Full data view for gene SLC12A6

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_133647.1 transcript reference sequence.

150 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.-6360G>C r.(?) p.(=) Unknown - likely benign g.34635241C>G g.34343040C>G NOP10(NM_018648.3):c.34G>C (p.(Asp12His)) - NOP10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5443G>C r.(?) p.(=) Unknown - benign g.34634324C>G g.34342123C>G NOP10(NM_018648.4):c.55-15G>C - NOP10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5443G>C r.(?) p.(=) Unknown - benign g.34634324C>G g.34342123C>G NOP10(NM_018648.4):c.55-15G>C - NOP10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5438C>A r.(?) p.(=) Unknown - likely benign g.34634319G>T - NOP10(NM_018648.3):c.55-10C>A - C15orf55_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5437C>T r.(?) p.(=) Unknown - likely benign g.34634318G>A - NOP10(NM_018648.3):c.55-9C>T - C15orf55_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5437C>T r.(?) p.(=) Unknown - likely benign g.34634318G>A - NOP10(NM_018648.3):c.55-9C>T - C15orf55_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5139G>A r.(?) p.(=) Unknown - benign g.34634020C>T g.34341819C>T NOP10(NM_018648.3):c.*149G>A - NOP10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-143G>A r.(?) p.(=) Unknown - benign g.34629024C>T g.34336823C>T SLC12A6(NM_133647.2):c.-143G>A - SLC12A6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_-1)_(*1_?)del r.0? p.0 Unknown - likely pathogenic (recessive) g.(?_34526081)_(34628882_?)del g.(?_34233880)_(34336681_?)del c.(?_-1)_(*1_?)del - SLC12A6_000086 AR, biparental inheritance and segregates with disease PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.142C>T r.(?) p.(Arg48Trp) Unknown - VUS g.34628740G>A g.34336539G>A SLC12A6(NM_001042496.1):c.115C>T (p.R39W) - SLC12A6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231A>G r.(?) p.(Pro77=) Unknown - likely benign g.34628651T>C g.34336450T>C SLC12A6(NM_001042496.1):c.204A>G (p.P68=) - SLC12A6_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.236G>A r.(?) p.(Ser79Asn) Unknown - VUS g.34628646C>T - SLC12A6(NM_133647.2):c.236G>A (p.S79N) - SLC12A6_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.271+41G>A r.(=) p.(=) Parent #1 - benign g.34628570C>T g.34336369C>T - - SLC12A6_000007 - - - rs347836 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.271+17647C>G r.(=) p.(=) Unknown - benign g.34610964G>C g.34318763G>C SLC12A6(NM_005135.2):c.-85C>G - SLC12A6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.271+17825C>T r.(=) p.(=) Unknown - likely benign g.34610786G>A g.34318585G>A SLC12A6(NM_005135.2):c.94C>T (p.R32W) - SLC12A6_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.271+17825C>T r.(=) p.(=) Unknown - benign g.34610786G>A g.34318585G>A SLC12A6(NM_005135.2):c.94C>T (p.R32W) - SLC12A6_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271+17826G>A r.(=) p.(=) Unknown - VUS g.34610785C>T g.34318584C>T SLC12A6(NM_005135.2):c.95G>A (p.(Arg32Gln)) - SLC12A6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.271+17827G>A r.(=) p.(=) Unknown - likely benign g.34610784C>T g.34318583C>T SLC12A6(NM_005135.2):c.96G>A (p.R32=) - SLC12A6_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.271+17853A>C r.(=) p.(=) Unknown - likely benign g.34610758T>G - SLC12A6(NM_005135.2):c.118+4A>C - SLC12A6_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293C>A r.(?) p.