Full data view for gene SLC26A4


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000441.1 transcript reference sequence.

940 entries on 10 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     

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Population     

Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+/. _1_3i c.-1288_304+3801del r.0? p.0? Parent #1 - pathogenic (recessive) g.107300016_107307681del g.107659571_107667236del g.-1066C_6602Adel - SLC26A4_000285 - PubMed: Lin 2019, PubMed: Wu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 213-gene panel HL DE2123 PubMed: Lin 2019, PubMed: Wu 2019 3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents F;M - Taiwan - - - - - 5 Johan den Dunnen
?/. - c.-109G>A r.(?) p.(=) Unknown - VUS g.107301195G>A g.107660750G>A - - SLC26A4_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - NA g.107301201T>C g.107660756T>C - - SLC26A4_000197 in vitro promoter-reporter assay shows significantly decreased transcription of variant SLC26A4 construct PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000197 not in 200 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 Germline - 1/429 cases - - - DNA DHPLC, SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000197 not in 200 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 Germline - 1/429 cases - - - DNA DHPLC, SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000197 not in 200 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 Germline - 1/429 cases - - - DNA DHPLC, SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000197 not in 200 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 Germline - 1/429 cases - - - DNA DHPLC, SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000197 not in 200 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 Germline - 1/429 cases - - - DNA DHPLC, SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000197 not in 200 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 Germline - 1/429 cases - - - DNA DHPLC, SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000197 not in 200 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 Germline - 1/429 cases - - - DNA DHPLC, SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000197 not in 200 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 Germline - 1/429 cases - - - DNA DHPLC, SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.-103T>C r.(0?) p.(0?) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000197 not in 200 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - rs60284988 Germline - 1/429 cases - - - DNA DHPLC, SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.-103T>C r.(?) p.(=) Unknown - VUS g.107301201T>C g.107660756T>C SLC26A4(NM_000441.1):c.-103T>C - SLC26A4_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.-103T>C r.(?) p.(=) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000127 heterozygous; may affect transcription (Yang ,2007); Pathogenicity indeterminate PubMed: B.Choi 2009 - rs60284988 Germline - 0/146 controls - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Proband M - United States - - - - - 1 Anne-Françoise Roux
+/+ 1 c.-103T>C r.(?) p.(=) Unknown - pathogenic g.107301201T>C g.107660756T>C - - SLC26A4_000127 heterozygous; may affect transcription (Yang ,2007) PubMed: Baux, Vaché 2017 - rs60284988 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB S1536 PubMed: Baux 2017 Proband M - France - - - - - 1 Anne-Françoise Roux
