Full data view for gene ABCA12

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

122 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.110dup r.(?) p.(Ile38Hisfs*27) Both (homozygous) - pathogenic g.215976376dup g.215111653dup 107insT - ABCA12_000026 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - Canada Caucasian - 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.164-11300A>G r.(=) p.(=) Unknown - benign g.215940242T>C g.215075519T>C ABCA12(NM_173076.2):c.164-11300A>G - ABCA12_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.172G>A r.(?) p.(Ala58Thr) Unknown - - g.215928934C>T - ABCA12(NM_173076.2):c.172G>A (p.A58T) - ABCA12_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.178C>T r.(?) p.(Arg60Ter) Unknown - pathogenic g.215928928G>A g.215064205G>A - - ABCA12_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.529del r.(?) p.(Ser177Glnfs*26) Both (homozygous) - pathogenic g.215914515del g.215049791del - - ABCA12_000020 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - Switzerland Caucasian 2d 0 - - 1 Marianne Vos (LOVD-team)
-?/. - c.535G>A r.(?) p.(Asp179Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.596G>A r.(?) p.(Trp199*) Both (homozygous) - pathogenic g.215914447C>T g.215049723C>T - - ABCA12_000019 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - Ireland Caucasian 2m 0 - - 1 Marianne Vos (LOVD-team)
+/. 6 c.682C>T r.(?) p.(Gln228*) Both (homozygous) - pathogenic g.215914361G>A g.215049637G>A - - ABCA12_000018 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - ? (unknown) - 3d 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.709A>C r.(?) p.(Asn237His) Both (homozygous) - benign g.215910724T>G g.215046000T>G - - ABCA12_000089 5 homozygous; Clinindb (India) Faruq 2020, submtted - rs11890512 Germline - 5/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
+/. 7 c.859C>T r.(?) p.(Arg287*) Paternal (confirmed) - pathogenic g.215910574G>A g.215045850G>A - - ABCA12_000036 - PubMed: Castiglia 2009 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Castiglia 2009 - F - Italy - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 7 c.859C>T r.(?) p.(Arg287*) Paternal (confirmed) - pathogenic g.215910574G>A g.215045850G>A - - ABCA12_000036 - PubMed: Castiglia 2009 - - Uniparental disomy, paternal allele yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Castiglia 2009 - F - Italy - - 0 - - 1 Marianne Vos (LOVD-team)
+/. - c.859C>T r.(?) p.(Arg287Ter) Unknown - pathogenic g.215910574G>A g.215045850G>A - - ABCA12_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7i_8i c.(872+1_873-1)_(985+1_986-1)del r.(del) p.? Maternal (confirmed) - pathogenic g.(215896621_215901676)_(215901790215910560)del - del exon 8 - ABCA12_000007 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Caucasian >4y 0 - - 1 Marianne Vos (LOVD-team)
-/. 8 c.888G>A r.(?) p.(=) Paternal (confirmed) - benign g.215901774C>T g.215037050C>T V296V - ABCA12_000008 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Caucasian >4y 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.888G>A r.(?) p.(Val296=) Unknown - benign g.215901774C>T g.215037050C>T - - ABCA12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 8i c.985+85T>C r.(=) p.(=) Paternal (confirmed) - benign g.215901592A>G g.215036868A>G - - ABCA12_000009 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Caucasian >4y 0 - - 1 Marianne Vos (LOVD-team)
+/. 9 c.1033A>C r.(?) p.(Thr345Pro) Both (homozygous) - pathogenic g.215896573T>G g.215031849T>G - - ABCA12_000037 - PubMed: Natsuga 2007 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Natsuga 2007 - F - Japan - >37y 0 - - 1 Marianne Vos (LOVD-team)
+/. 9 c.1060C>T r.(?) p.(Gln354*) Parent #1 - pathogenic g.215896546G>A g.215031822G>A - - ABCA12_000022 unknown variant 2nd chromosome PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - Israel Jewish, Ashkenazi >03y06m 0 - - 1 Marianne Vos (LOVD-team)
