Sugi Variant

Sugi Variant/ABCA3

ABCA3 — 1795 ClinVar variants

All ClinVar germline ABCA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 551 flagged for review →

69 Pathogenic · 17 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 104 Conflicting · 75 Benign · 25 Benign/Likely benign · 918 Likely benign · 540 Uncertain significance

Full ABCA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 551

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 30

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 243

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 243

Predictors split 272

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 272

All ABCA3 variants

Pathogenic 69

Pathogenic/Likely pathogenic 17

  • p.Arg208Trp Multiple submitters surfactant metabolism dysfunction, pulmonary, 1 ⚠
  • p.Arg43Cys Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Arg43His Multiple submitters Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies ⚠
  • p.Asp731fs Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Glu1364Lys Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Glu292Val Multiple submitters Diffuse interstitial pulmonary fibrosis
  • p.Gly202Arg Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Gly964Ser Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Lys914Arg Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Phe1077Ile Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Phe1203del Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Pro147Leu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Pro246Leu Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Pro248Leu Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Trp179Cys Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Tyr492fs Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Tyr630Ter Multiple submitters

Likely pathogenic 47

  • c.1112-20G>A Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • c.2053-1G>C Multiple submitters hereditary pulmonary alveolar proteinosis
  • c.2414+1G>A Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • c.614-2A>G Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Ala1070Thr Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg1550Trp Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Arg155Trp Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Glu1540Lys Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Gly1421Arg Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Gly1459Asp Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Gly961= Multiple submitters interstitial lung disease 2
  • p.Pro186Leu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ser1049Pro Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Ser1116Phe Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Thr1114Met Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • c.1285+4_1285+7del Single submitter
  • c.1286-1G>C Single submitter
  • c.1468-2A>G Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.1609_1611+4delinsCCA Single submitter Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
  • c.3278+1G>C Single submitter
  • c.3483+1G>A Single submitter
  • c.3862+2T>C Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.4359+2T>G Single submitter
  • c.447+1G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.613+4A>G Single submitter
  • c.990+1G>T Single submitter
  • c.991-2A>G Single submitter
  • p.Ala1629fs Single submitter interstitial lung disease 2
  • p.Ala307Val Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Asn1519fs Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Asp1058fs Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Asp253His Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Asp507fs Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Cys1256fs Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Gln929Ter Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Gly1302Glu Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Gly1444fs Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Gly429fs Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.His1445fs Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Leu1584fs Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Leu437Pro Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Pro248Ser Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Pro249Leu Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Trp1554fs Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Trp78Ser Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Trp909Ter Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Leu1226Pro No assertion criteria interstitial lung disease due to ABCA3 deficiency

Conflicting classifications of pathogenicity 104

  • c.1611+6G>A Single submitter hereditary pulmonary alveolar proteinosis
  • c.1612-9T>C Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.1897-7G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.2052+7C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.2514-17T>C Single submitter hereditary pulmonary alveolar proteinosis
  • c.3004+15G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.3279-4G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.3483+10G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.3483+15G>A Single submitter hereditary pulmonary alveolar proteinosis
  • c.3484-4G>A Single submitter hereditary pulmonary alveolar proteinosis
  • c.3484-4G>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.3703+17C>G Single submitter hereditary pulmonary alveolar proteinosis
  • c.3862+4A>T Single submitter hereditary pulmonary alveolar proteinosis
  • c.4165-14T>C Single submitter hereditary pulmonary alveolar proteinosis
  • c.4359+14G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.4909+12C>G Single submitter hereditary pulmonary alveolar proteinosis
  • c.55-1G>A Single submitter hereditary pulmonary alveolar proteinosis
  • c.613+18G>T Single submitter hereditary pulmonary alveolar proteinosis
  • c.614-14G>A Single submitter hereditary pulmonary alveolar proteinosis
  • p.Ala1281Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala131= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Ala1338Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1362Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala149Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1566= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Ala275Val Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala2Asp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala414Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala501Glu Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala528= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Ala54Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala756= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Ala902Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1081Trp Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg1170His Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1343Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg20Leu Single submitter interstitial lung disease 2 ⚠
  • p.Arg220Gln Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg280Cys Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg280His Single submitter Bullous lung disease ⚠
  • p.Arg288Lys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg435Gln Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg605Gln Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg638His Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg709Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg892His Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg998= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Asn1076Lys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asn124Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asn140His Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Asn555Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1168= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Asp1180= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Asp123Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1363= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Asp619= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Asp724Glu Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Asp953Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Glu1093= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Glu1325Lys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Gly1205Arg Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Gly1674Ser Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Gly210Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Gly694Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Gly739Ala Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.His1069= Single submitter hereditary pulmonary alveolar proteinosis
  • p.His780= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Ile251= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Ile56Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Leu1065= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Leu1499= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Leu212Met Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Leu314= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Leu381= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Leu39Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Leu707Phe Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Leu960Phe Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Lys816= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Met489Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Phe1077= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Phe1201Tyr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Phe377= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Pro249= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Pro254= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Pro584Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Pro766Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Pro770Leu Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ser1121= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Ser1262Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ser1299= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Ser872= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Ser872Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Thr1211= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Thr1326Asn Single submitter interstitial lung disease 2 ⚠
  • p.Thr25= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Thr274= Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Tyr1188Cys Single submitter ⚠
  • p.Tyr1287= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Val1169Met Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Val1639Ile Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Val1648= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Val1680Met Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Val282= Single submitter hereditary pulmonary alveolar proteinosis
  • p.Val843Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠

Benign 75

Benign/Likely benign 25

  • c.2053-13T>A Multiple submitters hereditary pulmonary alveolar proteinosis
  • c.2264-17G>A Multiple submitters
  • c.3278+16G>A Multiple submitters hereditary pulmonary alveolar proteinosis
  • c.3863-28G>A Multiple submitters hereditary pulmonary alveolar proteinosis
  • c.4165-8G>A Multiple submitters hereditary pulmonary alveolar proteinosis
  • c.447+8G>A Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • c.448-14C>G Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • c.614-9C>T Multiple submitters hereditary pulmonary alveolar proteinosis
  • c.873+10C>T Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • c.-9A>G Multiple submitters
  • p.Arg1474Trp Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Asn516= Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Asp952= Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.His778Arg Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Ile318= Multiple submitters
  • p.Ile677= Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Leu654Val Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Phe71= Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Pro1547= Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Thr574= Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Tyr630= Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Val1056Ile Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Val623= Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Val932= Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Val93Ile Multiple submitters hereditary pulmonary alveolar proteinosis ⚠

Likely benign 918

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 540

Showing the top 300 by review status; the full set is in the sitemap.

  • p.Ala1112Gly Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1166Val Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1206Val Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala1223Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1297Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1405Val Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala1623Val Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1660Val Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala1700Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala229Val Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala230Val Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala348Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala528Val Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala624Val Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala631Thr Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala678Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala681Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala989Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1035Cys Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1081Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1095Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1305Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1367His Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1393Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1455Trp Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1457Gln Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg1474Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1482Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1484Gln Multiple submitters interstitial lung disease 2 ⚠
  • p.Arg1561Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg295His Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg395Trp Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg671His Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg714Cys Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg921Gly Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg921His Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg98Cys Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg98His Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg998Cys Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Asn1418Ser Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Asn334His Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1168Asn Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1465Asn Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Asp253Glu Multiple submitters ⚠
  • p.Asp446Asn Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Asp882Asn Multiple submitters ⚠
  • p.Asp952Asn Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Glu1266Gln Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Glu1269Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Glu1391Lys Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Glu522Lys Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Glu644Lys Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Glu725Lys Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Glu891del Multiple submitters hereditary pulmonary alveolar proteinosis
  • p.Gly1018Ser Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Gly1189Ser Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Gly1443Arg Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Gly559Arg Multiple submitters ⚠
  • p.Gly676Ser Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Gly826Glu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Gly961Ser Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.His534Tyr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.His985Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ile1193Met Multiple submitters ⚠
  • p.Ile355Leu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ile687Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Leu1001= Multiple submitters interstitial lung disease due to ABCA3 deficiency
  • p.Leu1376Gln Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Leu1415Pro Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Leu1435Val Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Leu438Pro Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Leu673His Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Leu837Phe Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Leu941Pro Multiple submitters ⚠
  • p.Met1178Ile Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Met430Val Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Met470Leu Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Met669Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Met847Val Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Phe478Leu Multiple submitters interstitial lung disease 2 ⚠
  • p.Pro138Ala Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Pro1697Leu Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Pro32Leu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Pro333Arg Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Pro490Thr Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ser1157Ile Multiple submitters interstitial lung disease 2 ⚠
  • p.Ser369Asn Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Ser693Leu Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ser948Leu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Thr1173Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Thr1424Met Multiple submitters ⚠
  • p.Thr1556Ala Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Thr761Arg Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Tyr396Cys Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Val1025Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Val1038Ile Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Val129Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Val133Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Val1615Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Val1631Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Val1675Met Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Val214Leu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Val257Met Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • p.Val337Met Multiple submitters ⚠
  • p.Val549Ile Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Val781Met Multiple submitters interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Val926Leu Multiple submitters hereditary pulmonary alveolar proteinosis ⚠
  • c.1111+6C>G Single submitter
  • c.1112-10A>G Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.1467+1740T>C Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.1742-10T>A Single submitter hereditary pulmonary alveolar proteinosis
  • c.1742-9G>A Single submitter
  • c.2414+4C>T Single submitter
  • c.2513+311del Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.3704-6A>G Single submitter
  • c.4035+4A>C Single submitter
  • c.4164+5C>T Single submitter
  • c.-124C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-137C>G Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-173C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-19C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-253G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-2C>T Single submitter
