Unique variants in the ABCA12 gene

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

98 entries on 1 page. Showing entries 1 - 98.
Legend   How to query  

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 2 c.110dup r.(?) p.(Ile38Hisfs*27) - pathogenic g.215976376dup g.215111653dup 107insT - ABCA12_000026 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.164-11300A>G r.(=) p.(=) - benign g.215940242T>C g.215075519T>C ABCA12(NM_173076.3):c.164-11300A>G - ABCA12_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.172G>A r.(?) p.(Ala58Thr) - VUS g.215928934C>T - ABCA12(NM_173076.3):c.172G>A (p.A58T) - ABCA12_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.178C>T r.(?) p.(Arg60Ter) - pathogenic g.215928928G>A g.215064205G>A - - ABCA12_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.510G>A r.(?) p.(Leu170=) - likely benign g.215914533C>T - ABCA12(NM_173076.2):c.510G>A (p.L170=) - ABCA12_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.529del r.(?) p.(Ser177Glnfs*26) - pathogenic g.215914515del g.215049791del - - ABCA12_000020 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-?/. 1 - c.535G>A r.(?) p.(Asp179Asn) - likely benign g.215914508C>T g.215049784C>T ABCA12(NM_173076.2):c.535G>A (p.(Asp179Asn)) - ABCA12_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 6 c.596G>A r.(?) p.(Trp199*) - pathogenic 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*) - pathogenic g.215914361G>A g.215049637G>A - - ABCA12_000018 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.709A>C r.(?) p.(Asn237His) - benign g.215910724T>G g.215046000T>G - - ABCA12_000089 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11890512 Germline - 5/2794 individuals - - - Mohammed Faruq
+/. 3 7 c.859C>T r.(?) p.(Arg287*), p.(Arg287Ter) - pathogenic g.215910574G>A g.215045850G>A - - ABCA12_000036 VKGL data sharing initiative Nederland PubMed: Castiglia 2009 - - CLASSIFICATION record, Germline, Uniparental disomy, paternal allele yes - - - - Marianne Vos (LOVD-team), VKGL-NL_Nijmegen
+/. 1 7i_8i c.(872+1_873-1)_(985+1_986-1)del r.(del) p.? - pathogenic g.(215896621_215901676)_(215901790215910560)del - del exon 8 - ABCA12_000007 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 2 8 c.888G>A r.(?) p.(=), p.(Val296=) - benign g.215901774C>T g.215037050C>T V296V - ABCA12_000008 VKGL data sharing initiative Nederland PubMed: Kelsell 2005 - - CLASSIFICATION record, Germline yes - - - - Marianne Vos (LOVD-team), VKGL-NL_Nijmegen
-/. 1 8i c.985+85T>C r.(=) p.(=) - benign 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) - pathogenic 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*) - pathogenic 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*) - pathogenic 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) - pathogenic g.215891564C>T g.215026840C>T - - ABCA12_000039 - PubMed: Akiyama 2006 - - De novo yes - - - - Marianne Vos (LOVD-team)
?/. 1 - c.1235A>G r.(?) p.(Asn412Ser) - VUS g.215890449T>C - ABCA12(NM_173076.2):c.1235A>G (p.N412S) - ABCA12_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 12 c.1300C>T r.(?) p.(Arg434*) - pathogenic g.215884508G>A g.215019784G>A - - ABCA12_000044 - PubMed: Akiyama 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
-?/. 1 - c.1607T>C r.(?) p.(Ile536Thr) - likely benign g.215884110A>G g.215019386A>G ABCA12(NM_015657.3):c.653T>C (p.(Ile218Thr)) - ABCA12_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1625T>C r.(?) p.(Val542Ala) - VUS g.215884092A>G g.215019368A>G - - ABCA12_000087 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114651183 Germline - 6/2794 individuals - - - Mohammed Faruq
