Unique variants in gene ABCA12

Information The variants shown are described using the NM_173076.2 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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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 2 c.110dupT - r.(?) p.(Ile38Hisfs*27) g.215976373dup g.215111650dupA 107insT - ABCA12_000026 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.164-11300A>G benign r.(=) p.(=) g.215940242T>C - ABCA12(NM_173076.2):c.164-11300A>G - ABCA12_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.178C>T pathogenic r.(?) p.(Arg60*) g.215928928G>A - ABCA12(NM_173076.2):c.178C>T (p.Arg60*) - ABCA12_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 6 c.529delT - r.(?) p.(Ser177Glnfs*26) g.215914514delA g.215049790delA - - ABCA12_000020 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-?/. 1 - c.535G>A likely benign r.(?) p.(Asp179Asn) g.215914508C>T - ABCA12(NM_173076.2):c.535G>A (p.(Asp179Asn)) - chr2_013016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 6 c.596G>A - r.(?) p.(Trp199*) g.215914447C>T g.215049723C>T - - ABCA12_000019 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 6 c.682C>T - r.(?) p.(Gln228*) g.215914361G>A g.215049637G>A - - ABCA12_000018 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 3 7 c.859C>T pathogenic r.(?) p.(Arg287*) g.215910574G>A g.215045850G>A ABCA12(NM_173076.2):c.859C>T (p.Arg287*) - ABCA12_000036 VKGL data sharing initiative Nederland PubMed: Castiglia 2009 - - CLASSIFICATION record, Germline, Uniparental disomy, paternal allele yes - - - - VKGL-NL, Marianne Vos (LOVD-team)
+/. 1 7i_8i c.(872+1_873-1)_(985+1_986-1)del - r.(del) p.? g.(215896621_215901676)_(215901790215910560)del - del exon 8 - ABCA12_000007 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 2 8 c.888G>A benign r.(?) p.(=) g.215901774C>T g.215037050C>T V296V, ABCA12(NM_173076.2):c.888G>A (p.=) - ABCA12_000008 VKGL data sharing initiative Nederland PubMed: Kelsell 2005 - - Germline, CLASSIFICATION record yes - - - - Marianne Vos (LOVD-team), VKGL-NL
-/. 1 8i c.985+85T>C - r.(=) p.(=) g.215901592A>G g.215036868A>G - - ABCA12_000009 - PubMed: Kelsell 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 9 c.1033A>C - r.(?) p.(Thr345Pro) g.215896573T>G g.215031849T>G - - ABCA12_000037 - PubMed: Natsuga 2007 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 9 c.1060C>T - r.(?) p.(Gln354*) g.215896546G>A g.215031822G>A - - ABCA12_000022 unknown variant 2nd chromosome PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 10 c.1131C>G - r.(?) p.(Tyr377*) g.215891593G>C g.215026869G>C - - ABCA12_000025 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 10 c.1160G>A - r.(?) p.(Ser387Asn) g.215891564C>T g.215026840C>T - - ABCA12_000039 - PubMed: Akiyama 2006 - - De novo yes - - - - Marianne Vos (LOVD-team)
+/. 1 12 c.1300C>T - r.(?) p.(Arg434*) g.215884508G>A g.215019784G>A - - ABCA12_000044 - PubMed: Akiyama 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 15 c.1803G>A - r.(?) p.(Trp601*) g.215880367C>T g.215015643C>T - - ABCA12_000032 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+?/. 1 - c.1866del ACMG: 4 r.(?) p.(Cys622*) g.215880304del g.215015580del - - ABCA12_000058 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
