All variants in the CLCN5 gene

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

282 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. 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 - - - 0 - Johan den Dunnen
+?/. - c.-47-433G>A r.(=) p.(=) - likely pathogenic g.49834101G>A g.50069446G>A - - CLCN5_000116 - - - - Unknown - - - 0 - Rosa Vargas-Poussou
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. _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 - - - 0 - Rosa Vargas-Poussou
+/. _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 - - - 0 - Rosa Vargas-Poussou
+/. _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 - - - 0 - Rosa Vargas-Poussou
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - g.50069896_50075809del - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - g.50069896_50075809del - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - g.50069896_50075809del - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - whole gene deletion - CLCN5_000000 - PubMed: Lloyd 1996 - - Germline yes - - 0 - Johan den Dunnen
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - - - CLCN5_000000 - PubMed: Akuta 1997 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - - - CLCN5_000000 - PubMed: Sekine 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 8 c.? r.(?) p.(Val363fs) - pathogenic g.(?) - Val363fs - CLCN5_000000 - PubMed: Cramer 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
?/. - 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
+?/. 2 c.82C>T r.(?) p.(Arg28*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 2 c.82C>T r.(?) p.(Arg28*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 2 c.82C>T r.(?) p.(Arg28*) - pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 2 c.82C>T r.(?) p.(Arg28*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Akuta 1997 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 2 c.82C>T r.(?) p.(Arg28*) - pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Dinour 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 2 c.82C>T r.(?) p.(Arg28*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Hoopes 1998 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 2 c.82C>T r.(?) p.(Arg28*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Matsuyama 2004 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 2 c.82C>T r.(?) p.(Arg28*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Sekine 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 2 c.82C>T r.(?) p.(Arg28*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Cramer 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 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 - - - 0 - Johan den Dunnen
+?/. 2 c.92del r.(?) p.(Asp31Valfs*17) - likely pathogenic g.49834672del g.50070017del - - CLCN5_000101 - PubMed: Fervenza 2013 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 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 - - - 0 - Rosa Vargas-Poussou
+?/. 2i c.106-17T>G r.(=) p.(=) - likely pathogenic g.49837127T>G g.50072472T>G - - CLCN5_000107 - PubMed: Forino 2004 - - De novo - - - 0 - Rosa Vargas-Poussou
-/. - c.106-17T>G r.(=) p.(=) - benign g.49837127T>G g.50072472T>G - - CLCN5_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - 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 - - - 0 - VKGL-NL_Leiden
+/. 3 c.166del r.(?) p.(Ser56Profs*5) - pathogenic g.49837204del g.50072549del - - CLCN5_000011 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. - c.169G>C r.(?) p.(Gly57Arg) - pathogenic g.49837207G>C g.50072552G>C - - CLCN5_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 3 c.170G>T r.(?) p.(Gly57Val) - pathogenic g.49837208G>T g.50072553G>T Gly57Val (GGC>GTC) - CLCN5_000076 - PubMed: Lloyd 1997 - - Germline yes - MspI 0 - Johan den Dunnen
+/. 3 c.170G>T r.(?) p.(Gly57Val) - pathogenic g.49837208G>T g.50072553G>T Gly57Val - CLCN5_000076 - PubMed: Schurman 1998, OMIM:var0011 - rs151340629 Germline yes - - 0 - Johan den Dunnen
+/. 3 c.173G>T r.(?) p.(Trp58Leu) - pathogenic g.49837211G>T g.50072556G>T 464G>T - CLCN5_000081 - PubMed: Tosetto 2009 - - Germline yes - - 0 - Johan den Dunnen
+?/. 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 - - - 0 - Rosa Vargas-Poussou
+?/. 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 - - - 0 - Rosa Vargas-Poussou
+?/. 4 c.308G>A r.(?) p.(Trp103*) - likely pathogenic g.49840552G>A g.50075897G>A - - CLCN5_000013 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 4 c.309G>A r.(?) p.(Trp103*) - likely pathogenic g.49840553G>A g.50075898G>A - - CLCN5_000014 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
?/. - c.344A>G r.(?) p.(Lys115Arg) - 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 - - - 0 - VKGL-NL_Leiden
-?/. - c.344A>G r.(?) p.(Lys115Arg) - likely benign 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_Rotterdam
+/. 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 - 0 - Lucy Raymond
+/. 4i c.393+4A>G r.spl p.? - pathogenic g.49840641A>G g.50075986A>G IVS4+4A>G - CLCN5_000092 - PubMed: Tosetto 2009 - - Unknown - - - 0 - Johan den Dunnen
?/. 4i c.394-110del r.(=) p.(=) - VUS g.49845141del g.50080484del - - CLCN5_000097 - - - - Germline - - - 0 - Yu Sun
?/. 4i c.394-110del r.(=) p.(=) - VUS g.49845141del g.50080484del - - CLCN5_000097 - - - - Germline - - - 0 - Yu Sun
+?/. 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 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 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 - - Germline - - - 0 - Rosa Vargas-Poussou
+?/. 4i c.394-2A>G r.spl p.? - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 - PubMed: Sekine 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 4i c.394-2A>G r.spl p.? - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 - PubMed: Zhu 2010 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 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 - - 0 - Johan den Dunnen
