Full data view for gene SLC26A2

Information The variants shown are described using the NM_000112.3 transcript reference sequence.

108 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.-183G>C r.(?) p.(=) Unknown - likely benign g.149340385G>C g.149960822G>C SLC26A2(NM_000112.3):c.-183G>C - SLC26A2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1i c.-26+2T>C r.[0,=] p.[0,=] Unknown - pathogenic g.149340544T>C g.149960981T>C c.-26+2T>C: DTDSTFin; IVS1+2T>C - SLC26A2_000004 Finnish DTD Founder/Major mutation: ~80% of Finnish DTD patients (most hom). Also in ~18% of non-Finnish DTD patients. PubMed: Hästbacka et al. 1999, PubMed: Dwyer et al. 2010, PubMed: Mäkitie et al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.-26+2T>C r.spl? p.? Unknown - pathogenic g.149340544T>C g.149960981T>C SLC26A2(NM_000112.3):c.-26+2T>C - SLC26A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.47C>G r.(47c>g) p.(Ser16*) Unknown - pathogenic g.149357262C>G g.149977699C>G 74C>G: S16X - SLC26A2_000005 Rare Italian DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.55G>T r.(55g>u) p.(Gly19*) Unknown - pathogenic g.149357270G>T g.149977707G>T 82G>T: G19X - SLC26A2_000006 Rare British-Australian DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.229A>C r.(?) p.(Asn77His) Unknown - VUS g.149357444A>C g.149977881A>C - - SLC26A2_000002 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.229A>C r.(229a>c) p.(Asn77His) Unknown - likely pathogenic g.149357444A>C g.149977881A>C 256A>C: N77H - SLC26A2_000002 Rare French DTD mutation (mild DTD variant) PubMed: Rossi et al. 2001 - rs76784312 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.229A>C r.(?) p.(Asn77His) Unknown - likely benign g.149357444A>C g.149977881A>C SLC26A2(NM_000112.3):c.229A>C (p.(Asn77His)) - SLC26A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.255del r.(?) p.(Asn87Ilefs*2) Unknown - pathogenic g.149357470del g.149977907del 282delC: FS/stop - SLC26A2_000007 Rare French DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.294G>A r.(?) p.(Trp98Ter) Unknown - likely pathogenic g.149357509G>A g.149977946G>A - - SLC26A2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299C>G r.(?) p.(Pro100Arg) Unknown - VUS g.149357514C>G g.149977951C>G SLC26A2(NM_000112.3):c.299C>G (p.(Pro100Arg)) - SLC26A2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.331G>T r.(331g>u) p.(Asp111Tyr) Unknown - likely pathogenic g.149357546G>T g.149977983G>T 359G>T: D111Y - SLC26A2_000008 Rare German DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.344G>C r.(?) p.(Gly115Ala) Unknown - likely pathogenic g.149357559G>C g.149977996G>C 371G>C (Gly115Ala) - SLC26A2_000034 - - - - Unknown - - - 0 - DNA PCR Blood - AO-2 - - - M no - - - 0 - - 1 Cynthia Silveira
+/. - c.391del r.(?) p.(Leu131CysfsTer41) Unknown - pathogenic g.149357606del g.149978043del SLC26A2(NM_000112.3):c.391delC (p.L131Cfs*41) - SLC26A2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.403C>A r.(403c>a) p.(Gln135Lys) Unknown - likely pathogenic g.149357618C>A g.149978055C>A 430C>A: Q135R - SLC26A2_000009 Rare French DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.474T>C r.(?) p.(Arg158=) Unknown - likely benign g.149357689T>C g.149978126T>C SLC26A2(NM_000112.3):c.474T>C (p.R158=) - SLC26A2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.496G>A r.(496g>a) p.(Gly166Arg) Unknown - likely pathogenic g.149357711G>A g.149978148G>A 523G>A: G166R - SLC26A2_000010 Rare Spanish DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.532C>T r.(532c>u) p.(Arg178*) Unknown - pathogenic g.149357747C>T g.149978184C>T c559t: R178X - SLC26A2_000011 Several DTD patients of various ethnicity; Functional studies show dicreased sulfate transport activity PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Barbosa et al. 2011 - rs104893919 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.532C>T r.(?) p.(Arg178Ter) Unknown - pathogenic g.149357747C>T g.149978184C>T SLC26A2(NM_000112.3):c.532C>T (p.R178*) - SLC26A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.532C>T r.