All variants in the CLCN5 gene

Information The variants shown are described using the NM_001127898.3 transcript reference sequence.

324 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

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     
+/. _1_15_ c.-382_*7016{0} 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 - - - - - Rosa Vargas-Poussou
+/. _1_15_ c.-382_*7016{0} 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 - - - - - Rosa Vargas-Poussou
+/. _1_15_ c.-382_*7016{0} 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 - - - - - Rosa Vargas-Poussou
+/. _1_15_ c.-382_*7016{0} r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - whole gene deletion - CLCN5_000000 - PubMed: Lloyd 1996 - - Germline yes - - - - Johan den Dunnen
+/. _1_15_ c.-382_*7016{0} r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - - - CLCN5_000000 - PubMed: Akuta 1997 - - Unknown - - - - - Rosa Vargas-Poussou
+/. _1_15_ c.-382_*7016{0} r.0 p.0 - pathogenic g.(?_49834580)_(49856877_?)del - - - CLCN5_000000 - PubMed: Sekine 2014 - - Unknown - - - - - Rosa Vargas-Poussou
+/. _5_5i c.-382_(315+1_316-1)del r.0? p.0? - pathogenic g.(?_49834580)_(49834686_49837143)del - - - CLCN5_000008 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. _5_6i c.-382_(415+1_416-1)del r.0? p.0? - pathogenic g.(?_49834580)_(49837244_49840449)del - - - CLCN5_000117 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. _5_7i c.-382_(603+1_604-1)del r.0? p.0? - pathogenic g.(?_49834580)_(49840638_49845250)del - - - CLCN5_000009 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
?/. - c.-205+33dup r.(=) p.(=) - VUS g.49687435dup - - - chrX_001623 - - - - Germline - - - - - Yu Sun
?/. - c.-205+33dup r.(=) p.(=) - VUS g.49687435dup - - - chrX_002491 - - - - Germline - - - - - Yu Sun
?/. - c.-205+33dup r.(=) p.(=) - VUS g.49687435dup - - - chrX_001623 - - - - Germline - - - - - Yu Sun
?/. - c.-205+33dup r.(=) p.(=) - VUS g.49687435dup - - - chrX_002491 - - - - Germline - - - - - Yu Sun
?/. - c.-205+214T>C r.(=) p.(=) - VUS g.49687616T>C - - - chrX_001636 - - - - Germline - - - - - Yu Sun
+/. 11 c.? r.(?) p.? - pathogenic g.(?) - Val363fs - CLCN5_000000 - PubMed: Cramer 2014 - - Unknown - - - - - Rosa Vargas-Poussou
?/. - c.97A>G r.(?) p.(Ile33Val) - 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
?/. - c.147A>C r.(?) p.(Leu49Phe) - VUS g.49807055A>C - CLCN5(NM_001127899.3):c.147A>C (p.L49F) - CLCN5_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.164-2260G>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
+?/. - c.164-433G>A r.(?) p.(=) - likely pathogenic g.49834101G>A g.50069446G>A - - CLCN5_000116 - - - - Unknown - - - - - Rosa Vargas-Poussou
-?/. - c.164-140T>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
-?/. - c.164-6A>T r.(=) p.(=) - likely benign g.49834528A>T - CLCN5(NM_001127899.3):c.164-6A>T - CLCN5_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.167A>G r.(?) p.(Asp56Gly) - likely benign g.49834537A>G - CLCN5(NM_001127899.3):c.167A>G (p.D56G) - CLCN5_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.221del r.(?) p.(Leu74Trpfs*8) - pathogenic g.49834591del - CLCN5(NM_000084.5):c.11delT (p.L4Wfs*8) - CLCN5_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.252T>G r.(?) p.(Tyr84Ter) - 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
+?/. - c.292C>T r.(?) p.(Arg98*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. - c.292C>T r.(?) p.(Arg98*) - pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Akuta 1997 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.292C>T r.(?) p.(Arg98*) - pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Dinour 2009 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Hoopes 1998 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Matsuyama 2004 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Sekine 2014 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Cramer 2014 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.297_298insAAC r.(?) p.(Asp99_Arg100insAsn) - pathogenic g.49834667_49834668insAAC g.50070012_50070013insAAC AAC in frame 30:H - CLCN5_000075 - PubMed: Lloyd 1997 - - Germline - - - - - Johan den Dunnen
+?/. - c.302del r.(?) p.(Asp101Valfs*17) - likely pathogenic g.49834672del g.50070017del - - CLCN5_000101 - PubMed: Fervenza 2013 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. p.(=) c.315G>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
+?/. - c.316-17T>G r.(?) p.(=) - likely pathogenic g.49837127T>G g.50072472T>G - - CLCN5_000107 - PubMed: Forino 2004 - - De novo - - - - - Rosa Vargas-Poussou
