View all genomic variants

142088 entries on 1421 pages. Showing entries 1 - 100.
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Variant ID     

Effect     

Chr     

AscendingDNA change (genomic) (hg19)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
0000055807 -?/. 1 g.(151446793_151485910)::(24792059_24798018) hg18/hg19 g.(149713417_149752534)::(23122059_23128018) - chr1_000447 - PubMed: Saadi 2011, Journal: Saadi 2011 - Unknown yes - - 0 - Johan den Dunnen
0000079708 +/. 1 g.(pter_qter)del - - chr1_000750 isodisomy, paternal PubMed: DDDS 2015, Journal: DDDS 2015 - Uniparental disomy, paternal allele - - - 0 - Johan den Dunnen
0000079319 +/. 1 g.(pter_qter)dup - - chr1_000728 isodisomy, paternal PubMed: DDDS 2015, Journal: DDDS 2015 - Uniparental disomy, paternal allele - - - 0 - Johan den Dunnen
0000001450 +/+ 1 g.45196349_45196360(30_125) Dodecamer repeat expansion - chr1_000002 - PubMed: Lafrenière al. 1997 - Germline yes - - - - Anne Polvi
0000065317 -/- 1 g.= reference allele - CYP4A22_000000 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - Germline - 1/191 individuals - 0 - Johan den Dunnen
0000021711 ?/? 1 g.? - - NPHS2_000000 unknown variant 2nd chromosome - - Germline - - - - - Johan den Dunnen
0000021713 ?/? 1 g.? - - NPHS2_000000 unknown variant 2nd chromosome - - Germline - - - - - Johan den Dunnen
0000021714 ?/? 1 g.? - - NPHS2_000000 unknown variant 2nd chromosome - - Germline - - - - - Johan den Dunnen
0000021722 ?/? 1 g.? - - NPHS2_000000 unknown variant 2nd chromosome - - Germline - - - - - Johan den Dunnen
0000031230 +/? 1 g.? E61X - CHIA_000001 variant described based on unknown transcript PubMed: Bauer 2012 - Germline yes - - 0 - Johan den Dunnen
0000031231 ?/? 1 g.? G209E - CHIA_000002 variant not expressed, upstream stop codon; variant described based on unknown transcript PubMed: Bauer 2012 - Germline yes - - 0 - Johan den Dunnen
0000117651 +/. 1 g.? W259X - ACTN2_000082 - Journal: Fatkin 2016 - Germline - - - 0 - Johan den Dunnen
0000120202 +?/. 1 g.? 3340delC - NPHS2_000000 - PubMed: Briggs 2001 - Germline ? - - 0 - Stéphanie Cornelis
0000120530 +?/. 1 g.? C6007T - NPHS2_000000 - PubMed: Nasonkin 1998 - Germline ? - - 0 - Stéphanie Cornelis
0000120532 +?/. 1 g.? C6007T - NPHS2_000000 - PubMed: Nasonkin 1998 - Germline ? - - 0 - Stéphanie Cornelis
0000121466 +?/. 1 g.? deletion - NPHS2_000000 - PubMed: Birch 2001 - Germline ? - - 0 - Stéphanie Cornelis
0000121866 +/. 1 g.? Y245X(735T>G) - NPHS2_000000 - PubMed: Stenirri 2004 - Germline - - - 0 - Stéphanie Cornelis
0000122339 +?/. 1 g.? 4021ins24bp - ABCA4_000000 - PubMed: Passerini 2010 - Germline - - - 0 - Stéphanie Cornelis
0000123155 +?/. 1 g.? c.3385C>T - ABCA4_000000 - PubMed: Zernant 2011 - Germline ? - - 0 - Stéphanie Cornelis
0000123486 ?/. 1 g.? Y850K - ABCA4_000000 - PubMed: Testa 2012 - Germline ? - - 0 - Stéphanie Cornelis
0000125716 +/. 1 g.? D654N - ABCA4_000000 - PubMed: Cideciyan 2009 - Germline ? - - 0 - Stéphanie Cornelis
0000163062 +/. 1 g.? - - CDC42_000002 - Takenouchi, IRDiRC 2017 - De novo - - - 0 - Johan den Dunnen
0000140421 -?/. 1 g.[(104153400_104211327)inv; (104219543_104219544)ins(104103733_104219543); (104219544_104262492)delins(104103733_104168400)] - - AMY2B_033201 triplication allele with inverted AMY2A-AMY1A copy followed by two repeats of (AMY2B-AMY2A-AMY1) copies Shwan, submitted - Germline - - - 0 - John Armour
