Full data view for gene CLCNKB

Information The variants shown are described using the NM_000085.4 transcript reference sequence.

142 entries on 2 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     
+/. - c.-152_410{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_16370231)_(16374451_?)del g.(?_16043736)_(16047956_?)del gene deletion - CLCNKB_000088 - PubMed: Brochard 2009 - - Germline - - - - - DNA SEQ - - BARTS Pat28 PubMed: Brochard 2009 patient F - France white - - - - 1 Johan den Dunnen
+/. - c.-152_410{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_16370231)_(16374451_?)del g.(?_16043736)_(16047956_?)del gene deletion - CLCNKB_000088 - PubMed: Brochard 2009 - - Germline - - - - - DNA SEQ - - BARTS Pat30 PubMed: Brochard 2009 patient F - Congo - - - - - 1 Johan den Dunnen
+/. - c.-152_410{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_16370231)_(16374451_?)del g.(?_16043736)_(16047956_?)del gene deletion - CLCNKB_000088 - PubMed: Brochard 2009 - - Germline - - - - - DNA SEQ - - BARTS Pat32 PubMed: Brochard 2009 patient - - Morocco - - - - - 1 Johan den Dunnen
+/. - c.-11640_230-185del r.0? p.0? Paternal (confirmed) ACMG pathogenic (recessive) g.16358743_16372845del g.16032248_16046350del - - CLCNKA_000025 - - - - Germline - - - - - DNA SEQ-NG-I blood WGS SNHL - - - - no Korea, South (Republic) Asia-E - - - - 1 Soyoung Lee
+/. - c.-152_576del r.? p.? Both (homozygous) ACMG pathogenic g.16370231_16374915del g.16043736_16048420del - - CLCNKB_000010 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - BARTS4B - PubMed: Trujillano 2017 no information from parents - - - - - - - - 1 Daniel Trujillano
+/. - c.-152_*410del r.(?) p.0? Both (homozygous) ACMG pathogenic g.16370231_16383821del g.16043736_16057326del - - CLCNKB_000011 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - BARTS3 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/? 1_20 c.(?_-136)_(*392_?)del r.0 p.0 Unknown - pathogenic g.? - - - CLCNKB_000009 heterozygous whole gene deletion - - - Unknown - - - - - DNA MLPA, SEQ - - GTLMNS - - - F no France - - - - - 1 Rosa Vargas-Poussou
-/. - c.-69G>T r.(?) p.(=) Unknown - benign g.16370314G>T g.16043819G>T - - CLCNKB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7-108C>T r.(=) p.(=) Unknown - benign g.16370873C>T g.16044378C>T CLCNKB(NM_000085.4):c.-7-108C>T - CLCNKB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-152_(1227+64_?){0} r.0? p.0? Unknown - pathogenic g.(?_16356142)_(16377607_?)del - - - CLCNKB_000079 - - - - Germline - - - - - DNA SEQ-NG-I - - BARTS3 PT947 - - - - Japan Asian - - - - 1 Takayasu Mori
+/. - c.-152_(576+1_577-1)[0] r.0? p.0? Paternal (confirmed) - pathogenic (recessive) g.(16353109_16353191)_(16374916_16374998)del g.(16026614_16026696)_(16048421_16048503)del - - CLCNKB_000077 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - - Germline - - - - - DNA MLPA, SEQ - - BARTS3 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - F no Italy - - - - - 1 Dr Silvana Tedeschi
?/. - c.2T>A r.? p.(Met1Lys) Unknown - likely pathogenic g.16375468T>A - - - CLCNKB_000081 - - - - Germline - - - - - DNA SEQ-NG-I - - BARTS3 PT471 - - - - Japan Asian - - - - 1 Takayasu Mori
