Unique variants in the CHM gene


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.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
+/., +?/. 5 - c.? r.0, r.0?, r.? p.(Ala48_Glu113del), p.(Asp244Ilefs*2), p.0, p.0? - ACMG likely pathogenic, pathogenic g.? - del entire gene, del ex1-2, NM_000390.4:c.143_340del (Ala48_Glu113del), Whole gene deletion, 1 more item - USP9X_000005 - PubMed: Sharon 2019, PubMed: Stone 2017 - - Germline - 1/2420 IRD families, 2/2420 IRD families - - - Global Variome, with Curator vacancy
+/+ 1 _1_1i c.-30_49+9142{0} r.0? p.0? - - pathogenic g.85293348_85304546del g.86038344_86049542del 1-2010_49+9140del - CHM_000112 hemizygous PubMed: van den Hurk 2003 - - Germline - - - - - David Baux
+?/+? 1 _1 - r.0? p.0? - - 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) - - - - - David Baux
+/+, +/? 2 _1 - r.(?) p.(?) - - pathogenic g.85302634G>A, g.85302634G>T g.86047630G>A, g.86047630G>T -68C>A/c.-98C>A, -68C>T/c.-98C>T - CHM_000279, CHM_000280 hemizygous; The variant was shown to abrogate gene expression in a promoter assay. PubMed: Radziwon 2017 - - Germline - - - - - David Baux
+/+ 1 _1 - r.0? p.0? - 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) - - - - - David Baux
+/+, ?/? 6 _1_1i c.-30_(49+1_50-1){0} r.0 p.0 - - pathogenic, VUS g.(85282562_85302487)_(85302566_?)del g.(86027558_86047483)_(85302566_?)del 1-?_79+?del - CHM_000095 hemizygous, hemizygous; REP-1 not detected, heterozygous PubMed: Aleman TS 2017, PubMed: Mc Taggart 2002, PubMed: van den Hurk 1997, PubMed: Yau 2007 - - Germline - - - - - David Baux
+/+ 1 _1_2i c.-30_(116+1_117-1)dup;c.1167-?_1510+?dup r.0 p.0 - - 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 - - - - - David Baux
+/+ 1 _1_2i c.-30_(116+1_117-1){0} r.0 p.0 - - pathogenic g.(85236814_85282494)_(85302566_?)del g.(85981810_86027490)_(86047562_?)del 1-?_146+?del - CHM_000096 hemizygous PubMed: van den Hurk 1997 - - Germline - - - - - David Baux
+/+ 2 _1_8i c.-30_(1166+1_1167-1){0} r.0 p.0 - - 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 - - - - - David Baux
+/+ 1 _1_11i c.-30_(1413+1_1414-1){0} r.0 p.0 - - pathogenic g.(85149290_85155650)_(85302566_?)del g.(85894285_85900645)_(86047562_?)del 1-?_1443+?del - CHM_000286 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+ 1 _1_12i c.-30_(1510+1_1511-1){0} r.0 p.0 - - pathogenic g.(85134069_85149192)_(85302566_?)del g.(85879064_85894187)_(86047562_?)del 1-?_1630+?del - CHM_000245 hemizygous PubMed: Dimopoulos IS 2016 - - Germline - - - - - Alina Radziwon
+/+ 1 _1_13i c.-30_(1609+1_1610-1){0} r.0 p.0 - - pathogenic g.(85128218_85133969)_(85302566_?)del g.(85873213_85878964)_(86047562_?)del 1-?_1639+?del - CHM_000098 hemizygous PubMed: Fujiki 1999 - - Germline - - - - - David Baux
+/+ 20 _1_15_ c.-30_*3450{0} r.0 p.0 - - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion, hemizygous; total gene deletion from DXS110 to DXS121., 6 more items Preising, PubMed: Aleman TS 2017, PubMed: Cremers 1990, PubMed: Esposito 2011, PubMed: Khateb 2016, 7 more items - - Germline - - - - - David Baux, Anne-Françoise Roux