-/. - c.316-17T>G r.(=) p.(=) - benign g.49837127T>G g.50072472T>G - - CLCN5_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.318del r.(?) p.(Thr107Profs*11) - pathogenic g.49837146del - CLCN5(NM_000084.5):c.108delT (p.T37Pfs*11) - CLCN5_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.332A>G r.(?) p.(Lys111Arg) - 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
+/. - c.376del r.(?) p.(Ser126Profs*5) - pathogenic g.49837204del g.50072549del - - CLCN5_000011 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. - c.379G>C r.(?) p.(Gly127Arg) - pathogenic g.49837207G>C g.50072552G>C - - CLCN5_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.380G>T r.(?) p.(Gly127Val) - pathogenic g.49837208G>T g.50072553G>T Gly57Val (GGC>GTC) - CLCN5_000076 - PubMed: Lloyd 1997 - - Germline yes - MspI - - Johan den Dunnen
+/. - c.380G>T r.(?) p.(Gly127Val) - pathogenic g.49837208G>T g.50072553G>T Gly57Val - CLCN5_000076 - PubMed: Schurman 1998, OMIM:var0011 - rs151340629 Germline yes - - - - Johan den Dunnen
+/. - c.383G>T r.(?) p.(Trp128Leu) - pathogenic g.49837211G>T g.50072556G>T 464G>T - CLCN5_000081 - PubMed: Tosetto 2009 - - Germline yes - - - - Johan den Dunnen
+?/. - c.416-6A>T r.(?) p.(=) - likely pathogenic g.49840444A>T g.50075789A>T - - CLCN5_000108 - PubMed: Mansour-Hendili et al. 2015 - rs6651602 Unknown - - - - - Rosa Vargas-Poussou
-?/. - c.416-6A>T r.(=) p.(=) - likely benign g.49840444A>T - CLCN5(NM_000084.2):c.206-6A>T (p.(=)), CLCN5(NM_000084.5):c.206-6A>T - CLCN5_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.416-6A>T r.(=) p.(=) - benign g.49840444A>T - CLCN5(NM_000084.2):c.206-6A>T (p.(=)), CLCN5(NM_000084.5):c.206-6A>T - CLCN5_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.416-1G>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
+?/. - c.518G>A r.(?) p.(Trp173*) - likely pathogenic g.49840552G>A g.50075897G>A - - CLCN5_000013 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. - c.519G>A r.(?) p.(Trp173*) - likely pathogenic g.49840553G>A g.50075898G>A - - CLCN5_000014 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
?/. - c.554A>G r.(?) p.(Lys185Arg) - VUS g.49840588A>G g.50075933A>G CLCN5(NM_000084.2):c.344A>G (p.(Lys115Arg)), CLCN5(NM_000084.5):c.344A>G (p.K115R), CLCN5(NM_001127899.3):c.554A>G (p.K185R) - CLCN5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.554A>G r.(?) p.(Lys185Arg) - likely benign g.49840588A>G g.50075933A>G CLCN5(NM_000084.2):c.344A>G (p.(Lys115Arg)), CLCN5(NM_000084.5):c.344A>G (p.K115R), CLCN5(NM_001127899.3):c.554A>G (p.K185R) - CLCN5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.554A>G r.(?) p.(Lys185Arg) - likely benign g.49840588A>G - CLCN5(NM_000084.2):c.344A>G (p.(Lys115Arg)), CLCN5(NM_000084.5):c.344A>G (p.K115R), CLCN5(NM_001127899.3):c.554A>G (p.K185R) - CLCN5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.594C>G r.(?) p.(Ser198Arg) - pathogenic g.49840628C>G g.50075973C>G - - CLCN5_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
+/. - c.603+4A>G r.spl p.? - pathogenic g.49840641A>G g.50075986A>G IVS4+4A>G - CLCN5_000092 - PubMed: Tosetto 2009 - - Unknown - - - - - Johan den Dunnen
-?/. - c.603+6_603+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
?/. - c.604-110del r.(=) p.(=) - VUS g.49845141del g.50080484del - - CLCN5_000097 - - - - Germline - - - - - Yu Sun
?/. - c.604-110del r.(=) p.(=) - VUS g.49845141del g.50080484del - - CLCN5_000097 - - - - Germline - - - - - Yu Sun
-?/. - c.604-8T>C r.(=) p.(=) - likely benign g.49845243T>C - CLCN5(NM_000084.5):c.394-8T>C - CLCN5_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.604-2A>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 - - - - - Rosa Vargas-Poussou
+?/. - c.604-2A>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 - - - - - Rosa Vargas-Poussou
+?/. - c.604-2A>G r.spl p.? - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 - PubMed: Sekine 2014 - - Unknown - - - - - Rosa Vargas-Poussou
+?/. - c.604-2A>G r.spl p.? - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 - PubMed: Zhu 2010 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.604-1G>C r.spl? p.? - pathogenic g.49845250G>C - - - CLCN5_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 4i_6i c.(603+1_604-1)_(933+1_934-1)del r.604_933del 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
+/. - c.613_614del r.(?) p.(Ala205Leufs*37) - pathogenic g.49845260_49845261del g.50080603_50080604del - - CLCN5_000015 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
?/. - c.617A>G r.(?) p.(Tyr206Cys) - 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
+/. - c.620dup r.(?) p.(Val208Serfs*35) - pathogenic g.49845267dup g.50080610dup - - CLCN5_000016 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