(Thr98Lys) Unknown - VUS g.34567569G>T - SLC12A6(NM_001365088.1):c.293C>A (p.T98K) - SLC12A6_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.317-5del r.spl? p.? Unknown - benign g.34553235del g.34261034del SLC12A6(NM_001042496.2):c.290-5delT - SLC12A6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.317-5del r.spl? p.? Unknown - likely benign g.34553235del g.34261034del SLC12A6(NM_001042496.2):c.290-5delT - SLC12A6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.317-5dup r.spl? p.? Unknown - benign g.34553235dup g.34261034dup SLC12A6(NM_001042496.2):c.290-5dupT - SLC12A6_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.318C>T r.(?) p.(Asp106=) Unknown - benign g.34553220G>A g.34261019G>A SLC12A6(NM_001042496.1):c.291C>T (p.D97=), SLC12A6(NM_133647.2):c.318C>T (p.D106=) - SLC12A6_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.318C>T r.(?) p.(Asp106=) Unknown - benign g.34553220G>A g.34261019G>A SLC12A6(NM_001042496.1):c.291C>T (p.D97=), SLC12A6(NM_133647.2):c.318C>T (p.D106=) - SLC12A6_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321C>T r.(?) p.(Asp107=) Unknown - likely benign g.34553217G>A - SLC12A6(NM_001365088.1):c.321C>T (p.D107=) - SLC12A6_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338G>A r.(?) p.(Arg113Gln) Unknown - VUS g.34553200C>T - SLC12A6(NM_133647.2):c.338G>A (p.R113Q) - SLC12A6_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.408T>C r.(?) p.(Phe136=) Unknown - benign g.34553130A>G g.34260929A>G SLC12A6(NM_001042496.2):c.381T>C (p.F127=) - SLC12A6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475C>T r.(?) p.(Leu159=) Unknown - benign g.34551082G>A g.34258881G>A SLC12A6(NM_001042496.2):c.448C>T (p.L150=) - SLC12A6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475C>T r.(?) p.(Leu159=) Unknown - benign g.34551082G>A g.34258881G>A SLC12A6(NM_001042496.2):c.448C>T (p.L150=) - SLC12A6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.495A>C r.(?) p.(Glu165Asp) Unknown - VUS g.34551062T>G g.34258861T>G SLC12A6(NM_001042496.2):c.468A>C (p.E156D) - SLC12A6_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.544-21dup r.(=) p.(=) Unknown - benign g.34550015dup g.34257814dup SLC12A6(NM_001042496.2):c.517-21dupT - SLC12A6_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.619C>T r.(?) p.(Arg207Cys) Both (homozygous) - pathogenic g.34549914G>A g.34257713G>A - - SLC12A6_000011 not in 184 control chromosomes PubMed: Uyanik 2006, Journal: Uyanik 2006, OMIM:var0008 - rs121908429 Germline yes 1/3 cases - - - DNA SEQ - - ACCPN - PubMed: Uyanik 2006, Journal: Uyanik 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd degree) M yes Turkey - >10y06m - - - 1 Johan den Dunnen
+/+ 5 c.619C>T r.619c>u p.Arg207Cys Both (homozygous) - pathogenic g.34549914G>A g.34257713G>A - - SLC12A6_000011 - PubMed: Salin-Cantegrel 2011, Journal: Salin-Cantegrel 2011 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ACCPN - PubMed: Salin-Cantegrel 2011, Journal: Salin-Cantegrel 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+?/. - c.619C>T r.(?) p.(Arg207Cys) Unknown - likely pathogenic (recessive) g.34549914G>A g.34257713G>A - - SLC12A6_000011 - - - - Germline - - - - - DNA SEQ-NG - - ACCPN - - - - - - - - - - - 1 Min Peng
?/. - c.620G>A r.(?) p.(Arg207His) Unknown - VUS g.34549913C>T g.34257712C>T SLC12A6(NM_001042496.2):c.593G>A (p.R198H) - SLC12A6_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.620G>A r.(?) p.(Arg207His) Unknown - pathogenic (dominant) g.34549913C>T g.34257712C>T - - SLC12A6_000068 - PubMed: Park 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat1 PubMed: Park 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - 1 Johan den Dunnen
