ABCA3 (ATP binding cassette subfamily A member 3) - Rat Genome Database

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Gene: ABCA3 (ATP binding cassette subfamily A member 3) Homo sapiens
Analyze
Symbol: ABCA3
Name: ATP binding cassette subfamily A member 3
RGD ID: 1316207
HGNC Page HGNC:33
Description: Enables ABC-type xenobiotic transporter activity; ATP hydrolysis activity; and phosphatidylcholine transporter activity. Involved in several processes, including positive regulation of lipid transport; positive regulation of protein homooligomerization; and xenobiotic transmembrane transport. Located in alveolar lamellar body membrane; late endosome; and plasma membrane. Implicated in pulmonary alveolar proteinosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC transporter 3; ABC-C; ABC-C transporter; ABC3; ATP-binding cassette sub-family A member 3; ATP-binding cassette transporter 3; ATP-binding cassette, sub-family A (ABC1), member 3; EST111653; LBM180; MGC166979; MGC72201; phospholipid-transporting ATPase ABCA3; SMDP3; xenobiotic-transporting ATPase ABCA3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ABCA3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,275,881 - 2,340,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl162,275,881 - 2,340,746 (-)EnsemblGRCh38hg38GRCh38
GRCh37162,325,882 - 2,390,729 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,265,880 - 2,330,748 (-)NCBINCBI36Build 36hg18NCBI36
Build 34162,265,883 - 2,330,595NCBI
Celera162,540,308 - 2,605,176 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,251,902 - 2,305,693 (-)NCBIHuRef
CHM1_1162,325,836 - 2,390,894 (-)NCBICHM1_1
T2T-CHM13v2.0162,298,327 - 2,363,113 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal heart morphology  (IAGP)
Abnormal pulmonary interstitial morphology  (IAGP)
Abnormal thorax morphology  (IAGP)
Absent bronchoalveolar surfactant-protein C  (IAGP)
Apnea  (IAGP)
Atelectasis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bradycardia  (IAGP)
Bronchial wall thickening  (IAGP)
Bronchiectasis  (IAGP)
Cardiac arrest  (IAGP)
Clubbing  (IAGP)
Clubbing of fingers  (IAGP)
Congenital onset  (IAGP)
Cough  (IAGP)
Crackles  (IAGP)
Crazy paving pattern  (IAGP)
Cyanosis  (IAGP)
Cystic pattern on pulmonary HRCT  (IAGP)
Death in infancy  (IAGP)
Desquamative interstitial pneumonitis  (IAGP)
Endometrial carcinoma  (IAGP)
Exertional dyspnea  (IAGP)
Failure to thrive  (IAGP)
Gastroesophageal reflux  (IAGP)
Ground-glass opacification  (IAGP)
Honeycomb lung  (IAGP)
Hypotension  (IAGP)
Hypoxemia  (IAGP)
Intraalveolar phospholipid accumulation  (IAGP)
Nasal flaring  (IAGP)
Neonatal death  (IAGP)
Neonatal respiratory distress  (IAGP)
Nodular pattern on pulmonary HRCT  (IAGP)
Nonspecific interstitial pneumonia  (IAGP)
Paraseptal emphysema  (IAGP)
Pneumonia  (IAGP)
Premature birth  (IAGP)
Prostate cancer  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary edema  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary insufficiency  (IAGP)
Pulmonary lymphangiectasia  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Reticular pattern on pulmonary HRCT  (IAGP)
Seizure  (IAGP)
Sepsis  (IAGP)
Tachycardia  (IAGP)
Tachypnea  (IAGP)
Usual interstitial pneumonia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Genetic disorders of surfactant homeostasis. Whitsett JA, etal., Biol Neonate 2005;87(4):283-7. Epub 2005 Jun 1.
Additional References at PubMed
PMID:8706931   PMID:9027511   PMID:11718719   PMID:11940594   PMID:12477932   PMID:15044640   PMID:15465012   PMID:15531465   PMID:15976379   PMID:16344560   PMID:16415354   PMID:16857811  
PMID:16959783   PMID:16968533   PMID:17429902   PMID:17574245   PMID:17597647   PMID:17660803   PMID:18024538   PMID:18246475   PMID:18317237   PMID:18463677   PMID:18603241   PMID:19220077  
PMID:19252731   PMID:19343046   PMID:19861431   PMID:19902402   PMID:20304423   PMID:20371530   PMID:20656946   PMID:20863830   PMID:21165348   PMID:21214890   PMID:21526180   PMID:21586796  
PMID:21873242   PMID:21873635   PMID:22068586   PMID:22145626   PMID:22337229   PMID:22434821   PMID:22455634   PMID:22664934   PMID:22800827   PMID:22866751   PMID:23137377   PMID:23166334  
PMID:23432194   PMID:23443156   PMID:23846195   PMID:24142515   PMID:24145140   PMID:24269975   PMID:24420869   PMID:24628317   PMID:24633979   PMID:24657120   PMID:24730976   PMID:24871971  
PMID:25056761   PMID:25073622   PMID:25406294   PMID:25817392   PMID:26186194   PMID:26295388   PMID:26508177   PMID:26517903   PMID:26522252   PMID:26547207   PMID:26903515   PMID:27177387  
PMID:27352740   PMID:27374344   PMID:27516224   PMID:28241820   PMID:28298427   PMID:28468577   PMID:28514442   PMID:28642621   PMID:28887056   PMID:29255193   PMID:29325094   PMID:29505158  
PMID:29569581   PMID:31210424   PMID:31331098   PMID:31473345   PMID:31871319   PMID:32196812   PMID:32238781   PMID:32532878   PMID:32692933   PMID:32788342   PMID:33818848   PMID:33961781  
PMID:34079125   PMID:34101541   PMID:34186035   PMID:34245068   PMID:34449154   PMID:34465876   PMID:34597626   PMID:34638622   PMID:34715861   PMID:35170262   PMID:35394827   PMID:36324278  


Genomics

Comparative Map Data
ABCA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,275,881 - 2,340,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl162,275,881 - 2,340,746 (-)EnsemblGRCh38hg38GRCh38
GRCh37162,325,882 - 2,390,729 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,265,880 - 2,330,748 (-)NCBINCBI36Build 36hg18NCBI36
Build 34162,265,883 - 2,330,595NCBI
Celera162,540,308 - 2,605,176 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,251,902 - 2,305,693 (-)NCBIHuRef
CHM1_1162,325,836 - 2,390,894 (-)NCBICHM1_1
T2T-CHM13v2.0162,298,327 - 2,363,113 (-)NCBIT2T-CHM13v2.0
Abca3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391724,570,997 - 24,629,178 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1724,570,924 - 24,629,175 (+)EnsemblGRCm39 Ensembl
GRCm381724,351,921 - 24,410,204 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,351,950 - 24,410,201 (+)EnsemblGRCm38mm10GRCm38
MGSCv371724,488,991 - 24,547,146 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,079,646 - 24,137,801 (+)NCBIMGSCv36mm8
Celera1724,865,306 - 24,922,824 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
Abca3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21013,382,439 - 13,439,748 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1013,382,540 - 13,439,745 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,128,894 - 18,186,191 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01017,617,736 - 17,675,035 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01013,116,920 - 13,174,223 (+)NCBIRnor_WKY
Rnor_6.01013,723,365 - 13,780,558 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1013,723,405 - 13,779,963 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01013,539,739 - 13,597,488 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41013,619,865 - 13,665,066 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11013,605,987 - 13,664,059 (+)NCBI
Celera1013,062,889 - 13,120,240 (+)NCBICelera
Cytogenetic Map10q12NCBI
Abca3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544214,933,550 - 14,989,492 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544214,933,550 - 14,989,492 (+)NCBIChiLan1.0ChiLan1.0
ABCA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1162,376,006 - 2,437,427 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl162,376,006 - 2,437,427 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0161,132,435 - 1,196,226 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ABCA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,679,312 - 38,712,868 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,679,324 - 38,712,648 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha639,912,394 - 39,952,493 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0638,981,385 - 39,021,683 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl638,981,033 - 39,021,741 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1638,666,452 - 38,706,734 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0638,638,971 - 38,679,063 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,117,459 - 39,157,746 (+)NCBIUU_Cfam_GSD_1.0
Abca3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,931,363 - 104,975,718 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366941,736,207 - 1,778,116 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049366941,735,206 - 1,778,100 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,698,895 - 39,732,978 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,689,133 - 39,732,466 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2342,433,553 - 42,469,125 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103226816
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.152,171,487 - 2,218,851 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606828,821,142 - 28,886,157 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abca3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462482484,430 - 144,062 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462482485,369 - 144,053 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCA3
424 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001089.3(ABCA3):c.3311T>G (p.Leu1104Arg) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000522996] Chr16:2285614 [GRCh38]
Chr16:2335615 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000008475] Chr16:2285499 [GRCh38]
Chr16:2335500 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.302T>C (p.Leu101Pro) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000008476] Chr16:2326027 [GRCh38]
Chr16:2376028 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000008477] Chr16:2278348 [GRCh38]
Chr16:2328349 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.4772A>C (p.Gln1591Pro) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000008478] Chr16:2278016 [GRCh38]
Chr16:2328017 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000008479] Chr16:2299442 [GRCh38]
Chr16:2349443 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.4909+1G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000008480] Chr16:2277878 [GRCh38]
Chr16:2327879 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000008481]|not specified [RCV000602710] Chr16:2317661 [GRCh38]
Chr16:2367662 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_001089.3(ABCA3):c.3841G>A (p.Ala1281Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002360852]|not provided [RCV000729773] Chr16:2284300 [GRCh38]
Chr16:2334301 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3(chr16:2326840-3487106)x3 copy number gain See cases [RCV000052394] Chr16:2326840..3487106 [GRCh38]
Chr16:2376841..3537106 [GRCh37]
Chr16:2316842..3477107 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_001089.2(ABCA3):c.1878C>A (p.His626Gln) single nucleotide variant Malignant melanoma [RCV000071038] Chr16:2298404 [GRCh38]
Chr16:2348405 [GRCh37]
Chr16:2288406 [NCBI36]
Chr16:16p13.3		 not provided
NM_001089.2(ABCA3):c.4636G>A (p.Asp1546Asn) single nucleotide variant Malignant melanoma [RCV000063001] Chr16:2278370 [GRCh38]
Chr16:2328371 [GRCh37]
Chr16:2268372 [NCBI36]
Chr16:16p13.3		 not provided
NM_001089.3(ABCA3):c.2003G>A (p.Gly668Asp) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001200892]|not provided [RCV000074417] Chr16:2297815 [GRCh38]
Chr16:2347816 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_001089.3(ABCA3):c.2467G>C (p.Ala823Pro) single nucleotide variant not provided [RCV000074418] Chr16:2292186 [GRCh38]
Chr16:2342187 [GRCh37]
Chr16:16p13.3		 not provided
NM_001089.3(ABCA3):c.4322T>C (p.Phe1441Ser) single nucleotide variant not provided [RCV000074419] Chr16:2281064 [GRCh38]
Chr16:2331065 [GRCh37]
Chr16:16p13.3		 not provided
NM_001089.3(ABCA3):c.4822G>T (p.Gly1608Cys) single nucleotide variant not provided [RCV000074420] Chr16:2277966 [GRCh38]
Chr16:2327967 [GRCh37]
Chr16:16p13.3		 not provided
NM_001089.3(ABCA3):c.613G>A (p.Gly205Arg) single nucleotide variant not provided [RCV000074421] Chr16:2323523 [GRCh38]
Chr16:2373524 [GRCh37]
Chr16:16p13.3		 not provided
NM_001089.3(ABCA3):c.4141_4142del (p.Leu1381fs) microsatellite Hereditary pulmonary alveolar proteinosis [RCV002329762]|Interstitial lung disease due to ABCA3 deficiency [RCV001804246] Chr16:2281403..2281404 [GRCh38]
Chr16:2331404..2331405 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.2086G>A (p.Asp696Asn) single nucleotide variant Malignant tumor of prostate [RCV000149044] Chr16:2297506 [GRCh38]
Chr16:2347507 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4984-92C>G single nucleotide variant not provided [RCV001545740] Chr16:2276897 [GRCh38]
Chr16:2326898 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2815C>A (p.Leu939Met) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000515692] Chr16:2288215 [GRCh38]
Chr16:2338216 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1 copy number loss See cases [RCV000142177] Chr16:2304443..2676863 [GRCh38]
Chr16:2354444..2726864 [GRCh37]
Chr16:2294445..2666865 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=) single nucleotide variant not specified [RCV000150110] Chr16:2278338 [GRCh38]
Chr16:2328339 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4617C>T (p.Asp1539=) single nucleotide variant not specified [RCV000150111] Chr16:2278389 [GRCh38]
Chr16:2328390 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001544281]|not provided [RCV002055948]|not specified [RCV000150112] Chr16:2281429 [GRCh38]
Chr16:2331430 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002362785]|Interstitial lung disease due to ABCA3 deficiency [RCV000359917]|not provided [RCV001610456]|not specified [RCV000150113] Chr16:2319773 [GRCh38]
Chr16:2369774 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002415634]|Interstitial lung disease due to ABCA3 deficiency [RCV001117778]|not provided [RCV001775635]|not specified [RCV000150114] Chr16:2297467 [GRCh38]
Chr16:2347468 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.447+11C>T single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002326861]|Interstitial lung disease due to ABCA3 deficiency [RCV000385528]|not provided [RCV002055949]|not specified [RCV000150115] Chr16:2324393 [GRCh38]
Chr16:2374394 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002453478]|Interstitial lung disease due to ABCA3 deficiency [RCV000989468]|not specified [RCV000150116] Chr16:2324484 [GRCh38]
Chr16:2374485 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002426749]|Interstitial lung disease due to ABCA3 deficiency [RCV000394710]|not provided [RCV000895284]|not specified [RCV000155452] Chr16:2297393 [GRCh38]
Chr16:2347394 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002444640]|Interstitial lung disease due to ABCA3 deficiency [RCV001007589]|not provided [RCV000888350]|not specified [RCV000155453] Chr16:2295708 [GRCh38]
Chr16:2345709 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002399549]|Interstitial lung disease due to ABCA3 deficiency [RCV000365741]|not provided [RCV000836744]|not specified [RCV000155454] Chr16:2298527 [GRCh38]
Chr16:2348528 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002399550]|Interstitial lung disease due to ABCA3 deficiency [RCV000348849]|not provided [RCV000836719]|not specified [RCV000155455] Chr16:2317335 [GRCh38]
Chr16:2367336 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1549G>A (p.Glu517Lys) single nucleotide variant not specified [RCV000155456] Chr16:2300067 [GRCh38]
Chr16:2350068 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002390351]|Interstitial lung disease due to ABCA3 deficiency [RCV000758248]|not provided [RCV001517013]|not specified [RCV000155457] Chr16:2300114 [GRCh38]
Chr16:2350115 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.450G>A (p.Val150=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002336330]|Interstitial lung disease due to ABCA3 deficiency [RCV000261757]|not provided [RCV000828279]|not specified [RCV000155458] Chr16:2323686 [GRCh38]
Chr16:2373687 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His) single nucleotide variant not provided [RCV000176045] Chr16:2289459 [GRCh38]
Chr16:2339460 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002372142]|Interstitial lung disease 2 [RCV002284194]|Interstitial lung disease due to ABCA3 deficiency [RCV000185556]|Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies [RCV000615487]|Pulmonary arterial hypertension [RCV000735281]|not provided [RCV000224775] Chr16:2317763 [GRCh38]
Chr16:2367764 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002381741]|Interstitial lung disease due to ABCA3 deficiency [RCV001804948]|Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies [RCV000221771] Chr16:2326201 [GRCh38]
Chr16:2376202 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.-9A>G single nucleotide variant not provided [RCV001577890]|not specified [RCV000222510] Chr16:2326475 [GRCh38]
Chr16:2376476 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002336592]|Interstitial lung disease due to ABCA3 deficiency [RCV000853222]|not provided [RCV000965316]|not specified [RCV000216001] Chr16:2276688 [GRCh38]
Chr16:2326689 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2514-8C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000294928]|not provided [RCV000828280]|not specified [RCV000218875] Chr16:2289628 [GRCh38]
Chr16:2339629 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002444851]|Interstitial lung disease due to ABCA3 deficiency [RCV000850152]|not provided [RCV000514255]|not specified [RCV000219053] Chr16:2319591 [GRCh38]
Chr16:2369592 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001089.3(ABCA3):c.1609_1611+4delinsCCA indel Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies [RCV000215018] Chr16:2300001..2300007 [GRCh38]
Chr16:2350002..2350008 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.990+14C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000403730]|not provided [RCV001682924]|not specified [RCV000216822] Chr16:2317634 [GRCh38]
Chr16:2367635 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002433932]|Interstitial lung disease due to ABCA3 deficiency [RCV000308878]|not provided [RCV001477709]|not specified [RCV000219325] Chr16:2319615 [GRCh38]
Chr16:2369616 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4 copy number gain See cases [RCV000240524] Chr16:2188712..2580690 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2679C>T (p.Thr893=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000282192] Chr16:2289455 [GRCh38]
Chr16:2339456 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3470G>T (p.Ser1157Ile) single nucleotide variant Interstitial lung disease 2 [RCV002284197]|Interstitial lung disease due to ABCA3 deficiency [RCV000283885] Chr16:2285455 [GRCh38]
Chr16:2335456 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002392864]|Interstitial lung disease due to ABCA3 deficiency [RCV000303146]|not provided [RCV002061196] Chr16:2319701 [GRCh38]
Chr16:2369702 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.659G>A (p.Arg220Gln) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000267603]|not provided [RCV002522836] Chr16:2319795 [GRCh38]
Chr16:2369796 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3565G>A (p.Gly1189Ser) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000268556] Chr16:2284917 [GRCh38]
Chr16:2334918 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1183C>T (p.Arg395Trp) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002338905]|Interstitial lung disease due to ABCA3 deficiency [RCV000269298] Chr16:2308552 [GRCh38]
Chr16:2358553 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1584G>A (p.Ala528=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002402031]|Interstitial lung disease due to ABCA3 deficiency [RCV000286488]|not provided [RCV000913907] Chr16:2300032 [GRCh38]
Chr16:2350033 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.-120C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000304988] Chr16:2328546 [GRCh38]
Chr16:2378547 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.2994C>T (p.Arg998=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002436166]|Interstitial lung disease due to ABCA3 deficiency [RCV000287576] Chr16:2288036 [GRCh38]
Chr16:2338037 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002392865]|Interstitial lung disease due to ABCA3 deficiency [RCV000288211]|not provided [RCV000894058] Chr16:2326169 [GRCh38]
Chr16:2376170 [GRCh37]
Chr16:16p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.1750C>T (p.Pro584Ser) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000271240]|not provided [RCV002521001] Chr16:2298532 [GRCh38]
Chr16:2348533 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002365372]|Interstitial lung disease due to ABCA3 deficiency [RCV000272311]|not provided [RCV001556074] Chr16:2284357 [GRCh38]
Chr16:2334358 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.-368G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000289853] Chr16:2329684 [GRCh38]
Chr16:2379685 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.2026G>A (p.Gly676Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002418170]|Interstitial lung disease due to ABCA3 deficiency [RCV000273730] Chr16:2297792 [GRCh38]
Chr16:2347793 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-27+10T>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000291696] Chr16:2328443 [GRCh38]
Chr16:2378444 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.397G>A (p.Val133Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002356430]|Interstitial lung disease due to ABCA3 deficiency [RCV000293579] Chr16:2324454 [GRCh38]
Chr16:2374455 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*192G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000259657] Chr16:2276482 [GRCh38]
Chr16:2326483 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3195G>A (p.Leu1065=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000261153]|not provided [RCV002522832] Chr16:2286777 [GRCh38]
Chr16:2336778 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.3312G>T (p.Leu1104=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000280284] Chr16:2285613 [GRCh38]
Chr16:2335614 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-173C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000299182] Chr16:2328599 [GRCh38]
Chr16:2378600 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002418169]|Interstitial lung disease due to ABCA3 deficiency [RCV000299658]|not provided [RCV000927189] Chr16:2297473 [GRCh38]
Chr16:2347474 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.-236C>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000263839] Chr16:2328662 [GRCh38]
Chr16:2378663 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.822C>T (p.Thr274=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002411209]|Interstitial lung disease due to ABCA3 deficiency [RCV000264434]|not provided [RCV000910691] Chr16:2319632 [GRCh38]
Chr16:2369633 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.448-14C>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000319223]|not provided [RCV001564870]|not specified [RCV000604066] Chr16:2323702 [GRCh38]
Chr16:2373703 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.5023G>A (p.Val1675Met) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000320597] Chr16:2276766 [GRCh38]
Chr16:2326767 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000342493]|not provided [RCV000927188] Chr16:2288234 [GRCh38]
Chr16:2338235 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001089.3(ABCA3):c.4698C>T (p.Ala1566=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002338904]|Interstitial lung disease due to ABCA3 deficiency [RCV000343112] Chr16:2278308 [GRCh38]
Chr16:2328309 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002436167]|Interstitial lung disease due to ABCA3 deficiency [RCV000365922]|not provided [RCV001850686]|not specified [RCV000825854] Chr16:2319616 [GRCh38]
Chr16:2369617 [GRCh37]
Chr16:16p13.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.1896+5del deletion Pulmonary Surfactant Metabolism Dysfunction, Recessive [RCV000270213] Chr16:2298381 [GRCh38]
Chr16:2348382 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1645G>A (p.Val549Ile) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000321663] Chr16:2299499 [GRCh38]
Chr16:2349500 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.873+10C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000344154]|not provided [RCV000915263] Chr16:2319571 [GRCh38]
Chr16:2369572 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001089.3(ABCA3):c.-671T>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000366316] Chr16:2340705 [GRCh38]
Chr16:2390706 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.*312G>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000366835] Chr16:2276362 [GRCh38]
Chr16:2326363 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.3796G>C (p.Glu1266Gln) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000366877] Chr16:2284345 [GRCh38]
Chr16:2334346 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.5080C>T (p.His1694Tyr) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000281868] Chr16:2276709 [GRCh38]
Chr16:2326710 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3540C>T (p.Asp1180=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000323574]|not provided [RCV002522831] Chr16:2284942 [GRCh38]
Chr16:2334943 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002429269]|Interstitial lung disease due to ABCA3 deficiency [RCV000345051]|not provided [RCV000732937] Chr16:2295695 [GRCh38]
Chr16:2345696 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.143C>T (p.Ser48Leu) single nucleotide variant Pulmonary Surfactant Metabolism Dysfunction, Recessive [RCV000345470] Chr16:2326186 [GRCh38]
Chr16:2376187 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-254C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000368946] Chr16:2328680 [GRCh38]
Chr16:2378681 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002446570]|Interstitial lung disease due to ABCA3 deficiency [RCV000394719]|not provided [RCV000953353] Chr16:2295736 [GRCh38]
Chr16:2345737 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.-169G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000395299] Chr16:2328595 [GRCh38]
Chr16:2378596 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002411208]|Interstitial lung disease due to ABCA3 deficiency [RCV000325092]|not provided [RCV000889059] Chr16:2298413 [GRCh38]
Chr16:2348414 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001089.3(ABCA3):c.-331C>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000325022] Chr16:2328757 [GRCh38]
Chr16:2378758 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.4165-14T>C single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002328831]|Interstitial lung disease due to ABCA3 deficiency [RCV000346526]|not provided [RCV002520993] Chr16:2281235 [GRCh38]
Chr16:2331236 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.-67C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000395305] Chr16:2328493 [GRCh38]
Chr16:2378494 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.1336G>A (p.Asp446Asn) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000325317]|Respiratory failure [RCV001824055] Chr16:2304100 [GRCh38]
Chr16:2354101 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.614-9C>T single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002356429]|Interstitial lung disease due to ABCA3 deficiency [RCV000372623]|not provided [RCV000955024] Chr16:2319849 [GRCh38]
Chr16:2369850 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001089.3(ABCA3):c.2616C>T (p.Ser872=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000397018] Chr16:2289518 [GRCh38]
Chr16:2339519 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.846C>T (p.Val282=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000397759] Chr16:2319608 [GRCh38]
Chr16:2369609 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4666A>G (p.Thr1556Ala) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000397835] Chr16:2278340 [GRCh38]
Chr16:2328341 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1417G>A (p.Val473Ile) single nucleotide variant not provided [RCV000312512] Chr16:2304019 [GRCh38]
Chr16:2354020 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3667G>A (p.Ala1223Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002450876]|Interstitial lung disease due to ABCA3 deficiency [RCV000327242] Chr16:2284815 [GRCh38]
Chr16:2334816 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3004+15G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000327320] Chr16:2288011 [GRCh38]
Chr16:2338012 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.5098G>A (p.Ala1700Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002338903]|Interstitial lung disease due to ABCA3 deficiency [RCV000374264]|not provided [RCV002466487] Chr16:2276691 [GRCh38]
Chr16:2326692 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-397C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000328587] Chr16:2329713 [GRCh38]
Chr16:2379714 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1131C>T (p.Phe377=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000329006] Chr16:2308604 [GRCh38]
Chr16:2358605 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002429270]|Interstitial lung disease due to ABCA3 deficiency [RCV000856678]|not provided [RCV000888546] Chr16:2326116 [GRCh38]
Chr16:2376117 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.3335C>G (p.Ala1112Gly) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000374640]|not provided [RCV001859897] Chr16:2285590 [GRCh38]
Chr16:2335591 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4027C>T (p.Arg1343Trp) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002356426]|Interstitial lung disease due to ABCA3 deficiency [RCV000400735]|not provided [RCV002522830] Chr16:2283194 [GRCh38]
Chr16:2333195 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.*278G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000274530] Chr16:2276396 [GRCh38]
Chr16:2326397 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2415-4T>G single nucleotide variant Pulmonary Surfactant Metabolism Dysfunction, Recessive [RCV000308453] Chr16:2292242 [GRCh38]
Chr16:2342243 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-494C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000376207] Chr16:2329810 [GRCh38]
Chr16:2379811 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.*406C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000309861] Chr16:2276268 [GRCh38]
Chr16:2326269 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-253G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000330689] Chr16:2328679 [GRCh38]
Chr16:2378680 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3984G>T (p.Leu1328=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000353813]|not provided [RCV002056482] Chr16:2283237 [GRCh38]
Chr16:2333238 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.-561C>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000403134] Chr16:2340595 [GRCh38]
Chr16:2390596 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.3927C>T (p.Ser1309=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000275878] Chr16:2283294 [GRCh38]
Chr16:2333295 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*268G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000331966] Chr16:2276406 [GRCh38]
Chr16:2326407 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002321992]|Interstitial lung disease due to ABCA3 deficiency [RCV000856675]|not provided [RCV000912676] Chr16:2286765 [GRCh38]
Chr16:2336766 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.75G>A (p.Thr25=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000405307]|not provided [RCV002522837] Chr16:2326254 [GRCh38]
Chr16:2376255 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.3897C>T (p.Ser1299=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002356428]|Interstitial lung disease due to ABCA3 deficiency [RCV000312240] Chr16:2283324 [GRCh38]
Chr16:2333325 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002392863]|Interstitial lung disease due to ABCA3 deficiency [RCV001007603] Chr16:2303971 [GRCh38]
Chr16:2353972 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001089.3(ABCA3):c.-182C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000356063] Chr16:2328608 [GRCh38]
Chr16:2378609 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3602T>A (p.Phe1201Tyr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002450877]|Interstitial lung disease due to ABCA3 deficiency [RCV000381872] Chr16:2284880 [GRCh38]
Chr16:2334881 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3003C>T (p.Leu1001=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000381972] Chr16:2288027 [GRCh38]
Chr16:2338028 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-325G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000276944] Chr16:2328751 [GRCh38]
Chr16:2378752 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002321991]|Interstitial lung disease due to ABCA3 deficiency [RCV000335312]|not provided [RCV001795939] Chr16:2285646 [GRCh38]
Chr16:2335647 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.942C>G (p.Leu314=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002446571]|Interstitial lung disease due to ABCA3 deficiency [RCV000314878] Chr16:2317696 [GRCh38]
