Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys)	SNV Germline	Chr2:85663814	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 1 Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA210533	rs_137853202	4 SubmittersRCV000014091 RCV001778652 RCV002381249
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)	SNV Germline	Chr8:22163096	Pathogenic	Surfactant metabolism dysfunction, pulmonary, 2 Condition: not provided Pulmonary fibrosis Hereditary pulmonary alveolar proteinosis	Criteria Provided Multiple Submitters No Conflicts	CA210536	rs_121917834	13 SubmittersRCV000014095 RCV000731190 RCV002509156 RCV002415413
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)	SNV Germline	Chr8:22163947	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 2 Interstitial lung disease 2 Condition: not provided Hereditary pulmonary alveolar proteinosis SFTPC-related disorder	Criteria Provided Conflicting Classifications	CA210538	rs_34957318	7 SubmittersRCV000014096 RCV000261074 RCV002054436 RCV002336082 RCV003904835
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)	SNV Germline	Chr16:2295708	Conflicting classifications of pathogenicity	not specified Condition: not provided Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA182802	rs_45592239	7 SubmittersRCV000155453 RCV000888350 RCV001007589 RCV002444640
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)	SNV Germline	Chr16:2297467	Conflicting classifications of pathogenicity	not specified Interstitial lung disease due to ABCA3 deficiency ABCA3-related disorder Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA175146	rs_148671332	7 SubmittersRCV000150114 RCV001117778 RCV003398796 RCV001775635 RCV002415634
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=)	SNV Germline	Chr16:2297393	Conflicting classifications of pathogenicity	not specified Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis ABCA3-related disorder	Criteria Provided Conflicting Classifications	CA182800	rs_138901284	5 SubmittersRCV000155452 RCV000394710 RCV000895284 RCV002426749 RCV003917529
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)	SNV Germline	Chr16:2300114	Conflicting classifications of pathogenicity	not specified Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA182810	rs_141621969	9 SubmittersRCV000155457 RCV000758248 RCV001517013 RCV002390351
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)	SNV Germline	Chr16:2324484	Conflicting classifications of pathogenicity	not specified Hereditary pulmonary alveolar proteinosis Interstitial lung disease due to ABCA3 deficiency	Criteria Provided Conflicting Classifications	CA175149	rs_145087575	5 SubmittersRCV000150116 RCV002453478 RCV000989468
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	SNV Germline	Chr16:2317763	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Diffuse interstitial pulmonary fibrosis Pulmonary valve insufficiency Pulmonary arterial hypertension Respiratory insufficiency Interstitial lung disease 2 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA203885	rs_149989682	20 SubmittersRCV000185556 RCV000224775 RCV000615487 RCV000735281 RCV002284194 RCV002372142
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu)	SNV Germline	Chr8:22162646	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Surfactant metabolism dysfunction, pulmonary, 2 Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4663906	rs_183533911	4 SubmittersRCV000315399 RCV000490496 RCV002372211 RCV002515598
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys)	SNV Germline	Chr16:2319591	Conflicting classifications of pathogenicity	not specified Condition: not provided Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7841496	rs_117603931	9 SubmittersRCV000219053 RCV000514255 RCV000850152 RCV002444851
NM_001089.3(ABCA3):c.839G>A (p.Arg280His)	SNV Germline	Chr16:2319615	Conflicting classifications of pathogenicity	not specified Interstitial lung disease due to ABCA3 deficiency Condition: not provided Bullous lung disease Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7841503	rs_143008553	7 SubmittersRCV000219325 RCV000308878 RCV001477709 RCV003448905 RCV002433932
NM_001089.3(ABCA3):c.128G>A (p.Arg43His)	SNV Germline	Chr16:2326201	Pathogenic	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7841779	rs_754714105	4 SubmittersRCV000221771 RCV001804948 RCV002381741 RCV003556277
NM_000542.5(SFTPB):c.570G>C (p.Gly190=)	SNV Germline	Chr2:85665618	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 1 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA1744003	rs_141123597	2 SubmittersRCV000330690 RCV004021820
NM_000542.5(SFTPB):c.560C>T (p.Ala187Val)	SNV Germline	Chr2:85665628	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 1 Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA1744007	rs_756571077	3 SubmittersRCV000371293 RCV002356470 RCV002057720
NM_000542.3(SFTPB):c.6C>T (p.His2=)	SNV Germline	Chr2:85668214	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 1 Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA1744198	rs_35509268	3 SubmittersRCV000289430 RCV002057721 RCV002365406
NM_000542.5(SFTPB):c.780G>A (p.Thr260=)	SNV Germline	Chr2:85663740	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 1 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA1743929	rs_528288865	2 SubmittersRCV000401013 RCV003298395
NM_001317778.2(SFTPC):c.*12T>A	SNV Germline	Chr8:22164053	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 2 Interstitial lung disease 2 not specified Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA4664088	rs_200469074	3 SubmittersRCV000288374 RCV000329388 RCV000430447 RCV002446618
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)	SNV Germline	Chr8:22162707	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 2 not specified Interstitial lung disease 2 Pulmonary fibrosis Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA4663918	rs_201567623	5 SubmittersRCV000271807 RCV002248629 RCV000366166 RCV002509375 RCV003556368 RCV002402077
NM_001317778.2(SFTPC):c.42G>A (p.Pro14=)	SNV Germline	Chr8:22161870	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 2 Interstitial lung disease 2 Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4663855	rs_199905878	5 SubmittersRCV000281315 RCV000375927 RCV002328879 RCV002058716
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val)	SNV Germline	Chr8:22163988	Conflicting classifications of pathogenicity	Interstitial lung disease 2 Surfactant metabolism dysfunction, pulmonary, 2 Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA4664075	rs_201685063	6 SubmittersRCV000262185 RCV000331564 RCV001431879 RCV002348113
