Unique variants in the ANO10 gene

Information The variants shown are described using the NM_018075.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-69121T>C r.(?) p.(=) - likely benign g.43732510A>G g.43691018A>G ABHD5(NM_016006.5):c.26A>G (p.D9G) - ABHD5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-69107C>T r.(?) p.(=) - benign g.43732496G>A g.43691004G>A ABHD5(NM_016006.6):c.12G>A (p.E4=) - ABHD5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-83T>C r.(?) p.(=) - likely benign g.43663472A>G g.43621980A>G - - ANO10_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.5A>T r.(?) p.(Lys2Ile) - likely benign g.43647340T>A g.43605848T>A ANO10(NM_001204831.2):c.5A>T (p.K2I) - ABHD5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.132dup r.(?) p.(Asp45Argfs*9) - pathogenic g.43647221dup g.43605729dup 132dupA - ANO10_000026 - - - - Unknown - - - - - IMGAG
?/. 1 - c.223T>A r.(?) p.(Ser75Thr) - VUS g.43641990A>T g.43600498A>T - - ANO10_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.236T>G r.(?) p.(Met79Arg) - VUS g.43641977A>C g.43600485A>C ANO10(NM_001204831.2):c.236T>G (p.M79R) - ANO10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.337+1G>A r.spl? p.? ACMG pathogenic (recessive) g.43641875C>T - - - ANO10_000039 ACMG: PVS1, PM3, PM2_SUP PMID: 30515630 - - Germline ? - - - - Andreas Laner
-?/. 1 - c.472+10_472+12del r.(=) p.(=) - likely benign g.43640014_43640016del g.43598522_43598524del ANO10(NM_001204831.2):c.472+10_472+12delTAT - ABHD5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.473-6G>A r.(=) p.(=) - likely benign g.43621970C>T g.43580478C>T ANO10(NM_001204831.2):c.473-6G>A - ANO10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.486C>T r.(?) p.(Leu162=) - benign g.43621951G>A g.43580459G>A ANO10(NM_018075.4):c.486C>T (p.L162=) - ANO10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.685G>T r.(?) p.(Gly229Trp) - VUS g.43618661C>A g.43577169C>A - - ANO10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.788G>A r.(?) p.(Arg263His) - benign, likely benign g.43618558C>T g.43577066C>T ANO10(NM_018075.4):c.788G>A (p.R263H) - ANO10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.790G>A r.(?) p.(Gly264Ser) - likely benign g.43618556C>T g.43577064C>T ANO10(NM_001204831.2):c.790G>A (p.G264S) - ANO10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.924C>T r.(?) p.(Tyr308=) - likely benign g.43618422G>A g.43576930G>A ANO10(NM_001204831.2):c.924C>T (p.Y308=) - ANO10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.964G>A r.(?) p.(Val322Met) - VUS g.43618382C>T g.43576890C>T ANO10(NM_001204831.2):c.964G>A (p.V322M) - ANO10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.980A>G r.(?) p.(Tyr327Cys) - likely benign g.43618366T>C g.43576874T>C ANO10(NM_001204831.2):c.980A>G (p.Y327C), ANO10(NM_001204831.3):c.980A>G (p.Y327C) - ANO10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.1009T>G r.(?) p.(Phe337Val) - VUS g.43618337A>C g.43576845A>C - - ANO10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1011C>T r.(?) p.(Phe337=) - likely benign g.43618335G>A - ANO10(NM_001346464.1):c.1011C>T (p.F337=) - ABHD5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1021G>C r.(?) p.(Val341Leu) - VUS g.43618325C>G g.43576833C>G - - ANO10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.1066A>G r.(?) p.(Ser356Gly) - benign g.43618280T>C g.43576788T>C ANO10(NM_001204831.3):c.1066A>G (p.S356G), ANO10(NM_018075.4):c.1066A>G (p.S356G) - ANO10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 - c.1144G>T r.(?) p.(Glu382*) - pathogenic g.43618202C>A g.43576710C>A - - ANO10_000037 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144272231 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. 1 - c.1219-7_1219-6dup r.(=) p.(=) - benign g.43607241_43607242dup g.43565749_43565750dup ANO10(NM_001204831.2):c.1219-7_1219-6dupTT - ABHD5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1219-6del r.(=) p.