+/. 10 c.1131C>G r.(?) p.(Tyr377*) Parent #1 - pathogenic g.215891593G>C g.215026869G>C - - ABCA12_000025 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - - Europe, North; Jewish, Ashkenazi >03y06m 0 - - 1 Marianne Vos (LOVD-team)
+/. 10 c.1160G>A r.(?) p.(Ser387Asn) Paternal (inferred) - pathogenic g.215891564C>T g.215026840C>T - - ABCA12_000039 - PubMed: Akiyama 2006 - - De novo yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Akiyama 2006 - M - Japan - >01y06m 0 - - 1 Marianne Vos (LOVD-team)
+/. 12 c.1300C>T r.(?) p.(Arg434*) Both (homozygous) - pathogenic g.215884508G>A g.215019784G>A - - ABCA12_000044 - PubMed: Akiyama 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Akiyama 2005 4-generation family, 1 affected, unaffected carrier parents F yes Japan - - 0 - - 1 Marianne Vos (LOVD-team)
-?/. - c.1607T>C r.(?) p.(Ile536Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1625T>C r.(?) p.(Val542Ala) Parent #1 - VUS g.215884092A>G g.215019368A>G - - ABCA12_000087 6 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs114651183 Germline - 6/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
+/. 15 c.1803G>A r.(?) p.(Trp601*) Both (homozygous) - pathogenic g.215880367C>T g.215015643C>T - - ABCA12_000032 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - - Arab, Middle East - 0 - - 1 Marianne Vos (LOVD-team)
+?/. - c.1866del r.(?) p.(Cys622*) Maternal (confirmed) ACMG likely pathogenic g.215880304del g.215015580del - - ABCA12_000058 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ARCI-4B - Trujillano et al., submitted unaffected heterozygous carrier mother - - - - - 0 - - 1 Daniel Trujillano
-/. - c.1923G>C r.(?) p.(Leu641=) Unknown - benign g.215880247C>G g.215015523C>G ABCA12(NM_173076.2):c.1923G>C (p.L641=) - ABCA12_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.2021_2022del r.(?) p.(Lys674Argfs*49) Parent #1 - pathogenic g.215876796_215876797del g.215012072_215012073del 2021_2022delAA - ABCA12_000043 - PubMed: Akiyama 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Akiyama 2005 2-generation family, 2 affecteds (child and fetus), unaffected carrier parents M no Japan - - 0 - - 2 Marianne Vos (LOVD-team)
+/. 16 c.2025del r.(?) p.(Ile676Phefs*13) Parent #1 - pathogenic g.215876791del g.215012067del - - ABCA12_000024 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - United Kingdom (Great Britain) Anglo-Saxon >16y 0 - - 1 Marianne Vos (LOVD-team)
+/. 16 c.2025del r.(?) p.(Ile676Phefs*13) Parent #1 - pathogenic g.215876791del g.215012067del - - ABCA12_000024 unknown variant 2nd chromosome PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - United Kingdom (Great Britain) Anglo-Saxon >01y06m 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.2124A>G r.(?) p.(Ala708=) Unknown - benign g.215876371T>C g.215011647T>C - - ABCA12_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 17 c.2140C>T r.(?) p.(Arg714*) Both (homozygous) - pathogenic g.215876355G>A g.215011631G>A - - ABCA12_000016 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - ? (unknown) - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 17 c.2273dup r.(?) p.(Leu758Phefs*4) Parent #1 - pathogenic g.215876227dup g.215011503dup 2274insT - ABCA12_000023 unknown variant 2nd chromosome PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - United States Caucasian >12y 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.2329T>A r.(?) p.(Ser777Thr) Unknown - benign g.215876166A>T g.215011442A>T ABCA12(NM_173076.2):c.2329T>A (p.S777T) - ABCA12_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2329T>A r.(?) p.(Ser777Thr) Unknown - likely benign g.215876166A>T g.215011442A>T ABCA12(NM_173076.2):c.2329T>A (p.S777T) - ABCA12_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2452A>G r.