Unique variants in gene ANO5

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.

233 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 c.-162A>G - r.(?) p.(=) g.22214877A>G g.22193331A>G - - ANO5_000027 - - - rs61879341 Germline - - - - - Johan den Dunnen
-/., ?/. 2 1 c.-136G>C benign r.(?) p.(=) g.22214903G>C g.22193357G>C - - ANO5_000026 VKGL data sharing initiative Nederland - - rs12792259 CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
+/. 1 13 c.(1202G>Aˆ1203G>A) - r.(?) p.(Trp401*) g.(22276938G>Aˆ22276939G>A) - W401X - ANO5_000076 - Fichna ESHG2016 P10.20 - - Germline yes 1/82 cases LGMD - - - Johan den Dunnen
?/. 1 1 c.11C>G VUS r.(?) p.(Pro4Arg) g.22215049C>G - - - ANO5_000131 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 1 c.13delG - r.(?) p.(Asp5Ilefs*17) g.22215051delG g.22193505delG - - ANO5_000072 - - - - Germline - - - - - Tom Winder
-?/. 1 - c.41-15_41-12del likely benign r.(=) p.(=) g.22225335_22225338del - ANO5(NM_213599.2):c.41-15_41-12delTCTT - ANO5_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/., +?/. 4 1i c.41-1G>A pathogenic r.spl p.? g.22225349G>A g.22203803G>A - - ANO5_000044 from website {DBsub-Emory}, no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder
+/. 1 3 c.108_109del pathogenic r.(?) p.(Glu36Aspfs*7) g.22232830_22232831del - 108_109delGA - ANO5_000132 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 2 - c.129A>G likely benign r.(?) p.(=) g.22232851A>G - ANO5(NM_213599.2):c.129A>G (p.E43=) - ANO5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
?/. 1 3 c.130G>A VUS r.(?) p.(Glu44Lys) g.22232852G>A - - - ANO5_000133 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3i c.138+169G>A - r.(=) p.(=) 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.(=) g.22233066T>C g.22211520T>C - - ANO5_000010 - - - rs4922981 Germline - 0.19-0.90 - - - Johan den Dunnen
+/. 2 3i c.139-1del pathogenic r.spl p.? g.22239791del - 139-1delG - ANO5_000134 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 4 c.139C>T VUS r.(?) p.(Pro47Ser) g.22239792C>T - - - ANO5_000135 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 4 c.148C>T - r.?, r.(?) p.(Arg50*) g.22239801C>T g.22218255C>T - - ANO5_000052 - PubMed: Wahbi 2012 - - Germline - - - - - Tom Winder, Johan den Dunnen
?/. 1 4 c.149G>A VUS r.(?) p.(Arg50Gln) g.22239802G>A - - - ANO5_000136 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., ?/., +/. 9 4 c.155A>G likely benign, VUS r.(?) p.(Asn52Ser) g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)), N52K - ANO5_000048 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018, PubMed: Wahbi 2012, PubMed: Sarkozy 2012 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, Madhuri Hegde, Johan den Dunnen, VKGL-NL_Groningen
?/. 2 4 c.170G>A VUS r.(?) p.(Arg57Gln) g.22239823G>A - ANO5(NM_213599.2):c.170G>A (p.R57Q) - ANO5_000137 VKGL data sharing initiative Nederland, no second variant PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Madhuri Hegde
+/., ?/., +?/. 24 4, 4i c.172C>T VUS, pathogenic, ACMG: 5, likely pathogenic r.(?) p.(Arg58Trp) g.22239825C>T g.22218279C>T NM_001142649:c.169C>T - ANO5_000039 variant apparently homozygous; no second variant, ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4, 5 more items PubMed: Schessl 2012, PubMed: Nallamilli 2018, PubMed: Monies 2016, PubMed: Witting 2012, 1 more item - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, Tom Winder, Madhuri Hegde, Jaya Punetha, VKGL-NL
+/. 1 - c.173G>A pathogenic (recessive) r.(?) p.(Arg58Gln) g.22239826G>A - - - ANO5_000228 - ten Dam, submitted 2019 - - Germline - - - - - Ieke Ginjaar
+?/. 1 - c.180+2T>C likely pathogenic (recessive) r.spl p.? g.22239835T>C g.22218289T>C - - ANO5_000249 - PubMed: Izumi 2015 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.180+21T>C benign r.(=) p.(=) g.22239854T>C - ANO5(NM_213599.2):c.180+21T>C - ANO5_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 4i c.180+223G>A - r.(=) p.(=) g.22240056G>A g.22218510G>A - - ANO5_000008 - - - rs4620717 Germline - 0.02-0.47 - - - Johan den Dunnen
