(85282562_85302487)_(85302566_?)del - 1-?_79+?del - CHM_000095 heterozygous PubMed: Aleman TS 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Aleman TS 2017 - M - - - - 0 - - 1 David Baux
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 - Maternal (inferred) g.(85282562_85302487)_(85302566_?)del - 1-?_79+?del - CHM_000095 hemizygous PubMed: van den Hurk 1997 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van den Hurk 1997 - M - - - - 0 - - 1 David Baux
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 - Maternal (inferred) g.(85282562_85302487)_(85302566_?)del - 1-?_79+?del - CHM_000095 hemizygous PubMed: van den Hurk 1997 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van den Hurk 1997 - M - - - - 0 - - 1 David Baux
+/+ _1_2i c.(?_-30)_(116+1_117-1)del pathogenic r.0 p.0 - Maternal (inferred) g.(85236814_85282494)_(85302566_?)del - 1-?_146+?del - CHM_000096 hemizygous PubMed: van den Hurk 1997 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van den Hurk 1997 - M - - - - 0 - - 1 David Baux
+/+ _1_2i c.(?_-30)_(116+1_117-1)dup;c.1167-?_1510+?dup pathogenic r.0 p.0 - Maternal (inferred) g.? - 1-?_146+?dup;1197-?_1540+?dup - CHM_000350 hemizygous; Noncontiguous duplication of exons 1-2 and 9-12 PubMed: Edwards TL 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Edwards TL 2017 - - - - - - 0 - - 1 David Baux
+/+ _1_8i c.(?_-30)_(1166+1_1167-1)del pathogenic r.0 p.0 - Maternal (inferred) g.(85166344_85211157)_(85302566_?)del - 1-?_1196+?del - CHM_000097 hemizygous, DXS110-DXS540 del PubMed: van Bokhoven 1994 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - Sweden - - 0 - - 1 David Baux
+/+ _1_8i c.(?_-30)_(1166+1_1167-1)del pathogenic r.0 p.0 - Maternal (inferred) g.(85166344_85211157)_(85302566_?)del - 1-?_1196+?del - CHM_000097 hemizygous, DXS110-DXS540 del PubMed: van Bokhoven 1994 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - Germany - - 0 - - 1 David Baux
+/+ _1_11i c.(?_-30)_(1413+1_1414-1)del pathogenic r.0 p.0 - Maternal (inferred) g.(85149290_85155650)_(85302566_?)del - 1-?_1443+?del - CHM_000286 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Ramsden SC 2013 - M - United Kingdom (Great Britain) - - 0 - - 1 David Baux
+/+ _1_12i c.(?_-30)_(1510+1_1511-1)del pathogenic r.0 p.0 - Unknown g.(85134069_85149192)_(85302566_?)del - 1-?_1630+?del - CHM_000245 hemizygous PubMed: Dimopoulos IS 2016 - - Germline - - - 0 - DNA PCR - - CHM - PubMed: Dimopoulos IS 2016 No amplification of missing exons M - - - - 0 - - 1 alina radziwon
+/+ _1_13i c.(?_-30)_(1609+1_1610-1)del pathogenic r.0 p.0 - Maternal (inferred) g.(85128218_85133969)_(85302566_?)del - 1-?_1639+?del - CHM_000098 hemizygous PubMed: Fujiki 1999 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Fujiki 1999 - M - Japan - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Mc Taggart 2002 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Mc Taggart 2002 - M - - - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Mc Taggart 2002 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Mc Taggart 2002 - M - - - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Unknown g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Garcia-Hoyos 2008 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Garcia-Hoyos 2008 - M - Spain - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Poloschek 2008 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Poloschek 2008 Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome. M - - - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Poloschek 2008 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Poloschek 2008 Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome. M - - - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Strunnikova 2009 - - Germline - - - 0 - DNA, RNA, protein SEQ - - CHM - PubMed: Strunnikova 2009 Proband M - - - - 0 - - 1 Anne-Françoise Roux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (confirmed) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Esposito 2011 - - Germline - - - 0 - DNA, RNA, protein PCR, PTT, RT-PCR, SEQ - - CHM - PubMed: Esposito 2011 - M - Italy - - 0 - - 1 Anne-Françoise Roux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (confirmed) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Esposito 2011 - - Germline - - - 0 - DNA, RNA, protein PCR, PTT, RT-PCR, SEQ - - CHM - PubMed: Esposito 2011 - M - Italy - - 0 - - 1 Anne-Françoise Roux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS110-pJ7.6A del. PubMed: Cremers 1990 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Cremers 1990 - M - Germany - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from Ex1-DXS165 del PubMed: Cremers 1990 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Cremers 1990 - M - Germany - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (confirmed) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Khateb 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - CHM - PubMed: Khateb 2016 Proband - - Israel - - 0 - - 1 Anne-Françoise Roux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Unknown g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Aleman TS 2017 - - Germline - - - 0 - DNA PCR - - CHM - PubMed: Aleman TS 2017 - - - - - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Unknown g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS110 to DXS121. PubMed: van Bokhoven 1994 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - Finland - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS110 to DXS233 PubMed: van Bokhoven 1994 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - - - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Unknown g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: van Bokhoven 1994 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - - - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Unknown g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS110-pJ15 del PubMed: van Bokhoven 1994 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - Sweden - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS1002-pJ7.6A del PubMed: Schwartz 1993 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Schwartz 1993 - M - Denmark - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Unknown g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Ponjavic 1995 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Ponjavic 1995 - M - Sweden - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Unknown g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS95-DXS72 del. Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 Preising - - Germline - - - 0 - DNA SEQ - - CHM - Preising Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 M - - - - 0 - - 1 David Baux
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - Maternal (inferred) g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion Preising - - Germline - - - 0 - DNA SEQ - - CHM - Preising Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 M - - - - 0 - - 1 David Baux
+?/+ 1 c.3G>A ACMG: 4 r.3g>a p.0? - Maternal (inferred) g.85302534C>T - 33G>A - CHM_000128 hemizygous PubMed: Strunnikova 2009 - - Germline - - -BccI;-EciI; 0 - DNA, RNA, protein SEQ - - CHM - PubMed: Strunnikova 2009 Proband M - - - - 0 - - 1 Anne-Françoise Roux
+/. - c.3G>A pathogenic r.(?) p.0? - Maternal (inferred) g.85302534C>T - Met1? - CHM_000128 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
-?/. - c.8A>G likely benign r.(?) p.(Asp3Gly) - Unknown g.85302529T>C - CHM(NM_000390.2):c.8A>G (p.D3G) - CHM_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.16_17dup pathogenic r.16_17dup p.(Ser7Leufs*6) - Maternal (inferred) g.85302520_85302521dup - 46_47dupCC - CHM_000307 hemizygous PubMed: Dysli C 2016 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Dysli C 2016 - - - - - - 0 - - 1 David Baux
+/+ 1 c.17del pathogenic r.(?) p.(Pro6Leufs*6) - Maternal (inferred) g.85302520del - 47delC - CHM_000005 hemizygous; REP-1 not detected PubMed: Mc Taggart 2002 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Mc Taggart 2002 - M - - - - 0 - - 1 David Baux
+/+ 1 c.20C>A pathogenic r.20C>A p.(Ser7*) - Maternal (inferred) g.85302517G>T - 50C>A - CHM_000310 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Ramsden SC 2013 - M - United Kingdom (Great Britain) - - 0 - - 1 David Baux