(?) p.(Thr818Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2538G>A r.(?) p.(Ser846=) Unknown - likely benign g.215872505C>T g.215007781C>T - - ABCA12_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3033A>G r.(?) p.(Pro1011=) Unknown - benign g.215865575T>C g.215000851T>C - - ABCA12_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3180-6T>G r.(=) p.(=) Unknown - VUS g.215862539A>C g.214997815A>C - - ABCA12_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 22i_23i c.(3179+1_3180-1)_(3294+1_3295-1)del r.(del) p.? Both (homozygous) - pathogenic g.(215855756_215862418)_(215862534_15865428)del - del exon 23 - ABCA12_000001 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Bangladesh >2y 0 - - 1 Marianne Vos (LOVD-team)
+/. 23 c.3270T>G r.(?) p.(Tyr1090*) Parent #1 - pathogenic g.215862443A>C g.214997719A>C - - ABCA12_000033 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - - Scandinavia, Bosnian - 0 - - 1 Marianne Vos (LOVD-team)
+/. 23 c.3270T>G r.(?) p.(Tyr1090*) Both (homozygous) - pathogenic g.215862443A>C g.214997719A>C - - ABCA12_000033 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - Albania - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 23i c.3295-2A>G r.[3295_3303del; 3295_3464del] p.[Tyr1099_Lys1101del; Tyr1099Leufs*44] Both (homozygous) - pathogenic g.215855757T>C g.214991033T>C IVS23-2A>G - ABCA12_000041 - PubMed: Akiyama 2005 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ ? - ARCI-4A - PubMed: Akiyama 2005 4-generation family, 1 affected, unaffected carrier parents M yes Japan - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 23i c.3295-2A>G r.spl p.? Parent #1 - pathogenic g.215855757T>C g.214991033T>C IVS23-2A>G - ABCA12_000041 - PubMed: Akiyama 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Akiyama 2005 2-generation family, 1 affected, unaffected carrier parents M no Japan - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 24 c.3407G>A r.(?) p.(Gly1136Asp) Paternal (confirmed) - pathogenic g.215855643C>T g.214990919C>T - - ABCA12_000045 - PubMed: Akiyama 2008 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Akiyama 2008 - M no Japan - >2y 0 - - 1 Marianne Vos (LOVD-team)
+/. 24 c.3535G>A r.(?) p.(Gly1179Arg) Both (homozygous) - pathogenic g.215855515C>T g.214990791C>T - - ABCA12_000017 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - Laos Hmong 01y06m 0 - - 1 Marianne Vos (LOVD-team)
+?/. - c.3666C>A r.(?) p.(Tyr1222*) Paternal (confirmed) ACMG likely pathogenic g.215854304G>T g.214989580G>T - - ABCA12_000059 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ARCI-4B - Trujillano et al., submitted unaffected heterozygous carrier mother - - - - - 0 - - 1 Daniel Trujillano
+/. 25 c.3673C>T r.(?) p.(Arg1225*) Parent #2 - pathogenic g.215854297G>A g.214989573G>A - - ABCA12_000034 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - - Scandinavia, Bosnian - 0 - - 1 Marianne Vos (LOVD-team)
+/. 26 c.3704G>C r.(?) p.(Trp1235Ser) Parent #2 - pathogenic g.215854178C>G g.214989454C>G Trp1235Ser - ABCA12_000050 - PubMed: Sakai 2009 - - Germline ? - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Sakai 2009 - - - Japan - - 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.3726G>A r.(?) p.(Pro1242=) Unknown - benign g.215854156C>T g.214989432C>T - - ABCA12_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 26 c.3746C>A r.(?) p.(Ser1249*) Both (homozygous) - pathogenic g.215854136G>T g.214989412G>T - - ABCA12_000014 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - United Kingdom (Great Britain) Pakistani 2d 0 - - 1 Marianne Vos (LOVD-team)
