Unique variants in the SLC12A1 gene

Information The variants shown are described using the NM_000338.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.173T>C r.(?) p.(Leu58Pro) - VUS g.48500089T>C g.48207892T>C SLC12A1(NM_000338.2):c.173T>C (p.(Leu58Pro)) - CTXN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.337-339dup r.(?) p.(Glu113dup) - pathogenic (recessive) g.48500253_48500255dup g.48208056_48208058dup - - SLC12A1_000036 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 - c.347G>A r.(?) p.(Arg116His) - likely benign, VUS g.48500263G>A g.48208066G>A SLC12A1(NM_000338.2):c.347G>A (p.R116H, p.(Arg116His)) - CTXN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 1 - c.463G>A r.(?) p.(Gly155Ser) - likely pathogenic g.48512873G>A g.48220676G>A SLC12A1(NM_000338.2):c.463G>A(p.G155S)/c.3207G>T(p.L1069F) - SLC12A1_000047 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 241 - - - LOVD
+/. 2 - c.577G>A r.(?) p.(Gly193Arg) - pathogenic (recessive) g.48513142G>A g.48220945G>A - - SLC12A1_000037 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.629-118C>T r.(=) p.(=) - benign g.48518555C>T g.48226358C>T SLC12A1(NM_000338.3):c.629-118C>T - SLC12A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.629-6A>G r.spl p.? - pathogenic (recessive) g.48518667T>G g.48226470T>G - - SLC12A1_000038 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.708C>T r.(?) p.(Asn236=) - benign g.48518752C>T g.48226555C>T SLC12A1(NM_000338.3):c.708C>T (p.N236=) - SLC12A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.718C>T r.(?) p.(Arg240Cys) - VUS g.48518762C>T g.48226565C>T SLC12A1(NM_000338.2):c.718C>T (p.(Arg240Cys)) - SLC12A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 - c.799G>T r.(?) p.(Ala267Ser) - pathogenic (recessive) g.48521460G>T g.48229263G>T - - SLC12A1_000039 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.955G>A r.(?) p.(Gly319Arg) - pathogenic (recessive) g.48522680G>A g.48230483G>A - - SLC12A1_000040 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.976-14C>G r.? p.? - pathogenic (recessive) g.48524910C>G g.48232713C>G - - SLC12A1_000041 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1010C>T r.(?) p.(Ala337Val) - pathogenic (recessive) g.48524958C>T g.48232761C>T - - SLC12A1_000042 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1041_1045del r.(?) p.(Pro348GlnfsTer3) - pathogenic (recessive) g.48524989_48524993del g.48232792_48232796del - - SLC12A1_000043 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+?/. 1 9 c.1103A>G r.? p.(Glu368Gly) ACMG likely pathogenic (recessive) g.48527089A>G - - - SLC12A1_000031 - PubMed: Brochard 2009 - - Germline yes - - - - Rosa Vargas-Poussou
?/. 1 - c.1109T>C r.(?) p.(Phe370Ser) - VUS g.48527095T>C g.48234898T>C - - SLC12A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1118G>A r.(?) p.(Arg373His) - likely benign g.48527104G>A g.48234907G>A SLC12A1(NM_000338.3):c.1118G>A (p.R373H) - SLC12A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1215+1876T>A r.(=) p.(=) - benign g.48529077T>A g.48236880T>A SLC12A1(NM_000338.3):c.1215+1876T>A - SLC12A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1327G>A r.(?) p.(Gly443Arg) - pathogenic (recessive) g.48536976G>A g.48244779G>A - - SLC12A1_000044 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 11 c.1429T>A r.? p.(Tyr477Asn) ACMG pathogenic g.48537078T>A - - - SLC12A1_000034 - - - - Germline/De novo (untested) - - - - - Rosa Vargas-Poussou
-/. 1 - c.1453-115_1453-113dup r.(=) p.(=) - benign g.48538991_48538993dup g.48246794_48246796dup SLC12A1(NM_000338.3):c.1453-117_1453-115dupAAC - SLC12A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 12 c.1467_1474del r.(?) p.(Ser490Argfs*51) ACMG pathogenic g.48539120_48539127del - 1464_1471del - SLC12A1_000035 - - - - Germline/De novo (untested) yes - - - - Rosa Vargas-Poussou
