Unique variants in the ANO5 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_213599.2 transcript reference sequence.

278 entries on 3 pages. Showing entries 1 - 100.
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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 _1_22_ c.-317_*3602{0} r.0 p.0 - pathogenic (recessive) g.(?_22044899)_(22462949_?)del - minmal 22044899-22462949del - ANO5_000269 418 kb deletion involving ANO5 PubMed: Liewluck 2013 - - Germline - - - - - Johan den Dunnen
+?/. 1 _1_7i c.-317_(648+1_649-1)del r.0? p.0? - pathogenic (recessive) g.(?_22214722)_(22249133_22257708)del g.(?_22193176)_(22227587_22236162)del del ex1-7 - ANO5_000267 - PubMed: Vazquez 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.-162A>G r.(?) p.(=) - VUS g.22214877A>G g.22193331A>G - - ANO5_000027 - - - rs61879341 Germline - - - - - Johan den Dunnen
-/., ?/. 2 1 c.-136G>C r.(?) p.(=) - benign, VUS g.22214903G>C g.22193357G>C - - ANO5_000026 VKGL data sharing initiative Nederland - - rs12792259 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.9C>G r.(?) p.(Asp3Glu) - likely benign g.22215047C>G - ANO5(NM_213599.2):c.9C>G (p.D3E) - ANO5_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 1 c.11C>G r.(?) p.(Pro4Arg) - VUS g.22215049C>G g.22193503C>G - - ANO5_000131 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 1 c.13del r.(?) p.(Asp5Ilefs*17) - pathogenic g.22215051del g.22193505del - - ANO5_000072 - - - - Germline - - - - - Tom Winder
-?/. 1 - c.41-15_41-12del r.(=) p.(=) - likely benign g.22225335_22225338del g.22203789_22203792del ANO5(NM_213599.2):c.41-15_41-12delTCTT - ANO5_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +?/., ?/. 5 1i c.41-1G>A r.spl p.? - likely pathogenic, pathogenic, pathogenic (recessive), VUS g.22225349G>A g.22203803G>A - - ANO5_000044 from website {DBsub-Emory}, no second variant PubMed: Nallamilli 2018, PubMed: Ten Dam 2019 - - Germline - - - - - Ieke Ginjaar, Madhuri Hegde, Tom Winder
+?/. 1 - c.69C>A r.(?) p.(Tyr23*) - likely pathogenic g.22225378C>A g.22203832C>A - - ANO5_000279 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
+/. 1 - c.87G>A r.spl p.? - pathogenic (recessive) g.22225396G>A g.22203850G>A - - ANO5_000271 - PubMed: Ten Dam 2019 - - Germline - - - - - Ieke Ginjaar
+/. 1 3 c.108_109del r.(?) p.(Glu36Aspfs*7) - pathogenic g.22232830_22232831del g.22211284_22211285del 108_109delGA - ANO5_000132 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 2 - c.129A>G r.(?) p.(Glu43=) - likely benign g.22232851A>G g.22211305A>G ANO5(NM_213599.2):c.129A>G (p.E43=) - ANO5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 3 c.130G>A r.(?) p.(Glu44Lys) - VUS g.22232852G>A g.22211306G>A - - ANO5_000133 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.138+9C>T r.(=) p.(=) - likely benign g.22232869C>T - ANO5(NM_213599.2):c.138+9C>T - ANO5_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3i c.138+169G>A r.(=) p.(=) - VUS g.22233029G>A g.22211483G>A - - ANO5_000009 - - - rs4922980 Germline - 0.31-0.88 - - - Johan den Dunnen
?/. 1 3i c.138+206T>C r.(=) p.(=) - VUS g.22233066T>C g.22211520T>C - - ANO5_000010 - - - rs4922981 Germline - 0.19-0.90 - - - Johan den Dunnen
+/. 2 3i c.139-1del r.spl p.? - pathogenic g.22239791del g.22218245del 139-1delG - ANO5_000134 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 4 c.139C>T r.(?) p.(Pro47Ser) - VUS g.22239792C>T g.22218246C>T - - ANO5_000135 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 4 4 c.148C>T r.(?) p.(Arg50*) - pathogenic, pathogenic (recessive) g.22239801C>T g.22218255C>T - - ANO5_000052 - PubMed: Ten Dam 2019, PubMed: Wahbi 2012, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar, Tom Winder