+/. 26 c.3746C>A r.(?) p.(Ser1249*) Maternal (confirmed) - pathogenic g.215854136G>T g.214989412G>T Ser1249Term - ABCA12_000014 - PubMed: Akiyama 2007 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ ? - ARCI-4A - PubMed: Akiyama 2007 2-generation family, affected child and fetus - - France - - 0 - - 2 Marianne Vos (LOVD-team)
+/. 26i c.3829+1G>A r.(?) p.? Both (homozygous) - pathogenic g.215854052C>T g.214989328C>T - - ABCA12_000027 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - ? (unknown) - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 27 c.3882G>A r.(?) p.(Trp1294*) Both (homozygous) - pathogenic g.215560710C>T g.214695986C>T 4102G>A (W1293*) - ABCA12_000049 - PubMed: Rajpar 2006 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Rajpar 2006 - M yes United Kingdom (Great Britain) Pakistani >05y06m 0 - - 1 Marianne Vos (LOVD-team)
+/. 27 c.3891G>A r.(?) p.(Arg1297*) Parent #2 - pathogenic g.215852456C>T g.214987732C>T - - ABCA12_000015 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - United Kingdom (Great Britain) Anglo-Saxon >16y 0 - - 1 Marianne Vos (LOVD-team)
+/. 27i_53i c.(3976+1_3977-1)_(*1_?)del r.(del) p.? Both (homozygous) - pathogenic g.(?_215797357)_(215851453_215852370)del - del exon 28-53 - ABCA12_000004 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - Italy - >6y 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.4126T>C r.(?) p.(Leu1376=) Unknown - benign g.215851303A>G g.214986579A>G - - ABCA12_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) Both (homozygous) - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents M yes Morocco - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) Both (homozygous) - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents F yes Morocco - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) Both (homozygous) - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents M yes Morocco - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) Parent #1 - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 2-generation family, 3 affecteds (F, 2M), unaffected carrier parents/sibs - no Mali - - 0 - - 3 Marianne Vos (LOVD-team)
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) Both (homozygous) - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents M yes Algeria - - 0 - - 1 Marianne Vos (LOVD-team)
+/. - c.4139A>G r.(?) p.(Asn1380Ser) Unknown - pathogenic g.215851290T>C g.214986566T>C ABCA12(NM_173076.2):c.4139A>G (p.N1380S) - ABCA12_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.4139A>G r.(?) p.(Asn1380Ser) Unknown - likely pathogenic g.215851290T>C g.214986566T>C ABCA12(NM_173076.2):c.4139A>G (p.N1380S) - ABCA12_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 28 c.4142G>A r.(?) p.(Gly1381Glu) Both (homozygous) - pathogenic g.215851287C>T g.214986563C>T - - ABCA12_000053 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 2-generation family, 3 affecteds (F, 2M), unaffected carrier parents/sibs - yes Morocco - - 0 - - 3 Marianne Vos (LOVD-team)
+/. 28 c.4158_4160del r.(?) p.(Thr1387del) Maternal (confirmed) - pathogenic g.215851274_215851276del g.214986550_214986552del 4158_4160delTAC - ABCA12_000040 - PubMed: Akiyama 2006 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Akiyama 2006 - M - Japan - >01y06m 0 - - 1 Marianne Vos (LOVD-team)
+/. 28 c.4158_4160del r.(?) p.(Thr1387del) Parent #2 - pathogenic g.215851274_215851276del g.214986550_214986552del 4158_4160delTAC - ABCA12_000040 - PubMed: Akiyama 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Akiyama 2005 2-generation family, 2 affecteds (child and fetus), unaffected carrier parents M no Japan - - 0 - - 2 Marianne Vos (LOVD-team)
