Unique variants in 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.

347 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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     

Owner     
+/+ 1 _1_1i c.-2008_49+9142del pathogenic r.0? p.0? - g.85293346_85304544del - 1-2010_49+9140del - CHM_000112 hemizygous PubMed: van den Hurk 2003 - - Germline - - - - - David Baux
+?/+? 1 1 c.-108A>G likely pathogenic r.(=) p.(=) - 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) - - - - - David Baux
+/? 1 1 c.-98C>A pathogenic r.(?) p.(?) - g.85302634G>T - -68C>A - CHM_000279 hemizygous; The variant was shown to abrogate gene expression in a promoter assay. PubMed: Radziwon 2017 - - Germline - - - - - David Baux
+/+ 1 1 c.-98C>T pathogenic r.(?) p.(?) - g.85302634G>A - -68C>T - CHM_000280 hemizygous; The variant was shown to abrogate gene expression in a promoter assay. PubMed: Radziwon 2017 - - Germline - - - - - David Baux
+/+ 1 1 c.-90C>G ACMG: 5 r.(=) p.(=) - 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) - - - - - David Baux
+/+, ?/? 6 _1_1i c.(?_-30)_(49+1_50-1)del pathogenic, VUS r.0 p.0 - g.(85282562_85302487)_(85302566_?)del - 1-?_79+?del - CHM_000095 hemizygous; REP-1 not detected, heterozygous, hemizygous PubMed: Mc Taggart 2002, PubMed: Yau 2007, PubMed: Aleman TS 2017, PubMed: van den Hurk 1997 - - Germline - - - - - David Baux
+/+ 1 _1_2i c.(?_-30)_(116+1_117-1)del pathogenic r.0 p.0 - g.(85236814_85282494)_(85302566_?)del - 1-?_146+?del - CHM_000096 hemizygous PubMed: van den Hurk 1997 - - Germline - - - - - David Baux
+/+ 1 _1_2i c.(?_-30)_(116+1_117-1)dup;c.1167-?_1510+?dup pathogenic r.0 p.0 - g.? - 1-?_146+?dup;1197-?_1540+?dup - CHM_000350 hemizygous; Noncontiguous duplication of exons 1-2 and 9-12 PubMed: Edwards TL 2017 - - Germline - - - - - David Baux
+/+ 2 _1_8i c.(?_-30)_(1166+1_1167-1)del pathogenic r.0 p.0 - g.(85166344_85211157)_(85302566_?)del - 1-?_1196+?del - CHM_000097 hemizygous, DXS110-DXS540 del PubMed: van Bokhoven 1994 - - Germline - - - - - David Baux
+/+ 1 _1_11i c.(?_-30)_(1413+1_1414-1)del pathogenic r.0 p.0 - g.(85149290_85155650)_(85302566_?)del - 1-?_1443+?del - CHM_000286 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+ 1 _1_12i c.(?_-30)_(1510+1_1511-1)del pathogenic r.0 p.0 - g.(85134069_85149192)_(85302566_?)del - 1-?_1630+?del - CHM_000245 hemizygous PubMed: Dimopoulos IS 2016 - - Germline - - - - - alina radziwon
+/+ 1 _1_13i c.(?_-30)_(1609+1_1610-1)del pathogenic r.0 p.0 - g.(85128218_85133969)_(85302566_?)del - 1-?_1639+?del - CHM_000098 hemizygous PubMed: Fujiki 1999 - - Germline - - - - - David Baux
+/+ 20 _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 - g.(?_85116185)_(85302566_?)del - 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion, hemizygous; total gene deletion from DXS110-pJ7.6A del., 6 more items PubMed: Mc Taggart 2002, PubMed: Garcia-Hoyos 2008, PubMed: Poloschek 2008, PubMed: Strunnikova 2009, 8 more items - - Germline - - - - - David Baux, Anne-Françoise Roux
