All variants in the SLC26A5 gene

Information The variants shown are described using the NM_198999.2 transcript reference sequence.

134 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
-/. - c.-69592_-69590del r.(?) p.(=) - benign g.103155953_103155955del g.103515506_103515508del RELN(NM_173054.2):c.7863-66_7863-64delCTT - RELN_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-69592_-69590dup r.(?) p.(=) - benign g.103155953_103155955dup g.103515506_103515508dup RELN(NM_173054.2):c.7863-66_7863-64dupCTT - RELN_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-69502T>C r.(?) p.(=) - benign g.103155864A>G g.103515417A>G RELN(NM_005045.4):c.7887T>C (p.P2629=), RELN(NM_173054.2):c.7887T>C (p.P2629=) - RELN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-69502T>C r.(?) p.(=) - benign g.103155864A>G g.103515417A>G RELN(NM_005045.4):c.7887T>C (p.P2629=), RELN(NM_173054.2):c.7887T>C (p.P2629=) - RELN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-69502T>C r.(?) p.(=) - benign g.103155864A>G g.103515417A>G RELN(NM_005045.4):c.7887T>C (p.P2629=), RELN(NM_173054.2):c.7887T>C (p.P2629=) - RELN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-69501G>A r.(?) p.(=) - VUS g.103155863C>T - RELN(NM_005045.4):c.7888G>A (p.(Asp2630Asn)) - RELN_000358 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-69384G>A r.(?) p.(=) - VUS g.103155746C>T g.103515299C>T RELN(NM_173054.2):c.8005G>A (p.V2669I) - RELN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-69343T>C r.(?) p.(=) - benign g.103155705A>G g.103515258A>G RELN(NM_005045.4):c.8046T>C (p.H2682=) - RELN_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-69343T>C r.(?) p.(=) - benign g.103155705A>G g.103515258A>G RELN(NM_005045.4):c.8046T>C (p.H2682=) - RELN_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-69303G>A r.(?) p.(=) - benign g.103155665C>T g.103515218C>T RELN(NM_005045.4):c.8086G>A (p.A2696T) - RELN_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-69267A>G r.(?) p.(=) - VUS g.103155629T>C - RELN(NM_005045.3):c.8119+3A>G - RELN_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-65111A>C r.(?) p.(=) - benign g.103151473T>G g.103511026T>G RELN(NM_173054.2):c.8120-21A>C - RELN_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-65074A>G r.(?) p.(=) - benign g.103151436T>C g.103510989T>C RELN(NM_005045.4):c.8136A>G (p.L2712=), RELN(NM_173054.2):c.8136A>G (p.L2712=) - RELN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-65074A>G r.(?) p.(=) - benign g.103151436T>C g.103510989T>C RELN(NM_005045.4):c.8136A>G (p.L2712=), RELN(NM_173054.2):c.8136A>G (p.L2712=) - RELN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-65074A>G r.(?) p.(=) - benign g.103151436T>C g.103510989T>C RELN(NM_005045.4):c.8136A>G (p.L2712=), RELN(NM_173054.2):c.8136A>G (p.L2712=) - RELN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-65036C>T r.(?) p.(=) - VUS g.103151398G>A g.103510951G>A RELN(NM_005045.4):c.8174C>T (p.S2725F), RELN(NM_173054.2):c.8174C>T (p.S2725F) - RELN_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-65036C>T r.(?) p.(=) - VUS g.103151398G>A g.103510951G>A RELN(NM_005045.4):c.8174C>T (p.S2725F), RELN(NM_173054.2):c.8174C>T (p.S2725F) - RELN_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-64972C>A r.(?) p.(=) - VUS g.103151334G>T - RELN(NM_005045.4):c.8238C>A (p.D2746E) - RELN_000337 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-57244C>T r.(?) p.(=) - likely benign g.103143606G>A - RELN(NM_005045.3):c.8346C>T (p.F2782=) - RELN_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-54989C>T r.