-/. - c.636G>A r.(?) p.(Met212Ile) - benign g.49845283G>A - CLCN5(NM_000084.5):c.426G>A (p.M142I) - CLCN5_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.640G>A r.(?) p.(Val214Ile) - 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
+?/. - c.648G>A r.(?) p.(Trp216*) - likely pathogenic g.49845295G>A g.50080638G>A - - CLCN5_000017 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.726+1G>A r.604_726del p.Gly132_Glu172del - pathogenic g.49845374G>A g.50080717G>A IVS5 gt>at - CLCN5_000070 - PubMed: Lloyd 1996 - - Germline yes - HphI - - Johan den Dunnen
+/. - c.726+2T>G r.604_726del p.Gly132_Glu172del - pathogenic g.49845375T>G g.50080718T>G IVS5 gt>gg - CLCN5_000069 - PubMed: Lloyd 1996 - - Germline yes - HphI - - Johan den Dunnen
+?/. - c.726+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
+?/. - c.727-8A>G r.spl p.? - likely pathogenic g.49846290A>G g.50081633A>G - - CLCN5_000018 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. - c.746G>A r.(?) p.(Gly249Asp) - pathogenic g.49846317G>A g.50081660G>A - - CLCN5_000019 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. - c.746G>A r.(?) p.(Gly249Asp) - pathogenic g.49846317G>A g.50081660G>A - - CLCN5_000019 - PubMed: Grand 2009 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.784del r.(?) p.(Val262Leufs*15) - pathogenic g.49846355del g.50081698del 865delG - CLCN5_000082 - PubMed: Tosetto 2009 - - Unknown - - - - - Johan den Dunnen
+/. - c.807_808dup r.(?) p.(Leu270Argfs*8) - pathogenic g.49846378_49846379dup g.50081721_50081722dup - - CLCN5_000020 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.809T>G r.(?) p.(Leu270Arg) - pathogenic g.49846380T>G g.50081723T>G Leu200Arg (CTG>CGG) - CLCN5_000066 - PubMed: Lloyd 1996, OMIM:var0003 - rs151340622 Germline yes - AciI - - Johan den Dunnen
+/. - c.818C>A r.(?) p.(Ser273*) - pathogenic g.49846389C>A g.50081732C>A - - CLCN5_000021 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. - c.818C>A r.(?) p.(Ser273*) - pathogenic g.49846389C>A g.50081732C>A - - CLCN5_000021 - PubMed: Blanchard 2008 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.818C>T r.(?) p.(Ser273Leu) - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Mansour-Hendili et al. 2015 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.818C>T r.(?) p.(Ser273Leu) - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Grand 2009 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.818C>T r.(?) p.(Ser273Leu) - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Park 2014 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.818C>T r.(?) p.(Ser273Leu) - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Sekine 2014 - - Unknown - - - - - Rosa Vargas-Poussou
-?/. - c.819= r.(=) p.(Ser273=) - likely benign g.49846390G>A - CLCN5(NM_000084.5):c.609G>A (p.S203=) - CLCN5_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.845G>C r.(?) p.(Gly282Ala) - pathogenic g.49846416G>C g.50081759G>C - - CLCN5_000023 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. - c.845G>C r.(?) p.(Gly282Ala) - pathogenic g.49846416G>C g.50081759G>C - - CLCN5_000023 - PubMed: Grand 2009 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.845G>C r.(?) p.(Gly282Ala) - pathogenic g.49846416G>C g.50081759G>C - - CLCN5_000023 - PubMed: Grand 2009 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.845G>C r.(?) p.(Gly282Ala) - pathogenic g.49846416G>C g.50081759G>C - - CLCN5_000023 - PubMed: Grand 2009 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.871T>C r.(?) p.(Cys291Arg) - pathogenic g.49846442T>C g.50081785T>C - - CLCN5_000024 - PubMed: Mansour-Hendili et al. 2015 - - Germline - - - - - Rosa Vargas-Poussou
+/. - c.871T>C r.(?) p.(Cys291Arg) - pathogenic g.49846442T>C g.50081785T>C - - CLCN5_000024 - PubMed: Hoopes 2004 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.871T>C r.(?) p.(Cys291Arg) - pathogenic g.49846442T>C g.50081785T>C - - CLCN5_000024 - PubMed: Ludwig 2005 - - Unknown - - - - - Rosa Vargas-Poussou
+/. - c.871T>C r.(?) p.(Cys291Arg) - 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 - - - - - Rosa Vargas-Poussou
+/. - c.871T>C r.(?) p.(Cys291Arg) - 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 - - - - - Rosa Vargas-Poussou
+/. - c.871T>C r.(?) p.(Cys291Arg) - 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 - - - - - Rosa Vargas-Poussou
+/. - c.871T>C r.(?) p.(Cys291Arg) - 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 - - - - - Rosa Vargas-Poussou
+/. - c.871T>C r.(?) p.(Cys291Arg) - 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 - - - - - Rosa Vargas-Poussou
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »