Full data view for gene CLCN5

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

383 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_15_ c.(?_-181)_(*220_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_49834551)_(49857096_?)del g.(?_50069896)_(50092439_?)del g.50069896_50075809del - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Mansour-Hendili 2015 - - Germline - - - - - DNA SEQ - - DENT1 Dent23-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+/. _1_15_ c.(?_-181)_(*220_?)del r.0 p.0 Unknown - pathogenic g.(?_49834551)_(49857096_?)del g.(?_50069896)_(50092439_?)del g.50069896_50075809del - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent74-1 PubMed: Mansour-Hendili 2015 - M no France white - - - - 1 Rosa Vargas-Poussou
+/. _1_15_ c.(?_-181)_(*220_?)del r.0 p.0 Unknown - pathogenic g.(?_49834551)_(49857096_?)del g.(?_50069896)_(50092439_?)del g.50069896_50075809del - CLCN5_000000 whole gene deletion, breakpoints not characterized PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent180-1 PubMed: Mansour-Hendili 2015 - M no Switzerland white - - - - 1 Rosa Vargas-Poussou
+/. _1_15_ c.-382_*7016{0} r.0 p.0 Parent #1 - pathogenic g.(?_49834580)_(49856877_?)del - whole gene deletion - CLCN5_000000 - PubMed: Lloyd 1996 - - Germline yes - - - - DNA PCR, SEQ - - DENT1 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-382_*7016{0} r.0 p.0 Parent #1 - pathogenic g.(?_49834580)_(49856877_?)del - - - CLCN5_000000 - PubMed: Akuta 1997 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Akuta 1997 - - - - - - - - - 1 Rosa Vargas-Poussou
+/. _1_15_ c.-382_*7016{0} r.0 p.0 Parent #1 - pathogenic g.(?_49834580)_(49856877_?)del - - - CLCN5_000000 - PubMed: Sekine 2014 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Sekine 2014 - - - Japan - - - - - 1 Rosa Vargas-Poussou
?/. - c.-205+33dup r.(=) p.(=) Maternal (inferred) - VUS g.49687435dup - - - chrX_001623 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-205+33dup r.(=) p.(=) Maternal (inferred) - VUS g.49687435dup - - - chrX_002491 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-205+33dup r.(=) p.(=) Maternal (inferred) - VUS g.49687435dup - - - chrX_001623 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-205+33dup r.(=) p.(=) Maternal (inferred) - VUS g.49687435dup - - - chrX_002491 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-205+214T>C r.(=) p.(=) Maternal (inferred) - VUS g.49687616T>C - - - chrX_001636 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 11 c.? r.(?) p.? Unknown - pathogenic g.(?) - Val363fs - CLCN5_000000 - PubMed: Cramer 2014 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Cramer 2014 - M - - - - - - - 1 Rosa Vargas-Poussou
?/. - c.97A>G r.(?) p.(Ile33Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.147A>C r.(?) p.(Leu49Phe) Unknown - VUS g.49807055A>C - CLCN5(NM_001127899.3):c.147A>C (p.L49F) - CLCN5_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.164-2260G>A r.spl? p.(=) Parent #1 - pathogenic g.49832274G>A g.50067619G>A -480G>A - CLCN5_000095 not in 471 control chromosomes PubMed: Tosetto 2009 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Tosetto 2009 - M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.164-433G>A r.(?) p.(=) Unknown - likely pathogenic g.49834101G>A g.50069446G>A - - CLCN5_000116 - - - - Unknown - - - - - DNA SSCA - - DENT1 - PubMed: Tosetto 2009 - M - Italy - - - - - 1 Rosa Vargas-Poussou