+/+ 1 c.25_28delinsAGTAATAGTAA pathogenic r.25_28delUUUGinsAGUAAUAGUAA p.Phe9Serfs*14 - Maternal (inferred) g.85302509_85302512delinsTTACTATTACT - 55_58delTTTGinsAGTAATAGTAA - CHM_000282 hemizygous PubMed: Freund 2016 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Freund 2016 - M - - - - 0 - - 1 David Baux
+/+ 1 c.25_28delinsAGTAATAGTAA pathogenic r.25_28delUUUGinsAGUAAUAGUAA p.Phe9Serfs*14 - Unknown g.85302509_85302512delinsTTACTATTACT - 55_58delTTTGinsAGTAATAGTAA - CHM_000282 hemizygous PubMed: Aleman TS 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Aleman TS 2017 - - - - - - 0 - - 1 David Baux
+/. - c.25_28delinsAGTAATAGTAA pathogenic r.(?) p.(Phe9Serfs*14) - Maternal (inferred) g.85302509_85302512delinsTTACTATTACT - 25_28del4ins12 - CHM_000282 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
+/+ 1 c.37del pathogenic r.37del p.(Val13*) - Maternal (inferred) g.85302500del - 67del - CHM_000351 hemizygous PubMed: Freund 2016 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Freund 2016 - M - - - - 0 - - 1 David Baux
+/. - c.37del pathogenic r.(?) p.(Val13*) - Maternal (inferred) g.85302500del - 37delG - CHM_000351 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant F - United States - - 0 - - 1 Kerry Goetz
+/+ 1 c.49G>T pathogenic r.(?) p.(?) - Maternal (inferred) g.85302488C>A - 79G>T - CHM_000390 hemizygous; Likely affects splicing PubMed: Sanchez-Alcudia R 2016 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Sanchez-Alcudia R 2016 - M - Belgium - - 0 - - 1 David Baux
+/+ 1i c.49+1G>A pathogenic r.spl p.? - Maternal (inferred) g.85302487C>T - 79+1G>A - CHM_000006 hemizygous PubMed: Mc Taggart 2002 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Mc Taggart 2002 - M - - - - 0 - - 1 David Baux
+/. - c.49+1G>C pathogenic r.spl p.? - Unknown g.85302487C>G - - - CHM_000487 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE participant F - United States - - 0 - - 1 Kerry Goetz
+/. - c.49+1G>C pathogenic r.spl p.? - Unknown g.85302487C>G - - - CHM_000487 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE participant M - United States - - 0 - - 1 Kerry Goetz
+/+ 1i c.49+2dup pathogenic r.spl p.? - Maternal (inferred) g.85302486dup - 79+2dupT - CHM_000311 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Ramsden SC 2013 - M - United Kingdom (Great Britain) - - 0 - - 1 David Baux
+/. - c.49+2dup pathogenic r.spl? p.? - Unknown g.85302486dup - 49+2dupT - CHM_000311 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE participant M - United States - - 0 - - 1 Kerry Goetz
+/+ 1i c.49+3A>G pathogenic r.spl? p.? - Maternal (inferred) g.85302485T>C - 79+3A>G - CHM_000352 hemizygous PubMed: Freund 2016 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Freund 2016 - M - - - - 0 - - 1 David Baux
+/. - c.49+3A>G pathogenic r.spl? p.? - Maternal (inferred) g.85302485T>C - - - CHM_000352 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
+/+ 1i c.49+3del pathogenic r.spl? p.? - Maternal (inferred) g.85302485del - 79+3del - CHM_000406 hemizygous PubMed: Edwards TL 2015 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Edwards TL 2015 - M - - - - 0 - - 1 David Baux
+/+ 1i c.49+3_49+10delinsGCTT pathogenic r.spl? p.? - Unknown g.85302478_85302485delinsAAGC - 79+3_79+10delinsGCTT - CHM_000312 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Ramsden SC 2013 - M - United Kingdom (Great Britain) - - 0 - - 1 David Baux
+/+ 1i c.49+5G>T pathogenic r.spl? p.? - Maternal (inferred) g.85302483C>A - 79+5G>T - CHM_000007 hemizygous PubMed: van den Hurk 2003 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van den Hurk 2003 - M - - - - 0 - - 1 David Baux
+/+ 1i c.49+5G>T pathogenic r.spl? p.? - Unknown g.85302483C>A - 79+5G>T - CHM_000007 hemizygous PubMed: Aleman TS 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Aleman TS 2017 - - - - - - 0 - - 1 David Baux
?/. - c.50-214del VUS r.(?) p.(=) - Unknown g.85282775del g.86027771del - - CHM_000464 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/+ 1i c.50-1G>C pathogenic r.spl p.? - Maternal (inferred) g.85282562C>G - 80-1G>C - CHM_000008 hemizygous PubMed: Fujiki 1999 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Fujiki 1999 - M - Japan - - 0 - - 1 David Baux