-?/. - c.45T>C r.(?) p.(Pro15=) Unknown - likely benign g.16371032T>C - - - CLCNKB_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.80G>T r.(?) p.(Arg27Leu) Unknown - benign g.16371067G>T g.16044572G>T CLCNKB(NM_000085.5):c.80G>T (p.R27L) - CLCNKB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.80G>T r.(?) p.(Arg27Leu) Unknown - benign g.16371067G>T g.16044572G>T CLCNKB(NM_000085.5):c.80G>T (p.R27L) - CLCNKB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+93C>T r.(=) p.(=) Unknown - benign g.16371180C>T g.16044685C>T CLCNKB(NM_000085.4):c.100+93C>T - CLCNKB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171G>A r.(?) p.(Gly57=) Unknown - likely benign g.16372123G>A g.16045628G>A CLCNKB(NM_000085.4):c.171G>A (p.G57=) - CLCNKB_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171G>A r.(?) p.(Gly57=) Unknown - likely benign g.16372123G>A - CLCNKB(NM_000085.4):c.171G>A (p.G57=) - CLCNKB_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172G>T r.(?) p.(Val58Leu) Unknown - VUS g.16372124G>T - CLCNKB(NM_000085.4):c.172G>T (p.V58L) - CLCNKB_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.229+102T>G r.(=) p.(=) Unknown - benign g.16372283T>G g.16045788T>G CLCNKB(NM_000085.4):c.229+102T>G - CLCNKB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.229+110G>A r.(=) p.(=) Unknown - benign g.16372291G>A g.16045796G>A CLCNKB(NM_000085.4):c.229+110G>A - CLCNKB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231G>A r.(?) p.(Ala77=) Unknown - likely benign g.16373031G>A - CLCNKB(NM_000085.4):c.231G>A (p.A77=) - CLCNKB_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.242T>C r.(?) p.(Leu81Pro) Both (homozygous) - pathogenic g.16373042T>C g.16046547T>C - - CLCNKB_000002 MLPA showed no deletion - - - Unknown - - - - - DNA MLPA, SEQ - - BARTS3 - - - M - Thailand - - - - - 1 Rosa Vargas-Poussou
+/? 4 c.274C>T r.(?) p.(Arg92Trp) Unknown - pathogenic g.16373074C>T g.16046579C>T - - CLCNKB_000003 - - - - Unknown - - - - - DNA MLPA, SEQ - - GTLMNS - - - F no France - - - - - 1 Rosa Vargas-Poussou
-/. - c.310G>A r.(?) p.(Val104Ile) Unknown - benign g.16373110G>A g.16046615G>A CLCNKB(NM_000085.4):c.310G>A (p.V104I) - CLCNKB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.324A>G r.(?) p.(Ser108=) Unknown - benign g.16373124A>G g.16046629A>G CLCNKB(NM_000085.5):c.324A>G (p.S108=) - CLCNKB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.324A>G r.(?) p.(Ser108=) Unknown - benign g.16373124A>G g.16046629A>G CLCNKB(NM_000085.5):c.324A>G (p.S108=) - CLCNKB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.343A>C r.(?) p.(Thr115Pro) Both (homozygous) - pathogenic (recessive) g.16373143A>C g.16046648A>C - - CLCNKB_000089 - PubMed: Brochard 2009 - - Germline - - - - - DNA SEQ - - BARTS Pat33 PubMed: Brochard 2009 patient F - France white - - - - 1 Johan den Dunnen
-/. - c.359-6G>C r.(=) p.(=) Unknown - benign g.16374394G>C g.16047899G>C CLCNKB(NM_000085.4):c.359-6G>C - CLCNKB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.371C>T r.(?) p.(Pro124Leu) Unknown - pathogenic g.16374412C>T - CLCNKB(NM_000085.4):c.371C>T (p.P124L) - CLCNKB_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 5 c.446T>A r.(?) p.(Val149Glu) Both (homozygous) - likely pathogenic (recessive) g.16374487T>A g.16047992T>A - - CLCNKB_000001 - PubMed: Bruno 2011, Journal: Bruno 2011 - - Germline - - - - - DNA SEQ - - BARTS Pat4 PubMed: Bruno 2011, Journal: Bruno 2011 - - - Australia - - - - - 1 Damien Bruno