-?/. - c.164-140T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.164-6A>T r.(=) p.(=) Unknown - likely benign g.49834528A>T - CLCN5(NM_001127899.3):c.164-6A>T - CLCN5_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.167A>G r.(?) p.(Asp56Gly) Unknown - likely benign g.49834537A>G - CLCN5(NM_001127899.3):c.167A>G (p.D56G) - CLCN5_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>A r.(?) p.(Asp56Glu) Unknown - likely benign g.49834538C>A - CLCN5(NM_001127899.2):c.168C>A (p.(Asp56Glu)) - CLCN5_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?_211)_(315+1_316-1)del r.0? p.0? Unknown - pathogenic g.(?_49834581)_(49834686_49837143)del g.(?_50069926)_(50070031_50072488)del NM_000084.2:c.1-?_105+?del, delex2 - CLCN5_000008 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent8-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+/. - c.(?_211)_(415+1_416-1)del r.0? p.0? Unknown - pathogenic g.(?_49834580)_(49837244_49840449)del g.(?_50069926)_(50072589_50075794)del NM_000084.2:c.1-?_205+?del, del ex2-3 - CLCN5_000117 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent15-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+/. - c.(?_211)_(603+1_604-1)del r.0? p.0? Unknown - pathogenic g.(?_49834581)_(49840638_49845250)del g.(?_50069926)_(50075983_50080593)del NM_000084.2:c.1-?_393+?del, del ex2-4 - CLCN5_000009 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent26-1 PubMed: Mansour-Hendili 2015 - M no France white - - - - 1 Rosa Vargas-Poussou
+/. - c.221del r.(?) p.(Leu74Trpfs*8) Unknown - pathogenic g.49834591del - CLCN5(NM_000084.5):c.11delT (p.L4Wfs*8) - CLCN5_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.252T>G r.(?) p.(Tyr84Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262A>C r.(?) p.(Asn88His) Unknown - VUS g.49834632A>C - - - CLCN5_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.292C>T r.(?) p.(Arg98Ter) Unknown - likely pathogenic g.49834662C>T g.50070007C>T NM_000084.2:c.82C>T - CLCN5_000006 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent133-1  PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98Ter) Maternal (confirmed) - likely pathogenic g.49834662C>T g.50070007C>T NM_000084.2:c.82C>T - CLCN5_000006 - PubMed: Mansour-Hendili 2015 - - Germline - - - - - DNA SEQ - - DENT1 Dent46-1  PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+/. - c.292C>T r.(?) p.(Arg98Ter) Unknown - pathogenic g.49834662C>T g.50070007C>T NM_000084.2:c.82C>T - CLCN5_000006 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent59-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) Parent #1 - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Akuta 1997 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Akuta 1997 - - - - - - - - - 1 Rosa Vargas-Poussou
+/. - c.292C>T r.(?) p.(Arg98*) Parent #1 - pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Dinour 2009 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Dinour 2009 - - - - - - - - - 1 Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) Parent #1 - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Hoopes 1998 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Hoopes 1998 - - - - - - - - - 1 Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) Parent #1 - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Matsuyama 2004 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Matsuyama 2004 - - - - - - - - - 1 Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) Parent #1 - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Sekine 2014 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Sekine 2014 - - - Japan - - - - - 1 Rosa Vargas-Poussou
+?/. - c.292C>T r.(?) p.(Arg98*) Unknown - likely pathogenic g.49834662C>T g.50070007C>T - - CLCN5_000006 - PubMed: Cramer 2014 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Cramer 2014 - M - - - - - - - 1 Rosa Vargas-Poussou
