Full data view for gene WNK1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the transcript reference sequence.

227 entries on 3 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.-328C>G r.(?) p.(=) Unknown - benign g.862404C>G - - - WNK1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-91T>G r.(?) p.(=) Unknown - benign g.862641T>G g.753475T>G WNK1(NM_001184985.2):c.-91T>G - WNK1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-91T>G r.(?) p.(=) Unknown - benign g.862641T>G g.753475T>G WNK1(NM_001184985.2):c.-91T>G - WNK1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9G>T r.(?) p.(=) Unknown - likely benign g.862723G>T - WNK1(NM_001184985.2):c.-9G>T - WNK1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2C>T r.(?) p.(=) Unknown - VUS g.862730C>T - WNK1(NM_001184985.2):c.-2C>T - WNK1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258T>C r.(=) p.(=) Parent #1 - benign g.862989T>C g.753823T>C - - WNK1_000016 - - - rs3168640 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.258T>C r.(?) p.(Cys86=) Unknown - benign g.862989T>C g.753823T>C WNK1(NM_001184985.2):c.258T>C (p.C86=) - WNK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258T>C r.(?) p.(Cys86=) Unknown - benign g.862989T>C g.753823T>C WNK1(NM_001184985.2):c.258T>C (p.C86=) - WNK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258T>C r.(?) p.(Cys86=) Unknown - benign g.862989T>C g.753823T>C WNK1(NM_001184985.2):c.258T>C (p.C86=) - WNK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421G>A r.(?) p.(Ala141Thr) Unknown - benign g.863152G>A g.753986G>A WNK1(NM_001184985.2):c.421G>A (p.A141T) - WNK1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.446C>T r.(?) p.(Ala149Val) Unknown - benign g.863177C>T - WNK1(NM_001184985.1):c.446C>T (p.A149V), WNK1(NM_001184985.2):c.446C>T (p.A149V) - WNK1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.446C>T r.(?) p.(Ala149Val) Unknown - benign g.863177C>T - WNK1(NM_001184985.1):c.446C>T (p.A149V), WNK1(NM_001184985.2):c.446C>T (p.A149V) - WNK1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568G>A r.(?) p.(Ala190Thr) Unknown - VUS g.863299G>A - WNK1(NM_001184985.2):c.568G>A (p.A190T) - WNK1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578C>A r.(?) p.(Pro193Gln) Unknown - likely benign g.863309C>A - WNK1(NM_001184985.1):c.578C>A (p.P193Q) - WNK1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.684C>T r.(?) p.(Gly228=) Unknown - benign g.863415C>T g.754249C>T WNK1(NM_001184985.1):c.684C>T (p.G228=), WNK1(NM_001184985.2):c.684C>T (p.G228=) - WNK1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.684C>T r.(?) p.(Gly228=) Unknown - benign g.863415C>T - WNK1(NM_001184985.1):c.684C>T (p.G228=), WNK1(NM_001184985.2):c.684C>T (p.G228=) - WNK1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.759+15A>C r.(=) p.(=) Unknown - benign g.863505A>C g.754339A>C WNK1(NM_001184985.2):c.759+15A>C - WNK1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.759+16_759+18dup r.(=) p.(=) Parent #1 - benign g.863506_863508dup g.754340_754342dup - - WNK1_000017 - - - rs72647375 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.759+16_759+18dup r.(=) p.(=) Unknown - benign g.863506_863508dup g.754340_754342dup WNK1(NM_001184985.1):c.759+16_759+18dupCTT, WNK1(NM_001184985.2):c.759+16_759+18dupCTT - WNK1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.759+16_759+18dup r.(=) p.(=) Unknown - benign g.863506_863508dup - WNK1(NM_001184985.1):c.759+16_759+18dupCTT, WNK1(NM_001184985.2):c.759+16_759+18dupCTT - WNK1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.759+27G>A r.(=) p.(=) Parent #1 - benign g.863517G>A g.754351G>A - - WNK1_000018 - - - rs3858703 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.865T>C r.