+/. 1 15 c.1803G>A r.(?) p.(Trp601*) - pathogenic g.215880367C>T g.215015643C>T - - ABCA12_000032 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+?/. 1 - c.1866del r.(?) p.(Cys622*) ACMG likely pathogenic g.215880304del g.215015580del - - ABCA12_000058 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
?/. 1 - c.1889C>A r.(?) p.(Ser630Tyr) - VUS g.215880281G>T - ABCA12(NM_173076.2):c.1889C>A (p.S630Y) - ABCA12_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1923G>C r.(?) p.(Leu641=) - benign g.215880247C>G g.215015523C>G ABCA12(NM_173076.3):c.1923G>C (p.L641=) - ABCA12_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 16 c.2021_2022del r.(?) p.(Lys674Argfs*49) - pathogenic g.215876796_215876797del g.215012072_215012073del 2021_2022delAA - ABCA12_000043 - PubMed: Akiyama 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 2 16 c.2025del r.(?) p.(Ile676Phefs*13) - pathogenic g.215876791del g.215012067del - - ABCA12_000024 unknown variant 2nd chromosome PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.2124A>G r.(?) p.(Ala708=) - benign g.215876371T>C g.215011647T>C - - ABCA12_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 17 c.2140C>T r.(?) p.(Arg714*) - pathogenic g.215876355G>A g.215011631G>A - - ABCA12_000016 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 17 c.2273dup r.(?) p.(Leu758Phefs*4) - pathogenic g.215876227dup g.215011503dup 2274insT - ABCA12_000023 unknown variant 2nd chromosome PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/., -?/. 2 - c.2329T>A r.(?) p.(Ser777Thr) - benign, likely benign g.215876166A>T g.215011442A>T ABCA12(NM_173076.3):c.2329T>A (p.S777T) - ABCA12_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.2452A>G r.(?) p.(Thr818Ala) - VUS g.215875075T>C g.215010351T>C ABCA12(NM_173076.2):c.2452A>G (p.T818A) - ABCA12_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2538G>A r.(?) p.(Ser846=) - likely benign g.215872505C>T g.215007781C>T - - ABCA12_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.3033A>G r.(?) p.(Pro1011=) - benign g.215865575T>C g.215000851T>C - - ABCA12_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3180-6T>G r.(=) p.(=) - VUS g.215862539A>C g.214997815A>C - - ABCA12_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 22i_23i c.(3179+1_3180-1)_(3294+1_3295-1)del r.(del) p.? - pathogenic 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*) - pathogenic g.215862443A>C g.214997719A>C - - ABCA12_000033 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
-?/. 1 - c.3276A>G r.(?) p.(Lys1092=) - likely benign g.215862437T>C - ABCA12(NM_173076.2):c.3276A>G (p.K1092=) - ABCA12_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 23i c.3295-2A>G r.spl, r.[3295_3303del; 3295_3464del] p.?, p.[Tyr1099_Lys1101del; Tyr1099Leufs*44] - pathogenic 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) - pathogenic 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) - pathogenic g.215855515C>T g.214990791C>T - - ABCA12_000017 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 - c.3539G>C r.(?) p.(Ser1180Thr) - pathogenic (dominant) g.215855511C>G - G3539C - ABCA12_000098 - PubMed: Cao 2020 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.3666C>A r.(?) p.(Tyr1222*) ACMG likely pathogenic g.215854304G>T g.214989580G>T - - ABCA12_000059 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/. 1 25 c.3673C>T r.(?) p.(Arg1225*) - pathogenic 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) - pathogenic g.215854178C>G g.214989454C>G Trp1235Ser - ABCA12_000050 - PubMed: Sakai 2009 - - Germline ? - - - - Marianne Vos (LOVD-team)