+/. 1 2i_15_ c.(116+1_117-1)_*3450{0} r.? p.0 - - pathogenic (dominant) g.(?_85116185)_(85236814_85282494)del - c.117-?_1962+? POF1Bdel max 0.9 Mb - CHM_000104 - PubMed: Zeitz 2021 - - Germline - - - - - Christina Zeitz
+/. 2 14i_15_ c.(1770+1_1771-1)_*3450{0} r.? p.(Ala591_Glu653delins13) - - 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 - - - - - Christina Zeitz
+/. 1 6i_15_ c.(819+1_820-1)_*3450{0} r.? p.(Val274_Glu653delins13) - - pathogenic (dominant) g.(?_85116185)_(85212981_85213865)del - c.820- ?_1962+?, max 0.3 Mb - CHM_000514 - PubMed: Zeitz 2021 - - Germline - - - - - Christina Zeitz
+/. 2 _1_15_ c.-30_*3450{0} r.0 p.0 - - pathogenic (dominant) g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del max 3.3Mb deletion CHM, DACH2 and KLHL4, max 4.1Mb deletion CHM, DACH2, KLHL4, and CPXCR1del - CHM_000099 - PubMed: Zeitz 2021 - - Germline - - - - - Christina Zeitz
+?/. 1 _1_8i c.-30_1166+8052{0} r.0? p.0? - - likely pathogenic g.85203106_85546828del - del ex1-8, chrX:85203106-85546828del - CHM_000538 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/. 1 1 c.-30_49+187{0} r.0? p.0? - ACMG pathogenic g.85302304_85304319del g.86047300_86049315del c.-1780_49+187del - CHM_000550 1 more item - - - Germline - - - - - Juan Cadiñanos
+/. 1 _1_2i c.-30_(189+1_190-1){0} r.? p.? - ACMG pathogenic g.(85233896_85236740)_(85302566_?)del - c.1_188del - USP9X_000005 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
+/., +?/+, +?/. 3 1 c.3G>A r.(?), r.3g>a p.(Met1?), p.0? - ACMG likely pathogenic, pathogenic g.85302534C>T g.86047530C>T 33G>A, CHM c.3G>A, p.(Met1?), Met1? - CHM_000128 hemizygous PubMed: Jespersgaar 2019, PubMed: Strunnikova 2009 - - Germline ? - -BccI;-EciI; - - Anne-Françoise Roux, Kerry Goetz
-?/. 1 1 c.8A>G r.(?) p.(Asp3Gly) - - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.16_17dup r.16_17dup p.(Ser7Leufs*6) - - pathogenic g.85302521_85302522dup g.86047517_86047518dup 46_47dupCC - CHM_000307 hemizygous PubMed: Dysli C 2016 - - Germline - - - - - David Baux
+/+ 1 1 c.17del r.(?) p.(Pro6Leufs*6) - - pathogenic g.85302522del g.86047518del 47delC - CHM_000005 hemizygous; REP-1 not detected PubMed: Mc Taggart 2002 - - Germline - - - - - David Baux
+/+ 1 1 c.20C>A r.20c>a p.(Ser7*) - - pathogenic g.85302517G>T g.86047513G>T 50C>A - CHM_000310 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+?/. 1 - c.22_33del r.(?) p.(Glu8_Val11del) - - likely pathogenic g.85302505_85302516del g.86047501_86047512del 21_32delGGAGTTTGATGT - CHM_000543 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/+, +/. 3 1 c.25_28delinsAGTAATAGTAA r.(?), r.25_28deluuuginsaguaauaguaa p.(Phe9Serfs*14), p.Phe9Serfs*14 - - pathogenic g.85302509_85302512delinsTTACTATTACT g.86047505_86047508delinsTTACTATTACT 25_28del4ins12, 55_58delTTTGinsAGTAATAGTAA - CHM_000282 hemizygous PubMed: Aleman TS 2017, PubMed: Freund 2016 - - Germline - - - - - David Baux, Kerry Goetz