?/. 1 4 c.149G>A r.(?) p.(Arg50Gln) - VUS g.22239802G>A g.22218256G>A - - ANO5_000136 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., -?/., ?/. 12 4 c.155A>G r.(?) p.(Asn52Ser) - likely benign, pathogenic, pathogenic (recessive), VUS g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)), N52K - ANO5_000048 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Nallamilli 2018, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Sarkozy 2012, 2 more items - rs143777403 CLASSIFICATION record, Germline - 6/2794 individuals - - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, Mohammed Faruq
+/. 2 4 c.169C>T r.(?) p.(Arg57Trp) - pathogenic (recessive) g.22239822C>T g.22218276C>T g.48361T>C - ANO5_000272 - PubMed: Saat 2021, PubMed: Ten Dam 2019 - - Germline - - - - - Ieke Ginjaar, Ibrahim Sahin
?/. 2 4 c.170G>A r.(?) p.(Arg57Gln) - VUS g.22239823G>A g.22218277G>A ANO5(NM_213599.2):c.170G>A (p.R57Q) - ANO5_000137 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Groningen
+/., +?/., ?/. 25 4 c.172C>T r.(?) p.(Arg58Trp) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.22239825C>T g.22218279C>T NM_001142649:c.169C>T - ANO5_000039 ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4, combination of variants not reported, 6 more items PubMed: Monies 2016, PubMed: Nallamilli 2018, PubMed: Punetha 2016, PubMed: Schessl 2012, 4 more items - - CLASSIFICATION record, Germline - 3/1001 cases - - - Johan den Dunnen, Madhuri Hegde, Tom Winder, Jaya Punetha, VKGL-NL_Nijmegen
+/. 1 - c.173G>A r.(?) p.(Arg58Gln) - pathogenic (recessive) g.22239826G>A g.22218280G>A - - ANO5_000228 - PubMed: Ten Dam 2019 - - Germline - - - - - Ieke Ginjaar
+?/. 1 - c.180+2T>C r.spl p.? - likely pathogenic (recessive) g.22239835T>C g.22218289T>C - - ANO5_000249 - PubMed: Izumi 2015, Izumi 2020 (submitted) - - Germline - - - - - Johan den Dunnen
-/. 1 - c.180+21T>C r.(=) p.(=) - benign g.22239854T>C g.22218308T>C ANO5(NM_213599.2):c.180+21T>C - ANO5_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 4i c.180+223G>A r.(=) p.(=) - VUS g.22240056G>A g.22218510G>A - - ANO5_000008 - - - rs4620717 Germline - 0.02-0.47 - - - Johan den Dunnen
-?/., ?/. 2 5 c.185A>G r.(?) p.(Gln62Arg) - likely benign, VUS g.22242647A>G g.22221101A>G ANO5(NM_213599.2):c.185A>G (p.Q62R) - ANO5_000138 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
+/., +?/., ?/. 266 5 c.191dup r.(?), r.191dup p.(Asn64Lysfs*15), p.(Asn64LysfsTer15), p.Asn64Lysfs*15 ACMG likely pathogenic, pathogenic, pathogenic (recessive), VUS g.22242653dup g.22221107dup 191dupA, 192dupA, 193dupA, c.191dup, 1 more item - ANO5_000004, ANO5_000040, ANO5_000084 ACMG grading: PVS1, PS3, combination of variants not reported, from website {DBsub-Emory}, 8 more items Bolduc ASHG2011 A114, Penttila WMS2010 P1.26, PubMed: Penttila 2012, PubMed: Bolduc 2010, OMIM:var0004, 17 more items - rs137854521, rs575136178 CLASSIFICATION record, Germline, Unknown yes 1/100, 18/1001 cases, 2/210 - - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde, Tom Winder, Andreas Laner, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 5 c.217T>C r.(?) p.(Phe73Leu) - VUS g.22242679T>C g.22221133T>C - - ANO5_000139 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 3 5 c.220C>T r.(?) p.(Arg74*) - likely pathogenic, pathogenic, pathogenic (recessive) g.22242682C>T g.22221136C>T - - ANO5_000066 combination of variants not reported PubMed: Magri 2015, PubMed: Magrib 2012, PubMed: Topf 2020 - - Germline - 2/1001 cases - - - Johan den Dunnen
?/. 2 5 c.223G>C r.(?) p.(Asp75His) - VUS g.22242685G>C g.22221139G>C - - ANO5_000140 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 15 5 c.242A>G r.(?) p.(Asp81Gly) ACMG likely pathogenic, pathogenic g.22242704A>G g.22221158A>G D81G - ANO5_000056 ACMG grading: PS3, PS4, PM3, PP3; additional variants in BAG3, FLNC, CHRNE, CACNA1S, TTN x2, 2 more items Fichna ESHG2016 P10.20, PubMed: Fichna 2018, PubMed: Nallamilli 2018, PubMed: Penttila 2012, 1 more item - - Germline yes 1/82 cases LGMD - - - Johan den Dunnen, Madhuri Hegde
