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.

825 entries on 9 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)     

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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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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(116+1_117-1)_(*3450_?)del r.spl p.(?) - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion exon 3-15 - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 219 PubMed: Weisschuh 2020 Filing key number: 77, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.(1770+1_1771-1)_(*3450_?)del r.spl p.(?) - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion exon 15 - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 273 PubMed: Weisschuh 2020 Filing key number: 92, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. _1_15_ c.(?_-33)_(*3450_?)del r.0? p.0? - Unknown - likely pathogenic g.? g.? CHM Deletion Exons 1-15, putative loss of function - USP9X_000005 heterozygous PubMed: Gliem 2020 - - Unknown ? - - 0 - DNA SEQ-NG-I blood whole exome sequencing retinal disease 116 PubMed: Gliem 2020 - F - (Germany) - - 0 - - 1 LOVD
+/. - c.? r.0 p.0 - Unknown ACMG pathogenic g.? - Whole gene deletion - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - 0 - - 2 Global Variome, with Curator vacancy
+/. - c.? r.? p.(Ala48_Glu113del) - Unknown ACMG pathogenic g.? - NM_000390.4:c.143_340del (Ala48_Glu113del) - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.? r.? p.(Asp244Ilefs*2) - Unknown ACMG pathogenic g.? - NM_000390.4:c.729_966del (Asp244Ilefs*2) - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.? r.0? p.0? - Unknown - likely pathogenic g.? - del ex1-2 - USP9X_000005 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 935 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. - c.? r.0? p.0? - Unknown - likely pathogenic g.? - del entire gene - USP9X_000005 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 937 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. - c.? r.0? p.0? - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion entire gene - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 254 PubMed: Weisschuh 2020 Filing key number: 86, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.? r.0? p.0? - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion entire gene - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - 0 - DNA MLPA blood MLPA retinal disease 261 PubMed: Weisschuh 2020 Filing key number: 88, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.? r.0? p.0? - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion entire gene - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - 0 - DNA SEQ blood Sanger sequencing retinal disease 262 PubMed: Weisschuh 2020 Filing key number: 88, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.? r.0? p.0? - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion entire gene - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA MLPA blood MLPA retinal disease 285 PubMed: Weisschuh 2020 Filing key number: 94, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.? r.0? p.0? - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion entire gene - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 286 PubMed: Weisschuh 2020 Filing key number: 94, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.? r.0? p.0? - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion entire gene - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 326 PubMed: Weisschuh 2020 Filing key number: 106, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+/+ _1_1i c.-30_49+9142{0} r.0? p.0? - Unknown - pathogenic g.85293348_85304546del g.86038344_86049542del 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 - r.0? p.0? - Unknown - likely pathogenic g.85302644T>C g.86047640T>C c.-108A>G - CHM_000451 Alteration of transcription observed in a luciferase reporter assay PubMed: Vaché 2019 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG-I - - CHM CHM10 PubMed: Vaché 2019 - M no France - - 0 - - 1 David Baux