?/. - c.-103T>C r.(?) p.(=) Unknown - VUS g.107301201T>C g.107660756T>C SLC26A4(NM_000441.1):c.-103T>C - SLC26A4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-66C>G r.(?) p.(=) Unknown - benign g.107301238C>G g.107660793C>G SLC26A4(NM_000441.1):c.-66C>G - SLC26A4_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1 c.-66C>G r.(=) p.(=) Unknown ACMG benign g.107301238C>G g.107660793C>G - - SLC26A4_000122 heterozygous; No pathogenicity PubMed: B.Choi 2009 - rs17154282 Germline - 0/146 controls - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Proband M - United States - - - - - 1 Anne-Françoise Roux
?/? 1 c.-60A>G r.(?) p.(=) Unknown ACMG VUS g.107301244A>G g.107660799A>G - - SLC26A4_000126 heterozygous; pathogenicity indeterminate, highly conserved among orthologs (B.Choi ,2009); Pathogenicity indeterminate PubMed: B.Choi 2009 - - Germline - 0/146 controls - - - DNA SEQ - - DFNB - PubMed: V.de Moraes 2013 Proband M - United States - - - - - 1 Anne-Françoise Roux
+?/. - c.-3-2A>G r.spl? p.? Parent #1 - likely pathogenic g.107302082A>G g.107661637A>G - - SLC26A4_000230 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397516411 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.107302088T>C g.107661643T>C SLC26A4(NM_000441.1):c.2T>C (p.M1?) - SLC26A4_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.107302088T>C g.107661643T>C SLC26A4(NM_000441.1):c.2T>C (p.M1?) - SLC26A4_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.107302088T>C g.107661643T>C Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression confirming its pathogenicity (B.Choi et al.,2009) - described as p.Met1Thr - SLC26A4_000049 heterozygous; Pathogenic PubMed: B.Choi 2009; USMA-missense variant in MSV3d - rs111033302 Germline - 0/192 controls - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 2 c.2T>C r.(?) p.Met1Thr Unknown - pathogenic g.107302088T>C g.107661643T>C Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression confirming its pathogenicity (B.Choi et al.,2009) - SLC26A4_000049 heterozygous; Mutation PubMed: Huang S 2011; USMA-missense variant in MSV3d - rs111033302 Germline - 0/400 controls - - - DNA SEQ - - DFNB - PubMed: Huang S 2011 Proband - - China - - - - - 1 Anne-Françoise Roux
+/+ 2 c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.107302088T>C g.107661643T>C Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression confirming its pathogenicity (B.Choi et al.,2009) - described as p.Met1Thr - SLC26A4_000049 heterozygous; Mutation PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033302 Germline - - - - - DNA SEQ - - DFNB - PubMed: M.Ladsous 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/. - c.2T>G r.(?) p.? Unknown - pathogenic g.107302088T>G - - - SLC26A4_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>G r,(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.107302088T>G g.107661643T>G (M1R) - SLC26A4_000281 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
-/. - c.15C>A r.(?) p.(Gly5=) Unknown - benign g.107302101C>A g.107661656C>A SLC26A4(NM_000441.2):c.15C>A (p.G5=) - SLC26A4_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17G>T r.(?) p.(Gly6Val) Unknown - likely benign g.107302103G>T - SLC26A4(NM_000441.2):c.17G>T (p.G6V) - SLC26A4_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28C>A r.(?) p.(Pro10Thr) Unknown - likely benign g.107302114C>A - SLC26A4(NM_000441.1):c.28C>A (p.P10T) - SLC26A4_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.42del r.(?) p.(Glu15SerfsTer51) Both (homozygous) ACMG pathogenic (recessive) g.107302128del g.107661683del 42delC - SLC26A4_000268 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4465 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>T r.(?) p.