(?) p.(Ser289Pro) Unknown - VUS g.922913T>C - WNK1(NM_001184985.2):c.865T>C (p.S289P) - WNK1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.915G>A r.(?) p.(Thr305=) Unknown - likely benign g.922963G>A - WNK1(NM_001184985.2):c.915G>A (p.T305=) - WNK1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.933-16A>T r.(=) p.(=) Unknown - likely benign g.936192A>T - WNK1(NM_001184985.2):c.933-16A>T - WNK1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1074C>T r.(?) p.(Thr358=) Unknown - likely benign g.936349C>T g.827183C>T WNK1(NM_001184985.1):c.1074C>T (p.T358=), WNK1(NM_001184985.2):c.1074C>T (p.T358=), WNK1(NM_018979.4):c.1074C>T (p.T358=) - WNK1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1074C>T r.(?) p.(Thr358=) Unknown - likely benign g.936349C>T - WNK1(NM_001184985.1):c.1074C>T (p.T358=), WNK1(NM_001184985.2):c.1074C>T (p.T358=), WNK1(NM_018979.4):c.1074C>T (p.T358=) - WNK1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1074C>T r.(?) p.(Thr358=) Unknown - likely benign g.936349C>T - WNK1(NM_001184985.1):c.1074C>T (p.T358=), WNK1(NM_001184985.2):c.1074C>T (p.T358=), WNK1(NM_018979.4):c.1074C>T (p.T358=) - WNK1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1080T>C r.(?) p.(Pro360=) Unknown - likely benign g.936355T>C g.827189T>C WNK1(NM_001184985.1):c.1080T>C (p.P360=) - WNK1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1107C>T r.(?) p.(=) Unknown - likely benign g.936382C>T - WNK1(NM_001184985.2):c.1107C>T (p.L369=) - WNK1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1153+40C>G r.(=) p.(=) Parent #1 - benign g.936468C>G g.827302C>G - - WNK1_000019 - - - rs2158502 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1153+40C>G r.(=) p.(=) Unknown - benign g.936468C>G g.827302C>G WNK1(NM_001184985.2):c.1153+40C>G - WNK1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197T>C r.(?) p.(=) Unknown - likely benign g.939212T>C - WNK1(NM_001184985.1):c.1197T>C (p.Y399=) - WNK1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1287A>G r.(=) p.(=) Parent #1 - benign g.939302A>G g.830136A>G - - WNK1_000020 - - - rs10774466 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1287A>G r.(?) p.(Ala429=) Unknown - benign g.939302A>G g.830136A>G WNK1(NM_001184985.2):c.1287A>G (p.A429=) - WNK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1287A>G r.(?) p.(Ala429=) Unknown - benign g.939302A>G g.830136A>G WNK1(NM_001184985.2):c.1287A>G (p.A429=) - WNK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1287A>G r.(?) p.(Ala429=) Unknown - benign g.939302A>G g.830136A>G WNK1(NM_001184985.2):c.1287A>G (p.A429=) - WNK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1401-11C>A r.(=) p.(=) Unknown - benign g.968400C>A g.859234C>A WNK1(NM_001184985.2):c.1401-11C>A - WNK1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1401-11C>A r.(=) p.(=) Unknown - benign g.968400C>A g.859234C>A WNK1(NM_001184985.2):c.1401-11C>A - WNK1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1401-9G>T r.(=) p.(=) Unknown - likely benign g.968402G>T g.859236G>T WNK1(NM_018979.4):c.1401-9G>T - WNK1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1479T>C r.(?) p.(Asp493=) Unknown - benign g.968489T>C g.859323T>C WNK1(NM_001184985.2):c.1479T>C (p.D493=) - WNK1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1479T>C r.(?) p.(Asp493=) Unknown - benign g.968489T>C g.859323T>C WNK1(NM_001184985.2):c.1479T>C (p.D493=) - WNK1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1512A>G r.(?) p.(Leu504=) Unknown - benign g.968522A>G g.859356A>G WNK1(NM_001184985.2):c.1512A>G (p.L504=) - WNK1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1526T>C r.