+/? _1 - r.(?) p.(?) - Maternal (inferred) - pathogenic g.85302634G>T g.86047630G>T -68C>A/c.-98C>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 - r.(?) p.(?) - Maternal (confirmed) - pathogenic g.85302634G>A g.86047630G>A -68C>T/c.-98C>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 - r.0? p.0? - Unknown ACMG pathogenic g.85302626G>C g.86047622G>C c.-90C>G - CHM_000450 No transcript observed in patient's fibroblasts culture PubMed: Vaché 2019 - - Germline/De novo (untested) - - - 0 - DNA RT-PCR, SEQ, Western - - CHM CHM9 PubMed: Vaché 2019 - M no France - - 0 - - 1 David Baux
+/+ _1_1i c.-30_(49+1_50-1){0} r.0 p.0 - Maternal (inferred) - pathogenic g.(85282562_85302487)_(85302566_?)del g.(86027558_86047483)_(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){0} r.0 p.0 - Maternal (inferred) - pathogenic g.(85282562_85302487)_(85302566_?)del g.(86027558_86047483)_(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){0} r.0 p.0 - Unknown - pathogenic g.(85282562_85302487)_(85302566_?)del g.(86027558_86047483)_(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){0} r.0 p.0 - Unknown - VUS g.(85282562_85302487)_(85302566_?)del g.(86027558_86047483)_(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){0} r.0 p.0 - Maternal (inferred) - pathogenic g.(85282562_85302487)_(85302566_?)del g.(86027558_86047483)_(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){0} r.0 p.0 - Maternal (inferred) - pathogenic g.(85282562_85302487)_(85302566_?)del g.(86027558_86047483)_(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)dup;c.1167-?_1510+?dup r.0 p.0 - Maternal (inferred) - pathogenic 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_2i c.-30_(116+1_117-1){0} r.0 p.0 - Maternal (inferred) - pathogenic g.(85236814_85282494)_(85302566_?)del g.(85981810_86027490)_(86047562_?)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_8i c.-30_(1166+1_1167-1){0} r.0 p.0 - Maternal (inferred) - pathogenic g.(85166344_85211157)_(85302566_?)del g.(85911339_85956152)_(86047562_?)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){0} r.0 p.0 - Maternal (inferred) - pathogenic g.(85166344_85211157)_(85302566_?)del g.(85911339_85956152)_(86047562_?)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){0} r.0 p.0 - Maternal (inferred) - pathogenic g.(85149290_85155650)_(85302566_?)del g.(85894285_85900645)_(86047562_?)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){0} r.0 p.0 - Unknown - pathogenic g.(85134069_85149192)_(85302566_?)del g.(85879064_85894187)_(86047562_?)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){0} r.0 p.0 - Maternal (inferred) - pathogenic g.(85128218_85133969)_(85302566_?)del g.(85873213_85878964)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (confirmed) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (confirmed) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (confirmed) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)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