+/. 1 1 c.36del r.(?) p.(Ile12Metfs*2) - - pathogenic (dominant) g.85302501del g.86047497del - - CHM_000135 - PubMed: Zeitz 2021 - - Germline - - - - - Christina Zeitz
+/+, +/. 2 1 c.37del r.(?), r.37del p.(Val13*) - - pathogenic g.85302500del g.86047496del 37delG, 67del - CHM_000351 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux, Kerry Goetz
+/+ 1 1 c.49G>T r.(?) p.(?) - - pathogenic g.85302488C>A g.86047484C>A 79G>T - CHM_000390 hemizygous; Likely affects splicing PubMed: Sanchez-Alcudia R 2016 - - Germline - - - - - David Baux
+/+ 1 1i c.49+1G>A r.spl p.? - - pathogenic g.85302487C>T g.86047483C>T 79+1G>A - CHM_000006 hemizygous PubMed: Mc Taggart 2002 - - Germline - - - - - David Baux
+/. 2 1i c.49+1G>C r.spl p.? - - pathogenic g.85302487C>G g.86047483C>G - - CHM_000487 - - - - Germline - - - - - Kerry Goetz
+/., +?/. 2 - c.49+1G>T r.spl p.(?), p.? - - likely pathogenic, pathogenic g.85302487C>A g.86047483C>A c.49+1C>A, p.?, IVS1+1 G>T - CHM_000542 error in annotation: c.49+1C>A instead of G>T, hemizygous PubMed: Stone 2017, PubMed: Wang 2019 - - Germline ? - - - - LOVD
+/+, +/. 3 1i c.49+2dup r.spl, r.spl? p.? - - pathogenic g.85302486dup g.86047482dup 49+2dupT, 79+2dupT, IVS1+2dupT - CHM_000311 hemizygous PubMed: Ramsden SC 2013, PubMed: Wang 2017 - - Germline - - - - - David Baux, Kerry Goetz
+/+, +/., +?/. 5 1i c.49+3A>G r.spl, r.spl? p.? - - likely pathogenic, pathogenic, pathogenic (dominant) g.85302485T>C g.86047481T>C 79+3A>G - CHM_000352 hemizygous Zeitz 2021, submitted, PubMed: Ellingford 2016, PubMed: Freund 2016 - - Germline - - - - - David Baux, Christina Zeitz, Kerry Goetz
+/+ 1 1i c.49+3del r.spl? p.? - - pathogenic g.85302485del g.86047481del 79+3del - CHM_000406 hemizygous PubMed: Edwards TL 2015 - - Germline - - - - - David Baux
+/+ 1 1i c.49+3_49+10delinsGCTT r.spl? p.? - - pathogenic g.85302478_85302485delinsAAGC g.86047474_86047481delinsAAGC 79+3_79+10delinsGCTT - CHM_000312 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+, +/. 3 1i c.49+5G>T r.spl, r.spl? p.? - - pathogenic, pathogenic (dominant) g.85302483C>A g.86047479C>A 79+5G>T - CHM_000007 hemizygous Zeitz 2021, submitted, PubMed: Aleman TS 2017, PubMed: van den Hurk 2003 - - Germline - - - - - David Baux, Christina Zeitz
?/. 1 1i c.50-214del r.(?) p.(=) - - VUS g.85282775del g.86027771del - - CHM_000464 - - - - Germline - - - - - Yu Sun
+/+ 2 1i c.50-1G>C r.spl p.? - - pathogenic g.85282562C>G g.86027558C>G 80-1G>C - CHM_000008 hemizygous PubMed: Fujiki 1999 - - Germline - - - - - David Baux
?/. 1 2 c.50G>C r.(?) p.(Gly17Ala) - - VUS g.85282561C>G g.86027557C>G - - CHM_000503 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 2 1i_2i c.(49+1_50-1)_(116+1_117-1)del r.(?), r.? p.(?), p.? - - pathogenic g.(85236814_85282494)_(85282562_85302487)del, g.? - 80-?_146+?del, del ex2 c.50-?_116+?del - CHM_000391, USP9X_000005 hemizygous PubMed: Sanchez-Alcudia R 2016, PubMed: Van Huet 2015 - - Germline - - - - - David Baux
