Unique variants in the CLCN5 gene

Information The variants shown are described using the NM_000084.4 transcript reference sequence.

154 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.-25458A>G r.(?) p.(=) - VUS g.49807005A>G g.50042396A>G CLCN5(NM_001127899.3):c.97A>G (p.I33V) - CLCN5_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.-189G>A r.spl? p.(=) - pathogenic g.49832274G>A g.50067619G>A -480G>A - CLCN5_000095 not in 471 control chromosomes PubMed: Tosetto 2009 - - Unknown - - - - - Johan den Dunnen
+?/. 1 - c.-47-433G>A r.(=) p.(=) - likely pathogenic g.49834101G>A g.50069446G>A - - CLCN5_000116 - - - - Unknown - - - - - Rosa Vargas-Poussou
-?/. 1 - c.-47-140T>C r.(=) p.(=) - likely benign g.49834394T>C g.50069739T>C CLCN5(NM_001282163.1):c.8T>C (p.L3P) - CLCN5_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 _2_2i c.(?_-1)_(105+1_106-1)del r.0? p.0? - pathogenic g.(?_49834580)_(49834686_49837143)del - - - CLCN5_000008 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. 1 _2_3i c.(?_-1)_(205+1_206-1)del r.0? p.0? - pathogenic g.(?_49834580)_(49837244_49840449)del - - - CLCN5_000117 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. 1 _2_4i c.(?_-1)_(393+1_394-1)del r.0? p.0? - pathogenic g.(?_49834580)_(49840638_49845250)del - - - CLCN5_000009 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. 6 _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - g.50069896_50075809del, whole gene deletion - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Akuta 1997, PubMed: Lloyd 1996, PubMed: Mansour-Hendili et al. 2015, PubMed: Sekine 2014 - - Germline, Unknown yes - - - - Johan den Dunnen, Rosa Vargas-Poussou
+/. 1 8 c.? r.(?) p.(Val363fs) - pathogenic g.(?) - Val363fs - CLCN5_000000 - PubMed: Cramer 2014 - - Unknown - - - - - Rosa Vargas-Poussou
?/. 1 - c.42T>G r.(?) p.(Tyr14Ter) - VUS g.49834622T>G g.50069967T>G CLCN5(NM_001127899.3):c.252T>G (p.Y84*) - CLCN5_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 9 2 c.82C>T r.(?) p.(Arg28*) - likely pathogenic, pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Akuta 1997, PubMed: Cramer 2014, PubMed: Dinour 2009, PubMed: Hoopes 1998, PubMed: Sekine 2014, 2 more items - - Germline, Unknown - - - - - Rosa Vargas-Poussou
+/. 1 2 c.87_88insAAC r.(?) p.(Asp29_Arg30insHis) - pathogenic g.49834667_49834668insAAC g.50070012_50070013insAAC AAC in frame 30:H - CLCN5_000075 - PubMed: Lloyd 1997 - - Germline - - - - - Johan den Dunnen
+?/. 1 2 c.92del r.(?) p.(Asp31Valfs*17) - likely pathogenic g.49834672del g.50070017del - - CLCN5_000101 - PubMed: Fervenza 2013 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. 1 2 c.105G>A r.spl? p.(Glu35=) - likely pathogenic g.49834685G>A g.50070030G>A Glu353Glu - CLCN5_000010 splicing effect PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+?/., -/. 2 2i c.106-17T>G r.(=) p.(=) - benign, likely pathogenic g.49837127T>G g.50072472T>G - - CLCN5_000107 VKGL data sharing initiative Nederland PubMed: Forino 2004 - - CLASSIFICATION record, De novo - - - - - Rosa Vargas-Poussou, VKGL-NL_Nijmegen
