CSF2RA (colony stimulating factor 2 receptor subunit alpha) - Rat Genome Database

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Gene: CSF2RA (colony stimulating factor 2 receptor subunit alpha) Homo sapiens
Analyze
Symbol: CSF2RA
Name: colony stimulating factor 2 receptor subunit alpha
RGD ID: 1351351
HGNC Page HGNC:2435
Description: Predicted to enable cytokine binding activity and cytokine receptor activity. Involved in cell surface receptor signaling pathway via JAK-STAT; granulocyte-macrophage colony-stimulating factor signaling pathway; and positive regulation of leukocyte proliferation. Part of granulocyte macrophage colony-stimulating factor receptor complex. Implicated in pulmonary alveolar proteinosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-GM-CSF receptor; alphaGMR; CD116; CD116 antigen; CDw116; colony stimulating factor 2 receptor alpha subunit; colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage); CSF2R; CSF2RAX; CSF2RAY; CSF2RX; CSF2RY; GM-CSF receptor alpha subunit; GM-CSF-R-alpha; GMCSFR; GMCSFR-alpha; GMR; GMR-alpha; granulocyte-macrophage colony-stimulating factor receptor alpha chain; granulocyte-macrophage colony-stimulating factor receptor subunit alpha; MGC3848; MGC4838; SMDP4
RGD Orthologs
Mouse
Rat
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X1,268,814 - 1,325,218 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38Y1,268,814 - 1,325,218 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY1,268,793 - 1,325,373 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblX1,268,793 - 1,325,373 (+)EnsemblGRCh38hg38GRCh38
GRCh37X1,387,707 - 1,444,111 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37Y1,337,707 - 1,394,111 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y1,347,701 - 1,388,827 (+)NCBINCBI36Build 36hg18NCBI36
Build 36X1,347,701 - 1,388,827 (+)NCBINCBI36Build 36hg18NCBI36
Build 34Y1,355,172 - 1,396,299NCBI
CeleraX5,684,057 - 5,726,879 (+)NCBICelera
Cytogenetic MapX;YNCBI
CHM1_1X1,418,017 - 1,458,211 (+)NCBICHM1_1
T2T-CHM13v2.0Y1,129,416 - 1,189,240 (+)NCBIT2T-CHM13v2.0
T2T-CHM13v2.0X1,116,126 - 1,174,802 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
antirheumatic drug  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cannabidiol  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
citalopram  (ISO)
cocaine  (ISO)
crocidolite asbestos  (EXP)
curcumin  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
escitalopram  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lidocaine  (ISO)
lipopolysaccharide  (EXP)
maneb  (ISO)
mercury dibromide  (EXP)
nickel atom  (EXP)
ozone  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
pentanal  (EXP)
phenylmercury acetate  (EXP)
pluronic P-123  (ISO)
Poloxamer  (ISO)
progesterone  (EXP)
propanal  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sunitinib  (EXP)
tetraphene  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
zidovudine  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1358805   PMID:1702217   PMID:1715577   PMID:1832774   PMID:1972780   PMID:2148207   PMID:2555171   PMID:2828352   PMID:7499252   PMID:7945472   PMID:7957082   PMID:7994031  
PMID:8086503   PMID:8144676   PMID:8547489   PMID:8910448   PMID:8943427   PMID:9028317   PMID:9211889   PMID:9446667   PMID:9625584   PMID:9685210   PMID:9723668   PMID:10477722  
PMID:10572088   PMID:10584986   PMID:10734053   PMID:11169747   PMID:11238105   PMID:12384414   PMID:12393492   PMID:12421947   PMID:12477932   PMID:12504125   PMID:12538575   PMID:12604332  
PMID:12637324   PMID:12670335   PMID:12759409   PMID:14504109   PMID:14614142   PMID:15489334   PMID:16760463   PMID:17474147   PMID:17522711   PMID:17681666   PMID:18236400   PMID:18547720  
PMID:18678938   PMID:18692472   PMID:18955567   PMID:18955570   PMID:19099633   PMID:19281803   PMID:20078425   PMID:21056082   PMID:21557945   PMID:21873635   PMID:22430742   PMID:22935703  
PMID:23898208   PMID:23933508   PMID:24714374   PMID:25241761   PMID:25416956   PMID:25425184   PMID:25923510   PMID:27396825   PMID:28233860   PMID:28625976   PMID:28641926   PMID:30124884  
PMID:30942918   PMID:32365364   PMID:32473103   PMID:35019940   PMID:35043685  


Genomics

Comparative Map Data
CSF2RA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X1,268,814 - 1,325,218 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38Y1,268,814 - 1,325,218 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY1,268,793 - 1,325,373 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblX1,268,793 - 1,325,373 (+)EnsemblGRCh38hg38GRCh38
GRCh37X1,387,707 - 1,444,111 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37Y1,337,707 - 1,394,111 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y1,347,701 - 1,388,827 (+)NCBINCBI36Build 36hg18NCBI36
Build 36X1,347,701 - 1,388,827 (+)NCBINCBI36Build 36hg18NCBI36
Build 34Y1,355,172 - 1,396,299NCBI
CeleraX5,684,057 - 5,726,879 (+)NCBICelera
Cytogenetic MapX;YNCBI
CHM1_1X1,418,017 - 1,458,211 (+)NCBICHM1_1
T2T-CHM13v2.0Y1,129,416 - 1,189,240 (+)NCBIT2T-CHM13v2.0
T2T-CHM13v2.0X1,116,126 - 1,174,802 (+)NCBIT2T-CHM13v2.0
Csf2ra
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391961,205,629 - 61,221,141 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1961,212,395 - 61,216,867 (-)EnsemblGRCm39 Ensembl
GRCm381961,217,191 - 61,228,461 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1961,223,957 - 61,228,429 (-)EnsemblGRCm38mm10GRCm38
MGSCv371961,300,305 - 61,304,321 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361961,279,074 - 61,283,022 (-)NCBIMGSCv36mm8
Celera1963,421,543 - 63,425,590 (-)NCBICelera
Cytogenetic Map19D3NCBI
cM Map1956.89NCBI
Csf2ra
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr814113,219 - 118,808 (-)NCBIGRCr8
mRatBN7.21498,089 - 103,261 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1489,172 - 103,128 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx14116,168 - 121,062 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0141,417,943 - 1,422,837 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.014114,615 - 119,509 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0141,462,292 - 1,467,264 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl141,462,358 - 1,467,264 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0141,465,139 - 1,469,667 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera14661,818 - 666,688 (+)NCBICelera
Cytogenetic Map14p22NCBI
CSF2RA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X832,170 - 855,548 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX832,046 - 853,876 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX772,774 - 796,202 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X742,740 - 766,122 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1X734,899 - 758,240 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X751,242 - 774,663 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X748,192 - 771,608 (+)NCBIUU_Cfam_GSD_1.0
LOC101965277
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404953534,206 - 541,365 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366443,835,462 - 3,842,471 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSF2RA
(Sus scrofa - pig)		 No map positions available.
LOC103247514
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_023666141112,013 - 168,815 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Csf2ra
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624834616,180 - 628,794 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CSF2RA
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
NM_172245.4(CSF2RA):c.953A>T (p.Asp318Val) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000559632] ChrX:1303929 [GRCh38]
ChrY:1303929 [GRCh38]
ChrY:1372822 [GRCh37]
ChrX:1422822 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3 copy number gain See cases [RCV000052323] ChrX:26102..3730888 [GRCh38]
ChrX:76102..3648929 [GRCh37]
ChrX:16102..3658929 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3 copy number gain See cases [RCV000052326] ChrX:40904..4469489 [GRCh38]
ChrX:90904..4387530 [GRCh37]
ChrX:30904..4397530 [NCBI36]
ChrX:Xp22.33-22.32		 pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0 copy number loss See cases [RCV000052967] ChrX:10679..7515914 [GRCh38]
ChrX:60679..7433955 [GRCh37]
ChrX:679..7443955 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
NM_172245.4(CSF2RA):c.774_780+10dup duplication not specified [RCV000604731] ChrX:1294453..1294454 [GRCh38]
ChrY:1294453..1294454 [GRCh38]
ChrX:1413346..1413347 [GRCh37]
ChrY:1363346..1363347 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign|uncertain significance
NM_172245.4(CSF2RA):c.223A>G (p.Ser75Gly) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000552721]|not provided [RCV001584307]|not specified [RCV000616558] ChrX:1288522 [GRCh38]
ChrY:1288522 [GRCh38]
ChrX:1407415 [GRCh37]
ChrY:1357415 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
NM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000011068] ChrY:1290449 [GRCh38]
ChrX:1290449 [GRCh38]
ChrY:1359342 [GRCh37]
ChrX:1409342 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0 copy number loss See cases [RCV000135637] ChrY:10679..13139461 [GRCh38]
ChrY:10679..15251375 [GRCh37]
ChrY:679..13760769 [NCBI36]
ChrY:Yp11.32-q11.221		 pathogenic
NG_012280.1:g.(22122_24720)_(45680_?)del deletion Surfactant metabolism dysfunction, pulmonary, 4 [RCV000011067] ChrX:1288519..1309479 [GRCh38]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) copy number loss See cases [RCV000135689] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
NM_001161529.1(CSF2RA):c.1153G>A (p.Glu385Lys) single nucleotide variant Malignant melanoma [RCV000073093] ChrX:1309429 [GRCh38]
ChrY:1309429 [GRCh38]
ChrX:1428322 [GRCh37]
ChrY:1378322 [GRCh37]
ChrX:1388322 [NCBI36]
ChrX:Xp22.33
ChrY:Yp11.2		 not provided
GRCh38/hg38 Yp11.32-11.2(chrY:10679-1339321)x0 copy number loss See cases [RCV000050918] ChrY:10679..1339321 [GRCh38]
ChrY:10679..1408214 [GRCh37]
ChrY:679..1418214 [NCBI36]
ChrY:Yp11.32-11.2		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33(chrX:795387-1499689)x3 copy number gain See cases [RCV000135104] ChrX:795387..1499689 [GRCh38]
ChrX:756122..1618582 [GRCh37]
ChrX:676122..1578582 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Xp22.33(chrX:1055101-1420616)x3 copy number gain See cases [RCV000135150] ChrX:1055101..1420616 [GRCh38]
ChrX:1015836..1539509 [GRCh37]
ChrX:935836..1499509 [NCBI36]
ChrX:Xp22.33		 likely benign
GRCh38/hg38 Xp22.33(chrX:1248646-2363996)x3 copy number gain See cases [RCV000134915] ChrX:1248646..2363996 [GRCh38]
ChrX:1367539..2282037 [GRCh37]
ChrX:1327539..2292037 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Yp11.2(chrY:1055101-1420616)x3 copy number gain See cases [RCV000135151] ChrY:1055101..1420616 [GRCh38]
ChrY:965836..1489509 [GRCh37]
ChrY:935836..1499509 [NCBI36]
ChrY:Yp11.2		 likely benign
GRCh38/hg38 Xp22.33(chrX:820136-1397810)x3 copy number gain See cases [RCV000135271] ChrX:820136..1397810 [GRCh38]
ChrX:780871..1516703 [GRCh37]
ChrX:700871..1476703 [NCBI36]
ChrX:Xp22.33		 likely benign
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0 copy number loss See cases [RCV000135635] ChrX:10679..3758140 [GRCh38]
ChrX:60679..3676181 [GRCh37]
ChrX:679..3686181 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1 copy number loss See cases [RCV000135304] ChrX:10001..6536888 [GRCh38]
ChrX:17642..6454929 [GRCh37]
ChrX:1..6464929 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1059289-1549195)x3 copy number gain See cases [RCV000134790] ChrX:1059289..1549195 [GRCh38]
ChrX:1020024..1668088 [GRCh37]
ChrX:940024..1628088 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Yp11.31-11.2(chrY:302967-1581104)x0 copy number loss See cases [RCV000134810] ChrY:302967..1581104 [GRCh38]
ChrY:169634..1649997 [GRCh37]
ChrY:159634..1659997 [NCBI36]
ChrY:Yp11.31-11.2		 uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0 copy number loss See cases [RCV000135329] ChrX:1202712..7928490 [GRCh38]
ChrX:1321581..7896531 [GRCh37]
ChrX:1281581..7856531 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1 copy number loss See cases [RCV000134136] ChrX:10679..9459643 [GRCh38]