+?/+, +/. 2 1 c.3G>A ACMG: 4, pathogenic r.3g>a, r.(?) p.0? - g.85302534C>T - 33G>A, Met1? - CHM_000128 hemizygous PubMed: Strunnikova 2009 - - Germline - - -BccI;-EciI; - - Anne-Françoise Roux, Kerry Goetz
-?/. 1 - c.8A>G likely benign r.(?) p.(Asp3Gly) - g.85302529T>C - CHM(NM_000390.2):c.8A>G (p.D3G) - CHM_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 1 c.16_17dup pathogenic r.16_17dup p.(Ser7Leufs*6) - g.85302520_85302521dup - 46_47dupCC - CHM_000307 hemizygous PubMed: Dysli C 2016 - - Germline - - - - - David Baux
+/+ 1 1 c.17del pathogenic r.(?) p.(Pro6Leufs*6) - g.85302520del - 47delC - CHM_000005 hemizygous; REP-1 not detected PubMed: Mc Taggart 2002 - - Germline - - - - - David Baux
+/+ 1 1 c.20C>A pathogenic r.20C>A p.(Ser7*) - g.85302517G>T - 50C>A - CHM_000310 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+, +/. 3 1 c.25_28delinsAGTAATAGTAA pathogenic r.25_28delUUUGinsAGUAAUAGUAA, r.(?) p.Phe9Serfs*14, p.(Phe9Serfs*14) - g.85302509_85302512delinsTTACTATTACT - 55_58delTTTGinsAGTAATAGTAA, 25_28del4ins12 - CHM_000282 hemizygous PubMed: Freund 2016, PubMed: Aleman TS 2017 - - Germline - - - - - David Baux, Kerry Goetz
+/+, +/. 2 1 c.37del pathogenic r.37del, r.(?) p.(Val13*) - g.85302500del - 67del, 37delG - CHM_000351 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux, Kerry Goetz
+/+ 1 1 c.49G>T pathogenic r.(?) p.(?) - g.85302488C>A - 79G>T - CHM_000390 hemizygous; Likely affects splicing PubMed: Sanchez-Alcudia R 2016 - - Germline - - - - - David Baux
+/+ 1 1i c.49+1G>A pathogenic r.spl p.? - g.85302487C>T - 79+1G>A - CHM_000006 hemizygous PubMed: Mc Taggart 2002 - - Germline - - - - - David Baux
+/. 2 - c.49+1G>C pathogenic r.spl p.? - g.85302487C>G - - - CHM_000487 - - - - Germline - - - - - Kerry Goetz
+/+, +/. 2 1i c.49+2dup pathogenic r.spl, r.spl? p.? - g.85302486dup - 79+2dupT, 49+2dupT - CHM_000311 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux, Kerry Goetz
+/+, +/. 2 1i c.49+3A>G pathogenic r.spl? p.? - g.85302485T>C - 79+3A>G - CHM_000352 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux, Kerry Goetz
+/+ 1 1i c.49+3del pathogenic r.spl? p.? - g.85302485del - 79+3del - CHM_000406 hemizygous PubMed: Edwards TL 2015 - - Germline - - - - - David Baux
+/+ 1 1i c.49+3_49+10delinsGCTT pathogenic r.spl? p.? - g.85302478_85302485delinsAAGC - 79+3_79+10delinsGCTT - CHM_000312 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+ 2 1i c.49+5G>T pathogenic r.spl? p.? - g.85302483C>A - 79+5G>T - CHM_000007 hemizygous PubMed: van den Hurk 2003, PubMed: Aleman TS 2017 - - Germline - - - - - David Baux
?/. 1 - c.50-214del VUS r.(?) p.(=) - g.85282775del g.86027771del - - CHM_000464 - - - - Germline - - - - - Yu Sun