?/. 1 - c.122A>G r.(?) p.(Lys41Arg) - VUS g.49837160A>G g.50072505A>G CLCN5(NM_000084.2):c.122A>G (p.(Lys41Arg)) - CLCN5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 3 c.166del r.(?) p.(Ser56Profs*5) - pathogenic g.49837204del g.50072549del - - CLCN5_000011 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. 1 - c.169G>C r.(?) p.(Gly57Arg) - pathogenic g.49837207G>C g.50072552G>C - - CLCN5_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 3 c.170G>T r.(?) p.(Gly57Val) - pathogenic g.49837208G>T g.50072553G>T Gly57Val, Gly57Val (GGC>GTC) - CLCN5_000076 - PubMed: Lloyd 1997, PubMed: Schurman 1998, OMIM:var0011 - rs151340629 Germline yes - MspI - - Johan den Dunnen
+/. 1 3 c.173G>T r.(?) p.(Trp58Leu) - pathogenic g.49837211G>T g.50072556G>T 464G>T - CLCN5_000081 - PubMed: Tosetto 2009 - - Germline yes - - - - Johan den Dunnen
+?/. 1 3i c.206-6A>T r.(=) p.(=) - likely pathogenic g.49840444A>T g.50075789A>T - - CLCN5_000108 - PubMed: Mansour-Hendili et al. 2015 - rs6651602 Unknown - - - - - Rosa Vargas-Poussou
+?/. 1 3i c.206-1G>C r.spl p.? - likely pathogenic g.49840449G>C g.50075794G>C - - CLCN5_000012 Loss of splice acceptor site PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. 1 4 c.308G>A r.(?) p.(Trp103*) - likely pathogenic g.49840552G>A g.50075897G>A - - CLCN5_000013 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. 1 4 c.309G>A r.(?) p.(Trp103*) - likely pathogenic g.49840553G>A g.50075898G>A - - CLCN5_000014 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
-?/., ?/. 2 - c.344A>G r.(?) p.(Lys115Arg) - likely benign, VUS g.49840588A>G g.50075933A>G CLCN5(NM_000084.2):c.344A>G (p.(Lys115Arg)), CLCN5(NM_001127899.3):c.554A>G (p.K185R) - CLCN5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 4 c.384C>G r.(?) p.(Ser128Arg) - pathogenic g.49840628C>G g.50075973C>G - - CLCN5_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
+/. 1 4i c.393+4A>G r.spl p.? - pathogenic g.49840641A>G g.50075986A>G IVS4+4A>G - CLCN5_000092 - PubMed: Tosetto 2009 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.393+6_393+7del r.(=) p.(=) - likely benign g.49840643_49840644del - CLCN5(NM_001127899.3):c.603+6_603+7delAT - CLCN5_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 4i c.394-110del r.(=) p.(=) - VUS g.49845141del g.50080484del - - CLCN5_000097 - - - - Germline - - - - - Yu Sun
+?/. 4 4i c.394-2A>G r.spl p.? - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 Loss of splice acceptor site PubMed: Mansour-Hendili et al. 2015, PubMed: Sekine 2014, PubMed: Zhu 2010 - - Germline, Unknown - - - - - Rosa Vargas-Poussou
+/. 1 - c.394-1G>C r.spl? p.? - pathogenic g.49845250G>C - - - CLCN5_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4i_6i c.(393+1_394-1)_(723+1_724-1)del r.394_723del p.Gly132_Glu241del - pathogenic g.(49840638_49845250)_(49846505_49850636)del - 2 kb deletion exons 5-6 - CLCN5_000071 - PubMed: Lloyd 1996 - - Germline yes - - - - Johan den Dunnen
+/. 1 5 c.403_404del r.(?) p.(Ala135Leufs*37) - pathogenic g.49845260_49845261del g.50080603_50080604del - - CLCN5_000015 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