ChrX:60679..9427683 [GRCh37]
ChrX:679..9387683 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33(chrX:10679-1633117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053819]|See cases [RCV000053819] ChrX:10679..1633117 [GRCh38]
ChrX:60679..1752010 [GRCh37]
ChrX:679..1712010 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33(chrX:825835-1418665)x3 copy number gain See cases [RCV000133945] ChrX:825835..1418665 [GRCh38]
ChrX:786570..1537558 [GRCh37]
ChrX:706570..1497558 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1 copy number loss See cases [RCV000052969] ChrX:10679..6495923 [GRCh38]
ChrX:60679..6413964 [GRCh37]
ChrX:679..6423964 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
NM_172245.4(CSF2RA):c.921C>T (p.Ser307=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001088711]|not provided [RCV000173821] ChrX:1300601 [GRCh38]
ChrY:1300601 [GRCh38]
ChrY:1369494 [GRCh37]
ChrX:1419494 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000560401]|not provided [RCV001701617]|not specified [RCV000150363] ChrY:1290354 [GRCh38]
ChrX:1290354 [GRCh38]
ChrX:1409247 [GRCh37]
ChrY:1359247 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
NM_172245.4(CSF2RA):c.50C>G (p.Ala17Gly) single nucleotide variant CSF2RA-related disorder [RCV003917530]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001513022]|not provided [RCV001675644]|not specified [RCV000155474] ChrY:1282753 [GRCh38]
ChrX:1282753 [GRCh38]
ChrY:1351646 [GRCh37]
ChrX:1401646 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.561G>A (p.Thr187=) single nucleotide variant CSF2RA-related disorder [RCV003907478]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000534761]|not provided [RCV001689702]|not specified [RCV000155476] ChrY:1290424 [GRCh38]
ChrX:1290424 [GRCh38]
ChrX:1409317 [GRCh37]
ChrY:1359317 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.999G>A (p.Val333=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001514160]|not provided [RCV001668313]|not specified [RCV000155477] ChrY:1303975 [GRCh38]
ChrX:1303975 [GRCh38]
ChrX:1422868 [GRCh37]
ChrY:1372868 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1125+128G>A single nucleotide variant not provided [RCV001668314]|not specified [RCV000155478] ChrX:1305655 [GRCh38]
ChrY:1305655 [GRCh38]
ChrX:1424548 [GRCh37]
ChrY:1374548 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.*9G>A single nucleotide variant CSF2RA-related disorder [RCV003917531]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001262878]|not provided [RCV001618312]|not specified [RCV000155479] ChrY:1309488 [GRCh38]
ChrX:1309488 [GRCh38]
ChrX:1428381 [GRCh37]
ChrY:1378381 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000545726]|not provided [RCV001551063]|not specified [RCV000155475] ChrX:1288840 [GRCh38]
ChrY:1288840 [GRCh38]
ChrX:1407733 [GRCh37]
ChrY:1357733 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
GRCh38/hg38 Xp22.33(chrX:1259704-1295445)x3 copy number gain See cases [RCV000140281] ChrX:1259704..1295445 [GRCh38]
ChrX:1378597..1414338 [GRCh37]
ChrX:1338597..1374338 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1 copy number loss See cases [RCV000052991] ChrX:26102..8495903 [GRCh38]
ChrX:76102..8463944 [GRCh37]
ChrX:16102..8423944 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1027415-1702424)x3 copy number gain See cases [RCV000139885] ChrX:1027415..1702424 [GRCh38]
ChrX:988150..1821317 [GRCh37]
ChrX:908150..1781317 [NCBI36]
ChrY:908150..1781317 [NCBI36]
ChrX:Xp22.33
ChrY:Yp11.32-11.31		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33(chrX:1259698-1295445)x4 copy number gain See cases [RCV000140430] ChrX:1259698..1295445 [GRCh38]
ChrX:1378591..1414338 [GRCh37]
ChrX:1338591..1374338 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Xp22.33(chrX:1086932-1464861)x3 copy number gain See cases [RCV000140478] ChrX:1086932..1464861 [GRCh38]
ChrX:1110841..1583754 [GRCh37]
ChrX:1030841..1543754 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Xp22.33(chrX:1202712-1311821)x3 copy number gain See cases [RCV000140554] ChrX:1202712..1311821 [GRCh38]
ChrX:1321581..1430714 [GRCh37]
ChrX:1281581..1390714 [NCBI36]
ChrX:Xp22.33		 benign
GRCh38/hg38 Yp11.2(chrY:1086932-1464861)x3 copy number gain See cases [RCV000140654] ChrY:1086932..1464861 [GRCh38]
ChrY:1060841..1533754 [GRCh37]
ChrY:1030841..1543754 [NCBI36]
ChrY:Yp11.2		 benign
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1 copy number loss See cases [RCV000141660] ChrX:251879..6583978 [GRCh38]
ChrX:168546..6502019 [GRCh37]
ChrX:108546..6512019 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33(chrX:21267-2299223)x1 copy number loss See cases [RCV000141399] ChrX:21267..2299223 [GRCh38]
ChrX:71267..2217264 [GRCh37]
ChrX:11267..2227264 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1 copy number loss See cases [RCV000141411] ChrY:378139..57181562 [GRCh38]
ChrY:288874..59327713 [GRCh37]
ChrY:258874..57737101 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yp11.2(chrY:1112351-1702424)x3 copy number gain See cases [RCV000141635] ChrY:1112351..1702424 [GRCh38]
ChrY:1162504..1771317 [GRCh37]
ChrY:1132504..1781317 [NCBI36]
ChrY:Yp11.2		 uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1063677-1838017)x3 copy number gain See cases [RCV000142246] ChrX:1063677..1838017 [GRCh38]
ChrX:1024412..1956910 [GRCh37]
ChrX:944412..1916910 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1 copy number loss See cases [RCV000143070] ChrX:10701..8423970 [GRCh38]
ChrX:60701..8392011 [GRCh37]
ChrX:701..8352011 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1285856-1912497)x3 copy number gain See cases [RCV000143239] ChrX:1285856..1912497 [GRCh38]
ChrX:1404749..2031390 [GRCh37]
ChrX:1364749..1991390 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33(chrX:1063704-1598200)x3 copy number gain See cases [RCV000143296] ChrX:1063704..1598200 [GRCh38]
ChrX:1024439..1717093 [GRCh37]
ChrX:944439..1677093 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Yp11.2(chrY:655725-1353033)x3 copy number gain See cases [RCV000143353] ChrY:655725..1353033 [GRCh38]
ChrY:566460..1421926 [GRCh37]
ChrY:536460..1431926 [NCBI36]
ChrY:Yp11.2		 uncertain significance
GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3 copy number gain See cases [RCV000143419] ChrY:301880..11680029 [GRCh38]
ChrY:168547..13800735 [GRCh37]
ChrY:158547..12310735 [NCBI36]
ChrY:Yp11.31-q11.21		 likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0 copy number loss See cases [RCV000135690] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3 copy number gain See cases [RCV000136091] ChrX:10701..8129470 [GRCh38]
ChrX:60701..8097511 [GRCh37]
ChrX:701..8057511 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1 copy number loss See cases [RCV000135756] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33(chrX:868352-1308697)x4 copy number gain See cases [RCV000135776] ChrX:868352..1308697 [GRCh38]
ChrX:917876..1427590 [GRCh37]
ChrX:749087..1387590 [NCBI36]
ChrX:Xp22.33		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33(chrX:936345-1838841)x3 copy number gain See cases [RCV000135932] ChrX:936345..1838841 [GRCh38]
ChrX:917876..1957734 [GRCh37]
ChrX:817080..1917734 [NCBI36]
ChrX:Xp22.33		 pathogenic|likely benign
GRCh38/hg38 Xp22.33(chrX:936346-1308518)x3 copy number gain See cases [RCV000136027] ChrX:936346..1308518 [GRCh38]
ChrX:917876..1427411 [GRCh37]
ChrX:817081..1387411 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1 copy number loss See cases [RCV000136524] ChrX:10701..8466385 [GRCh38]
ChrX:60701..8434426 [GRCh37]
ChrX:701..8394426 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33(chrX:10679-2777359)x1 copy number loss See cases [RCV000136867] ChrX:10679..2777359 [GRCh38]
ChrX:60679..2695400 [GRCh37]
ChrX:679..2705400 [NCBI36]
ChrX:Xp22.33		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1227766-1807393)x3 copy number gain See cases [RCV000136939] ChrX:1227766..1807393 [GRCh38]
ChrX:1346659..1926286 [GRCh37]
ChrX:1306659..1886286 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12		 uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0 copy number loss See cases [RCV000137555] ChrY:10701..17951506 [GRCh38]
ChrY:10701..20063386 [GRCh37]
ChrY:701..18572780 [NCBI36]
ChrY:Yp11.32-q11.222		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1 copy number loss See cases [RCV000137882] ChrX:10701..8147112 [GRCh38]
ChrX:60701..8115153 [GRCh37]
ChrX:701..8075153 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1000807-1702424)x3 copy number gain See cases [RCV000137680] ChrX:1000807..1702424 [GRCh38]
ChrX:961542..1821317 [GRCh37]
ChrX:881542..1781317 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1085618-1308663)x0 copy number loss See cases [RCV000137896] ChrX:1085618..1308663 [GRCh38]
ChrX:1118266..1427556 [GRCh37]
ChrX:1038266..1387556 [NCBI36]
ChrX:Xp22.33		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33(chrX:620976-1506411)x3 copy number gain See cases [RCV000139241] ChrX:620976..1506411 [GRCh38]
ChrX:581711..1625304 [GRCh37]
ChrX:501711..1585304 [NCBI36]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33(chrX:916820-1419770)x3 copy number gain See cases [RCV000138304] ChrX:916820..1419770 [GRCh38]
ChrX:917876..1538663 [GRCh37]
ChrX:797555..1498663 [NCBI36]
ChrX:Xp22.33		 likely benign
GRCh38/hg38 Xp22.33(chrX:1085618-1285905)x3 copy number gain See cases [RCV000138447] ChrX:1085618..1285905 [GRCh38]
ChrX:1118268..1404798 [GRCh37]
ChrX:1038268..1364798 [NCBI36]
ChrX:Xp22.33		 likely benign
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2		 pathogenic
NM_172245.4(CSF2RA):c.279A>G (p.Thr93=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000530965]|not provided [RCV001701800]|not specified [RCV000220235] ChrY:1288578 [GRCh38]
ChrX:1288578 [GRCh38]
ChrY:1357471 [GRCh37]
ChrX:1407471 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
NM_172245.4(CSF2RA):c.647-7G>A single nucleotide variant CSF2RA-related disorder [RCV003897465]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646170]|not specified [RCV000213907] ChrY:1294321 [GRCh38]
ChrX:1294321 [GRCh38]
ChrX:1413214 [GRCh37]
ChrY:1363214 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
NM_172245.4(CSF2RA):c.*49G>T single nucleotide variant CSF2RA-related disorder [RCV003917866]|not provided [RCV001651072]|not specified [RCV000218760] ChrX:1309528 [GRCh38]
ChrY:1309528 [GRCh38]
ChrX:1428421 [GRCh37]
ChrY:1378421 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
NM_172245.4(CSF2RA):c.300T>C (p.Thr100=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646176]|not specified [RCV000223467] ChrX:1288599 [GRCh38]
ChrY:1288599 [GRCh38]
ChrX:1407492 [GRCh37]
ChrY:1357492 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.549G>C (p.Leu183=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646173]|not provided [RCV004713413]|not specified [RCV000215233] ChrX:1290412 [GRCh38]
ChrY:1290412 [GRCh38]
ChrX:1409305 [GRCh37]
ChrY:1359305 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.*7G>A single nucleotide variant not provided [RCV000732939] ChrX:1309486 [GRCh38]
ChrY:1309486 [GRCh38]
ChrX:1428379 [GRCh37]
ChrY:1378379 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.972T>G (p.Ser324=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424734] ChrX:1303948 [GRCh38]
ChrY:1303948 [GRCh38]
ChrX:1422841 [GRCh37]
ChrY:1372841 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.997G>A (p.Val333Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646171]|not specified [RCV000825153] ChrX:1303973 [GRCh38]
ChrY:1303973 [GRCh38]
ChrX:1422866 [GRCh37]
ChrY:1372866 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646169] ChrX:1294349 [GRCh38]
ChrY:1294349 [GRCh38]
ChrY:1363242 [GRCh37]
ChrX:1413242 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.530G>A (p.Gly177Glu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000700436] ChrX:1290393 [GRCh38]
ChrY:1290393 [GRCh38]
ChrX:1409286 [GRCh37]
ChrY:1359286 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) single nucleotide variant CSF2RA-related disorder [RCV003892550]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000694681]|not provided [RCV003227831] ChrX:1285892 [GRCh38]