+/+ 1 1i_3 c.(49+1_50-1)_(189+1_190-1)del r.50_189del p.Gly17Aspfs*10 - - pathogenic 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 r.? p.? - - pathogenic g.(85219058_85233770)_(85282562_85302487)del - 80-?_334+?del - CHM_000267 hemizygous PubMed: Aleman TS 2017, PubMed: Freund 2016 - - Germline - - - - - David Baux
+/. 1 1i_5i c.(49+1_50-1)_(702+1_703-1)del r.? p.(Gly17Alafs*10) - - pathogenic (dominant) g.(85213983_85218669)_(85282562_85302487)del - c.50-?_702+?del, max 0.088Mb - CHM_000527 - Zeitz 2021, submitted - - Germline - - - - - Christina Zeitz
+/. 1 1i_8i c.(49+1_50-1)_(1166+1_1167-1)del r.? p.(Leu18Cysfs*19) - - pathogenic (dominant) g.(85166344_85211157)_(85282562_85302487)del - c.50-?_1166+?del, max 0.095 Mb - CHM_000521 - Zeitz 2021, submitted - - Germline - - - - - Christina Zeitz
+/+, +/. 2 2 c.82del r.(?), r.82del p.(Ser28Glnfs*32) - - pathogenic g.85282530del g.86027526del 112del, 82delT - CHM_000394 hemizygous PubMed: Cideciyan AV 2015 - - Germline - - - - - David Baux, Kerry Goetz
+?/+? 2 2 c.104T>C r.104u>c p.(Leu35Pro) - - likely pathogenic g.85282507A>G g.86027503A>G 134T>C - CHM_000313 hemizygous PubMed: Ramsden SC 2013, PubMed: Simunovic MP 2017 - - Germline - - - - - David Baux
?/. 1 - c.107A>T r.(?) p.(His36Leu) - - VUS g.85282504T>A - CHM(NM_000390.2):c.107A>T (p.H36L) - CHM_000536 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2i c.115+1G>A r.spl p.? - ACMG pathogenic g.85282495C>T - - - CHM_000511 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
+/+, +/. 2 2 c.116C>A r.(?), r.116c>a p.(Ser39*), p.(Ser39Ter) - - pathogenic g.85282495G>T g.86027491G>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 - - CLASSIFICATION record, Germline - - - - - David Baux, VKGL-NL_AMC
?/. 1 - c.116C>T r.(?) p.(Ser39Leu) - ACMG VUS g.85282495G>A g.86027491G>A CHM:NM_000390 c.C116T, p.S39L - CHM_000560 hemizygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
+/+, +/. 7 2i c.116+1G>A p.(?), r.spl, r.spl? p.(Gly17Glufs), p.? - ACMG pathogenic g.85282494C>T g.86027490C>T 146+1G>A, c.116+1G>A - CHM_000009, CHM_000448 hemizygous, VKGL data sharing initiative Nederland PubMed: Aleman TS 2017, PubMed: Fujiki 1999, PubMed: Mc Taggart 2002, PubMed: van den Hurk 2003, 1 more item - - CLASSIFICATION record, Germline - - - - - David Baux, VKGL-NL_Nijmegen, Kerry Goetz
+/+, +/. 4 2i c.116+1G>C r.spl p.(Gly17Glufs), p.? - - pathogenic, pathogenic (recessive) g.85282494C>G g.86027490C>G 146+1G>C - CHM_000353 hemizygous PubMed: de Castro-Miro 2018, PubMed: Freund 2016 - - Germline - - - - - Johan den Dunnen, David Baux, Kerry Goetz
+/+, +/. 3 2i c.116+1G>T r.116_117del, r.50_116del, r.spl p.?, p.Gly17Glufs*21 - - pathogenic, pathogenic (dominant) g.85282494C>A g.86027490C>A 146+1G>T - CHM_000114 hemizygous; Aberrant splicing that causes exon 2 skipping at mRNA level PubMed: Esposito 2011, PubMed: Zeitz 2021 - - Germline - - +AflII;+SmlI;+MseI; - - Christina Zeitz, Francesco Salvatore, Kerry Goetz
