Full data view for gene CLCN7

Information The variants shown are described using the NM_001287.5 transcript reference sequence.

112 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.-134G>C r.(?) p.(=) Unknown - benign g.1525109C>G g.1475108C>G - - CLCN7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116G>T r.(?) p.(Gly39Val) Unknown - VUS g.1524860C>A g.1474859C>A CLCN7(NM_001114331.2):c.116G>T (p.(Gly39Val)) - CLCN7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121G>C r.(?) p.(Gly41Arg) Unknown - likely benign g.1524855C>G - CLCN7(NM_001287.5):c.121G>C (p.(Gly41Arg)) - CLCN7_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.124C>A r.(?) p.(Pro42Thr) Unknown - likely benign g.1524852G>T - CLCN7(NM_001287.6):c.124C>A (p.P42T) - CLCN7_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126T>C r.(?) p.(Pro42=) Unknown - benign g.1524850A>G g.1474849A>G - - CLCN7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134C>A r.(?) p.(Ala45Glu) Unknown - likely benign g.1524842G>T - CLCN7(NM_001287.6):c.134C>A (p.A45E) - CLCN7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.139C>T r.(?) p.(Gln47*) Maternal (confirmed) ACMG pathogenic (recessive) g.1524837G>A g.1524837G>A - - CLCN7_000062 - - - - Germline - - - - - DNA SEQ-NG-I peripheral blood WES NYS - - - M no ? (unknown) - - - - - 1 Marketa Wayhelova
-?/. - c.143C>T r.(?) p.(Ser48Leu) Unknown - likely benign g.1515338G>A - CLCN7(NM_001287.5):c.143C>T (p.(Ser48Leu)) - CLCN7_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.149G>A r.(?) p.(Arg50His) Unknown - likely benign g.1515332C>T - CLCN7(NM_001287.5):c.149G>A (p.(Arg50His)) - CLCN7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285+12_285+14del r.(=) p.(=) Unknown - likely benign g.1511592_1511594del - CLCN7(NM_001287.6):c.285+12_285+14delTCT - CLCN7_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.296A>G r.(?) p.(Tyr99Cys) Unknown - pathogenic g.1511461T>C - - - CLCN7_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350C>T r.(?) p.(Thr117Met) Unknown - likely benign g.1511407G>A - CLCN7(NM_001114331.2):c.278C>T (p.(Thr93Met)) - CLCN7_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.351+12G>A r.(=) p.(=) Unknown - likely benign g.1511394C>T g.1461393C>T CLCN7(NM_001287.6):c.351+12G>A - CLCN7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.398T>A r.(?) p.(Ile133Asn) Unknown - VUS g.1510903A>T - CLCN7(NM_001287.5):c.398T>A (p.I133N) - CLCN7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.485-10T>C r.(=) p.(=) Unknown - benign g.1510538A>G g.1460537A>G - - CLCN7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.521_523del r.(?) p.(Phe174del) Unknown - VUS g.1510492_1510494del - CLCN7(NM_001114331.2):c.449_451del (p.(Phe150del)) - CLCN7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.612C>T r.(?) p.(Ser204=) Unknown - likely benign g.1509171G>A g.1459170G>A CLCN7(NM_001287.5):c.612C>T (p.S204=), CLCN7(NM_001287.6):c.612C>T (p.S204=) - CLCN7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.612C>T r.(?) p.(Ser204=) Unknown - likely benign g.1509171G>A - CLCN7(NM_001287.5):c.612C>T (p.S204=), CLCN7(NM_001287.6):c.612C>T (p.S204=) - CLCN7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.643G>A r.(?) p.(Gly215Arg) Unknown - pathogenic g.1509140C>T g.1459139C>T - - CLCN7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.660C>T r.(?) p.(His220=) Unknown - benign g.1509123G>A g.1459122G>A - - CLCN7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675+19T>G r.(=) p.(=) Unknown - likely benign g.1509089A>C g.1459088A>C - - CLCN7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678G>A r.(?) p.(Thr226=) Unknown - likely benign g.1507755C>T g.1457754C>T CLCN7(NM_001287.5):c.678G>A (p.T226=) - CLCN7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.696C>T r.(?) p.(Ser232=) Unknown - benign g.1507737G>A g.1457736G>A - - CLCN7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.696C>T r.(=) p.(=) Parent #1 - VUS g.1507737G>A g.1457736G>A - - CLCN7_000010 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117183989 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
