Full data view for gene CLCN2

Information The variants shown are described using the NM_004366.5 transcript reference sequence.

120 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.0 r.0 p.0 Both (homozygous) - pathogenic g.(?_184070523)_(184072763_?)del - False - CLCN2_000026 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ - - ? Pat22 PubMed: Thomas 2022 no family history - yes France - - - - - 1 Johan den Dunnen
-?/. - c.17C>T r.(?) p.(Ala6Val) Unknown - likely benign g.184079251G>A - CLCN2(NM_004366.6):c.17C>T (p.A6V) - FAM131A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>T r.(?) p.(Thr20=) Unknown - likely benign g.184079208G>A g.184361420G>A CLCN2(NM_004366.5):c.60C>T (p.T20=) - FAM131A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143C>G r.(?) p.(Pro48Arg) Unknown - likely benign g.184076840G>C g.184359052G>C CLCN2(NM_001171087.2):c.143C>G (p.(Pro48Arg)), CLCN2(NM_004366.5):c.143C>G (p.P48R), CLCN2(NM_004366.6):c.143C>G (p.P48R) - CLCN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.143C>G r.(?) p.(Pro48Arg) Unknown - benign g.184076840G>C g.184359052G>C CLCN2(NM_001171087.2):c.143C>G (p.(Pro48Arg)), CLCN2(NM_004366.5):c.143C>G (p.P48R), CLCN2(NM_004366.6):c.143C>G (p.P48R) - CLCN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143C>G r.(?) p.(Pro48Arg) Unknown - likely benign g.184076840G>C - CLCN2(NM_001171087.2):c.143C>G (p.(Pro48Arg)), CLCN2(NM_004366.5):c.143C>G (p.P48R), CLCN2(NM_004366.6):c.143C>G (p.P48R) - CLCN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197G>A r.(?) p.(Arg66Gln) Unknown - likely benign g.184076786C>T - CLCN2(NM_004366.5):c.197G>A (p.R66Q) - FAM131A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202C>T r.(?) p.(Arg68Cys) Unknown - VUS g.184076781G>A - CLCN2(NM_004366.6):c.202C>T (p.R68C) - FAM131A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203G>A r.(?) p.(Arg68His) Unknown - VUS g.184076780C>T g.184358992C>T CLCN2(NM_001171087.2):c.203G>A (p.(Arg68His)), CLCN2(NM_004366.5):c.203G>A (p.R68H), CLCN2(NM_004366.6):c.203G>A (p.R68H) - CLCN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203G>A r.(?) p.(Arg68His) Unknown - benign g.184076780C>T g.184358992C>T CLCN2(NM_001171087.2):c.203G>A (p.(Arg68His)), CLCN2(NM_004366.5):c.203G>A (p.R68H), CLCN2(NM_004366.6):c.203G>A (p.R68H) - CLCN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203G>A r.(?) p.(Arg68His) Unknown - benign g.184076780C>T - CLCN2(NM_001171087.2):c.203G>A (p.(Arg68His)), CLCN2(NM_004366.5):c.203G>A (p.R68H), CLCN2(NM_004366.6):c.203G>A (p.R68H) - CLCN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.218G>A r.(?) p.(Arg73His) Unknown - VUS g.184076765C>T g.184358977C>T CLCN2(NM_001171087.2):c.218G>A (p.(Arg73His)), CLCN2(NM_004366.5):c.218G>A (p.R73H) - CLCN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.218G>A r.(?) p.(Arg73His) Unknown - likely benign g.184076765C>T g.184358977C>T CLCN2(NM_001171087.2):c.218G>A (p.(Arg73His)), CLCN2(NM_004366.5):c.218G>A (p.R73H) - CLCN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.246C>G r.(?) p.(Phe82Leu) Unknown - VUS g.184076576G>C g.184358788G>C - - CLCN2_000025 - PubMed: Ganapathy 2019 ClinVar-RCV000201829.1 rs140463309 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-225 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.370C>T r.(?) p.(Arg124Trp) Unknown - VUS g.184076081G>A g.184358293G>A CLCN2(NM_004366.5):c.370C>T (p.R124W) - FAM131A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.481+12G>A r.(=) p.(=) Unknown - benign g.184075958C>T - CLCN2(NM_004366.6):c.481+12G>A - FAM131A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567C>T r.(?) p.(Val189=) Unknown - likely benign g.184075798G>A - CLCN2(NM_004366.5):c.567C>T (p.V189=) - FAM131A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616-19C>T r.(=) p.(=) Unknown - likely benign g.184075663G>A - CLCN2(NM_001171087.2):c.616-19C>T (p.