(Arg24Leu) Parent #1 - pathogenic (recessive) g.107302157G>T g.107661712G>T - - SLC26A4_000269 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4149B PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>T r.(?) p.(Arg24Leu) Both (homozygous) - pathogenic (recessive) g.107302157G>T g.107661712G>T - - SLC26A4_000269 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL HL005 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+?/? 2 c.84C>A r.(?) p.(Ser28Arg) Unknown ACMG VUS g.107302170C>A g.107661725C>A - - SLC26A4_000111 heterozygous; Mutation PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - - Germline - - - - - DNA SEQ - - PDS;TDH2B - PubMed: M.Ladsous 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 2 c.85G>C r.(85g>c) p.(Glu29Gln) Maternal (confirmed) - pathogenic g.107302171G>C g.107661726G>C G29Q - SLC26A4_000083 variant not in 500 control chromosomes; suggested digenic inheritance PubMed: Yang 2007, Journal: Yang 2007 - rs111033205 Germline yes - - - - DNA SEQ - - DFNB4 - PubMed: Yang 2007, Journal: Yang 2007 2-generation family, 1 affcted, unaffected heterozygous carrier parents and brother F - United States - - - - - 1 Johan den Dunnen
+/. - c.85G>C r.(?) p.(Glu29Gln) Unknown - pathogenic g.107302171G>C g.107661726G>C SLC26A4(NM_000441.1):c.85G>C (p.E29Q) - SLC26A4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.85G>C r.(?) p.(Glu29Gln) Unknown - pathogenic g.107302171G>C g.107661726G>C Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008) - SLC26A4_000083 heterozygous; Mutation PubMed: C.Campbell 2001; USMA-missense variant in MSV3d - rs111033205 Germline - - - - - DNA SEQ - - DFNB - PubMed: C.Campbell 2001 Relative - - United States - - - - - 1 Anne-Françoise Roux
+/+ 2 c.85G>C r.(?) p.(Glu29Gln) Unknown - pathogenic g.107302171G>C g.107661726G>C Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008) - SLC26A4_000083 heterozygous; Mutation PubMed: C.Campbell 2001; USMA-missense variant in MSV3d - rs111033205 Germline - - - - - DNA SEQ - - DFNB - PubMed: C.Campbell 2001 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 2 c.85G>C r.(?) p.(Glu29Gln) Unknown - pathogenic g.107302171G>C g.107661726G>C Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008) - SLC26A4_000083 heterozygous; Mutation PubMed: C.Campbell 2001; USMA-missense variant in MSV3d - rs111033205 Germline - - - - - DNA SEQ - - DFNB - PubMed: C.Campbell 2001 Relative - - United States - - - - - 1 Anne-Françoise Roux
+/+ 2 c.85G>C r.(?) p.(Glu29Gln) Parent #1 - pathogenic g.107302171G>C g.107661726G>C Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008) - SLC26A4_000083 heterozygous; Pathogenic PubMed: A.Pera 2008; USMA-missense variant in MSV3d - rs111033205 Germline - 1/428 controls - - - DNA SEQ - - DFNB - PubMed: A.Pera 2008 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 2 c.85G>C r.(?) p.(Glu29Gln) Unknown - pathogenic g.107302171G>C g.107661726G>C Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008) - SLC26A4_000083 heterozygous; Mutation PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033205 Germline - - - - - DNA SEQ - - DFNB - PubMed: M.Ladsous 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 2 c.85G>C r.(?) p.(Glu29Gln) Maternal (confirmed) - pathogenic g.107302171G>C g.107661726G>C Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008) - SLC26A4_000083 heterozygous; UV3 PubMed: Baux, Vaché 2017; USMA-missense variant in MSV3d - rs111033205 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB S1595 PubMed: Baux 2017 Proband M - France - - - - - 1 Anne-Françoise Roux