ChrY:1285892 [GRCh38]
ChrX:1404785 [GRCh37]
ChrY:1354785 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign|uncertain significance
NM_172245.4(CSF2RA):c.1006C>G (p.Leu336Val) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000697330]|not provided [RCV004692148] ChrY:1303982 [GRCh38]
ChrX:1303982 [GRCh38]
ChrX:1422875 [GRCh37]
ChrY:1372875 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000689875] ChrX:1294387 [GRCh38]
ChrY:1294387 [GRCh38]
ChrX:1413280 [GRCh37]
ChrY:1363280 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.676G>A (p.Val226Ile) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000692748]|not provided [RCV004692122] ChrX:1294357 [GRCh38]
ChrY:1294357 [GRCh38]
ChrX:1413250 [GRCh37]
ChrY:1363250 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.692C>T (p.Thr231Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000702107] ChrX:1294373 [GRCh38]
ChrY:1294373 [GRCh38]
ChrX:1413266 [GRCh37]
ChrY:1363266 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000705602] ChrX:1303992 [GRCh38]
ChrY:1303992 [GRCh38]
ChrY:1372885 [GRCh37]
ChrX:1422885 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.*274C>T single nucleotide variant not provided [RCV001547083] ChrX:1309753 [GRCh38]
ChrY:1309753 [GRCh38]
ChrX:1428646 [GRCh37]
ChrY:1378646 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.219+151A>G single nucleotide variant not provided [RCV001540550] ChrX:1286071 [GRCh38]
ChrY:1286071 [GRCh38]
ChrX:1404964 [GRCh37]
ChrY:1354964 [GRCh37]
ChrY:Yp11.2
ChrX:Xp22.33		 benign
Single allele duplication Autism [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12		 likely pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_172245.4(CSF2RA):c.781-95C>T single nucleotide variant not provided [RCV001540925] ChrX:1295332 [GRCh38]
ChrY:1295332 [GRCh38]
ChrX:1414225 [GRCh37]
ChrY:1364225 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.675C>T (p.Thr225=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002544535] ChrX:1294356 [GRCh38]
ChrY:1294356 [GRCh38]
ChrX:1413249 [GRCh37]
ChrY:1363249 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.647-290_647-207del deletion not provided [RCV001646059] ChrX:1294014..1294097 [GRCh38]
ChrY:1294014..1294097 [GRCh38]
ChrX:1412907..1412990 [GRCh37]
ChrY:1362907..1362990 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-112G>A single nucleotide variant not provided [RCV001610192] ChrX:1288407 [GRCh38]
ChrY:1288407 [GRCh38]
ChrX:1407300 [GRCh37]
ChrY:1357300 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.473+123C>G single nucleotide variant not provided [RCV001668899] ChrX:1289011 [GRCh38]
ChrY:1289011 [GRCh38]
ChrX:1407904 [GRCh37]
ChrY:1357904 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.*358A>G single nucleotide variant not provided [RCV001690603] ChrX:1309837 [GRCh38]
ChrY:1309837 [GRCh38]
ChrX:1428730 [GRCh37]
ChrY:1378730 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.647-147C>G single nucleotide variant not provided [RCV001550430] ChrX:1294181 [GRCh38]
ChrY:1294181 [GRCh38]
ChrX:1413074 [GRCh37]
ChrY:1363074 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.789G>C (p.Gln263His) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001046187] ChrX:1295435 [GRCh38]
ChrY:1295435 [GRCh38]
ChrX:1414328 [GRCh37]
ChrY:1364328 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.811-261AAATA[2] microsatellite not provided [RCV001691667] ChrX:1300230..1300234 [GRCh38]
ChrY:1300230..1300234 [GRCh38]
ChrX:1419123..1419127 [GRCh37]
ChrY:1369123..1369127 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.647-94T>C single nucleotide variant not provided [RCV001582086] ChrX:1294234 [GRCh38]
ChrY:1294234 [GRCh38]
ChrY:1363127 [GRCh37]
ChrX:1413127 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.220-221A>G single nucleotide variant not provided [RCV001709315] ChrX:1288298 [GRCh38]
ChrY:1288298 [GRCh38]
ChrX:1407191 [GRCh37]
ChrY:1357191 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.219+123T>C single nucleotide variant not provided [RCV001645603] ChrX:1286043 [GRCh38]
ChrY:1286043 [GRCh38]
ChrX:1404936 [GRCh37]
ChrY:1354936 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.646+9A>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000924709] ChrX:1290518 [GRCh38]
ChrY:1290518 [GRCh38]
ChrX:1409411 [GRCh37]
ChrY:1359411 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.646+8T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001475994] ChrX:1290517 [GRCh38]
ChrY:1290517 [GRCh38]
ChrX:1409410 [GRCh37]
ChrY:1359410 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1044-6T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000972539] ChrX:1305440 [GRCh38]
ChrY:1305440 [GRCh38]
ChrX:1424333 [GRCh37]
ChrY:1374333 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.441C>T (p.Asp147=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000966523] ChrX:1288856 [GRCh38]
ChrY:1288856 [GRCh38]
ChrX:1407749 [GRCh37]
ChrY:1357749 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.681T>C (p.Arg227=) single nucleotide variant CSF2RA-related disorder [RCV003895649]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000929044]|not specified [RCV001194227] ChrX:1294362 [GRCh38]
ChrY:1294362 [GRCh38]
ChrX:1413255 [GRCh37]
ChrY:1363255 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
NM_172245.4(CSF2RA):c.368_377del (p.Asn123fs) deletion Surfactant metabolism dysfunction, pulmonary, 4 [RCV001041175] ChrX:1288783..1288792 [GRCh38]
ChrY:1288783..1288792 [GRCh38]
ChrX:1407676..1407685 [GRCh37]
ChrY:1357676..1357685 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001062354] ChrX:1290458 [GRCh38]
ChrY:1290458 [GRCh38]
ChrX:1409351 [GRCh37]
ChrY:1359351 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001037382] ChrX:1288541 [GRCh38]
ChrY:1288541 [GRCh38]
ChrX:1407434 [GRCh37]
ChrY:1357434 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.281T>C (p.Phe94Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000787037] ChrY:1288580 [GRCh38]
ChrX:1288580 [GRCh38]
ChrY:1357473 [GRCh37]
ChrX:1407473 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.167C>A (p.Thr56Asn) single nucleotide variant not provided [RCV000788140] ChrX:1285868 [GRCh38]
ChrY:1285868 [GRCh38]
ChrX:1404761 [GRCh37]
ChrY:1354761 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.966C>T (p.Leu322=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000908849] ChrX:1303942 [GRCh38]
ChrY:1303942 [GRCh38]
ChrX:1422835 [GRCh37]
ChrY:1372835 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1122C>T (p.Asp374=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000893981] ChrX:1305524 [GRCh38]
ChrY:1305524 [GRCh38]
ChrX:1424417 [GRCh37]
ChrY:1374417 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.294G>A (p.Val98=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001401555] ChrX:1288593 [GRCh38]
ChrY:1288593 [GRCh38]
ChrX:1407486 [GRCh37]
ChrY:1357486 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794635] ChrY:1288531 [GRCh38]
ChrX:1288531 [GRCh38]
ChrX:1407424 [GRCh37]
ChrY:1357424 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814594] ChrY:1290359 [GRCh38]
ChrX:1290359 [GRCh38]
ChrX:1409252 [GRCh37]
ChrY:1359252 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000801802] ChrY:1288636 [GRCh38]
ChrX:1288636 [GRCh38]
ChrX:1407529 [GRCh37]
ChrY:1357529 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000818672] ChrY:1309444 [GRCh38]
ChrX:1309444 [GRCh38]
ChrX:1428337 [GRCh37]
ChrY:1378337 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800495] ChrY:1305463 [GRCh38]
ChrX:1305463 [GRCh38]
ChrX:1424356 [GRCh37]
ChrY:1374356 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.530G>C (p.Gly177Ala) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796898]|not provided [RCV004584802] ChrY:1290393 [GRCh38]
ChrX:1290393 [GRCh38]
ChrX:1409286 [GRCh37]
ChrY:1359286 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign|uncertain significance
NM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000797206] ChrY:1290459 [GRCh38]
ChrX:1290459 [GRCh38]
ChrY:1359352 [GRCh37]
ChrX:1409352 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800984]|not provided [RCV002261210] ChrY:1309432 [GRCh38]
ChrX:1309432 [GRCh38]
ChrY:1378325 [GRCh37]
ChrX:1428325 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000804224] ChrY:1288767 [GRCh38]
ChrX:1288767 [GRCh38]
ChrX:1407660 [GRCh37]
ChrY:1357660 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.565C>T (p.Arg189Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000814044] ChrY:1290428 [GRCh38]
ChrX:1290428 [GRCh38]
ChrX:1409321 [GRCh37]
ChrY:1359321 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.163A>G (p.Thr55Ala) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000798653] ChrY:1285864 [GRCh38]
ChrX:1285864 [GRCh38]
ChrX:1404757 [GRCh37]
ChrY:1354757 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.490C>T (p.Arg164Trp) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000815162] ChrY:1290353 [GRCh38]
ChrX:1290353 [GRCh38]
ChrX:1409246 [GRCh37]
ChrY:1359246 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.912G>C (p.Leu304Phe) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000794269] ChrY:1300592 [GRCh38]
ChrX:1300592 [GRCh38]
ChrX:1419485 [GRCh37]
ChrY:1369485 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.347G>A (p.Arg116Lys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001068230] ChrX:1288762 [GRCh38]
ChrY:1288762 [GRCh38]
ChrX:1407655 [GRCh37]
ChrY:1357655 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.464G>A (p.Arg155Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001397113] ChrX:1288879 [GRCh38]
ChrY:1288879 [GRCh38]
ChrX:1407772 [GRCh37]
ChrY:1357772 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.251G>A (p.Arg84His) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000796307]|not provided [RCV004597874] ChrY:1288550 [GRCh38]
ChrX:1288550 [GRCh38]
ChrX:1407443 [GRCh37]
ChrY:1357443 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign|uncertain significance
NM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000819471] ChrY:1304010 [GRCh38]
ChrX:1304010 [GRCh38]
ChrX:1422903 [GRCh37]
ChrY:1372903 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.69G>T (p.Glu23Asp) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000803630] ChrY:1282772 [GRCh38]
ChrX:1282772 [GRCh38]
ChrX:1401665 [GRCh37]
ChrY:1351665 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1055T>G (p.Ile352Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000800410] ChrY:1305457 [GRCh38]
ChrX:1305457 [GRCh38]
ChrX:1424350 [GRCh37]
ChrY:1374350 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.436C>T (p.Arg146Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231041] ChrX:1288851 [GRCh38]
ChrY:1288851 [GRCh38]
ChrX:1407744 [GRCh37]
ChrY:1357744 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001231372] ChrX:1285845 [GRCh38]
ChrY:1285845 [GRCh38]
ChrX:1404738 [GRCh37]
ChrY:1354738 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.625C>G (p.Leu209Val) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209471] ChrX:1290488 [GRCh38]
ChrY:1290488 [GRCh38]
ChrX:1409381 [GRCh37]
ChrY:1359381 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.580G>A (p.Val194Ile) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001203749] ChrX:1290443 [GRCh38]
ChrY:1290443 [GRCh38]
ChrX:1409336 [GRCh37]
ChrY:1359336 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1044-3C>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001240653] ChrX:1305443 [GRCh38]
ChrY:1305443 [GRCh38]
ChrX:1424336 [GRCh37]
ChrY:1374336 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.826G>A (p.Asp276Asn) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001235643] ChrX:1300506 [GRCh38]
ChrY:1300506 [GRCh38]
ChrX:1419399 [GRCh37]
ChrY:1369399 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.904C>T (p.Arg302Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001210368] ChrX:1300584 [GRCh38]
ChrY:1300584 [GRCh38]
ChrX:1419477 [GRCh37]
ChrY:1369477 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.77-35G>A single nucleotide variant not provided [RCV001567698] ChrX:1285743 [GRCh38]