+/+ 2 1i c.50-1G>C pathogenic r.spl p.? - g.85282562C>G - 80-1G>C - CHM_000008 hemizygous PubMed: Fujiki 1999 - - Germline - - - - - David Baux
?/. 1 - c.50G>C VUS r.(?) p.(Gly17Ala) - g.85282561C>G - CHM(NM_000390):c.50G>C (p.(Gly17Ala)) - CHM_000503 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 1i c.(49+1_50-1)_(116+1_117-1)del pathogenic r.(?) p.(?) - g.(85236814_85282494)_(85282562_85302487)del - 80-?_146+?del - CHM_000391 hemizygous PubMed: Sanchez-Alcudia R 2016 - - Germline - - - - - David Baux
+/+ 1 1i_3 c.(49+1_50-1)_(189+1_190-1)del pathogenic r.50_189del p.Gly17Aspfs*10 - g.(85233896_85236740)_(85282562_85302487)del - 80-?_219+?del - CHM_000115 hemizygous; REP1 mRNA lacks exons 2 and 3 PubMed: Esposito 2011 - - Germline - - - - - Francesco Salvatore
+/+ 2 1i_4i c.(49+1_50-1)_(314+1_315-1)del pathogenic r.? p.? - g.(85219058_85233770)_(85282562_85302487)del - 80-?_334+?del - CHM_000267 hemizygous PubMed: Freund 2016, PubMed: Aleman TS 2017 - - Germline - - - - - David Baux
+/+, +/. 2 2 c.82del pathogenic r.82del, r.(?) p.(Ser28Glnfs*32) - g.85282529del - 112del, 82delT - CHM_000394 hemizygous PubMed: Cideciyan AV 2015 - - Germline - - - - - David Baux, Kerry Goetz
+?/+? 2 2 c.104T>C likely pathogenic r.104U>C p.(Leu35Pro) - g.85282507A>G - 134T>C - CHM_000313 hemizygous PubMed: Ramsden SC 2013, PubMed: Simunovic MP 2017 - - Germline - - - - - David Baux
+/+, +/. 2 2 c.116C>A pathogenic r.116C>A, r.(?) p.(Ser39*) - g.85282495G>T - 146C>A, CHM(NM_000390.2):c.116C>A (p.S39*) - CHM_000387 hemizygous, VKGL data sharing initiative Nederland PubMed: Sanchez-Alcudia R 2016 - - Germline, CLASSIFICATION record - - - - - David Baux, VKGL-NL
+/+, +/. 6 2i c.116+1G>A pathogenic r.spl, r.spl? p.?, p.(Gly17Glufs) - g.85282494C>T - 146+1G>A, CHM(NM_000390.2):c.116+1G>A (p.?) - CHM_000009, CHM_000448 hemizygous, VKGL data sharing initiative Nederland PubMed: Fujiki 1999, PubMed: Mc Taggart 2002, PubMed: van den Hurk 2003, PubMed: Aleman TS 2017 - - Germline, CLASSIFICATION record - - - - - David Baux, Kerry Goetz, VKGL-NL
+/+, +/. 2 2i c.116+1G>C pathogenic r.spl p.?, p.(Gly17Glufs) - g.85282494C>G - 146+1G>C - CHM_000353 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux, Kerry Goetz
+/+, +/. 2 2i c.116+1G>T pathogenic r.50_116del, r.116_117del p.Gly17Glufs*21, p.? - 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; - - Francesco Salvatore, Kerry Goetz
+/. 1 - c.116+2T>C pathogenic r.spl? p.? - g.85282493A>G - CHM(NM_000390.2):c.116+2T>C - CHM_000502 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 7 - c.116+80C>T VUS r.(?) p.(=) - g.85282415G>A g.86027411G>A - - CHM_000461, CHM_000161 - 1015148 - - Germline - - - - - Yu Sun, Kerry Goetz