(?) p.(Ile509Thr) Unknown - benign g.968536T>C g.859370T>C WNK1(NM_001184985.2):c.1526T>C (p.I509T) - WNK1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1591_1592del r.(?) p.(Asp531Cysfs*17) Unknown - pathogenic g.968601_968602del g.859435_859436del 1591_1592delGA - WNK1_000001 - PubMed: Shekarabi 2008 - - Germline - - - - - DNA SEQ - - neuropathy - PubMed: Shekarabi 2008 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1748del r.(?) p.(Lys583SerfsTer11) Unknown - benign g.970306del g.861140del WNK1(NM_001184985.2):c.1748delA (p.K583Sfs*11) - WNK1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1748dup r.(?) p.(Gln584AlafsTer27) Unknown - likely benign g.970306dup g.861140dup WNK1(NM_001184985.2):c.1748dupA (p.Q584Afs*27) - WNK1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1824dup r.(?) p.(Ala609Cysfs*2) Unknown - pathogenic g.970382dup g.861216dup 1824dupT - WNK1_000002 - PubMed: Greenman 2007 - - Germline - - - - - DNA SEQ - - ? - PubMed: Greenman 2007 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1855A>G r.(?) p.(Thr619Ala) Unknown - VUS g.970413A>G g.861247A>G WNK1(NM_001184985.2):c.1855A>G (p.T619A) - WNK1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977G>A r.(?) p.(Gln659=) Unknown - likely benign g.971274G>A g.862108G>A WNK1(NM_001184985.2):c.1977G>A (p.Q659=) - WNK1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1994C>T r.(?) p.(Thr665Ile) Parent #1 - benign g.971291C>T g.862125C>T - - WNK1_000021 - - - rs2286007 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1994C>T r.(?) p.(Thr665Ile) Unknown - benign g.971291C>T g.862125C>T WNK1(NM_001184985.2):c.1994C>T (p.T665I) - WNK1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1994C>T r.(?) p.(Thr665Ile) Unknown - benign g.971291C>T g.862125C>T WNK1(NM_001184985.2):c.1994C>T (p.T665I) - WNK1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1994C>T r.(?) p.(Thr665Ile) Parent #1 - benign g.971291C>T g.862125C>T - - WNK1_000021 144 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2286007 Germline - 144/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 144 Mohammed Faruq
-/. - c.1994C>T r.(?) p.(Thr665Ile) Both (homozygous) - benign g.971291C>T g.862125C>T - - WNK1_000021 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2286007 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.2020A>G r.(?) p.(Thr674Ala) Unknown - benign g.971317A>G g.862151A>G WNK1(NM_001184985.1):c.2020A>G (p.T674A), WNK1(NM_001184985.2):c.2020A>G (p.T674A) - WNK1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2020A>G r.(?) p.(Thr674Ala) Parent #1 - likely benign g.971317A>G g.862151A>G - - WNK1_000105 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11833299 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.2020A>G r.(?) p.(Thr674Ala) Unknown - likely benign g.971317A>G - WNK1(NM_001184985.1):c.2020A>G (p.T674A), WNK1(NM_001184985.2):c.2020A>G (p.T674A) - WNK1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2052A>G r.(?) p.(Ala684=) Unknown - likely benign g.971349A>G g.862183A>G WNK1(NM_001184985.1):c.2052A>G (p.A684=), WNK1(NM_001184985.2):c.2052A>G (p.A684=) - WNK1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2052A>G r.(?) p.(Ala684=) Unknown - likely benign g.971349A>G - WNK1(NM_001184985.1):c.2052A>G (p.A684=), WNK1(NM_001184985.2):c.2052A>G (p.A684=) - WNK1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2081T>C r.(?) p.(Ile694Thr) Unknown - benign g.971378T>C g.862212T>C WNK1(NM_001184985.2):c.2081T>C (p.I694T) - WNK1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2139+2846C>T r.(=) p.(=) Unknown - VUS g.974282C>T g.865116C>T WNK1(NM_213655.5):c.2146C>T (p.R716C) - WNK1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2139+2852C>T r.(?) p.(=) Both (homozygous) ACMG pathogenic g.974288C>T g.865122C>T - - WNK1_000103 ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 PubMed: Monies 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - 759-gene panel neurological disorders LGMD Fam26 / 11R-00232 PubMed: Monies 2016 759-gene panel analysis 50 patients suspected of LGMD - - Saudi Arabia - - - - - 1 Johan den Dunnen