+/. - c.85G>C r.(?) p.(Glu29Gln) Unknown - pathogenic g.107302171G>C g.107661726G>C SLC26A4(NM_000441.1):c.85G>C (p.E29Q) - SLC26A4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.135G>T r.(?) p.(Thr45=) Unknown - likely benign g.107302221G>T g.107661776G>T SLC26A4(NM_000441.1):c.135G>T (p.T45=) - SLC26A4_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.142G>T r.(?) p.(Glu48Ter) Unknown - pathogenic g.107302228G>T g.107661783G>T SLC26A4(NM_000441.1):c.142G>T (p.E48*) - SLC26A4_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.154A>T r.(?) p.(Lys52Ter) Both (homozygous) ACMG pathogenic (recessive) g.107302240A>T g.107661795A>T - - SLC26A4_000270 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4549 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.164+1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.107302251G>C g.107661806G>C - - SLC26A4_000289 combination of alleles not reported PubMed: Wu 2019 - - Germline - 4/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 4 Johan den Dunnen
+/+ 2i c.164+2T>C r.spl? p.? Both (homozygous) - pathogenic (recessive) g.107302252T>C g.107661807T>C - - SLC26A4_000138 homozygous PubMed: Baux, Vaché 2017 - rs397516420 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB S1728 PubMed: Baux 2017 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 2i c.165-2A>G r.spl? p.? Unknown - pathogenic g.107303739A>G g.107663294A>G - - SLC26A4_000066 heterozygous; Mutation PubMed: López-Bigas N 2002 - - Germline - - - - - DNA SEQ - - PDS;TDH2B - PubMed: López-Bigas N 2002 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/. - c.170C>A r.(?) p.(Ser57Ter) Both (homozygous) - pathogenic (recessive) g.107303746C>A g.107663301C>A - - SLC26A4_000271 - PubMed: Park 2003, PubMed: Naz 2017 - rs111033200 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLRB10 PubMed: Park 2003, PubMed: Naz 2017 family, 3 affected - - Pakistan Punjab - - - - 3 Johan den Dunnen
-?/. - c.187G>A r.(?) p.(Gly63Ser) Unknown - likely benign g.107303763G>A g.107663318G>A SLC26A4(NM_000441.1):c.187G>A (p.G63S) - SLC26A4_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200C>G r.(?) p.(Thr67Ser) Unknown - VUS g.107303776C>G g.107663331C>G - - SLC26A4_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.203T>C r.(?) p.(Leu68Pro) Unknown - likely pathogenic g.107303779T>C - - - SLC26A4_000258 - - - rs749712560 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209C>T r.(?) p.(Pro70Leu) Unknown - VUS g.107303785C>T - - - SLC26A4_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.218del r.(?) p.(Glu73Glyfs*24) Unknown - pathogenic g.107303794del g.107663349del - - SLC26A4_000056 heterozygous; Mutation PubMed: Huang S 2011 - - Germline - 0/400 controls - - - DNA SEQ - - DFNB - PubMed: Huang S 2011 Proband - - China - - - - - 1 Anne-Françoise Roux
+/. - c.230A>T r,(?) p.(Lys77Ile) Parent #1 - pathogenic (recessive) g.107303806A>T g.107663361A>T - - SLC26A4_000290 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.235C>T r,(?) p.(Arg79Ter) Parent #1 - pathogenic (recessive) g.107303811C>T g.107663366C>T - - SLC26A4_000291 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.241A>G r,(?) p.(Lys81Glu) Parent #1 - pathogenic (recessive) g.107303817A>G g.107663372A>G - - SLC26A4_000287 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
+?/. - c.241A>G r.(?) p.(Lys81Glu) Parent #1 ACMG likely pathogenic (recessive) g.107303817A>G g.107663372A>G - - SLC26A4_000287 ACMG PM2, PM3, PP3, PP4 PubMed: Lin 2019 - - Germline - - - - - DNA SEQ-NG - SLC26A4, FOXI1, KCNJ10 HL DE1021 PubMed: Lin 2019 - - - Taiwan - - - - - 1 Johan den Dunnen