?/. 6 - c.116+215_116+216insCCTTT VUS r.(?) p.(=), p.? - g.85282279_85282280insAAAGG g.86027275_86027276insAAAGG 116+215_216insCCTTT, 116+215insCCTTT - CHM_000465, CHM_000160 - 3078127 - - Germline - - - - - Yu Sun, Kerry Goetz
-/. 1 - c.117-23_117-12dup benign r.(=) p.(=) - g.85236829_85236840dup - CHM(NM_000390.2):c.117-14_117-13insTTTTTTTTTTTT - CHM_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.117-13T>A benign r.(=) p.(=) - g.85236826A>T - CHM(NM_000390.2):c.117-13T>A - CHM_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.117-13_117-12dup benign r.(=) p.(=) - g.85236839_85236840dup - CHM(NM_000390.2):c.117-14_117-13insTT - CHM_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.117-12del benign r.(=) p.(=) - g.85236840del - CHM(NM_000390.2):c.117-13delT - CHM_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.117-12dup benign r.(=) p.(=) - g.85236840dup - CHM(NM_000390.2):c.117-13_117-12insT, CHM(NM_000390.2):c.117-14_117-13insT - CHM_000501 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.117-12T>C benign r.(=) p.(=) - g.85236825A>G - CHM(NM_000390.2):c.117-12T>C - CHM_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.117-7G>T benign, likely benign r.(=) p.(=) - g.85236820C>A - CHM(NM_000390.2):c.117-7G>T (p.(=)) - CHM_000421 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden
+/. 1 - c.117-1G>A pathogenic r.spl p.? - g.85236814C>T - - - CHM_000486 - - - - Germline - - - - - Kerry Goetz
+/+ 1 - c.(116+1_117-1)_314+?del;c.703-?_1510+?del pathogenic r.? p.? - g.? - 147-?_344+?del;733-?_1541+?del - CHM_000264 hemizygous; Non contiguous deletion of exons 3-4 and 6-12 - - - Germline - - - - - alina radziwon
+/+ 1 2i_4i c.(116+1_117-1)_(314+1_315-1)del pathogenic r.? p.? - g.(85219058_85233770)_(85236814_85282494)del - 147-?_344+?del - CHM_000100 hemizygous PubMed: Garcia-Hoyos 2008 - - Germline - - - - - David Baux
+/+ 1 4i_7i c.(116+1_117-1)_(940+1_941-1)del pathogenic r.? p.? - g.(85211384_85212859)_(85236814_85282494)del - 147-?_970+?del - CHM_000272 hemizygous PubMed: Dimopoulos IS 2016 - - Germline - - - - - alina radziwon
+/+ 4 2i_8i c.(116+1_117-1)_(1166+1_1167-1)del pathogenic r.? p.? - g.(85166344_85211157)_(85236814_85282494)del - 147-?_1196+?del - CHM_000101 hemizygous PubMed: Mc Taggart 2002, PubMed: Aleman TS 2017, PubMed: Cremers 1990 - - Germline - - - - - David Baux
+/+ 1 2i_9i c.(116+1_117-1)_(1244+1_1245-1)del pathogenic r.? p.? - g.(85156194_85166265)_(85236814_85282494)del - 147-?_1274+?del - CHM_000102 hemizygous PubMed: Jacobson 2006 - - Germline - - - - - David Baux
+?/? 1 2i_9i c.(116+1_117-1)_(1244+1_1245-1)dup likely pathogenic r.? p.? - g.(85156194_85166265)_(85236814_85282494)dup - 147-?_1274+?dup - CHM_000134 hemizygous PubMed: Chi 2012 - - Germline - - - - - Anne Polvi
+/+ 1 2i_12i c.(116+1_117-1)_(1510+1_1511-1)del pathogenic r.? p.? - g.(85134069_85149192)_(85236814_85282494)del - 147-?_1540+?del - CHM_000103 hemizygous PubMed: Mc Taggart 2002 - - Germline - - - - - David Baux