+/. 1 2i c.116+2T>C r.spl? p.? - - pathogenic g.85282493A>G g.86027489A>G CHM(NM_000390.2):c.116+2T>C - CHM_000502 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 7 2i c.116+80C>T r.(?) p.(=) - - VUS g.85282415G>A g.86027411G>A - - CHM_000161, CHM_000461 - 1015148 - - Germline - - - - - Yu Sun, Kerry Goetz
?/. 6 2i c.116+215_116+216insCCTTT r.(?) p.(=) - - VUS g.85282283_85282284insGAAAG g.86027279_86027280insGAAAG 116+215insCCTTT, 116+215_216insCCTTT - CHM_000160, CHM_000465 - 3078127 - - Germline - - - - - Yu Sun, Kerry Goetz
+?/. 1 - c.117-331_314+251del r.spl p.(?) - - likely pathogenic g.85233522_85237146del g.85978518_85982142del CHM chrX:85233521_85237145del - chrX_017752 range 3624-7411 bp in various techniques, homozygous PubMed: Zampaglione-2020 - - Unknown ? - - - - LOVD
-/. 1 2i c.117-12dup r.(=) p.(=) - - benign g.85236840dup g.85981836dup CHM(NM_000390.2):c.117-12dupT - CHM_000501 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.117-3_117del r.spl p.(?) - - pathogenic g.85236814_85236817del g.85981810_85981813del c.117-3_117del, p.? - CHM_000559 hemizygous PubMed: Wang 2019 - - Germline ? - - - - LOVD
+/. 1 2i c.117-1G>A r.spl p.? - - pathogenic g.85236814C>T g.85981810C>T - - CHM_000486 - - - - Germline - - - - - Kerry Goetz
+/+ 1 - c.(116+1_117-1)_314+?del;c.703-?_1510+?del r.? p.? - - pathogenic g.? - 147-?_344+?del;733-?_1541+?del - CHM_000264 hemizygous; Non contiguous deletion of exons 3-4 and 6-12 - - - Germline - - - - - Alina Radziwon
+/+, +/. 2 2i_4i c.(116+1_117-1)_(314+1_315-1)del r.? p.0?, p.? - - pathogenic, pathogenic (dominant) g.(85219058_85233770)_(85236814_85282494)del - 147-?_344+?del, c.117-?_314+?del, max 0.06 Mb - CHM_000100 hemizygous Zeitz 2021, submitted, PubMed: Garcia-Hoyos 2008 - - Germline - - - - - David Baux, Christina Zeitz
+/+ 1 4i_7i c.(116+1_117-1)_(940+1_941-1)del r.? p.? - - pathogenic g.(85211384_85212859)_(85236814_85282494)del - 147-?_970+?del - CHM_000272 hemizygous PubMed: Dimopoulos IS 2016 - - Germline - - - - - Alina Radziwon
+/+, +?/. 5 2i_8i c.(116+1_117-1)_(1166+1_1167-1)del ?, r.? ?, p.? - ACMG pathogenic g.(85166344_85211157)_(85236814_85282494)del - 147-?_1196+?del - CHM_000101 hemizygous PubMed: Aleman TS 2017, PubMed: Cremers 1990, PubMed: Mc Taggart 2002 - - Germline, Germline/De novo (untested) - - - - - David Baux, Jinu Han
+/+, +?/. 2 2i_9i c.(116+1_117-1)_(1244+1_1245-1)del c.?, r.? p.? - - likely pathogenic, pathogenic g.(85156194_85166265)_(85236814_85282494)del, g.? - 147-?_1274+?del, del ex3-9: c.(116+1_117-1)_(1244+1_1245-1)del - CHM_000102, USP9X_000005 hemizygous PubMed: Bravo-Gil 2017, PubMed: Jacobson 2006 - - Germline yes - - - - David Baux, Nereida Bravo Gil
+?/? 1 2i_9i c.(116+1_117-1)_(1244+1_1245-1)dup r.? p.? - - likely pathogenic 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 r.? p.? - - pathogenic 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{0} r.? p.? - - pathogenic g.(?_85116185)_(85236814_85282494)del - 147-?_5442+?del - CHM_000104 hemizygous PubMed: van Bokhoven 1994 - - Germline - - - - - David Baux