Chr16:2367697 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.1897-7G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000314808] Chr16:2297928 [GRCh38]
Chr16:2347929 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2341G>A (p.Val781Met) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000758249] Chr16:2295663 [GRCh38]
Chr16:2345664 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002356427]|Interstitial lung disease due to ABCA3 deficiency [RCV000315299]|not provided [RCV002520994] Chr16:2283209 [GRCh38]
Chr16:2333210 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.3363C>T (p.Ser1121=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000338658] Chr16:2285562 [GRCh38]
Chr16:2335563 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-124C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000361963] Chr16:2328550 [GRCh38]
Chr16:2378551 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*155G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000317318] Chr16:2276519 [GRCh38]
Chr16:2326520 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-29C>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000339514] Chr16:2328455 [GRCh38]
Chr16:2378456 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.1304G>A (p.Arg435Gln) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000340256] Chr16:2304132 [GRCh38]
Chr16:2354133 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.2(ABCA3):c.-711C>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000362600] Chr16:2340745 [GRCh38]
Chr16:2390746 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.-539+9C>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000341535] Chr16:2340564 [GRCh38]
Chr16:2390565 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.2701-33G>C single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001544282]|not provided [RCV001655863] Chr16:2288362 [GRCh38]
Chr16:2338363 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1742-72dup duplication not provided [RCV001546680] Chr16:2298606..2298607 [GRCh38]
Chr16:2348607..2348608 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.614-2A>G single nucleotide variant Pulmonary arterial hypertension [RCV000735347] Chr16:2319842 [GRCh38]
Chr16:2369843 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001269409] Chr16:2297806 [GRCh38]
Chr16:2347807 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1432T>C (p.Phe478Leu) single nucleotide variant Inborn genetic diseases [RCV003097663]|Interstitial lung disease 2 [RCV002284279] Chr16:2304004 [GRCh38]
Chr16:2354005 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1780G>A (p.Gly594Arg) single nucleotide variant Interstitial lung disease 2 [RCV002284280] Chr16:2298502 [GRCh38]
Chr16:2348503 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-670C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000302231] Chr16:2340704 [GRCh38]
Chr16:2390705 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.654G>C (p.Val218=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000315598] Chr16:2319800 [GRCh38]
Chr16:2369801 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*621C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000363633] Chr16:2276053 [GRCh38]
Chr16:2326054 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-356G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000381842] Chr16:2329672 [GRCh38]
Chr16:2379673 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-502C>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000284126] Chr16:2329818 [GRCh38]
Chr16:2379819 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2659C>T (p.Leu887Phe) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000334958] Chr16:2289475 [GRCh38]
Chr16:2339476 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2045G>A (p.Gly682Asp) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000368350] Chr16:2297773 [GRCh38]
Chr16:2347774 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-659C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000406208] Chr16:2340693 [GRCh38]
Chr16:2390694 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.2(ABCA3):c.-697G>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000308091] Chr16:2340731 [GRCh38]
Chr16:2390732 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1897-12del deletion Pulmonary Surfactant Metabolism Dysfunction, Recessive [RCV000369384] Chr16:2297933 [GRCh38]
Chr16:2347934 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4735G>T (p.Ala1579Ser) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000285573] Chr16:2278053 [GRCh38]
Chr16:2328054 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*203T>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000370740] Chr16:2276471 [GRCh38]
Chr16:2326472 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.191A>C (p.Glu64Ala) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000389710] Chr16:2326138 [GRCh38]
Chr16:2376139 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*433C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000408250] Chr16:2276241 [GRCh38]
Chr16:2326242 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-569C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000287062] Chr16:2340603 [GRCh38]
Chr16:2390604 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2316C>A (p.Asp772Glu) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000287836] Chr16:2295688 [GRCh38]
Chr16:2345689 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-673C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000394065] Chr16:2340707 [GRCh38]
Chr16:2390708 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4528A>G (p.Lys1510Glu) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000289197] Chr16:2278962 [GRCh38]
Chr16:2328963 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-577G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000342043] Chr16:2340611 [GRCh38]
Chr16:2390612 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1612-9T>C single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000376038] Chr16:2299541 [GRCh38]
Chr16:2349542 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4896C>G (p.Asp1632Glu) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000377587] Chr16:2277892 [GRCh38]
Chr16:2327893 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3483+10G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000378344] Chr16:2285432 [GRCh38]
Chr16:2335433 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4089C>T (p.Asp1363=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120330] Chr16:2281456 [GRCh38]
Chr16:2331457 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.639C>T (p.Ala213=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002365804]|Interstitial lung disease due to ABCA3 deficiency [RCV001119945] Chr16:2319815 [GRCh38]
Chr16:2369816 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002327400]|Interstitial lung disease due to ABCA3 deficiency [RCV001119947]|not provided [RCV001856572] Chr16:2324433 [GRCh38]
Chr16:2374434 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001089.3(ABCA3):c.1891G>A (p.Ala631Thr) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000625864] Chr16:2298391 [GRCh38]
Chr16:2348392 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs) deletion Hereditary pulmonary alveolar proteinosis [RCV002424755]|Interstitial lung disease due to ABCA3 deficiency [RCV000758240] Chr16:2319633..2319637 [GRCh38]
Chr16:2369634..2369638 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.-423C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120024] Chr16:2329739 [GRCh38]
Chr16:2379740 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-491G>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120027] Chr16:2329807 [GRCh38]
Chr16:2379808 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.689C>T (p.Ala230Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002360855]|not provided [RCV000731191] Chr16:2319765 [GRCh38]
Chr16:2369766 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2854G>A (p.Asp952Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002438533]|not provided [RCV000595332] Chr16:2288176 [GRCh38]
Chr16:2338177 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.385G>A (p.Val129Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002352250]|Interstitial lung disease due to ABCA3 deficiency [RCV002477713]|not provided [RCV000732369] Chr16:2324466 [GRCh38]
Chr16:2374467 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) single nucleotide variant not provided [RCV000894113]|not specified [RCV000734165] Chr16:2317684 [GRCh38]
Chr16:2367685 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.2340C>T (p.His780=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000758237]|not provided [RCV000732940] Chr16:2295664 [GRCh38]
Chr16:2345665 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2213879-2348394)x3 copy number gain See cases [RCV000445898] Chr16:2213879..2348394 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002350435]|Interstitial lung disease due to ABCA3 deficiency [RCV001121934]|not provided [RCV002065192]|not specified [RCV000612210] Chr16:2324480 [GRCh38]
Chr16:2374481 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002331030]|Interstitial lung disease due to ABCA3 deficiency [RCV001118501]|not provided [RCV001518823]|not specified [RCV000615063] Chr16:2279070 [GRCh38]
Chr16:2329071 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=) single nucleotide variant not provided [RCV000947662]|not specified [RCV000609615] Chr16:2288132 [GRCh38]
Chr16:2338133 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2140C>T (p.Arg714Cys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002431820]|not specified [RCV000613309] Chr16:2297452 [GRCh38]
Chr16:2347453 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4165-8G>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002331031]|Interstitial lung disease due to ABCA3 deficiency [RCV001120023]|not provided [RCV000964222]|not specified [RCV000605796] Chr16:2281229 [GRCh38]
Chr16:2331230 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NC_000016.9:g.2127606_2334390dup duplication Endometrial carcinoma [RCV000588521] Chr16:2077605..2284389 [GRCh38]
Chr16:2127606..2334390 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val) single nucleotide variant Neonatal acute respiratory distress due to SP-B deficiency [RCV000714687] Chr16:2308510 [GRCh38]
Chr16:2358511 [GRCh37]
Chr16:16p13.3		 uncertain significance
Single allele duplication not provided [RCV000677977] Chr16:2134202..2527088 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.3200G>A (p.Gly1067Glu) single nucleotide variant Pulmonary arterial hypertension [RCV000735346] Chr16:2286772 [GRCh38]
Chr16:2336773 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.873+84dup duplication Interstitial lung disease due to ABCA3 deficiency [RCV001544284]|not provided [RCV001713015] Chr16:2319484..2319485 [GRCh38]
Chr16:2369485..2369486 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.448-97G>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001544285]|not provided [RCV001615277] Chr16:2323785 [GRCh38]
Chr16:2373786 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.3484-204A>G single nucleotide variant not provided [RCV001546697] Chr16:2285202 [GRCh38]
Chr16:2335203 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001089.3(ABCA3):c.1741+137C>T single nucleotide variant not provided [RCV001693410] Chr16:2299266 [GRCh38]
Chr16:2349267 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.447+119A>G single nucleotide variant not provided [RCV001541877] Chr16:2324285 [GRCh38]
Chr16:2374286 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.639C>A (p.Ala213=) single nucleotide variant not provided [RCV000918555] Chr16:2319815 [GRCh38]
Chr16:2369816 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4547+55A>G single nucleotide variant not provided [RCV001666248] Chr16:2278888 [GRCh38]
Chr16:2328889 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.319+50G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001544469]|not provided [RCV001694083] Chr16:2325960 [GRCh38]
Chr16:2375961 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.3484-138_3484-136del deletion not provided [RCV001707073] Chr16:2285134..2285136 [GRCh38]
Chr16:2335135..2335137 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1111+94G>A single nucleotide variant not provided [RCV001569084] Chr16:2317189 [GRCh38]
Chr16:2367190 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2264-64C>T single nucleotide variant not provided [RCV001707256] Chr16:2295804 [GRCh38]
Chr16:2345805 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.613+167C>T single nucleotide variant not provided [RCV001566643] Chr16:2323356 [GRCh38]
Chr16:2373357 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2448G>A (p.Lys816=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002451326]|Interstitial lung disease due to ABCA3 deficiency [RCV001116225] Chr16:2292205 [GRCh38]
Chr16:2342206 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.-26-251A>G single nucleotide variant not provided [RCV001567036] Chr16:2326743 [GRCh38]
Chr16:2376744 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002327228]|Interstitial lung disease due to ABCA3 deficiency [RCV001007602]|not provided [RCV001862749] Chr16:2324405 [GRCh38]
Chr16:2374406 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.3863-98C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV002246441]|not provided [RCV001583191] Chr16:2283456 [GRCh38]
Chr16:2333457 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.4035+54T>C single nucleotide variant not provided [RCV001583647] Chr16:2283132 [GRCh38]
Chr16:2333133 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2414+203A>G single nucleotide variant not provided [RCV001669102] Chr16:2295387 [GRCh38]
Chr16:2345388 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002372509]|Interstitial lung disease due to ABCA3 deficiency [RCV001007615]|not provided [RCV000884614] Chr16:2324458 [GRCh38]
Chr16:2374459 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002319951]|Interstitial lung disease due to ABCA3 deficiency [RCV000856676]|not provided [RCV000902436] Chr16:2281460 [GRCh38]
Chr16:2331461 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.2354C>A (p.Thr785Lys) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000787036] Chr16:2295650 [GRCh38]
Chr16:2345651 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4944C>T (p.Val1648=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002337009]|Interstitial lung disease due to ABCA3 deficiency [RCV001115347]|not provided [RCV000969917] Chr16:2277636 [GRCh38]
Chr16:2327637 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.1815G>C (p.Arg605=) single nucleotide variant not provided [RCV000976164] Chr16:2298467 [GRCh38]
Chr16:2348468 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4017C>G (p.Leu1339=) single nucleotide variant not provided [RCV000891787] Chr16:2283204 [GRCh38]
Chr16:2333205 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3141C>T (p.Tyr1047=) single nucleotide variant not provided [RCV000937801] Chr16:2286831 [GRCh38]
Chr16:2336832 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002363179]|Interstitial lung disease due to ABCA3 deficiency [RCV001119946]|not provided [RCV001512155]|not specified [RCV000825049] Chr16:2319820 [GRCh38]
Chr16:2369821 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001089.3(ABCA3):c.2053-1G>C single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002415955]|Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies [RCV000826093] Chr16:2297540 [GRCh38]
Chr16:2347541 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.2333A>G (p.His778Arg) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002458406]|Interstitial lung disease due to ABCA3 deficiency [RCV000787027]|not provided [RCV000884883] Chr16:2295671 [GRCh38]
Chr16:2345672 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.2411A>G (p.His804Arg) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000787031] Chr16:2295593 [GRCh38]
Chr16:2345594 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg) single nucleotide variant Disorder of lung [RCV001824065]|Interstitial lung disease due to ABCA3 deficiency [RCV001115431]|not provided [RCV001317105] Chr16:2284869 [GRCh38]
Chr16:2334870 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002418586]|Interstitial lung disease due to ABCA3 deficiency [RCV001119335]|not provided [RCV002558179] Chr16:2297858 [GRCh38]