+/. 5 c.403_404del r.(?) p.(Ala135Leufs*37) - pathogenic g.49845260_49845261del g.50080603_50080604del - - CLCN5_000015 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
?/. - 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
+/. 5 c.410dup r.(?) p.(Val138Serfs*35) - pathogenic g.49845267dup g.50080610dup - - CLCN5_000016 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
-?/. - 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
+?/. 5 c.438G>A r.(?) p.(Trp146*) - likely pathogenic g.49845295G>A g.50080638G>A - - CLCN5_000017 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 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 0 - Johan den Dunnen
+/. 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 0 - Johan den Dunnen
+?/. - 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
+?/. 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 - - - 0 - Rosa Vargas-Poussou
+/. 6 c.536G>A r.(?) p.(Gly179Asp) - pathogenic g.49846317G>A g.50081660G>A - - CLCN5_000019 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 6 c.536G>A r.(?) p.(Gly179Asp) - pathogenic g.49846317G>A g.50081660G>A - - CLCN5_000019 - PubMed: Grand 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.574del r.(?) p.(Val192LeufsTer15) - pathogenic g.49846355del g.50081698del 865delG - CLCN5_000082 - PubMed: Tosetto 2009 - - Unknown - - - 0 - Johan den Dunnen
+/. 6 c.597_598dup r.(?) p.(Leu200Argfs*8) - pathogenic g.49846378_49846379dup g.50081721_50081722dup - - CLCN5_000020 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 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 0 - Johan den Dunnen
+/. 6 c.608C>A r.(?) p.(Ser203*) - pathogenic g.49846389C>A g.50081732C>A - - CLCN5_000021 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 6 c.608C>A r.(?) p.(Ser203*) - pathogenic g.49846389C>A g.50081732C>A - - CLCN5_000021 - PubMed: Blanchard 2008 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.608C>T r.(?) p.(Ser203Leu) - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.608C>T r.(?) p.(Ser203Leu) - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Grand 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.608C>T r.(?) p.(Ser203Leu) - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Park 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.608C>T r.(?) p.(Ser203Leu) - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Sekine 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.635G>C r.(?) p.(Gly212Ala) - pathogenic g.49846416G>C g.50081759G>C - - CLCN5_000023 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 6 c.635G>C r.(?) p.(Gly212Ala) - pathogenic g.49846416G>C g.50081759G>C - - CLCN5_000023 - PubMed: Grand 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.635G>C r.(?) p.(Gly212Ala) - pathogenic g.49846416G>C g.50081759G>C - - CLCN5_000023 - PubMed: Grand 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.635G>C r.(?) p.(Gly212Ala) - pathogenic g.49846416G>C g.50081759G>C - - CLCN5_000023 - PubMed: Grand 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49846442T>C g.50081785T>C - - CLCN5_000024 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49846442T>C g.50081785T>C - - CLCN5_000024 - PubMed: Hoopes 2004 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49846442T>C g.50081785T>C - - CLCN5_000024 - PubMed: Ludwig 2005 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Dinour 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Li 2009 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Ludwig 2005 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Ramos-Trujillo 2007 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Tosetto 2006 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.661T>C r.(?) p.(Cys221Arg) - pathogenic g.49853406C>T - - - CLCN5_000041 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Zhu 2010 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 6 c.681_682del r.(?) p.(His227Glnfs*9) - pathogenic g.49846462_49846463del g.50081805_50081806del - - CLCN5_000025 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 6 c.692A>T r.(?) p.(Lys231Ile) - likely pathogenic g.49846473A>T g.50081816A>T - - CLCN5_000026 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 6 c.699del r.(?) p.(Lys234Argfs*20) - pathogenic g.49846480del g.50081823del - - CLCN5_000027 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+?/. 6 c.716G>C r.(?) p.(Arg239Pro) - likely pathogenic g.49846497G>C g.50081840G>C - - CLCN5_000028 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 6 c.721G>T r.(?) p.(Glu241*) - likely pathogenic g.49846502G>T g.50081845G>T - - CLCN5_000029 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+?/. 6i c.723+1G>A r.spl? p.? - likely pathogenic g.49846505G>A g.50081848G>A - - CLCN5_000103 - PubMed: Cramer 2014 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 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) - - - 0 - Pieter Klap
+?/. 6i c.724-35T>G r.(=) p.(=) - likely pathogenic g.49850602T>G g.50085945T>G - - CLCN5_000109 - - - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 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 - - - 0 - Rosa Vargas-Poussou
+?/. 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 - - Unknown - - - 0 - Rosa Vargas-Poussou
+?/. 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 - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - De novo - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T - - CLCN5_000005 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - 0 - Rosa Vargas-Poussou
+/. 7 c.731C>T r.(?) p.(Ser244Leu) - pathogenic g.49850644C>T g.50085987C>T Ser244Leu (TCG>TTG) - CLCN5_000005 - PubMed: Lloyd 1996, OMIM:var0007 - rs151340626 Germline yes - - 0 - Rosa Vargas-Poussou
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