+/. - c.297_298insAAC r.(?) p.(Asp99_Arg100insAsn) Parent #1 - pathogenic g.49834667_49834668insAAC g.50070012_50070013insAAC AAC in frame 30:H - CLCN5_000075 - PubMed: Lloyd 1997 - - Germline - - - - - DNA SEQ - - XRN - PubMed: Lloyd 1997 family, 1 affected M - United States British, white - - - - 1 Johan den Dunnen
+?/. - c.302del r.(?) p.(Asp101Valfs*17) Unknown - likely pathogenic g.49834672del g.50070017del - - CLCN5_000101 - PubMed: Fervenza 2013 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Fervenza 2013 - M - - - - - - - 1 Rosa Vargas-Poussou
+/. - c.310C>T r.(?) p.(Arg104Ter) Unknown - NA g.49834680C>T g.50070025C>T C391T - CLCN5_000186 - PubMed: Ludwig 2006 - - Germline/De novo (untested) - - - - - DNA SEQ - - proteinuria, hypercalciuria, nephrocalcinosis A1 PubMed: Ludwig 2006 patient M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.315G>A r.spl? p.(?) Maternal (inferred) - likely pathogenic g.49834685G>A g.50070030G>A NM_000084.2:c.105G>A (Glu353Glu) - CLCN5_000010 splicing effect PubMed: Mansour-Hendili 2015 - - Germline - - - - - DNA SEQ - - DENT1 Dent87-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+/. 2i c.315G>A r.[315G>A,315_316ins315+1_315+23] p.Ile106ValfsTer20 Unknown - NA g.49834685G>A g.50070030G>A - - CLCN5_000010 effect on RNA studied using mini-gene splicing assay PubMed: Inoue 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.315+5G>C r.315_316ins[GTAAAC;315+6_315+23] p.Ile106ValfsTer20 Unknown - NA g.49834690G>C g.50070035G>C - - CLCN5_000184 effect on RNA studied using mini-gene splicing assay PubMed: Inoue 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.316-17T>G r.c.316-135_316ins[316-134_316-18;G;316-16_316-1] p.? Unknown - likely pathogenic g.49837127T>G g.50072472T>G IVS2–17T>G - CLCN5_000107 - PubMed: Forino 2004 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - DENT1 - PubMed: Forino 2004 - M - - - - - - - 1 Rosa Vargas-Poussou
-/. - c.316-17T>G r.(=) p.(=) Unknown - benign g.49837127T>G g.50072472T>G - - CLCN5_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.316-17T>G r.315_316= p.= Unknown - NA g.49837127T>G g.50072472T>G - - CLCN5_000107 effect on RNA studied using mini-gene splicing assay PubMed: Inoue 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.318del r.(?) p.(Thr107Profs*11) Unknown - pathogenic g.49837146del - CLCN5(NM_000084.5):c.108delT (p.T37Pfs*11) - CLCN5_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.332A>G r.(?) p.(Lys111Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.344G>A r.(?) p.(Trp115Ter) Unknown - NA g.49837172G>A g.50072517G>A G425A - CLCN5_000187 - PubMed: Ludwig 2006 - - Germline/De novo (untested) - - - - - DNA SEQ - - proteinuria, hypercalciuria, nephrocalcinosis B1 PubMed: Ludwig 2006 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.344G>A r.(?) p.(Trp115Ter) Unknown - pathogenic g.49837172G>A g.50072517G>A TGG>TAG W45X - CLCN5_000187 - PubMed: Hoopes 2004 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Pat13 PubMed: Hoopes 2004 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.376del r.(?) p.(Ser126ProfsTer5) Maternal (confirmed) - pathogenic g.49837204del g.50072549del NM_000084.2:c.166del - CLCN5_000011 - PubMed: Mansour-Hendili 2015 - - Germline - - - - - DNA SEQ - - DENT1 Dent164-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+/. - c.379G>C r.(?) p.(Gly127Arg) Unknown - pathogenic g.49837207G>C g.50072552G>C - - CLCN5_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.380G>T r.(?) p.(Gly127Val) Parent #1 - pathogenic g.49837208G>T g.50072553G>T Gly57Val (GGC>GTC) - CLCN5_000076 - PubMed: Lloyd 1997 - - Germline yes - MspI - - DNA SEQ - - XRN - PubMed: Lloyd 1997 family, 2 affecteds M - United States African American - - - - 2 Johan den Dunnen