-/. - c.4163+20T>C r.(=) p.(=) Unknown - benign g.215851246A>G g.214986522A>G ABCA12(NM_173076.2):c.4163+20T>C - ABCA12_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4225A>G r.(?) p.(Ile1409Val) Unknown - benign g.215848528T>C g.214983804T>C - - ABCA12_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 29 c.4262del r.(?) p.(Gly1421Glufs*39) Both (homozygous) - pathogenic g.215848493del g.214983769del - - ABCA12_000029 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - France - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 30 c.4481T>C r.(?) p.(Ile1494Thr) Parent #1 - pathogenic g.215847009A>G g.214982285A>G - - ABCA12_000038 no variant found 2nd chromosome PubMed: Natsuga 2007 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Natsuga 2007 - M - Japan - >42y 0 - - 1 Marianne Vos (LOVD-team)
+?/. - c.4538C>G r.(?) p.(Ser1513Cys) Unknown - likely pathogenic g.215846952G>C g.214982228G>C - - ABCA12_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 30 c.4541G>A r.(?) p.(Arg1514His) Parent #1 - pathogenic g.215846949C>T g.214982225C>T Arg1514His - ABCA12_000052 no variant found 2nd chromosome PubMed: Sakai 2009 - - Germline ? - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Sakai 2009 - - - Japan - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 30 c.4541G>A r.(?) p.(Arg1514His) Both (homozygous) - pathogenic g.215846949C>T g.214982225C>T - - ABCA12_000052 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents M yes Algeria - - 0 - - 1 Marianne Vos (LOVD-team)
?/. - c.4593T>G r.(?) p.(Ile1531Met) Unknown - - g.215845354A>C - ABCA12(NM_173076.2):c.4593T>G (p.I1531M) - ABCA12_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 31 c.4615G>A r.(?) p.(Glu1539Lys) Both (homozygous) - pathogenic g.215845332C>T g.214980608C>T - - ABCA12_000057 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 3-generation family, 1 affected, unaffected carrier parents F yes Algeria - - 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.4941C>T r.(?) p.(Ile1647=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 32 c.4951G>A r.(?) p.(Gly1651Ser) Both (homozygous) - pathogenic g.215843554C>T g.214978830C>T - - ABCA12_000056 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 2-generation family, 3 affecteds (3F), unaffected carrier parents/sibs F yes Algeria - - 0 - - 3 Marianne Vos (LOVD-team)
+/. 32 c.4951G>A r.(?) p.(Glu1651Ser) Parent #2 - pathogenic g.215843554C>T g.214978830C>T 4851G>A - ABCA12_000056 - PubMed: Lefevre 2003 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Lefevre 2003 2-generation family, 3 affecteds (F, 2M), unaffected carrier parents/sibs - no Mali - - 0 - - 3 Marianne Vos (LOVD-team)
+/. 33 c.5005C>T r.(?) p.(Gln1669*) Maternal (confirmed) - pathogenic g.215843163G>A g.214978439G>A - - ABCA12_000046 - PubMed: Akiyama 2008 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Akiyama 2008 - M no Japan - >2y 0 - - 1 Marianne Vos (LOVD-team)
+/. 33 c.5012del r.(?) p.(Asn1671Ilefs*4) Parent #1 - pathogenic g.215843162del g.214978438del 5229delA - ABCA12_000005 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - Italy - >6y 0 - - 1 Marianne Vos (LOVD-team)
+/. 33_33i c.5126_5128+1del r.spl p.? Parent #1 - pathogenic g.215843040_215843043del g.214978316_214978319del 5125_5128delGATG - ABCA12_000028 no variant found 2nd chromosome PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - Syria - - 0 - - 1 Marianne Vos (LOVD-team)
?/. - c.5204A>G r.(?) p.(Lys1735Arg) Unknown - - g.215840686T>C - ABCA12(NM_173076.2):c.5204A>G (p.K1735R) - ABCA12_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 34 c.5231G>A r.(?) p.(Trp1744*) Both (homozygous) - pathogenic g.215840659C>T g.214975935C>T - - ABCA12_000012 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - United States native American, Navajo 00y00m02d 0 - - 1 Marianne Vos (LOVD-team)
+/. 34 c.5231G>A r.(?) p.(Trp1744*) Both (homozygous) - pathogenic g.215840659C>T g.214975935C>T - - ABCA12_000012 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - United States native American, Navajo - 0 - - 1 Marianne Vos (LOVD-team)