-/. 1 - c.3726G>A r.(?) p.(Pro1242=) - benign g.215854156C>T g.214989432C>T - - ABCA12_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 26 c.3746C>A r.(?) p.(Ser1249*) - pathogenic g.215854136G>T g.214989412G>T Ser1249Term - ABCA12_000014 - PubMed: Akiyama 2007, PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 26i c.3829+1G>A r.(?) p.? - pathogenic 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*) - pathogenic g.215560710C>T g.214695986C>T 4102G>A (W1293*) - ABCA12_000049 - PubMed: Rajpar 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 27 c.3891G>A r.(?) p.(Arg1297*) - pathogenic g.215852456C>T g.214987732C>T - - ABCA12_000015 1 more item PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 27i_53i c.(3976+1_3977-1)_(*1_?)del r.(del) p.? - pathogenic g.(?_215797357)_(215851453_215852370)del - del exon 28-53 - ABCA12_000004 - PubMed: Kelsell 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.4126T>C r.(?) p.(Leu1376=) - benign g.215851303A>G g.214986579A>G - - ABCA12_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 7 28 c.4139A>G r.(?) p.(Asn1380Ser) - likely pathogenic, pathogenic g.215851290T>C g.214986566T>C ABCA12(NM_173076.2):c.4139A>G (p.N1380S) - ABCA12_000055 VKGL data sharing initiative Nederland PubMed: Lefevre 2003 - - CLASSIFICATION record, Germline yes - - - - Marianne Vos (LOVD-team), VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 28 c.4142G>A r.(?) p.(Gly1381Glu) - pathogenic 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) - pathogenic g.215851274_215851276del g.214986550_214986552del 4158_4160delTAC - ABCA12_000040 - PubMed: Akiyama 2005, PubMed: Akiyama 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.4163+20T>C r.(=) p.(=) - benign g.215851246A>G g.214986522A>G ABCA12(NM_173076.3):c.4163+20T>C - ABCA12_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.4225A>G r.(?) p.(Ile1409Val) - benign g.215848528T>C g.214983804T>C - - ABCA12_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 29 c.4262del r.(?) p.(Gly1421Glufs*39) - pathogenic g.215848493del g.214983769del - - ABCA12_000029 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 30 c.4481T>C r.(?) p.(Ile1494Thr) - pathogenic 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 r.(?) p.(Ser1513Cys) - likely pathogenic g.215846952G>C g.214982228G>C - - ABCA12_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 30 c.4541G>A r.(?) p.(Arg1514His) - pathogenic 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 - c.4593T>G r.(?) p.(Ile1531Met) - VUS g.215845354A>C - ABCA12(NM_173076.3):c.4593T>G (p.I1531M) - ABCA12_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 31 c.4615G>A r.(?) p.(Glu1539Lys) - pathogenic g.215845332C>T g.214980608C>T - - ABCA12_000057 - PubMed: Lefevre 2003 - - Germline yes - - - - Marianne Vos (LOVD-team)
-?/. 1 - c.4707C>T r.(?) p.(Gly1569=) - likely benign g.215845240G>A - ABCA12(NM_173076.2):c.4707C>T (p.G1569=) - ABCA12_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.4941C>T r.(?) p.(Ile1647=) - benign g.215843564G>A g.214978840G>A ABCA12(NM_173076.2):c.4941C>T (p.I1647=) - ABCA12_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 32 c.4951G>A r.(?) p.(Glu1651Ser), p.(Gly1651Ser) - pathogenic 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*) - pathogenic g.215843163G>A g.214978439G>A - - ABCA12_000046 - PubMed: Akiyama 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 33 c.5012del r.(?) p.(Asn1671Ilefs*4) - pathogenic g.215843162del g.214978438del 5229delA - ABCA12_000005 - PubMed: Kelsell 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 33_33i c.5126_5128+1del r.spl p.? - pathogenic g.215843040_215843043del g.214978316_214978319del 5125_5128delGATG - ABCA12_000028 no variant found 2nd chromosome PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