(=)), CLCN2(NM_004366.6):c.616-19C>T - FAM131A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616-19C>T r.(=) p.(=) Unknown - likely benign g.184075663G>A - CLCN2(NM_001171087.2):c.616-19C>T (p.(=)), CLCN2(NM_004366.6):c.616-19C>T - FAM131A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.673C>T r.(?) p.(Leu225Phe) Unknown - likely benign g.184075587G>A g.184357799G>A CLCN2(NM_001171087.2):c.673C>T (p.(Leu225Phe)), CLCN2(NM_004366.5):c.673C>T (p.L225F) - FAM131A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.673C>T r.(?) p.(Leu225Phe) Unknown - likely benign g.184075587G>A - CLCN2(NM_001171087.2):c.673C>T (p.(Leu225Phe)), CLCN2(NM_004366.5):c.673C>T (p.L225F) - FAM131A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.704G>A r.(?) p.(Arg235Gln) Unknown - VUS g.184075476C>T g.184357688C>T CLCN2(NM_004366.5):c.704G>A (p.R235Q), CLCN2(NM_004366.6):c.704G>A (p.R235Q) - CLCN2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.704G>A r.(?) p.(Arg235Gln) Unknown - likely benign g.184075476C>T g.184357688C>T CLCN2(NM_004366.5):c.704G>A (p.R235Q), CLCN2(NM_004366.6):c.704G>A (p.R235Q) - CLCN2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.704G>A r.(?) p.(Arg235Gln) Parent #1 - VUS g.184075476C>T g.184357688C>T - - CLCN2_000018 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs71318369 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
?/. - c.719T>C r.(?) p.(Leu240Pro) Unknown - VUS g.184075461A>G - CLCN2(NM_004366.6):c.719T>C (p.L240P) - FAM131A_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.898+2T>G r.spl? p.? Unknown - VUS g.184075148A>C g.184357360A>C CLCN2(NM_004366.6):c.898+2T>G - FAM131A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.906T>C r.(?) p.(Ile302=) Unknown - benign g.184075047A>G g.184357259A>G CLCN2(NM_004366.6):c.906T>C (p.I302=) - CLCN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.906T>C r.(?) p.(Ile302=) Unknown - benign g.184075047A>G - CLCN2(NM_004366.6):c.906T>C (p.I302=) - CLCN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.936C>G r.(?) p.(Leu312=) Unknown - likely benign g.184075017G>C g.184357229G>C CLCN2(NM_001171087.2):c.936C>G (p.(Leu312=)) - FAM131A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.969del r.(?) p.(Phe324LeufsTer18) Unknown - pathogenic g.184074985del g.184357197del - - FAM131A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.989C>T r.(?) p.(Ala330Val) Unknown - VUS g.184074877G>A g.184357089G>A CLCN2(NM_001171087.2):c.989C>T (p.(Ala330Val)) - FAM131A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1026C>G r.(?) p.(Asn342Lys) Unknown - VUS g.184074840G>C - CLCN2(NM_004366.6):c.1026C>G (p.N342K) - FAM131A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086-17G>A r.(=) p.(=) Unknown - likely benign g.184073583C>T - CLCN2(NM_004366.6):c.1086-17G>A - FAM131A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101G>A r.(?) p.(Pro367=) Unknown - likely benign g.184073551C>T g.184355763C>T CLCN2(NM_001171087.2):c.1101G>A (p.(Pro367=)) - CLCN2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1214C>T r.(?) p.(Thr405Met) Unknown - VUS g.184073274G>A - CLCN2(NM_004366.6):c.1214C>T (p.T405M) - FAM131A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1214C>T r.(?) p.(Thr405Met) Unknown - VUS g.184073274G>A - CLCN2(NM_004366.6):c.1214C>T (p.T405M) - FAM131A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1250C>G r.(?) p.(Pro417Arg) Unknown - VUS g.184073238G>C g.184355450G>C CLCN2(NM_001171087.2):c.1250C>G (p.(Pro417Arg)) - FAM131A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1326+14G>A r.(=) p.(=) Unknown - likely benign g.184073148C>T - CLCN2(NM_001171087.2):c.1326+14G>A (p.(=)) - FAM131A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1396+99C>A r.(=) p.(=) Unknown - likely benign g.184072593G>T g.184354805G>T CLCN2(NM_004366.6):c.1396+99C>A - FAM131A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1397-13C>T r.