(?) p.(Arg178Ter) Unknown - pathogenic g.149357747C>T g.149978184C>T SLC26A2(NM_000112.3):c.532C>T (p.R178*) - SLC26A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.700-1G>C r.spl? p.? Unknown - likely pathogenic g.149359855G>C g.149980292G>C 3' splice acceptor site of the first intron after start codon: AG>AC; ag( IVS- 1 )ac; IVS2-1G>C; c.727-1G>C - SLC26A2_000012 1 American DTD patient (het) and 2 Portugese DTD patients (com-het) PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Barbosa et al. 2011 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.705_711del r.(?) p.(Met236Serfs*16) Unknown - pathogenic g.149359861_149359867del g.149980298_149980304del 731-737delGATGGGC: FS/stop - SLC26A2_000013 Rare Hispanic-American DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.764G>A r.(764g>a) p.(Gly255Glu) Unknown - pathogenic g.149359920G>A g.149980357G>A g791a (G255E) - SLC26A2_000014 Several DTD patients of various ethnicity; Functional studies show dicreased sulfate transport activity PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a - rs104893917 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.776G>T r.(?) p.(Gly259Val) Unknown - pathogenic g.149359932G>T g.149980369G>T SLC26A2(NM_000112.3):c.776G>T (p.G259V) - SLC26A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.782C>G r.(?) p.(Ser261Cys) Unknown - VUS g.149359938C>G g.149980375C>G SLC26A2(NM_000112.3):c.782C>G (p.(Ser261Cys)) - SLC26A2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.835C>T r.(835C>T) p.(Arg279Trp) Unknown - pathogenic g.149359991C>T g.149980428C>T 862C>T: R279W; c862t:R279W - SLC26A2_000015 Many Caucasian and Finnish DTD families: The second most common DTD mutation in Finland and most frequent mutation outside Finland; Functional studies show dicreased sulfate transport activity PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Hästbacka et al. 1999, PubMed: Dwyer et al. 2010, PubMed: Barbosa et al. 2011 - rs104893915 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.835C>T r.(?) p.(Arg279Trp) Unknown - pathogenic g.149359991C>T g.149980428C>T SLC26A2(NM_000112.3):c.835C>T (p.R279W) - SLC26A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.835C>T r.(?) p.(Arg279Trp) Unknown - pathogenic g.149359991C>T g.149980428C>T SLC26A2(NM_000112.3):c.835C>T (p.R279W) - SLC26A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.906_907del r.(?) p.(Cys303*) Unknown - pathogenic g.149360062_149360063del g.149980499_149980500del 933-934delCT: FS/stop - SLC26A2_000016 Rare French DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.931T>C r.(?) p.(Cys311Arg) Unknown - VUS g.149360087T>C g.149980524T>C SLC26A2(NM_000112.3):c.931T>C (p.C311R) - SLC26A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.987T>C r.(?) p.(Leu329=) Unknown - likely benign g.149360143T>C g.149980580T>C SLC26A2(NM_000112.3):c.987T>C (p.L329=) - SLC26A2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1020_1022del r.(?) p.(Val341del) Unknown - pathogenic g.149360176_149360178del g.149980613_149980615del ∆gtt (∆V340); 1045–1047delGTT: V340del - SLC26A2_000017 Several DTD patients of various ethnicity, also Finnish and Japanese; Functional studies show decreased sulfate transport activity PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Hästbacka et al. 1999, PubMed: Cai et al. 1998 - rs121908077 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1020_1022del r.(?) p.(Val341del) Unknown - pathogenic g.149360176_149360178del g.149980613_149980615del SLC26A2(NM_000112.3):c.1020_1022delTGT (p.V341del) - SLC26A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1081G>A r.(?) p.(Ala361Thr) Unknown - likely benign g.149360237G>A - SLC26A2(NM_000112.3):c.1081G>A (p.(Ala361Thr)) - SLC26A2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.1157C>T r.(1157c>u) p.(Ala386Val) Unknown - likely pathogenic g.149360313C>T g.149980750C>T 1184C>T: A386V - SLC26A2_000018 Lebanese DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1242_1245del r.