Chr16:2347859 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_001089.3(ABCA3):c.1313T>C (p.Leu438Pro) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002382244]|Interstitial lung disease due to ABCA3 deficiency [RCV001007604] Chr16:2304123 [GRCh38]
Chr16:2354124 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3241C>T (p.Arg1081Trp) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001117044] Chr16:2286731 [GRCh38]
Chr16:2336732 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2052+7C>T single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002418585]|Interstitial lung disease due to ABCA3 deficiency [RCV001117780] Chr16:2297759 [GRCh38]
Chr16:2347760 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4870C>T (p.Leu1624=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002327397]|Interstitial lung disease due to ABCA3 deficiency [RCV001115349] Chr16:2277918 [GRCh38]
Chr16:2327919 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.-19C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001115350] Chr16:2326485 [GRCh38]
Chr16:2376486 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-66G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001115351] Chr16:2328492 [GRCh38]
Chr16:2378493 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3 copy number gain not provided [RCV000845878] Chr16:2070917..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3242G>A (p.Arg1081Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002320367]|Interstitial lung disease due to ABCA3 deficiency [RCV001115621] Chr16:2286730 [GRCh38]
Chr16:2336731 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2078C>T (p.Ser693Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002418584]|Interstitial lung disease due to ABCA3 deficiency [RCV001117779] Chr16:2297514 [GRCh38]
Chr16:2347515 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2539A>G (p.Met847Val) single nucleotide variant Abnormal pulmonary interstitial morphology [RCV001815023]|Hereditary pulmonary alveolar proteinosis [RCV002429763]|Interstitial lung disease due to ABCA3 deficiency [RCV001116109] Chr16:2289595 [GRCh38]
Chr16:2339596 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4682G>A (p.Arg1561Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002339407]|Interstitial lung disease due to ABCA3 deficiency [RCV001118498] Chr16:2278324 [GRCh38]
Chr16:2328325 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4466G>A (p.Arg1489His) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV000850180] Chr16:2279024 [GRCh38]
Chr16:2329025 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4214C>T (p.Ala1405Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002332575]|Interstitial lung disease due to ABCA3 deficiency [RCV000787034] Chr16:2281172 [GRCh38]
Chr16:2331173 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002429764]|Interstitial lung disease due to ABCA3 deficiency [RCV001116329]|not provided [RCV002069875] Chr16:2297376 [GRCh38]
Chr16:2347377 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.4370G>A (p.Arg1457Gln) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120018]|not provided [RCV001856574] Chr16:2279120 [GRCh38]
Chr16:2329121 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3504C>T (p.Asp1168=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118596] Chr16:2284978 [GRCh38]
Chr16:2334979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2856C>T (p.Asp952=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002436712]|Interstitial lung disease due to ABCA3 deficiency [RCV001120621]|not provided [RCV002556591] Chr16:2288174 [GRCh38]
Chr16:2338175 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.4909+12C>G single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002339404]|Interstitial lung disease due to ABCA3 deficiency [RCV001115348]|not provided [RCV002556266] Chr16:2277867 [GRCh38]
Chr16:2327868 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.-137C>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001115352] Chr16:2328563 [GRCh38]
Chr16:2378564 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1871C>T (p.Ala624Val) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001119337] Chr16:2298411 [GRCh38]
Chr16:2348412 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001169963] Chr16:2297879 [GRCh38]
Chr16:2347880 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.4979C>T (p.Ala1660Val) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001007613] Chr16:2277601 [GRCh38]
Chr16:2327602 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1913G>A (p.Arg638His) single nucleotide variant Interstitial lung disease 2 [RCV002284207]|Interstitial lung disease due to ABCA3 deficiency [RCV000850158] Chr16:2297905 [GRCh38]
Chr16:2347906 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3705T>A (p.Ala1235=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001250563] Chr16:2284436 [GRCh38]
Chr16:2334437 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2534G>A (p.Ser845Asn) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001250562] Chr16:2289600 [GRCh38]
Chr16:2339601 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1595T>C (p.Ile532Thr) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001200888] Chr16:2300021 [GRCh38]
Chr16:2350022 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.5020G>A (p.Gly1674Ser) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001115345] Chr16:2276769 [GRCh38]
Chr16:2326770 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1088T>C (p.Met363Thr) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121828] Chr16:2317306 [GRCh38]
Chr16:2367307 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*8C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121930] Chr16:2276666 [GRCh38]
Chr16:2326667 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.5090C>T (p.Pro1697Leu) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121932] Chr16:2276699 [GRCh38]
Chr16:2326700 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.5038G>A (p.Val1680Met) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121933] Chr16:2276751 [GRCh38]
Chr16:2326752 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1890C>T (p.Tyr630=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002411634]|Interstitial lung disease due to ABCA3 deficiency [RCV001119336] Chr16:2298392 [GRCh38]
Chr16:2348393 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1857C>T (p.Asp619=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002411635]|Interstitial lung disease due to ABCA3 deficiency [RCV001119338] Chr16:2298425 [GRCh38]
Chr16:2348426 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.3234C>T (p.Pro1078=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002320368]|Interstitial lung disease due to ABCA3 deficiency [RCV001117045] Chr16:2286738 [GRCh38]
Chr16:2336739 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.4885dup (p.Ala1629fs) duplication Interstitial lung disease 2 [RCV001171319] Chr16:2277902..2277903 [GRCh38]
Chr16:2327903..2327904 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.4582G>A (p.Ala1528Thr) single nucleotide variant not provided [RCV003127078] Chr16:2278424 [GRCh38]
Chr16:2328425 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4036-298del deletion not provided [RCV001550365] Chr16:2281807 [GRCh38]
Chr16:2331808 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.448-238A>T single nucleotide variant not provided [RCV001609186] Chr16:2323926 [GRCh38]
Chr16:2373927 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.3704-116T>A single nucleotide variant not provided [RCV001686282] Chr16:2284553 [GRCh38]
Chr16:2334554 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.613+40T>G single nucleotide variant not provided [RCV001549833] Chr16:2323483 [GRCh38]
Chr16:2373484 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4984-313C>G single nucleotide variant not provided [RCV001684427] Chr16:2277118 [GRCh38]
Chr16:2327119 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.4548-191C>A single nucleotide variant not provided [RCV001619596] Chr16:2278649 [GRCh38]
Chr16:2328650 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1896+179C>G single nucleotide variant not provided [RCV001608639] Chr16:2298207 [GRCh38]
Chr16:2348208 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.4036-313dup duplication not provided [RCV001557076] Chr16:2281806..2281807 [GRCh38]
Chr16:2331807..2331808 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4719-76C>G single nucleotide variant not provided [RCV001557666] Chr16:2278145 [GRCh38]
Chr16:2328146 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2200G>A (p.Ala734Thr) single nucleotide variant Interstitial lung disease 2 [RCV002284282] Chr16:2297392 [GRCh38]
Chr16:2347393 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3977C>A (p.Thr1326Asn) single nucleotide variant Interstitial lung disease 2 [RCV002284284] Chr16:2283244 [GRCh38]
Chr16:2333245 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1467+71G>C single nucleotide variant not provided [RCV001564274] Chr16:2303898 [GRCh38]
Chr16:2353899 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2264-268G>A single nucleotide variant not provided [RCV001592468] Chr16:2296008 [GRCh38]
Chr16:2346009 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3004+34C>T single nucleotide variant not provided [RCV001715472] Chr16:2287992 [GRCh38]
Chr16:2337993 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1434C>T (p.Phe478=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002390941]|not provided [RCV000930498] Chr16:2304002 [GRCh38]
Chr16:2354003 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1766G>A (p.Arg589Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002400126]|not provided [RCV000972523] Chr16:2298516 [GRCh38]
Chr16:2348517 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.4105C>T (p.Leu1369=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002320111]|not provided [RCV000931187] Chr16:2281440 [GRCh38]
Chr16:2331441 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3166G>A (p.Val1056Ile) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002320078]|not provided [RCV000903799] Chr16:2286806 [GRCh38]
Chr16:2336807 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.2241G>A (p.Ser747=) single nucleotide variant not provided [RCV000887031] Chr16:2297351 [GRCh38]
Chr16:2347352 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4116= (p.Ser1372=) variation not provided [RCV000948967] Chr16:2281429 [GRCh38]
Chr16:2331430 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.2910C>T (p.Phe970=) single nucleotide variant not provided [RCV000940517] Chr16:2288120 [GRCh38]
Chr16:2338121 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.614-198T>A single nucleotide variant not provided [RCV001539504] Chr16:2320038 [GRCh38]
Chr16:2370039 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) microsatellite Hereditary pulmonary alveolar proteinosis [RCV002451619]|Interstitial lung disease due to ABCA3 deficiency [RCV001250543]|not provided [RCV002570425] Chr16:2284871..2284873 [GRCh38]
Chr16:2334872..2334874 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_001089.3(ABCA3):c.4253A>G (p.Asn1418Ser) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120020] Chr16:2281133 [GRCh38]
Chr16:2331134 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1008C>G (p.Ala336=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002451325]|Interstitial lung disease due to ABCA3 deficiency [RCV001115259] Chr16:2317386 [GRCh38]
Chr16:2367387 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.3278A>G (p.Glu1093Gly) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001115620] Chr16:2286694 [GRCh38]
Chr16:2336695 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3231C>T (p.Phe1077=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001117046]|not provided [RCV002275287] Chr16:2286741 [GRCh38]
Chr16:2336742 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.2965G>A (p.Ala989Thr) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001248770] Chr16:2288065 [GRCh38]
Chr16:2338066 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4386G>A (p.Pro1462=) single nucleotide variant not provided [RCV000913086] Chr16:2279104 [GRCh38]
Chr16:2329105 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.5C>A (p.Ala2Asp) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001257124]|not provided [RCV000913469] Chr16:2326462 [GRCh38]
Chr16:2376463 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.-26-213A>G single nucleotide variant not provided [RCV001530710] Chr16:2326705 [GRCh38]
Chr16:2376706 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1742-81_1742-78del microsatellite not provided [RCV001621139] Chr16:2298618..2298621 [GRCh38]
Chr16:2348619..2348622 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1612-173C>T single nucleotide variant not provided [RCV001563482] Chr16:2299705 [GRCh38]
Chr16:2349706 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.991-41C>G single nucleotide variant not provided [RCV001649197] Chr16:2317444 [GRCh38]
Chr16:2367445 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.3279-255A>G single nucleotide variant not provided [RCV001560194] Chr16:2285901 [GRCh38]
Chr16:2335902 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2414+114C>T single nucleotide variant not provided [RCV001555336] Chr16:2295476 [GRCh38]
Chr16:2345477 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.613+97G>T single nucleotide variant not provided [RCV001560724] Chr16:2323426 [GRCh38]
Chr16:2373427 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3863-28G>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002368566]|not provided [RCV001547227] Chr16:2283386 [GRCh38]
Chr16:2333387 [GRCh37]
Chr16:16p13.3		 benign|likely benign
GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3 copy number gain not provided [RCV002473837] Chr16:1942430..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs) duplication Hereditary pulmonary alveolar proteinosis [RCV002391074]|not provided [RCV001008382] Chr16:2300141..2300142 [GRCh38]
Chr16:2350142..2350143 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001089.3(ABCA3):c.991-105C>A single nucleotide variant not provided [RCV001636395] Chr16:2317508 [GRCh38]
Chr16:2367509 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.4983+257G>A single nucleotide variant not provided [RCV001592098] Chr16:2277340 [GRCh38]
Chr16:2327341 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1741+198G>A single nucleotide variant not provided [RCV001716446] Chr16:2299205 [GRCh38]
Chr16:2349206 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.873+246dup duplication not provided [RCV001639634] Chr16:2319329..2319330 [GRCh38]
Chr16:2369330..2369331 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.2514-93A>G single nucleotide variant not provided [RCV001688730] Chr16:2289713 [GRCh38]
Chr16:2339714 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.3484-197C>T single nucleotide variant not provided [RCV001688680] Chr16:2285195 [GRCh38]
Chr16:2335196 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1285+138G>A single nucleotide variant not provided [RCV001655252] Chr16:2308312 [GRCh38]
Chr16:2358313 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1111+58G>A single nucleotide variant not provided [RCV001594207] Chr16:2317225 [GRCh38]
Chr16:2367226 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.991-20C>T single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002386494]|not provided [RCV001656628] Chr16:2317423 [GRCh38]
Chr16:2367424 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.4984-202C>G single nucleotide variant not provided [RCV001613911] Chr16:2277007 [GRCh38]
Chr16:2327008 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.2883C>T (p.Gly961=) single nucleotide variant Interstitial lung disease 2 [RCV001171318] Chr16:2288147 [GRCh38]
Chr16:2338148 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.2172C>G (p.Asp724Glu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002429765]|Interstitial lung disease 2 [RCV002284212]|Interstitial lung disease due to ABCA3 deficiency [RCV001117777] Chr16:2297420 [GRCh38]
Chr16:2347421 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*692C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118412] Chr16:2275982 [GRCh38]
Chr16:2325983 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.824C>T (p.Ala275Val) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118417]|not provided [RCV002069914] Chr16:2319630 [GRCh38]
Chr16:2369631 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.4393G>A (p.Asp1465Asn) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118502]|not provided [RCV001760084] Chr16:2279097 [GRCh38]
Chr16:2329098 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3484-4G>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118597] Chr16:2285002 [GRCh38]