+/. - c.620G>A r.(?) p.(Arg207His) Unknown - pathogenic (dominant) g.34549913C>T g.34257712C>T - - SLC12A6_000068 - PubMed: Park 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat2 PubMed: Park 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+?/. - c.745+2T>A r.(?) p.(?) Both (homozygous) - likely pathogenic g.34548428A>T g.34256227A>T SLC12A6 c.745+2T>A, - SLC12A6_000094 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease 155 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - - - - 1 LOVD
-/. - c.876+11A>G r.(=) p.(=) Unknown - benign g.34547452T>C g.34255251T>C SLC12A6(NM_001042496.2):c.849+11A>G - SLC12A6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901A>G r.(?) p.(Ile301Val) Unknown - VUS g.34546766T>C g.34254565T>C SLC12A6(NM_001042496.2):c.874A>G (p.I292V), SLC12A6(NM_001365088.1):c.901A>G (p.(Ile301Val)) - SLC12A6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901A>G r.(?) p.(Ile301Val) Unknown - VUS g.34546766T>C - SLC12A6(NM_001042496.2):c.874A>G (p.I292V), SLC12A6(NM_001365088.1):c.901A>G (p.(Ile301Val)) - SLC12A6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901A>G r.(?) p.(Ile301Val) Unknown - VUS g.34546766T>C - SLC12A6(NM_001042496.2):c.874A>G (p.I292V), SLC12A6(NM_001365088.1):c.901A>G (p.(Ile301Val)) - SLC12A6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.901del r.(?) p.(Ile301Serfs*15) Both (homozygous) - pathogenic g.34546766del g.34254565del 901delA - SLC12A6_000012 - PubMed: Uyanik 2006, Journal: Uyanik 2006, OMIM:var0007 - rs606231157 Germline yes 1/3 cases - - - DNA SEQ - - ACCPN - PubMed: Uyanik 2006, Journal: Uyanik 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - >05y - - - 1 Johan den Dunnen
+?/. - c.901del r.(?) p.(Ile301SerfsTer15) Unknown - likely pathogenic g.34546766del g.34254565del SLC12A6(NM_133647.2):c.901delA (p.I301Sfs*15) - SLC12A6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.963C>T r.(=) p.(=) Parent #1 - benign g.34546704G>A g.34254503G>A - - SLC12A6_000006 - - - rs35583475 Germline - - - - - DNA SEQ - - ACCPN - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.963C>T r.(?) p.(Tyr321=) Unknown - benign g.34546704G>A g.34254503G>A SLC12A6(NM_001042496.2):c.936C>T (p.Y312=) - SLC12A6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.963C>T r.(=) p.(=) Parent #1 - likely benign g.34546704G>A g.34254503G>A - - SLC12A6_000006 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35583475 Germline - 15/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
?/. - c.1012C>T r.(?) p.(Arg338Cys) Unknown - VUS g.34546655G>A g.34254454G>A SLC12A6(NM_001042494.1):c.835C>T (p.(Arg279Cys)) - SLC12A6_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1074C>G r.(?) p.(Ile358Met) Unknown - VUS g.34546593G>C g.34254392G>C SLC12A6(NM_001042496.1):c.1047C>G (p.I349M) - SLC12A6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1097_1099del r.(?) p.(Ser366del) Unknown - VUS g.34546572_34546574del - SLC12A6(NM_133647.2):c.1097_1099delCTT (p.S366del) - SLC12A6_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i c.1118+1G>A r.spl? p.? Paternal (confirmed) - pathogenic g.34546548C>T g.34254347C>T - - SLC12A6_000023 not in 100 control chromosomes PubMed: Rudnik-Schoneborn 2009, Journal: Rudnik-Schoneborn 2009 - - Germline yes - - - - DNA SEQ - - ACCPN - PubMed: Rudnik-Schoneborn 2009, Journal: Rudnik-Schoneborn 2009 2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents - no Germany - - - - - 2 Johan den Dunnen