0000140418 +?/. 1 g.[(104153400_104211327)inv; (104219543_104219544)ins(104103733_104219543[2]); (104219544_104262492)delins(104103733_104168400)] - - AMY2B_044301 quadruplication allele with inverted AMY2A-AMY1A copy followed by two AMY2B-AMY2A-AMY1A copies and one AMY2B-AMY2A-AMY1C copy Shwan, submitted - Germline - - - 0 - John Armour
0000140420 +?/. 1 g.[(104153400_104211327)inv; (104219543_104219544)ins(104103733_104219543[3]); (104219544_104262492)delins(104103733_104168400)] - - AMY2B_055401 quintuplication allele with inverted AMY2A-AMY1A copy followed by three AMY2B-AMY2A-AMY1A and one AMY2B-AMY2A-AMY1C copies Shwan, submitted - Germline - - - 0 - John Armour
0000140408 ?/. 1 g.[(104208000_104200000)ins(104103000_?)_(?_104137000)inv;(104137000_?)_(?_104216600)dup;(104216000_?)_(?_104307000)del] - - AMY2B_022200 reference haplotype AH4B2, duplicated copy AMY2B-AMY1A region (AMY2B gene inverted) and deleted copy AMY1B-AMY1C region PubMed: Usher 2015, Journal: Usher 2015 - Germline - 0.02 - 0 - Johan den Dunnen
0000140409 +/. 1 g.[104153701_104161396del;104161926_104226715del] 104161926_104226715del - AMY2B_010011 75 kb deletion AMY2A-AMY1A region PubMed: Carpenter 2015, Journal: Carpenter 2015 - Germline - - - 0 - Johan den Dunnen
0000140429 +?/. 1 g.[104219543_104262492delins104103733_104200568;104153629_104168400] - - AMY2B_023201 - Shwan, submitted - Germline - - - 0 - John Armour
0000140426 +?/. 1 g.[104262492_104262493ins104168400_104211327;10415020_104262492;104168400_104262492] - - AMY2B_012341 complex allele with, between AMYP1 and AMY1C, insertion of AMY1-AMY2A-(AMY1A-AMY1B-AMYP1[2]) Shwan, submitted - Germline - - - 0 - John Armour
0000140427 +?/. 1 g.[104262492_104262493ins104168400_104211327;10415020_104262492;104168400_104262492] - - AMY2B_012341 complex allele with, between AMYP1 and AMY1C, insertion of AMY1-AMY2A-(AMY1A-AMY1B-AMYP1[2]) Shwan, submitted - Germline - - - 0 - John Armour
0000116120 ?/? 1 g.? P131R/exon 2 splice variant - FH_000012 - PubMed: Pollard - Germline - - - 0 - Jean-Pierre Bayley
0000003364 ?/. 1 g.862383C>T - - SAMD11_000001 - - - Germline - - - - - Yu Sun
0000146002 ?/. 1 g.898757G>C - - KLHL17_000001 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
0000146003 +?/. 1 g.909276G>C - - PLEKHN1_000001 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
0000011345 ?/. 1 g.930567A>G - - chr1_000223 - - - Germline - - - - - Yu Sun
0000003365 ?/. 1 g.943250C>T - - chr1_000224 - - - Germline - - - - - Yu Sun
0000011346 ?/. 1 g.943250C>T - - chr1_000224 - - - Germline - - - - - Yu Sun
0000003366 ?/. 1 g.943468T>C - - chr1_000226 - - - Germline - - - - - Yu Sun
0000011347 ?/. 1 g.943468T>C - - chr1_000226 - - - Germline - - - - - Yu Sun
0000003367 ?/. 1 g.943687G>C - - chr1_000185 - - - Germline - - - - - Yu Sun
0000011348 ?/. 1 g.943687G>C - - chr1_000185 - - - Germline - - - - - Yu Sun
0000011349 ?/. 1 g.943907C>G - - chr1_000187 - - - Germline - - - - - Yu Sun
0000061909 -/. 1 g.955597G>T - - AGRN_000026 - - rs115173026 Germline - - - 0 - Andreas Laner
0000088118 -/. 1 g.955619G>Y Val23Leu - AGRN_000002 - PubMed: Huze 2009 - Germline - 0.016 - 0 - Johan den Dunnen