+/+ 1i c.50-1G>C pathogenic r.spl p.? - Unknown g.85282562C>G - 80-1G>C - CHM_000008 hemizygous PubMed: Fujiki 1999 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Fujiki 1999 - M - Japan - - 0 - - 1 David Baux
?/. - c.50G>C VUS r.(?) p.(Gly17Ala) - Unknown g.85282561C>G - CHM(NM_000390):c.50G>C (p.(Gly17Ala)) - CHM_000503 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.(49+1_50-1)_(116+1_117-1)del pathogenic r.(?) p.(?) - Maternal (inferred) g.(85236814_85282494)_(85282562_85302487)del - 80-?_146+?del - CHM_000391 hemizygous PubMed: Sanchez-Alcudia R 2016 - - Germline - - - 0 - DNA arrayCGH - - CHM - PubMed: Sanchez-Alcudia R 2016 - M - Spain - - 0 - - 1 David Baux
+/+ 1i_3 c.(49+1_50-1)_(189+1_190-1)del pathogenic r.50_189del p.Gly17Aspfs*10 - Maternal (confirmed) g.(85233896_85236740)_(85282562_85302487)del - 80-?_219+?del - CHM_000115 hemizygous; REP1 mRNA lacks exons 2 and 3 PubMed: Esposito 2011 - - Germline - - - 0 - DNA, RNA, protein PTT, RT-PCR, SEQ - - CHM - PubMed: Esposito 2011 - M - Italy - - 0 - - 1 Francesco Salvatore
+/+ 1i_4i c.(49+1_50-1)_(314+1_315-1)del pathogenic r.? p.? - Maternal (confirmed) g.(85219058_85233770)_(85282562_85302487)del - 80-?_334+?del - CHM_000267 hemizygous PubMed: Freund 2016 - - Germline - - - 0 - DNA PCR - - CHM - PubMed: Freund 2016 - M - - - - 0 - - 1 David Baux
+/+ 1i_4i c.(49+1_50-1)_(314+1_315-1)del pathogenic r.? p.? - Unknown g.(85219058_85233770)_(85282562_85302487)del - 80-?_334+?del - CHM_000267 hemizygous PubMed: Aleman TS 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Aleman TS 2017 - - - - - - 0 - - 1 David Baux
+/+ 2 c.82del pathogenic r.82del p.(Ser28Glnfs*32) - Maternal (inferred) g.85282529del - 112del - CHM_000394 hemizygous PubMed: Cideciyan AV 2015 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Cideciyan AV 2015 - - - - - - 0 - - 1 David Baux
+/. - c.82del pathogenic r.(?) p.(Ser28Glnfs*32) - Maternal (inferred) g.85282529del - 82delT - CHM_000394 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
+?/+? 2 c.104T>C likely pathogenic r.104U>C p.(Leu35Pro) - Maternal (inferred) g.85282507A>G - 134T>C - CHM_000313 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Ramsden SC 2013 - M - United Kingdom (Great Britain) - - 0 - - 1 David Baux
+?/+? 2 c.104T>C likely pathogenic r.104U>C p.(Leu35Pro) - Unknown g.85282507A>G - 134T>C - CHM_000313 hemizygous PubMed: Simunovic MP 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Simunovic MP 2017 - - - - - - 0 - - 1 David Baux
+/+ 2 c.116C>A pathogenic r.116C>A p.(Ser39*) - Maternal (inferred) g.85282495G>T - 146C>A - CHM_000387 hemizygous PubMed: Sanchez-Alcudia R 2016 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Sanchez-Alcudia R 2016 - M - Spain - - 0 - - 1 David Baux
+/. - c.116C>A pathogenic r.(?) p.(Ser39*) - Unknown g.85282495G>T - CHM(NM_000390.2):c.116C>A (p.S39*) - CHM_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.116+1G>A pathogenic r.spl? p.? - Unknown g.85282494C>T - CHM(NM_000390.2):c.116+1G>A (p.?) - CHM_000448 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2i c.116+1G>A pathogenic r.spl p.? - Maternal (inferred) g.85282494C>T - 146+1G>A - CHM_000009 hemizygous PubMed: Fujiki 1999 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Fujiki 1999 - M - Japan - - 0 - - 1 David Baux
+/+ 2i c.116+1G>A pathogenic r.spl p.? - Maternal (inferred) g.85282494C>T - 146+1G>A - CHM_000009 hemizygous PubMed: Mc Taggart 2002 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Mc Taggart 2002 - M - - - - 0 - - 1 David Baux
+/+ 2i c.116+1G>A pathogenic r.spl p.? - Maternal (inferred) g.85282494C>T - 146+1G>A - CHM_000009 hemizygous PubMed: van den Hurk 2003 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: van den Hurk 2003 - M - - - - 0 - - 1 David Baux
+/+ 2i c.116+1G>A pathogenic r.spl p.? - Unknown g.85282494C>T - 146+1G>A - CHM_000009 hemizygous PubMed: Aleman TS 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Aleman TS 2017 - - - - - - 0 - - 1 David Baux