+/. - c.446T>A r.(?) p.(Val149Glu) Unknown ACMG pathogenic g.16374487T>A g.16047992T>A CLCNKB c.446T>A, p.V149E - CLCNKB_000001 homozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - - - DNA SEQ-NG blood 115 genes causing different inherited kidney diseases retinal disease K117 PubMed: Zacchia 2021 - ? - (Italy) - - - - - 1 LOVD
-/. - c.492G>C r.(?) p.(Gly164=) Unknown - benign g.16374533G>C g.16048038G>C CLCNKB(NM_000085.5):c.492G>C (p.G164=) - CLCNKB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.492G>C r.(?) p.(Gly164=) Unknown - benign g.16374533G>C g.16048038G>C CLCNKB(NM_000085.5):c.492G>C (p.G164=) - CLCNKB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.498+1G>C r.spl? p.? Unknown - pathogenic g.16374540G>C g.16048045G>C - - CLCNKB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499G>A r.(?) p.(Gly167Ser) Unknown - VUS g.16374838G>A g.16048343G>A - - CLCNKB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.500G>T r.(?) p.(Gly167Val) Maternal (confirmed) - pathogenic (recessive) g.16374839G>T g.16048344G>T - - CLCNKB_000074 - sahbani, submitted 2020, Frontiers in Renal Pharmacology - - Germline - - - - - DNA MLPA, SEQ - - BARTS3 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - M no Italy - 02y - - - 1 Dr Silvana Tedeschi
-?/. - c.510G>C r.(?) p.(Val170=) Unknown - likely benign g.16374849G>C - CLCNKB(NM_000085.4):c.510G>C (p.V170=) - CLCNKB_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.577-5C>T r.spl? p.? Unknown - benign g.16374994C>T g.16048499C>T CLCNKB(NM_000085.5):c.577-5C>T - CLCNKB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.577-5C>T r.spl? p.? Unknown - benign g.16374994C>T g.16048499C>T CLCNKB(NM_000085.5):c.577-5C>T - CLCNKB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.641C>G r.(?) p.(Ala214Gly) Unknown - benign g.16375063C>G g.16048568C>G CLCNKB(NM_000085.5):c.641C>G (p.A214G) - CLCNKB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.641C>G r.(?) p.(Ala214Gly) Unknown - benign g.16375063C>G g.16048568C>G CLCNKB(NM_000085.5):c.641C>G (p.A214G) - CLCNKB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.642A>C r.(?) p.(Ala214=) Unknown - benign g.16375064A>C g.16048569A>C CLCNKB(NM_000085.5):c.642A>C (p.A214=) - CLCNKB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.642A>C r.(?) p.(Ala214=) Unknown - benign g.16375064A>C g.16048569A>C CLCNKB(NM_000085.5):c.642A>C (p.A214=) - CLCNKB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - VUS g.16375069C>T - CLCNKB(NM_000085.4):c.647C>T (p.P216L) - CLCNKB_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.656-68G>A r.(=) p.(=) Unknown - VUS g.16375547G>A g.16049052G>A CLCNKB(NM_001165945.2):c.81G>A (p.W27*) - CLCNKB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.656-31del r.(=) p.(=) Unknown - likely pathogenic g.16375584del g.16049089del CLCNKB(NM_001165945.2):c.118del (p.(Arg40GlyfsTer4)), CLCNKB(NM_001165945.2):c.118delA (p.R40Gfs*4) - CLCNKB_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.656-31del r.(?) p.(=) Unknown ACMG pathogenic (recessive) g.16375584del g.16049089del NM_001165945.2:c.118delA - CLCNKB_000082 ACMG PVS1, PM2, PM3_P PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNB SH257-604 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.656-31del r.(=) p.(=) Unknown - VUS g.16375584del - CLCNKB(NM_001165945.2):c.118del (p.(Arg40GlyfsTer4)), CLCNKB(NM_001165945.2):c.118delA (p.R40Gfs*4) - CLCNKB_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.656-14A>T r.