+?/. - c.(?_-27)_(49+1_50-1)del r.spl p.(?) - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion exon 1 - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - 0 - DNA MLPA blood MLPA retinal disease 152 PubMed: Weisschuh 2020 Filing key number: 64, choroideremia, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+?/. - c.(?_-27)_(49+1_50-1)del r.spl p.(?) - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion exon 1 - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - 0 - DNA SEQ blood Sanger sequencing retinal disease 153 PubMed: Weisschuh 2020 Filing key number: 64, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.(?_-27)_(49+1_50-1)del r.spl p.(?) - Parent #1 - likely pathogenic g.? g.? CHM, variant 1 :Deletion exon 1 - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - 0 - DNA MLPA blood MLPA retinal disease 154 PubMed: Weisschuh 2020 Filing key number: 64, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+/. 2i_15_ c.(116+1_117-1)_*3450{0} r.? p.0 - Parent #1 - pathogenic (dominant) g.(?_85116185)_(85236814_85282494)del - c.117-?_1962+? POF1Bdel max 0.9 Mb - CHM_000104 - PubMed: Zeitz 2021 - - Germline - - - 0 - DNA MLPA, SEQ - - CHM Fam6157PatCIC010639 Zeitz 2021, submitted - - - France - - 0 - - 1 Christina Zeitz
+/. 14i_15_ c.(1770+1_1771-1)_*3450{0} r.? p.(Ala591_Glu653delins13) - Parent #1 - pathogenic (dominant) g.(?_85116185)_(85119827_85128056)del - c.1771-?_1962+?, max 0.06 Mb - CHM_000268 deletion most likely similar to (Sun 2016) PubMed: Zeitz 2021 - - Germline - - - 0 - DNA MLPA, SEQ - - CHM Fam4661PatCIC08304 Zeitz 2021, submitted - - - France - - 0 - - 1 Christina Zeitz
+/. 14i_15_ c.(1770+1_1771-1)_*3450{0} r.? p.(Ala591_Glu653delins13) - Parent #1 - pathogenic (dominant) g.(?_85116185)_(85119827_85128056)del - c.1771-?_1962+?, max 0.06 Mb - CHM_000268 - PubMed: Zeitz 2021 - - Germline - - - 0 - DNA MLPA, SEQ - - CHM Fam6456PatCIC11197 Zeitz 2021, submitted - - - France - - 0 - - 1 Christina Zeitz
+/. 6i_15_ c.(819+1_820-1)_*3450{0} r.? p.(Val274_Glu653delins13) - Parent #1 - pathogenic (dominant) g.(?_85116185)_(85212981_85213865)del - c.820- ?_1962+?, max 0.3 Mb - CHM_000514 - PubMed: Zeitz 2021 - - Germline - - - 0 - DNA MLPA, SEQ - - CHM Fam4768PatCIC08451 Zeitz 2021, submitted - - - France - - 0 - - 1 Christina Zeitz
+/. _1_15_ c.-30_*3450{0} r.0 p.0 - Parent #1 - pathogenic (dominant) g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del max 4.1Mb deletion CHM, DACH2, KLHL4, and CPXCR1del - CHM_000099 - PubMed: Zeitz 2021 - - Germline - - - 0 - DNA MLPA, SEQ - - CHM Fam4474PatCIC08017 Zeitz 2021, submitted - - - France - - 0 - - 1 Christina Zeitz
+/. _1_15_ c.-30_*3450{0} r.0 p.0 - Parent #1 - pathogenic (dominant) g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del max 3.3Mb deletion CHM, DACH2 and KLHL4 - CHM_000099 - PubMed: Zeitz 2021 - - Germline - - - 0 - DNA MLPA, SEQ - - CHM Fam214PatCIC00313 Zeitz 2021, submitted - - - France - - 0 - - 1 Christina Zeitz
+?/. _1_8i c.-30_1166+8052{0} r.0? p.0? - Unknown - likely pathogenic g.85203106_85546828del - del ex1-8, chrX:85203106-85546828del - CHM_000538 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 936 PubMed: Stone 2017 family, 2 affected M - (United States) - - 0 - - 2 LOVD
+/. 1 c.-30_49+187{0} r.0? p.0? - Maternal (inferred) ACMG pathogenic g.85302304_85304319del g.86047300_86049315del c.-1780_49+187del - CHM_000550 ACMG PVS1, PS4_Supporting (based on a similar whole exon 1 deletion [PMID:19597113]), PM2_Supporting, PP1 (based on a similar whole exon 1 deletion [PMID:19597113]) - - - Germline - - - 0 - DNA SEQ-NG-I Peripheral blood - retinal disease IM20-0021 - - M - Spain White >14y - - - 1 Juan Cadiñanos
+/. _1_2i c.-30_(189+1_190-1){0} r.? p.? - Unknown ACMG pathogenic g.(85233896_85236740)_(85302566_?)del - c.1_188del - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.2T>A r.(?) p.(Met1?) - Unknown ACMG VUS g.85302535A>T g.86047531A>T CHM c.2T>A, p.(Met1?) - CHM_000584 hemizygous PubMed: Kim 2021 - - Unknown ? - - 0 - DNA SEQ-NG - - retinal disease 193-261 PubMed: Kim 2021 - ? - Korea, South (Republic) - - 0 - - 1 LOVD
+?/+ 1 c.3G>A r.3g>a p.0? - Maternal (inferred) ACMG likely pathogenic g.85302534C>T g.86047530C>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