?/. 1 5 c.185A>G VUS r.(?) p.(Gln62Arg) g.22242647A>G - - - ANO5_000138 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 102 5 c.191dup pathogenic, ACMG: 5, pathogenic (recessive) r.(?) p.(Asn64Lysfs*15) g.22242653dup, g.22242647dup - 191dupA, 1 more item - ANO5_000084 no second variant, VKGL data sharing initiative Nederland, variant apparently homozygous, 3 more items PubMed: Nallamilli 2018, ten Dam, submitted 2019 - rs575136178 Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Andreas Laner, VKGL-NL_Leiden, VKGL-NL_Groningen, Ieke Ginjaar
+/., ?/. 114 5 c.191dupA - r.(?), r.191dup p.(Asn64Lysfs*15), p.Asn64Lysfs*15 g.22242653dupA g.22221107dupA 191dupA, c.191dup - ANO5_000004, ANO5_000040 not in 362 control chromosomes, nonsense mediated mRNA decay, from website {DBsub-Emory}, 1 more item Penttila WMS2010 P1.26, PubMed: Penttila 2012, PubMed: Bolduc 2010, OMIM:var0004, Bolduc ASHG2011 A114, 9 more items - - Germline, Unknown - 1/100, 2/210 - - - Tom Winder, Johan den Dunnen, Madhuri Hegde
?/. 1 5 c.217T>C VUS r.(?) p.(Phe73Leu) g.22242679T>C - - - ANO5_000139 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 5 c.220C>T - r.(?) p.(Arg74*) g.22242682C>T g.22221136C>T - - ANO5_000066 - PubMed: Magrib 2012 - - Germline - - - - - Johan den Dunnen
?/. 2 5 c.223G>C VUS r.(?) p.(Asp75His) g.22242685G>C - - - ANO5_000140 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 15 5 c.242A>G likely pathogenic, ACMG: 4 r.(?) p.(Asp81Gly) g.22242704A>G g.22221158A>G D81G - ANO5_000056 no second variant, ACMG grading: PS3, PS4, PM3, PP3; additional variants in NEB, DES, TTN, 1 more item Fichna ESHG2016 P10.20, PubMed: Nallamilli 2018, PubMed: Sarkozy 2012, PubMed: Fichna 2018, 1 more item - - Germline yes 1/82 cases LGMD - - - Johan den Dunnen, Madhuri Hegde
-?/. 1 - c.259G>A likely benign r.(?) p.(Val87Ile) g.22242721G>A - ANO5(NM_001142649.1):c.256G>A (p.(Val86Ile)) - ANO5_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.265G>T VUS r.(?) p.(Asp89Tyr) g.22242727G>T - ANO5(NM_213599.2):c.265G>T (p.D89Y) - ANO5_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 6 5 c.267T>C benign r.(?) p.(=) 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 VKGL data sharing initiative Nederland, from website {DBsub-Emory} - - rs4312063 CLASSIFICATION record, Germline - - - - - VKGL-NL_VUmc, Madhuri Hegde, VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 5 c.279C>T VUS r.(?) p.(=) g.22242741C>T - - - ANO5_000141 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 5 c.283G>A - r.(?) p.(Glu95Lys) g.22242745G>A g.22221199G>A Glu95Lys - ANO5_000070 - - - - Germline - - - - - Johan den Dunnen
?/., -?/. 2 5 c.294G>A VUS, likely benign r.(?) p.(=) g.22242756G>A - ANO5(NM_213599.2):c.294G>A (p.A98=) - ANO5_000086 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL
?/. 1 5i c.295-325A>G - r.(=) p.(=) g.22247205A>G g.22225659A>G - - ANO5_000011 - - - rs4509753 Germline - 0.35-0.94 - - - Johan den Dunnen
-/. 2 - c.295-8dup benign r.(=) p.(=) g.22247522dup - 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_AMC, VKGL-NL_Groningen
+/. 1 5i c.295-1G>A - r.spl p.? g.22247529G>A g.22225983G>A - - ANO5_000065 - PubMed: Schessl 2012 - - Germline - - - - - Johan den Dunnen
+/. 2 6 c.304_308del pathogenic r.(?) p.(Lys102Valfs*2) g.22247539_22247543del - 304_308delAAAGA - ANO5_000142 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.317C>A VUS r.(?) p.(Thr106Asn) g.22247552C>A - ANO5(NM_213599.2):c.317C>A (p.T106N) - ANO5_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 6 c.323T>G - r.(?) p.(Leu108Arg) g.22247558T>G g.22226012T>G - - ANO5_000050 - PubMed: Wahbi 2012, PubMed: Sarkozy 2012 - - Germline - - - - - Johan den Dunnen
?/. 1 6 c.331A>C VUS r.(?) p.(Thr111Pro) g.22247566A>C - - - ANO5_000143 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 2 6 c.352del - r.(?) p.(Glu118Lysfs*23) g.22247587del g.22226041del - - ANO5_000075 - - - - Unknown - - - - - Jaya Punetha
+?/. 1 6i c.363+2T>C - r.(spl?) p.? g.22247600T>C g.22226054T>C - - ANO5_000074 - - - - Germline - - - - - Tom Winder