?/. 1 - c.407A>G r.(?) p.(Tyr136Cys) - VUS g.49845264A>G g.50080607A>G CLCN5(NM_000084.2):c.407A>G (p.(Tyr136Cys)) - CLCN5_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 5 c.410dup r.(?) p.(Val138Serfs*35) - pathogenic g.49845267dup g.50080610dup - - CLCN5_000016 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
-?/. 1 - c.430G>A r.(?) p.(Val144Ile) - likely benign g.49845287G>A - CLCN5(NM_001127899.3):c.640G>A (p.V214I) - CLCN5_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 5 c.438G>A r.(?) p.(Trp146*) - likely pathogenic g.49845295G>A g.50080638G>A - - CLCN5_000017 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. 1 5i c.516+1G>A r.394_516del p.Gly132_Glu172del - pathogenic g.49845374G>A g.50080717G>A IVS5 gt>at - CLCN5_000070 - PubMed: Lloyd 1996 - - Germline yes - HphI - - Johan den Dunnen
+/. 1 5i c.516+2T>G r.394_516del p.Gly132_Glu172del - pathogenic g.49845375T>G g.50080718T>G IVS5 gt>gg - CLCN5_000069 - PubMed: Lloyd 1996 - - Germline yes - HphI - - Johan den Dunnen
+?/. 1 - c.516+5G>C r.spl? p.? - likely pathogenic g.49845378G>C g.50080721G>C - - CLCN5_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 5i c.517-8A>G r.spl p.(=) - likely pathogenic g.49846290A>G g.50081633A>G - - CLCN5_000018 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. 2 6 c.536G>A r.(?) p.(Gly179Asp) - pathogenic g.49846317G>A g.50081660G>A - - CLCN5_000019 - PubMed: Grand 2009, PubMed: Mansour-Hendili et al. 2015 - - Germline, Unknown - - - - - Rosa Vargas-Poussou
+/. 1 6 c.574del r.(?) p.(Val192LeufsTer15) - pathogenic g.49846355del g.50081698del 865delG - CLCN5_000082 - PubMed: Tosetto 2009 - - Unknown - - - - - Johan den Dunnen
+/. 1 6 c.597_598dup r.(?) p.(Leu200Argfs*8) - pathogenic g.49846378_49846379dup g.50081721_50081722dup - - CLCN5_000020 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. 1 6 c.599T>G r.(?) p.(Leu200Arg) - pathogenic g.49846380T>G g.50081723T>G Leu200Arg (CTG>CGG) - CLCN5_000066 - PubMed: Lloyd 1996, OMIM:var0003 - rs151340622 Germline yes - AciI - - Johan den Dunnen
+/. 2 6 c.608C>A r.(?) p.(Ser203*) - pathogenic g.49846389C>A g.50081732C>A - - CLCN5_000021 - PubMed: Blanchard 2008, PubMed: Mansour-Hendili et al. 2015 - - Germline, Unknown - - - - - Rosa Vargas-Poussou
+/. 4 6 c.608C>T r.(?) p.(Ser203Leu) - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Grand 2009, PubMed: Mansour-Hendili et al. 2015, PubMed: Park 2014, PubMed: Sekine 2014 - - Unknown - - - - - Rosa Vargas-Poussou
+/. 4 6 c.635G>C r.(?) p.(Gly212Ala) - pathogenic g.49846416G>C g.50081759G>C - - CLCN5_000023 - PubMed: Grand 2009, PubMed: Mansour-Hendili et al. 2015 - - Germline, Unknown - - - - - Rosa Vargas-Poussou
+/. 9 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49846442T>C, g.49853406C>T g.50081785T>C - - CLCN5_000024, CLCN5_000041 1 more item PubMed: Dinour 2009, PubMed: Hoopes 2004, PubMed: Li 2009, PubMed: Ludwig 2005, PubMed: Tosetto 2006, 3 more items - - Germline, Unknown - - - - - Rosa Vargas-Poussou