-?/. - c.714G>A r.(?) p.(Val238=) Unknown - likely benign g.1507719C>T g.1457718C>T CLCN7(NM_001287.5):c.714G>A (p.V238=) - CLCN7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.730G>A r.(?) p.(Val244Met) Unknown - VUS g.1507703C>T - CLCN7(NM_001287.5):c.730G>A (p.(Val244Met)) - CLCN7_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739-120T>C r.(=) p.(=) Unknown - likely benign g.1507458A>G - CLCN7(NM_001287.6):c.739-120T>C - CLCN7_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739-20C>T r.(=) p.(=) Unknown - likely benign g.1507358G>A g.1457357G>A - - CLCN7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.739-18G>A r.(=) p.(=) Both (homozygous) - likely pathogenic (recessive) g.1507356C>T g.1457355C>T NM_001287.5:c.739-18G>A:p.(Met250Argfs*6) - CLCN7_000033 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 16DG1620, 16DG1621 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - 2 LOVD
+?/. - c.746C>T r.(?) p.(Pro249Leu) Unknown - likely pathogenic g.1507331G>A g.1457330G>A - - CLCN7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774C>T r.(?) p.(Ala258=) Unknown - likely benign g.1507303G>A - CLCN7(NM_001287.5):c.774C>T (p.A258=) - CLCN7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.811C>T r.(?) p.(Arg271*) Paternal (confirmed) ACMG pathogenic (recessive) g.1507266G>A g.1457265G>A - - CLCN7_000061 - - - - Germline - - - - - DNA SEQ-NG-I peripheral blood WES NYS - - - M no ? (unknown) - - - - - 1 Marketa Wayhelova
-/. - c.822+17T>C r.(=) p.(=) Unknown - benign g.1507238A>G g.1457237A>G - - CLCN7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.838C>T r.(?) p.(Arg280Cys) Unknown - likely pathogenic g.1506192G>A - - - CLCN7_000053 - - - rs1395527274 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.856C>T r.(?) p.(Arg286Trp) Unknown - likely pathogenic g.1506174G>A - CLCN7(NM_001287.6):c.856C>T (p.R286W) - CLCN7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.856C>T r.(?) p.(Arg286Trp) Unknown - pathogenic g.1506174G>A - CLCN7(NM_001287.6):c.856C>T (p.R286W) - CLCN7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864C>T r.(?) p.(=) Unknown - likely benign g.1506166G>A - CLCN7(NM_001287.6):c.864C>T (p.(Phe288=)) - CLCN7_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.875G>A r.(?) p.(Gly292Glu) Unknown - pathogenic g.1506155C>T - - - CLCN7_000050 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899C>T r.(?) p.(Ala300Val) Unknown - VUS g.1506131G>A g.1456130G>A - - CLCN7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.900G>A r.(?) p.(Ala300=) Unknown - benign g.1506130C>T g.1456129C>T CLCN7(NM_001114331.2):c.828G>A (p.(Ala276=)) - CLCN7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900G>A r.(?) p.(Ala300=) Unknown - likely benign g.1506130C>T g.1456129C>T CLCN7(NM_001114331.2):c.828G>A (p.(Ala276=)) - CLCN7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.917-18C>T r.(=) p.(=) Unknown - likely benign g.1505814G>A g.1455813G>A CLCN7(NM_001287.6):c.917-18C>T - CLCN7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.917-18C>T r.(=) p.(=) Unknown - likely benign g.1505814G>A - CLCN7(NM_001287.6):c.917-18C>T - CLCN7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.917-17G>A r.(=) p.(=) Unknown - likely benign g.1505813C>T - CLCN7(NM_001287.6):c.917-17G>A - CLCN7_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.921G>A r.(?) p.(Gly307=) Unknown - likely benign g.1505792C>T - CLCN7(NM_001287.6):c.921G>A (p.G307=) - CLCN7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.922G>T r.(?) p.(Val308Phe) Unknown ACMG likely pathogenic (dominant) g.1505791C>A - - - CLCN7_000035 ACMG PP4, PM2, PP3, PP2, PM6 PubMed: Silveira 2021, Journal: Silveira 2021 - - De novo - - - - - DNA SEQ-NG-I blood - OPTA2 Pat8 PubMed: Silveira 2021, Journal: Silveira 2021 - F no Brazil - - - - - 1 Maria Dora Jazmin Lacarrubba-Flores