-/- 3 c.262G>A r.(?) p.(Val88Ile) Parent #2 - benign g.107303838G>A g.107663393G>A - - SLC26A4_000129 heterozygous; in cis with c.1226G>A (p.Arg409His). No significant functional impairement (A.Pera ,2008).; Non-pathogenic polymorphism PubMed: A.Pera 2008; USMA-missense variant in MSV3d - - Germline - 1/428 controls - - - DNA SEQ - - DFNB - PubMed: A.Pera 2008 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 3 c.279del r.(?) p.(Ser93Argfs*4) Unknown - pathogenic g.107303855del g.107663410del - - SLC26A4_000077 heterozygous; Pathogenic PubMed: V.de Moraes 2013 - - Germline - 0/60 controls - - - DNA SEQ - - DFNB - PubMed: V.de Moraes 2013 Proband F - Brazil - - - - - 1 Anne-Françoise Roux
+?/+? 3 c.281C>T r.(?) p.(Thr94Ile) Unknown ACMG VUS g.107303857C>T g.107663412C>T - - SLC26A4_000041 heterozygous; Mutation PubMed: Huang S 2011; USMA-missense variant in MSV3d - - Germline - 0/400 controls - - - DNA SEQ - - DFNB - PubMed: Huang S 2011 Proband - - China - - - - - 1 Anne-Françoise Roux
+/. - c.304G>A r.(?) p.(Gly102Arg) Unknown - pathogenic g.107303880G>A - - - SLC26A4_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.304G>C r.(?) p.(Gly102Arg) Unknown - likely pathogenic g.107303880G>C - - - SLC26A4_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i_6i c.304+292_765+2672del r.? p.(Gly102Aspfs*4) Unknown - pathogenic g.107304172_107318226del g.107663727_107677781del Pathogenic, intragenic deletion of 14052kb - SLC26A4_000134 heterozygous; Pathogenic PubMed: A.Pera 2008 - - Germline - 0/428 controls - - - DNA PCRq, SEQ - - PDS;TDH2B - PubMed: A.Pera 2008 Proband F - Spain - - - - - 1 Anne-Françoise Roux
+/+ 3i_6i c.304+292_765+2672del r.? p.(Gly102Aspfs*4) Unknown - pathogenic g.107304172_107318226del g.107663727_107677781del Pathogenic, intragenic deletion of 14052kb - SLC26A4_000134 heterozygous; Pathogenic PubMed: A.Pera 2008 - - Germline - 0/428 controls - - - DNA PCRq, SEQ - - DFNB - PubMed: A.Pera 2008 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+?/? 4 c.317C>A r.(?) p.(Ala106Asp) Unknown ACMG VUS g.107312595C>A g.107672150C>A - - SLC26A4_000084 heterozygous; Mutation PubMed: C.Campbell 2001; USMA-missense variant in MSV3d - - Germline - - - - - DNA SEQ - - DFNB - PubMed: C.Campbell 2001 Proband - - United States - - - - - 1 Anne-Françoise Roux
+?/? 4 c.317C>A r.(?) p.(Ala106Asp) Unknown ACMG VUS g.107312595C>A g.107672150C>A - - SLC26A4_000084 heterozygous; Mutation PubMed: C.Campbell 2001; USMA-missense variant in MSV3d - - Germline - - - - - DNA SEQ - - DFNB - PubMed: C.Campbell 2001 Relative, dizygotic twin with (US02833000012) - - United States - - - - - 1 Anne-Françoise Roux
+?/. - c.317C>T r.(?) p.(Ala106Val) Both (homozygous) ACMG likely pathogenic (recessive) g.107312595C>T g.107672150C>T - - SLC26A4_000272 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4511 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 4 c.322del r.(?) p.(Leu108*) Unknown - pathogenic g.107312600del g.107672155del - - SLC26A4_000099 heterozygous; Likely pathogenic mutation PubMed: K.Tsukamoto 2003 - - Germline - 0/192 controls - - - DNA SEQ - - DFNB - PubMed: K.Tsukamoto 2003 Proband - - Japan - - - - - 1 Anne-Françoise Roux
+/+ 4 c.322del r.(?) p.(Leu108*) Unknown - pathogenic g.107312600del g.107672155del - - SLC26A4_000099 heterozygous; Pathogenic PubMed: S.Iwasaki 2006 - - Germline - - - - - DNA SEQ - - DFNB - PubMed: S.Iwasaki 2006 Proband M - Japan - - - - - 1 Anne-Françoise Roux