(=) p.(=) Unknown - benign g.184072459G>A - CLCN2(NM_004366.6):c.1397-13C>T - FAM131A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1397-11C>G r.(=) p.(=) Unknown - likely benign g.184072457G>C g.184354669G>C CLCN2(NM_001171087.2):c.1397-62C>G (p.(=)) - CLCN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1416G>C r.(?) p.(Leu472=) Unknown - likely benign g.184072427C>G - CLCN2(NM_004366.5):c.1416G>C (p.L472=) - FAM131A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1461G>T r.(?) p.(Thr487=) Unknown - likely benign g.184072382C>A - CLCN2(NM_001171087.2):c.1410G>T (p.(Thr470=)) - FAM131A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1507+16C>T r.(=) p.(=) Unknown - likely benign g.184072320G>A - CLCN2(NM_001171087.2):c.1456+16C>T (p.(=)) - FAM131A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1508-16G>A r.(=) p.(=) Unknown - likely benign g.184072118C>T g.184354330C>T CLCN2(NM_001171087.2):c.1457-16G>A (p.(=)) - FAM131A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1529C>T r.(?) p.(Ala510Val) Unknown - VUS g.184072081G>A g.184354293G>A CLCN2(NM_004366.5):c.1529C>T (p.A510V) - FAM131A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1530G>A r.(?) p.(Ala510=) Unknown - likely benign g.184072080C>T - CLCN2(NM_004366.5):c.1530G>A (p.A510=) - FAM131A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548C>A r.(?) p.(Ser516=) Unknown - likely benign g.184072062G>T - CLCN2(NM_004366.5):c.1548C>A (p.S516=) - FAM131A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1560C>T r.(?) p.(Ile520=) Unknown - likely benign g.184072050G>A - CLCN2(NM_001171087.2):c.1509C>T (p.(=)) - FAM131A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1626C>T r.(?) p.(Asn542=) Unknown - likely benign g.184071984G>A g.184354196G>A CLCN2(NM_001171087.2):c.1575C>T (p.(Asn525=)) - CLCN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1633G>A r.(?) p.(Ala545Thr) Unknown - VUS g.184071977C>T - CLCN2(NM_001171087.2):c.1582G>A (p.(Ala528Thr)) - FAM131A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1652C>A r.(?) p.(Ser551Tyr) Unknown - VUS g.184071958G>T - CLCN2(NM_001171087.2):c.1601C>A (p.(Ser534Tyr)) - FAM131A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1704C>T r.(?) p.(Leu568=) Unknown - likely benign g.184071906G>A g.184354118G>A CLCN2(NM_001171087.2):c.1653C>T (p.(Leu551=)) - FAM131A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1709G>A r.(?) p.(Trp570*) Parent #1 - pathogenic g.184071901C>T g.184354113C>T - - CLCN2_000023 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201330912 Germline - 3/2752 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.1721+5G>A r.spl? p.? Unknown - likely benign g.184071884C>T g.184354096C>T CLCN2(NM_004366.6):c.1721+5G>A - CLCN2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1722-19C>T r.(=) p.(=) Unknown - likely benign g.184071602G>A - CLCN2(NM_004366.6):c.1722-19C>T - FAM131A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1722-18G>A r.(=) p.(=) Unknown - likely benign g.184071601C>T - CLCN2(NM_004366.6):c.1722-18G>A - FAM131A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1724A>T r.(?) p.(Gln575Leu) Unknown - VUS g.184071581T>A g.184353793T>A - - FAM131A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1730G>A r.(?) p.(Arg577Gln) Maternal (confirmed) - VUS g.184071575C>T g.184353787C>T - - CLCN2_000022 - PubMed: Papuc 2019 - rs137852682 Germline - - - - - DNA SEQ-NG-I blood WES EE 73237 - - F no Switzerland - - - - - 1 Anaïs Begemann