NM_001089.3(ABCA3):c.4165-14T>C	SNV Germline	Chr16:2281235	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7840217	rs_114420154	3 SubmittersRCV000346526 RCV002520993 RCV002328831
NM_001089.3(ABCA3):c.4027C>T (p.Arg1343Trp)	SNV Germline	Chr16:2283194	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7840302	rs_375124752	3 SubmittersRCV000400735 RCV002356426 RCV002522830
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=)	SNV Germline	Chr16:2295736	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7840888	rs_143552557	5 SubmittersRCV000394719 RCV000953353 RCV002446570
NM_001089.3(ABCA3):c.753C>T (p.Ile251=)	SNV Germline	Chr16:2319701	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided ABCA3-related disorder	Criteria Provided Conflicting Classifications	CA7841529	rs_146161376	5 SubmittersRCV000303146 RCV002392864 RCV002061196 RCV003922342
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=)	SNV Germline	Chr16:2285646	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7840544	rs_148535912	6 SubmittersRCV000335312 RCV002321991 RCV001795939
NM_001089.3(ABCA3):c.2994C>T (p.Arg998=)	SNV Germline	Chr16:2288036	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7840650	rs_748766458	4 SubmittersRCV000287576 RCV002436166 RCV003417994
NM_001089.3(ABCA3):c.942C>G (p.Leu314=)	SNV Germline	Chr16:2317696	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7841445	rs_773723001	3 SubmittersRCV000314878 RCV002446571 RCV003718181
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)	SNV Germline	Chr16:2319616	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency not specified Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7841504	rs_201299260	7 SubmittersRCV000365922 RCV000825854 RCV001850686 RCV002436167
NM_001089.3(ABCA3):c.822C>T (p.Thr274=)	SNV Germline	Chr16:2319632	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7841509	rs_142073032	3 SubmittersRCV000264434 RCV000910691 RCV002411209
NM_001089.3(ABCA3):c.4698C>T (p.Ala1566=)	SNV Germline	Chr16:2278308	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7840046	rs_751040357	3 SubmittersRCV000343112 RCV003765847 RCV002338904
NM_001089.3(ABCA3):c.3897C>T (p.Ser1299=)	SNV Germline	Chr16:2283324	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7840330	rs_147917344	3 SubmittersRCV000312240 RCV002356428 RCV003765848
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu)	SNV Germline	Chr16:2295695	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7840873	rs_143929832	6 SubmittersRCV000345051 RCV000732937 RCV002429269
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe)	SNV Germline	Chr16:2297473	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7840945	rs_147341939	4 SubmittersRCV000299658 RCV000927189 RCV002418169
NM_001089.3(ABCA3):c.1584G>A (p.Ala528=)	SNV Germline	Chr16:2300032	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7841196	rs_377539769	3 SubmittersRCV000286488 RCV000913907 RCV002402031
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu)	SNV Germline	Chr16:2303971	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7841243	rs_150543946	4 SubmittersRCV001007603 RCV002392863 RCV003417996
NM_001089.3(ABCA3):c.846C>T (p.Val282=)	SNV Germline	Chr16:2319608	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7841501	rs_149038393	3 SubmittersRCV000397759 RCV003718182 RCV003165860
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)	SNV Germline	Chr16:2283209	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided not specified Hereditary pulmonary alveolar proteinosis ABCA3-related disorder	Criteria Provided Conflicting Classifications	CA7840309	rs_149871856	6 SubmittersRCV000315299 RCV002520994 RCV003155158 RCV002356427 RCV003950084
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly)	SNV Germline	Chr16:2284357	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis ABCA3-related disorder	Criteria Provided Conflicting Classifications	CA7840395	rs_35089233	5 SubmittersRCV000272311 RCV001556074 RCV002365372 RCV003922339
NM_001089.3(ABCA3):c.3207C>T (p.His1069=)	SNV Germline	Chr16:2286765	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis Interstitial lung disease due to ABCA3 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7840579	rs_151260964	4 SubmittersRCV002321992 RCV000856675 RCV000912676
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr)	SNV Germline	Chr16:2326169	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis ABCA3-related disorder	Criteria Provided Conflicting Classifications	CA7841771	rs_147278907	5 SubmittersRCV000288211 RCV000894058 RCV002392865 RCV003957647
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser)	SNV Germline	Chr16:2324480	Conflicting classifications of pathogenicity	not specified Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications	CA7841690	rs_142977595	4 SubmittersRCV000612210 RCV001121934 RCV002065192 RCV002350435
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)	SNV Germline	Chr2:85665785	Conflicting classifications of pathogenicity	Condition: not provided Surfactant metabolism dysfunction, pulmonary, 1 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_35373464	6 SubmittersRCV000728151 RCV001137243 RCV002332526
NM_001089.3(ABCA3):c.2340C>T (p.His780=)	SNV Germline	Chr16:2295664	Conflicting classifications of pathogenicity	Condition: not provided Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_45620539	5 SubmittersRCV000732940 RCV000758237 RCV003165988
NM_001089.3(ABCA3):c.2053-1G>C	SNV Germline	Chr16:2297540	Likely pathogenic	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Hereditary pulmonary alveolar proteinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1596842934	2 SubmittersRCV000826093 RCV002415955
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met)	SNV Germline	Chr16:2319820	Conflicting classifications of pathogenicity	not specified Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis ABCA3-related disorder	Criteria Provided Conflicting Classifications		rs_139695699	6 SubmittersRCV000825049 RCV001119946 RCV001512155 RCV002363179 RCV003908114
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val)	SNV Germline	Chr16:2281460	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_145251229	4 SubmittersRCV000856676 RCV000902436 RCV002319951
NM_001089.3(ABCA3):c.4944C>T (p.Val1648=)	SNV Germline	Chr16:2277636	Conflicting classifications of pathogenicity	Condition: not provided Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_142584479	6 SubmittersRCV000969917 RCV001115347 RCV002337009