0000088119 -/. 1 g.955724G>A Asp58Asn - AGRN_000003 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088120 -/. 1 g.957693A>T Asp105Ile - AGRN_000004 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000061910 -/. 1 g.957898G>T - - AGRN_000025 - - rs2799064 Germline - - - 0 - Andreas Laner
0000088121 -/. 1 g.976625C>T Thr267Met - AGRN_000005 - PubMed: Huze 2009 - Germline - 0.02 - 0 - Johan den Dunnen
0000088122 -/. 1 g.977028G>T Ala375Ser - AGRN_000006 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088123 -/. 1 g.979748A>T Glu728Val - AGRN_000007 - PubMed: Huze 2009 - Germline - 0.021 - 0 - Johan den Dunnen
0000088124 -/. 1 g.981131A>G Gln852Arg - AGRN_000008 - PubMed: Huze 2009 rs9697293 Germline - 0.005 - 0 - Johan den Dunnen
0000088125 -/. 1 g.981815G>A Val984Met - AGRN_000009 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088126 -/. 1 g.982213G>Y Leu1088Phe - AGRN_000010 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088127 -/. 1 g.982302C>A Thr1118Lys - AGRN_000011 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088128 -/. 1 g.982722A>G Gln1135Arg - AGRN_000012 - PubMed: Huze 2009 - Germline - 0.016 - 0 - Johan den Dunnen
0000088129 -/. 1 g.983243C>T Pro1240Leu - AGRN_000013 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088130 -/. 1 g.983661G>M Gly1341Arg - AGRN_000014 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088131 -/. 1 g.984669C>T Pro1451Leu) - AGRN_000015 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088132 -/. 1 g.984971G>A Ala1513Thr - AGRN_000016 - PubMed: Huze 2009 - Germline - 0.016 - 0 - Johan den Dunnen
0000088133 -/. 1 g.985126G>Y Gln1565His - AGRN_000017 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088134 -/. 1 g.985826G>A Val1666Ile - AGRN_000018 - PubMed: Huze 2009 rs17160775 Germline - 0.02 - 0 - Johan den Dunnen
0000088135 -/. 1 g.985842G>A Arg1671Gln - AGRN_000019 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088136 -/. 1 g.985923G>C Arg1698Pro - AGRN_000020 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088137 +/. 1 g.985955G>C 5125G>C - AGRN_000001 not in 200 control chromosomes; no variant in CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A, MUSK, DOK7 PubMed: Huze 2009, OMIM:var0001 - Germline - - - 0 - Johan den Dunnen
0000088138 +/. 1 g.985955G>C 5125G>C - AGRN_000001 not in 200 control chromosomes; no variant in CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A, MUSK, DOK7 PubMed: Huze 2009, OMIM:var0001 - Germline - - - 0 - Johan den Dunnen
0000088139 -/. 1 g.985955G>C - - AGRN_000021 not in 200 control chromosomes PubMed: Huze 2009 - Germline - - - 0 - Johan den Dunnen
0000088159 +/. 1 g.985955G>C 5125G>C - AGRN_000001 not in 200 control chromosomes; no variant in CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A, MUSK, DOK7 PubMed: Huze 2009, OMIM:var0001 - Germline - - - 0 - Johan den Dunnen
0000088160 +/. 1 g.985955G>C 5125G>C - AGRN_000001 not in 200 control chromosomes; no variant in CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A, MUSK, DOK7 PubMed: Huze 2009, OMIM:var0001 - Germline - - - 0 - Johan den Dunnen
0000088163 -?/. 1 g.985955G>C - - AGRN_000001 pCEP-Pu mini-AGRN expression cloning C2C12 cells normal AChR clustering PubMed: Huze 2009, OMIM:var0001 - Germline - - - 0 - Johan den Dunnen