?/. 1 - c.1493C>T r.(?) p.(Ala498Val) - VUS g.48539146C>T g.48246949C>T - - SLC12A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 12 c.1522G>A r.(?) p.(Ala508Thr) - pathogenic (recessive) g.48539175G>A - - - SLC12A1_000032 - PubMed: Brochard 2009 RCV:000992996.1, RCV:000779167.1, RCV:000200351.1 - Germline - - - - - Rosa Vargas-Poussou
?/. 1 - c.1583A>G r.(?) p.(Tyr528Cys) - VUS g.48539556A>G g.48247359A>G SLC12A1(NM_000338.2):c.1583A>G (p.(Tyr528Cys)) - SLC12A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.1614T>C r.(?) p.(Tyr538=) - benign g.48539587T>C g.48247390T>C SLC12A1(NM_000338.3):c.1614T>C (p.Y538=) - SLC12A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.1684+6T>G r.(=) p.(=) - VUS g.48539663T>G g.48247466T>G - - SLC12A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1685-237dup r.(=) p.(=) - benign g.48541535dup g.48249338dup SLC12A1(NM_000338.3):c.1685-237dupG - SLC12A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 15 c.1883C>A r.? p.(Ala628Asp) - likely pathogenic g.48543908C>A - - - SLC12A1_000033 - PubMed: Brochard 2009 ClinVar-RCV000420163.1 - Germline yes - - - - Rosa Vargas-Poussou
?/. 1 - c.2045C>T r.(?) p.(Pro682Leu) - VUS g.48551399C>T - - - SLC12A1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.2067G>A r.(?) p.(Gly689=) - likely benign g.48551421G>A g.48259224G>A SLC12A1(NM_000338.2):c.2067G>A (p.G689=), SLC12A1(NM_000338.3):c.2067G>A (p.G689=) - SLC12A1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.2095G>A r.(?) p.(Asp699Asn) - likely benign g.48551449G>A - SLC12A1(NM_000338.2):c.2095G>A (p.D699N) - SLC12A1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2117del r.(?) p.(Lys706ArgfsTer23) - pathogenic (recessive) g.48551471del g.48259274del 2117delA - SLC12A1_000045 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2255C>T r.(?) p.(Ala752Val) - likely benign g.48559858C>T g.48267661C>T SLC12A1(NM_000338.2):c.2255C>T (p.A752V) - SLC12A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2281C>T r.(?) p.(Arg761Ter) - pathogenic (recessive) g.48559884C>T g.48267687C>T - - SLC12A1_000046 - PubMed: Brochard 2009 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2630-7G>A r.(=) p.(=) - likely benign g.48580233G>A g.48288036G>A SLC12A1(NM_000338.2):c.2630-7G>A (p.(=)) - SLC12A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3 - c.2873T>C r.(?) p.(Val958Ala) - benign g.48580713T>C g.48288516T>C SLC12A1(NM_000338.3):c.2873T>C (p.V958A) - SLC12A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.2873+1G>A r.spl? p.? - pathogenic g.48580714G>A g.48288517G>A - - SLC12A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2943T>C r.(?) p.(Ile981=) - likely benign g.48584044T>C g.48291847T>C SLC12A1(NM_000338.2):c.2943T>C (p.I981=) - SLC12A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2952_2955del r.(?) p.(Asn984Lysfs*10) ACMG pathogenic g.48584053_48584056del g.48291856_48291859del - - SLC12A1_000001 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
?/. 1 - c.2961-8A>T r.(=) p.(=) - VUS g.48591329A>T g.48299132A>T SLC12A1(NM_000338.2):c.2961-8A>T (p.(=)) - SLC12A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 - c.3164+1G>A r.spl, r.spl? p.? - pathogenic, pathogenic (recessive) g.48593580G>A g.48301383G>A - - SLC12A1_000029 VKGL data sharing initiative Nederland PubMed: Brochard 2009 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 - c.3207G>T r.(?) p.(Leu1069Phe) - likely pathogenic g.48594989G>T g.48302792G>T SLC12A1(NM_000338.2):c.463G>A(p.G155S)/c.3207G>T(p.L1069F) - SLC12A1_000048 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 241 - - - LOVD
-/. 1 - c.*110G>T r.(=) p.(=) - benign g.48595192G>T g.48302995G>T - - SLC12A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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