?/. - c.1730G>A r.(?) p.(Arg577Gln) Unknown - VUS g.184071575C>T - CLCN2(NM_001171087.2):c.1679G>A (p.(Arg560Gln)) - CLCN2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1757G>A r.(?) p.(Arg586Gln) Unknown - VUS g.184071548C>T g.184353760C>T CLCN2(NM_004366.6):c.1757G>A (p.R586Q) - CLCN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1795G>A r.(?) p.(Asp599Asn) Unknown - VUS g.184071510C>T g.184353722C>T CLCN2(NM_004366.6):c.1795G>A (p.D599N) - CLCN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1856-3C>T r.spl? p.? Unknown - likely benign g.184071213G>A - CLCN2(NM_004366.5):c.1856-3C>T - FAM131A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1885C>T r.(?) p.(Arg629Cys) Unknown - VUS g.184071181G>A g.184353393G>A CLCN2(NM_004366.5):c.1885C>T (p.R629C) - FAM131A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1930C>T r.(?) p.(Arg644Cys) Unknown - VUS g.184071136G>A g.184353348G>A CLCN2(NM_001171087.2):c.1879C>T (p.(Arg627Cys)), CLCN2(NM_004366.5):c.1930C>T (p.R644C) - FAM131A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1930C>T r.(?) p.(Arg644Cys) Unknown - likely pathogenic g.184071136G>A - CLCN2(NM_001171087.2):c.1879C>T (p.(Arg627Cys)), CLCN2(NM_004366.5):c.1930C>T (p.R644C) - FAM131A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1932_1934dup r.(?) p.(Arg646dup) Unknown - likely benign g.184071135_184071137dup g.184353347_184353349dup CLCN2(NM_001171087.2):c.1883_1884insCCG (p.(Arg629dup)), CLCN2(NM_004366.6):c.1932_1934dupCCG (p.R646dup) - CLCN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1932_1934dup r.(?) p.(Arg646dup) Unknown - benign g.184071135_184071137dup g.184353347_184353349dup CLCN2(NM_001171087.2):c.1883_1884insCCG (p.(Arg629dup)), CLCN2(NM_004366.6):c.1932_1934dupCCG (p.R646dup) - CLCN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1937G>A r.(?) p.(Arg646Gln) Unknown - likely benign g.184071129C>T g.184353341C>T CLCN2(NM_004366.5):c.1937G>A (p.R646Q), CLCN2(NM_004366.6):c.1937G>A (p.R646Q) - FAM131A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1937G>A r.(?) p.(Arg646Gln) Unknown - likely benign g.184071129C>T - CLCN2(NM_004366.5):c.1937G>A (p.R646Q), CLCN2(NM_004366.6):c.1937G>A (p.R646Q) - FAM131A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1957A>T r.(?) p.(Arg653Ter) Unknown - pathogenic g.184071109T>A - CLCN2(NM_004366.5):c.1957A>T (p.R653*) - FAM131A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1981T>A r.(?) p.(Ser661Thr) Unknown - likely benign g.184071085A>T g.184353297A>T CLCN2(NM_001171087.2):c.1930T>A (p.(Ser644Thr)), CLCN2(NM_004366.6):c.1981T>A (p.S661T) - CLCN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1981T>A r.(?) p.(Ser661Thr) Unknown - likely benign g.184071085A>T - CLCN2(NM_001171087.2):c.1930T>A (p.(Ser644Thr)), CLCN2(NM_004366.6):c.1981T>A (p.S661T) - CLCN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2003C>G r.(?) p.(Thr668Ser) Unknown - benign g.184071063G>C g.184353275G>C CLCN2(NM_004366.6):c.2003C>G (p.T668S) - CLCN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2003C>G r.(?) p.(Thr668Ser) Unknown - benign g.184071063G>C - CLCN2(NM_004366.6):c.2003C>G (p.T668S) - CLCN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2017G>T r.(?) p.(Val673Phe) Unknown - VUS g.184071049C>A - CLCN2(NM_004366.6):c.2017G>T (p.V673F) - FAM131A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2028+19A>G r.(=) p.(=) Unknown - benign g.184071019T>C - CLCN2(NM_004366.6):c.2028+19A>G - FAM131A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2063G>A r.(?) p.(Arg688Gln) Unknown - likely benign g.184070901C>T g.184353113C>T CLCN2(NM_001171087.2):c.2012G>A (p.(Arg671Gln)), CLCN2(NM_004366.6):c.2063G>A (p.R688Q) - CLCN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2063G>A r.(?) p.(Arg688Gln) Unknown - benign g.184070901C>T g.184353113C>T CLCN2(NM_001171087.2):c.2012G>A (p.(Arg671Gln)), CLCN2(NM_004366.6):c.2063G>A (p.R688Q) - CLCN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2063G>A r.(?) p.(Arg688Gln) Unknown - likely benign g.184070901C>T g.184353113C>T CLCN2(NM_001171087.2):c.2012G>A (p.(Arg671Gln)), CLCN2(NM_004366.6):c.2063G>A (p.R688Q) - CLCN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 18 c.2068G>T r.(?) p.