+/. 1 6 c.681_682del r.(?) p.(His227Glnfs*9) - pathogenic g.49846462_49846463del g.50081805_50081806del - - CLCN5_000025 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. 1 6 c.692A>T r.(?) p.(Lys231Ile) - likely pathogenic g.49846473A>T g.50081816A>T - - CLCN5_000026 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. 1 6 c.699del r.(?) p.(Lys234Argfs*20) - pathogenic g.49846480del g.50081823del - - CLCN5_000027 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+?/. 1 6 c.716G>C r.(?) p.(Arg239Pro) - likely pathogenic g.49846497G>C g.50081840G>C - - CLCN5_000028 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. 1 6 c.721G>T r.(?) p.(Glu241*) - likely pathogenic g.49846502G>T g.50081845G>T - - CLCN5_000029 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+?/. 1 6i c.723+1G>A r.spl? p.? - likely pathogenic g.49846505G>A g.50081848G>A - - CLCN5_000103 - PubMed: Cramer 2014 - - Unknown - - - - - Rosa Vargas-Poussou
+/. 1 6i c.723+2T>C r.0 p.0 - pathogenic (recessive) g.49846506T>C g.50081849T>C - - CLCN5_000119 - PubMed: Ji 2014, Journal: Ji 2014 - - Germline/De novo (untested) - - - - - Pieter Klap
+?/. 1 6i c.724-35T>G r.(=) p.(=) - likely pathogenic g.49850602T>G g.50085945T>G - - CLCN5_000109 - - - - Unknown - - - - - Rosa Vargas-Poussou
+?/. 2 6i c.724-2A>G r.spl p.? - likely pathogenic g.49850635A>G g.50085978A>G - - CLCN5_000030 Loss of splice acceptor site PubMed: Mansour-Hendili et al. 2015 - - Germline, Unknown - - - - - Rosa Vargas-Poussou
+?/. 1 6i c.724-1G>A r.(?) p.(?) - likely pathogenic g.49850636G>A g.50085979G>A - - CLCN5_000031 Loss of splice acceptor site PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. 15 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T Ser244Leu (TCG>TTG) - CLCN5_000005 VKGL data sharing initiative Nederland PubMed: Anglani 2006, PubMed: Hoopes 1998, PubMed: Hoopes 2004, PubMed: Kelleher 1998, 6 more items - rs151340626 CLASSIFICATION record, De novo, Germline, Unknown yes - - - - Johan den Dunnen, Rosa Vargas-Poussou, VKGL-NL_Nijmegen
+?/. 1 7 c.748G>C r.(?) p.(Gly250Arg) - likely pathogenic g.49850661G>C g.50086004G>C - - CLCN5_000032 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. 1 - c.773C>G r.(?) p.(Pro258Arg) - likely pathogenic g.49850686C>G g.50086029C>G CLCN5(NM_001127899.3):c.983C>G (p.P328R) - CLCN5_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 7 c.773delinsGGAA r.(?) p.(Pro258delinsArgAsn) - pathogenic g.49850686delinsGGAA g.50086029delinsGGAA - - CLCN5_000033 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. 1 7 c.779G>T r.(?) p.(Gly260Val) - pathogenic g.49850692G>T g.50086035G>T 1070G>Y (Gly260Val) - CLCN5_000080 - PubMed: Tosetto 2006, OMIM:var0013 - rs151340630 Germline - 1/25 case - - - Johan den Dunnen
+/. 1 7 c.780del r.(?) p.(Gly261Glufs*98) - pathogenic g.49850693del g.50086036del - - CLCN5_000034 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. 1 7 c.781G>A r.(?) p.(Gly261Arg) - pathogenic g.49850694G>A g.50086037G>A 1072G>A - CLCN5_000083 - PubMed: Tosetto 2009 - - Unknown - - - - - Johan den Dunnen
+/+ 1 7 c.782G>A r.782G>A p.(Gly261Glu) ACMG pathogenic g.49850695G>A g.50086038G>A - - CLCN5_000147 - PubMed: Bogdanovic 2010 - - De novo - - - - - Rosa Vargas-Poussou