-?/. - c.1119-16A>G r.(=) p.(=) Unknown - likely benign g.34544601T>C g.34252400T>C SLC12A6(NM_001042496.2):c.1092-16A>G - SLC12A6_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1139G>A r.(?) p.(Arg380His) Unknown - VUS g.34544565C>T g.34252364C>T SLC12A6(NM_001042496.2):c.1112G>A (p.R371H) - SLC12A6_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164C>T r.(?) p.(Asp388=) Unknown - likely benign g.34544540G>A g.34252339G>A SLC12A6(NM_001365088.1):c.1164C>T (p.D388=), SLC12A6(NM_133647.1):c.1164C>T (p.D388=), SLC12A6(NM_133647.2):c.1164C>T (p.D388=) - SLC12A6_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164C>T r.(?) p.(Asp388=) Unknown - likely benign g.34544540G>A - SLC12A6(NM_001365088.1):c.1164C>T (p.D388=), SLC12A6(NM_133647.1):c.1164C>T (p.D388=), SLC12A6(NM_133647.2):c.1164C>T (p.D388=) - SLC12A6_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164C>T r.(?) p.(Asp388=) Unknown - likely benign g.34544540G>A - SLC12A6(NM_001365088.1):c.1164C>T (p.D388=), SLC12A6(NM_133647.1):c.1164C>T (p.D388=), SLC12A6(NM_133647.2):c.1164C>T (p.D388=) - SLC12A6_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1216T>C r.(?) p.(Trp406Arg) Unknown - VUS g.34544488A>G g.34252287A>G SLC12A6(NM_001042496.2):c.1189T>C (p.W397R) - SLC12A6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1231A>T r.(?) p.(Asn411Tyr) Unknown - VUS g.34544473T>A - SLC12A6(NM_133647.1):c.1231A>T (p.(Asn411Tyr)) - SLC12A6_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1236G>A r.(=) p.(=) Parent #1 - benign g.34544468C>T g.34252267C>T - - SLC12A6_000005 - - - rs2290940 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1236G>A r.(?) p.(Ser412=) Unknown - benign g.34544468C>T g.34252267C>T SLC12A6(NM_001042496.2):c.1209G>A (p.S403=) - SLC12A6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1267T>C r.(?) p.(Tyr423His) Unknown - VUS g.34544437A>G g.34252236A>G SLC12A6(NM_001042496.1):c.1240T>C (p.Y414H) - SLC12A6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1269C>T r.(?) p.(=) Unknown - benign g.34544435G>A - SLC12A6(NM_001365088.1):c.1269C>T (p.Y423=) - SLC12A6_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1284C>T r.(?) p.(Asn428=) Unknown - benign g.34544420G>A g.34252219G>A SLC12A6(NM_001042496.2):c.1257C>T (p.N419=) - SLC12A6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322G>A r.(?) p.(Gly441Asp) Unknown - VUS g.34544382C>T - SLC12A6(NM_001365088.1):c.1322G>A (p.(Gly441Asp)) - SLC12A6_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1333+20G>T r.(=) p.(=) Parent #1 - benign g.34544351C>A g.34252150C>A - - SLC12A6_000004 - - - rs2290941 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1333+20G>T r.(=) p.(=) Unknown - benign g.34544351C>A g.34252150C>A SLC12A6(NM_001042496.2):c.1306+20G>T - SLC12A6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1412G>C r.(?) p.(Ser471Thr) Unknown - benign g.34543180C>G g.34250979C>G SLC12A6(NM_001042496.1):c.1385G>C (p.S462T), SLC12A6(NM_001042496.2):c.1385G>C (p.S462T), SLC12A6(NM_133647.2):c.1412G>C (p.S471T) - SLC12A6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1412G>C r.(?) p.(Ser471Thr) Unknown - likely benign g.34543180C>G g.34250979C>G SLC12A6(NM_001042496.1):c.1385G>C (p.S462T), SLC12A6(NM_001042496.2):c.1385G>C (p.S462T), SLC12A6(NM_133647.2):c.1412G>C (p.S471T) - SLC12A6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1412G>C r.