ChrY:1285743 [GRCh38]
ChrX:1404636 [GRCh37]
ChrY:1354636 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.473+158C>T single nucleotide variant not provided [RCV001675058] ChrX:1289046 [GRCh38]
ChrY:1289046 [GRCh38]
ChrX:1407939 [GRCh37]
ChrY:1357939 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1126-219C>T single nucleotide variant not provided [RCV001659371] ChrX:1309183 [GRCh38]
ChrY:1309183 [GRCh38]
ChrX:1428076 [GRCh37]
ChrY:1378076 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.647-244C>A single nucleotide variant not provided [RCV001668071] ChrX:1294084 [GRCh38]
ChrY:1294084 [GRCh38]
ChrX:1412977 [GRCh37]
ChrY:1362977 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-123T>C single nucleotide variant not provided [RCV001725410] ChrX:1288396 [GRCh38]
ChrY:1288396 [GRCh38]
ChrX:1407289 [GRCh37]
ChrY:1357289 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-82A>G single nucleotide variant not provided [RCV001612411] ChrX:1288437 [GRCh38]
ChrY:1288437 [GRCh38]
ChrX:1407330 [GRCh37]
ChrY:1357330 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.76+118C>G single nucleotide variant not provided [RCV001561394] ChrX:1282897 [GRCh38]
ChrY:1282897 [GRCh38]
ChrY:1351790 [GRCh37]
ChrX:1401790 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.343+50C>T single nucleotide variant not provided [RCV001561707] ChrX:1288692 [GRCh38]
ChrY:1288692 [GRCh38]
ChrX:1407585 [GRCh37]
ChrY:1357585 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.220-313G>A single nucleotide variant not provided [RCV001545360] ChrX:1288206 [GRCh38]
ChrY:1288206 [GRCh38]
ChrX:1407099 [GRCh37]
ChrY:1357099 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.473+105G>T single nucleotide variant not provided [RCV001609418] ChrX:1288993 [GRCh38]
ChrY:1288993 [GRCh38]
ChrX:1407886 [GRCh37]
ChrY:1357886 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.219+97C>A single nucleotide variant not provided [RCV001621456] ChrX:1286017 [GRCh38]
ChrY:1286017 [GRCh38]
ChrX:1404910 [GRCh37]
ChrY:1354910 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.811-135A>G single nucleotide variant not provided [RCV001641541] ChrX:1300356 [GRCh38]
ChrY:1300356 [GRCh38]
ChrX:1419249 [GRCh37]
ChrY:1369249 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.*144A>G single nucleotide variant not provided [RCV001556756] ChrX:1309623 [GRCh38]
ChrY:1309623 [GRCh38]
ChrX:1428516 [GRCh37]
ChrY:1378516 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.77-294G>A single nucleotide variant not provided [RCV001618201] ChrX:1285484 [GRCh38]
ChrY:1285484 [GRCh38]
ChrX:1404377 [GRCh37]
ChrY:1354377 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1126-37G>A single nucleotide variant not provided [RCV001562489] ChrX:1309365 [GRCh38]
ChrY:1309365 [GRCh38]
ChrX:1428258 [GRCh37]
ChrY:1378258 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.220-113T>C single nucleotide variant not provided [RCV001652771] ChrX:1288406 [GRCh38]
ChrY:1288406 [GRCh38]
ChrX:1407299 [GRCh37]
ChrY:1357299 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.647-231T>C single nucleotide variant not provided [RCV001640064] ChrX:1294097 [GRCh38]
ChrY:1294097 [GRCh38]
ChrY:1362990 [GRCh37]
ChrX:1412990 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.*195G>T single nucleotide variant not provided [RCV001589686] ChrX:1309674 [GRCh38]
ChrY:1309674 [GRCh38]
ChrX:1428567 [GRCh37]
ChrY:1378567 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.946+106C>T single nucleotide variant not provided [RCV001558661] ChrX:1300732 [GRCh38]
ChrY:1300732 [GRCh38]
ChrX:1419625 [GRCh37]
ChrY:1369625 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.810+186T>C single nucleotide variant not provided [RCV001620759] ChrX:1295642 [GRCh38]
ChrY:1295642 [GRCh38]
ChrX:1414535 [GRCh37]
ChrY:1364535 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1043+127T>C single nucleotide variant not provided [RCV001710669] ChrX:1304146 [GRCh38]
ChrY:1304146 [GRCh38]
ChrX:1423039 [GRCh37]
ChrY:1373039 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-97T>C single nucleotide variant not provided [RCV001683944] ChrX:1288422 [GRCh38]
ChrY:1288422 [GRCh38]
ChrX:1407315 [GRCh37]
ChrY:1357315 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.647-8C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000930974] ChrX:1294320 [GRCh38]
ChrY:1294320 [GRCh38]
ChrX:1413213 [GRCh37]
ChrY:1363213 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.357C>T (p.Thr119=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001414480] ChrX:1288772 [GRCh38]
ChrY:1288772 [GRCh38]
ChrX:1407665 [GRCh37]
ChrY:1357665 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.429G>A (p.Thr143=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001443139] ChrY:1288844 [GRCh38]
ChrX:1288844 [GRCh38]
ChrX:1407737 [GRCh37]
ChrY:1357737 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.334C>T (p.Pro112Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001222822]|not provided [RCV004695212] ChrX:1288633 [GRCh38]
ChrY:1288633 [GRCh38]
ChrX:1407526 [GRCh37]
ChrY:1357526 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.83G>C (p.Arg28Pro) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001244855] ChrX:1285784 [GRCh38]
ChrY:1285784 [GRCh38]
ChrX:1404677 [GRCh37]
ChrY:1354677 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.682T>C (p.Cys228Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001236491] ChrX:1294363 [GRCh38]
ChrY:1294363 [GRCh38]
ChrX:1413256 [GRCh37]
ChrY:1363256 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.358G>A (p.Ala120Thr) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216564] ChrX:1288773 [GRCh38]
ChrY:1288773 [GRCh38]
ChrX:1407666 [GRCh37]
ChrY:1357666 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001240265] ChrX:1303928 [GRCh38]
ChrY:1303928 [GRCh38]
ChrX:1422821 [GRCh37]
ChrY:1372821 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.75G>A (p.Ser25=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001209053] ChrX:1282778 [GRCh38]
ChrY:1282778 [GRCh38]
ChrX:1401671 [GRCh37]
ChrY:1351671 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.83G>A (p.Arg28Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001067117] ChrX:1285784 [GRCh38]
ChrY:1285784 [GRCh38]
ChrX:1404677 [GRCh37]
ChrY:1354677 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.987G>C (p.Val329=) single nucleotide variant CSF2RA-related disorder [RCV003895445]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000889400]|not provided [RCV004704273] ChrX:1303963 [GRCh38]
ChrY:1303963 [GRCh38]
ChrX:1422856 [GRCh37]
ChrY:1372856 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.967G>A (p.Gly323Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000890209] ChrX:1303943 [GRCh38]
ChrY:1303943 [GRCh38]
ChrX:1422836 [GRCh37]
ChrY:1372836 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1126-155C>T single nucleotide variant not provided [RCV001720932] ChrX:1309247 [GRCh38]
ChrY:1309247 [GRCh38]
ChrX:1428140 [GRCh37]
ChrY:1378140 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-121C>G single nucleotide variant not provided [RCV001657176] ChrX:1288398 [GRCh38]
ChrY:1288398 [GRCh38]
ChrX:1407291 [GRCh37]
ChrY:1357291 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1126-215C>T single nucleotide variant not provided [RCV001637380] ChrX:1309187 [GRCh38]
ChrY:1309187 [GRCh38]
ChrX:1428080 [GRCh37]
ChrY:1378080 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.219+118T>C single nucleotide variant not provided [RCV001595409] ChrX:1286038 [GRCh38]
ChrY:1286038 [GRCh38]
ChrX:1404931 [GRCh37]
ChrY:1354931 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.811-84C>T single nucleotide variant not provided [RCV001688896] ChrX:1300407 [GRCh38]
ChrY:1300407 [GRCh38]
ChrX:1419300 [GRCh37]
ChrY:1369300 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-245G>C single nucleotide variant not provided [RCV001678132] ChrX:1288274 [GRCh38]
ChrY:1288274 [GRCh38]
ChrX:1407167 [GRCh37]
ChrY:1357167 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.780+135G>A single nucleotide variant not provided [RCV001669511] ChrX:1294596 [GRCh38]
ChrY:1294596 [GRCh38]
ChrX:1413489 [GRCh37]
ChrY:1363489 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.474-309TGTTT[2] microsatellite not provided [RCV001678174] ChrX:1290028..1290032 [GRCh38]
ChrY:1290028..1290032 [GRCh38]
ChrX:1408921..1408925 [GRCh37]
ChrY:1358921..1358925 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.*235C>T single nucleotide variant not provided [RCV001676879] ChrX:1309714 [GRCh38]
ChrY:1309714 [GRCh38]
ChrX:1428607 [GRCh37]
ChrY:1378607 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.77-58_77-46del deletion not provided [RCV001654667] ChrX:1285720..1285732 [GRCh38]
ChrY:1285720..1285732 [GRCh38]
ChrX:1404613..1404625 [GRCh37]
ChrY:1354613..1354625 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.781-265G>A single nucleotide variant not provided [RCV001674734] ChrX:1295162 [GRCh38]
ChrY:1295162 [GRCh38]
ChrX:1414055 [GRCh37]
ChrY:1364055 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-110A>G single nucleotide variant not provided [RCV001595669] ChrX:1288409 [GRCh38]
ChrY:1288409 [GRCh38]
ChrX:1407302 [GRCh37]
ChrY:1357302 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1126-149T>C single nucleotide variant not provided [RCV001677827] ChrX:1309253 [GRCh38]
ChrY:1309253 [GRCh38]
ChrX:1428146 [GRCh37]
ChrY:1378146 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.77-130C>G single nucleotide variant not provided [RCV001674960] ChrX:1285648 [GRCh38]
ChrY:1285648 [GRCh38]
ChrX:1404541 [GRCh37]
ChrY:1354541 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-311A>G single nucleotide variant not provided [RCV001621812] ChrX:1288208 [GRCh38]
ChrY:1288208 [GRCh38]
ChrX:1407101 [GRCh37]
ChrY:1357101 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.473+289G>A single nucleotide variant not provided [RCV001595803] ChrX:1289177 [GRCh38]
ChrY:1289177 [GRCh38]
ChrX:1408070 [GRCh37]
ChrY:1358070 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.780+103C>G single nucleotide variant not provided [RCV001672144] ChrX:1294564 [GRCh38]
ChrY:1294564 [GRCh38]
ChrX:1413457 [GRCh37]
ChrY:1363457 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.219+128G>A single nucleotide variant not provided [RCV001689254] ChrX:1286048 [GRCh38]
ChrY:1286048 [GRCh38]
ChrX:1404941 [GRCh37]
ChrY:1354941 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.-26-137A>G single nucleotide variant not provided [RCV001678146] ChrX:1282541 [GRCh38]
ChrY:1282541 [GRCh38]
ChrY:1351434 [GRCh37]
ChrX:1401434 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.810+147A>T single nucleotide variant not provided [RCV001676115] ChrX:1295603 [GRCh38]
ChrY:1295603 [GRCh38]
ChrX:1414496 [GRCh37]
ChrY:1364496 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-80G>A single nucleotide variant not provided [RCV001689037] ChrX:1288439 [GRCh38]
ChrY:1288439 [GRCh38]
ChrX:1407332 [GRCh37]
ChrY:1357332 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.647-286_647-285dup duplication not provided [RCV001637238] ChrX:1294041..1294042 [GRCh38]
ChrY:1294041..1294042 [GRCh38]
ChrX:1412934..1412935 [GRCh37]
ChrY:1362934..1362935 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-106C>T single nucleotide variant not provided [RCV001621399] ChrX:1288413 [GRCh38]
ChrY:1288413 [GRCh38]
ChrX:1407306 [GRCh37]
ChrY:1357306 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1044-74G>A single nucleotide variant not provided [RCV001686494] ChrX:1305372 [GRCh38]
ChrY:1305372 [GRCh38]
ChrX:1424265 [GRCh37]
ChrY:1374265 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.810+230A>G single nucleotide variant not provided [RCV001677791] ChrX:1295686 [GRCh38]
ChrY:1295686 [GRCh38]
ChrX:1414579 [GRCh37]
ChrY:1364579 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-240T>C single nucleotide variant not provided [RCV001620512] ChrX:1288279 [GRCh38]
ChrY:1288279 [GRCh38]
ChrX:1407172 [GRCh37]
ChrY:1357172 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.781-255C>T single nucleotide variant not provided [RCV001670420] ChrX:1295172 [GRCh38]