(Glu690Ter) Both (homozygous) - likely pathogenic g.184070896C>A g.184353108C>A - - CLCN2_000024 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5686 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.2154G>C r.(?) p.(Glu718Asp) Unknown - likely benign g.184070588C>G g.184352800C>G CLCN2(NM_001171087.2):c.2103G>C (p.(Glu701Asp)), CLCN2(NM_004366.6):c.2154G>C (p.E718D) - CLCN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2154G>C r.(?) p.(Glu718Asp) Unknown - likely benign g.184070588C>G g.184352800C>G CLCN2(NM_001171087.2):c.2103G>C (p.(Glu701Asp)), CLCN2(NM_004366.6):c.2154G>C (p.E718D) - CLCN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2157G>A r.(?) p.(Ser719=) Unknown - likely benign g.184070585C>T g.184352797C>T CLCN2(NM_001171087.2):c.2106G>A (p.(Ser702=)) - FAM131A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2261T>C r.(?) p.(Ile754Thr) Unknown - VUS g.184070241A>G g.184352453A>G CLCN2(NM_004366.5):c.2261T>C (p.I754T) - FAM131A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2271+8T>G r.(=) p.(=) Unknown - benign g.184070223A>C g.184352435A>C CLCN2(NM_001171087.2):c.2220+8T>G (p.(=)), CLCN2(NM_004366.6):c.2271+8T>G - CLCN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2271+8T>G r.(=) p.(=) Unknown - likely benign g.184070223A>C g.184352435A>C CLCN2(NM_001171087.2):c.2220+8T>G (p.(=)), CLCN2(NM_004366.6):c.2271+8T>G - CLCN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2415+5_2415+6dup r.spl? p.? Unknown - benign g.184069796_184069797dup g.184352008_184352009dup CLCN2(NM_004366.6):c.2415+5_2415+6dupGG - FAM131A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2415+9A>G r.(=) p.(=) Unknown - benign g.184069792T>C g.184352004T>C CLCN2(NM_001171087.2):c.2364+9A>G (p.(=)), CLCN2(NM_004366.6):c.2415+9A>G - CLCN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2415+9A>G r.(=) p.(=) Unknown - benign g.184069792T>C - CLCN2(NM_001171087.2):c.2364+9A>G (p.(=)), CLCN2(NM_004366.6):c.2415+9A>G - CLCN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2642G>A r.(?) p.(Arg881His) Unknown - likely benign g.184064449C>T g.184346661C>T CLCN2(NM_001171087.2):c.2591G>A (p.(Arg864His)), CLCN2(NM_004366.5):c.2642G>A (p.R881H) - FAM131A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2642G>A r.(?) p.(Arg881His) Unknown - VUS g.184064449C>T g.184346661C>T CLCN2(NM_001171087.2):c.2591G>A (p.(Arg864His)), CLCN2(NM_004366.5):c.2642G>A (p.R881H) - FAM131A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2645A>T r.(?) p.(His882Leu) Unknown - likely benign g.184064446T>A - CLCN2(NM_004366.5):c.2645A>T (p.(His882Leu)) - FAM131A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2683G>A r.(?) p.(Asp895Asn) Unknown - likely benign g.184064408C>T g.184346620C>T CLCN2(NM_004366.5):c.2683G>A (p.D895N) - FAM131A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11747G>A r.(=) p.(=) Unknown - likely benign g.184052647C>T g.184334859C>T EIF4G1(NM_182917.4):c.4754C>T (p.A1585V) - EIF4G1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11747G>A r.(=) p.(=) Unknown - VUS g.184052647C>T g.184334859C>T EIF4G1(NM_182917.4):c.4754C>T (p.A1585V) - EIF4G1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11857G>A r.(=) p.(=) Unknown - likely benign g.184052537C>T - EIF4G1(NM_182917.4):c.4644C>T (p.D1548=) - EIF4G1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11869C>T r.(=) p.(=) Unknown - likely benign g.184052525G>A g.184334737G>A EIF4G1(NM_182917.4):c.4632G>A (p.R1544=) - EIF4G1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*14561T>C r.(=) p.(=) Unknown - VUS g.184049833A>G g.184332045A>G EIF4G1(NM_182917.4):c.4580A>G (p.Y1527C) - EIF4G1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*14587G>A r.(=) p.(=) Unknown - benign g.184049807C>T g.184332019C>T EIF4G1(NM_182917.4):c.4554C>T (p.D1518=) - EIF4G1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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