-/. 1 - c.1923G>C benign r.(?) p.(=) g.215880247C>G - ABCA12(NM_173076.2):c.1923G>C (p.L641=) - ABCA12_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 16 c.2021_2022del - r.(?) p.(Lys674Argfs*49) g.215876794_215876795del g.215012070_215012071del 2021_2022delAA - ABCA12_000043 - PubMed: Akiyama 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 2 16 c.2025delG - r.(?) p.(Ile676Phefs*13) g.215876791delC g.215012067delC - - ABCA12_000024 unknown variant 2nd chromosome PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.2124A>G benign r.(?) p.(=) g.215876371T>C - ABCA12(NM_173076.2):c.2124A>G (p.= (p.Ala708Ala)) - ABCA12_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 17 c.2140C>T - r.(?) p.(Arg714*) g.215876355G>A g.215011631G>A - - ABCA12_000016 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 17 c.2273dupT - r.(?) p.(Leu758Phefs*4) g.215876222dup g.215011498dupA 2274insT - ABCA12_000023 unknown variant 2nd chromosome PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/., -?/. 2 - c.2329T>A benign, likely benign r.(?) p.(Ser777Thr) g.215876166A>T - ABCA12(NM_173076.2):c.2329T>A (p.S777T) - ABCA12_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.2538G>A likely benign r.(?) p.(=) g.215872505C>T - ABCA12(NM_173076.2):c.2538G>A (p.=) - ABCA12_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3033A>G benign r.(?) p.(=) g.215865575T>C - ABCA12(NM_173076.2):c.3033A>G (p.=) - ABCA12_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3180-6T>G VUS r.(=) p.(=) g.215862539A>C - ABCA12(NM_173076.2):c.3180-6T>G - ABCA12_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 22i_23i c.(3179+1_3180-1)_(3294+1_3295-1)del - r.(del) p.? g.(215855756_215862418)_(215862534_15865428)del - del exon 23 - ABCA12_000001 - PubMed: Kelsell 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 2 23 c.3270T>G - r.(?) p.(Tyr1090*) g.215862443A>C g.214997719A>C - - ABCA12_000033 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 2 23i c.3295-2A>G - r.[3295_3303del; 3295_3464del], r.spl p.[Tyr1099_Lys1101del; Tyr1099Leufs*44], p.? g.215855757T>C g.214991033T>C IVS23-2A>G - ABCA12_000041 - PubMed: Akiyama 2005 - - Germline yes - - - - Johan den Dunnen, Marianne Vos (LOVD-team)
+/. 1 24 c.3407G>A - r.(?) p.(Gly1136Asp) g.215855643C>T g.214990919C>T - - ABCA12_000045 - PubMed: Akiyama 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 24 c.3535G>A - r.(?) p.(Gly1179Arg) g.215855515C>T g.214990791C>T - - ABCA12_000017 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+?/. 1 - c.3666C>A ACMG: 4 r.(?) p.(Tyr1222*) g.215854304G>T g.214989580G>T - - ABCA12_000059 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
+/. 1 25 c.3673C>T - r.(?) p.(Arg1225*) g.215854297G>A g.214989573G>A - - ABCA12_000034 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 26 c.3704G>C - r.(?) p.(Trp1235Ser) g.215854178C>G g.214989454C>G Trp1235Ser - ABCA12_000050 - PubMed: Sakai 2009 - - Germline ? - - - - Marianne Vos (LOVD-team)
-/. 1 - c.3726G>A benign r.(?) p.(=) g.215854156C>T - ABCA12(NM_173076.2):c.3726G>A (p.= (p.Pro1242Pro)) - ABCA12_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 26 c.3746C>A - r.(?) p.(Ser1249*) g.215854136G>T g.214989412G>T Ser1249Term - ABCA12_000014 - PubMed: Thomas 2006, PubMed: Akiyama 2007 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 26i c.3829+1G>A - r.(?) p.? g.215854052C>T g.214989328C>T - - ABCA12_000027 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 27 c.3882G>A - r.(?) p.(Trp1294*) g.215560710C>T - 4102G>A (W1293*) - ABCA12_000049 - PubMed: Rajpar 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 27 c.3891G>A - r.(?) p.(Arg1297*) g.215852456C>T g.214987732C>T - - ABCA12_000015 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 27i_53i c.(3976+1_3977-1)_(*1_?)del - r.(del) p.? g.(?_215797357)_(215851453_215852370)del - del exon 28-53 - ABCA12_000004 - PubMed: Kelsell 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.4126T>C benign r.(?) p.(=) g.215851303A>G - ABCA12(NM_173076.2):c.4126T>C (p.= (p.Leu1376Leu)) - ABCA12_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 6 28 c.4139A>G pathogenic r.(?) p.(Asn1380Ser) g.215851290T>C g.214986566T>C ABCA12(NM_173076.2):c.4139A>G (p.Asn1380Ser) - ABCA12_000055 VKGL data sharing initiative Nederland PubMed: Lefevre 2003 - - Germline, CLASSIFICATION record yes - - - - Marianne Vos (LOVD-team), VKGL-NL