ChrY:1295172 [GRCh38]
ChrX:1414065 [GRCh37]
ChrY:1364065 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-131G>A single nucleotide variant not provided [RCV001686936] ChrX:1288388 [GRCh38]
ChrY:1288388 [GRCh38]
ChrY:1357281 [GRCh37]
ChrX:1407281 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1126-122A>G single nucleotide variant not provided [RCV001548682] ChrX:1309280 [GRCh38]
ChrY:1309280 [GRCh38]
ChrX:1428173 [GRCh37]
ChrY:1378173 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1044-232A>G single nucleotide variant not provided [RCV001686298] ChrX:1305214 [GRCh38]
ChrY:1305214 [GRCh38]
ChrY:1374107 [GRCh37]
ChrX:1424107 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1043+31T>C single nucleotide variant not provided [RCV001617278] ChrX:1304050 [GRCh38]
ChrY:1304050 [GRCh38]
ChrX:1422943 [GRCh37]
ChrY:1372943 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-222C>T single nucleotide variant not provided [RCV001621231] ChrX:1288297 [GRCh38]
ChrY:1288297 [GRCh38]
ChrX:1407190 [GRCh37]
ChrY:1357190 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.810+139G>A single nucleotide variant not provided [RCV001698578] ChrX:1295595 [GRCh38]
ChrY:1295595 [GRCh38]
ChrX:1414488 [GRCh37]
ChrY:1364488 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1118A>T (p.Glu373Val) single nucleotide variant not specified [RCV001194228] ChrX:1305520 [GRCh38]
ChrY:1305520 [GRCh38]
ChrX:1424413 [GRCh37]
ChrY:1374413 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.610C>T (p.Gln204Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001050755] ChrX:1290473 [GRCh38]
ChrY:1290473 [GRCh38]
ChrX:1409366 [GRCh37]
ChrY:1359366 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.-26-193G>A single nucleotide variant not provided [RCV001685736] ChrX:1282485 [GRCh38]
ChrY:1282485 [GRCh38]
ChrX:1401378 [GRCh37]
ChrY:1351378 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-95G>A single nucleotide variant not provided [RCV001694885] ChrX:1288424 [GRCh38]
ChrY:1288424 [GRCh38]
ChrX:1407317 [GRCh37]
ChrY:1357317 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.77-46G>A single nucleotide variant not provided [RCV001671917] ChrX:1285732 [GRCh38]
ChrY:1285732 [GRCh38]
ChrX:1404625 [GRCh37]
ChrY:1354625 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.*385C>G single nucleotide variant not provided [RCV001708485] ChrX:1309864 [GRCh38]
ChrY:1309864 [GRCh38]
ChrX:1428757 [GRCh37]
ChrY:1378757 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.-26-78dup duplication not provided [RCV001695283] ChrX:1282599..1282600 [GRCh38]
ChrY:1282599..1282600 [GRCh38]
ChrY:1351492..1351493 [GRCh37]
ChrX:1401492..1401493 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.780+323C>G single nucleotide variant not provided [RCV001691721] ChrX:1294784 [GRCh38]
ChrY:1294784 [GRCh38]
ChrX:1413677 [GRCh37]
ChrY:1363677 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.*366A>G single nucleotide variant not provided [RCV001693463] ChrX:1309845 [GRCh38]
ChrY:1309845 [GRCh38]
ChrX:1428738 [GRCh37]
ChrY:1378738 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.810+70G>A single nucleotide variant not provided [RCV001707270] ChrX:1295526 [GRCh38]
ChrY:1295526 [GRCh38]
ChrX:1414419 [GRCh37]
ChrY:1364419 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.780+78G>A single nucleotide variant not provided [RCV001582223] ChrX:1294539 [GRCh38]
ChrY:1294539 [GRCh38]
ChrX:1413432 [GRCh37]
ChrY:1363432 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.220-273C>G single nucleotide variant not provided [RCV001679018] ChrX:1288246 [GRCh38]
ChrY:1288246 [GRCh38]
ChrX:1407139 [GRCh37]
ChrY:1357139 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1125+415T>C single nucleotide variant not provided [RCV001648273] ChrX:1305942 [GRCh38]
ChrY:1305942 [GRCh38]
ChrX:1424835 [GRCh37]
ChrY:1374835 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-35T>C single nucleotide variant not provided [RCV001681345] ChrX:1288484 [GRCh38]
ChrY:1288484 [GRCh38]
ChrX:1407377 [GRCh37]
ChrY:1357377 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1064T>C (p.Leu355Pro) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001048373] ChrX:1305466 [GRCh38]
ChrY:1305466 [GRCh38]
ChrX:1424359 [GRCh37]
ChrY:1374359 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.474-143T>G single nucleotide variant not provided [RCV001683867] ChrX:1290194 [GRCh38]
ChrY:1290194 [GRCh38]
ChrX:1409087 [GRCh37]
ChrY:1359087 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.601A>C (p.Ile201Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001060192] ChrX:1290464 [GRCh38]
ChrY:1290464 [GRCh38]
ChrX:1409357 [GRCh37]
ChrY:1359357 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.131C>T (p.Thr44Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001247802] ChrX:1285832 [GRCh38]
ChrY:1285832 [GRCh38]
ChrX:1404725 [GRCh37]
ChrY:1354725 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001220008] ChrX:1282724 [GRCh38]
ChrY:1282724 [GRCh38]
ChrX:1401617 [GRCh37]
ChrY:1351617 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1070C>T (p.Pro357Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001216506] ChrX:1305472 [GRCh38]
ChrY:1305472 [GRCh38]
ChrX:1424365 [GRCh37]
ChrY:1374365 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1027G>A (p.Gly343Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001237000] ChrX:1304003 [GRCh38]
ChrY:1304003 [GRCh38]
ChrX:1422896 [GRCh37]
ChrY:1372896 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.137A>G (p.Asn46Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001036890] ChrX:1285838 [GRCh38]
ChrY:1285838 [GRCh38]
ChrX:1404731 [GRCh37]
ChrY:1354731 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.988C>T (p.Leu330Phe) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001207294] ChrX:1303964 [GRCh38]
ChrY:1303964 [GRCh38]
ChrX:1422857 [GRCh37]
ChrY:1372857 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.343+5G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001048563] ChrX:1288647 [GRCh38]
ChrY:1288647 [GRCh38]
ChrX:1407540 [GRCh37]
ChrY:1357540 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.836A>C (p.Asn279Thr) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001211231] ChrX:1300516 [GRCh38]
ChrY:1300516 [GRCh38]
ChrX:1419409 [GRCh37]
ChrY:1369409 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.208G>A (p.Val70Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001232135] ChrX:1285909 [GRCh38]
ChrY:1285909 [GRCh38]
ChrX:1404802 [GRCh37]
ChrY:1354802 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.780+4G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001042825] ChrX:1294465 [GRCh38]
ChrY:1294465 [GRCh38]
ChrX:1413358 [GRCh37]
ChrY:1363358 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.689C>T (p.Thr230Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003106190]|not provided [RCV001311050] ChrX:1294370 [GRCh38]
ChrY:1294370 [GRCh38]
ChrY:1363263 [GRCh37]
ChrX:1413263 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign|uncertain significance
NM_172245.4(CSF2RA):c.442G>A (p.Val148Ile) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001307444] ChrX:1288857 [GRCh38]
ChrY:1288857 [GRCh38]
ChrX:1407750 [GRCh37]
ChrY:1357750 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.926G>A (p.Trp309Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001335381] ChrX:1300606 [GRCh38]
ChrY:1300606 [GRCh38]
ChrX:1419499 [GRCh37]
ChrY:1369499 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001349002] ChrX:1309405 [GRCh38]
ChrY:1309405 [GRCh38]
ChrX:1428298 [GRCh37]
ChrY:1378298 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1111G>C (p.Glu371Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372512] ChrX:1305513 [GRCh38]
ChrY:1305513 [GRCh38]
ChrX:1424406 [GRCh37]
ChrY:1374406 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.798G>A (p.Thr266=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001413616] ChrX:1295444 [GRCh38]
ChrY:1295444 [GRCh38]
ChrX:1414337 [GRCh37]
ChrY:1364337 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.156A>G (p.Gln52=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001392400] ChrX:1285857 [GRCh38]
ChrY:1285857 [GRCh38]
ChrX:1404750 [GRCh37]
ChrY:1354750 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1148C>T (p.Pro383Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372828] ChrX:1309424 [GRCh38]
ChrY:1309424 [GRCh38]
ChrX:1428317 [GRCh37]
ChrY:1378317 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.101C>G (p.Ser34Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364184] ChrX:1285802 [GRCh38]
ChrY:1285802 [GRCh38]
ChrX:1404695 [GRCh37]
ChrY:1354695 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1006C>T (p.Leu336Phe) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001364881] ChrX:1303982 [GRCh38]
ChrY:1303982 [GRCh38]
ChrX:1422875 [GRCh37]
ChrY:1372875 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.43C>T (p.His15Tyr) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001372240] ChrX:1282746 [GRCh38]
ChrY:1282746 [GRCh38]
ChrX:1401639 [GRCh37]
ChrY:1351639 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.566G>A (p.Arg189His) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001323327] ChrX:1290429 [GRCh38]
ChrY:1290429 [GRCh38]
ChrX:1409322 [GRCh37]
ChrY:1359322 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.615C>A (p.Phe205Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001374339] ChrX:1290478 [GRCh38]
ChrY:1290478 [GRCh38]
ChrX:1409371 [GRCh37]
ChrY:1359371 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.780+3C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001347921] ChrX:1294464 [GRCh38]
ChrY:1294464 [GRCh38]
ChrX:1413357 [GRCh37]
ChrY:1363357 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1171G>A (p.Glu391Lys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001321332] ChrX:1309447 [GRCh38]
ChrY:1309447 [GRCh38]
ChrX:1428340 [GRCh37]
ChrY:1378340 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.335C>G (p.Pro112Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001353248] ChrX:1288634 [GRCh38]
ChrY:1288634 [GRCh38]
ChrX:1407527 [GRCh37]
ChrY:1357527 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.719C>T (p.Pro240Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001358932] ChrX:1294400 [GRCh38]
ChrY:1294400 [GRCh38]
ChrX:1413293 [GRCh37]
ChrY:1363293 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.707G>A (p.Arg236Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001369522] ChrX:1294388 [GRCh38]
ChrY:1294388 [GRCh38]
ChrY:1363281 [GRCh37]
ChrX:1413281 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001366043] ChrX:1295440 [GRCh38]
ChrY:1295440 [GRCh38]
ChrX:1414333 [GRCh37]
ChrY:1364333 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1056A>T (p.Ile352=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001424425] ChrX:1305458 [GRCh38]
ChrY:1305458 [GRCh38]
ChrX:1424351 [GRCh37]
ChrY:1374351 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.447G>A (p.Gln149=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470444] ChrX:1288862 [GRCh38]
ChrY:1288862 [GRCh38]
ChrX:1407755 [GRCh37]
ChrY:1357755 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.473+16_473+17del deletion Surfactant metabolism dysfunction, pulmonary, 4 [RCV001511735]|not provided [RCV001692399] ChrX:1288904..1288905 [GRCh38]
ChrY:1288904..1288905 [GRCh38]
ChrX:1407797..1407798 [GRCh37]
ChrY:1357797..1357798 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.82C>T (p.Arg28Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388457] ChrX:1285783 [GRCh38]
ChrY:1285783 [GRCh38]
ChrX:1404676 [GRCh37]
ChrY:1354676 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.693G>A (p.Thr231=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001521734] ChrX:1294374 [GRCh38]
ChrY:1294374 [GRCh38]
ChrX:1413267 [GRCh37]
ChrY:1363267 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.57C>T (p.Leu19=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001431987] ChrX:1282760 [GRCh38]
ChrY:1282760 [GRCh38]
ChrX:1401653 [GRCh37]