(?) p.(Asn415Argfs*44) Unknown - pathogenic g.149360398_149360401del g.149980835_149980838del 1269-1272delAAAC: FS/stop - SLC26A2_000019 German DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1273A>G r.(1273a>g) p.(Asn425Asp) Unknown - pathogenic g.149360429A>G g.149980866A>G A1300G: N425D; Asn425Asp - SLC26A2_000020 1 Portugese DTD patient (com-het); Functional studies show dicreased sulfate transport activity PubMed: Superti-Furga_et al. 1996c, PubMed: Barbosa et al. 2011 - rs104893920 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1273A>G r.(?) p.(Asn425Asp) Unknown - pathogenic g.149360429A>G g.149980866A>G SLC26A2(NM_000112.3):c.1273A>G (p.N425D) - SLC26A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.1361A>C r.(1361a>c) p.(Gln454Pro) Both (homozygous) - likely pathogenic g.149360517A>C g.149980954A>C a1388c: Q454P - SLC26A2_000021 1 Lebanese DTD family PubMed: Megarbane et al. 1999 - rs104893921 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1394del r.(?) p.(Leu465Cysfs*5) Unknown - pathogenic g.149360550del g.149980987del 1421delT: FS/stop - SLC26A2_000022 Rare Belgian DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1435C>T r.(?) p.(Gln479Ter) Unknown - pathogenic g.149360591C>T g.149981028C>T SLC26A2(NM_000112.3):c.1435C>T (p.Q479*) - SLC26A2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) ACMG pathogenic g.149360604T>C g.149981041T>C - - SLC26A2_000035 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ACG-1B - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+?/+? 3 c.1451G>A r.(1451g>a) p.(Gly484Asp) Unknown - likely pathogenic g.149360607G>A g.149981044G>A 1478G>A: G484D - SLC26A2_000023 Rare Czech DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.1474C>T r.(?) p.(Arg492Trp) Unknown - VUS g.149360630C>T g.149981067C>T - - SLC26A2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.1474C>T r.(?) p.(Arg492Trp) Unknown - VUS g.149360630C>T g.149981067C>T - - SLC26A2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - Healthy/Control - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.1474C>T r.(?) p.(Arg492Trp) Unknown - VUS g.149360630C>T g.149981067C>T - - SLC26A2_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 3 c.1474C>T r.(1474c>u) p.(Arg492Trp) Unknown - likely pathogenic g.149360630C>T g.149981067C>T 1501C>T: R492W - SLC26A2_000003 DTD mutation, seen in several DTD patients PubMed: Rossi et al. 2001 - rs78676079 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1474C>T r.(?) p.(Arg492Trp) Unknown - benign g.149360630C>T g.149981067C>T SLC26A2(NM_000112.3):c.1474C>T (p.R492W) - SLC26A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1474C>T r.(?) p.(Arg492Trp) Unknown - benign g.149360630C>T g.149981067C>T SLC26A2(NM_000112.3):c.1474C>T (p.R492W) - SLC26A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1474C>T r.(?) p.(Arg492Trp) Parent #1 - likely benign g.149360630C>T g.149981067C>T - - SLC26A2_000003 44 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs78676079 Germline - 44/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 44 Mohammed Faruq
?/. - c.1512G>A r.(?) p.(Met504Ile) Parent #1 - VUS g.149360668G>A g.149981105G>A - - SLC26A2_000054 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs76668544 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1532A>T r.(?) p.(Asp511Val) Unknown - VUS g.149360688A>T g.149981125A>T SLC26A2(NM_000112.3):c.1532A>T (p.(Asp511Val)) - SLC26A2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1535C>A r.1535c>a p.Thr512Lys Unknown - pathogenic g.149360691C>A g.149981128C>A c.1535C.A change (p.T512K) - SLC26A2_000024 1 Finnish DTD family (hom); Cells expressing p.Thr512Lys mutant showed no sulfate uptake PubMed: Bonafe et al. 2008 - rs121908078 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1535C>A r.(?) p.(Thr512Lys) Unknown - pathogenic g.149360691C>A g.149981128C>A SLC26A2(NM_000112.3):c.1535C>A (p.T512K) - SLC26A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1650del r.(?) p.