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.

512 entries on 6 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     
+?/. 1 - c.(116+1_117-1)_(*3450_?)del r.spl p.(?) - - likely pathogenic g.? g.? CHM, variant 1 :Deletion exon 3-15 - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/. 1 - c.(1770+1_1771-1)_(*3450_?)del r.spl p.(?) - - likely pathogenic g.? g.? CHM, variant 1 :Deletion exon 15 - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/. 1 _1_15_ c.(?_-33)_(*3450_?)del r.0? p.0? - - likely pathogenic g.? g.? CHM Deletion Exons 1-15, putative loss of function - USP9X_000005 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - LOVD
+?/. 5 5 c.0 r.0 p.0 - - likely pathogenic g.0 - REP1 deletion - CHM_000633 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+/., +?/., ?/. 13 - c.? r.0, r.0?, r.? p.(Ala48_Glu113del), p.(Asp244Ilefs*2), p.0, p.0?, p.? - ACMG likely pathogenic, NA, pathogenic g.? g.? CHM, variant 1 :Deletion entire gene, del entire gene, del ex1-2, Deletionof5.0Mb, Ser233Ter, 3 more items - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Hayashi 2020, PubMed: Sharon 2019, PubMed: Stone 2017, PubMed: Vitale 2020, 1 more item - - Germline, Unknown ?, yes 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
+?/. 1 1 c.-30-1_49+1del r.spl? p.? - - likely pathogenic g.85302487_85302567del - Deletion of exon 1 - CHM_000653 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+?/. 1 1_2i c.-30-1_116+1del r.spl? p.? - - likely pathogenic g.85282494_85302567del - Duplication of exons 1-2 and 9-12 - CHM_000650 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+?/. 1 1_11i c.-30-1_1413+1del r.spl? p.? - - likely pathogenic g.85155650_85302567del - Deletion of exons 1-11 - CHM_000640 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+?/. 2 1_15 c.-30-1_*3450del r.spl? p.? - - likely pathogenic g.85116185_85302567del - Deletion of exon 1-15 - CHM_000637 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+/. 4 1_15 c.-30-1_*3450+1del r.spl? p.? - - pathogenic g.85116184_85302567del - REP-1: E1-E15 deletion - CHM_000588 - PubMed: Zhou 2017 - - Germline - - - - - LOVD
+/+, ?/? 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
+/. 3 1_15 c.-30_*3450del r.? p.? - - pathogenic g.85116185_85302566del - c.(?_-1)_(*1_?)del - CHM_000589 - PubMed: McLaren 2020 - - Germline yes - - - - LOVD
+/+ 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
+/. 2 1_15 c.-29-1_5412+1del r.spl? p.? - - pathogenic g.85116184_85302566del - c.-29-1_5412+1del - CHM_000587 - PubMed: Mucciolo 2019 - - Germline - - - - - LOVD
+?/. 3 - c.(?_-27)_(49+1_50-1)del r.spl p.(?) - - likely pathogenic g.? g.? CHM, variant 1 :Deletion exon 1 - USP9X_000005 deletion boundaries not mentioned, solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - LOVD
+?/. 1 - c.(?_-1)_(49+1_50-1)del r.0? p.0? - - likely pathogenic g.(?_85302537)_(85282562_85302487)del g.(?_86047533)_(86027558_86047483)del g.85302437_85302586del - CHM_000585 - PubMed: Ellingford 2017 - - Germline - - - - - Johan den Dunnen
+/. 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
?/. 1 - c.2T>A r.(?) p.(Met1?) - ACMG VUS g.85302535A>T g.86047531A>T CHM c.2T>A, p.(Met1?) - CHM_000584 hemizygous PubMed: Kim 2021 - - Unknown ? - - - - LOVD
+/., +?/+, +?/. 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
+?/. 4 1 c.22delG r.(?) p.(Glu8Serfs*4) - - likely pathogenic g.85302515delC - c.22delG - CHM_000632 - PubMed: Dan 2020 - - Germline yes - - - - LOVD
+?/. 4 - c.22G>T r.(?) p.(Glu8*) - - likely pathogenic g.85302515C>A g.86047511C>A CHM, variant 1: c.22G>T/p.E8* - CHM_000572 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/. 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
+/+, +/. 4 1i c.49+1G>A r.spl, r.spl? p.? - - pathogenic g.85302487C>T g.86047483C>T 79+1G>A, IVS1+1G>A - CHM_000006 hemizygous PubMed: Ben-Charfeddine 2015, 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
+/., +?/. 5 1i c.49+1G>T r.spl, r.spl? p.(?), p.? - - likely pathogenic, pathogenic g.85302487C>A g.86047483C>A c.49+1C>A, p.?, c.49+1G>T, IVS1+1 G>T - CHM_000542 error in annotation: c.49+1C>A instead of G>T, hemizygous PubMed: McLaren 2020, PubMed: Stone 2017, PubMed: Wang 2019 - - Germline ?, yes - - - - 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