+/. 1 28 c.4142G>A - r.(?) p.(Gly1381Glu) g.215851287C>T g.214986563C>T - - ABCA12_000053 - PubMed: Lefevre 2003 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 2 28 c.4158_4160del - r.(?) p.(Thr1387del) g.215851269_215851271del g.214986545_214986547del 4158_4160delTAC - ABCA12_000040 - PubMed: Akiyama 2006, PubMed: Akiyama 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.4163+20T>C benign r.(=) p.(=) g.215851246A>G - ABCA12(NM_173076.2):c.4163+20T>C - ABCA12_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.4225A>G benign r.(?) p.(Ile1409Val) g.215848528T>C - ABCA12(NM_173076.2):c.4225A>G (p.Ile1409Val) - ABCA12_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 29 c.4262delG - r.(?) p.(Gly1421Glufs*39) g.215848491delC g.214983767delC - - ABCA12_000029 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 30 c.4481T>C - r.(?) p.(Ile1494Thr) g.215847009A>G g.214982285A>G - - ABCA12_000038 no variant found 2nd chromosome PubMed: Natsuga 2007 - - Germline yes - - - - Marianne Vos (LOVD-team)
+?/. 1 - c.4538C>G likely pathogenic r.(?) p.(Ser1513Cys) g.215846952G>C - ABCA12(NM_173076.2):c.4538C>G (p.(Ser1513Cys)) - ABCA12_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 30 c.4541G>A - r.(?) p.(Arg1514His) g.215846949C>T g.214982225C>T Arg1514His - ABCA12_000052 no variant found 2nd chromosome PubMed: Lefevre 2003, PubMed: Sakai 2009 - - Germline yes, ? - - - - Marianne Vos (LOVD-team)
+/. 1 31 c.4615G>A - r.(?) p.(Glu1539Lys) g.215845332C>T g.214980608C>T - - ABCA12_000057 - PubMed: Lefevre 2003 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.4941C>T benign r.(?) p.(=) g.215843564G>A - ABCA12(NM_173076.2):c.4941C>T (p.I1647=) - ABCA12_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 32 c.4951G>A - r.(?) p.(Gly1651Ser), p.(Glu1651Ser) g.215843554C>T g.214978830C>T 4851G>A - ABCA12_000056 - PubMed: Lefevre 2003 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 33 c.5005C>T - r.(?) p.(Gln1669*) g.215843163G>A g.214978439G>A - - ABCA12_000046 - PubMed: Akiyama 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 33 c.5012delA - r.(?) p.(Asn1671Ilefs*4) g.215843156delT g.214978432delT 5229delA - ABCA12_000005 - PubMed: Kelsell 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 33_33i c.5126_5128+1del - r.spl p.? g.215843039_215843042del g.214978315_214978318del 5125_5128delGATG - ABCA12_000028 no variant found 2nd chromosome PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 2 34 c.5231G>A - r.(?) p.(Trp1744*) g.215840659C>T g.214975935C>T - - ABCA12_000012 - PubMed: Kelsell 2005, PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 34i c.5381+3_5381+4del - r.(spl?) p.? g.215840505_215840506del g.214975781_214975782del 5381+3delAA - ABCA12_000035 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 35 c.5393C>T - r.(?) p.(Pro1798Leu) g.215839577G>A g.214974853G>A Pro1798Leu - ABCA12_000047 unknown variant found 2nd chromosome PubMed: Sakai 2009 - - Germline ? - - - - Marianne Vos (LOVD-team)