+/. - c.380G>T r.(?) p.(Gly127Val) Maternal (confirmed) - pathogenic g.49837208G>T g.50072553G>T Gly57Val - CLCN5_000076 - PubMed: Schurman 1998, OMIM:var0011 - rs151340629 Germline yes - - - - DNA PCRdig, SEQ - - XRN - PubMed: Schurman 1998 6-generation family, 6 affected males M no United States - - - - - 6 Johan den Dunnen
+/. - c.383G>T r.(?) p.(Trp128Leu) Maternal (confirmed) - pathogenic g.49837211G>T g.50072556G>T 464G>T - CLCN5_000081 - PubMed: Tosetto 2009 - - Germline yes - - - - DNA SEQ - - DENT1 - PubMed: Tosetto 2009 - M - Italy - - - - - 1 Johan den Dunnen
?/. - c.416-6A>T r.(?) p.(=) Unknown - VUS g.49840444A>T g.50075789A>T NM_000084.2:c.206-6A>T - CLCN5_000108 - PubMed: Mansour-Hendili 2015 - rs6651602 Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent40-1 PubMed: Mansour-Hendili 2015 - M no France white - - - - 1 Rosa Vargas-Poussou
-?/. - c.416-6A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.416-6A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.416-1G>C r.spl p.? Unknown - likely pathogenic g.49840449G>C g.50075794G>C NM_000084.2:c.206-1G>C - CLCN5_000012 Loss of splice acceptor site PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent182-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
-?/. - c.473G>A r.(?) p.(Gly158Asp) Maternal (confirmed) - NA g.49840507G>A g.50075852G>A G554A - CLCN5_000188 - PubMed: Ludwig 2006 - - Germline yes - - - - DNA SEQ - - proteinuria, hypercalciuria, nephrocalcinosis FamCPatI1/II1/II2 PubMed: Ludwig 2006 family, 3 affected M - Germany - - - - - 3 Johan den Dunnen
+/. - c.494G>A r.(?) p.(Trp165Ter) Unknown - NA g.49840528G>A g.50075873G>A G575A - CLCN5_000189 - PubMed: Ludwig 2006 - - Germline/De novo (untested) - - - - - DNA SEQ - - proteinuria, hypercalciuria, nephrocalcinosis D1 PubMed: Ludwig 2006 patient M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.518G>A r.(?) p.(Trp173Ter) Unknown - likely pathogenic g.49840552G>A g.50075897G>A NM_000084.2:c.308G>A - CLCN5_000013 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent69-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+?/. - c.519G>A r.(?) p.(Trp173Ter) Unknown - likely pathogenic g.49840553G>A g.50075898G>A NM_000084.2:c.309G>A - CLCN5_000014 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent173-1 PubMed: Mansour-Hendili 2015 - M no France white - - - - 1 Rosa Vargas-Poussou
?/. - c.554A>G r.(?) p.(Lys185Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.554A>G r.(?) p.(Lys185Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.554A>G r.(?) p.(Lys185Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.594C>G r.(?) p.(Ser198Arg) Parent #1 - pathogenic g.49840628C>G g.50075973C>G - - CLCN5_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377160-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 7 c.603G>A r.spl p.? Unknown - pathogenic (recessive) g.49840637G>A g.50075982G>A - - CLCN5_000190 ACMG PVS1, PM2, PP3, PP4 PubMed: Lyu 2026 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Pat1 PubMed: Lyu 2026 - M - China - - - - - 1 Johan den Dunnen
