Full data view for gene SLC12A2

Information The variants shown are described using the NM_001046.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-3591123_*18194962dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.89C>G r.(?) p.(Ala30Gly) Unknown - likely benign g.127419735C>G - SLC12A2(NM_001046.2):c.89C>G (p.(Ala30Gly)) - SLC12A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113C>T r.(?) p.(Ala38Val) Unknown - likely benign g.127419759C>T - SLC12A2(NM_001046.2):c.113C>T (p.(Ala38Val)) - SLC12A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.156C>G r.(?) p.(Asp52Glu) Unknown - VUS g.127419802C>G g.128084110C>G SLC12A2(NM_001046.2):c.156C>G (p.(Asp52Glu)) - SLC12A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198C>G r.(?) p.(Asp66Glu) Unknown - likely benign g.127419844C>G - - - SLC12A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235A>C r.(?) p.(Ser79Arg) Unknown - VUS g.127419881A>C g.128084189A>C SLC12A2(NM_001046.2):c.235A>C (p.(Ser79Arg)) - SLC12A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.297_308del r.(?) p.(Ala104_Ala107del) Unknown - VUS g.127419943_127419954del - SLC12A2(NM_001046.3):c.297_308delGGCGGCGGCGGC (p.A104_A107del) - SLC12A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.300_308del r.(?) p.(Ala105_Ala107del) Unknown - VUS g.127419946_127419954del - SLC12A2(NM_001046.3):c.300_308delGGCGGCGGC (p.A105_A107del) - SLC12A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.302C>T r.(?) p.(Ala101Val) Unknown - likely benign g.127419948C>T - SLC12A2(NM_001046.2):c.302C>T (p.(Ala101Val)) - SLC12A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.303_308dup r.(?) p.(Ala106_Ala107dup) Unknown - VUS g.127419949_127419954dup - SLC12A2(NM_001046.3):c.303_308dup (p.(Ala106_Ala107dup)) - SLC12A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.317C>A r.(?) p.(Ala106Glu) Unknown - VUS g.127419963C>A - SLC12A2(NM_001046.2):c.317C>A (p.(Ala106Glu)) - SLC12A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.691G>A r.(?) p.(Ala231Thr) Unknown - VUS g.127420337G>A - SLC12A2(NM_001046.3):c.691G>A (p.(Ala231Thr)) - SLC12A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899G>C r.(?) p.(Trp300Ser) Unknown - VUS g.127449926G>C - SLC12A2(NM_001046.2):c.899G>C (p.W300S) - SLC12A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1014T>C r.(?) p.(Thr338=) Unknown - likely benign g.127450339T>C g.128114647T>C SLC12A2(NM_001046.2):c.1014T>C (p.T338=) - SLC12A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.1021A>G r.(?) p.(Ile341Val) Unknown - VUS g.127450346A>G g.128114654A>G - - SLC12A2_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - DFNA78 - - - M - Pakistan - - - - - 1 Hina Khan
?/. - c.1076G>A r.(?) p.(Ser359Asn) Unknown ACMG VUS g.127466786G>A - - - SLC12A2_000010 ACMG PM2_SUP, PP3 - - - Germline ? - - - - DNA SEQ-NG-I blood - DELMNES 202459 - - M no Germany - - - - - 1 Andreas Laner
-?/. - c.1188+344_1188+345insG r.(=) p.(=) Unknown - likely benign g.127467242_127467243insG - SLC12A2(NM_001046.3):c.1188+344_1188+345insG - SLC12A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299+10G>A r.(=) p.(=) Unknown - likely benign g.127469977G>A - SLC12A2(NM_001046.3):c.1299+10G>A - SLC12A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1348G>A r.(?) p.(Val450Ile) Unknown - likely benign g.127471440G>A g.128135748G>A SLC12A2(NM_001046.2):c.1348G>A (p.V450I) - SLC12A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1787T>G r.(?) p.(Val596Gly) Unknown - VUS g.127483327T>G - SLC12A2(NM_001046.2):c.1787T>G (p.(Val596Gly)) - SLC12A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1798A>G r.(?) p.(Thr600Ala) Unknown - likely benign g.127483338A>G - SLC12A2(NM_001046.2):c.1798A>G (p.(Thr600Ala)) - SLC12A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2135A>G r.(?) p.(Asn712Ser) Unknown - VUS g.127486960A>G - SLC12A2(NM_001046.2):c.2135A>G (p.(Asn712Ser)) - SLC12A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2146T>C r.(?) p.(Ser716Pro) Unknown - VUS g.127486971T>C - - - SLC12A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2322A>C r.(?) p.(Ser774=) Unknown - likely benign g.127488456A>C - SLC12A2(NM_001046.2):c.2322A>C (p.S774=) - SLC12A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2475+1G>A r.spl? p.? Unknown - VUS g.127493857G>A - SLC12A2(NM_001046.3):c.2475+1G>A - SLC12A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2609T>A r.(?) p.(Leu870*) Unknown - pathogenic g.127497485T>A - - - SLC12A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2617-2A>G r.spl? p.? Unknown - VUS g.127503451A>G g.128167759A>G - - SLC12A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2617-2A>G r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.127503451A>G g.128167759A>G - - SLC12A2_000002 - PubMed: Anazi 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID 17DG0776 PubMed: Anazi 2017 family M - - - - - - - 1 Johan den Dunnen
-?/. - c.2894C>A r.(?) p.(Ser965Tyr) Unknown - likely benign g.127510323C>A - SLC12A2(NM_001046.2):c.2894C>A (p.(Ser965Tyr)) - SLC12A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2935G>A r.(?) p.(Glu979Lys) Maternal (confirmed) ACMG pathogenic (dominant) g.127512802G>A g.128177110G>A - - SLC12A2_000012 - PubMed: Wonkam 2022 - rs1581138934 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood WES DFNA78 Fam35 PubMed: Wonkam 2022 3-generation family, 6 affected (3M,3F) M no Ghana Africa - - - - 6 Yacouba Dia
+/. - c.2962C>T r.(?) p.(Pro988Ser) Parent #1 - pathogenic (dominant) g.127512829C>T g.128177137C>T - - SLC12A2_000015 - PubMed: Vanniya 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL DXNCHM46 PubMed: Vanniya 2022 2-generation family, 10 affected (2F, 8M) F;M - India - - - - - 10 Johan den Dunnen
?/. - c.3163A>G r.(?) p.(Arg1055Gly) Unknown - VUS g.127516637A>G - SLC12A2(NM_001046.2):c.3163A>G (p.(Arg1055Gly)) - SLC12A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3212+4A>C r.spl? p.? Unknown - VUS g.127516690A>C - SLC12A2(NM_001046.2):c.3212+4A>C - SLC12A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3300-3A>C r.spl? p.? Unknown - VUS g.127520055A>C - SLC12A2(NM_001046.2):c.3300-3A>C (p.?) - SLC12A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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