+/. 1 c.3G>A r.(?) p.0? - Maternal (inferred) - pathogenic g.85302534C>T g.86047530C>T Met1? - CHM_000128 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
+?/. - c.3G>A r.(?) p.(Met1?) - Unknown ACMG likely pathogenic g.85302534C>T g.86047530C>T CHM c.3G>A, p.(Met1?) - CHM_000128 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 80 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - 1 LOVD
-?/. 1 c.8A>G r.(?) p.(Asp3Gly) - Unknown - likely benign g.85302529T>C g.86047525T>C CHM(NM_000390.2):c.8A>G (p.D3G) - CHM_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.16_17dup r.16_17dup p.(Ser7Leufs*6) - Maternal (inferred) - pathogenic g.85302521_85302522dup g.86047517_86047518dup 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 r.(?) p.(Pro6Leufs*6) - Maternal (inferred) - pathogenic g.85302522del g.86047518del 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 r.20c>a p.(Ser7*) - Maternal (inferred) - pathogenic g.85302517G>T g.86047513G>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
+?/. - c.22G>T r.(?) p.(Glu8*) - Parent #1 - likely pathogenic g.85302515C>A g.86047511C>A CHM, variant 1: c.22G>T/p.E8* - CHM_000572 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 319 PubMed: Weisschuh 2020 Filing key number: 105, choroideremia, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+?/. - c.22G>T r.(?) p.(Glu8*) - Parent #1 - likely pathogenic g.85302515C>A g.86047511C>A CHM, variant 1: c.22G>T/p.E8* - CHM_000572 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 320 PubMed: Weisschuh 2020 Filing key number: 105, choroideremia, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+?/. - c.22G>T r.(?) p.(Glu8*) - Parent #1 - likely pathogenic g.85302515C>A g.86047511C>A CHM, variant 1: c.22G>T/p.E8* - CHM_000572 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 321 PubMed: Weisschuh 2020 Filing key number: 105, choroideremia, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+?/. - c.22G>T r.(?) p.(Glu8*) - Parent #1 - likely pathogenic g.85302515C>A g.86047511C>A CHM, variant 1: c.22G>T/p.E8* - CHM_000572 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ blood Sanger sequencing retinal disease 322 PubMed: Weisschuh 2020 Filing key number: 105, choroideremia, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.22_33del r.(?) p.(Glu8_Val11del) - Unknown - likely pathogenic g.85302505_85302516del g.86047501_86047512del 21_32delGGAGTTTGATGT - CHM_000543 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 942 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+/+ 1 c.25_28delinsAGTAATAGTAA r.25_28deluuuginsaguaauaguaa p.Phe9Serfs*14 - Maternal (inferred) - pathogenic g.85302509_85302512delinsTTACTATTACT g.86047505_86047508delinsTTACTATTACT 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 r.25_28deluuuginsaguaauaguaa p.Phe9Serfs*14 - Unknown - pathogenic g.85302509_85302512delinsTTACTATTACT g.86047505_86047508delinsTTACTATTACT 55_58delTTTGinsAGTAATAGTAA - CHM_000282 hemizygous PubMed: Aleman TS 2017 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Aleman TS 2017 - - - - - - 0 - - 1 David Baux
+/. 1 c.25_28delinsAGTAATAGTAA r.(?) p.(Phe9Serfs*14) - Maternal (inferred) - pathogenic g.85302509_85302512delinsTTACTATTACT g.86047505_86047508delinsTTACTATTACT 25_28del4ins12 - CHM_000282 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
+/. 1 c.36del r.(?) p.(Ile12Metfs*2) - Parent #1 - pathogenic (dominant) g.85302501del g.86047497del - - CHM_000135 - PubMed: Zeitz 2021 - - Germline - - - 0 - DNA SEQ - - CHM Fam929PatCIC01910 Zeitz 2021, submitted - - - France - - 0 - - 1 Christina Zeitz
+/+ 1 c.37del r.37del p.(Val13*) - Maternal (inferred) - pathogenic g.85302500del g.86047496del 67del - CHM_000351 hemizygous PubMed: Freund 2016 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Freund 2016 - M - - - - 0 - - 1 David Baux