Chr16:2335003 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4206C>G (p.Leu1402=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120021] Chr16:2281180 [GRCh38]
Chr16:2331181 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4171G>A (p.Glu1391Lys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002327401]|Interstitial lung disease due to ABCA3 deficiency [RCV001120022] Chr16:2281215 [GRCh38]
Chr16:2331216 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2011C>T (p.Arg671Cys) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001119334] Chr16:2297807 [GRCh38]
Chr16:2347808 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1143C>G (p.Leu381=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121619] Chr16:2308592 [GRCh38]
Chr16:2358593 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*96T>C single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121929] Chr16:2276578 [GRCh38]
Chr16:2326579 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.265G>A (p.Ala89Thr) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121935] Chr16:2326064 [GRCh38]
Chr16:2376065 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002402509]|Interstitial lung disease due to ABCA3 deficiency [RCV001121350] Chr16:2299457 [GRCh38]
Chr16:2349458 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.1298A>G (p.Gln433Arg) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121524] Chr16:2304138 [GRCh38]
Chr16:2354139 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*154C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121928] Chr16:2276520 [GRCh38]
Chr16:2326521 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4547+154C>T single nucleotide variant not provided [RCV001709317] Chr16:2278789 [GRCh38]
Chr16:2328790 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1742-116T>C single nucleotide variant not provided [RCV001710484] Chr16:2298656 [GRCh38]
Chr16:2348657 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.-457C>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120025] Chr16:2329773 [GRCh38]
Chr16:2379774 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.-463G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120026] Chr16:2329779 [GRCh38]
Chr16:2379780 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3279-4G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120135] Chr16:2285650 [GRCh38]
Chr16:2335651 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.320-322C>T single nucleotide variant not provided [RCV001588642] Chr16:2324853 [GRCh38]
Chr16:2374854 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3278+301A>G single nucleotide variant not provided [RCV001667135] Chr16:2286393 [GRCh38]
Chr16:2336394 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1285+253del deletion not provided [RCV001533847] Chr16:2308197 [GRCh38]
Chr16:2358198 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.2264-17G>A single nucleotide variant not provided [RCV001589818] Chr16:2295757 [GRCh38]
Chr16:2345758 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.3862+117G>T single nucleotide variant not provided [RCV001612454] Chr16:2284162 [GRCh38]
Chr16:2334163 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1408A>C (p.Met470Leu) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001089947] Chr16:2304028 [GRCh38]
Chr16:2354029 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1741+33A>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001544283]|not provided [RCV001615276] Chr16:2299370 [GRCh38]
Chr16:2349371 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.2053-65G>A single nucleotide variant not provided [RCV001545980] Chr16:2297604 [GRCh38]
Chr16:2347605 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.991-84G>A single nucleotide variant not provided [RCV001586185] Chr16:2317487 [GRCh38]
Chr16:2367488 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.873+172G>A single nucleotide variant not provided [RCV001539298] Chr16:2319409 [GRCh38]
Chr16:2369410 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.3483+32C>T single nucleotide variant not provided [RCV001645395] Chr16:2285410 [GRCh38]
Chr16:2335411 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.2264-104T>G single nucleotide variant not provided [RCV001566830] Chr16:2295844 [GRCh38]
Chr16:2345845 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.873+310C>A single nucleotide variant not provided [RCV001609301] Chr16:2319271 [GRCh38]
Chr16:2369272 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1232C>A (p.Ser411Tyr) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001002783] Chr16:2308503 [GRCh38]
Chr16:2358504 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*289G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001119943] Chr16:2276385 [GRCh38]
Chr16:2326386 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*267C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001119944] Chr16:2276407 [GRCh38]
Chr16:2326408 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4359+14G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001120019] Chr16:2281013 [GRCh38]
Chr16:2331014 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1127C>T (p.Ala376Val) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001250536] Chr16:2308608 [GRCh38]
Chr16:2358609 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*379C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118416] Chr16:2276295 [GRCh38]
Chr16:2326296 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.762C>A (p.Pro254=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118418] Chr16:2319692 [GRCh38]
Chr16:2369693 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3583C>G (p.Leu1195Val) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118595] Chr16:2284899 [GRCh38]
Chr16:2334900 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*689G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118413] Chr16:2275985 [GRCh38]
Chr16:2325986 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*625A>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118414] Chr16:2276049 [GRCh38]
Chr16:2326050 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.*447C>T single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118415] Chr16:2276227 [GRCh38]
Chr16:2326228 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.747G>A (p.Pro249=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118419] Chr16:2319707 [GRCh38]
Chr16:2369708 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4495C>T (p.Leu1499=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118500] Chr16:2278995 [GRCh38]
Chr16:2328996 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002436711]|Interstitial lung disease 2 [RCV002284213]|Interstitial lung disease due to ABCA3 deficiency [RCV001118678]|not provided [RCV001532313] Chr16:2288173 [GRCh38]
Chr16:2338174 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.3228C>G (p.Asn1076Lys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002321996]|Interstitial lung disease due to ABCA3 deficiency [RCV001200876] Chr16:2286744 [GRCh38]
Chr16:2336745 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002436774]|Interstitial lung disease due to ABCA3 deficiency [RCV001200877] Chr16:2288150 [GRCh38]
Chr16:2338151 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001089.3(ABCA3):c.1497G>A (p.Ala499=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121351] Chr16:2300119 [GRCh38]
Chr16:2350120 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4964G>A (p.Arg1655His) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001115346] Chr16:2277616 [GRCh38]
Chr16:2327617 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002429762]|Interstitial lung disease due to ABCA3 deficiency [RCV001116108]|not provided [RCV002069869] Chr16:2289520 [GRCh38]
Chr16:2339521 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4642G>A (p.Val1548Met) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001118499] Chr16:2278364 [GRCh38]
Chr16:2328365 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002354918]|Interstitial lung disease due to ABCA3 deficiency [RCV001007596] Chr16:2283248 [GRCh38]
Chr16:2333249 [GRCh37]
Chr16:16p13.3		 likely pathogenic|uncertain significance
NM_001089.3(ABCA3):c.*738C>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001115258] Chr16:2275936 [GRCh38]
Chr16:2325937 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4547+3G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001200885] Chr16:2278940 [GRCh38]
Chr16:2328941 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.*1G>A single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001121931] Chr16:2276673 [GRCh38]
Chr16:2326674 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3118G>A (p.Ala1040Thr) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001117047] Chr16:2286854 [GRCh38]
Chr16:2336855 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.447+8G>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002327607]|Interstitial lung disease due to ABCA3 deficiency [RCV001254625]|not provided [RCV002069350] Chr16:2324396 [GRCh38]
Chr16:2374397 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.3677T>C (p.Leu1226Pro) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001255702] Chr16:2284805 [GRCh38]
Chr16:2334806 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.233G>C (p.Trp78Ser) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001265593] Chr16:2326096 [GRCh38]
Chr16:2376097 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.59G>T (p.Arg20Leu) single nucleotide variant Interstitial lung disease 2 [RCV002284278] Chr16:2326270 [GRCh38]
Chr16:2376271 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4797G>C (p.Gln1599His) single nucleotide variant Interstitial lung disease 2 [RCV002284286] Chr16:2277991 [GRCh38]
Chr16:2327992 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.3905G>A (p.Gly1302Glu) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001260995] Chr16:2283316 [GRCh38]
Chr16:2333317 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.1136G>A (p.Gly379Asp) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001257422] Chr16:2308599 [GRCh38]
Chr16:2358600 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2173G>A (p.Glu725Lys) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001332803]|not provided [RCV002546598] Chr16:2297419 [GRCh38]
Chr16:2347420 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.873+179C>T single nucleotide variant not provided [RCV001575641] Chr16:2319402 [GRCh38]
Chr16:2369403 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_2098597)_(2550979_?)dup duplication Developmental and epileptic encephalopathy, 1 [RCV001308310] Chr16:2098597..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4100G>A (p.Arg1367His) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002322265]|Interstitial lung disease due to ABCA3 deficiency [RCV001336177] Chr16:2281445 [GRCh38]
Chr16:2331446 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3633G>A (p.Thr1211=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001290365]|not provided [RCV001871734] Chr16:2284849 [GRCh38]
Chr16:2334850 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.1819A>G (p.Ser607Gly) single nucleotide variant Interstitial lung disease 2 [RCV002284281] Chr16:2298463 [GRCh38]
Chr16:2348464 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4451G>A (p.Arg1484Gln) single nucleotide variant Inborn genetic diseases [RCV003097664]|Interstitial lung disease 2 [RCV002284285]|not provided [RCV003097665] Chr16:2279039 [GRCh38]
Chr16:2329040 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3659C>A (p.Ser1220Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 3 [RCV001336176] Chr16:2284823 [GRCh38]
Chr16:2334824 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.1814G>A (p.Arg605Gln) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001269408] Chr16:2298468 [GRCh38]
Chr16:2348469 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002339709]|Interstitial lung disease due to ABCA3 deficiency [RCV001283781] Chr16:2278945 [GRCh38]
Chr16:2328946 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.1285+274G>A single nucleotide variant not provided [RCV001619375] Chr16:2308176 [GRCh38]
Chr16:2358177 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.59G>A (p.Arg20Gln) single nucleotide variant not provided [RCV001532314] Chr16:2326270 [GRCh38]
Chr16:2376271 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1742-240T>C single nucleotide variant not provided [RCV001679997] Chr16:2298780 [GRCh38]
Chr16:2348781 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.874-113G>A single nucleotide variant not provided [RCV001687572] Chr16:2317877 [GRCh38]
Chr16:2367878 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1742-279C>G single nucleotide variant not provided [RCV001615880] Chr16:2298819 [GRCh38]
Chr16:2348820 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.4360-130G>A single nucleotide variant not provided [RCV001614455] Chr16:2279260 [GRCh38]
Chr16:2329261 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1112-136C>T single nucleotide variant not provided [RCV001654797] Chr16:2308759 [GRCh38]
Chr16:2358760 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1612-227C>A single nucleotide variant not provided [RCV001685148] Chr16:2299759 [GRCh38]
Chr16:2349760 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs) microsatellite Hereditary pulmonary alveolar proteinosis [RCV002404896]|not provided [RCV001380234] Chr16:2299414..2299415 [GRCh38]
Chr16:2349415..2349416 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.54+51C>T single nucleotide variant not provided [RCV001774853] Chr16:2326362 [GRCh38]
Chr16:2376363 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.320-80G>T single nucleotide variant not provided [RCV001774854] Chr16:2324611 [GRCh38]
Chr16:2374612 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.447+200C>T single nucleotide variant not provided [RCV001774855] Chr16:2324204 [GRCh38]
Chr16:2374205 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3997_3998del (p.Arg1333fs) deletion Hereditary pulmonary alveolar proteinosis [RCV002370306]|not provided [RCV001768120] Chr16:2283223..2283224 [GRCh38]
Chr16:2333224..2333225 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.2264-39G>A single nucleotide variant not provided [RCV001785979] Chr16:2295779 [GRCh38]
Chr16:2345780 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2041G>A (p.Ala681Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002422862]|Interstitial lung disease due to ABCA3 deficiency [RCV001801324] Chr16:2297777 [GRCh38]
Chr16:2347778 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2704G>A (p.Ala902Thr) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV002489823]|not provided [RCV001776324] Chr16:2288326 [GRCh38]
Chr16:2338327 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1286-2A>G single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001780570] Chr16:2304152 [GRCh38]
Chr16:2354153 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.161C>T (p.Ala54Val) single nucleotide variant not provided [RCV001768290] Chr16:2326168 [GRCh38]
Chr16:2376169 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1600C>T (p.His534Tyr) single nucleotide variant not provided [RCV001768334] Chr16:2300016 [GRCh38]
Chr16:2350017 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4067C>T (p.Pro1356Leu) single nucleotide variant not provided [RCV001794836] Chr16:2281478 [GRCh38]
Chr16:2331479 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4360-40C>T single nucleotide variant not provided [RCV001762868] Chr16:2279170 [GRCh38]
Chr16:2329171 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.873+110G>T single nucleotide variant not provided [RCV001776909] Chr16:2319471 [GRCh38]
Chr16:2369472 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1363A>G (p.Met455Val) single nucleotide variant not provided [RCV001757687] Chr16:2304073 [GRCh38]
Chr16:2354074 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.614-298C>T single nucleotide variant not provided [RCV001797283] Chr16:2320138 [GRCh38]
Chr16:2370139 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.-2C>T single nucleotide variant not provided [RCV001753325] Chr16:2326468 [GRCh38]
Chr16:2376469 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.873+100T>A single nucleotide variant not provided [RCV001757768] Chr16:2319481 [GRCh38]
Chr16:2369482 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.320-230A>G single nucleotide variant not provided [RCV001810359] Chr16:2324761 [GRCh38]