+/. 34i c.5381+3_5381+4del r.(spl?) p.? Both (homozygous) - pathogenic g.215840505_215840506del g.214975781_214975782del 5381+3delAA - ABCA12_000035 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 mother Ireland/Poland, father Italy/Germany - - (Ireland);(Poland);(Italy);(Germany) - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 35 c.5393C>T r.(?) p.(Pro1798Leu) Parent #1 - pathogenic g.215839577G>A g.214974853G>A Pro1798Leu - ABCA12_000047 unknown variant found 2nd chromosome PubMed: Sakai 2009 - - Germline ? - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Sakai 2009 - - - Japan - - 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.5617G>A r.(?) p.(Val1873Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 37 c.5641C>T r.(?) p.(Arg1881*) Both (homozygous) - pathogenic g.215835046G>A g.214970322G>A - - ABCA12_000021 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - Egypt - >23y 0 - - 1 Marianne Vos (LOVD-team)
+/. 37 c.5690G>C r.(spl?) p.(Arg1897Thr) Parent #1 - pathogenic g.215834997C>G g.214970273C>G - - ABCA12_000031 no variant found 2nd chromosome PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - Eritrea;Jamaica - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 39 c.5848C>T r.(?) p.(Arg1950*) Parent #2 - pathogenic g.215831608G>A g.214966884G>A - - ABCA12_000042 - PubMed: Akiyama 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Akiyama 2005 2-generation family, 1 affected, unaffected carrier parents M no Japan - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 39 c.5848C>T r.(?) p.(Arg1950*) Parent #1 - pathogenic g.215831608G>A g.214966884G>A Arg1950X - ABCA12_000042 - PubMed: Sakai 2009 - - Germline ? - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Sakai 2009 - - - Japan - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 40 c.5939C>A r.(?) p.(Thr1980Lys) Parent #1 - pathogenic g.215823748G>T g.214959024G>T Thr1980Lys - ABCA12_000048 unknown variant found 2nd chromosome PubMed: Sakai 2009 - - Germline ? - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Sakai 2009 - - - Japan - - 0 - - 1 Marianne Vos (LOVD-team)
+?/. - c.6091T>G r.(?) p.(Trp2031Gly) Unknown - likely pathogenic g.215823027A>C g.214958303A>C ABCA12(NM_173076.2):c.6091T>G (p.W2031G) - ABCA12_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.6091T>G r.(?) p.(Trp2031Gly) Unknown - VUS g.215823027A>C g.214958303A>C ABCA12(NM_173076.2):c.6091T>G (p.W2031G) - ABCA12_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 42 c.6161_6162del r.(?) p.(Ala2054Aspfs*10) Both (homozygous) - pathogenic g.(215821458_215797357)_(215851453215821459)del g.214956734_214956735del 6378delGC - ABCA12_000003 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - Bangladesh - >14y 0 - - 1 Marianne Vos (LOVD-team)
+/. 42i c.6233+1G>T r.(spl?) p.? Both (homozygous) - pathogenic g.215821386C>A g.214956662C>A - - ABCA12_000011 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - Iran - 4m 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.6306C>T r.(?) p.(Tyr2102=) Unknown - benign g.215820013G>A g.214955289G>A - - ABCA12_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.6386A>G r.(?) p.(Asn2129Ser) Unknown - - g.215819933T>C - ABCA12(NM_173076.2):c.6386A>G (p.N2129S) - ABCA12_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 44 c.6443_6445del r.(?) p.(Pro2141del) Both (homozygous) - pathogenic g.215818781_215818783del g.214954057_214954059del - - ABCA12_000030 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - Switzerland - - 0 - - 1 Marianne Vos (LOVD-team)
+/. 44 c.6481C>T r.(?) p.(Gln2161*) Parent #2 - pathogenic g.215818744G>A g.214954020G>A - - ABCA12_000013 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - - Europe, North; Jewish, Ashkenazi >03y06m 0 - - 1 Marianne Vos (LOVD-team)
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