?/. 2 6i c.363+4A>G VUS r.spl?, r.(spl?) p.?, p.(?) g.22247602A>G g.22226056A>G - - ANO5_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder
-/. 2 - c.364-8del benign r.(=) p.(=) g.22248840del - ANO5(NM_213599.2):c.364-8delT - ANO5_000091, ANO5_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 6i c.364-8delT - r.(?) p.(=) g.22248840delT g.22227294delT - - ANO5_000045 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
+/. 1 - c.364-1G>A pathogenic r.spl? p.? g.22248847G>A - - - ANO5_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.368C>T pathogenic (recessive) r.(?) p.(Ser123Leu) g.22248852C>T - - - ANO5_000229 - ten Dam, submitted 2019 - - Germline - - - - - Ieke Ginjaar
?/. 1 - c.377G>T VUS r.(?) p.(Gly126Val) g.22248861G>T - - - ANO5_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 7 c.385T>C VUS r.(?) p.(Tyr129His) g.22248869T>C - - - ANO5_000144 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 7 c.397A>T - r.(?) p.(Ile133Phe) g.22248881A>T g.22227335A>T - - ANO5_000067 - PubMed: Magrib 2012 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.405C>A likely benign r.(?) p.(=) g.22248889C>A - ANO5(NM_213599.2):c.405C>A (p.A135=) - ANO5_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 7 c.415G>T VUS r.(?) p.(Val139Leu) g.22248899G>T - - - ANO5_000145 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.424A>T VUS r.(?) p.(Thr142Ser) g.22248908A>T - - - ANO5_000146 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.429T>C likely benign r.(?) p.(=) g.22248913T>C - ANO5(NM_213599.2):c.429T>C (p.Y143=) - ANO5_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 7 c.479G>A VUS r.(?) p.(Arg160His) g.22248963G>A - - - ANO5_000147 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.482C>T VUS r.(?) p.(Pro161Leu) g.22248966C>T - - - ANO5_000148 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., ?/. 2 7 c.553G>C likely benign, VUS r.(?) p.(Glu185Gln) g.22249037G>C - ANO5(NM_213599.2):c.553G>C (p.E185Q) - ANO5_000092 VKGL data sharing initiative Nederland, no second variant PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Madhuri Hegde
?/. 1 7 c.579A>T VUS r.(?) p.(Arg193Ser) g.22249063A>T - - - ANO5_000149 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.581A>G likely benign r.(?) p.(His194Arg) g.22249065A>G - ANO5(NM_213599.2):c.581A>G (p.H194R) - ANO5_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.604G>A benign r.(?) p.(Glu202Lys) g.22249088G>A - ANO5(NM_213599.2):c.604G>A (p.E202K) - ANO5_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.616A>G benign r.(?) p.(Thr206Ala) g.22249100A>G - ANO5(NM_213599.2):c.616A>G (p.T206A) - ANO5_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 7i c.648+5G>C VUS r.spl? p.? g.22249137G>C - - - ANO5_000150 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 7i c.648+6T>A - r.(spl?) p.(?) g.22249138T>A g.22227592T>A - - ANO5_000041 - - - - Germline - - - - - Tom Winder
?/. 1 7i c.649-166A>G - r.(=) p.(=) g.22257543A>G g.22235997A>G - - ANO5_000013 - - - rs4534588 Germline - 0-0.53 - - - Johan den Dunnen
?/. 1 7i c.649-114T>G - r.(=) p.(=) g.22257595T>G g.22236049T>G - - ANO5_000012 - - - rs11820954 Germline - 0-0.55 - - - Johan den Dunnen
?/. 1 8 c.653A>G VUS r.(?) p.(Tyr218Cys) g.22257713A>G - - - ANO5_000151 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.656A>G VUS r.(?) p.(Tyr219Cys) g.22257716A>G - - - ANO5_000152 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.664T>C VUS r.(?) p.(Ser222Pro) g.22257724T>C - - - ANO5_000153 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.674C>T VUS r.(?) p.(Pro225Leu) g.22257734C>T - ANO5(NM_213599.2):c.674C>T (p.P225L) - ANO5_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.680G>C likely benign r.(?) p.(Gly227Ala) g.22257740G>C - ANO5(NM_001142649.1):c.677G>C (p.(Gly226Ala)) - ANO5_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 8 c.689A>G VUS r.(?) p.(Asp230Gly) g.22257749A>G - - - ANO5_000154 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/., ?/. 29 8 c.692G>T pathogenic, likely pathogenic, VUS r.(?) p.(Gly231Val) g.22257752G>T g.22236206G>T ANO5(NM_213599.2):c.692G>T (p.G231V) - ANO5_000005 VKGL data sharing initiative Nederland, no second variant, not in 210 control chromosomes PubMed: Penttila 2012, PubMed: Nallamilli 2018, PubMed: Wahbi 2012, PubMed: Sarkozy 2012, 1 more item - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_VUmc, Tom Winder, VKGL-NL_Groningen