NM_000542.5(SFTPB):c.190G>A (p.Gly64Arg)	SNV Germline	Chr2:85667684	Conflicting classifications of pathogenicity	Condition: not provided Surfactant metabolism dysfunction, pulmonary, 1 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_148914290	3 SubmittersRCV000894695 RCV001140261 RCV002444985
NM_001089.3(ABCA3):c.393C>T (p.Ala131=)	SNV Germline	Chr16:2324458	Conflicting classifications of pathogenicity	Condition: not provided Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_145383120	5 SubmittersRCV000884614 RCV001007615 RCV002372509
NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys)	SNV Germline	Chr16:2283248	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_973835010	2 SubmittersRCV001007596 RCV002354918
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val)	SNV Germline	Chr16:2324405	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_145483014	4 SubmittersRCV001007602 RCV001862749 RCV002327228
NM_001089.3(ABCA3):c.4870C>T (p.Leu1624=)	SNV Germline	Chr16:2277918	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_753648112	3 SubmittersRCV001115349 RCV002327397 RCV003769146
NM_001089.3(ABCA3):c.3234C>T (p.Pro1078=)	SNV Germline	Chr16:2286738	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_149208294	3 SubmittersRCV001117045 RCV002320368 RCV003565456
NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn)	SNV Germline	Chr16:2288173	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Interstitial lung disease 2 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_138092785	5 SubmittersRCV001118678 RCV001532313 RCV002284213 RCV002436711
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly)	SNV Germline	Chr16:2289520	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis ABCA3-related disorder	Criteria Provided Conflicting Classifications		rs_151078160	4 SubmittersRCV001116108 RCV002069869 RCV002429762 RCV003953488
NM_001089.3(ABCA3):c.2448G>A (p.Lys816=)	SNV Germline	Chr16:2292205	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_970709883	3 SubmittersRCV001116225 RCV002451326 RCV003718335
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala)	SNV Germline	Chr16:2297376	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis ABCA3-related disorder	Criteria Provided Conflicting Classifications		rs_150175668	5 SubmittersRCV001116329 RCV002069875 RCV002429764 RCV003918701
NM_001089.3(ABCA3):c.2172C>G (p.Asp724Glu)	SNV Germline	Chr16:2297420	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease 2 Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_200855390	4 SubmittersRCV001117777 RCV002284212 RCV002429765 RCV003574832
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val)	SNV Germline	Chr16:2297858	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_150910102	3 SubmittersRCV001119335 RCV002418586 RCV002558179
NM_001089.3(ABCA3):c.1857C>T (p.Asp619=)	SNV Germline	Chr16:2298425	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_755482452	3 SubmittersRCV001119338 RCV002411635 RCV003769173
NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile)	SNV Germline	Chr16:2299457	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_570927625	3 SubmittersRCV001121350 RCV002402509 RCV003698834
NM_001089.3(ABCA3):c.1008C>G (p.Ala336=)	SNV Germline	Chr16:2317386	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_142260648	3 SubmittersRCV001115259 RCV002451325 RCV003542323
NM_001089.3(ABCA3):c.762C>A (p.Pro254=)	SNV Germline	Chr16:2319692	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_142938848	3 SubmittersRCV001118418 RCV003727869 RCV004032208
NM_001089.3(ABCA3):c.747G>A (p.Pro249=)	SNV Germline	Chr16:2319707	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_139952718	3 SubmittersRCV001118419 RCV003163271 RCV003574833
NM_001089.3(ABCA3):c.639C>T (p.Ala213=)	SNV Germline	Chr16:2319815	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_778504757	3 SubmittersRCV001119945 RCV002365804 RCV003769177
NM_001089.3(ABCA3):c.418A>C (p.Asn140His)	SNV Germline	Chr16:2324433	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_45447801	4 SubmittersRCV001119947 RCV002327400 RCV003235473 RCV001856572
NM_001089.3(ABCA3):c.4909+12C>G	SNV Germline	Chr16:2277867	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_200753263	3 SubmittersRCV001115348 RCV002339404 RCV002556266
NM_001089.3(ABCA3):c.2052+7C>T	SNV Germline	Chr16:2297759	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_376583358	3 SubmittersRCV001117780 RCV002418585 RCV003558680
NM_000542.5(SFTPB):c.725C>T (p.Ala242Val)	SNV Germline	Chr2:85663795	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 1 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_759213352	2 SubmittersRCV001141986 RCV002393367
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala)	SNV Germline	Chr2:85666649	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 1 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_141905538	3 SubmittersRCV001139492 RCV003163307
NM_000542.5(SFTPB):c.225C>T (p.Ile75=)	SNV Germline	Chr2:85667148	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 1 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_145895555	2 SubmittersRCV001139496 RCV004032333
NM_001089.3(ABCA3):c.3228C>G (p.Asn1076Lys)	SNV Germline	Chr16:2286744	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_2093663770	2 SubmittersRCV001200876 RCV002321996
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe)	SNV Germline	Chr16:2288150	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_1022923684	4 SubmittersRCV001200877 RCV002436774 RCV003323813 RCV003558755
NM_001089.3(ABCA3):c.447+8G>A	SNV Germline	Chr16:2324396	Conflicting classifications of pathogenicity	Interstitial lung disease due to ABCA3 deficiency Condition: not provided Hereditary pulmonary alveolar proteinosis ABCA3-related disorder	Criteria Provided Conflicting Classifications		rs_376429116	4 SubmittersRCV001254625 RCV002069350 RCV002327607 RCV003973166
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr)	SNV Germline	Chr8:22164013	Conflicting classifications of pathogenicity	Surfactant metabolism dysfunction, pulmonary, 2 Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_1827914094	3 SubmittersRCV001257121 RCV002348853
NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser)	SNV Germline	Chr2:85663790	Likely pathogenic	Surfactant metabolism dysfunction, pulmonary, 1 Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter		rs_1001637675	2 SubmittersRCV001257452 RCV002393669
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)	SNV Germline	Chr16:2278945	Pathogenic	Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis	Criteria Provided Multiple Submitters No Conflicts		rs_2093650935	5 SubmittersRCV001283781 RCV002339709