(?) p.(=) - benign g.103141351G>A g.103500904G>A RELN(NM_005045.4):c.8508C>T (p.F2836=), RELN(NM_173054.2):c.8508C>T (p.F2836=) - RELN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-54989C>T r.(?) p.(=) - benign g.103141351G>A g.103500904G>A RELN(NM_005045.4):c.8508C>T (p.F2836=), RELN(NM_173054.2):c.8508C>T (p.F2836=) - RELN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-54936C>G r.(?) p.(=) - VUS g.103141298G>C g.103500851G>C RELN(NM_173054.2):c.8561C>G (p.P2854R) - RELN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-54863A>G r.(?) p.(=) - likely benign g.103141225T>C g.103500778T>C RELN(NM_005045.3):c.8634A>G (p.S2878=) - RELN_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-52369_-52366del r.(?) p.(=) - benign g.103138731_103138734del g.103498284_103498287del RELN(NM_173054.2):c.8668-32_8668-29delTTTT - RELN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-52321G>A r.(?) p.(=) - VUS g.103138683C>T g.103498236C>T RELN(NM_173054.2):c.8684G>A (p.R2895H) - RELN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-52235G>C r.(?) p.(=) - VUS g.103138597C>G - RELN(NM_005045.4):c.8770G>C (p.D2924H) - RELN_000390 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-52207C>T r.(?) p.(=) - VUS g.103138569G>A - RELN(NM_005045.3):c.8798C>T (p.T2933I), RELN(NM_005045.4):c.8798C>T (p.T2933I) - RELN_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-52207C>T r.(?) p.(=) - VUS g.103138569G>A - RELN(NM_005045.3):c.8798C>T (p.T2933I), RELN(NM_005045.4):c.8798C>T (p.T2933I) - RELN_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-52194G>A r.(?) p.(=) - likely benign g.103138556C>T g.103498109C>T RELN(NM_173054.2):c.8811G>A (p.A2937=) - RELN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-52159A>C r.(?) p.(=) - VUS g.103138521T>G g.103498074T>G RELN(NM_005045.3):c.8843+3A>C (p.?), RELN(NM_005045.4):c.8843+3A>C, RELN(NM_173054.2):c.8843+3A>C - RELN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-52159A>C r.(?) p.(=) - VUS g.103138521T>G g.103498074T>G RELN(NM_005045.3):c.8843+3A>C (p.?), RELN(NM_005045.4):c.8843+3A>C, RELN(NM_173054.2):c.8843+3A>C - RELN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-52159A>C r.(?) p.(=) - likely benign g.103138521T>G g.103498074T>G RELN(NM_005045.3):c.8843+3A>C (p.?), RELN(NM_005045.4):c.8843+3A>C, RELN(NM_173054.2):c.8843+3A>C - RELN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-52155G>C r.(?) p.(=) - benign g.103138517C>G g.103498070C>G RELN(NM_005045.4):c.8843+7G>C, SLC26A5-AS1(NR_110141.1):n.1366-6334C>G - RELN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-52155G>C r.(?) p.(=) - benign g.103138517C>G g.103498070C>G RELN(NM_005045.4):c.8843+7G>C, SLC26A5-AS1(NR_110141.1):n.1366-6334C>G - RELN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-51911G>A r.(?) p.(=) - benign g.103138273C>T g.103497826C>T RELN(NM_005045.4):c.8944G>A (p.D2982N) - RELN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-51889G>A r.(?) p.(=) - benign g.103138251C>T g.103497804C>T RELN(NM_005045.4):c.8950+16G>A, RELN(NM_173054.2):c.8950+16G>A - RELN_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-51889G>A r.(?) p.(=) - benign g.103138251C>T g.103497804C>T RELN(NM_005045.4):c.8950+16G>A, RELN(NM_173054.2):c.8950+16G>A - RELN_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-51889G>A r.(?) p.(=) - benign g.103138251C>T g.103497804C>T RELN(NM_005045.4):c.8950+16G>A, RELN(NM_173054.2):c.8950+16G>A - RELN_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-50824G>T r.(?) p.