  • c.-325G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-356G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-397C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-423C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-457C>G Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-463G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-491G>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-502C>G Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-539+1575G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-569C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-577G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-659C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-66G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-670C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.-697G>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*154C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*155G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*192G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*1G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*203T>G Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*267C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*268G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*278G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*289G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*379C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*406C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*433C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*447C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*621C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*625A>G Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*689G>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*692C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*738C>A Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*8C>T Single submitter interstitial lung disease due to ABCA3 deficiency
  • c.*96T>C Single submitter interstitial lung disease due to ABCA3 deficiency
  • p.Ala1040Pro Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1040Thr Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala1046Val Single submitter ⚠
  • p.Ala1083Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1124Ser Single submitter ⚠
  • p.Ala1312Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1338Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1370Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1405Glu Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1405Thr Single submitter ⚠
  • p.Ala1493Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala149Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala1528Thr Single submitter ⚠
  • p.Ala1579Ser Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala230Thr Single submitter ⚠
  • p.Ala281Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala319Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala319Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala320Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala320Thr Single submitter ⚠
  • p.Ala348Pro Single submitter ⚠
  • p.Ala376Val Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala547Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala54Pro Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala54Val Single submitter ⚠
  • p.Ala681Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala702Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala734Thr Single submitter interstitial lung disease 2 ⚠
  • p.Ala792Asp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala865Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala869Ser Single submitter ⚠
  • p.Ala877Ser Single submitter ⚠
  • p.Ala886Pro Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala894Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala89Thr Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Ala8Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala917Thr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Ala989Ser Single submitter ⚠
  • p.Arg1022Gln Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1022Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1035His Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1095Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1123Ser Single submitter ⚠
  • p.Arg1174Trp Single submitter ⚠
  • p.Arg1232His Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1232Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1272Lys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1340Gln Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1340Trp Single submitter ABCA3-related disorder ⚠
  • p.Arg1343Gln Single submitter ⚠
  • p.Arg1343Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1351Gln Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1351Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1393Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1455Gln Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1482Trp Single submitter ⚠
  • p.Arg1484Trp Single submitter ⚠
  • p.Arg1489Cys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1489His Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg1583Gln Single submitter ⚠
  • p.Arg160Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1612Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1655Cys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg1655His Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg1704fs Single submitter
  • p.Arg1704Ter Single submitter hereditary pulmonary alveolar proteinosis
  • p.Arg194Gly Single submitter ⚠
  • p.Arg208Gln Single submitter ⚠
  • p.Arg20Gln Single submitter ⚠
  • p.Arg232His Single submitter ⚠
  • p.Arg280Pro Single submitter ⚠
  • p.Arg395Gln Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg540Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg605Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg638Cys Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg661Gln Single submitter ⚠
  • p.Arg661Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg663His Single submitter ⚠
  • p.Arg671Cys Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Arg701Trp Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg714His Single submitter ⚠
  • p.Arg732His Single submitter ⚠
  • p.Arg863Lys Single submitter ⚠
  • p.Arg864His Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Arg921Cys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asn1254Lys Single submitter ⚠
  • p.Asn140Ser Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Asn1418Ile Single submitter ⚠
  • p.Asn14Lys Single submitter ⚠
  • p.Asn1509Lys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asn397Asp Single submitter ⚠
  • p.Asn442Ser Single submitter ⚠
  • p.Asn53Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asn898Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asn945Lys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asn945Ser Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1099Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp118Tyr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1358Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1400Glu Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1439His Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1439Val Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp1632Glu Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Asp1656Ala Single submitter ⚠
  • p.Asp1656Asn Single submitter ⚠
  • p.Asp200Tyr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp253Tyr Single submitter ⚠
  • p.Asp342Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp525Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp551Glu Single submitter ⚠
  • p.Asp600Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp615Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp656Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp713Tyr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Asp772Glu Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Asp867Asn Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Cys1274Tyr Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Cys1577Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Cys328Arg Single submitter ⚠
  • p.Cys406Trp Single submitter ⚠
  • p.Gln1591Leu Single submitter ⚠
  • p.Gln1599His Single submitter interstitial lung disease 2 ⚠
  • p.Gln433Arg Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Gln47Leu Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Gln560Arg Single submitter ⚠
  • p.Gln560Glu Single submitter ⚠
  • p.Gln60Pro Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Gln613Arg Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Gln775Glu Single submitter ⚠
  • p.Gln929His Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Gln980Pro Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Gln991His Single submitter ⚠
  • p.Glu1093Asp Single submitter ⚠
  • p.Glu1093Gly Single submitter interstitial lung disease due to ABCA3 deficiency ⚠
  • p.Glu1269Lys Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Glu1347Gln Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Glu1364Gln Single submitter hereditary pulmonary alveolar proteinosis ⚠
  • p.Glu1433Gln Single submitter ⚠
  • p.Glu1505Gly Single submitter ⚠
  • p.Glu1578Lys Single submitter ⚠
  • p.Glu1671Lys Single submitter ⚠
  • p.Glu1686Gly Single submitter hereditary pulmonary alveolar proteinosis ⚠