-?/. 1 - c.259G>A r.(?) p.(Val87Ile) - likely benign g.22242721G>A g.22221175G>A ANO5(NM_001142649.1):c.256G>A (p.(Val86Ile)) - ANO5_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.265G>T r.(?) p.(Asp89Tyr) - VUS g.22242727G>T g.22221181G>T ANO5(NM_213599.2):c.265G>T (p.D89Y) - ANO5_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 6 5 c.267T>C r.(?) p.(=), p.(Asp89=) - benign g.22242729T>C g.22221183T>C ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=), D89D - ANO5_000007 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - rs4312063 CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 - c.274A>T r.(?) p.(Lys92*) - pathogenic (recessive) g.22242736A>T g.22221190A>T - - ANO5_000273 - PubMed: Ten Dam 2019 - - Germline - - - - - Ieke Ginjaar
?/. 1 5 c.279C>T r.(?) p.(=) - VUS g.22242741C>T g.22221195C>T - - ANO5_000141 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 5 c.283G>A r.(?) p.(Glu95Lys) - likely benign g.22242745G>A g.22221199G>A Glu95Lys - ANO5_000070 - - - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 5 c.294G>A r.(?) p.(=), p.(Ala98=) - likely benign, VUS g.22242756G>A g.22221210G>A ANO5(NM_213599.2):c.294G>A (p.A98=) - ANO5_000086 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Groningen
?/. 1 5i c.295-325A>G r.(=) p.(=) - VUS g.22247205A>G g.22225659A>G - - ANO5_000011 - - - rs4509753 Germline - 0.35-0.94 - - - Johan den Dunnen
-/. 2 - c.295-8dup r.(=) p.(=) - benign g.22247522dup g.22225976dup ANO5(NM_213599.2):c.295-8_295-7insT, ANO5(NM_213599.2):c.295-8dupT - ANO5_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 5i c.295-1G>A r.spl p.? - pathogenic g.22247529G>A g.22225983G>A - - ANO5_000065 - PubMed: Schessl 2012 - - Germline - - - - - Johan den Dunnen
+/. 2 6 c.304_308del r.(?) p.(Lys102Valfs*2) - pathogenic g.22247539_22247543del g.22225993_22225997del 304_308delAAAGA - ANO5_000142 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.317C>A r.(?) p.(Thr106Asn) - VUS g.22247552C>A g.22226006C>A ANO5(NM_213599.2):c.317C>A (p.T106N) - ANO5_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 6 c.323T>G r.(?) p.(Leu108Arg) - pathogenic g.22247558T>G g.22226012T>G - - ANO5_000050 - PubMed: Sarkozy 2012, PubMed: Wahbi 2012 - - Germline - - - - - Johan den Dunnen
?/. 1 6 c.331A>C r.(?) p.(Thr111Pro) - VUS g.22247566A>C g.22226020A>C - - ANO5_000143 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 6 c.352del r.(?) p.(Glu118Lysfs*23) - pathogenic (recessive) g.22247587del g.22226041del - - ANO5_000075 - PubMed: Punetha 2016 - - Unknown - - - - - Jaya Punetha
+?/. 1 6i c.363+2T>C r.(spl?) p.? - likely pathogenic g.22247600T>C g.22226054T>C - - ANO5_000074 - - - - Germline - - - - - Tom Winder
?/. 2 6i c.363+4A>G r.(spl?), r.spl? p.(?), p.? - VUS g.22247602A>G g.22226056A>G - - ANO5_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder
-/., ?/. 3 6i c.364-8del r.(=) p.(=) - benign, VUS g.22248840del g.22227294del ANO5(NM_213599.2):c.364-8delT - ANO5_000045, ANO5_000090, ANO5_000091 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Groningen, VKGL-NL_AMC
+?/. 1 - c.364-2A>G r.spl p.? - likely pathogenic g.22248846A>G g.22227300A>G - - ANO5_000280 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - Johan den Dunnen
+/. 1 - c.364-1G>A r.spl? p.? - pathogenic g.22248847G>A g.22227301G>A - - ANO5_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.368C>T r.(?) p.(Ser123Leu) - pathogenic (recessive) g.22248852C>T g.22227306C>T - - ANO5_000229 - PubMed: Ten Dam 2019 - - Germline - - - - - Ieke Ginjaar