ChrY:1351653 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.393G>A (p.Ala131=) single nucleotide variant CSF2RA-related disorder [RCV003900777]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001523663] ChrX:1288808 [GRCh38]
ChrY:1288808 [GRCh38]
ChrX:1407701 [GRCh37]
ChrY:1357701 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
NM_172245.4(CSF2RA):c.77-6T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001427616] ChrX:1285772 [GRCh38]
ChrY:1285772 [GRCh38]
ChrX:1404665 [GRCh37]
ChrY:1354665 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1071G>T (p.Pro357=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001440879] ChrX:1305473 [GRCh38]
ChrY:1305473 [GRCh38]
ChrX:1424366 [GRCh37]
ChrY:1374366 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.273A>C (p.Gly91=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001448914] ChrX:1288572 [GRCh38]
ChrY:1288572 [GRCh38]
ChrX:1407465 [GRCh37]
ChrY:1357465 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.473+245A>G single nucleotide variant not provided [RCV001540117] ChrX:1289133 [GRCh38]
ChrY:1289133 [GRCh38]
ChrX:1408026 [GRCh37]
ChrY:1358026 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.140dup (p.Leu47fs) duplication Surfactant metabolism dysfunction, pulmonary, 4 [RCV001382275] ChrX:1285838..1285839 [GRCh38]
ChrY:1285838..1285839 [GRCh38]
ChrX:1404731..1404732 [GRCh37]
ChrY:1354731..1354732 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.900C>T (p.Asp300=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001407856] ChrX:1300580 [GRCh38]
ChrY:1300580 [GRCh38]
ChrX:1419473 [GRCh37]
ChrY:1369473 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.547del (p.Leu183fs) deletion Surfactant metabolism dysfunction, pulmonary, 4 [RCV001388704] ChrX:1290409 [GRCh38]
ChrY:1290409 [GRCh38]
ChrX:1409302 [GRCh37]
ChrY:1359302 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.690G>A (p.Thr230=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001437708] ChrX:1294371 [GRCh38]
ChrY:1294371 [GRCh38]
ChrX:1413264 [GRCh37]
ChrY:1363264 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1116G>A (p.Val372=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001442832] ChrX:1305518 [GRCh38]
ChrY:1305518 [GRCh38]
ChrX:1424411 [GRCh37]
ChrY:1374411 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.77-140_77-134del microsatellite not provided [RCV001673631] ChrX:1285629..1285635 [GRCh38]
ChrY:1285629..1285635 [GRCh38]
ChrX:1404522..1404528 [GRCh37]
ChrY:1354522..1354528 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.220-139G>A single nucleotide variant not provided [RCV001683972] ChrX:1288380 [GRCh38]
ChrY:1288380 [GRCh38]
ChrX:1407273 [GRCh37]
ChrY:1357273 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.946+109C>G single nucleotide variant not provided [RCV001673827] ChrX:1300735 [GRCh38]
ChrY:1300735 [GRCh38]
ChrX:1419628 [GRCh37]
ChrY:1369628 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.647-47G>A single nucleotide variant not provided [RCV001588590] ChrX:1294281 [GRCh38]
ChrY:1294281 [GRCh38]
ChrX:1413174 [GRCh37]
ChrY:1363174 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.947-251G>A single nucleotide variant not provided [RCV001695749] ChrX:1303672 [GRCh38]
ChrY:1303672 [GRCh38]
ChrX:1422565 [GRCh37]
ChrY:1372565 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.946+52C>G single nucleotide variant not provided [RCV001655133] ChrX:1300678 [GRCh38]
ChrY:1300678 [GRCh38]
ChrX:1419571 [GRCh37]
ChrY:1369571 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.474-144G>T single nucleotide variant not provided [RCV001667310] ChrX:1290193 [GRCh38]
ChrY:1290193 [GRCh38]
ChrX:1409086 [GRCh37]
ChrY:1359086 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.219+42C>T single nucleotide variant not provided [RCV001587724] ChrX:1285962 [GRCh38]
ChrY:1285962 [GRCh38]
ChrX:1404855 [GRCh37]
ChrY:1354855 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.946+7G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001480542] ChrX:1300633 [GRCh38]
ChrY:1300633 [GRCh38]
ChrX:1419526 [GRCh37]
ChrY:1369526 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.525T>C (p.His175=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001470759] ChrX:1290388 [GRCh38]
ChrY:1290388 [GRCh38]
ChrX:1409281 [GRCh37]
ChrY:1359281 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.77-118G>C single nucleotide variant not provided [RCV001665709] ChrX:1285660 [GRCh38]
ChrY:1285660 [GRCh38]
ChrX:1404553 [GRCh37]
ChrY:1354553 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.646+18G>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001518351]|not provided [RCV001658213] ChrX:1290527 [GRCh38]
ChrY:1290527 [GRCh38]
ChrX:1409420 [GRCh37]
ChrY:1359420 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.77-204C>A single nucleotide variant not provided [RCV001681247] ChrX:1285574 [GRCh38]
ChrY:1285574 [GRCh38]
ChrX:1404467 [GRCh37]
ChrY:1354467 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.855C>T (p.Ser285=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490038] ChrX:1300535 [GRCh38]
ChrY:1300535 [GRCh38]
ChrX:1419428 [GRCh37]
ChrY:1369428 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.216C>G (p.Pro72=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001490040] ChrX:1285917 [GRCh38]
ChrY:1285917 [GRCh38]
ChrX:1404810 [GRCh37]
ChrY:1354810 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.585C>T (p.Asn195=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001500144]|not provided [RCV003992529] ChrX:1290448 [GRCh38]
ChrY:1290448 [GRCh38]
ChrX:1409341 [GRCh37]
ChrY:1359341 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.741G>A (p.Ser247=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001473843] ChrX:1294422 [GRCh38]
ChrY:1294422 [GRCh38]
ChrX:1413315 [GRCh37]
ChrY:1363315 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.417G>A (p.Ala139=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001461869] ChrX:1288832 [GRCh38]
ChrY:1288832 [GRCh38]
ChrX:1407725 [GRCh37]
ChrY:1357725 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.556T>C (p.Leu186=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001434357] ChrX:1290419 [GRCh38]
ChrY:1290419 [GRCh38]
ChrX:1409312 [GRCh37]
ChrY:1359312 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1125+17G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001511411]|not provided [RCV004714222] ChrX:1305544 [GRCh38]
ChrY:1305544 [GRCh38]
ChrX:1424437 [GRCh37]
ChrY:1374437 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1026C>T (p.Leu342=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001400187]|not provided [RCV004704527] ChrX:1304002 [GRCh38]
ChrY:1304002 [GRCh38]
ChrX:1422895 [GRCh37]
ChrY:1372895 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.219+19T>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001511916]|not provided [RCV001615181] ChrX:1285939 [GRCh38]
ChrY:1285939 [GRCh38]
ChrX:1404832 [GRCh37]
ChrY:1354832 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.87A>G (p.Thr29=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001499791] ChrX:1285788 [GRCh38]
ChrY:1285788 [GRCh38]
ChrY:1354681 [GRCh37]
ChrX:1404681 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.810+2T>A single nucleotide variant CSF2RA-related disorder [RCV004752118]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970797] ChrX:1295458 [GRCh38]
ChrY:1295458 [GRCh38]
ChrX:1414351 [GRCh37]
ChrY:1364351 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely pathogenic
NM_172245.4(CSF2RA):c.679C>T (p.Arg227Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896178] ChrX:1294360 [GRCh38]
ChrY:1294360 [GRCh38]
ChrX:1413253 [GRCh37]
ChrY:1363253 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.477_479del (p.Arg161del) deletion Surfactant metabolism dysfunction, pulmonary, 4 [RCV001969744] ChrX:1290338..1290340 [GRCh38]
ChrY:1290338..1290340 [GRCh38]
ChrX:1409231..1409233 [GRCh37]
ChrY:1359231..1359233 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.901G>T (p.Val301Phe) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001915391] ChrX:1300581 [GRCh38]
ChrY:1300581 [GRCh38]
ChrX:1419474 [GRCh37]
ChrY:1369474 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.104G>A (p.Ser35Asn) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001896785] ChrX:1285805 [GRCh38]
ChrY:1285805 [GRCh38]
ChrX:1404698 [GRCh37]
ChrY:1354698 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1143C>G (p.Phe381Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001930118] ChrX:1309419 [GRCh38]
ChrY:1309419 [GRCh38]
ChrX:1428312 [GRCh37]
ChrY:1378312 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1168C>T (p.Arg390Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001970661] ChrX:1309444 [GRCh38]
ChrY:1309444 [GRCh38]
ChrX:1428337 [GRCh37]
ChrY:1378337 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.766G>A (p.Asp256Asn) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001908411] ChrX:1294447 [GRCh38]
ChrY:1294447 [GRCh38]
ChrX:1413340 [GRCh37]
ChrY:1363340 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.20G>A (p.Ser7Asn) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893137] ChrX:1282723 [GRCh38]
ChrY:1282723 [GRCh38]
ChrX:1401616 [GRCh37]
ChrY:1351616 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.416C>G (p.Ala139Gly) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001947270] ChrX:1288831 [GRCh38]
ChrY:1288831 [GRCh38]
ChrX:1407724 [GRCh37]
ChrY:1357724 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.703G>A (p.Val235Ile) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001968117] ChrX:1294384 [GRCh38]
ChrY:1294384 [GRCh38]
ChrX:1413277 [GRCh37]
ChrY:1363277 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1045T>C (p.Phe349Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002039845] ChrX:1305447 [GRCh38]
ChrY:1305447 [GRCh38]
ChrX:1424340 [GRCh37]
ChrY:1374340 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.700C>A (p.Leu234Ile) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001926737] ChrY:1294381 [GRCh38]
ChrX:1294381 [GRCh38]
ChrX:1413274 [GRCh37]
ChrY:1363274 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.872A>G (p.Lys291Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001893378] ChrX:1300552 [GRCh38]
ChrY:1300552 [GRCh38]
ChrX:1419445 [GRCh37]
ChrY:1369445 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.703G>T (p.Val235Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001891481] ChrX:1294384 [GRCh38]
ChrY:1294384 [GRCh38]
ChrX:1413277 [GRCh37]
ChrY:1363277 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.797C>T (p.Thr266Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001945565] ChrX:1295443 [GRCh38]
ChrY:1295443 [GRCh38]
ChrX:1414336 [GRCh37]
ChrY:1364336 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.250C>T (p.Arg84Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997823] ChrX:1288549 [GRCh38]
ChrY:1288549 [GRCh38]
ChrX:1407442 [GRCh37]
ChrY:1357442 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.239C>T (p.Ser80Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001997896] ChrX:1288538 [GRCh38]
ChrY:1288538 [GRCh38]
ChrX:1407431 [GRCh37]
ChrY:1357431 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.938T>A (p.Ile313Asn) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001901197] ChrX:1300618 [GRCh38]
ChrY:1300618 [GRCh38]
ChrX:1419511 [GRCh37]
ChrY:1369511 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1123G>C (p.Glu375Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030465] ChrX:1305525 [GRCh38]
ChrY:1305525 [GRCh38]
ChrX:1424418 [GRCh37]
ChrY:1374418 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.502T>A (p.Tyr168Asn) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001978576] ChrX:1290365 [GRCh38]
ChrY:1290365 [GRCh38]
ChrX:1409258 [GRCh37]
ChrY:1359258 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1123G>A (p.Glu375Lys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992480] ChrX:1305525 [GRCh38]
ChrY:1305525 [GRCh38]
ChrX:1424418 [GRCh37]
ChrY:1374418 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1015G>A (p.Gly339Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002010876] ChrX:1303991 [GRCh38]
ChrY:1303991 [GRCh38]
ChrX:1422884 [GRCh37]