(=) p.(=) Unknown - likely benign g.16375601A>T - CLCNKB(NM_001165945.2):c.135A>T (p.(Ser45=)) - CLCNKB_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.656-2A>G r.spl? p.? Unknown - likely pathogenic g.16375613A>G - - - CLCNKB_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.664T>C r.(?) p.(Phe222Leu) Unknown - pathogenic (recessive) g.16375623T>C g.16049128T>C - - CLCNKB_000100 - PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA MLPA, SEQ - - GTLMNS Pat79 PubMed: Viering 2023, Journal: Viering 2023 - F - France - - - - - 1 Johan den Dunnen
+?/. 8 c.725C>A r.(?) p.(Ala242Glu) Paternal (confirmed) - pathogenic (recessive) g.16375684C>A g.16049189C>A - - CLCNKB_000075 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - - Germline - - - - - DNA MLPA, SEQ - - BARTS3 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - F no Italy - - - - - 1 Dr Silvana Tedeschi
+/. 8 c.725C>A r.(?) p.(Ala242Glu) Maternal (confirmed) - pathogenic (recessive) g.16375684C>A g.16049189C>A - - CLCNKB_000075 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - - Germline - - - - - DNA MLPA, SEQ - - BARTS3 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - F no Italy - - - - - 1 Dr Silvana Tedeschi
+/. 8 c.725C>A r.(?) p.(Ala242Glu) Both (homozygous) - pathogenic (recessive) g.16375684C>A g.16049189C>A - - CLCNKB_000075 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - - Germline - - - - - DNA MLPA, SEQ - - BARTS3 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - F yes Italy - - - - - 1 Dr Silvana Tedeschi
+/? 8 c.736G>C r.(?) p.(Gly246Arg) Both (homozygous) - pathogenic g.16375695G>C g.16049200G>C - - CLCNKB_000004 - - - - Unknown - - - - - DNA SEQ - - BARTS3 - - - F yes Turkey - - - - - 1 Rosa Vargas-Poussou
-?/. - c.762G>A r.(?) p.(=) Unknown - likely benign g.16375721G>A - CLCNKB(NM_000085.4):c.762G>A (p.A254=) - CLCNKB_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782-2A>G r.spl? p.? Unknown - pathogenic g.16376111A>G g.16049616A>G CLCNKB(NM_000085.4):c.782-2A>G - CLCNKB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.782-2A>G r.spl? p.? Unknown - likely pathogenic g.16376111A>G - CLCNKB(NM_000085.4):c.782-2A>G - CLCNKB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.860C>T r.(?) p.(Ala287Val) Unknown - benign g.16376191C>T g.16049696C>T CLCNKB(NM_000085.5):c.860C>T (p.A287V) - CLCNKB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.860C>T r.(?) p.(Ala287Val) Unknown - benign g.16376191C>T g.16049696C>T CLCNKB(NM_000085.5):c.860C>T (p.A287V) - CLCNKB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.865G>C r.(?) p.(Gly289Arg) Both (homozygous) - likely pathogenic (recessive) g.16376196G>C g.16049701G>C - - CLCNKB_000076 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - - Germline - - - - - DNA MLPA, SEQ - - BARTS3 - Sahbani, submitted 2020, Frontiers in Renal Pharmacology - M yes (Albania) - - - - - 1 Dr Silvana Tedeschi