+/., ?/. 2 - c.377G>T r.(?) p.(Gly126Val) - pathogenic (recessive), VUS g.22248861G>T g.22227315G>T - - ANO5_000125 VKGL data sharing initiative Nederland PubMed: Ten Dam 2019 - - CLASSIFICATION record, Germline - - - - - Ieke Ginjaar, VKGL-NL_Nijmegen
?/. 1 7 c.385T>C r.(?) p.(Tyr129His) - VUS g.22248869T>C g.22227323T>C - - ANO5_000144 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.395A>T r.(?) p.(Lys132Met) - likely pathogenic g.22248879A>T g.22227333A>T - - ANO5_000281 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
+/. 3 7 c.397A>T r.(?) p.(Ile133Phe) - pathogenic, pathogenic (recessive) g.22248881A>T g.22227335A>T - - ANO5_000067 - PubMed: Magri 2015, PubMed: Magrib 2012 - - Germline - - - - - Johan den Dunnen
?/. 1 7 c.415G>T r.(?) p.(Val139Leu) - VUS g.22248899G>T g.22227353G>T - - ANO5_000145 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.424A>T r.(?) p.(Thr142Ser) - VUS g.22248908A>T g.22227362A>T - - ANO5_000146 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.429T>C r.(?) p.(Tyr143=) - likely benign g.22248913T>C g.22227367T>C ANO5(NM_213599.2):c.429T>C (p.Y143=) - ANO5_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.463G>A r.(?) p.(Glu155Lys) - VUS g.22248947G>A g.22227401G>A ANO5(NM_213599.2):c.463G>A (p.E155K) - ANO5_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.478C>T r.(?) p.(Arg160Cys) - likely benign g.22248962C>T - ANO5(NM_213599.2):c.478C>T (p.R160C) - ANO5_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 7 c.479G>A r.(?) p.(Arg160His) - VUS g.22248963G>A g.22227417G>A - - ANO5_000147 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.482C>T r.(?) p.(Pro161Leu) - VUS g.22248966C>T g.22227420C>T - - ANO5_000148 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., ?/. 2 7 c.553G>C r.(?) p.(Glu185Gln) - likely benign, VUS g.22249037G>C g.22227491G>C ANO5(NM_213599.2):c.553G>C (p.E185Q) - ANO5_000092 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Groningen
?/. 1 7 c.579A>T r.(?) p.(Arg193Ser) - VUS g.22249063A>T g.22227517A>T - - ANO5_000149 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.581A>G r.(?) p.(His194Arg) - likely benign g.22249065A>G g.22227519A>G ANO5(NM_213599.2):c.581A>G (p.H194R) - ANO5_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.583C>T r.(?) p.(Arg195Trp) - likely pathogenic g.22249067C>T - - - ANO5_000296 - - - rs149040903 Unknown - - - - - MobiDetails
-/. 1 - c.604G>A r.(?) p.(Glu202Lys) - benign g.22249088G>A g.22227542G>A ANO5(NM_213599.2):c.604G>A (p.E202K) - ANO5_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.616A>G r.(?) p.(Thr206Ala) - benign g.22249100A>G g.22227554A>G ANO5(NM_213599.2):c.616A>G (p.T206A) - ANO5_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.619T>G r.(?) p.(Phe207Val) - VUS g.22249103T>G - ANO5(NM_213599.2):c.619T>G (p.F207V) - ANO5_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 7i c.648+5G>C r.spl? p.? - VUS g.22249137G>C g.22227591G>C - - ANO5_000150 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 7i c.648+6T>A r.(spl?) p.(?) - likely pathogenic g.22249138T>A g.22227592T>A - - ANO5_000041 - - - - Germline - - - - - Tom Winder
?/. 1 7i c.649-166A>G r.(=) p.(=) - VUS g.22257543A>G g.22235997A>G - - ANO5_000013 - - - rs4534588 Germline - 0-0.53 - - - Johan den Dunnen
?/. 1 7i c.649-114T>G r.(=) p.(=) - VUS g.22257595T>G g.22236049T>G - - ANO5_000012 - - - rs11820954 Germline - 0-0.55 - - - Johan den Dunnen
+?/. 1 - c.649-2A>G r.spl p.? - likely pathogenic g.22257707A>G g.22236161A>G - - ANO5_000282 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