+/. - c.603+4A>G r.spl p.? Parent #1 - pathogenic g.49840641A>G g.50075986A>G IVS4+4A>G - CLCN5_000092 - PubMed: Tosetto 2009 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - DENT1 - PubMed: Tosetto 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. 4i c.603+4A>G r.416_613del p.Gly139_Phe204del Unknown - NA g.49840641A>G g.50075986A>G - - CLCN5_000092 effect on RNA studied using mini-gene splicing assay PubMed: Inoue 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.603+6_603+7del r.(=) p.(=) Unknown - likely benign g.49840643_49840644del - CLCN5(NM_001127899.3):c.603+6_603+7delAT - CLCN5_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604-110del r.(=) p.(=) Unknown - VUS g.49845141del g.50080484del - - CLCN5_000097 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.604-110del r.(=) p.(=) Unknown - VUS g.49845141del g.50080484del - - CLCN5_000097 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.604-8T>C r.(=) p.(=) Unknown - likely benign g.49845243T>C - CLCN5(NM_000084.5):c.394-8T>C - CLCN5_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.604-2A>G r.spl p.? Unknown - likely pathogenic g.49845249A>G g.50080592A>G NM_000084.2:c.394-2A>G - CLCN5_000007 Loss of splice acceptor site PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent35-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+?/. - c.604-2A>G r.spl p.? Maternal (inferred) - likely pathogenic g.49845249A>G g.50080592A>G NM_000084.2:c.394-2A>G - CLCN5_000007 Loss of splice acceptor site PubMed: Mansour-Hendili 2015 - - Germline - - - - - DNA SEQ - - DENT1 Dent37-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+?/. - c.604-2A>G r.spl p.? Parent #1 - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 - PubMed: Sekine 2014 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Sekine 2014 - - - Japan - - - - - 1 Rosa Vargas-Poussou
+?/. - c.604-2A>G r.spl p.? Parent #1 - likely pathogenic g.49845249A>G g.50080592A>G - - CLCN5_000007 - PubMed: Zhu 2010 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Zhu 2010 - - - - - - - - - 1 Rosa Vargas-Poussou
+/. - c.604-1G>C r.spl? p.? Unknown - pathogenic g.49845250G>C - - - CLCN5_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i_6i c.(603+1_604-1)_(933+1_934-1)del r.604_933del p.Gly132_Glu241del Parent #1 - pathogenic g.(49840638_49845250)_(49846505_49850636)del - 2 kb deletion exons 5-6 - CLCN5_000071 - PubMed: Lloyd 1996 - - Germline yes - - - - DNA, RNA PCR, SEQ - - DENT1 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.613_614del r.(?) p.(Ala205LeufsTer37) Unknown - pathogenic g.49845260_49845261del g.50080603_50080604del NM_000084.2:c.403_404del - CLCN5_000015 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent36-1 PubMed: Mansour-Hendili 2015 - M no France white - - - - 1 Rosa Vargas-Poussou
?/. - c.617A>G r.(?) p.(Tyr206Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.620dup r.(?) p.(Val208SerfsTer35) Unknown - pathogenic g.49845267dup g.50080610dup NM_000084.2:c.410dup - CLCN5_000016 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent22-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
-/. - c.636G>A r.(?) p.(Met212Ile) Unknown - benign g.49845283G>A - CLCN5(NM_000084.5):c.426G>A (p.M142I) - CLCN5_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.640G>A r.(?) p.(Val214Ile) Unknown - likely benign g.49845287G>A - CLCN5(NM_001127899.3):c.640G>A (p.V214I) - CLCN5_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.648G>A r.(?) p.(Trp216Ter) Unknown - likely pathogenic g.49845295G>A g.50080638G>A NM_000084.2:c.438G>A - CLCN5_000017 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent91-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+/. - c.726+1G>A r.604_726del p.Gly132_Glu172del Parent #1 - pathogenic g.49845374G>A g.50080717G>A IVS5 gt>at - CLCN5_000070 - PubMed: Lloyd 1996 - - Germline yes - HphI - - DNA, RNA SEQ - - DENT1 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.726+2T>G r.604_726del p.Gly132_Glu172del Parent #1 - pathogenic g.49845375T>G g.50080718T>G IVS5 gt>gg - CLCN5_000069 - PubMed: Lloyd 1996 - - Germline yes - HphI - - DNA, RNA SEQ - - DENT1 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.726+5G>C r.spl? p.? Unknown - likely pathogenic g.49845378G>C g.50080721G>C - - CLCN5_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.727-8A>G r.spl p.? Maternal (inferred) - likely pathogenic g.49846290A>G g.50081633A>G NM_000084.2:c.517-8A>G - CLCN5_000018 - PubMed: Mansour-Hendili 2015 - - Germline - - - - - DNA SEQ - - DENT1 Dent11-4 PubMed: Mansour-Hendili 2015 - M no - - - - - - 1 Rosa Vargas-Poussou