-/. - c.866+35A>T r.(=) p.(=) Unknown - benign g.16376232A>T g.16049737A>T CLCNKB(NM_000085.4):c.866+35A>T - CLCNKB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876T>C r.(?) p.(Cys292=) Unknown - benign g.16376319T>C g.16049824T>C CLCNKB(NM_000085.4):c.876T>C (p.C292=), CLCNKB(NM_000085.5):c.876T>C (p.C292=) - CLCNKB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876T>C r.(?) p.(Cys292=) Unknown - benign g.16376319T>C g.16049824T>C CLCNKB(NM_000085.4):c.876T>C (p.C292=), CLCNKB(NM_000085.5):c.876T>C (p.C292=) - CLCNKB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.876T>C r.(?) p.(Cys292=) Unknown - benign g.16376319T>C - CLCNKB(NM_000085.4):c.876T>C (p.C292=), CLCNKB(NM_000085.5):c.876T>C (p.C292=) - CLCNKB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.937_940dup r.(?) p.(Arg314LysfsTer2) Unknown - pathogenic g.16376380_16376383dup g.16049885_16049888dup CLCNKB(NM_000085.4):c.937_940dupAATA (p.R314Kfs*2) - CLCNKB_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.968+1G>A r.spl? p.? Unknown - pathogenic g.16376412G>A g.16049917G>A CLCNKB(NM_000085.4):c.968+1G>A - CLCNKB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.968+1G>A r.spl? p.? Unknown - likely pathogenic g.16376412G>A g.16049917G>A CLCNKB(NM_000085.4):c.968+1G>A - CLCNKB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.968+1G>A r.spl? p.? Unknown - pathogenic g.16376412G>A - CLCNKB(NM_000085.4):c.968+1G>A - CLCNKB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.968+9C>T r.(=) p.(=) Unknown - likely benign g.16376420C>T - CLCNKB(NM_000085.5):c.968+9C>T - CLCNKB_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1000G>C r.(?) p.(Val334Leu) Unknown - likely benign g.16377042G>C - CLCNKB(NM_000085.4):c.1000G>C (p.(Val334Leu)) - CLCNKB_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 11 c.1052G>C r.(?) p.(Arg315Pro) Unknown - pathogenic g.16377094G>C g.16050599G>C - - CLCNKB_000005 - - - - Unknown - - - - - DNA SEQ - - BARTS3 - - - F no France - - - - - 1 Rosa Vargas-Poussou
-/. - c.1053+13G>C r.(=) p.(=) Unknown - benign g.16377108G>C g.16050613G>C CLCNKB(NM_000085.5):c.1053+13G>C - CLCNKB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1053+13G>C r.(=) p.(=) Unknown - benign g.16377108G>C g.16050613G>C CLCNKB(NM_000085.5):c.1053+13G>C - CLCNKB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1071T>A r.(?) p.(His357Gln) Unknown - VUS g.16377387T>A g.16050892T>A - - CLCNKB_000035 - PubMed: Papuc 2019 - rs201245211 De novo - - - - - DNA SEQ-NG-I blood WES EE 69937 - - M yes Sri Lanka - - - - - 1 Anaïs Begemann
-?/. - c.1092C>T r.(?) p.(Asn364=) Unknown - likely benign g.16377408C>T g.16050913C>T CLCNKB(NM_000085.4):c.1092C>T (p.N364=) - CLCNKB_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1092C>T r.(?) p.(Asn364=) Unknown - likely benign g.16377408C>T - CLCNKB(NM_000085.4):c.1092C>T (p.N364=) - CLCNKB_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1166G>A r.(?) p.(Trp389*) Unknown ACMG pathogenic (recessive) g.16377482G>A g.16050987G>A - - CLCNKB_000083 ACMG PVS1, PM2, PM3_P PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - DFNB SH257-604 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
-/. - c.1183C>T r.(?) p.(Arg395Trp) Unknown - benign g.16377499C>T g.16051004C>T CLCNKB(NM_000085.4):c.1183C>T (p.R395W) - CLCNKB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1192A>G r.(?) p.(Ile398Val) Unknown - likely benign g.16377508A>G - CLCNKB(NM_000085.4):c.1192A>G (p.(Ile398Val)) - CLCNKB_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1214_1221del r.(?) p.(Phe405TyrfsTer43) Unknown - pathogenic (recessive) g.16377530_16377537del g.16051035_16051042del - - CLCNKB_000101 - PubMed: Viering 2023, Journal: Viering 2023 - - Germline - - - - - DNA SEQ - - GTLMNS Pat80 PubMed: Viering 2023, Journal: Viering 2023 - F - France - - - - - 1 Johan den Dunnen