Chr16:2374762 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4868C>T (p.Ala1623Val) single nucleotide variant Heart, malformation of [RCV001825340]|Hereditary pulmonary alveolar proteinosis [RCV002334716] Chr16:2277920 [GRCh38]
Chr16:2327921 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3145T>C (p.Ser1049Pro) single nucleotide variant not provided [RCV002025879] Chr16:2286827 [GRCh38]
Chr16:2336828 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.1742-83_1742-78del deletion not provided [RCV001847417] Chr16:2298618..2298623 [GRCh38]
Chr16:2348619..2348624 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 copy number gain not provided [RCV001827737] Chr16:1830141..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1847662-2653144) copy number gain not specified [RCV002052502] Chr16:1847662..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3313C>T (p.Leu1105Phe) single nucleotide variant not provided [RCV001895613] Chr16:2285612 [GRCh38]
Chr16:2335613 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2605G>T (p.Ala869Ser) single nucleotide variant not provided [RCV001984490] Chr16:2289529 [GRCh38]
Chr16:2339530 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3322del (p.Met1108fs) deletion not provided [RCV001965026] Chr16:2285603 [GRCh38]
Chr16:2335604 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.2776G>T (p.Val926Leu) single nucleotide variant not provided [RCV001965609] Chr16:2288254 [GRCh38]
Chr16:2338255 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3235C>T (p.Gln1079Ter) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV001844304] Chr16:2286737 [GRCh38]
Chr16:2336738 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.3497C>T (p.Ala1166Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002458854]|not provided [RCV001965449] Chr16:2284985 [GRCh38]
Chr16:2334986 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3386A>G (p.His1129Arg) single nucleotide variant not provided [RCV001979385] Chr16:2285539 [GRCh38]
Chr16:2335540 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2141G>A (p.Arg714His) single nucleotide variant not provided [RCV002017492] Chr16:2297451 [GRCh38]
Chr16:2347452 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2032G>A (p.Ala678Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002423034]|not provided [RCV001925634] Chr16:2297786 [GRCh38]
Chr16:2347787 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2434A>G (p.Lys812Glu) single nucleotide variant not provided [RCV001879203] Chr16:2292219 [GRCh38]
Chr16:2342220 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2414+4C>T single nucleotide variant not provided [RCV001960822] Chr16:2295586 [GRCh38]
Chr16:2345587 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4990G>C (p.Gly1664Arg) single nucleotide variant not provided [RCV001960827] Chr16:2276799 [GRCh38]
Chr16:2326800 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1106G>A (p.Ser369Asn) single nucleotide variant not provided [RCV001934882] Chr16:2317288 [GRCh38]
Chr16:2367289 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2264-2A>G single nucleotide variant not provided [RCV001994792] Chr16:2295742 [GRCh38]
Chr16:2345743 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.3865A>G (p.Ile1289Val) single nucleotide variant not provided [RCV001938496] Chr16:2283356 [GRCh38]
Chr16:2333357 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4149C>G (p.Ile1383Met) single nucleotide variant not provided [RCV001991404] Chr16:2281396 [GRCh38]
Chr16:2331397 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1042G>A (p.Ala348Thr) single nucleotide variant not provided [RCV002019583] Chr16:2317352 [GRCh38]
Chr16:2367353 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2309C>A (p.Pro770Gln) single nucleotide variant not provided [RCV001903105] Chr16:2295695 [GRCh38]
Chr16:2345696 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4694A>G (p.Lys1565Arg) single nucleotide variant not provided [RCV001877986] Chr16:2278312 [GRCh38]
Chr16:2328313 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2741A>C (p.Lys914Thr) single nucleotide variant not provided [RCV002015840] Chr16:2288289 [GRCh38]
Chr16:2338290 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4271C>T (p.Thr1424Met) single nucleotide variant not provided [RCV002046457] Chr16:2281115 [GRCh38]
Chr16:2331116 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1672G>A (p.Glu558Lys) single nucleotide variant not provided [RCV002013978] Chr16:2299472 [GRCh38]
Chr16:2349473 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1373T>G (p.Leu458Arg) single nucleotide variant not provided [RCV002026694] Chr16:2304063 [GRCh38]
Chr16:2354064 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2282C>G (p.Thr761Arg) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002443060]|not provided [RCV002026938] Chr16:2295722 [GRCh38]
Chr16:2345723 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3112G>A (p.Val1038Ile) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002324511]|not provided [RCV002050425] Chr16:2286860 [GRCh38]
Chr16:2336861 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3505G>A (p.Val1169Met) single nucleotide variant not provided [RCV001939924] Chr16:2284977 [GRCh38]
Chr16:2334978 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2809G>A (p.Val937Ile) single nucleotide variant not provided [RCV001899019] Chr16:2288221 [GRCh38]
Chr16:2338222 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.622C>T (p.Arg208Trp) single nucleotide variant not provided [RCV002030845] Chr16:2319832 [GRCh38]
Chr16:2369833 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.2598C>T (p.Ser866=) single nucleotide variant not provided [RCV002087444] Chr16:2289536 [GRCh38]
Chr16:2339537 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1989C>A (p.Arg663=) single nucleotide variant not provided [RCV002085802] Chr16:2297829 [GRCh38]
Chr16:2347830 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1548C>T (p.Asn516=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002400385]|not provided [RCV002191165] Chr16:2300068 [GRCh38]
Chr16:2350069 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.825G>A (p.Ala275=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002427522]|not provided [RCV002089487] Chr16:2319629 [GRCh38]
Chr16:2369630 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3928A>G (p.Met1310Val) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV002074472] Chr16:2283293 [GRCh38]
Chr16:2333294 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1112-7C>T single nucleotide variant not provided [RCV002205547] Chr16:2308630 [GRCh38]
Chr16:2358631 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1741+13C>G single nucleotide variant not provided [RCV002173011] Chr16:2299390 [GRCh38]
Chr16:2349391 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.613+14T>C single nucleotide variant not provided [RCV002150626] Chr16:2323509 [GRCh38]
Chr16:2373510 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4710C>G (p.Thr1570=) single nucleotide variant not provided [RCV002145079] Chr16:2278296 [GRCh38]
Chr16:2328297 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4909+15C>T single nucleotide variant not provided [RCV002129143] Chr16:2277864 [GRCh38]
Chr16:2327865 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4716C>T (p.His1572=) single nucleotide variant not provided [RCV002171117] Chr16:2278290 [GRCh38]
Chr16:2328291 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3309C>T (p.Asn1103=) single nucleotide variant not provided [RCV002116520] Chr16:2285616 [GRCh38]
Chr16:2335617 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1029C>T (p.Pro343=) single nucleotide variant not provided [RCV002122142] Chr16:2317365 [GRCh38]
Chr16:2367366 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.613+18G>T single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002352902]|not provided [RCV002118812] Chr16:2323505 [GRCh38]
Chr16:2373506 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.320-17G>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002325650]|not provided [RCV002084499] Chr16:2324548 [GRCh38]
Chr16:2374549 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.2415-4T>A single nucleotide variant not provided [RCV002217056] Chr16:2292242 [GRCh38]
Chr16:2342243 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.765C>T (p.Phe255=) single nucleotide variant not provided [RCV002083972] Chr16:2319689 [GRCh38]
Chr16:2369690 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.5097C>T (p.Thr1699=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002337191]|not provided [RCV002181996] Chr16:2276692 [GRCh38]
Chr16:2326693 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2148C>T (p.Ile716=) single nucleotide variant Interstitial lung disease due to ABCA3 deficiency [RCV002494138]|not provided [RCV002219739] Chr16:2297444 [GRCh38]
Chr16:2347445 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.5022C>T (p.Gly1674=) single nucleotide variant not provided [RCV002119199] Chr16:2276767 [GRCh38]
Chr16:2326768 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4165-7C>T single nucleotide variant not provided [RCV002162835] Chr16:2281228 [GRCh38]
Chr16:2331229 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4119G>A (p.Pro1373=) single nucleotide variant not provided [RCV002135367] Chr16:2281426 [GRCh38]
Chr16:2331427 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4984-7C>T single nucleotide variant not provided [RCV002097820] Chr16:2276812 [GRCh38]
Chr16:2326813 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.705C>T (p.Phe235=) single nucleotide variant not provided [RCV002081474] Chr16:2319749 [GRCh38]
Chr16:2369750 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2263+20C>T single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002443262]|not provided [RCV002184010] Chr16:2297309 [GRCh38]
Chr16:2347310 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_001089.3(ABCA3):c.3018G>A (p.Glu1006=) single nucleotide variant not provided [RCV002159216] Chr16:2286954 [GRCh38]
Chr16:2336955 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1218C>T (p.Cys406_Ser407=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002366449] Chr16:2308517 [GRCh38]
Chr16:2358518 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3742G>A (p.Val1248Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002349247] Chr16:2284399 [GRCh38]
Chr16:2334400 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1009G>A (p.Val337Met) single nucleotide variant Pulmonary lymphangiectasia [RCV002287735] Chr16:2317385 [GRCh38]
Chr16:2367386 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1722C>T (p.Thr574_Thr575=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002400416]|not provided [RCV002286258] Chr16:2299422 [GRCh38]
Chr16:2349423 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.3534G>A (p.Met1178Ile) single nucleotide variant Inborn genetic diseases [RCV003096139]|Interstitial lung disease due to ABCA3 deficiency [RCV002272838] Chr16:2284948 [GRCh38]
Chr16:2334949 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4165-70G>A single nucleotide variant not provided [RCV002286246] Chr16:2281291 [GRCh38]
Chr16:2331292 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3617C>T (p.Ala1206Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002454614]|Interstitial lung disease due to ABCA3 deficiency [RCV002286363] Chr16:2284865 [GRCh38]
Chr16:2334866 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1988G>A (p.Arg663His) single nucleotide variant not provided [RCV002292151] Chr16:2297830 [GRCh38]
Chr16:2347831 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1000A>C (p.Asn334His) single nucleotide variant Inborn genetic diseases [RCV003096326]|not provided [RCV002281356] Chr16:2317394 [GRCh38]
Chr16:2367395 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2053-23C>T single nucleotide variant not provided [RCV002285735] Chr16:2297562 [GRCh38]
Chr16:2347563 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.542C>T (p.Thr181Ile) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002349544] Chr16:2323594 [GRCh38]
Chr16:2373595 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.366C>T (p.Tyr122_Asp123=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002452638] Chr16:2324485 [GRCh38]
Chr16:2374486 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2041G>T (p.Ala681Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002419947] Chr16:2297777 [GRCh38]
Chr16:2347778 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2691C>G (p.Leu897_Asn898=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002453195] Chr16:2289443 [GRCh38]
Chr16:2339444 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1962G>A (p.Leu654_Glu655=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002421776] Chr16:2297856 [GRCh38]
Chr16:2347857 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002385293] Chr16:2326202 [GRCh38]
Chr16:2376203 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.5110C>T (p.Arg1704Ter) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002351507] Chr16:2276679 [GRCh38]
Chr16:2326680 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3659C>T (p.Ser1220Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002452520] Chr16:2284823 [GRCh38]
Chr16:2334824 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2901C>T (p.Val967_Val968=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002438085] Chr16:2288129 [GRCh38]
Chr16:2338130 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1959C>T (p.Gly653_Leu654=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002421675] Chr16:2297859 [GRCh38]
Chr16:2347860 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2665GAG[2] (p.Glu891del) microsatellite Hereditary pulmonary alveolar proteinosis [RCV002437288] Chr16:2289461..2289463 [GRCh38]
Chr16:2339462..2339464 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1956C>T (p.Ile652_Gly653=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002421619] Chr16:2297862 [GRCh38]
Chr16:2347863 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.629G>T (p.Gly210Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002368765] Chr16:2319825 [GRCh38]
Chr16:2369826 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.4915G>A (p.Val1639Ile) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002351231] Chr16:2277665 [GRCh38]
Chr16:2327666 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1221C>T (p.Ser407_Cys408=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002369129] Chr16:2308514 [GRCh38]
Chr16:2358515 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2514-17T>C single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002434942] Chr16:2289637 [GRCh38]
Chr16:2339638 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3862+4A>T single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002366240] Chr16:2284275 [GRCh38]
Chr16:2334276 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3703+17C>G single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002348942] Chr16:2284762 [GRCh38]
Chr16:2334763 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.80T>C (p.Leu27Pro) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002419487] Chr16:2326249 [GRCh38]
Chr16:2376250 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3889G>A (p.Ala1297Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002366344] Chr16:2283332 [GRCh38]
Chr16:2333333 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2643C>T (p.Ser881_Asp882=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002453003] Chr16:2289491 [GRCh38]
Chr16:2339492 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2889C>T (p.Tyr963_Gly964=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002437874] Chr16:2288141 [GRCh38]
Chr16:2338142 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.743C>T (p.Pro248Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002385062]|not provided [RCV003103402] Chr16:2319711 [GRCh38]
Chr16:2369712 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_001089.3(ABCA3):c.1704C>T (p.Asn568_Gly569=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002414723] Chr16:2299440 [GRCh38]
Chr16:2349441 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1806T>C (p.Val602_Gln603=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002410082] Chr16:2298476 [GRCh38]
Chr16:2348477 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4326C>T (p.Val1442_Gly1443=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002332068] Chr16:2281060 [GRCh38]
Chr16:2331061 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4374C>T (p.Ile1458_Gly1459=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002333529] Chr16:2279116 [GRCh38]
Chr16:2329117 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3118G>C (p.Ala1040Pro) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002320452] Chr16:2286854 [GRCh38]