-/., -?/. 2 - c.720G>T benign, likely benign r.(?) p.(=) g.22257780G>T - ANO5(NM_213599.2):c.720G>T (p.L240=) - ANO5_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
?/. 3 8 c.749A>G VUS r.(?) p.(Tyr250Cys) g.22257809A>G - - - ANO5_000155 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 8i c.762+1G>A pathogenic r.spl p.? g.22257823G>A - - - ANO5_000156 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8i c.762+87G>A - r.(=) p.(=) g.22257909G>A g.22236363G>A - - ANO5_000015 - - - rs11026471 Germline - 0-0.53 - - - Johan den Dunnen
?/. 3 9 c.797C>T VUS r.(?) p.(Pro266Leu) g.22261149C>T - - - ANO5_000157 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.800C>G VUS r.(?) p.(Thr267Ser) g.22261152C>G - ANO5(NM_001142649.1):c.797C>G (p.(Thr266Ser)) - ANO5_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 9 c.803A>G VUS r.(?) p.(Asn268Ser) g.22261155A>G - - - ANO5_000158 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 9 c.815C>G VUS r.(?) p.(Thr272Arg) g.22261167C>G - - - ANO5_000159 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 9 c.817C>T VUS r.(?) p.(Leu273Phe) g.22261169C>T - - - ANO5_000160 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.835C>T pathogenic r.(?) p.(Arg279*) g.22261187C>T - ANO5(NM_213599.2):c.835C>T (p.R279*) - ANO5_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.842C>T VUS r.(?) p.(Ser281Phe) g.22261194C>T - ANO5(NM_213599.2):c.842C>T (p.S281F) - ANO5_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 9 c.845A>G VUS r.(?) p.(Tyr282Cys) g.22261197A>G - - - ANO5_000161 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.878+3_878+6del likely pathogenic r.spl? p.? g.22261233_22261236del - ANO5(NM_213599.2):c.878+3_878+6delAAGT - ANO5_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 9i c.879-76T>A - r.(=) p.(=) g.22271707T>A g.22250161T>A - - ANO5_000017 - - - rs7104736 Germline - - - - - Johan den Dunnen
-/. 2 9i c.879-18T>C benign r.(?), r.(=) p.(=) g.22271765T>C g.22250219T>C ANO5(NM_213599.2):c.879-18T>C - ANO5_000016 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - rs7104758 Germline, CLASSIFICATION record - - - - - Madhuri Hegde, VKGL-NL
?/. 1 9i c.879-7_879-6del VUS r.spl p.? g.22271776_22271777del - 879-7_879-6delTT - ANO5_000162 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.879G>T VUS r.(?) p.(Lys293Asn) g.22271783G>T - - - ANO5_000163 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.880A>T VUS r.(?) p.(Asn294Tyr) g.22271784A>T - - - ANO5_000164 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 10 c.889G>T pathogenic r.(?) p.(Gly297*) g.22271793G>T - - - ANO5_000165 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.899T>A VUS r.(?) p.(Ile300Asn) g.22271803T>A - - - ANO5_000166 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 10 c.923G>A VUS r.(?) p.(Gly308Glu) g.22271827G>A - - - ANO5_000167 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 10 c.955G>A VUS r.(?) p.(Val319Ile) g.22271859G>A - - - ANO5_000168 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.966A>G likely benign r.(?) p.(=) g.22271870A>G - ANO5(NM_213599.2):c.966A>G (p.L322=) - ANO5_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 5 10 c.966A>T benign r.(?) p.(Leu322Phe) g.22271870A>T g.22250324A>T ANO5(NM_001142649.2):c.963A>T (p.L321F), ANO5(NM_213599.2):c.966A>T (p.L322F) - ANO5_000018 VKGL data sharing initiative Nederland, from website {DBsub-Emory} - - rs7481951 CLASSIFICATION record, Germline - - - - - VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_Groningen, Madhuri Hegde, VKGL-NL_Nijmegen
+/. 4 10 c.989dup pathogenic r.(?) p.(Leu330Phefs*6) g.22271893dup - 989dupT - ANO5_000169 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
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