-/. - c.2139+2855A>G r.(=) p.(=) Unknown - benign g.974291A>G g.865125A>G WNK1(NM_213655.4):c.2155A>G (p.S719G), WNK1(NM_213655.5):c.2155A>G (p.S719G) - WNK1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2855A>G r.(=) p.(=) Unknown - benign g.974291A>G - WNK1(NM_213655.4):c.2155A>G (p.S719G), WNK1(NM_213655.5):c.2155A>G (p.S719G) - WNK1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2139+2872T>C r.(=) p.(=) Unknown - VUS g.974308T>C g.865142T>C WNK1(NM_213655.4):c.2172T>C (p.V724=), WNK1(NM_213655.5):c.2172T>C (p.V724=) - WNK1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2139+2872T>C r.(=) p.(=) Unknown - likely benign g.974308T>C - WNK1(NM_213655.4):c.2172T>C (p.V724=), WNK1(NM_213655.5):c.2172T>C (p.V724=) - WNK1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2875dup r.(=) p.(=) Unknown - benign g.974311dup g.865145dup WNK1(NM_213655.4):c.2175dupC (p.I726Hfs*45), WNK1(NM_213655.5):c.2175dupC (p.I726Hfs*45) - WNK1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2875dup r.(=) p.(=) Unknown - benign g.974311dup g.865145dup WNK1(NM_213655.4):c.2175dupC (p.I726Hfs*45), WNK1(NM_213655.5):c.2175dupC (p.I726Hfs*45) - WNK1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2875dup r.(=) p.(=) Unknown - benign g.974311dup g.865145dup WNK1(NM_213655.4):c.2175dupC (p.I726Hfs*45), WNK1(NM_213655.5):c.2175dupC (p.I726Hfs*45) - WNK1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2890G>C r.(=) p.(=) Unknown - benign g.974326G>C g.865160G>C WNK1(NM_213655.5):c.2190G>C (p.L730F) - WNK1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2919T>C r.(=) p.(=) Unknown - benign g.974355T>C - WNK1(NM_213655.4):c.2219T>C (p.L740P) - WNK1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2920dup r.(=) p.(=) Unknown - benign g.974356dup g.865190dup WNK1(NM_213655.4):c.2220dupC (p.F741Lfs*30), WNK1(NM_213655.5):c.2220dupC (p.F741Lfs*30) - WNK1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2920dup r.(=) p.(=) Unknown - benign g.974356dup g.865190dup WNK1(NM_213655.4):c.2220dupC (p.F741Lfs*30), WNK1(NM_213655.5):c.2220dupC (p.F741Lfs*30) - WNK1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2920dup r.(=) p.(=) Unknown - benign g.974356dup - WNK1(NM_213655.4):c.2220dupC (p.F741Lfs*30), WNK1(NM_213655.5):c.2220dupC (p.F741Lfs*30) - WNK1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2139+2925A>C r.(=) p.(=) Unknown - likely benign g.974361A>C g.865195A>C WNK1(NM_213655.5):c.2225A>C (p.H742P) - WNK1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2139+2933G>A r.(=) p.(=) Unknown - VUS g.974369G>A - WNK1(NM_213655.4):c.2233G>A (p.A745T) - WNK1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2139+2968T>C r.(=) p.(=) Unknown - benign g.974404T>C g.865238T>C WNK1(NM_213655.5):c.2268T>C (p.P756=) - WNK1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2139+3018A>C r.(=) p.(=) Unknown - VUS g.974454A>C g.865288A>C WNK1(NM_213655.5):c.2318A>C (p.E773A) - WNK1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2139+3062C>T r.(=) p.(=) Unknown - VUS g.974498C>T g.865332C>T WNK1(NM_213655.4):c.2362C>T (p.R788C), WNK1(NM_213655.5):c.2362C>T (p.R788C) - WNK1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2139+3062C>T r.(=) p.