?/. - c.334C>T r.(?) p.(Pro112Ser) Unknown - VUS g.107312612C>T - - - SLC26A4_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347G>A r.(?) p.(Gly116Asp) Unknown - VUS g.107312625G>A g.107672180G>A SLC26A4(NM_000441.1):c.347G>A (p.G116D) - SLC26A4_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347G>A r.(?) p.(Gly116Asp) Unknown - VUS g.107312625G>A - SLC26A4(NM_000441.1):c.347G>A (p.G116D) - SLC26A4_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.349C>T r.(?) p.(Leu117Phe) Paternal (confirmed) - pathogenic g.107312627C>T g.107672182C>T - - SLC26A4_000192 found in 1/50 controls (Ashkenazi); not found among ~4000 non-Ashkenazi Jews - - - Germline yes 5/316 cases (hom), 1/316 cases (het) - - - DNA SEQ-NG-I blood - DFNB;ARNSHL - Karen Avraham Laboratory DFNB4 - no Israel Jewish-Ashkenazi;Egypt;Turkey - - - - 1 Zippi Brownstein
+/. 4 c.349C>T r.(?) p.(Leu117Phe) Both (homozygous) - pathogenic g.107312627C>T g.107672182C>T - - SLC26A4_000192 found in 1/50 controls (Ashkenazi); not in ~4000 non-Ashkenazi Jews - - - Germline yes 5/316 cases (hom), 1/316 cases (het) - - - DNA SEQ-NG-I blood - DFNB;ARNSHL - Karen Avraham Laboratory DFNB4 - yes Israel Jewish-Ashkenazi - - - - 2 Zippi Brownstein
+/. 4 c.349C>T r.(?) p.(Leu117Phe) Both (homozygous) - pathogenic g.107312627C>T g.107672182C>T - - SLC26A4_000192 found in 1/50 controls (Ashkenazi); not in ~4000 non-Ashkenazi Jews - - - Germline yes 5/316 cases (hom), 1/316 cases (het) - - - DNA SEQ-NG-I blood - DFNB;ARNSHL - Karen Avraham Laboratory DFNB4 - yes Israel Jewish-Ashkenazi - - - - 3 Zippi Brownstein
+?/? 4 c.367C>T r.(?) p.(Pro123Ser) Unknown ACMG VUS g.107312645C>T g.107672200C>T - - SLC26A4_000095 heterozygous; Likely pathogenic mutation PubMed: K.Tsukamoto 2003; USMA-missense variant in MSV3d - - Germline - 0/192 controls - - - DNA SEQ - - DFNB - PubMed: K.Tsukamoto 2003 Proband - - Japan - - - - - 1 Anne-Françoise Roux
+/. - c.370_382del r.(?) p.(Ile124Leufs*17) Unknown - pathogenic g.107312648_107312660del - - - SLC26A4_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.387del r,(?) p.(Phe130LeufsTer15) Parent #1 - pathogenic (recessive) g.107312665del g.107672220del 387delC - SLC26A4_000292 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
+?/? 4 c.395C>T r.(?) p.(Thr132Ile) Unknown ACMG VUS g.107312673C>T g.107672228C>T - - SLC26A4_000065 heterozygous; Mutation PubMed: López-Bigas N 2002; USMA-missense variant in MSV3d - - Germline - - - - - DNA SEQ - - PDS;TDH2B - PubMed: López-Bigas N 2002 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 4 c.398C>A r.(?) p.(Ser133*) Unknown - pathogenic g.107312676C>A g.107672231C>A - - SLC26A4_000119 heterozygous; Mutation PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - - Germline - - - - - DNA SEQ - - DFNB - PubMed: M.Ladsous 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
?/. - c.404A>G r.(?) p.(His135Arg) Unknown - VUS g.107312682A>G g.107672237A>G - - SLC26A4_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.407_411del r.(?) p.(Ile136Serfs*44) Unknown - pathogenic g.107312685_107312689del g.107672240_107672244del 406del5 (FS135/X179) - SLC26A4_000070 heterozygous; Pathogenic PubMed: López-Bigas N 2002 - - Germline - - - - - DNA SEQ - - PDS;TDH2B - PubMed: López-Bigas N 2002 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/. - c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000072 heterozygous; Mutation PubMed: C.Campbell 2001; USMA-missense variant in MSV3d - rs111033313 Germline - - - - - DNA SEQ - - DFNB - PubMed: C.Campbell 2001 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000072 heterozygous; Mutation PubMed: A.Pera 2008; USMA-missense variant in MSV3d - rs111033313 Germline - 0/428 controls - - - DNA SEQ - - DFNB - PubMed: A.Pera 2008 Proband M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000072 heterozygous; Mutation PubMed: A.Pera 2008; USMA-missense variant in MSV3d - rs111033313 Germline - 0/428 controls - - - DNA SEQ - - DFNB - PubMed: A.Pera 2008 Relative M - Spain - - - - - 1 Anne-Françoise Roux