+?/. - c.981+3A>C r.spl? p.? Unknown - likely pathogenic g.1505729T>G - - - CLCN7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1004C>T r.(?) p.(Thr335Met) Unknown - VUS g.1505229G>A g.1455228G>A CLCN7(NM_001287.5):c.1004C>T (p.T335M) - CLCN7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1030A>G r.(?) p.(Ile344Val) Unknown - likely benign g.1505203T>C - CLCN7(NM_001114331.2):c.958A>G (p.(Ile320Val)) - CLCN7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1098+15C>T r.(=) p.(=) Unknown - likely benign g.1505120G>A - CLCN7(NM_001287.6):c.1098+15C>T - CLCN7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1127C>T r.(?) p.(Pro376Leu) Unknown - likely pathogenic g.1504438G>A - CLCN7(NM_001287.6):c.1127C>T (p.P376L) - CLCN7_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1128G>A r.(?) p.(Pro376=) Unknown - benign g.1504437C>T g.1454436C>T - - CLCN7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1138G>A r.(?) p.(Ala380Thr) Unknown - VUS g.1504427C>T - CLCN7(NM_001287.6):c.1138G>A (p.(Ala380Thr)) - CLCN7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1154-4G>A r.spl? p.? Unknown - likely benign g.1503899C>T - CLCN7(NM_001287.6):c.1154-4G>A - CLCN7_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1170A>T r.(?) p.(Ala390=) Unknown - benign g.1503879T>A g.1453878T>A CLCN7(NM_001287.6):c.1170A>T (p.A390=) - CLCN7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1170A>T r.(?) p.(Ala390=) Unknown - benign g.1503879T>A g.1453878T>A CLCN7(NM_001287.6):c.1170A>T (p.A390=) - CLCN7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1225C>T r.(?) p.(Arg409Trp) Unknown - VUS g.1502884G>A - CLCN7(NM_001287.6):c.1225C>T (p.(Arg409Trp)) - CLCN7_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1245T>C r.(?) p.(Ile415=) Unknown - benign g.1502864A>G g.1452863A>G - - CLCN7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1252G>A r.(?) p.(Val418Met) Unknown - benign g.1502857C>T g.1452856C>T CLCN7(NM_001287.6):c.1252G>A (p.V418M) - CLCN7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1252G>A r.(?) p.(Val418Met) Unknown - benign g.1502857C>T g.1452856C>T CLCN7(NM_001287.6):c.1252G>A (p.V418M) - CLCN7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1252G>A r.(?) p.(Val418Met) Unknown - benign g.1502857C>T - - - CLCN7_000002 - - - rs12926089 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1267G>A r.(?) p.(Val423Ile) Unknown - VUS g.1502842C>T - CLCN7(NM_001287.5):c.1267G>A (p.(Val423Ile)) - CLCN7_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302G>A r.(?) p.(Ser434=) Unknown - likely benign g.1502807C>T - CLCN7(NM_001287.5):c.1302G>A (p.S434=) - CLCN7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1354-7C>T r.(=) p.(=) Unknown - likely benign g.1501724G>A g.1451723G>A CLCN7(NM_001287.5):c.1354-7C>T - CLCN7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1354-5C>G r.spl? p.? Unknown - VUS g.1501722G>C - CLCN7(NM_001114331.2):c.1282-5C>G (p.?) - CLCN7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1447+8_1447+9del r.(=) p.(=) Unknown - likely benign g.1501622_1501623del - CLCN7(NM_001114331.2):c.1375+8_1375+9del (p.(=)) - CLCN7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1452C>G r.(?) p.(Ser484=) Unknown - likely benign g.1500663G>C g.1450662G>C - - CLCN7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1471G>A r.(?) p.(Gly491Ser) Unknown - likely benign g.1500644C>T - CLCN7(NM_001287.5):c.1471G>A (p.(Gly491Ser)) - CLCN7_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1495_1497del r.(?) p.(Phe499del) Unknown - VUS g.1500622_1500624del - CLCN7(NM_001287.6):c.1495_1497del (p.(Phe499del)) - CLCN7_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548G>A r.(?) p.(=) Unknown - likely benign g.1500567C>T - CLCN7(NM_001287.6):c.1548G>A (p.P516=) - CLCN7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1617+13G>A r.(=) p.(=) Unknown - likely benign g.1500485C>T - CLCN7(NM_001287.6):c.1617+13G>A - CLCN7_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1755G>A r.(?) p.(Leu585=) Unknown - likely benign g.1499009C>T - CLCN7(NM_001287.5):c.1755G>A (p.L585=) - CCDC154_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1797+16G>A r.(=) p.(=) Unknown - benign g.1498951C>T g.1448950C>T - - CCDC154_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1798-10C>T r.(=) p.(=) Unknown - benign g.1498777G>A g.1448776G>A - - CCDC154_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1798-8G>A r.(=) p.(=) Unknown - benign g.1498775C>T g.1448774C>T - - CCDC154_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1808A>G r.(?) p.(Asp603Gly) Unknown - VUS g.1498757T>C - CLCN7(NM_001287.5):c.1808A>G (p.(Asp603Gly)) - CCDC154_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1883+7C>T r.(=) p.(=) Unknown - likely benign g.1498675G>A g.1448674G>A CLCN7(NM_001114331.2):c.1811+7C>T (p.(=)), CLCN7(NM_001287.5):c.1883+7C>T, CLCN7(NM_001287.6):c.1883+7C>T - CLCN7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1883+7C>T r.