NM_000542.5(SFTPB):c.869G>A (p.Gly290Glu)	SNV Germline	Chr2:85663479	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_45504597	3 SubmittersRCV001760550 RCV002370281
NM_001089.3(ABCA3):c.2704G>A (p.Ala902Thr)	SNV Germline	Chr16:2288326	Conflicting classifications of pathogenicity	Condition: not provided Interstitial lung disease due to ABCA3 deficiency Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_367680713	3 SubmittersRCV001776324 RCV002489823 RCV003346692
NM_001317778.2(SFTPC):c.202G>T (p.Val68Phe)	SNV Germline	Chr8:22163080	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_2131816806	2 SubmittersRCV001906643 RCV002423012
NM_001089.3(ABCA3):c.613+18G>T	SNV Germline	Chr16:2323505	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_201364163	2 SubmittersRCV002118812 RCV002352902
NM_001089.3(ABCA3):c.2263+20C>T	SNV Germline	Chr16:2297309	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_144728317	2 SubmittersRCV002184010 RCV002443262
NM_000542.5(SFTPB):c.1083+7C>T	SNV Germline	Chr2:85662022	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications		rs_955981915	2 SubmittersRCV002205797 RCV002434460
NM_001089.3(ABCA3):c.3977C>A (p.Thr1326Asn)	SNV Germline	Chr16:2283244	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis Interstitial lung disease 2	Criteria Provided Conflicting Classifications			2 SubmittersRCV003164423 RCV002284284
NM_000542.5(SFTPB):c.272C>T (p.Thr91Met)	SNV Germline	Chr2:85666738	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV002325780 RCV003102305
NM_001317778.2(SFTPC):c.337T>C (p.Tyr113His)	SNV Germline	Chr8:22163448	Likely pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002451823
NM_001089.3(ABCA3):c.3703+17C>G	SNV Germline	Chr16:2284762	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002348942 RCV003775711
NM_001317778.2(SFTPC):c.334G>C (p.Ala112Pro)	SNV Germline	Chr8:22163445	Likely pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002320976
NM_001089.3(ABCA3):c.3861T>C (p.Tyr1287=)	SNV Germline	Chr16:2284280	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002355553 RCV003094408
NM_001089.3(ABCA3):c.4195G>A (p.Val1399Met)	SNV Germline	Chr16:2281191	Pathogenic	Hereditary pulmonary alveolar proteinosis Condition: not provided Interstitial lung disease due to ABCA3 deficiency	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002327802 RCV003560960 RCV003324025
NM_001089.3(ABCA3):c.4376G>A (p.Gly1459Asp)	SNV Germline	Chr16:2279114	Likely pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002333538
NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu)	SNV Germline	Chr16:2324411	Pathogenic/Likely pathogenic	Hereditary pulmonary alveolar proteinosis Condition: not provided Interstitial lung disease due to ABCA3 deficiency Loeys-Dietz syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002333802 RCV003560962 RCV004526925 RCV004545297
NM_001317778.2(SFTPC):c.329T>C (p.Leu110Pro)	SNV Germline	Chr8:22163440	Pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002454674
NM_001089.3(ABCA3):c.3483+15G>A	SNV Germline	Chr16:2285427	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002457382 RCV003775640
NM_001089.3(ABCA3):c.3484-4G>A	SNV Germline	Chr16:2285002	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002337526 RCV003728089
NM_001089.3(ABCA3):c.3805G>T (p.Glu1269Ter)	SNV Germline	Chr16:2284336	Pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002355208
NM_001317778.2(SFTPC):c.435G>A (p.Gln145=)	SNV Germline	Chr8:22163546	Likely pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002332336
NM_001089.3(ABCA3):c.629G>T (p.Gly210Val)	SNV Germline	Chr16:2319825	Pathogenic/Likely pathogenic	Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003560977 RCV002368765
NM_001089.3(ABCA3):c.4618G>A (p.Glu1540Lys)	SNV Germline	Chr16:2278388	Likely pathogenic	Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002342492 RCV003728102
NM_001089.3(ABCA3):c.4648C>T (p.Arg1550Trp)	SNV Germline	Chr16:2278358	Likely pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002335061
NM_001089.3(ABCA3):c.557C>T (p.Pro186Leu)	SNV Germline	Chr16:2323579	Likely pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002344737
NM_000542.5(SFTPB):c.754C>T (p.Arg252Cys)	SNV Germline	Chr2:85663766	Pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002416681
NM_000542.5(SFTPB):c.883C>T (p.Arg295Ter)	SNV Germline	Chr2:85663465	Pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002378942
NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys)	SNV Germline	Chr16:2326202	Pathogenic/Likely pathogenic	Hereditary pulmonary alveolar proteinosis Interstitial lung disease due to ABCA3 deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002385293 RCV003485780 RCV003560998
NM_001089.3(ABCA3):c.743C>T (p.Pro248Leu)	SNV Germline	Chr16:2319711	Pathogenic/Likely pathogenic	Hereditary pulmonary alveolar proteinosis Interstitial lung disease due to ABCA3 deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002385062 RCV003324031 RCV003103402
NM_001089.3(ABCA3):c.1240G>A (p.Ala414Thr)	SNV Germline	Chr16:2308495	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV002380078 RCV004526196
NM_000542.5(SFTPB):c.904T>G (p.Cys302Gly)	SNV Germline	Chr2:85663444	Likely pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002373973
NM_001089.3(ABCA3):c.1302G>A (p.Trp434Ter)	SNV Germline	Chr16:2304134	Pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002380880
NM_001089.3(ABCA3):c.1444C>T (p.Gln482Ter)	SNV Germline	Chr16:2303992	Pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002394426
NM_001089.3(ABCA3):c.1455C>A (p.Tyr485Ter)	SNV Germline	Chr16:2303981	Pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002394687
NM_001089.3(ABCA3):c.1455C>G (p.Tyr485Ter)	SNV Germline	Chr16:2303981	Pathogenic	Hereditary pulmonary alveolar proteinosis	Criteria Provided Single Submitter			1 SubmittersRCV002394688
NM_001089.3(ABCA3):c.2514-17T>C	SNV Germline	Chr16:2289637	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002434942 RCV003775280
NM_001089.3(ABCA3):c.2527G>C (p.Val843Leu)	SNV Germline	Chr16:2289607	Conflicting classifications of pathogenicity	Hereditary pulmonary alveolar proteinosis ABCA3-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002455701 RCV003943406
NM_001089.3(ABCA3):c.614-14G>A	SNV Germline	Chr16:2319854	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pulmonary alveolar proteinosis	Criteria Provided Conflicting Classifications			2 SubmittersRCV003861042 RCV004018010

NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys)

SNV
Germline

Chr2:85663814

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 1
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA210533

rs_137853202

4 SubmittersRCV000014091 RCV001778652 RCV002381249

NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)

SNV
Germline

Chr8:22163096

Pathogenic

Surfactant metabolism dysfunction, pulmonary, 2
Condition: not provided
Pulmonary fibrosis
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA210536

rs_121917834

13 SubmittersRCV000014095 RCV000731190 RCV002509156 RCV002415413

NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)

SNV
Germline

Chr8:22163947

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 2
Interstitial lung disease 2
Condition: not provided
Hereditary pulmonary alveolar proteinosis
SFTPC-related disorder

Criteria Provided
Conflicting Classifications

CA210538

rs_34957318

7 SubmittersRCV000014096 RCV000261074 RCV002054436 RCV002336082 RCV003904835

NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)

SNV
Germline

Chr16:2295708

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA182802

rs_45592239

7 SubmittersRCV000155453 RCV000888350 RCV001007589 RCV002444640

NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)

SNV
Germline

Chr16:2297467

Conflicting classifications of pathogenicity

not specified
Interstitial lung disease due to ABCA3 deficiency
ABCA3-related disorder
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA175146

rs_148671332

7 SubmittersRCV000150114 RCV001117778 RCV003398796 RCV001775635 RCV002415634

NM_001089.3(ABCA3):c.2199C>T (p.Ile733=)

SNV
Germline

Chr16:2297393

Conflicting classifications of pathogenicity

not specified
Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

CA182800

rs_138901284

5 SubmittersRCV000155452 RCV000394710 RCV000895284 RCV002426749 RCV003917529

NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)

SNV
Germline

Chr16:2300114

Conflicting classifications of pathogenicity

not specified
Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA182810

rs_141621969

9 SubmittersRCV000155457 RCV000758248 RCV001517013 RCV002390351

NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)

SNV
Germline

Chr16:2324484

Conflicting classifications of pathogenicity

not specified
Hereditary pulmonary alveolar proteinosis
Interstitial lung disease due to ABCA3 deficiency

Criteria Provided
Conflicting Classifications

CA175149

rs_145087575

5 SubmittersRCV000150116 RCV002453478 RCV000989468

NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)

SNV
Germline

Chr16:2317763

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Diffuse interstitial pulmonary fibrosis
Pulmonary valve insufficiency
Pulmonary arterial hypertension
Respiratory insufficiency
Interstitial lung disease 2
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA203885

rs_149989682

20 SubmittersRCV000185556 RCV000224775 RCV000615487 RCV000735281 RCV002284194 RCV002372142

NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu)

SNV
Germline

Chr8:22162646

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Surfactant metabolism dysfunction, pulmonary, 2
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4663906

rs_183533911

4 SubmittersRCV000315399 RCV000490496 RCV002372211 RCV002515598

NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys)

SNV
Germline

Chr16:2319591

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7841496

rs_117603931

9 SubmittersRCV000219053 RCV000514255 RCV000850152 RCV002444851

NM_001089.3(ABCA3):c.839G>A (p.Arg280His)

SNV
Germline

Chr16:2319615

Conflicting classifications of pathogenicity

not specified
Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Bullous lung disease
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7841503

rs_143008553

7 SubmittersRCV000219325 RCV000308878 RCV001477709 RCV003448905 RCV002433932

NM_001089.3(ABCA3):c.128G>A (p.Arg43His)

SNV
Germline

Chr16:2326201

Pathogenic

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7841779

rs_754714105

4 SubmittersRCV000221771 RCV001804948 RCV002381741 RCV003556277

NM_000542.5(SFTPB):c.570G>C (p.Gly190=)

SNV
Germline

Chr2:85665618

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 1
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA1744003

rs_141123597

2 SubmittersRCV000330690 RCV004021820

NM_000542.5(SFTPB):c.560C>T (p.Ala187Val)

SNV
Germline

Chr2:85665628

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 1
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1744007

rs_756571077

3 SubmittersRCV000371293 RCV002356470 RCV002057720

NM_000542.3(SFTPB):c.6C>T (p.His2=)

SNV
Germline

Chr2:85668214

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 1
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA1744198

rs_35509268

3 SubmittersRCV000289430 RCV002057721 RCV002365406

NM_000542.5(SFTPB):c.780G>A (p.Thr260=)

SNV
Germline

Chr2:85663740

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 1
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA1743929

rs_528288865

2 SubmittersRCV000401013 RCV003298395

NM_001317778.2(SFTPC):c.*12T>A

SNV
Germline

Chr8:22164053

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 2
Interstitial lung disease 2
not specified
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA4664088

rs_200469074

3 SubmittersRCV000288374 RCV000329388 RCV000430447 RCV002446618

NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)

SNV
Germline

Chr8:22162707

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 2
not specified
Interstitial lung disease 2
Pulmonary fibrosis
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA4663918

rs_201567623

5 SubmittersRCV000271807 RCV002248629 RCV000366166 RCV002509375 RCV003556368 RCV002402077

NM_001317778.2(SFTPC):c.42G>A (p.Pro14=)

SNV
Germline

Chr8:22161870

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 2
Interstitial lung disease 2
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4663855

rs_199905878

5 SubmittersRCV000281315 RCV000375927 RCV002328879 RCV002058716

NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val)

SNV
Germline

Chr8:22163988

Conflicting classifications of pathogenicity

Interstitial lung disease 2
Surfactant metabolism dysfunction, pulmonary, 2
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA4664075

rs_201685063

6 SubmittersRCV000262185 RCV000331564 RCV001431879 RCV002348113

NM_001089.3(ABCA3):c.4165-14T>C

SNV
Germline

Chr16:2281235

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7840217

rs_114420154

3 SubmittersRCV000346526 RCV002520993 RCV002328831

NM_001089.3(ABCA3):c.4027C>T (p.Arg1343Trp)