-/. 1 - c.5617G>A benign r.(?) p.(Val1873Ile) g.215835070C>T - ABCA12(NM_173076.2):c.5617G>A (p.V1873I) - ABCA12_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 37 c.5641C>T - r.(?) p.(Arg1881*) g.215835046G>A g.214970322G>A - - ABCA12_000021 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 37 c.5690G>C - r.(spl?) p.? g.215834997C>G g.214970273C>G - - ABCA12_000031 no variant found 2nd chromosome PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 2 39 c.5848C>T - r.(?) p.(Arg1950*) g.215831608G>A g.214966884G>A Arg1950X - ABCA12_000042 - PubMed: Akiyama 2005, PubMed: Sakai 2009 - - Germline yes, ? - - - - Marianne Vos (LOVD-team)
+/. 1 40 c.5939C>A - r.(?) p.(Thr1980Lys) g.215823748G>T g.214959024G>T Thr1980Lys - ABCA12_000048 unknown variant found 2nd chromosome PubMed: Sakai 2009 - - Germline ? - - - - Marianne Vos (LOVD-team)
+?/., ?/. 2 - c.6091T>G likely pathogenic, VUS r.(?) p.(Trp2031Gly) g.215823027A>C - ABCA12(NM_173076.2):c.6091T>G (p.W2031G) - ABCA12_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 42 c.6161_6162del - r.(?) p.(Ala2054Aspfs*10) g.(215821458_215797357)_(215851453215821459)del g.214956734_214956735del 6378delGC - ABCA12_000003 - PubMed: Kelsell 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 42i c.6233+1G>T - r.(spl?) p.? g.215821386C>A g.214956662C>A - - ABCA12_000011 - PubMed: Kelsell 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.6306C>T benign r.(?) p.(=) g.215820013G>A - ABCA12(NM_173076.2):c.6306C>T (p.= (p.Tyr2102Tyr)) - ABCA12_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 44 c.6443_6445del - r.(?) p.(Pro2141del) g.215818780_215818782del g.214954056_214954058del - - ABCA12_000030 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 44 c.6481C>T - r.(?) p.(Gln2161*) g.215818744G>A g.214954020G>A - - ABCA12_000013 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 2 44 c.6610C>T pathogenic r.(?) p.(Arg2204*) g.215818615G>A g.214953891G>A ABCA12(NM_173076.2):c.6610C>T (p.(Arg2204*)), R2203* - ABCA12_000010 VKGL data sharing initiative Nederland PubMed: Kelsell 2005 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL, Marianne Vos (LOVD-team)
+/., -?/. 2 47 c.7093G>A likely benign r.(?) p.(Asp2365Asn) g.215813331C>T g.214948607C>T ABCA12(NM_173076.2):c.7093G>A (p.Asp2365Asn) - ABCA12_000006 VKGL data sharing initiative Nederland PubMed: Kelsell 2005 - - Germline, CLASSIFICATION record yes - - - - Marianne Vos (LOVD-team), VKGL-NL
-/. 1 - c.7105-17C>T benign r.(=) p.(=) g.215812297G>A - ABCA12(NM_173076.2):c.7105-17C>T (p.?) - ABCA12_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.7240-23_7240-20dup likely benign r.(=) p.(=) g.215809849_215809852dup - ABCA12(NM_173076.2):c.7240-23_7240-20dupTTTT - chr2_013015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 8 49 c.7323delC - r.(?) p.(Val2442Serfs*22) g.215809745delG g.214945021delG 7541delC - ABCA12_000002 variant identified through parent PubMed: Kelsell 2005, PubMed: Thomas 2006, PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 50 c.7436G>A - r.[7374_7436del; 7344_7436del; 7436g>a; 7387_7436del; 7433_7436del] p.[Leu2459_Arg2479del; Ser2448_Ser2478del; Arg2479Lys; Val2463fs*; Ser2478fs*] g.215807649C>T g.214942925C>T - - ABCA12_000054 - PubMed: Akiyama 2007 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 51 c.7444C>T - r.(?) p.(Arg2482*) g.215802332G>A g.214937608G>A Arg2482X - ABCA12_000051 unknown variant found 2nd chromosome PubMed: Sakai 2009 - - Germline ? - - - - Marianne Vos (LOVD-team)
-?/. 1 - c.7631C>T likely benign r.(?) p.(Thr2544Ile) g.215798851G>A - ABCA12(NM_173076.2):c.7631C>T (p.Thr2544Ile) - ABCA12_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*26G>A benign r.(=) p.(=) g.215797332C>T - ABCA12(NM_173076.2):c.*26G>A (p.?) - ABCA12_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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