ChrY:1372884 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.536A>G (p.His179Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001876679] ChrX:1290399 [GRCh38]
ChrY:1290399 [GRCh38]
ChrX:1409292 [GRCh37]
ChrY:1359292 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1037T>A (p.Phe346Tyr) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015869] ChrX:1304013 [GRCh38]
ChrY:1304013 [GRCh38]
ChrX:1422906 [GRCh37]
ChrY:1372906 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.425C>A (p.Pro142Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001995424] ChrX:1288840 [GRCh38]
ChrY:1288840 [GRCh38]
ChrX:1407733 [GRCh37]
ChrY:1357733 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.787C>T (p.Gln263Ter) single nucleotide variant CSF2RA-related disorder [RCV003394301]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV001934649] ChrX:1295433 [GRCh38]
ChrY:1295433 [GRCh38]
ChrX:1414326 [GRCh37]
ChrY:1364326 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic|likely pathogenic
NM_172245.4(CSF2RA):c.599A>T (p.Glu200Val) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030446] ChrX:1290462 [GRCh38]
ChrY:1290462 [GRCh38]
ChrX:1409355 [GRCh37]
ChrY:1359355 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.617T>C (p.Phe206Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001885635] ChrX:1290480 [GRCh38]
ChrY:1290480 [GRCh38]
ChrX:1409373 [GRCh37]
ChrY:1359373 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.917G>A (p.Trp306Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001982285] ChrX:1300597 [GRCh38]
ChrY:1300597 [GRCh38]
ChrX:1419490 [GRCh37]
ChrY:1369490 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.680G>A (p.Arg227His) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001923957] ChrX:1294361 [GRCh38]
ChrY:1294361 [GRCh38]
ChrX:1413254 [GRCh37]
ChrY:1363254 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.877A>C (p.Ser293Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001990110] ChrX:1300557 [GRCh38]
ChrY:1300557 [GRCh38]
ChrX:1419450 [GRCh37]
ChrY:1369450 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.646+3G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001981946] ChrX:1290512 [GRCh38]
ChrY:1290512 [GRCh38]
ChrX:1409405 [GRCh37]
ChrY:1359405 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.416C>T (p.Ala139Val) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001867754] ChrX:1288831 [GRCh38]
ChrY:1288831 [GRCh38]
ChrX:1407724 [GRCh37]
ChrY:1357724 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.414G>A (p.Trp138Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002035251] ChrX:1288829 [GRCh38]
ChrY:1288829 [GRCh38]
ChrX:1407722 [GRCh37]
ChrY:1357722 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.461T>C (p.Ile154Thr) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001980397] ChrX:1288876 [GRCh38]
ChrY:1288876 [GRCh38]
ChrX:1407769 [GRCh37]
ChrY:1357769 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.14T>C (p.Val5Ala) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001907303] ChrX:1282717 [GRCh38]
ChrY:1282717 [GRCh38]
ChrY:1351610 [GRCh37]
ChrX:1401610 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.592A>G (p.Ser198Gly) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001870181] ChrX:1290455 [GRCh38]
ChrY:1290455 [GRCh38]
ChrX:1409348 [GRCh37]
ChrY:1359348 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1186G>A (p.Val396Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001992824] ChrX:1309462 [GRCh38]
ChrY:1309462 [GRCh38]
ChrX:1428355 [GRCh37]
ChrY:1378355 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.366G>C (p.Gln122His) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002030821] ChrX:1288781 [GRCh38]
ChrY:1288781 [GRCh38]
ChrX:1407674 [GRCh37]
ChrY:1357674 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1021G>A (p.Val341Ile) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001989459] ChrX:1303997 [GRCh38]
ChrY:1303997 [GRCh38]
ChrX:1422890 [GRCh37]
ChrY:1372890 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1027G>T (p.Gly343Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002015751] ChrX:1304003 [GRCh38]
ChrY:1304003 [GRCh38]
ChrX:1422896 [GRCh37]
ChrY:1372896 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.27G>A (p.Leu9=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002169607] ChrX:1282730 [GRCh38]
ChrY:1282730 [GRCh38]
ChrX:1401623 [GRCh37]
ChrY:1351623 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.76+7A>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002167966] ChrX:1282786 [GRCh38]
ChrY:1282786 [GRCh38]
ChrX:1401679 [GRCh37]
ChrY:1351679 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.663C>A (p.Pro221=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002192360] ChrX:1294344 [GRCh38]
ChrY:1294344 [GRCh38]
ChrX:1413237 [GRCh37]
ChrY:1363237 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1044-20A>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002205129] ChrX:1305426 [GRCh38]
ChrY:1305426 [GRCh38]
ChrY:1374319 [GRCh37]
ChrX:1424319 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1020C>T (p.Ile340=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002210226] ChrX:1303996 [GRCh38]
ChrY:1303996 [GRCh38]
ChrX:1422889 [GRCh37]
ChrY:1372889 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.473+19_473+20del microsatellite Surfactant metabolism dysfunction, pulmonary, 4 [RCV002091885] ChrX:1288905..1288906 [GRCh38]
ChrY:1288905..1288906 [GRCh38]
ChrX:1407798..1407799 [GRCh37]
ChrY:1357798..1357799 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.344-12A>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002191471] ChrX:1288747 [GRCh38]
ChrY:1288747 [GRCh38]
ChrX:1407640 [GRCh37]
ChrY:1357640 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.811-19T>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002144985] ChrX:1300472 [GRCh38]
ChrY:1300472 [GRCh38]
ChrX:1419365 [GRCh37]
ChrY:1369365 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.780+17C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002091796] ChrX:1294478 [GRCh38]
ChrY:1294478 [GRCh38]
ChrX:1413371 [GRCh37]
ChrY:1363371 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.647-15G>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002072512] ChrX:1294313 [GRCh38]
ChrY:1294313 [GRCh38]
ChrX:1413206 [GRCh37]
ChrY:1363206 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.132G>T (p.Thr44=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002131939] ChrX:1285833 [GRCh38]
ChrY:1285833 [GRCh38]
ChrX:1404726 [GRCh37]
ChrY:1354726 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.646+20T>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002172646] ChrX:1290529 [GRCh38]
ChrY:1290529 [GRCh38]
ChrX:1409422 [GRCh37]
ChrY:1359422 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.781-20G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002153078] ChrX:1295407 [GRCh38]
ChrY:1295407 [GRCh38]
ChrX:1414300 [GRCh37]
ChrY:1364300 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.219+7C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002073635] ChrX:1285927 [GRCh38]
ChrY:1285927 [GRCh38]
ChrX:1404820 [GRCh37]
ChrY:1354820 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.960G>C (p.Gly320=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002095363] ChrX:1303936 [GRCh38]
ChrY:1303936 [GRCh38]
ChrX:1422829 [GRCh37]
ChrY:1372829 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.811-4A>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002113876] ChrX:1300487 [GRCh38]
ChrY:1300487 [GRCh38]
ChrY:1369380 [GRCh37]
ChrX:1419380 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.207C>T (p.Val69=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002097431] ChrX:1285908 [GRCh38]
ChrY:1285908 [GRCh38]
ChrX:1404801 [GRCh37]
ChrY:1354801 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.708G>A (p.Arg236=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002173581] ChrX:1294389 [GRCh38]
ChrY:1294389 [GRCh38]
ChrX:1413282 [GRCh37]
ChrY:1363282 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.426G>A (p.Pro142=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002086017] ChrX:1288841 [GRCh38]
ChrY:1288841 [GRCh38]
ChrX:1407734 [GRCh37]
ChrY:1357734 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.647-13G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002107060] ChrX:1294315 [GRCh38]
ChrY:1294315 [GRCh38]
ChrY:1363208 [GRCh37]
ChrX:1413208 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1185C>T (p.Thr395=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002171315] ChrX:1309461 [GRCh38]
ChrY:1309461 [GRCh38]
ChrX:1428354 [GRCh37]
ChrY:1378354 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.946+18G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002153112] ChrX:1300644 [GRCh38]
ChrY:1300644 [GRCh38]
ChrX:1419537 [GRCh37]
ChrY:1369537 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.946+8T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002075623] ChrX:1300634 [GRCh38]
ChrY:1300634 [GRCh38]
ChrX:1419527 [GRCh37]
ChrY:1369527 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.473+17T>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002094373] ChrX:1288905 [GRCh38]
ChrY:1288905 [GRCh38]
ChrX:1407798 [GRCh37]
ChrY:1357798 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.954C>T (p.Asp318=) single nucleotide variant CSF2RA-related disorder [RCV003978667]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002115629] ChrX:1303930 [GRCh38]
ChrY:1303930 [GRCh38]
ChrX:1422823 [GRCh37]
ChrY:1372823 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.183C>T (p.Phe61=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002207402] ChrX:1285884 [GRCh38]
ChrY:1285884 [GRCh38]
ChrX:1404777 [GRCh37]
ChrY:1354777 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.474-9A>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002206151] ChrX:1290328 [GRCh38]
ChrY:1290328 [GRCh38]
ChrX:1409221 [GRCh37]
ChrY:1359221 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.418A>C (p.Arg140=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002103683] ChrX:1288833 [GRCh38]
ChrY:1288833 [GRCh38]
ChrX:1407726 [GRCh37]
ChrY:1357726 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.240G>C (p.Ser80=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002177025] ChrX:1288539 [GRCh38]
ChrY:1288539 [GRCh38]
ChrY:1357432 [GRCh37]
ChrX:1407432 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.344-4C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002100560] ChrX:1288755 [GRCh38]
ChrY:1288755 [GRCh38]
ChrX:1407648 [GRCh37]
ChrY:1357648 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.473+12C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002117769] ChrX:1288900 [GRCh38]
ChrY:1288900 [GRCh38]
ChrX:1407793 [GRCh37]
ChrY:1357793 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.77-14C>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002175609] ChrX:1285764 [GRCh38]
ChrY:1285764 [GRCh38]
ChrX:1404657 [GRCh37]
ChrY:1354657 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.946+13C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002179429] ChrX:1300639 [GRCh38]
ChrY:1300639 [GRCh38]
ChrX:1419532 [GRCh37]
ChrY:1369532 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.408T>C (p.Cys136=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002083170] ChrX:1288823 [GRCh38]
ChrY:1288823 [GRCh38]
ChrX:1407716 [GRCh37]
ChrY:1357716 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.77-16T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002098403]|not provided [RCV004704730] ChrX:1285762 [GRCh38]
ChrY:1285762 [GRCh38]
ChrX:1404655 [GRCh37]
ChrY:1354655 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.77-12C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002175892] ChrX:1285766 [GRCh38]
ChrY:1285766 [GRCh38]
ChrX:1404659 [GRCh37]
ChrY:1354659 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.240G>A (p.Ser80=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002200417] ChrX:1288539 [GRCh38]
ChrY:1288539 [GRCh38]
ChrX:1407432 [GRCh37]
ChrY:1357432 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.344-20T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002122025] ChrX:1288739 [GRCh38]
ChrY:1288739 [GRCh38]