SNV
Germline

Chr16:2283194

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7840302

rs_375124752

3 SubmittersRCV000400735 RCV002356426 RCV002522830

NM_001089.3(ABCA3):c.2268C>T (p.Ala756=)

SNV
Germline

Chr16:2295736

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7840888

rs_143552557

5 SubmittersRCV000394719 RCV000953353 RCV002446570

NM_001089.3(ABCA3):c.753C>T (p.Ile251=)

SNV
Germline

Chr16:2319701

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

CA7841529

rs_146161376

5 SubmittersRCV000303146 RCV002392864 RCV002061196 RCV003922342

NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=)

SNV
Germline

Chr16:2285646

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7840544

rs_148535912

6 SubmittersRCV000335312 RCV002321991 RCV001795939

NM_001089.3(ABCA3):c.2994C>T (p.Arg998=)

SNV
Germline

Chr16:2288036

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7840650

rs_748766458

4 SubmittersRCV000287576 RCV002436166 RCV003417994

NM_001089.3(ABCA3):c.942C>G (p.Leu314=)

SNV
Germline

Chr16:2317696

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7841445

rs_773723001

3 SubmittersRCV000314878 RCV002446571 RCV003718181

NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)

SNV
Germline

Chr16:2319616

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
not specified
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7841504

rs_201299260

7 SubmittersRCV000365922 RCV000825854 RCV001850686 RCV002436167

NM_001089.3(ABCA3):c.822C>T (p.Thr274=)

SNV
Germline

Chr16:2319632

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7841509

rs_142073032

3 SubmittersRCV000264434 RCV000910691 RCV002411209

NM_001089.3(ABCA3):c.4698C>T (p.Ala1566=)

SNV
Germline

Chr16:2278308

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7840046

rs_751040357

3 SubmittersRCV000343112 RCV003765847 RCV002338904

NM_001089.3(ABCA3):c.3897C>T (p.Ser1299=)

SNV
Germline

Chr16:2283324

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7840330

rs_147917344

3 SubmittersRCV000312240 RCV002356428 RCV003765848

NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu)

SNV
Germline

Chr16:2295695

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7840873

rs_143929832

6 SubmittersRCV000345051 RCV000732937 RCV002429269

NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe)

SNV
Germline

Chr16:2297473

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7840945

rs_147341939

4 SubmittersRCV000299658 RCV000927189 RCV002418169

NM_001089.3(ABCA3):c.1584G>A (p.Ala528=)

SNV
Germline

Chr16:2300032

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7841196

rs_377539769

3 SubmittersRCV000286488 RCV000913907 RCV002402031

NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu)

SNV
Germline

Chr16:2303971

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7841243

rs_150543946

4 SubmittersRCV001007603 RCV002392863 RCV003417996

NM_001089.3(ABCA3):c.846C>T (p.Val282=)

SNV
Germline

Chr16:2319608

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7841501

rs_149038393

3 SubmittersRCV000397759 RCV003718182 RCV003165860

NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)

SNV
Germline

Chr16:2283209

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
not specified
Hereditary pulmonary alveolar proteinosis
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

CA7840309

rs_149871856

6 SubmittersRCV000315299 RCV002520994 RCV003155158 RCV002356427 RCV003950084

NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly)

SNV
Germline

Chr16:2284357

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

CA7840395

rs_35089233

5 SubmittersRCV000272311 RCV001556074 RCV002365372 RCV003922339

NM_001089.3(ABCA3):c.3207C>T (p.His1069=)

SNV
Germline

Chr16:2286765

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
Interstitial lung disease due to ABCA3 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7840579

rs_151260964

4 SubmittersRCV002321992 RCV000856675 RCV000912676

NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr)

SNV
Germline

Chr16:2326169

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

CA7841771

rs_147278907

5 SubmittersRCV000288211 RCV000894058 RCV002392865 RCV003957647

NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser)

SNV
Germline

Chr16:2324480

Conflicting classifications of pathogenicity

not specified
Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

CA7841690

rs_142977595

4 SubmittersRCV000612210 RCV001121934 RCV002065192 RCV002350435

NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)

SNV
Germline

Chr2:85665785

Conflicting classifications of pathogenicity

Condition: not provided
Surfactant metabolism dysfunction, pulmonary, 1
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_35373464

6 SubmittersRCV000728151 RCV001137243 RCV002332526

NM_001089.3(ABCA3):c.2340C>T (p.His780=)

SNV
Germline

Chr16:2295664

Conflicting classifications of pathogenicity

Condition: not provided
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_45620539

5 SubmittersRCV000732940 RCV000758237 RCV003165988

NM_001089.3(ABCA3):c.2053-1G>C

SNV
Germline

Chr16:2297540

Likely pathogenic

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596842934

2 SubmittersRCV000826093 RCV002415955

NM_001089.3(ABCA3):c.634C>A (p.Leu212Met)

SNV
Germline

Chr16:2319820

Conflicting classifications of pathogenicity

not specified
Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

rs_139695699

6 SubmittersRCV000825049 RCV001119946 RCV001512155 RCV002363179 RCV003908114

NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val)

SNV
Germline

Chr16:2281460

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_145251229

4 SubmittersRCV000856676 RCV000902436 RCV002319951

NM_001089.3(ABCA3):c.4944C>T (p.Val1648=)

SNV
Germline

Chr16:2277636

Conflicting classifications of pathogenicity

Condition: not provided
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_142584479

6 SubmittersRCV000969917 RCV001115347 RCV002337009

NM_000542.5(SFTPB):c.190G>A (p.Gly64Arg)

SNV
Germline

Chr2:85667684

Conflicting classifications of pathogenicity

Condition: not provided
Surfactant metabolism dysfunction, pulmonary, 1
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_148914290

3 SubmittersRCV000894695 RCV001140261 RCV002444985

NM_001089.3(ABCA3):c.393C>T (p.Ala131=)