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T Pathogenic, functional studies showed no activity of mutant pendrin (Taylor JP et al;2002) - SLC26A4_000072 heterozygous; Pathogenic PubMed: B.Choi 2009; USMA-missense variant in MSV3d - rs111033313 Germline - - - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Proband M - United States - - - - - 1 Anne-Françoise Roux
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000072 heterozygous; loss of function mutation (Taylor ,2002); Pathogenic PubMed: B.Choi 2009; USMA-missense variant in MSV3d - rs111033313 Germline - - - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000072 heterozygous; Mutation PubMed: V.de Moraes 2013; USMA-missense variant in MSV3d - rs111033313 Germline - - - - - DNA SEQ - - DFNB - PubMed: V.de Moraes 2013 Relative - - United States - - - - - 1 Anne-Françoise Roux
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000072 heterozygous; Pathogenic PubMed: V.de Moraes 2013; USMA-missense variant in MSV3d - rs111033313 Germline - 0/60 controls - - - DNA SEQ - - DFNB - PubMed: V.de Moraes 2013 Proband F - Brazil - - - - - 1 Anne-Françoise Roux
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000072 heterozygous; Pathogenic PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033313 Germline - 0/200 controls - - - DNA SEQ - - PDS;TDH2B - PubMed: M.Ladsous 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000072 heterozygous; Pathogenic PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033313 Germline - 0/200 controls - - - DNA SEQ - - PDS;TDH2B - PubMed: M.Ladsous 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 4 c.412G>T r.(?) p.(Val138Phe) Unknown - pathogenic g.107312690G>T g.107672245G>T - - SLC26A4_000072 heterozygous; Pathogenic PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033313 Germline - 0/200 controls - - - DNA SEQ - - PDS;TDH2B - PubMed: M.Ladsous 2014 Relative M - France - - - - - 1 Anne-Françoise Roux
+?/. 4 c.412G>T r.(?) p.(Val138Phe) Maternal (confirmed) ACMG pathogenic (recessive) g.107312690G>T - - - SLC26A4_000072 compound heterozygous PubMed: Batissoco 2021 ClinVar-SCV001792213, ClinVar-4835 rs111033199 Germline yes - - - - DNA SEQ Blood - HL - Karina Lezirovitz Lab - F no Brazil Brazilian admixed >09y - - - 1 Karina Lezirovitz Mandelbaum
+?/. - c.412G>T r.(?) p.(Val138Phe) Maternal (confirmed) ACMG pathogenic (recessive) g.107312690G>T - - - SLC26A4_000072 - PubMed: Batissoco 2021 - - Germline yes - - - - DNA SEQ - - HL S1 PubMed: Batissoco 2021 - F - Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
+?/. - c.412G>T r.(?) p.(Val138Phe) Unknown - likely pathogenic g.107312690G>T - - - SLC26A4_000072 - - - rs111033199 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.413T>A r.(?) p.(Val138Asp) Both (homozygous) - pathogenic (recessive) g.107312691T>A g.107672246T>A - - SLC26A4_000273 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4014A PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 4 c.414del r.(?) p.(Gly139Aspfs*6) Unknown - pathogenic g.107312692del g.107672247del - - SLC26A4_000052 heterozygous; Mutation PubMed: Huang S 2011 - - Germline - 0/400 controls - - - DNA SEQ - - DFNB - PubMed: Huang S 2011 Proband - - China - - - - - 1 Anne-Françoise Roux
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