(=) - likely benign g.43607242del g.43565750del ANO10(NM_001204831.2):c.1219-6delT - ANO10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1219-6dup r.(=) p.(=) - benign, likely benign g.43607242dup g.43565750dup ANO10(NM_001204831.1):c.1219-6dup (p.(=)), ANO10(NM_001204831.2):c.1219-6dupT - ABHD5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1219-5G>T r.spl? p.? - likely benign g.43607224C>A g.43565732C>A ANO10(NM_001204831.2):c.1219-5G>T - ANO10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 8 c.1232A>G r.(?) p.(Asn411Ser) - VUS g.43607206T>C g.43565714T>C - - ANO10_000040 - PubMed: Ganapathy 2019 - rs762428946 Germline - - - - - Johan den Dunnen
?/. 1 - c.1282C>G r.(?) p.(Leu428Val) - VUS g.43607156G>C g.43565664G>C ANO10(NM_001204831.2):c.1282C>G (p.L428V) - ANO10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1291C>T r.(?) p.(Gln431Ter) - pathogenic g.43607147G>A g.43565655G>A - - ANO10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.1293+9A>G r.(=) p.(=) - benign g.43607136T>C g.43565644T>C ANO10(NM_001204831.3):c.1293+9A>G, ANO10(NM_018075.4):c.1293+9A>G - ANO10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.1293+26C>T r.(=) p.(=) - benign g.43607119G>A g.43565627G>A ANO10(NM_018075.4):c.1293+26C>T - ANO10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1381G>A r.(?) p.(Val461Met) - likely benign g.43602807C>T g.43561315C>T ANO10(NM_001204831.2):c.1381G>A (p.V461M) - ABHD5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1385G>A r.(?) p.(Arg462Gln) - benign g.43602803C>T g.43561311C>T ANO10(NM_001204831.3):c.1385G>A (p.R462Q), ANO10(NM_018075.4):c.1385G>A (p.R462Q) - ANO10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.1474T>C r.(?) p.(Leu492=) - likely benign g.43602714A>G g.43561222A>G ANO10(NM_001204831.3):c.1474T>C (p.L492=) - ANO10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1666C>T r.(?) p.(Gln556*) - likely pathogenic g.43596772G>A g.43555280G>A - - ANO10_000007 - - - - Unknown - - - - - IMGAG
-/. 3 - c.1682C>T r.(?) p.(Thr561Met) - benign g.43591327G>A g.43549835G>A ANO10(NM_001204831.3):c.1682C>T (p.T561M), ANO10(NM_018075.4):c.1682C>T (p.T561M) - ANO10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.1683G>C r.(?) p.(Thr561=) - likely benign g.43591326C>G g.43549834C>G ANO10(NM_018075.4):c.1683G>C (p.T561=) - ANO10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1710C>T r.(?) p.(Asn570=) - likely benign g.43591299G>A g.43549807G>A ANO10(NM_001204831.2):c.1710C>T (p.N570=) - ABHD5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 11i_12i c.1798-81_1914+82del r.(?) p.(His600_Gln638del) ACMG likely pathogenic (recessive) g.43474021_43474300del - del ex12 - ANO10_000038 - - - - Germline ? - - - - Andreas Laner
?/. 1 - c.1818G>C r.(?) p.(Lys606Asn) - VUS g.43474199C>G g.43432707C>G - - ANO10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1843G>A r.(?) p.(Asp615Asn) - likely pathogenic g.43474174C>T g.43432682C>T ANO10(NM_018075.4):c.1843G>A (p.D615N) - ANO10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1864A>G r.(?) p.(Met622Val) - likely pathogenic g.43474153T>C g.43432661T>C ANO10(NM_018075.4):c.1864A>G (p.M622V) - ABHD5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1876A>G r.(?) p.(Arg626Gly) - VUS g.43474141T>C g.43432649T>C ANO10(NM_018075.4):c.1876A>G (p.R626G) - ANO10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1914+17T>A r.(=) p.(=) - likely benign g.43474086A>T g.43432594A>T ANO10(NM_018075.4):c.1914+17T>A - ANO10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1915-5752T>C r.(=) p.(=) - VUS g.43414218A>G g.43372726A>G ANO10(NM_001204831.2):c.*33+2T>C - ANO10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1965del r.(?) p.(Lys656ArgfsTer108) - VUS g.43408418del - ANO10(NM_018075.4):c.1965delG (p.K656Rfs*108) - ABHD5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.*285C>T r.(=) p.(=) - likely benign g.43408113G>A g.43366621G>A - - ANO10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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