SNV
Germline

Chr16:2324458

Conflicting classifications of pathogenicity

Condition: not provided
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_145383120

5 SubmittersRCV000884614 RCV001007615 RCV002372509

NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys)

SNV
Germline

Chr16:2283248

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_973835010

2 SubmittersRCV001007596 RCV002354918

NM_001089.3(ABCA3):c.446C>T (p.Ala149Val)

SNV
Germline

Chr16:2324405

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_145483014

4 SubmittersRCV001007602 RCV001862749 RCV002327228

NM_001089.3(ABCA3):c.4870C>T (p.Leu1624=)

SNV
Germline

Chr16:2277918

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753648112

3 SubmittersRCV001115349 RCV002327397 RCV003769146

NM_001089.3(ABCA3):c.3234C>T (p.Pro1078=)

SNV
Germline

Chr16:2286738

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149208294

3 SubmittersRCV001117045 RCV002320368 RCV003565456

NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn)

SNV
Germline

Chr16:2288173

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Interstitial lung disease 2
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_138092785

5 SubmittersRCV001118678 RCV001532313 RCV002284213 RCV002436711

NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly)

SNV
Germline

Chr16:2289520

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

rs_151078160

4 SubmittersRCV001116108 RCV002069869 RCV002429762 RCV003953488

NM_001089.3(ABCA3):c.2448G>A (p.Lys816=)

SNV
Germline

Chr16:2292205

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_970709883

3 SubmittersRCV001116225 RCV002451326 RCV003718335

NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala)

SNV
Germline

Chr16:2297376

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

rs_150175668

5 SubmittersRCV001116329 RCV002069875 RCV002429764 RCV003918701

NM_001089.3(ABCA3):c.2172C>G (p.Asp724Glu)

SNV
Germline

Chr16:2297420

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Interstitial lung disease 2
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200855390

4 SubmittersRCV001117777 RCV002284212 RCV002429765 RCV003574832

NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val)

SNV
Germline

Chr16:2297858

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150910102

3 SubmittersRCV001119335 RCV002418586 RCV002558179

NM_001089.3(ABCA3):c.1857C>T (p.Asp619=)

SNV
Germline

Chr16:2298425

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755482452

3 SubmittersRCV001119338 RCV002411635 RCV003769173

NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile)

SNV
Germline

Chr16:2299457

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_570927625

3 SubmittersRCV001121350 RCV002402509 RCV003698834

NM_001089.3(ABCA3):c.1008C>G (p.Ala336=)

SNV
Germline

Chr16:2317386

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142260648

3 SubmittersRCV001115259 RCV002451325 RCV003542323

NM_001089.3(ABCA3):c.762C>A (p.Pro254=)

SNV
Germline

Chr16:2319692

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_142938848

3 SubmittersRCV001118418 RCV003727869 RCV004032208

NM_001089.3(ABCA3):c.747G>A (p.Pro249=)

SNV
Germline

Chr16:2319707

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139952718

3 SubmittersRCV001118419 RCV003163271 RCV003574833

NM_001089.3(ABCA3):c.639C>T (p.Ala213=)

SNV
Germline

Chr16:2319815

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778504757

3 SubmittersRCV001119945 RCV002365804 RCV003769177

NM_001089.3(ABCA3):c.418A>C (p.Asn140His)

SNV
Germline

Chr16:2324433

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_45447801

4 SubmittersRCV001119947 RCV002327400 RCV003235473 RCV001856572

NM_001089.3(ABCA3):c.4909+12C>G

SNV
Germline

Chr16:2277867

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200753263

3 SubmittersRCV001115348 RCV002339404 RCV002556266

NM_001089.3(ABCA3):c.2052+7C>T

SNV
Germline

Chr16:2297759

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376583358

3 SubmittersRCV001117780 RCV002418585 RCV003558680

NM_000542.5(SFTPB):c.725C>T (p.Ala242Val)

SNV
Germline

Chr2:85663795

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 1
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_759213352

2 SubmittersRCV001141986 RCV002393367

NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala)

SNV
Germline

Chr2:85666649

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 1
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_141905538

3 SubmittersRCV001139492 RCV003163307

NM_000542.5(SFTPB):c.225C>T (p.Ile75=)

SNV
Germline

Chr2:85667148

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 1
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_145895555

2 SubmittersRCV001139496 RCV004032333

NM_001089.3(ABCA3):c.3228C>G (p.Asn1076Lys)

SNV
Germline

Chr16:2286744

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_2093663770

2 SubmittersRCV001200876 RCV002321996

NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe)

SNV
Germline

Chr16:2288150

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1022923684

4 SubmittersRCV001200877 RCV002436774 RCV003323813 RCV003558755

NM_001089.3(ABCA3):c.447+8G>A

SNV
Germline

Chr16:2324396

Conflicting classifications of pathogenicity

Interstitial lung disease due to ABCA3 deficiency
Condition: not provided
Hereditary pulmonary alveolar proteinosis
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

rs_376429116

4 SubmittersRCV001254625 RCV002069350 RCV002327607 RCV003973166

NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr)

SNV
Germline

Chr8:22164013

Conflicting classifications of pathogenicity

Surfactant metabolism dysfunction, pulmonary, 2
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_1827914094

3 SubmittersRCV001257121 RCV002348853

NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser)

SNV
Germline

Chr2:85663790

Likely pathogenic

Surfactant metabolism dysfunction, pulmonary, 1
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

rs_1001637675

2 SubmittersRCV001257452 RCV002393669

NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)

SNV
Germline

Chr16:2278945

Pathogenic

Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2093650935

5 SubmittersRCV001283781 RCV002339709

NM_000542.5(SFTPB):c.869G>A (p.Gly290Glu)

SNV
Germline

Chr2:85663479

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_45504597

3 SubmittersRCV001760550 RCV002370281

NM_001089.3(ABCA3):c.2704G>A (p.Ala902Thr)

SNV
Germline

Chr16:2288326

Conflicting classifications of pathogenicity

Condition: not provided
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_367680713