+/. - c.1227+2T>A r.spl? p.? Unknown - pathogenic g.16377545T>A g.16051050T>A - - CLCNKB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1227+61dup r.(=) p.(=) Unknown - benign g.16377604dup g.16051109dup CLCNKB(NM_000085.4):c.1227+61dupG - CLCNKB_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1228-73A>G r.(=) p.(=) Unknown - benign g.16377900A>G g.16051405A>G CLCNKB(NM_000085.4):c.1228-73A>G - CLCNKB_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1234A>G r.(?) p.(Met412Val) Unknown - likely pathogenic g.16377979A>G g.16051484A>G - - CLCNKB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1254C>T r.(?) p.(Thr418=) Unknown - benign g.16377999C>T g.16051504C>T - - CLCNKB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1255A>G r.(?) p.(Ile419Val) Unknown - benign g.16378000A>G g.16051505A>G - - CLCNKB_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 13 c.1271G>A r.(?) p.(Gly424Glu) Both (homozygous) - pathogenic g.16378016G>A g.16051521G>A - - CLCNKB_000007 - - - - Unknown - - - - - DNA SEQ - - BARTS3 - - - M no Morocco - - - - - 1 Rosa Vargas-Poussou
+/? 13 c.1271G>A r.(?) p.(Gly424Glu) Both (homozygous) - pathogenic g.16378016G>A g.16051521G>A - - CLCNKB_000007 - - - - Unknown - - - - - DNA SEQ - - BARTS3 - - - M yes Algeria - - - - - 1 Rosa Vargas-Poussou
-/. - c.1297+5G>T r.spl? p.? Unknown - benign g.16378047G>T g.16051552G>T CLCNKB(NM_000085.4):c.1297+5G>T - CLCNKB_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1297+5G>T r.spl? p.? Unknown - likely benign g.16378047G>T g.16051552G>T CLCNKB(NM_000085.4):c.1297+5G>T - CLCNKB_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1298G>A r.(?) p.(Gly433Glu) Unknown ACMG pathogenic g.16378205G>A g.16051710G>A CLCNKB c.1298G>A, p.G433E - CLCNKB_000090 homozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - - - DNA SEQ-NG blood 115 genes causing different inherited kidney diseases retinal disease K103 PubMed: Zacchia 2021 - ? - (Italy) - - - - - 1 LOVD
-/. - c.1308C>T r.(?) p.(Ile436=) Unknown - benign g.16378215C>T g.16051720C>T - - CLCNKB_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1308C>T r.(=) p.(=) Both (homozygous) - benign g.16378215C>T g.16051720C>T - - CLCNKB_000046 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5252 Germline - 5/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+/. - c.1312C>T r.(?) p.(Arg438Cys) Unknown - pathogenic g.16378219C>T - CLCNKB(NM_000085.4):c.1312C>T (p.R438C) - CLCNKB_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 14 c.1313G>A r.(?) p.(Arg438His) Both (homozygous) - pathogenic g.16378220G>A g.16051725G>A - - CLCNKB_000008 - - - - Unknown - - - - - DNA SEQ - - GTLMNS - - - F ? Comoros - - - - - 1 Rosa Vargas-Poussou
+/? 14 c.1316T>C r.(?) p.(Leu439Pro) Unknown - pathogenic g.16378223T>C g.16051728T>C - - CLCNKB_000006 - - - - Unknown - - - - - DNA SEQ - - BARTS3 - - - F no France - - - - - 1 Rosa Vargas-Poussou
-/. - c.1389A>C r.(?) p.(Pro463=) Unknown - benign g.16378296A>C g.16051801A>C CLCNKB(NM_000085.4):c.1389A>C (p.P463=) - CLCNKB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1393G>A r.(?) p.(Gly465Arg) Unknown - pathogenic g.16378300G>A - CLCNKB(NM_000085.4):c.1393G>A (p.G465R) - CLCNKB_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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