(=) - VUS g.103137186C>A - RELN(NM_005045.4):c.8980G>T (p.D2994Y) - RELN_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-50718A>G r.(?) p.(=) - likely benign g.103137080T>C g.103496633T>C RELN(NM_005045.3):c.9086A>G (p.N3029S) - RELN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-50695G>C r.(?) p.(=) - likely benign g.103137057C>G - RELN(NM_005045.3):c.9109G>C (p.(Glu3037Gln)) - RELN_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-50026_-49990del r.(?) p.(=) - likely benign g.103136390_103136426del - RELN(NM_005045.4):c.9194-43_9194-7del - RELN_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-50026_-49990dup r.(?) p.(=) - likely benign g.103136390_103136426dup g.103495943_103495979dup RELN(NM_005045.4):c.9194-43_9194-7dup - RELN_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-49993T>A r.(?) p.(=) - VUS g.103136355A>T g.103495908A>T RELN(NM_005045.3):c.9194-10T>A - RELN_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-49971A>G r.(?) p.(=) - VUS g.103136333T>C - RELN(NM_005045.4):c.9206A>G (p.H3069R) - RELN_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-49879_-49877del r.(?) p.(=) - likely benign g.103136242_103136244del - RELN(NM_005045.4):c.9298_9300delAAG (p.K3100del) - RELN_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-49848G>A r.(?) p.(=) - VUS g.103136210C>T - RELN(NM_005045.4):c.9329G>A (p.(Arg3110Gln)) - RELN_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-46124_-46119del r.(?) p.(=) - benign g.103132486_103132491del g.103492039_103492044del RELN(NM_005045.4):c.9370-13_9370-8delATGTTT - RELN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-46034T>C r.(?) p.(=) - likely benign g.103132396A>G - RELN(NM_005045.4):c.9443+4T>C - RELN_000357 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-44895G>A r.(?) p.(=) - VUS g.103131257C>T - RELN(NM_005045.4):c.9463G>A (p.V3155I) - RELN_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-44849C>A r.(?) p.(=) - VUS g.103131211G>T g.103490764G>T RELN(NM_173054.2):c.9509C>A (p.S3170Y) - RELN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-44834A>C r.(?) p.(=) - benign g.103131196T>G g.103490749T>G RELN(NM_005045.3):c.9524A>C (p.H3175P), RELN(NM_005045.4):c.9524A>C (p.H3175P) - RELN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-44834A>C r.(?) p.(=) - benign g.103131196T>G g.103490749T>G RELN(NM_005045.3):c.9524A>C (p.H3175P), RELN(NM_005045.4):c.9524A>C (p.H3175P) - RELN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-44734T>C r.(?) p.(=) - likely benign g.103131096A>G - RELN(NM_005045.4):c.9605+19T>C - RELN_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-43902G>A r.(?) p.(=) - VUS g.103130264C>T - RELN(NM_005045.3):c.9688G>A (p.A3230T) - RELN_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-43887T>G r.(?) p.(=) - VUS g.103130249A>C - RELN(NM_005045.3):c.9703T>G (p.C3235G) - RELN_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-43882C>T r.(?) p.(=) - likely benign g.103130244G>A - RELN(NM_005045.4):c.9708C>T (p.S3236=) - RELN_000364 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-43876C>T r.(?) p.(=) - benign g.103130238G>A g.103489791G>A RELN(NM_005045.4):c.9714C>T (p.H3238=), RELN(NM_173054.2):c.9714C>T (p.H3238=) - RELN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-43876C>T r.(?) p.(=) - likely benign g.103130238G>A g.103489791G>A RELN(NM_005045.4):c.9714C>T (p.H3238=), RELN(NM_173054.2):c.9714C>T (p.H3238=) - RELN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-43860G>A r.(?) p.(=) - benign g.103130222C>T g.103489775C>T RELN(NM_005045.4):c.9730G>A (p.G3244S, p.