+/. 5i c.727-8A>G r.[726_727insCCTGCAG,727_758del,727_814del,727_933del] p.[Ile243ProfsTer13,Ile243GlyfsTer5,Ile243CysfsTer5,Ile243_Glu311del] Unknown - NA g.49846290A>G g.50081633A>G - - CLCN5_000018 effect on RNA studied using mini-gene splicing assay PubMed: Inoue 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.727-3C>A r.[727_758del,727_814del,727_933del] p.[Ile243GlyfsTer5,Ile243CysfsTer5,Ile243_Glu311del] Unknown - NA g.49846295C>A g.50081638C>A - - CLCN5_000191 effect on RNA studied using mini-gene splicing assay PubMed: Inoue 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.746G>A r.(?) p.(Gly249Asp) Maternal (confirmed) - pathogenic g.49846317G>A g.50081660G>A NM_000084.2:c.536G>A - CLCN5_000019 - PubMed: Mansour-Hendili 2015 - - Germline - - - - - DNA SEQ - - DENT1 Dent56-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+/. - c.746G>A r.(?) p.(Gly249Asp) Parent #1 - pathogenic g.49846317G>A g.50081660G>A - - CLCN5_000019 - PubMed: Grand 2009 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Grand 2009 - - - - - - - - - 1 Rosa Vargas-Poussou
+/. - c.784del r.(?) p.(Val262Leufs*15) Parent #1 - pathogenic g.49846355del g.50081698del 865delG - CLCN5_000082 - PubMed: Tosetto 2009 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Tosetto 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.807_808dup r.(?) p.(Leu270ArgfsTer8) Unknown - pathogenic g.49846378_49846379dup g.50081721_50081722dup NM_000084.2:c.597_598dup - CLCN5_000020 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent111-1 PubMed: Mansour-Hendili 2015 - M ? - - - - - - 1 Rosa Vargas-Poussou
+/. - c.809T>G r.(?) p.(Leu270Arg) Parent #1 - pathogenic g.49846380T>G g.50081723T>G Leu200Arg (CTG>CGG) - CLCN5_000066 - PubMed: Lloyd 1996, OMIM:var0003 - rs151340622 Germline yes - AciI - - DNA SEQ - - DENT1 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.818C>A r.(?) p.(Ser273Ter) Maternal (confirmed) - pathogenic g.49846389C>A g.50081732C>A NM_000084.2:c.608C>A - CLCN5_000021 - PubMed: Mansour-Hendili 2015 - - Germline - - - - - DNA SEQ - - DENT1 Dent13-1 PubMed: Mansour-Hendili 2015 - M no France white - - - - 1 Rosa Vargas-Poussou
+/. - c.818C>A r.(?) p.(Ser273*) Parent #1 - pathogenic g.49846389C>A g.50081732C>A - - CLCN5_000021 - PubMed: Blanchard 2008 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Blanchard 2008 - - - - - - - - - 1 Rosa Vargas-Poussou
+/. - c.818C>T r.(?) p.(Ser273Leu) Unknown - pathogenic g.49846389C>T g.50081732C>T NM_000084.2:c.608C>T - CLCN5_000022 - PubMed: Mansour-Hendili 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - DENT1 Dent96-1 PubMed: Mansour-Hendili 2015 - M ? France white - - - - 1 Rosa Vargas-Poussou
+/. - c.818C>T r.(?) p.(Ser273Leu) Parent #1 - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Grand 2009 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Grand 2009 - - - - - - - - - 1 Rosa Vargas-Poussou
+/. - c.818C>T r.(?) p.(Ser273Leu) Parent #1 - pathogenic g.49846389C>T g.50081732C>T - - CLCN5_000022 - PubMed: Park 2014 - - Unknown - - - - - DNA SEQ - - DENT1 - PubMed: Park 2014 - - - - - - - - - 1 Rosa Vargas-Poussou
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