+/+ 1 2i_15_ c.(116+1_117-1)_(*3450_?)del pathogenic r.? p.? - g.(?_85116185)_(85236814_85282494)del - 147-?_5442+?del - CHM_000104 hemizygous PubMed: van Bokhoven 1994 - - Germline - - - - - David Baux
+/+ 1 3 c.124_133dup pathogenic r.124_133dup p.(Gly45Valfs*10) - g.85236797_85236806dup - 154_163dup - CHM_000395 hemizygous PubMed: Seitz 2015 - - Germline - - - - - David Baux
+/. 1 - c.126C>A pathogenic r.(?) p.(Tyr42*) - g.85236804G>T - - - CHM_000485 - - - - Germline - - - - - Kerry Goetz
+/+ 1 3 c.126C>G pathogenic r.126C>G p.(Tyr42*) - g.85236804G>C - 156C>G - CHM_000314 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+ 1 3 c.130G>T pathogenic r.(?) p.(Gly44*) - g.85236800C>A - 160G>T - CHM_000010 hemizygous; REP-1 not detected PubMed: Mc Taggart 2002 - - Germline - - - - - David Baux
+/+ 1 3 c.140G>A pathogenic r.(?) p.(Trp47*) - g.85236790C>T - 170G>A - CHM_000011 hemizygous PubMed: Fujiki 1999 - - Germline - - +BfaI;-Sau96I - - David Baux
+/+ 1 3 c.141G>A pathogenic r.141G>A p.(Trp47*) - g.85236789C>T - 171G>A - CHM_000388 hemizygous PubMed: Sanchez-Alcudia R 2016 - - Germline - - - - - David Baux
-?/. 1 - c.162A>G likely benign r.(?) p.(=) - g.85236768T>C - CHM(NM_000390.2):c.162A>G (p.G54=) - CHM_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+, +/. 2 3 c.167dup pathogenic r.167dup, r.(?) p.(Leu56Phefs*12) - g.85236763dup - 197dup, 167dupT - CHM_000354 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux, Kerry Goetz
+/+ 1 3 c.173G>A pathogenic r.173G>A p.(Trp58*) - g.85236757C>T - 203G>A - CHM_000315 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+ 1 3 c.179del pathogenic r.179del p.(Lys60Argfs*10) - g.85236751del - 209del - CHM_000344 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux
+/+ 1 3 c.184_189+3del pathogenic r.spl p.? - g.85236738_85236746del - 214_219+3delTACCAGGTA - CHM_000411 hemizygous PubMed: Bae K et. al., 2017 - - Germline - - - - - David Baux
+/+, +/. 3 3i c.189+1G>A pathogenic r.117_189del, r.spl? p.(?), p.? - g.85236740C>T - 219+1G>A, CHM(NM_000390.3):c.189+1G>A (r.spl?) - CHM_000012 hemizygous; Mutation mRNA level : Skipping exon 3, VKGL data sharing initiative Nederland PubMed: van den Hurk 2003, PubMed: Garcia-Hoyos 2008 - - Germline, CLASSIFICATION record - - - - - David Baux, VKGL-NL
+/+ 1 3i c.189+1G>C pathogenic r.spl p.? - g.85236740C>G - 219+1G>C - CHM_000316 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+ 1 3i c.189+1G>T pathogenic r.spl p.? - g.85236740C>A - 219+1G>T - CHM_000285 hemizygous PubMed: Aleman TS 2017 - - Germline - - - - - David Baux
?/? 1 3i c.190-14T>G VUS r.(?) p.(?) - g.85233909A>C - 220-14T>G - CHM_000013 hemizygous; The pathogenicity of this mutation is uncertain as RT-PCR did not give abnormal mRNA. PubMed: van Bokhoven 1994 - - Germline - - - - - David Baux