0000088164 -?/. 1 g.985955G>C - - AGRN_000001 pCEP-Pu mini-AGRN co-expression cloningMUSK T293 cells normal MuSK phosphorylation PubMed: Huze 2009, OMIM:var0001 - Germline - - - 0 - Johan den Dunnen
0000088165 +/. 1 g.985955G>C - - AGRN_000001 pCEP-Pu mini-AGRN injection rat muscle dramatically perturbs maintenance neuromuscular junction (remodels and fragments pre-existing NMJs) PubMed: Huze 2009, OMIM:var0001 - Germline - - - 0 - Johan den Dunnen
0000088140 -/. 1 g.986165G>A Arg1734His - AGRN_000022 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000128826 +?/. 1 g.986681G>C - - AGRN_000027 novel homozygous missense variant, not found in online datasets - - Germline - - - 0 - Ying Zhang
0000088141 -/. 1 g.986732G>A Asp1785Asn - AGRN_000023 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000088142 -/. 1 g.990291G>T Gly2023Val - AGRN_000024 - PubMed: Huze 2009 - Germline - 0.01 - 0 - Johan den Dunnen
0000132489 +?/. 1 g.1167840T>C - - B3GALT6_000001 - - - Germline yes - - 0 - Cynthia Silveira
0000132490 +/. 1 g.1168246dupG - - B3GALT6_000002 - - - Germline - - - 0 - Cynthia Silveira
0000003368 ?/. 1 g.1269554T>C - - TAS1R3_000001 - - - Germline - - - - - Yu Sun
0000096542 +/. 1 g.1718817C>T - - GNB1_000006 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096541 +/. 1 g.1735987T>C - - GNB1_000005 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096544 +/. 1 g.1735987T>C - - GNB1_000005 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096550 +/. 1 g.1736004A>G - - GNB1_000009 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096540 +/. 1 g.1737942A>G - - GNB1_000004 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096546 +/. 1 g.1737942A>G - - GNB1_000004 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096547 +/. 1 g.1737942A>G - - GNB1_000004 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096539 +/. 1 g.1737942A>T - - GNB1_000003 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096548 +/. 1 g.1737942A>T - - GNB1_000003 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096538 +/. 1 g.1737948T>C - - GNB1_000002 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096545 +/. 1 g.1737952C>T - - GNB1_000008 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096543 +/. 1 g.1737953A>C - - GNB1_000007 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000096537 +/. 1 g.1737954T>C - - GNB1_000001 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - De novo - 1/5855 cases - 0 - Johan den Dunnen
0000003369 ?/. 1 g.1898938G>A - - KIAA1751_000001 - - - Germline - - - - - Yu Sun
0000063074 -/. 1 g.1956362G>A - - GABRD_000008 - - rs2376805 Germline - - - 0 - Andreas Laner
0000063075 -/. 1 g.1957037T>C - - GABRD_000007 - - rs2229110 Germline - - - 0 - Andreas Laner
0000063077 -/. 1 g.1957222del - - GABRD_000005 - - - Germline - - - 0 - Andreas Laner
0000063081 +/. 1 g.1959699G>A - - GABRD_000006 - - - Germline - - - 0 - Andreas Laner
0000063079 -/. 1 g.1960674C>T - - GABRD_000001 - - rs28408173 Germline - - - 0 - Andreas Laner
0000063076 -/. 1 g.1960926T>C - - GABRD_000002 - - rs28581504 Germline - - - 0 - Andreas Laner
0000063078 +/. 1 g.1961147C>T - - GABRD_000003 - - - Germline - - - 0 - Andreas Laner
0000063080 -/. 1 g.1961408C>T - - GABRD_000004 - - rs28431879 Germline - - - 0 - Andreas Laner
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