+/. - c.116+1G>A pathogenic r.spl p.(Gly17Glufs) - Maternal (inferred) g.85282494C>T - - - CHM_000009 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
+/+ 2i c.116+1G>C pathogenic r.spl p.? - Maternal (inferred) g.85282494C>G - 146+1G>C - CHM_000353 hemizygous PubMed: Freund 2016 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Freund 2016 - M - - - - 0 - - 1 David Baux
+/. - c.116+1G>C pathogenic r.spl p.(Gly17Glufs) - Maternal (inferred) g.85282494C>G - - - CHM_000353 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
+/+ 2i c.116+1G>T pathogenic r.50_116del p.Gly17Glufs*21 - Maternal (confirmed) g.85282494C>A - 146+1G>T - CHM_000114 hemizygous; Aberrant splicing that causes exon 2 skipping at mRNA level PubMed: Esposito 2011 - - Germline - - +AflII;+SmlI;+MseI; 0 - DNA, RNA, protein PTT, RT-PCR, SEQ - - CHM - PubMed: Esposito 2011 - M - Italy - - 0 - - 1 Francesco Salvatore
+/. - c.116+1G>T pathogenic r.116_117del p.? - Maternal (inferred) g.85282494C>A - - - CHM_000114 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
+/. - c.116+2T>C pathogenic r.spl? p.? - Unknown g.85282493A>G - CHM(NM_000390.2):c.116+2T>C - CHM_000502 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116+80C>T VUS r.(?) p.(=) - Maternal (inferred) g.85282415G>A g.86027411G>A - - CHM_000461 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.116+80C>T VUS r.(?) p.(=) - Maternal (inferred) g.85282415G>A g.86027411G>A - - CHM_000461 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.116+80C>T VUS r.(?) p.(=) - Unknown g.85282415G>A - - - CHM_000161 - 1015148 - - Germline - - - 0 - DNA SEQ - - ? - 1015148 eyeGENE participant M - United States - - 0 - - 1 Kerry Goetz
?/. - c.116+80C>T VUS r.(?) p.(=) - Unknown g.85282415G>A - - - CHM_000161 - 1015148 - - Germline - - - 0 - DNA SEQ - - CHM - - and HM+C.46, N7+C.34, NE+W.26, NE+W.41, QU+U.10, eyeGENE participants M - United States - - 0 - - 6 Kerry Goetz
?/. - c.116+80C>T VUS r.(?) p.(=) - Unknown g.85282415G>A - - - CHM_000161 - - - - Germline - - - 0 - DNA SEQ - - BCD - - eyeGENE participant F - United States - - 0 - - 1 Kerry Goetz
?/. - c.116+80C>T VUS r.(?) p.(=) - Unknown g.85282415G>A - - - CHM_000161 - - - - Germline - - - 0 - DNA SEQ - - ? - - eyeGENE participant F - United States - - 0 - - 1 Kerry Goetz
?/. - c.116+80C>T VUS r.(?) p.(=) - Unknown g.85282415G>A - - - CHM_000161 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE participant F - United States - - 0 - - 1 Kerry Goetz
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.(=) - Maternal (inferred) g.85282279_85282280insAAAGG g.86027275_86027276insAAAGG - - CHM_000465 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.(=) - Maternal (inferred) g.85282279_85282280insAAAGG g.86027275_86027276insAAAGG - - CHM_000465 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.? - Unknown g.85282279_85282280insAAAGG - 116+215_216insCCTTT - CHM_000160 - 3078127 - - Germline - - - 0 - DNA SEQ - - CHM - 3078127 eyeGENE participant M - United States - - 0 - - 1 Kerry Goetz
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.? - Unknown g.85282279_85282280insAAAGG - 116+215insCCTTT - CHM_000160 - 3078127 - - Germline - - - 0 - DNA SEQ - - BCD - 3078127 eyeGENE participant M - United States - - 0 - - 1 Kerry Goetz
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.? - Unknown g.85282279_85282280insAAAGG - 116+215insCCTTT - CHM_000160 - 3078127 - - Germline - - - 0 - DNA SEQ - - ? - 3078127 eyeGENE participant M - United States - - 0 - - 1 Kerry Goetz
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.? - Unknown g.85282279_85282280insAAAGG - 116+215insCCTTT - CHM_000160 - 3078127 - - Germline - - - 0 - DNA SEQ - - CHM - 3078127 and 7F+U.15, N7+C.34, NE+W.26, NE+W.41, QU+U.10, QX+X.2; eyeGENE participants M - United States - - 0 - - 7 Kerry Goetz
-/. - c.117-23_117-12dup benign r.(=) p.(=) - Unknown g.85236829_85236840dup - CHM(NM_000390.2):c.117-14_117-13insTTTTTTTTTTTT - CHM_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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