+/+, +/. 3 3i c.190-2A>G pathogenic r.190_197del, r.spl p.(?), p.? - g.85233897T>C - 220-2A>G - CHM_000014 1 more item PubMed: van den Hurk 2003 - - Germline - - none - - David Baux, Kerry Goetz
+/+ 1 3i_15_ c.(189+1_190-1)_(*3450_?)del pathogenic r.? p.? - g.(?_85116185)_(85233896_85236740)del - 220-?_5442+?del - CHM_000113 1 more item Preising - - Germline - - - - - David Baux
+/+ 1 4 c.194del pathogenic r.194del p.(Asn65Thrfs*5) - g.85233891del - 224del - CHM_000269 hemizygous - - - Germline - - - - - alina radziwon
-?/. 1 - c.217C>T likely benign r.(?) p.(Pro73Ser) - g.85233868G>A - CHM(NM_000390.2):c.217C>T (p.(Pro73Ser)) - CHM_000419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +/+ 2 4 c.224G>A pathogenic r.(?), r.224G>A p.(Trp75*) - g.85233861C>T - CHM(NM_000390.2):c.224G>A (p.Trp75*), 254G>A - CHM_000446, CHM_000249 VKGL data sharing initiative Nederland, hemizygous - - - CLASSIFICATION record, Germline - - - - - VKGL-NL, alina radziwon
+/+, +/. 3 4 c.225G>A pathogenic r.225G>A, r.(?) p.(Trp75*) - g.85233860C>T - 255G>A - CHM_000355 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux, Kerry Goetz
+/+ 1 4 c.226C>T pathogenic r.(?) p.(Gln76*) - g.85233859G>A - 256C>T - CHM_000015 hemizygous PubMed: Villaverde 2007 - - Germline - - - - - David Baux
+/+ 1 4 c.227_232delinsTGTCATTTCA pathogenic r.227_232delinsUGUCAUUUCA p.(Gln76Leufs*7) - g.85233853_85233858delinsTGAAATGACA - 257_262delinsTGTCATTTCA - CHM_000341 hemizygous PubMed: Cai XB 2016 - - Germline - - - - - David Baux
+/+ 1 4 c.232C>T pathogenic r.232C>U p.(Gln78*) - g.85233853G>A - 262C>T - CHM_000251 hemizygous PubMed: Freund 2016 - - Germline - - - - - alina radziwon
?/. 2 - c.238C>T VUS r.(?) p.(Leu80Phe) - g.85233847G>A - CHM(NM_000390.2):c.238C>T (p.(Leu80Phe)) - CHM_000418 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Kerry Goetz
-/-, -?/. 8 4 c.265A>T benign, likely benign r.(?) p.(Ser89Cys) - g.85233820T>A - 295C>T, CHM(NM_000390.2):c.265A>T (p.(Ser89Cys)) - CHM_000003 hemizygous; recurrent, found 5 times, hemizygous, heterozygous, VKGL data sharing initiative Nederland PubMed: Tarpey 2009; USMA-missense variant in MSV3d, 1 more item - rs145707160 Germline, CLASSIFICATION record - - +HpyCH4V;-DdeI; - - Lucy Raymond, Anne-Françoise Roux, VKGL-NL
+/+ 1 4 c.282del pathogenic r.282del p.(Ile95Phefs*31) - g.85233803del - 312delT - CHM_000292 hemizygous PubMed: Khan KN 2016 - - Germline - - - - - David Baux
+/+ 1 4 c.293del pathogenic r.(?) p.(Val98Glyfs*28) - g.85233792del - 323delT - CHM_000016 hemizygous PubMed: Beaufrère 1997 - - Germline - - -Afl III - - David Baux
+/+ 1 4 c.309T>G pathogenic r.(?) p.(Tyr103*) - g.85233776A>C - 339T>G - CHM_000017 hemizygous PubMed: Villaverde 2007 - - Germline - - +HaeIII - - David Baux