+/. 1 c.37del r.(?) p.(Val13*) - Maternal (inferred) - pathogenic g.85302500del g.86047496del 37delG - CHM_000351 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant F - United States - - 0 - - 1 Kerry Goetz
+/+ 1 c.49G>T r.(?) p.(?) - Maternal (inferred) - pathogenic g.85302488C>A g.86047484C>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 r.spl p.? - Maternal (inferred) - pathogenic g.85302487C>T g.86047483C>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
+/. 1i c.49+1G>C r.spl p.? - Unknown - pathogenic g.85302487C>G g.86047483C>G - - CHM_000487 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE participant F - United States - - 0 - - 1 Kerry Goetz
+/. 1i c.49+1G>C r.spl p.? - Unknown - pathogenic g.85302487C>G g.86047483C>G - - CHM_000487 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE participant M - United States - - 0 - - 1 Kerry Goetz
+?/. - c.49+1G>T r.spl p.? - Unknown - likely pathogenic g.85302487C>A g.86047483C>A IVS1+1 G>T - CHM_000542 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 939 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+/. - c.49+1G>T r.spl p.(?) - Unknown - pathogenic g.85302487C>A g.86047483C>A c.49+1C>A, p.? - CHM_000542 error in annotation: c.49+1C>A instead of G>T, hemizygous PubMed: Wang 2019 - - Germline ? - - 0 - DNA SEQ-NG blood panel of 126 genes retinal disease 14563 PubMed: Wang 2019 - M - China - - 0 - - 1 LOVD
+/+ 1i c.49+2dup r.spl p.? - Maternal (inferred) - pathogenic g.85302486dup g.86047482dup 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
+/. 1i c.49+2dup r.spl? p.? - Unknown - pathogenic g.85302486dup g.86047482dup 49+2dupT - CHM_000311 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE participant M - United States - - 0 - - 1 Kerry Goetz
+/. - c.49+2dup r.spl p.? - Unknown - pathogenic g.85302486dup g.86047482dup IVS1+2dupT - CHM_000311 - PubMed: Wang 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD6–08 PubMed: Wang 2017 - - - United States - - 0 - - 1 LOVD
+/+ 1i c.49+3A>G r.spl? p.? - Maternal (inferred) - pathogenic g.85302485T>C g.86047481T>C 79+3A>G - CHM_000352 hemizygous PubMed: Freund 2016 - - Germline - - - 0 - DNA SEQ - - CHM - PubMed: Freund 2016 - M - - - - 0 - - 1 David Baux
+/. 1i c.49+3A>G r.spl? p.? - Maternal (inferred) - pathogenic g.85302485T>C g.86047481T>C - - CHM_000352 - - - - Germline - - - 0 - DNA SEQ - - CHM - - eyeGENE Participant M - United States - - 0 - - 1 Kerry Goetz
+/. 1i c.49+3A>G r.spl p.? - Parent #1 - pathogenic (dominant) g.85302485T>C g.86047481T>C - - CHM_000352 - Zeitz 2021, submitted - - Germline - - - 0 - DNA SEQ - - CHM Fam1266PatCIC03092 Zeitz 2021, submitted - - - France - - 0 - - 1 Christina Zeitz
+/. 1i c.49+3A>G r.spl p.? - Parent #1 - pathogenic (dominant) g.85302485T>C g.86047481T>C - - CHM_000352 - Zeitz 2021, submitted - - Germline - - - 0 - DNA SEQ - - CHM Fam2518PatCIC04982 Zeitz 2021, submitted - - - France - - 0 - - 1 Christina Zeitz
+?/. - c.49+3A>G r.spl p.? - Unknown - likely pathogenic g.85302485T>C g.86047481T>C - - CHM_000352 - PubMed: Ellingford 2016 - - Germline - - - 0 - DNA SEQ - 105-gene panel retinal disease 12010854 PubMed: Ellingford 2016 patient - - - - - 0 - - 1 LOVD
+/+ 1i c.49+3del r.spl? p.? - Maternal (inferred) - pathogenic g.85302485del g.86047481del 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 r.spl? p.? - Unknown - pathogenic g.85302478_85302485delinsAAGC g.86047474_86047481delinsAAGC 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 r.spl? p.? - Maternal (inferred) - pathogenic g.85302483C>A g.86047479C>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
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