(Gly3244Ser)), RELN(NM_173054.2):c.9730G>A (p.G3244S) - RELN_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-43860G>A r.(?) p.(=) - VUS g.103130222C>T g.103489775C>T RELN(NM_005045.4):c.9730G>A (p.G3244S, p.(Gly3244Ser)), RELN(NM_173054.2):c.9730G>A (p.G3244S) - RELN_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-43860G>A r.(?) p.(=) - benign g.103130222C>T g.103489775C>T RELN(NM_005045.4):c.9730G>A (p.G3244S, p.(Gly3244Ser)), RELN(NM_173054.2):c.9730G>A (p.G3244S) - RELN_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-43848_-43843del r.(?) p.(=) - VUS g.103130212_103130217del g.103489765_103489770del - - RELN_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-43839G>A r.(?) p.(=) - VUS g.103130201C>T g.103489754C>T RELN(NM_173054.2):c.9751G>A (p.E3251K) - RELN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-40504T>C r.(?) p.(=) - likely benign g.103126866A>G g.103486419A>G RELN(NM_005045.4):c.9764-3T>C - RELN_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-40475G>A r.(?) p.(=) - VUS g.103126837C>T g.103486390C>T RELN(NM_005045.3):c.9790G>A (p.(Asp3264Asn)) - RELN_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-40469C>T r.(?) p.(=) - VUS g.103126831G>A - RELN(NM_005045.4):c.9796C>T (p.(Pro3266Ser)) - RELN_000389 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-40410C>T r.(?) p.(=) - benign g.103126772G>A g.103486325G>A RELN(NM_005045.4):c.9855C>T (p.T3285=) - RELN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-40362C>T r.(?) p.(=) - benign g.103126724G>A g.103486277G>A RELN(NM_005045.4):c.9903C>T (p.Y3301=), RELN(NM_173054.2):c.9903C>T (p.Y3301=) - RELN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-40362C>T r.(?) p.(=) - likely benign g.103126724G>A g.103486277G>A RELN(NM_005045.4):c.9903C>T (p.Y3301=), RELN(NM_173054.2):c.9903C>T (p.Y3301=) - RELN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-40332C>T r.(?) p.(=) - likely benign g.103126694G>A g.103486247G>A RELN(NM_005045.3):c.9933C>T (p.G3311=), RELN(NM_005045.4):c.9933C>T (p.G3311=) - RELN_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-40332C>T r.(?) p.(=) - likely benign g.103126694G>A - RELN(NM_005045.3):c.9933C>T (p.G3311=), RELN(NM_005045.4):c.9933C>T (p.G3311=) - RELN_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-37845A>G r.(?) p.(=) - benign g.103124207T>C g.103483760T>C RELN(NM_005045.4):c.10074A>G (p.A3358=), RELN(NM_173054.2):c.10074A>G (p.A3358=) - RELN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-37845A>G r.(?) p.(=) - benign g.103124207T>C g.103483760T>C RELN(NM_005045.4):c.10074A>G (p.A3358=), RELN(NM_173054.2):c.10074A>G (p.A3358=) - RELN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-37845A>G r.(?) p.(=) - benign g.103124207T>C g.103483760T>C RELN(NM_005045.4):c.10074A>G (p.A3358=), RELN(NM_173054.2):c.10074A>G (p.A3358=) - RELN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-37826G>A r.(?) p.(=) - VUS g.103124188C>T g.103483741C>T RELN(NM_173054.2):c.10093G>A (p.V3365I) - RELN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-37804A>G r.(?) p.(=) - likely benign g.103124166T>C - RELN(NM_005045.3):c.10115A>G (p.(His3372Arg)) - RELN_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-37762A>G r.(?) p.(=) - VUS g.103124124T>C - RELN(NM_005045.4):c.10157A>G (p.Q3386R) - RELN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-37067G>A r.(?) p.(=) - benign g.103123429C>T g.103482982C>T RELN(NM_005045.4):c.10182-11G>A, RELN(NM_173054.2):c.10182-11G>A - RELN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-37067G>A r.(?) p.