Chr16:2336855 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1731C>T (p.Ser577_Met578=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002399188] Chr16:2299413 [GRCh38]
Chr16:2349414 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2749G>A (p.Ala917Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002439328] Chr16:2288281 [GRCh38]
Chr16:2338282 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.276C>T (p.Thr92_Val93=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002439593] Chr16:2326053 [GRCh38]
Chr16:2376054 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1063A>C (p.Ile355Leu) single nucleotide variant not provided [RCV002304108] Chr16:2317331 [GRCh38]
Chr16:2367332 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.724A>G (p.Ile242Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002371091] Chr16:2319730 [GRCh38]
Chr16:2369731 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3283C>T (p.Arg1095Trp) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002325076] Chr16:2285642 [GRCh38]
Chr16:2335643 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2495T>C (p.Met832Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002430997] Chr16:2292158 [GRCh38]
Chr16:2342159 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1444C>T (p.Gln482Ter) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002394426] Chr16:2303992 [GRCh38]
Chr16:2353993 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.4503C>A (p.Gly1501_Leu1502=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002328711] Chr16:2278987 [GRCh38]
Chr16:2328988 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1742-10T>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002401418] Chr16:2298550 [GRCh38]
Chr16:2348551 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2341G>C (p.Val781Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002428521] Chr16:2295663 [GRCh38]
Chr16:2345664 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1240G>A (p.Ala414Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002380078] Chr16:2308495 [GRCh38]
Chr16:2358496 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.2952G>A (p.Glu984_His985=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002441885] Chr16:2288078 [GRCh38]
Chr16:2338079 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002333802] Chr16:2324411 [GRCh38]
Chr16:2374412 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.873G>A (p.Lys291_Glu292=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002373527] Chr16:2319581 [GRCh38]
Chr16:2369582 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.441G>A (p.Pro147_Leu148=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002333887] Chr16:2324410 [GRCh38]
Chr16:2374411 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1365G>A (p.Met455Ile) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002383583] Chr16:2304071 [GRCh38]
Chr16:2354072 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4052G>A (p.Arg1351Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002321299] Chr16:2281493 [GRCh38]
Chr16:2331494 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1302G>A (p.Trp434Ter) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002380880] Chr16:2304134 [GRCh38]
Chr16:2354135 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.4477G>T (p.Ala1493Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002328515] Chr16:2279013 [GRCh38]
Chr16:2329014 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3048G>A (p.Gly1016_Gly1017=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002444054] Chr16:2286924 [GRCh38]
Chr16:2336925 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3284G>A (p.Arg1095Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002325078] Chr16:2285641 [GRCh38]
Chr16:2335642 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.687C>T (p.Ala229_Ala230=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002378013] Chr16:2319767 [GRCh38]
Chr16:2369768 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.951C>T (p.Leu317_Ile318=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002374204] Chr16:2317687 [GRCh38]
Chr16:2367688 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3057dup (p.Asn1020Ter) duplication Hereditary pulmonary alveolar proteinosis [RCV002444155] Chr16:2286914..2286915 [GRCh38]
Chr16:2336915..2336916 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.2092A>C (p.Ile698Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002424059] Chr16:2297500 [GRCh38]
Chr16:2347501 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.144G>A (p.Ser48_Glu49=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002394561] Chr16:2326185 [GRCh38]
Chr16:2376186 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.820A>G (p.Thr274Ala) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002427956] Chr16:2319634 [GRCh38]
Chr16:2369635 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2740AAG[1] (p.Lys915del) microsatellite Hereditary pulmonary alveolar proteinosis [RCV002439270] Chr16:2288285..2288287 [GRCh38]
Chr16:2338286..2338288 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.95C>T (p.Pro32Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002374352]|not provided [RCV003103593] Chr16:2326234 [GRCh38]
Chr16:2376235 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3525C>T (p.Asp1175_Gly1176=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002459354] Chr16:2284957 [GRCh38]
Chr16:2334958 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1435G>A (p.Gly479Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002392165] Chr16:2304001 [GRCh38]
Chr16:2354002 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1455C>A (p.Tyr485Ter) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002394687] Chr16:2303981 [GRCh38]
Chr16:2353982 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.4547G>A (p.Ser1516Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002340132] Chr16:2278943 [GRCh38]
Chr16:2328944 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3903G>A (p.Pro1301_Gly1302=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002357478] Chr16:2283318 [GRCh38]
Chr16:2333319 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3198C>T (p.Cys1066_Gly1067=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002322919] Chr16:2286774 [GRCh38]
Chr16:2336775 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3933C>T (p.Ala1311_Ala1312=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002357564] Chr16:2283288 [GRCh38]
Chr16:2333289 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3483+15G>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002457382] Chr16:2285427 [GRCh38]
Chr16:2335428 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3138G>A (p.Ala1046_Tyr1047=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002320669] Chr16:2286834 [GRCh38]
Chr16:2336835 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2517C>T (p.Val839_Gly840=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002433002] Chr16:2289617 [GRCh38]
Chr16:2339618 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3247G>A (p.Ala1083Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002324841] Chr16:2286725 [GRCh38]
Chr16:2336726 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.158A>G (p.Asn53Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002398388] Chr16:2326171 [GRCh38]
Chr16:2376172 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.955G>A (p.Ala319Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002374304] Chr16:2317683 [GRCh38]
Chr16:2367684 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1383G>A (p.Val461_Leu462=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002381216] Chr16:2304053 [GRCh38]
Chr16:2354054 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.5052G>A (p.Ser1684_Leu1685=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002335744] Chr16:2276737 [GRCh38]
Chr16:2326738 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.5053C>G (p.Leu1685Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002335748] Chr16:2276736 [GRCh38]
Chr16:2326737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4244T>C (p.Leu1415Pro) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002329800] Chr16:2281142 [GRCh38]
Chr16:2331143 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3604T>G (p.Phe1202Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002455257] Chr16:2284878 [GRCh38]
Chr16:2334879 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1455C>G (p.Tyr485Ter) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002394688] Chr16:2303981 [GRCh38]
Chr16:2353982 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.2061A>G (p.Ile687Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002421978] Chr16:2297531 [GRCh38]
Chr16:2347532 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.74C>T (p.Thr25Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002391613] Chr16:2326255 [GRCh38]
Chr16:2376256 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.598G>T (p.Asp200Tyr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002357886] Chr16:2323538 [GRCh38]
Chr16:2373539 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4212C>T (p.Leu1404_Ala1405=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002327970] Chr16:2281174 [GRCh38]
Chr16:2331175 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3815G>A (p.Arg1272Lys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002355276] Chr16:2284326 [GRCh38]
Chr16:2334327 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3304C>T (p.Leu1102Phe) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002326241] Chr16:2285621 [GRCh38]
Chr16:2335622 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3348_3360del (p.Ile1117fs) deletion Hereditary pulmonary alveolar proteinosis [RCV002326649] Chr16:2285565..2285577 [GRCh38]
Chr16:2335566..2335578 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.2527G>C (p.Val843Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002455701] Chr16:2289607 [GRCh38]
Chr16:2339608 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4195G>A (p.Val1399Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002327802] Chr16:2281191 [GRCh38]
Chr16:2331192 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.4843G>A (p.Val1615Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002340244]|not provided [RCV003102643] Chr16:2277945 [GRCh38]
Chr16:2327946 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.102G>A (p.Leu34_Phe35=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002383445] Chr16:2326227 [GRCh38]
Chr16:2376228 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.5091G>A (p.Pro1697_Pro1698=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002335942] Chr16:2276698 [GRCh38]
Chr16:2326699 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2761C>G (p.Arg921Gly) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002439504] Chr16:2288269 [GRCh38]
Chr16:2338270 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4073A>G (p.Asp1358Gly) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002323058] Chr16:2281472 [GRCh38]
Chr16:2331473 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4272G>A (p.Thr1424_Thr1425=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002330043] Chr16:2281114 [GRCh38]
Chr16:2331115 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1966G>A (p.Asp656Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002423402] Chr16:2297852 [GRCh38]
Chr16:2347853 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4959G>A (p.Pro1653_Gly1654=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002342768] Chr16:2277621 [GRCh38]
Chr16:2327622 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4177C>T (p.Arg1393Trp) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002333438] Chr16:2281209 [GRCh38]
Chr16:2331210 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4178G>A (p.Arg1393Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002333443] Chr16:2281208 [GRCh38]
Chr16:2331209 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3052G>A (p.Gly1018Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002444127] Chr16:2286920 [GRCh38]
Chr16:2336921 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1664A>G (p.Asn555Ser) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002403875]|not provided [RCV003097083] Chr16:2299480 [GRCh38]
Chr16:2349481 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2920G>A (p.Gly974Arg) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002439961] Chr16:2288110 [GRCh38]
Chr16:2338111 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3432T>C (p.Ser1144_Ala1145=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002457048] Chr16:2285493 [GRCh38]
Chr16:2335494 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3373G>A (p.Val1125Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002451763] Chr16:2285552 [GRCh38]
Chr16:2335553 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4303C>G (p.Leu1435Val) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002331909] Chr16:2281083 [GRCh38]
Chr16:2331084 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4860A>G (p.Gln1620_Gln1621=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002340351] Chr16:2277928 [GRCh38]
Chr16:2327929 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2781G>A (p.Ala927_Ala928=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002441313]|not provided [RCV003111548] Chr16:2288249 [GRCh38]
Chr16:2338250 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.382A>G (p.Ser128Gly) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002355380] Chr16:2324469 [GRCh38]
Chr16:2374470 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4376G>A (p.Gly1459Asp) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002333538] Chr16:2279114 [GRCh38]
Chr16:2329115 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.2334C>A (p.His778Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002457647] Chr16:2295670 [GRCh38]
Chr16:2345671 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3805G>C (p.Glu1269Gln) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002355207] Chr16:2284336 [GRCh38]
Chr16:2334337 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4327G>A (p.Gly1443Arg) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002332072] Chr16:2281059 [GRCh38]
Chr16:2331060 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.160G>C (p.Ala54Pro) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002394822] Chr16:2326169 [GRCh38]
Chr16:2376170 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3861T>C (p.Tyr1287_Asn1288=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002355553]|not provided [RCV003094408] Chr16:2284280 [GRCh38]
Chr16:2334281 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_001089.3(ABCA3):c.3805G>T (p.Glu1269Ter) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002355208] Chr16:2284336 [GRCh38]
Chr16:2334337 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.3837C>T (p.Val1279_Ala1280=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002355428] Chr16:2284304 [GRCh38]
Chr16:2334305 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2721A>G (p.Gln907_Phe908=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002431294] Chr16:2288309 [GRCh38]
Chr16:2338310 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3945C>T (p.Cys1315_Ala1316=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002373306] Chr16:2283276 [GRCh38]
Chr16:2333277 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3484-4G>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002337526] Chr16:2285002 [GRCh38]
Chr16:2335003 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1362G>A (p.Gly454_Met455=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002383522] Chr16:2304074 [GRCh38]
Chr16:2354075 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3229T>A (p.Phe1077Ile) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002445530] Chr16:2286743 [GRCh38]
Chr16:2336744 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4214C>A (p.Ala1405Glu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002327982] Chr16:2281172 [GRCh38]
Chr16:2331173 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1564G>A (p.Glu522Lys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002405493] Chr16:2300052 [GRCh38]
Chr16:2350053 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1212G>A (p.Lys404_Leu405=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002356084] Chr16:2308523 [GRCh38]
Chr16:2358524 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.578C>T (p.Pro193Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002359751] Chr16:2323558 [GRCh38]
