Unique variants in gene ABCA3

Information The variants shown are described using the NM_001089.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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 - c.127C>T r.(?) p.(Arg43Cys) - pathogenic g.2376203G>A - - - ABCA3_000025 - - - - Germline - - - - - Sha Hong
?/. 1 - c.160G>A r.(?) p.(Ala54Thr) - VUS g.2376170C>T g.2326169C>T ABCA3(NM_001089.2):c.160G>A (p.A54T) - ABCA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.393C>T r.(?) p.(Ala131=) - likely benign g.2374459G>A g.2324458G>A ABCA3(NM_001089.2):c.393C>T (p.A131=) - ABCA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.447+11C>T r.(=) p.(=) - likely benign g.2374394G>A g.2324393G>A - - ABCA3_000022 51 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs117031141 Germline - 51/2795 individuals - - - Mohammed Faruq
+?/. 1 - c.604G>A r.(?) p.(Gly202Arg) ACMG likely pathogenic g.2373533C>T g.2323532C>T - - ABCA3_000002 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
-?/. 1 - c.681C>T r.(=) p.(=) - likely benign g.2369774G>A g.2319773G>A - - ABCA3_000021 97 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs45480502 Germline - 97/2795 individuals - - - Mohammed Faruq
+/., +?/. 2 - c.875A>T r.(?) p.(Glu292Val) - pathogenic, likely pathogenic g.2367764T>A g.2317763T>A ABCA3(NM_001089.2):c.875A>T (p.E292V) - ABCA3_000020 VKGL data sharing initiative Nederland, 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs149989682 CLASSIFICATION record, Germline - 1/2791 individuals - - - VKGL-NL_Groningen, Mohammed Faruq
+?/. 1 - c.883C>T r.(?) p.(Arg295Cys) - likely pathogenic g.2367756G>A - ABCA3(NM_001089.2):c.883C>T (p.R295C) - ABCA3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1061C>T r.(?) p.(Ala354Val) - VUS g.2367334G>A g.2317333G>A ABCA3(NM_001089.2):c.1061C>T (p.A354V) - ABCA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 12 c.1383G>A r.(=), r.(?) p.(=), p.(Val461=) - likely benign, VUS g.2354054C>T g.2304053C>T - - ABCA3_000001 - PubMed: Peca 2015, Journal: Peca 2015 - - Germline - - - - - Olivier Danhaive, Johan den Dunnen
-?/. 1 - c.1395G>A r.(?) p.(Leu465=) - likely benign g.2354042C>T g.2304041C>T ABCA3(NM_001089.2):c.1395G>A (p.L465=) - ABCA3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1755C>G r.(?) p.(Pro585=) - benign g.2348528G>C g.2298527G>C ABCA3(NM_001089.2):c.1755C>G (p.P585=) - ABCA3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2268C>T r.(?) p.(Ala756=) - likely benign g.2345737G>A g.2295736G>A ABCA3(NM_001089.2):c.2268C>T (p.A756=) - ABCA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2309C>T r.(?) p.(Pro770Leu) - likely benign g.2345696G>A g.2295695G>A ABCA3(NM_001089.2):c.2309C>T (p.P770L) - ABCA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2389A>C r.(?) p.(Ile797Leu) - VUS g.2345616T>G g.2295615T>G ABCA3(NM_001089.2):c.2389A>C (p.I797L) - ABCA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2460G>A r.(?) p.(Leu820=) - likely benign g.2342194C>T g.2292193C>T ABCA3(NM_001089.2):c.2460G>A (p.L820=) - ABCA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3279G>A r.(?) p.(Glu1093=) - likely benign g.2335647C>T g.2285646C>T ABCA3(NM_001089.2):c.3279G>A (p.E1093=) - ABCA3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3284G>A r.(?) p.(Arg1095Gln) - likely benign g.2335642C>T g.2285641C>T ABCA3(NM_001089.2):c.3284G>A (p.R1095Q) - ABCA3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3373G>A r.(?) p.(Val1125Met) - likely benign g.2335553C>T g.2285552C>T ABCA3(NM_001089.2):c.3373G>A (p.V1125M) - ABCA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -?/. 2 - c.3784A>G r.(?) p.(Ser1262Gly) - VUS, likely benign g.2334358T>C g.2284357T>C ABCA3(NM_001089.2):c.3784A>G (p.(Ser1262Gly)) - ABCA3_000019 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs35089233 Germline, CLASSIFICATION record - 1/2795 individuals - - - Mohammed Faruq, VKGL-NL_Leiden
+?/. 1 - c.3799A>G r.(?) p.(Asn1267Asp) - likely pathogenic g.2334343T>C - - - ABCA3_000024 - - - - Germline - - - - - Sha Hong
-/. 1 - c.4116= r.(=) p.(Ser1372=) - benign g.2331430A>G g.2281429A>G ABCA3(NM_001089.2):c.4116T>C (p.S1372=) - ABCA3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.4165-8G>A r.(=) p.(=) - VUS g.2331230C>T g.2281229C>T ABCA3(NM_001089.2):c.4165-8G>A - ABCA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.4420C>T r.(?) p.(Arg1474Trp) - likely benign g.2329071G>A g.2279070G>A ABCA3(NM_001089.2):c.4420C>T (p.R1474W) - ABCA3_000003 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs146709251 Germline, CLASSIFICATION record - 1/2793 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht, VKGL-NL_Rotterdam
?/. 1 - c.4871T>C r.(?) p.(Leu1624Pro) - VUS g.2327918A>G g.2277917A>G ABCA3(NM_001089.2):c.4871T>C (p.L1624P) - ABCA3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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