+/. 1 7 c.782_784del r.(?) p.(Gly261del) - pathogenic g.49850695_49850697del g.50086038_50086040del 1072_1074del - CLCN5_000084 - PubMed: Tosetto 2009 - - Unknown - - - - - Johan den Dunnen
+?/+? 1 7 c.796C>G r.796C>G p.(Leu266Ala) ACMG likely pathogenic g.49850709C>G - - - CLCN5_000148 - PubMed: Sekine 2014 - - Germline - - - - - Rosa Vargas-Poussou
./. 1 7 c.799G>A r.799G>A p.(Glu267Lys) ACMG likely pathogenic g.49850712G>A - - - CLCN5_000149 - PubMed: Ashton 2018 - - Germline/De novo (untested) - - - - - Rosa Vargas-Poussou
+?/. 1 7 c.801A>C r.(?) p.(Glu267Asp) - likely pathogenic g.49850714A>C g.50086057A>C - - CLCN5_000035 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+?/+? 1 8 c.808A>G r.808A>G p.(Ser270Gly) ACMG likely pathogenic g.49850988A>G - - - CLCN5_000150 - PubMed: Hoopes 2004 - - Germline/De novo (untested) ? - - - - Rosa Vargas-Poussou
+?/. 1 7 c.810C>G r.(?) p.(Ser270Arg) - likely pathogenic g.49850990C>G g.50086333C>G - - CLCN5_000036 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+?/+? 1 8 c.814T>A r.814T>A p.(Tyr272Asn) ACMG pathogenic g.49850994T>A - - - CLCN5_000151 - PubMed: Sekine 2014 - - Germline/De novo (untested) - - - - - Rosa Vargas-Poussou
?/. 1 - c.815A>G r.(?) p.(Tyr272Cys) - VUS g.49850995A>G g.50086338A>G - - CLCN5_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 8 c.830_832dup r.(?) p.(Thr277_Leu278insSer) - pathogenic g.49851010_49851012dup g.50086353_50086355dup 1123_1124insCAT - CLCN5_000085 - PubMed: Tosetto 2009 - - Germline yes - - - - Johan den Dunnen
+/. 3 8 c.837G>A r.(?) p.(Trp279*) - pathogenic g.49851017G>A g.50086360G>A Trp279X (TGG>TGA), W279X (TGG>TGA) - CLCN5_000098 - PubMed: Lloyd 1996, OMIM:var0001, PubMed: Lloyd 1997, OMIM:var0001 - rs151340620 Germline yes - MaeIII - - Johan den Dunnen
+/. 1 8 c.839G>C r.(?) p.(Arg280Pro) - pathogenic g.49851019G>C g.50086362G>C R280P (CGT>CCT) - CLCN5_000072 - PubMed: Lloyd 1997, OMIM:var0010 - - Germline yes - HaeIII - - Johan den Dunnen
?/. 1 - c.844T>C r.(?) p.(Phe282Leu) - VUS g.49851024T>C g.50086367T>C - - CLCN5_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.904C>T r.(?) p.(Arg302Cys) - VUS g.49851084C>T g.50086427C>T CLCN5(NM_000084.2):c.904C>T (p.(Arg302Cys)) - CLCN5_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 3 8 c.993G>C r.(=) p.(=) - - g.49851173G>C g.50086516G>C - - CLCN5_000099 - PubMed: Mansour-Hendili et al. 2015 - rs34122840 Unknown - - - - - Rosa Vargas-Poussou
?/. 1 - c.1012C>T r.(?) p.(Arg338Cys) - VUS g.49851192C>T g.50086535C>T - - CLCN5_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 8 c.1028G>A r.(?) p.(Trp343*) - pathogenic g.49851208G>A g.50086551G>A W343X (TGG>TAG) - CLCN5_000073 - PubMed: Lloyd 1997, OMIM:var0008 - - Germline yes - EcoRII - - Johan den Dunnen