+/+ 1 3 c.124_133dup r.124_133dup p.(Gly45Valfs*10) - - pathogenic g.85236797_85236806dup g.85981793_85981802dup 154_163dup - CHM_000395 hemizygous PubMed: Seitz 2015 - - Germline - - - - - David Baux
+/. 1 3 c.126C>A r.(?) p.(Tyr42*) - - pathogenic g.85236804G>T g.85981800G>T - - CHM_000485 - - - - Germline - - - - - Kerry Goetz
+/+ 1 3 c.126C>G r.126c>g p.(Tyr42*) - - pathogenic g.85236804G>C g.85981800G>C 156C>G - CHM_000314 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+ 1 3 c.130G>T r.(?) p.(Gly44*) - - pathogenic g.85236800C>A g.85981796C>A 160G>T - CHM_000010 hemizygous; REP-1 not detected PubMed: Mc Taggart 2002 - - Germline - - - - - David Baux
+/+ 1 3 c.140G>A r.(?) p.(Trp47*) - - pathogenic g.85236790C>T g.85981786C>T 170G>A - CHM_000011 hemizygous PubMed: Fujiki 1999 - - Germline - - +BfaI;-Sau96I - - David Baux
+/+ 1 3 c.141G>A r.141g>a p.(Trp47*) - - pathogenic g.85236789C>T g.85981785C>T 171G>A - CHM_000388 hemizygous PubMed: Sanchez-Alcudia R 2016 - - Germline - - - - - David Baux
-?/. 1 3 c.162A>G r.(?) p.(Gly54=) - - likely benign g.85236768T>C g.85981764T>C CHM(NM_000390.2):c.162A>G (p.G54=) - CHM_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 3 c.167dup r.(?), r.167dup p.(Leu56Phefs*12) - - pathogenic g.85236764dup g.85981760dup 167dupT, 197dup - CHM_000354 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux, Kerry Goetz
+/+, +/. 4 3 c.173G>A r.(?), r.173g>a p.(Trp58*) - ACMG pathogenic g.85236757C>T g.85981753C>T 203G>A - CHM_000315 hemizygous Tracewska 2021, MolVis in press, PubMed: Ramsden SC 2013 - - Germline yes 0 (in-house database, ~5000 samples) - - - David Baux
+/+ 1 3 c.179del r.179del p.(Lys60Argfs*10) - - pathogenic g.85236753del g.85981749del 209del - CHM_000344 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux
+/+ 1 3 c.184_189+3del r.spl p.? - - pathogenic g.85236739_85236747del g.85981735_85981743del 214_219+3delTACCAGGTA - CHM_000411 hemizygous PubMed: Bae K et. al., 2017 - - Germline - - - - - David Baux
+/. 2 3 c.187C>T r.(?) p.(Gln63*), p.(Gln63Ter) - ACMG pathogenic g.33312700T>G, g.85236743G>A g.33273088T>G CHM c.187C>T, p.Q63X - BBS9_000125, CHM_000510 - PubMed: Kim 2019, PubMed: Kim 2019 - - Germline ? 1/86 cases - - - Global Variome, with Curator vacancy
+/+, +/. 3 3i c.189+1G>A r.117_189del, r.spl? p.(?), p.? - - pathogenic g.85236740C>T g.85981736C>T 219+1G>A - CHM_000012 hemizygous; Mutation mRNA level : Skipping exon 3, VKGL data sharing initiative Nederland PubMed: Garcia-Hoyos 2008, PubMed: van den Hurk 2003 - - CLASSIFICATION record, Germline - - - - - David Baux, VKGL-NL_Nijmegen
+/+ 1 3i c.189+1G>C r.spl p.? - - pathogenic g.85236740C>G g.85981736C>G 219+1G>C - CHM_000316 hemizygous PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
+/+ 1 3i c.189+1G>T r.spl p.? - - pathogenic g.85236740C>A g.85981736C>A 219+1G>T - CHM_000285 hemizygous PubMed: Aleman TS 2017 - - Germline - - - - - David Baux
?/? 1 3i c.190-14T>G r.(?) p.(?) - - VUS g.85233909A>C g.85978905A>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