?/. 1 8 c.653A>G r.(?) p.(Tyr218Cys) - VUS g.22257713A>G g.22236167A>G - - ANO5_000151 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.656A>G r.(?) p.(Tyr219Cys) - VUS g.22257716A>G g.22236170A>G - - ANO5_000152 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.664T>C r.(?) p.(Ser222Pro) - VUS g.22257724T>C g.22236178T>C - - ANO5_000153 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 - c.674C>T r.(?) p.(Pro225Leu) - VUS g.22257734C>T g.22236188C>T ANO5(NM_213599.2):c.674C>T (p.(Pro225Leu), p.P225L) - ANO5_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.680G>C r.(?) p.(Gly227Ala) - likely benign g.22257740G>C g.22236194G>C ANO5(NM_001142649.1):c.677G>C (p.(Gly226Ala)) - ANO5_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3 8 c.689A>G r.(?) p.(Asp230Gly) - VUS g.22257749A>G g.22236203A>G - - ANO5_000154 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/., ?/. 39 8 c.692G>T r.(?) p.(Gly231Val) - likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.22257752G>T g.22236206G>T ANO5(NM_213599.2):c.692G>T (p.G231V, p.(Gly231Val)), NM_00114264:689G>T (Gly230Val) - ANO5_000005 combination of variants not reported, no second variant, not in 210 control chromosomes, 1 more item PubMed: Bolduc 2010, OMIM:var0005, PubMed: Liewluck 2013, PubMed: Nallamilli 2018, PubMed: Topf 2020, 6 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested) - 2/1001 cases - - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde, Tom Winder, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.720G>T r.(?) p.(Leu240=) - likely benign g.22257780G>T g.22236234G>T ANO5(NM_213599.2):c.720G>T (p.L240=) - ANO5_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/., ?/. 4 8 c.749A>G r.(?) p.(Tyr250Cys) - likely pathogenic, VUS g.22257809A>G g.22236263A>G - - ANO5_000155 combination of variants not reported PubMed: Nallamilli 2018, PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen, Madhuri Hegde
+/. 2 8i c.762+1G>A r.spl p.? - pathogenic g.22257823G>A g.22236277G>A - - ANO5_000156 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8i c.762+87G>A r.(=) p.(=) - VUS g.22257909G>A g.22236363G>A - - ANO5_000015 - - - rs11026471 Germline - 0-0.53 - - - Johan den Dunnen
+?/. 1 - c.764G>A r.(?) p.(Gly255Asp) - likely pathogenic g.22261116G>A g.22239570G>A - - ANO5_000283 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - Johan den Dunnen
?/. 1 - c.788C>T r.(?) p.(Pro263Leu) - VUS g.22261140C>T - ANO5(NM_213599.2):c.788C>T (p.P263L) - ANO5_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 3 9 c.797C>T r.(?) p.(Pro266Leu) - VUS g.22261149C>T g.22239603C>T - - ANO5_000157 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.800C>G r.(?) p.(Thr267Ser) - VUS g.22261152C>G g.22239606C>G ANO5(NM_001142649.1):c.797C>G (p.(Thr266Ser)) - ANO5_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 9 c.803A>G r.(?) p.(Asn268Ser) - VUS g.22261155A>G g.22239609A>G - - ANO5_000158 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 9 c.815C>G r.(?) p.(Thr272Arg) - VUS g.22261167C>G g.22239621C>G - - ANO5_000159 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/., ?/. 4 9 c.817C>T r.(?) p.(Leu273Phe) - likely pathogenic, pathogenic (recessive), VUS g.22261169C>T g.22239623C>T - - ANO5_000160 combination of variants not reported PubMed: Magri 2015, PubMed: Nallamilli 2018, PubMed: Ten Dam 2019, PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde
+/. 2 - c.835C>T r.(?) p.(Arg279*), p.(Arg279Ter) - pathogenic, pathogenic (recessive) g.22261187C>T g.22239641C>T ANO5(NM_213599.2):c.835C>T (p.R279*) - ANO5_000241 VKGL data sharing initiative Nederland PubMed: Reddy 2017 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 - c.842C>T r.(?) p.(Ser281Phe) - VUS g.22261194C>T g.22239648C>T ANO5(NM_213599.2):c.842C>T (p.S281F) - ANO5_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 9 c.845A>G r.(?) p.(Tyr282Cys) - VUS g.22261197A>G g.22239651A>G - - ANO5_000161 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
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