(Ser551Valfs*34) Unknown - pathogenic g.149360806del g.149981243del 1677delG: FS/stop - SLC26A2_000025 Rare British-Italian DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.1721T>C r.(1721u>c) p.(Ile574Thr) Unknown - VUS g.149360877T>C g.149981314T>C 1748C>T: T574I possibly rare polymorphism - SLC26A2_000026 German, Dutch polymorphism, possible association with DTD; Possibly rare polymorphism PubMed: Rossi et al. 2001 - rs30832 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1721T>C r.(?) p.(Ile574Thr) Unknown - benign g.149360877T>C g.149981314T>C SLC26A2(NM_000112.3):c.1721T>C (p.I574T) - SLC26A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1721T>C r.(?) p.(Ile574Thr) Unknown - benign g.149360877T>C g.149981314T>C SLC26A2(NM_000112.3):c.1721T>C (p.I574T) - SLC26A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1721T>C r.(?) p.(Ile574Thr) Unknown - benign g.149360877T>C g.149981314T>C SLC26A2(NM_000112.3):c.1721T>C (p.I574T) - SLC26A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1721T>C r.(?) p.(Ile574Thr) Unknown - benign g.149360877T>C g.149981314T>C SLC26A2(NM_000112.3):c.1721T>C (p.I574T) - SLC26A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1724del r.(?) p.(Lys575Serfs*10) Unknown - pathogenic g.149360880del g.149981317del ∆a1751 (FS) - SLC26A2_000027 Several DTD patients of various ethnicity PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1806_1809del r.(?) p.(Thr603SerfsTer5) Unknown - pathogenic g.149360962_149360965del g.149981399_149981402del SLC26A2(NM_000112.3):c.1806_1809delAACT (p.T603Sfs*5) - SLC26A2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1905del r.(?) p.(Met635Ilefs*15) Unknown - likely pathogenic g.149361061del g.149981498del 1905delG (Thr627Leufs*23) - SLC26A2_000033 variant description correct? - - - Unknown - - - 0 - DNA PCR Blood - AO-2 - - - M no - - - 0 - - 1 Cynthia Silveira
+?/+? 3 c.1957T>A r.(1957u>a) p.(Cys653Ser) Unknown - likely pathogenic g.149361113T>A g.149981550T>A 1984T>A: C653S - SLC26A2_000028 DTD mutation, observed in several DTD patients and also in one rMED DTD patient. PubMed: Rossi et al. 2001 - rs104893924 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1957T>A r.(?) p.(Cys653Ser) Unknown - pathogenic g.149361113T>A g.149981550T>A SLC26A2(NM_000112.3):c.1957T>A (p.C653S, p.(Cys653Ser)) - SLC26A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1957T>A r.(?) p.(Cys653Ser) Unknown - VUS g.149361113T>A g.149981550T>A SLC26A2(NM_000112.3):c.1957T>A (p.C653S, p.(Cys653Ser)) - SLC26A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1976del r.(?) p.(Leu659*) Unknown - pathogenic g.149361132del g.149981569del 2003delT: FS/stop - SLC26A2_000029 Rare DTD mutation PubMed: Rossi et al. 2001 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1983del r.(?) p.(Ala662Glnfs*6) Unknown - pathogenic g.149361139del g.149981576del ∆a2009 (FS); ∆a2010 (FS) - SLC26A2_000030 Rare DTD mutation PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.1994A>C r.(1994a>c) p.(His665Pro) Unknown - likely pathogenic g.149361150A>C g.149981587A>C 2021A>C: H665P - SLC26A2_000031 Rare Canadian-British DTD mutation PubMed: Rossi et al. 2001 - rs141798540 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1994A>C r.(?) p.(His665Pro) Unknown - VUS g.149361150A>C g.149981587A>C SLC26A2(NM_000112.3):c.1994A>C (p.H665P) - SLC26A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Both (homozygous) - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Both (homozygous) - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Both (homozygous) - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - ADPKD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Both (homozygous) - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Both (homozygous) - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Both (homozygous) - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.2065A>T r.(?) p.(Thr689Ser) Unknown - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
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