+/. 1 3i_4 c.190-13_206del r.spl p.(Glu64Lysfs*2) - - pathogenic (dominant) g.85233880_85233909del g.85978876_85978905del - - CHM_000532 - Zeitz 2021, submitted - - Germline - - - - - Christina Zeitz
+/+, +/. 4 3i c.190-2A>G r.190_197del, r.spl, r.spl? p.(?), p.? - - pathogenic g.85233897T>C g.85978893T>C 220-2A>G - CHM_000014, CHM_000447 VKGL data sharing initiative Nederland, 1 more item PubMed: van den Hurk 2003 - - CLASSIFICATION record, Germline - - none - - David Baux, VKGL-NL_Nijmegen, Kerry Goetz
+/+ 1 3i_15_ c.(189+1_190-1)_*3450{0} r.? p.? - - pathogenic g.(?_85116185)_(85233896_85236740)del - 220-?_5442+?del - CHM_000113 1 more item Preising - - Germline - - - - - David Baux
+/+ 1 4 c.194del r.194del p.(Asn65Thrfs*5) - - pathogenic g.85233894del g.85978890del 224del - CHM_000269 hemizygous - - - Germline - - - - - Alina Radziwon
?/. 1 - c.223T>C r.(?) p.(Trp75Arg) - - VUS g.85233862A>G g.85978858A>G - - CHM_000548 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
+/+, +/. 2 4 c.224G>A r.(?), r.224g>a p.(Trp75*), p.(Trp75Ter) - - pathogenic g.85233861C>T g.85978857C>T 254G>A - CHM_000249, CHM_000446 hemizygous, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Alina Radziwon
+/+, +/. 3 4 c.225G>A r.(?), r.225g>a p.(Trp75*) - - pathogenic g.85233860C>T g.85978856C>T 255G>A - CHM_000355 hemizygous PubMed: Freund 2016 - - Germline - - - - - David Baux, Kerry Goetz
+/+ 1 4 c.226C>T r.(?) p.(Gln76*) - - pathogenic g.85233859G>A g.85978855G>A 256C>T - CHM_000015 hemizygous PubMed: Villaverde 2007 - - Germline - - - - - David Baux
+/+ 1 4 c.227_232delinsTGTCATTTCA r.227_232delinsugucauuuca p.(Gln76Leufs*7) - - pathogenic g.85233853_85233858delinsTGAAATGACA g.85978849_85978854delinsTGAAATGACA 257_262delinsTGTCATTTCA - CHM_000341 hemizygous PubMed: Cai XB 2016 - - Germline - - - - - David Baux
+/+ 1 4 c.232C>T r.232c>u p.(Gln78*) - - pathogenic g.85233853G>A g.85978849G>A 262C>T - CHM_000251 hemizygous PubMed: Freund 2016 - - Germline - - - - - Alina Radziwon
+?/., -?/., ?/. 3 4 c.238C>T r.(?) p.(Leu80Phe) - - likely benign, likely pathogenic, VUS g.85233847G>A g.85978843G>A CHM(NM_000390.2):c.238C>T (p.(Leu80Phe)) - CHM_000418 VKGL data sharing initiative Nederland PubMed: Bravo-Gil 2017 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Nereida Bravo Gil, Kerry Goetz
+/. 1 4 c.262_263dup r.(?) p.(Ser89LeufsTer38) - - pathogenic g.85233822_85233823dup - - - CHM_000513 - - - - Unknown - - - - - IMGAG
-/- 7 4 c.265A>T r.(?) p.(Ser89Cys) - - benign g.85233820T>A g.85978816T>A 295C>T - CHM_000003 hemizygous, hemizygous; recurrent, found 5 times, heterozygous PubMed: Neveling 2012; USMA-missense variant in MSV3d, 1 more item - rs145707160 Germline - - +HpyCH4V;-DdeI; - - Lucy Raymond, Anne-Françoise Roux
+/+ 1 4 c.282del r.282del p.(Ile95Phefs*31) - - pathogenic g.85233803del g.85978799del 312delT - CHM_000292 hemizygous PubMed: Khan KN 2016 - - Germline - - - - - David Baux
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