+?/. 1 1i c.49+2dupT r.spl? p.? - - likely pathogenic g.85302486dupA - c.49+2dupT - CHM_000652 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+/+, +/., +?/. 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+3delA r.spl? p.? - - likely pathogenic g.85302485delT - c.49+3delA - CHM_000651 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+/+, +?/. 2 1i c.49+3_49+10delinsGCTT r.spl? p.? - - likely pathogenic, pathogenic g.85302478_85302485delinsAAGC g.86047474_86047481delinsAAGC 79+3_79+10delinsGCTT, c.49+3_49+10delinsGCTT - CHM_000312 hemizygous PubMed: Dubis 2021, PubMed: Ramsden SC 2013 - - Germline - - - - - David Baux
?/. 1 1i c.49+5G>A r.spl? p.? - - VUS g.85302483C>T - c.49+5G>A - CHM_000631 - PubMed: Hayashi 2020 - - Germline - - - - - LOVD
+/. 1 1i c.49+5G>C r.spl? p.? - - pathogenic g.85302483C>G - REP-1: c.49+5G>C - CHM_000630 - PubMed: Zhou 2017 - - Germline - - - - - LOVD
+/+, +/. 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 1i_2i c.50-1_116+1del r.spl? p.? - - NA g.85282494_85282562del - Exon2deletion - CHM_000627 - PubMed: Hayashi 2020 - - Germline - - - - - LOVD
+?/. 1 1i_7i c.50-1_940+1del r.spl? p.? - - likely pathogenic g.85212859_85282562del - Deletion of exon 2-7 - CHM_000644 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
?/. 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
+/. 1 2 c.83C>G r.(?) p.(Ser28*) - - pathogenic g.85282528G>C - c.83C>G (p.Ser28*) - CHM_000629 - PubMed: Skorczyk-Werner 2018 - - Unknown - - - - - LOVD
+/. 1 2 c.97_98insSVA r.50_116del p.(Arg33insSVA) - - pathogenic g.85282513_85282514insTBS - c.97_98insSVA, p.(Arg33insSVA) - CHM_000628 - PubMed: Jones 2020 - - Unknown - - - - - LOVD
+?/+? 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
+?/. 2 - c.116C>G r.(?) p.(Ser39*) - - likely pathogenic g.85282495G>C g.86027491G>C CHM, variant 1: c.116C>G/p.S39* - CHM_000571 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - LOVD
?/. 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
+/+, +/., +?/. 10 2i c.116+1G>A p.(?), r.spl, r.spl? p.(Gly17Glufs), p.? - ACMG likely pathogenic, 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: Dubis 2021, PubMed: Fujiki 1999, PubMed: Mc Taggart 2002, 3 more items - - CLASSIFICATION record, Germline, Unknown ? - - - - 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
?/. 1 2i c.116+5G>A r.spl? p.? - - VUS g.85282490C>T - c.116+5G>A - CHM_000626 - PubMed: Hayashi 2020 - - Germline - - - - - LOVD
-?/., ?/. 9 2i c.116+80C>T r.(=), r.(?) p.(=) - - likely benign, VUS g.85282415G>A g.86027411G>A c.116+80C>T - CHM_000161, CHM_000461 - 1015148, PubMed: Ouyang 2017 - rs1015148 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 2i c.116+735A>G r.(=) p.(=) - - likely benign g.85281760T>C - c.116+735A>G - CHM_000625 - PubMed: Ouyang 2017 - rs5923428 Germline - - - - - LOVD
-?/. 1 2i c.116+21312C>A r.(=) p.(=) - - likely benign g.85261183G>T - c.116+21312C>A - CHM_000624 - PubMed: Ouyang 2017 - rs62607865 Germline - - - - - LOVD
+?/. 1 - c.117-331_314+251del r.spl p.(?) - - likely pathogenic g.85233522_85237146del g.85978518_85982142del CHM chrX:85233521_85237145del - CHM_000561 range 3624-7411 bp in various techniques, homozygous PubMed: Zampaglione-2020 - - Unknown ? - - - - LOVD
-?/. 1 2i c.117-12delT r.(=) p.(=) - - likely benign g.85236825delA - c.117-12delT - CHM_000623 - PubMed: Ouyang 2017 - - Germline - - - - - 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
+/., +?/. 2 2i c.117-1G>A r.spl, r.spl? p.? - - likely pathogenic, pathogenic g.85236814C>T g.85981810C>T c.117-1G>A - CHM_000486 - PubMed: Gao 2020 - - Germline - - - - - Kerry Goetz
+?/. 1 2i_3i c.117-1_189+1del r.spl? p.? - - likely pathogenic g.85236740_85236814del - Deletion of exon 3 - CHM_000649 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+?/. 1 2i_4i c.117-1_314+1del r.spl? p.? - - likely pathogenic g.85233770_85236814del - Deletion exon 3-4 - CHM_000648 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+?/. 1 2i_15 c.117-1_*3450del r.spl? p.? - - likely pathogenic g.85116185_85236814del - Deletion of exon 3-15 - CHM_000636 - PubMed: Dubis 2021 - - Germline - - - - - LOVD
+/. 1 2i_15 c.117-1_*3450+1del r.spl? p.? - - pathogenic g.85116184_85236814del - REP-1: E3-15 deletion - CHM_000586 - PubMed: Zhou 2017 - - Germline - - - - - LOVD
+/+ 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
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