?/. 1 - c.5204A>G r.(?) p.(Lys1735Arg) - VUS g.215840686T>C - ABCA12(NM_173076.2):c.5204A>G (p.K1735R) - ABCA12_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 34 c.5231G>A r.(?) p.(Trp1744*) - pathogenic 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.? - pathogenic 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) - pathogenic 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 r.(?) p.(Val1873Ile) - benign g.215835070C>T g.214970346C>T ABCA12(NM_173076.2):c.5617G>A (p.V1873I) - ABCA12_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 37 c.5641C>T r.(?) p.(Arg1881*) - pathogenic 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.(Arg1897Thr) - pathogenic 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*) - pathogenic 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) - pathogenic 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 r.(?) p.(Trp2031Gly) - likely pathogenic, VUS g.215823027A>C g.214958303A>C ABCA12(NM_173076.3):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) - pathogenic 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.? - pathogenic g.215821386C>A g.214956662C>A - - ABCA12_000011 - PubMed: Kelsell 2005 - - Germline yes - - - - Marianne Vos (LOVD-team)
-/. 1 - c.6306C>T r.(?) p.(Tyr2102=) - benign g.215820013G>A g.214955289G>A - - ABCA12_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.6386A>G r.(?) p.(Asn2129Ser) - likely benign g.215819933T>C - ABCA12(NM_173076.2):c.6386A>G (p.N2129S) - ABCA12_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 44 c.6443_6445del r.(?) p.(Pro2141del) - pathogenic g.215818781_215818783del g.214954057_214954059del - - ABCA12_000030 - PubMed: Thomas 2008 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 1 44 c.6481C>T r.(?) p.(Gln2161*) - pathogenic g.215818744G>A g.214954020G>A - - ABCA12_000013 - PubMed: Thomas 2006 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 2 44 c.6610C>T r.(?) p.(Arg2204*), p.(Arg2204Ter) - pathogenic g.215818615G>A g.214953891G>A R2203* - ABCA12_000010 VKGL data sharing initiative Nederland PubMed: Kelsell 2005 - - CLASSIFICATION record, Germline yes - - - - Marianne Vos (LOVD-team), VKGL-NL_Nijmegen
+/., -?/. 3 47 c.7093G>A r.(?) p.(Asp2365Asn) - likely benign, pathogenic g.215813331C>T g.214948607C>T - - ABCA12_000006 1 homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Kelsell 2005, PubMed: Narang 2020, Journal: Narang 2020 - rs726070 CLASSIFICATION record, Germline yes 1/2794 individuals - - - Marianne Vos (LOVD-team), VKGL-NL_Nijmegen, Mohammed Faruq
-/. 1 - c.7105-17C>T r.(=) p.(=) - benign g.215812297G>A g.214947573G>A - - ABCA12_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.7240-23_7240-20dup r.(=) p.(=) - likely benign g.215809849_215809852dup g.214945125_214945128dup ABCA12(NM_173076.3):c.7240-23_7240-20dupTTTT - ABCA12_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 8 49 c.7323del r.(?) p.(Val2442Serfs*22) - pathogenic g.215809746del g.214945022del 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*] - pathogenic 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*) - pathogenic 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 r.(?) p.(Thr2544Ile) - likely benign g.215798851G>A g.214934127G>A - - ABCA12_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*26G>A r.(=) p.(=) - benign g.215797332C>T g.214932608C>T - - ABCA12_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*123035G>C r.(=) p.(=) - benign g.215674323C>G - BARD1(NM_000465.4):c.-30G>C - ABCA12_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. 3 - c.*123097G>T r.(=) p.(=) - likely benign g.215674261C>A - BARD1(NM_000465.2):c.33G>T (p.(Gln11His)), BARD1(NM_000465.4):c.33G>T (p.Q11H) - ABCA12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 1 - c.*123268A>C r.(=) p.(=) - benign g.215674090T>G - BARD1(NM_000465.4):c.158+46A>C - ABCA12_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
Legend   How to query