3 SubmittersRCV001776324 RCV002489823 RCV003346692

NM_001317778.2(SFTPC):c.202G>T (p.Val68Phe)

SNV
Germline

Chr8:22163080

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_2131816806

2 SubmittersRCV001906643 RCV002423012

NM_001089.3(ABCA3):c.613+18G>T

SNV
Germline

Chr16:2323505

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_201364163

2 SubmittersRCV002118812 RCV002352902

NM_001089.3(ABCA3):c.2263+20C>T

SNV
Germline

Chr16:2297309

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_144728317

2 SubmittersRCV002184010 RCV002443262

NM_000542.5(SFTPB):c.1083+7C>T

SNV
Germline

Chr2:85662022

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

rs_955981915

2 SubmittersRCV002205797 RCV002434460

NM_001089.3(ABCA3):c.3977C>A (p.Thr1326Asn)

SNV
Germline

Chr16:2283244

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
Interstitial lung disease 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003164423 RCV002284284

NM_000542.5(SFTPB):c.272C>T (p.Thr91Met)

SNV
Germline

Chr2:85666738

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002325780 RCV003102305

NM_001317778.2(SFTPC):c.337T>C (p.Tyr113His)

SNV
Germline

Chr8:22163448

Likely pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002451823

NM_001089.3(ABCA3):c.3703+17C>G

SNV
Germline

Chr16:2284762

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002348942 RCV003775711

NM_001317778.2(SFTPC):c.334G>C (p.Ala112Pro)

SNV
Germline

Chr8:22163445

Likely pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002320976

NM_001089.3(ABCA3):c.3861T>C (p.Tyr1287=)

SNV
Germline

Chr16:2284280

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002355553 RCV003094408

NM_001089.3(ABCA3):c.4195G>A (p.Val1399Met)

SNV
Germline

Chr16:2281191

Pathogenic

Hereditary pulmonary alveolar proteinosis
Condition: not provided
Interstitial lung disease due to ABCA3 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002327802 RCV003560960 RCV003324025

NM_001089.3(ABCA3):c.4376G>A (p.Gly1459Asp)

SNV
Germline

Chr16:2279114

Likely pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002333538

NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu)

SNV
Germline

Chr16:2324411

Pathogenic/Likely pathogenic

Hereditary pulmonary alveolar proteinosis
Condition: not provided
Interstitial lung disease due to ABCA3 deficiency
Loeys-Dietz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002333802 RCV003560962 RCV004526925 RCV004545297

NM_001317778.2(SFTPC):c.329T>C (p.Leu110Pro)

SNV
Germline

Chr8:22163440

Pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002454674

NM_001089.3(ABCA3):c.3483+15G>A

SNV
Germline

Chr16:2285427

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002457382 RCV003775640

NM_001089.3(ABCA3):c.3484-4G>A

SNV
Germline

Chr16:2285002

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002337526 RCV003728089

NM_001089.3(ABCA3):c.3805G>T (p.Glu1269Ter)

SNV
Germline

Chr16:2284336

Pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002355208

NM_001317778.2(SFTPC):c.435G>A (p.Gln145=)

SNV
Germline

Chr8:22163546

Likely pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002332336

NM_001089.3(ABCA3):c.629G>T (p.Gly210Val)

SNV
Germline

Chr16:2319825

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003560977 RCV002368765

NM_001089.3(ABCA3):c.4618G>A (p.Glu1540Lys)

SNV
Germline

Chr16:2278388

Likely pathogenic

Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002342492 RCV003728102

NM_001089.3(ABCA3):c.4648C>T (p.Arg1550Trp)

SNV
Germline

Chr16:2278358

Likely pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002335061

NM_001089.3(ABCA3):c.557C>T (p.Pro186Leu)

SNV
Germline

Chr16:2323579

Likely pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002344737

NM_000542.5(SFTPB):c.754C>T (p.Arg252Cys)

SNV
Germline

Chr2:85663766

Pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002416681

NM_000542.5(SFTPB):c.883C>T (p.Arg295Ter)

SNV
Germline

Chr2:85663465

Pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002378942

NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys)

SNV
Germline

Chr16:2326202

Pathogenic/Likely pathogenic

Hereditary pulmonary alveolar proteinosis
Interstitial lung disease due to ABCA3 deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002385293 RCV003485780 RCV003560998

NM_001089.3(ABCA3):c.743C>T (p.Pro248Leu)

SNV
Germline

Chr16:2319711

Pathogenic/Likely pathogenic

Hereditary pulmonary alveolar proteinosis
Interstitial lung disease due to ABCA3 deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002385062 RCV003324031 RCV003103402

NM_001089.3(ABCA3):c.1240G>A (p.Ala414Thr)

SNV
Germline

Chr16:2308495

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002380078 RCV004526196

NM_000542.5(SFTPB):c.904T>G (p.Cys302Gly)

SNV
Germline

Chr2:85663444

Likely pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002373973

NM_001089.3(ABCA3):c.1302G>A (p.Trp434Ter)

SNV
Germline

Chr16:2304134

Pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002380880

NM_001089.3(ABCA3):c.1444C>T (p.Gln482Ter)

SNV
Germline

Chr16:2303992

Pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002394426

NM_001089.3(ABCA3):c.1455C>A (p.Tyr485Ter)

SNV
Germline

Chr16:2303981

Pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002394687

NM_001089.3(ABCA3):c.1455C>G (p.Tyr485Ter)

SNV
Germline

Chr16:2303981

Pathogenic

Hereditary pulmonary alveolar proteinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002394688

NM_001089.3(ABCA3):c.2514-17T>C

SNV
Germline

Chr16:2289637

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002434942 RCV003775280

NM_001089.3(ABCA3):c.2527G>C (p.Val843Leu)

SNV
Germline

Chr16:2289607

Conflicting classifications of pathogenicity

Hereditary pulmonary alveolar proteinosis
ABCA3-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002455701 RCV003943406

NM_001089.3(ABCA3):c.614-14G>A

SNV
Germline

Chr16:2319854

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pulmonary alveolar proteinosis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003861042 RCV004018010