+/+ 2 4i c.315-4587T>A pathogenic r.314_315ins98 p.(?) - g.85223644A>T - 345-4587T>A - CHM_000019 1 more item PubMed: van den Hurk 2003 - - Germline - - - - - David Baux
+/+ 1 4i c.315-1536A>G pathogenic r.(?) p.Ser105Argfs*10 - g.85220593T>C - 345-1536A>G - CHM_000283 hemizygous; Results in the inclusion of a cryptic exon PubMed: Carss KJ 2017 - - Germline - - - - - David Baux
+/. 1 - c.315-1G>C pathogenic r.spl? p.? - g.85219058C>G - CHM(NM_000390.2):c.315-1G>C (p.?) - CHM_000445 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 4 5 c.315_318del pathogenic r.(?), r.315_318del p.(Ser105Argfs*20), p.Ser105Argfs*20 - g.85219054_85219057del - 345_348del - CHM_000018 hemizygous, hemizygous; Characterized at mRNA level PubMed: Fujiki 1999, PubMed: Mc Taggart 2002, PubMed: Esposito 2011, PubMed: Aleman TS 2017 - - Germline - - -BsrI - - David Baux, Francesco Salvatore
+/+ 1 4i_5i c.(314+1_315-1)_(702+1_703-1)del pathogenic r.? p.? - g.(85213983_85218669)_(85219058_85233770)del - 345-?_732+?del - CHM_000256 hemizygous - - - Germline - - - - - alina radziwon
+/+ 2 4i_8i c.(314+1_315-1)_(1166+1_1167-1)del pathogenic r.? p.? - g.(85166344_85211157)_(85219058_85233770)del - 345-?_1196+?del - CHM_000105 hemizygous; REP-1 not detected, heterozygous PubMed: Mc Taggart 2002, PubMed: Yau 2007 - - Germline - - - - - David Baux
+?/?, +/. 4 5 c.316C>T likely pathogenic, pathogenic r.(?) p.(Gln106*) - g.85219056G>A - 346C>T, CHM(NM_000390.2):c.316C>T (p.Gln106*) - CHM_000020, CHM_000444 hemizygous, VKGL data sharing initiative Nederland PubMed: Nesslinger 1996 - - Germline, CLASSIFICATION record - - -Hpy188III - - David Baux, Kerry Goetz, VKGL-NL
-/., -/-, ?/. 6 5 c.351A>G benign, VUS r.(?), r.351a>g p.(=), p.=, p.(Ala117=) - g.85219021T>C - CHM(NM_000390.2):c.351A>G (p.A117=), 381A>G - CHM_000417, CHM_000004 VKGL data sharing initiative Nederland, hemizygous; recurrent, found 28 times - A117A, 1 more item PubMed: Tarpey 2009, PubMed: Esposito 2011, 10217950 - rs10217950 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, Lucy Raymond, Anne-Françoise Roux, Kerry Goetz
+/. 1 - c.368_702+58delins(221) pathogenic r.? p.? - g.? - 368_702+58del393ins222 - CHM_000483 - - - - Germline - - - - - Kerry Goetz
+/+ 1 5 c.372del pathogenic r.(?) p.(Val125*) - g.85219000del - 402delT - CHM_000021 hemizygous PubMed: Itabashi 2004 - - Germline - - - - - David Baux
+/+ 1 5 c.470_473del pathogenic r.470_473del p.(Gln157Leufs*10) - g.85218899_85218902del - 500_503del - CHM_000271 hemizygous PubMed: Dimopoulos IS 2016 - - Germline - - - - - alina radziwon
+/+ 3 5 c.492_493del pathogenic r.492_493del p.(Asn165Cysfs*8) - g.85218879_85218880del - 522_523del - CHM_000317, CHM_000370, CHM_000392 hemizygous PubMed: Ramsden SC 2013, PubMed: Xue K 2016, PubMed: Jolly JK 2015 - - Germline - - - - - David Baux
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