(?) p.(Ser471Thr) Unknown - likely benign g.34543180C>G g.34250979C>G SLC12A6(NM_001042496.1):c.1385G>C (p.S462T), SLC12A6(NM_001042496.2):c.1385G>C (p.S462T), SLC12A6(NM_133647.2):c.1412G>C (p.S471T) - SLC12A6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1471_1478del r.(?) p.(Ile491SerfsTer50) Unknown - likely pathogenic g.34543114_34543121del g.34250913_34250920del SLC12A6(NM_133647.2):c.1471_1478delTTCCCTCT (p.I491Sfs*50) - SLC12A6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1478_1485del r.1478_1485del p.Phe493Cysfs*48 Paternal (confirmed) - pathogenic g.34543110_34543117del g.34250909_34250916del 1478_1485delTTCCCTCT - SLC12A6_000013 - PubMed: Uyanik 2006, Journal: Uyanik 2006, OMIM:var0006 - rs515726218 Germline yes 1/3 cases - - - DNA, RNA RT-PCR, SEQ - - ACCPN - PubMed: Uyanik 2006, Journal: Uyanik 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - >03y06m - - - 1 Johan den Dunnen
-?/. - c.1492+8C>T r.(=) p.(=) Unknown - likely benign g.34543092G>A - SLC12A6(NM_001365088.1):c.1492+8C>T - SLC12A6_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1492+45C>T r.(=) p.(=) Parent #1 - benign g.34543055G>A g.34250854G>A - - SLC12A6_000003 - - - rs10851964 Germline - - - - - DNA SEQ - - ACCPN - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1551G>C r.(=) p.(=) Parent #1 - benign g.34542872C>G g.34250671C>G - - SLC12A6_000002 - - - rs17236798 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1551G>C r.(?) p.(Pro517=) Unknown - benign g.34542872C>G g.34250671C>G SLC12A6(NM_001042496.2):c.1524G>C (p.P508=) - SLC12A6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1551G>C r.(?) p.(Pro517=) Unknown - benign g.34542872C>G g.34250671C>G SLC12A6(NM_001042496.2):c.1524G>C (p.P508=) - SLC12A6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1584_1585delinsG r.(?) p.(Phe529Leufs*4) Parent #1 - pathogenic g.34542838_34542839delinsC g.34250637_34250638delinsC 1584_1585delCTinsG - SLC12A6_000014 not in 220 control chromosomes PubMed: Howard 2002, Journal: Howard 2002, OMIM:var0002 - rs515726216 Germline yes 1/81 cases - - - DNA SEQ - - ACCPN - PubMed: Howard 2002, Journal: Howard 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Canada French Canadian - - - - 1 Johan den Dunnen
+?/. - c.1592-2A>G r.spl p.? Unknown - likely pathogenic (recessive) g.34542558T>C g.34250357T>C - - SLC12A6_000087 AR, biparental inheritance and segregates with disease PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1598G>A r.(?) p.(Ser533Asn) Unknown - VUS g.34542550C>T - - - SLC12A6_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1616G>A r.(?) p.(Gly539Asp) Maternal (confirmed) - pathogenic g.34542532C>T g.34250331C>T - - SLC12A6_000015 - PubMed: Rudnik-Schoneborn 2009, Journal: Rudnik-Schoneborn 2009 - - Germline yes - - - - DNA SEQ - - ACCPN - PubMed: Rudnik-Schoneborn 2009, Journal: Rudnik-Schoneborn 2009 2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents - no Germany - - - - - 2 Johan den Dunnen