(=) Unknown - VUS g.974498C>T - WNK1(NM_213655.4):c.2362C>T (p.R788C), WNK1(NM_213655.5):c.2362C>T (p.R788C) - WNK1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2139+3062C>T r.(=) p.(=) Unknown - likely benign g.974498C>T - WNK1(NM_213655.4):c.2362C>T (p.R788C), WNK1(NM_213655.5):c.2362C>T (p.R788C) - WNK1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140-3390A>G r.(=) p.(=) Unknown - VUS g.977041A>G g.867875A>G WNK1(NM_001184985.2):c.2149A>G (p.M717V) - WNK1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2140-3219C>T r.(=) p.(=) Unknown - pathogenic g.977212C>T g.868046C>T WNK1(NM_001184985.2):c.2320C>T (p.Q774*) - WNK1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140-3141G>T r.(=) p.(=) Unknown - VUS g.977290G>T - WNK1(NM_001184985.2):c.2398G>T (p.V800F) - WNK1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2140-3135T>C r.(=) p.(=) Unknown - likely benign g.977296T>C g.868130T>C WNK1(NM_001184985.2):c.2404T>C (p.L802=) - WNK1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140-2961C>T r.(=) p.(=) Unknown - VUS g.977470C>T g.868304C>T - - WNK1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2140-2886C>T r.(=) p.(=) Unknown - pathogenic g.977545C>T g.868379C>T WNK1(NM_001184985.2):c.2653C>T (p.Q885*) - WNK1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140-2868G>A r.(=) p.(=) Unknown - VUS g.977563G>A - WNK1(NM_213655.5):c.2926G>A (p.G976S) - WNK1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140-2825C>A r.(=) p.(=) Unknown - VUS g.977606C>A - NM_213655:c.C2969A (A990D) - WNK1_000142 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0098 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.2140-2687C>T r.(=) p.(=) Unknown - VUS g.977744C>T g.868578C>T WNK1(NM_001184985.2):c.2852C>T (p.A951V) - WNK1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2140-2568C>T r.(=) p.(=) Unknown - pathogenic g.977863C>T g.868697C>T WNK1(NM_001184985.2):c.2971C>T (p.R991*) - WNK1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2140-2518dup r.(=) p.(=) Unknown - pathogenic g.977913dup g.868747dup WNK1(NM_001184985.2):c.3021dupA (p.S1008Ifs*13) - WNK1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2140-2493C>T r.(=) p.(=) Unknown - pathogenic g.977938C>T g.868772C>T WNK1(NM_001184985.2):c.3046C>T (p.Q1016*) - WNK1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140-2468A>T r.(=) p.(=) Unknown - VUS g.977963A>T g.868797A>T WNK1(NM_001184985.2):c.3071A>T (p.N1024I) - WNK1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140-2466T>A r.(=) p.(=) Unknown - VUS g.977965T>A g.868799T>A WNK1(NM_001184985.2):c.3073T>A (p.Y1025N) - WNK1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140-2423G>A r.(=) p.(=) Unknown - VUS g.978008G>A g.868842G>A WNK1(NM_001184985.1):c.3116G>A (p.G1039E), WNK1(NM_001184985.2):c.3116G>A (p.G1039E) - WNK1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2140-2423G>A r.(=) p.(=) Unknown - likely benign g.978008G>A - WNK1(NM_001184985.1):c.3116G>A (p.G1039E), WNK1(NM_001184985.2):c.3116G>A (p.G1039E) - WNK1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2140-2347dup r.(=) p.(=) Unknown - pathogenic g.978084dup g.868918dup WNK1(NM_001184985.2):c.3192dupT (p.Q1065Sfs*16) - WNK1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2140-2302dup r.(=) p.(=) Unknown - pathogenic g.978129dup g.868963dup WNK1(NM_001184985.2):c.3237dupT (p.D1080*) - WNK1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2206A>G r.(?) p.(Ile736Val) Unknown - likely benign g.980497A>G g.871331A>G WNK1(NM_001184985.1):c.3445A>G (p.I1149V), WNK1(NM_001184985.2):c.3445A>G (p.I1149V) - WNK1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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