(=) p.(=) Unknown - likely benign g.1498675G>A g.1448674G>A CLCN7(NM_001114331.2):c.1811+7C>T (p.(=)), CLCN7(NM_001287.5):c.1883+7C>T, CLCN7(NM_001287.6):c.1883+7C>T - CLCN7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1883+7C>T r.(=) p.(=) Unknown - likely benign g.1498675G>A - CLCN7(NM_001114331.2):c.1811+7C>T (p.(=)), CLCN7(NM_001287.5):c.1883+7C>T, CLCN7(NM_001287.6):c.1883+7C>T - CLCN7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1884-16C>T r.(=) p.(=) Unknown - benign g.1498501G>A g.1448500G>A - - CLCN7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1884-8T>G r.(=) p.(=) Unknown - VUS g.1498493A>C - CLCN7(NM_001114331.2):c.1812-8T>G (p.(=)) - CCDC154_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1961C>T r.(?) p.(Thr654Met) Unknown - benign g.1498408G>A g.1448407G>A CLCN7(NM_001287.5):c.1961C>T (p.T654M) - CCDC154_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1977C>T r.(?) p.(Asn659=) Unknown - likely benign g.1498392G>A - CLCN7(NM_001287.5):c.1977C>T (p.N659=) - CCDC154_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2014-16C>A r.(=) p.(=) Unknown - likely benign g.1497731G>T - CLCN7(NM_001287.6):c.2014-16C>A - CCDC154_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2014-5T>C r.spl? p.? Unknown - likely benign g.1497720A>G - CLCN7(NM_001287.6):c.2014-5T>C - CCDC154_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2021G>A r.(?) p.(Arg674Gln) Unknown - VUS g.1497708C>T g.1447707C>T CLCN7(NM_001287.5):c.2021G>A (p.(Arg674Gln)) - CCDC154_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2021G>A r.(?) p.(Arg674Gln) Unknown - likely benign g.1497708C>T - CLCN7(NM_001287.5):c.2021G>A (p.(Arg674Gln)) - CCDC154_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2073+16C>T r.(=) p.(=) Unknown - benign g.1497640G>A g.1447639G>A - - CCDC154_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2074-5C>T r.spl? p.? Unknown - likely benign g.1497574G>A - CLCN7(NM_001287.6):c.2074-5C>T - CCDC154_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2098G>A r.(?) p.(Gly700Ser) Unknown - likely benign g.1497545C>T - CLCN7(NM_001287.6):c.2098G>A (p.(Gly700Ser)) - CCDC154_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2144A>G r.(?) p.(Tyr715Cys) Unknown - pathogenic (dominant) g.1497499T>C g.1447498T>C - - CLCN7_000014 - PubMed: Fichtman 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? patient 1 PubMed: Fichtman 2019 - F - United States white - - - - 1 Johan den Dunnen
+/. - c.2144A>G r.(?) p.(Tyr715Cys) Unknown - pathogenic (dominant) g.1497499T>C g.1447498T>C - - CLCN7_000014 - PubMed: Fichtman 2019 - - De novo - - - - - DNA SEQ - WES ? patient 2 PubMed: Fichtman 2019 - M - Ghana - - - - - 1 Johan den Dunnen
-?/. - c.2187C>G r.(?) p.(Asp729Glu) Unknown - likely benign g.1497456G>C g.1447455G>C CLCN7(NM_001287.5):c.2187C>G (p.D729E) - CCDC154_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2192G>T r.(?) p.(Arg731Leu) Unknown - VUS g.1497451C>A - CLCN7(NM_001287.6):c.2192G>T (p.R731L) - CCDC154_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2250_2250+7dup r.spl? p.? Unknown - likely benign g.1497386_1497393dup - CLCN7(NM_001287.5):c.2250_2250+7dupGGCATGTG (p.?) - CCDC154_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2274C>G r.(?) p.(Phe758Leu) Unknown - likely pathogenic g.1497064G>C g.1447063G>C - - CCDC154_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2299C>T r.(?) p.(Arg767Trp) Unknown - pathogenic g.1497039G>A - CLCN7(NM_001287.6):c.2299C>T (p.R767W) - CCDC154_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2305C>G r.(?) p.(Leu769Val) Unknown - VUS g.1497033G>C - CLCN7(NM_001287.5):c.2305C>G (p.(Leu769Val)) - CCDC154_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2330A>G r.(?) p.(Gln777Arg) Unknown - VUS g.1497008T>C g.1447007T>C CLCN7(NM_001114331.2):c.2258A>G (p.(Gln753Arg)), CLCN7(NM_001287.6):c.2330A>G (p.Q777R) - CCDC154_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2330A>G r.(?) p.(Gln777Arg) Unknown - likely benign g.1497008T>C g.1447007T>C CLCN7(NM_001114331.2):c.2258A>G (p.(Gln753Arg)), CLCN7(NM_001287.6):c.2330A>G (p.Q777R) - CCDC154_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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