-?/. - c.1632G>A r.(?) p.(Gly544=) Unknown - likely benign g.34542516C>T g.34250315C>T SLC12A6(NM_001042496.1):c.1605G>A (p.G535=) - SLC12A6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1645G>A r.(?) p.(Asp549Asn) Unknown - VUS g.34542503C>T g.34250302C>T SLC12A6(NM_001042496.2):c.1618G>A (p.D540N) - SLC12A6_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1649+20G>A r.(=) p.(=) Unknown - benign g.34542479C>T g.34250278C>T SLC12A6(NM_001042496.2):c.1622+20G>A - SLC12A6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1682T>C r.(?) p.(Val561Ala) Unknown - VUS g.34538036A>G g.34245835A>G SLC12A6(NM_001042496.1):c.1655T>C (p.V552A) - SLC12A6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1778G>A r.(?) p.(Arg593Lys) Unknown - VUS g.34537940C>T - SLC12A6(NM_001365088.1):c.1778G>A (p.R593K) - SLC12A6_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1797C>A r.(?) p.(Ala599=) Unknown - likely benign g.34537921G>T - SLC12A6(NM_001365088.1):c.1797C>A (p.A599=) - SLC12A6_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1800G>T r.(?) p.(Lys600Asn) Unknown - VUS g.34537918C>A g.34245717C>A SLC12A6(NM_133647.1):c.1800G>T (p.K600N) - SLC12A6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1825-13C>T r.(=) p.(=) Unknown - benign g.34537617G>A g.34245416G>A SLC12A6(NM_001042496.2):c.1798-13C>T - SLC12A6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1906A>G r.(?) p.(Ile636Val) Unknown - VUS g.34537523T>C - SLC12A6(NM_001365088.1):c.1906A>G (p.(Ile636Val)) - SLC12A6_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1918G>A r.(?) p.(Asp640Asn) Unknown - VUS g.34537511C>T - SLC12A6(NM_001365088.1):c.1918G>A (p.D640N) - SLC12A6_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1943+15T>C r.(=) p.(=) Unknown - likely benign g.34537471A>G g.34245270A>G SLC12A6(NM_001042496.2):c.1916+15T>C, SLC12A6(NM_133647.2):c.1943+15T>C - SLC12A6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1943+15T>C r.(=) p.(=) Unknown - benign g.34537471A>G - SLC12A6(NM_001042496.2):c.1916+15T>C, SLC12A6(NM_133647.2):c.1943+15T>C - SLC12A6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1943+51G>A r.(=) p.(=) Parent #1 - benign g.34537435C>T g.34245234C>T - - SLC12A6_000001 - - - rs4371122 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1944-19C>T r.(=) p.(=) Unknown - benign g.34536292G>A - SLC12A6(NM_001365088.1):c.1944-19C>T - SLC12A6_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2003G>A r.(?) p.(Arg668Gln) Unknown - VUS g.34536214C>T g.34244013C>T SLC12A6(NM_133647.2):c.2003G>A (p.R668Q) - SLC12A6_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 15 c.2023C>T r.(?) p.(Arg675*) Both (homozygous) - pathogenic g.34536194G>A g.34243993G>A - - SLC12A6_000016 - PubMed: Howard 2002, Journal: Howard 2002, OMIM:var0004 - rs121908428 Germline yes - - - - DNA SEQ - - ACCPN - PubMed: Howard 2002, Journal: Howard 2002 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - Italy - - - - - 2 Johan den Dunnen
+/. - c.2023C>T r.(?) p.(Arg675Ter) Unknown - pathogenic g.34536194G>A g.34243993G>A SLC12A6(NM_001042496.2):c.1996C>T (p.R666*), SLC12A6(NM_133647.2):c.2023C>T (p.R675*) - SLC12A6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2023C>T r.(?) p.(Arg675Ter) Unknown - likely pathogenic g.34536194G>A g.34243993G>A SLC12A6(NM_001042496.2):c.1996C>T (p.R666*), SLC12A6(NM_133647.2):c.2023C>T (p.R675*) - SLC12A6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 15 c.2031dup r.(?) p.(Tyr678Leufs*41) Maternal (confirmed) - pathogenic g.34536186dup g.34243985dup 2031_2032insT - SLC12A6_000017 - PubMed: Uyanik 2006, Journal: Uyanik 2006, OMIM:var0005 - rs515726217 Germline yes 1/3 cases - - - DNA, RNA RT-PCR, SEQ - - ACCPN - PubMed: Uyanik 2006, Journal: Uyanik 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - >03y06m - - - 1 Johan den Dunnen
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