Chr16:2373559 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.557C>T (p.Pro186Leu) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002344737] Chr16:2323579 [GRCh38]
Chr16:2373580 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.1838A>G (p.Gln613Arg) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002412760] Chr16:2298444 [GRCh38]
Chr16:2348445 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3518C>T (p.Thr1173Met) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002459278]|not provided [RCV003099534] Chr16:2284964 [GRCh38]
Chr16:2334965 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1843G>A (p.Asp615Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002412887] Chr16:2298439 [GRCh38]
Chr16:2348440 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1716G>A (p.Lys572_Thr573=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002398967] Chr16:2299428 [GRCh38]
Chr16:2349429 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3840C>T (p.Ala1280_Ala1281=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002364071] Chr16:2284301 [GRCh38]
Chr16:2334302 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2298G>A (p.Pro766_His767=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002446277]|not provided [RCV003098788] Chr16:2295706 [GRCh38]
Chr16:2345707 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4648C>T (p.Arg1550Trp) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002335061] Chr16:2278358 [GRCh38]
Chr16:2328359 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.3517A>G (p.Thr1173Ala) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002459271] Chr16:2284965 [GRCh38]
Chr16:2334966 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2163C>T (p.His721_Phe722=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002432625] Chr16:2297429 [GRCh38]
Chr16:2347430 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2053-13T>A single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002421851]|not provided [RCV003098582] Chr16:2297552 [GRCh38]
Chr16:2347553 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_001089.3(ABCA3):c.49C>T (p.Leu17_Gln18=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002343013] Chr16:2326418 [GRCh38]
Chr16:2376419 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1947G>A (p.Leu649_His650=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002413279] Chr16:2297871 [GRCh38]
Chr16:2347872 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2748C>T (p.Ala916_Ala917=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002439316] Chr16:2288282 [GRCh38]
Chr16:2338283 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3902dup (p.Val1303fs) duplication Hereditary pulmonary alveolar proteinosis [RCV002357473] Chr16:2283318..2283319 [GRCh38]
Chr16:2333319..2333320 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.412C>A (p.Pro138Thr) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002333047] Chr16:2324439 [GRCh38]
Chr16:2374440 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.412C>G (p.Pro138Ala) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002333049] Chr16:2324439 [GRCh38]
Chr16:2374440 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2262C>T (p.Tyr754_Gly755=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002443764] Chr16:2297330 [GRCh38]
Chr16:2347331 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1574A>G (p.Asp525Gly) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002392623] Chr16:2300042 [GRCh38]
Chr16:2350043 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3902C>G (p.Pro1301Arg) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002357472] Chr16:2283319 [GRCh38]
Chr16:2333320 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.831C>T (p.Thr277_Ile278=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002430419] Chr16:2319623 [GRCh38]
Chr16:2369624 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3592C>T (p.Leu1198_Met1199=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002339835] Chr16:2284890 [GRCh38]
Chr16:2334891 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4618G>A (p.Glu1540Lys) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002342492] Chr16:2278388 [GRCh38]
Chr16:2328389 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.4623G>A (p.Pro1541_Ser1542=) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002342525] Chr16:2278383 [GRCh38]
Chr16:2328384 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4966G>A (p.Asp1656Asn) single nucleotide variant not provided [RCV002775051] Chr16:2277614 [GRCh38]
Chr16:2327615 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4284G>A (p.Met1428Ile) single nucleotide variant not provided [RCV002815785] Chr16:2281102 [GRCh38]
Chr16:2331103 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.155C>T (p.Pro52Leu) single nucleotide variant not provided [RCV002971431] Chr16:2326174 [GRCh38]
Chr16:2376175 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.874-15G>A single nucleotide variant not provided [RCV002686405] Chr16:2317779 [GRCh38]
Chr16:2367780 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1640C>T (p.Ala547Val) single nucleotide variant Inborn genetic diseases [RCV002990202] Chr16:2299504 [GRCh38]
Chr16:2349505 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4364G>A (p.Arg1455Gln) single nucleotide variant Inborn genetic diseases [RCV002882449] Chr16:2279126 [GRCh38]
Chr16:2329127 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2355G>C (p.Thr785_Leu786=) single nucleotide variant not provided [RCV002614666] Chr16:2295649 [GRCh38]
Chr16:2345650 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3502G>A (p.Asp1168Asn) single nucleotide variant Inborn genetic diseases [RCV002992493] Chr16:2284980 [GRCh38]
Chr16:2334981 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.290T>C (p.Val97Ala) single nucleotide variant Inborn genetic diseases [RCV002883122] Chr16:2326039 [GRCh38]
Chr16:2376040 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2477G>A (p.Gly826Glu) single nucleotide variant Inborn genetic diseases [RCV002752817] Chr16:2292176 [GRCh38]
Chr16:2342177 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.320-18C>T single nucleotide variant not provided [RCV002771326] Chr16:2324549 [GRCh38]
Chr16:2374550 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1678C>G (p.Gln560Glu) single nucleotide variant not provided [RCV002996776] Chr16:2299466 [GRCh38]
Chr16:2349467 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1218C>G (p.Cys406Trp) single nucleotide variant not provided [RCV003034709] Chr16:2308517 [GRCh38]
Chr16:2358518 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4548T>C (p.Ser1516_Gly1517=) single nucleotide variant not provided [RCV003076718] Chr16:2278458 [GRCh38]
Chr16:2328459 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.2680G>A (p.Ala894Thr) single nucleotide variant Inborn genetic diseases [RCV002969938] Chr16:2289454 [GRCh38]
Chr16:2339455 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2018T>A (p.Leu673His) single nucleotide variant not provided [RCV002696162] Chr16:2297800 [GRCh38]
Chr16:2347801 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.42C>G (p.Asn14Lys) single nucleotide variant not provided [RCV003079202] Chr16:2326425 [GRCh38]
Chr16:2376426 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.55-1G>A single nucleotide variant not provided [RCV002592696] Chr16:2326275 [GRCh38]
Chr16:2376276 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.4019G>A (p.Arg1340Gln) single nucleotide variant Inborn genetic diseases [RCV002739015] Chr16:2283202 [GRCh38]
Chr16:2333203 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.182C>T (p.Ser61Phe) single nucleotide variant Inborn genetic diseases [RCV002869752] Chr16:2326147 [GRCh38]
Chr16:2376148 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3914G>A (p.Arg1305Gln) single nucleotide variant Inborn genetic diseases [RCV002706856] Chr16:2283307 [GRCh38]
Chr16:2333308 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.985G>A (p.Val329Ile) single nucleotide variant Inborn genetic diseases [RCV002845831] Chr16:2317653 [GRCh38]
Chr16:2367654 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2822T>C (p.Leu941Pro) single nucleotide variant not provided [RCV003058487] Chr16:2288208 [GRCh38]
Chr16:2338209 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2644G>A (p.Asp882Asn) single nucleotide variant not provided [RCV002786372] Chr16:2289490 [GRCh38]
Chr16:2339491 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2739G>A (p.Leu913_Lys914=) single nucleotide variant not provided [RCV003082226] Chr16:2288291 [GRCh38]
Chr16:2338292 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1283A>G (p.Lys428Arg) single nucleotide variant Inborn genetic diseases [RCV002915780] Chr16:2308452 [GRCh38]
Chr16:2358453 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1019G>A (p.Arg340His) single nucleotide variant Inborn genetic diseases [RCV002984395] Chr16:2317375 [GRCh38]
Chr16:2367376 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.640G>C (p.Val214Leu) single nucleotide variant not provided [RCV002593809] Chr16:2319814 [GRCh38]
Chr16:2369815 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2599G>A (p.Asp867Asn) single nucleotide variant Inborn genetic diseases [RCV002873781] Chr16:2289535 [GRCh38]
Chr16:2339536 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.5109dup (p.Arg1704fs) duplication not provided [RCV002852348] Chr16:2276679..2276680 [GRCh38]
Chr16:2326680..2326681 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.23C>T (p.Ala8Val) single nucleotide variant Inborn genetic diseases [RCV002892936] Chr16:2326444 [GRCh38]
Chr16:2376445 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3166G>T (p.Val1056Phe) single nucleotide variant Inborn genetic diseases [RCV002826759] Chr16:2286806 [GRCh38]
Chr16:2336807 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4901C>A (p.Thr1634Asn) single nucleotide variant Inborn genetic diseases [RCV002742703] Chr16:2277887 [GRCh38]
Chr16:2327888 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2031C>T (p.Ile677_Ala678=) single nucleotide variant not provided [RCV003083806] Chr16:2297787 [GRCh38]
Chr16:2347788 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1689C>T (p.Val563_Leu564=) single nucleotide variant not provided [RCV002666585] Chr16:2299455 [GRCh38]
Chr16:2349456 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.874-20G>A single nucleotide variant not provided [RCV002790154] Chr16:2317784 [GRCh38]
Chr16:2367785 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.607_609del (p.Glu203del) deletion not provided [RCV003058488] Chr16:2323527..2323529 [GRCh38]
Chr16:2373528..2373530 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.320-16T>C single nucleotide variant not provided [RCV002711732] Chr16:2324547 [GRCh38]
Chr16:2374548 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.3520C>T (p.Arg1174Trp) single nucleotide variant not provided [RCV002933009] Chr16:2284962 [GRCh38]
Chr16:2334963 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2354C>T (p.Thr785Met) single nucleotide variant Inborn genetic diseases [RCV002787854] Chr16:2295650 [GRCh38]
Chr16:2345651 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3279-11G>T single nucleotide variant not provided [RCV002575280] Chr16:2285657 [GRCh38]
Chr16:2335658 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1897-17G>A single nucleotide variant not provided [RCV002790213] Chr16:2297938 [GRCh38]
Chr16:2347939 [GRCh37]
Chr16:16p13.3		 benign
NM_001089.3(ABCA3):c.1840C>G (p.His614Asp) single nucleotide variant Inborn genetic diseases [RCV002836081] Chr16:2298442 [GRCh38]
Chr16:2348443 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4363C>T (p.Arg1455Trp) single nucleotide variant not provided [RCV002715554] Chr16:2279127 [GRCh38]
Chr16:2329128 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.682G>A (p.Asp228Asn) single nucleotide variant Inborn genetic diseases [RCV003010502] Chr16:2319772 [GRCh38]
Chr16:2369773 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2006T>C (p.Met669Thr) single nucleotide variant not provided [RCV002937984] Chr16:2297812 [GRCh38]
Chr16:2347813 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1285+4_1285+7del deletion not provided [RCV003044470] Chr16:2308443..2308446 [GRCh38]
Chr16:2358444..2358447 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2195G>A (p.Arg732His) single nucleotide variant not provided [RCV002578444] Chr16:2297397 [GRCh38]
Chr16:2347398 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.277G>A (p.Val93Ile) single nucleotide variant not provided [RCV002963410] Chr16:2326052 [GRCh38]
Chr16:2376053 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2509C>T (p.Leu837Phe) single nucleotide variant not provided [RCV003087515] Chr16:2292144 [GRCh38]
Chr16:2342145 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2471G>C (p.Ser824Thr) single nucleotide variant Inborn genetic diseases [RCV002878516] Chr16:2292182 [GRCh38]
Chr16:2342183 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.487T>C (p.Tyr163His) single nucleotide variant Inborn genetic diseases [RCV002921231] Chr16:2323649 [GRCh38]
Chr16:2373650 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.990+11C>T single nucleotide variant not provided [RCV002576547] Chr16:2317637 [GRCh38]
Chr16:2367638 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4891G>A (p.Val1631Met) single nucleotide variant Inborn genetic diseases [RCV002631730]|not provided [RCV002631729] Chr16:2277897 [GRCh38]
Chr16:2327898 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.4459C>T (p.Pro1487Ser) single nucleotide variant Inborn genetic diseases [RCV002878460] Chr16:2279031 [GRCh38]
Chr16:2329032 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2646C>T (p.Asp882_Gly883=) single nucleotide variant not provided [RCV002933712] Chr16:2289488 [GRCh38]
Chr16:2339489 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.2769G>A (p.Trp923Ter) single nucleotide variant not provided [RCV003029984] Chr16:2288261 [GRCh38]
Chr16:2338262 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001089.3(ABCA3):c.3065G>A (p.Arg1022Gln) single nucleotide variant Inborn genetic diseases [RCV002718484] Chr16:2286907 [GRCh38]
Chr16:2336908 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.2701-20C>G single nucleotide variant not provided [RCV002580485] Chr16:2288349 [GRCh38]
Chr16:2338350 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.1705G>A (p.Gly569Ser) single nucleotide variant not provided [RCV003065570] Chr16:2299439 [GRCh38]
Chr16:2349440 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_001089.3(ABCA3):c.3579C>G (p.Ile1193Met) single nucleotide variant not provided [RCV003064312] Chr16:2284903 [GRCh38]
Chr16:2334904 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1674G>A (p.Glu558_Gly559=) single nucleotide variant not provided [RCV002650039] Chr16:2299470 [GRCh38]
Chr16:2349471 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.445G>A (p.Ala149Thr) single nucleotide variant Inborn genetic diseases [RCV002807837] Chr16:2324406 [GRCh38]
Chr16:2374407 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.695G>A (p.Arg232His) single nucleotide variant not provided [RCV003088249] Chr16:2319759 [GRCh38]
Chr16:2369760 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val) single nucleotide variant not provided [RCV002963411] Chr16:2326214 [GRCh38]
Chr16:2376215 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.448-10G>T single nucleotide variant not provided [RCV002942588] Chr16:2323698 [GRCh38]
Chr16:2373699 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.4213G>A (p.Ala1405Thr) single nucleotide variant not provided [RCV003068392] Chr16:2281173 [GRCh38]
Chr16:2331174 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.1612G>A (p.Val538Met) single nucleotide variant not provided [RCV002604071] Chr16:2299532 [GRCh38]
Chr16:2349533 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3279-5C>T single nucleotide variant not provided [RCV003092230] Chr16:2285651 [GRCh38]
Chr16:2335652 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001089.3(ABCA3):c.688G>A (p.Ala230Thr) single nucleotide variant not provided [RCV002603115] Chr16:2319766 [GRCh38]
Chr16:2369767 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.759C>A (p.Asp253Glu) single nucleotide variant not provided [RCV002587667] Chr16:2319695 [GRCh38]
Chr16:2369696 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.3509G>A (p.Arg1170His) single nucleotide variant not provided [RCV002603649] Chr16:2284973 [GRCh38]
Chr16:2334974 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001089.3(ABCA3):c.5052G>T (p.Ser1684_Leu1685=) single nucleotide variant not provided [RCV002610869] Chr16:2276737