(=) - benign g.103123429C>T g.103482982C>T RELN(NM_005045.4):c.10182-11G>A, RELN(NM_173054.2):c.10182-11G>A - RELN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-37067G>A r.(?) p.(=) - benign g.103123429C>T g.103482982C>T RELN(NM_005045.4):c.10182-11G>A, RELN(NM_173054.2):c.10182-11G>A - RELN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-36962G>A r.(?) p.(=) - likely benign g.103123324C>T - RELN(NM_005045.4):c.10276G>A (p.V3426I) - RELN_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-36960C>T r.(?) p.(=) - VUS g.103123322G>A g.103482875G>A RELN(NM_005045.3):c.10278C>T (p.V3426=) - RELN_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-26903C>A r.(?) p.(=) - VUS g.103113265G>T - RELN(NM_005045.4):c.10377C>A (p.(Tyr3459*)) - RELN_000388 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.-53-2A>G r.spl? p.? - pathogenic g.103062016T>C g.103421569T>C - - SLC26A5_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-/. - c.-53-2A>G r.spl? p.? - benign g.103062016T>C g.103421569T>C - - SLC26A5_000001 28 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116900495 Germline - 28/2795 individuals - - - Mohammed Faruq
-?/-? 3 c.89A>G r.(?) p.(Glu30Gly) - likely benign g.103061873T>C g.103421426T>C - - SLC26A5_000020 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. - c.137T>C r.(?) p.(Leu46Pro) - VUS g.103061825A>G g.103421378A>G - - SLC26A5_000022 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141952919 Germline - 5/2794 individuals - - - Mohammed Faruq
?/. - c.152+1G>A r.spl? p.? - VUS g.103061809C>T g.103421362C>T - - SLC26A5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.153-10G>A r.(=) p.(=) - likely benign g.103061334C>T g.103420887C>T SLC26A5(NM_198999.2):c.153-10G>A - PSMC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 4 c.209G>A r.(?) p.(Trp70*) - pathogenic g.103061268C>T g.103420821C>T - - SLC26A5_000019 - MORL Deafness Variation Database, PubMed: Mutai 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. - c.292+8_292+9dup r.(=) p.(=) - benign g.103061177_103061178dup g.103420730_103420731dup SLC26A5(NM_198999.2):c.292+8_292+9dupGA - PSMC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.354C>A r.(?) p.(Tyr118*) - likely pathogenic g.103053498G>T g.103413051G>T - - SLC26A5_000025 ACMG PVS1, PM2 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. - c.355C>T r.(?) p.(Pro119Ser) - likely pathogenic g.103053497G>A g.103413050G>A - - SLC26A5_000002 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
+?/. - c.355C>T r.(?) p.(Pro119Ser) - likely pathogenic g.103053497G>A g.103413050G>A - - SLC26A5_000002 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
?/. - c.355C>T r.(?) p.(Pro119Ser) - VUS g.103053497G>A - SLC26A5(NM_198999.3):c.355C>T (p.(Pro119Ser)) - SLC26A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 5 c.390A>C r.(?) p.(Arg130Ser) - pathogenic g.103053462T>G g.103413015T>G - - SLC26A5_000018 - MORL Deafness Variation Database, PubMed: Mutai 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. - c.403+14T>C r.(=) p.(=) - benign g.103053435A>G g.103412988A>G SLC26A5(NM_198999.3):c.403+14T>C - SLC26A5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.403+14T>C r.(=) p.(=) - benign g.103053435A>G g.103412988A>G SLC26A5(NM_198999.3):c.403+14T>C - SLC26A5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 6 c.449G>A r.(?) p.(Arg150Gln) - likely pathogenic g.103051988C>T g.103411541C>T - - SLC26A5_000017 - MORL Deafness Variation Database, PubMed: Toth 2007 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
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