-?/., ?/. 2 - c.1034G>A r.(?) p.(Arg345Gln) - likely benign, VUS g.49851214G>A g.50086557G>A CLCN5(NM_000084.2):c.1034G>A (p.(Arg345Gln)), CLCN5(NM_001127899.3):c.1244G>A (p.R415Q) - CLCN5_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/., ?/. 13 8 c.1039C>T r.(?) p.(Arg347*), p.(Arg347Ter) - pathogenic, VUS g.49851219C>T g.50086562C>T - - CLCN5_000037 VKGL data sharing initiative Nederland PubMed: Akuta 1997, PubMed: Besbas 2005, PubMed: Hoopes 2004, PubMed: Ludwig 2005, PubMed: Sekine 2014, 4 more items - - CLASSIFICATION record, Germline, Unknown - - - - - Rosa Vargas-Poussou, VKGL-NL_Nijmegen
?/. 1 - c.1106T>C r.(?) p.(Ile369Thr) - VUS g.49851286T>C g.50086629T>C - - CLCN5_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 8 c.1157C>T r.(?) p.(Ser386Phe) - likely benign g.49851337C>T g.50086680C>T 1448C>T - CLCN5_000096 not in 311 control chromosomes PubMed: Tosetto 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 8 c.1160_1161dup r.(?) p.(Leu388fs) - pathogenic g.49851340_49851341dup g.50086683_50086684dup 1552_1553insAG (L388SfsX434) - CLCN5_000086 - PubMed: Tosetto 2009 - - Unknown - - - - - Johan den Dunnen
+?/. 1 8 c.1210G>T r.(?) p.(Glu404*) - likely pathogenic g.49851390G>T g.50086733G>T - - CLCN5_000038 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
-?/. 1 - c.1217G>A r.(?) p.(Arg406His) - likely benign g.49851397G>A g.50086740G>A CLCN5(NM_000084.2):c.1217G>A (p.(Arg406His)) - CLCN5_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 8 c.1288C>T r.(?) p.(Gln430*) - likely pathogenic g.49851468C>T g.50086811C>T - - CLCN5_000039 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. 1 8i c.1347+1G>T r.1058_1347del p.Gly353fs - pathogenic g.49851528G>T g.50086871G>T IVS8+1G>T - CLCN5_000093 - PubMed: Tosetto 2009, OMIM:var0014 - - Unknown - - - - - Johan den Dunnen
+?/. 5 8i c.1348-14G>C r.(=) p.(=) - likely pathogenic g.49853341G>C g.50088684G>C - - CLCN5_000110 - PubMed: Mansour-Hendili et al. 2015 - rs7063765 Unknown - - - - - Rosa Vargas-Poussou
+/. 1 8i c.1348-2del r.spl p.? - pathogenic g.49853353del g.50088696del - - CLCN5_000040 Loss of splice acceptor site PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. 1 - c.1385G>A r.(?) p.(Gly462Asp) - pathogenic g.49853392G>A g.50088735G>A CLCN5(NM_000084.4):c.1385G>A (p.G462D) - CLCN5_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 9 c.1399C>T r.(?) p.(Arg467*), p.(Arg467Ter) - pathogenic g.49853406C>T g.50088749C>T - - CLCN5_000041 VKGL data sharing initiative Nederland PubMed: Mansour-Hendili et al. 2015 - - CLASSIFICATION record, Unknown - - - - - Rosa Vargas-Poussou, VKGL-NL_Nijmegen
+/. 3 9 c.1406T>C r.(?) p.(Leu469Pro) - pathogenic g.49853413T>C g.50088756T>C - - CLCN5_000042 - PubMed: Grand 2009, PubMed: Lee 2009, PubMed: Mansour-Hendili et al. 2015 - - Germline, Unknown - - - - - Rosa Vargas-Poussou
+?/. 2 9 c.1408G>A r.(?) p.(Gly470Arg) - likely pathogenic g.49853415G>A g.50088758G>A - - CLCN5_000043, CLCN5_000044 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
?/. 1 - c.1408G>C r.(?) p.(Gly470Arg) - VUS g.49853415G>C g.50088758G>C - - CLCN5_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 9 c.1452C>T r.(=) p.(=) - likely benign g.49853459C>T g.50088802C>T - - CLCN5_000104 - PubMed: Akuta 1997 - - Unknown - - - - - Rosa Vargas-Poussou
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