ChrX:1407632 [GRCh37]
ChrY:1357632 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.220-18C>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002102586] ChrX:1288501 [GRCh38]
ChrY:1288501 [GRCh38]
ChrX:1407394 [GRCh37]
ChrY:1357394 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1044-11_1044-10del microsatellite CSF2RA-related disorder [RCV003895826]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV002141769] ChrX:1305432..1305433 [GRCh38]
ChrY:1305432..1305433 [GRCh38]
ChrX:1424325..1424326 [GRCh37]
ChrY:1374325..1374326 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.370T>G (p.Phe124Val) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003118165] ChrX:1288785 [GRCh38]
ChrY:1288785 [GRCh38]
ChrX:1407678 [GRCh37]
ChrY:1357678 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.649C>T (p.Arg217Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249845] ChrX:1294330 [GRCh38]
ChrY:1294330 [GRCh38]
ChrX:1413223 [GRCh37]
ChrY:1363223 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs) duplication Surfactant metabolism dysfunction, pulmonary, 4 [RCV002249846] ChrX:1300599..1300600 [GRCh38]
ChrY:1300599..1300600 [GRCh38]
ChrX:1419492..1419493 [GRCh37]
ChrY:1369492..1369493 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296342] ChrX:1288829 [GRCh38]
ChrY:1288829 [GRCh38]
ChrX:1407722 [GRCh37]
ChrY:1357722 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002296382] ChrX:1288771 [GRCh38]
ChrY:1288771 [GRCh38]
ChrX:1407664 [GRCh37]
ChrY:1357664 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002614541] ChrX:1300614 [GRCh38]
ChrY:1300614 [GRCh38]
ChrX:1419507 [GRCh37]
ChrY:1369507 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.811-11T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003016208] ChrX:1300480 [GRCh38]
ChrY:1300480 [GRCh38]
ChrX:1419373 [GRCh37]
ChrY:1369373 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002842927] ChrX:1300548 [GRCh38]
ChrY:1300548 [GRCh38]
ChrX:1419441 [GRCh37]
ChrY:1369441 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.219+18T>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002636080] ChrX:1285938 [GRCh38]
ChrY:1285938 [GRCh38]
ChrX:1404831 [GRCh37]
ChrY:1354831 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.677T>C (p.Val226Ala) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003076590] ChrX:1294358 [GRCh38]
ChrY:1294358 [GRCh38]
ChrX:1413251 [GRCh37]
ChrY:1363251 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1043+19G>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002618777] ChrX:1304038 [GRCh38]
ChrY:1304038 [GRCh38]
ChrY:1372931 [GRCh37]
ChrX:1422931 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.947-14G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002815842] ChrX:1303909 [GRCh38]
ChrY:1303909 [GRCh38]
ChrX:1422802 [GRCh37]
ChrY:1372802 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.647-2A>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002685690] ChrX:1294326 [GRCh38]
ChrY:1294326 [GRCh38]
ChrY:1363219 [GRCh37]
ChrX:1413219 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely pathogenic
NM_172245.4(CSF2RA):c.586G>C (p.Gly196Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002731000] ChrX:1290449 [GRCh38]
ChrY:1290449 [GRCh38]
ChrY:1359342 [GRCh37]
ChrX:1409342 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely pathogenic
NM_172245.4(CSF2RA):c.768C>T (p.Asp256=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002975326] ChrX:1294449 [GRCh38]
ChrY:1294449 [GRCh38]
ChrX:1413342 [GRCh37]
ChrY:1363342 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.473+17T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002889453] ChrX:1288905 [GRCh38]
ChrY:1288905 [GRCh38]
ChrX:1407798 [GRCh37]
ChrY:1357798 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.720C>T (p.Pro240=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002593165] ChrX:1294401 [GRCh38]
ChrY:1294401 [GRCh38]
ChrX:1413294 [GRCh37]
ChrY:1363294 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.825T>C (p.Gly275=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002871165] ChrX:1300505 [GRCh38]
ChrY:1300505 [GRCh38]
ChrY:1369398 [GRCh37]
ChrX:1419398 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1125+20G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002913041] ChrX:1305547 [GRCh38]
ChrY:1305547 [GRCh38]
ChrX:1424440 [GRCh37]
ChrY:1374440 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.495T>C (p.Cys165=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018088] ChrX:1290358 [GRCh38]
ChrY:1290358 [GRCh38]
ChrX:1409251 [GRCh37]
ChrY:1359251 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003018806] ChrX:1309448 [GRCh38]
ChrY:1309448 [GRCh38]
ChrX:1428341 [GRCh37]
ChrY:1378341 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.473+14_473+15del deletion Surfactant metabolism dysfunction, pulmonary, 4 [RCV002866587] ChrX:1288901..1288902 [GRCh38]
ChrY:1288901..1288902 [GRCh38]
ChrX:1407794..1407795 [GRCh37]
ChrY:1357794..1357795 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002619235] ChrX:1300613 [GRCh38]
ChrY:1300613 [GRCh38]
ChrX:1419506 [GRCh37]
ChrY:1369506 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.344-16T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003080203] ChrX:1288743 [GRCh38]
ChrY:1288743 [GRCh38]
ChrX:1407636 [GRCh37]
ChrY:1357636 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.341C>G (p.Ser114Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002923619] ChrX:1288640 [GRCh38]
ChrY:1288640 [GRCh38]
ChrX:1407533 [GRCh37]
ChrY:1357533 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.231C>T (p.Asn77=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002659281] ChrX:1288530 [GRCh38]
ChrY:1288530 [GRCh38]
ChrX:1407423 [GRCh37]
ChrY:1357423 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.810+11C>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002801332] ChrX:1295467 [GRCh38]
ChrY:1295467 [GRCh38]
ChrX:1414360 [GRCh37]
ChrY:1364360 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.318A>G (p.Gln106=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002932324] ChrX:1288617 [GRCh38]
ChrY:1288617 [GRCh38]
ChrX:1407510 [GRCh37]
ChrY:1357510 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1169G>A (p.Arg390His) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003085921] ChrX:1309445 [GRCh38]
ChrY:1309445 [GRCh38]
ChrX:1428338 [GRCh37]
ChrY:1378338 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002667275] ChrX:1290360 [GRCh38]
ChrY:1290360 [GRCh38]
ChrX:1409253 [GRCh37]
ChrY:1359253 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002765673] ChrX:1282738 [GRCh38]
ChrY:1282738 [GRCh38]
ChrX:1401631 [GRCh37]
ChrY:1351631 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003056357] ChrX:1282720 [GRCh38]
ChrY:1282720 [GRCh38]
ChrX:1401613 [GRCh37]
ChrY:1351613 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.957C>T (p.Asp319=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003003360] ChrX:1303933 [GRCh38]
ChrY:1303933 [GRCh38]
ChrX:1422826 [GRCh37]
ChrY:1372826 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003023010] ChrX:1295428 [GRCh38]
ChrY:1295428 [GRCh38]
ChrX:1414321 [GRCh37]
ChrY:1364321 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.647-13G>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002574284] ChrX:1294315 [GRCh38]
ChrY:1294315 [GRCh38]
ChrX:1413208 [GRCh37]
ChrY:1363208 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003007360] ChrX:1290378 [GRCh38]
ChrY:1290378 [GRCh38]
ChrX:1409271 [GRCh37]
ChrY:1359271 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1125+16C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002624865] ChrX:1305543 [GRCh38]
ChrY:1305543 [GRCh38]
ChrX:1424436 [GRCh37]
ChrY:1374436 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003040976] ChrX:1295448 [GRCh38]
ChrY:1295448 [GRCh38]
ChrX:1414341 [GRCh37]
ChrY:1364341 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.219+8G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002805349] ChrX:1285928 [GRCh38]
ChrY:1285928 [GRCh38]
ChrY:1354821 [GRCh37]
ChrX:1404821 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.447G>C (p.Gln149His) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002957876] ChrX:1288862 [GRCh38]
ChrY:1288862 [GRCh38]
ChrX:1407755 [GRCh37]
ChrY:1357755 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.893C>T (p.Ala298Val) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002805374] ChrX:1300573 [GRCh38]
ChrY:1300573 [GRCh38]
ChrX:1419466 [GRCh37]
ChrY:1369466 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.344-5C>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002985302] ChrX:1288754 [GRCh38]
ChrY:1288754 [GRCh38]
ChrX:1407647 [GRCh37]
ChrY:1357647 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.76+17G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002806573] ChrX:1282796 [GRCh38]
ChrY:1282796 [GRCh38]
ChrX:1401689 [GRCh37]
ChrY:1351689 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003090046] ChrX:1290453 [GRCh38]
ChrY:1290453 [GRCh38]
ChrX:1409346 [GRCh37]
ChrY:1359346 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.474-15T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002597408] ChrX:1290322 [GRCh38]
ChrY:1290322 [GRCh38]
ChrX:1409215 [GRCh37]
ChrY:1359215 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.77-11G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002933485] ChrX:1285767 [GRCh38]
ChrY:1285767 [GRCh38]
ChrX:1404660 [GRCh37]
ChrY:1354660 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.552A>G (p.Ser184=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002598592] ChrX:1290415 [GRCh38]
ChrY:1290415 [GRCh38]
ChrX:1409308 [GRCh37]
ChrY:1359308 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.350_353del (p.Glu117fs) microsatellite Surfactant metabolism dysfunction, pulmonary, 4 [RCV003009901] ChrX:1288761..1288764 [GRCh38]
ChrY:1288761..1288764 [GRCh38]
ChrX:1407654..1407657 [GRCh37]
ChrY:1357654..1357657 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002601082] ChrX:1300514 [GRCh38]
ChrY:1300514 [GRCh38]
ChrX:1419407 [GRCh37]
ChrY:1369407 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.343+14C>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002599362] ChrX:1288656 [GRCh38]
ChrY:1288656 [GRCh38]
ChrX:1407549 [GRCh37]
ChrY:1357549 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002833885] ChrX:1294370 [GRCh38]
ChrY:1294370 [GRCh38]
ChrX:1413263 [GRCh37]
ChrY:1363263 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.77-3C>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002725864] ChrX:1285775 [GRCh38]
ChrY:1285775 [GRCh38]
ChrX:1404668 [GRCh37]
ChrY:1354668 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002634004] ChrX:1294331 [GRCh38]
ChrY:1294331 [GRCh38]
ChrX:1413224 [GRCh37]
ChrY:1363224 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003067164] ChrX:1305472 [GRCh38]
ChrY:1305472 [GRCh38]
ChrX:1424365 [GRCh37]
ChrY:1374365 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1110T>C (p.His370=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002585692] ChrX:1305512 [GRCh38]
ChrY:1305512 [GRCh38]
ChrX:1424405 [GRCh37]
ChrY:1374405 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.266A>G (p.His89Arg) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003072770] ChrX:1288565 [GRCh38]
ChrY:1288565 [GRCh38]
ChrX:1407458 [GRCh37]
ChrY:1357458 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.781-12T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002587078] ChrX:1295415 [GRCh38]
ChrY:1295415 [GRCh38]
ChrX:1414308 [GRCh37]
ChrY:1364308 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1128C>A (p.Ile376=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002606082] ChrX:1309404 [GRCh38]
ChrY:1309404 [GRCh38]
ChrX:1428297 [GRCh37]
ChrY:1378297 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1043+1G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002611923] ChrX:1304020 [GRCh38]
ChrY:1304020 [GRCh38]
ChrX:1422913 [GRCh37]
ChrY:1372913 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely pathogenic
NM_172245.4(CSF2RA):c.25C>T (p.Leu9=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003070301] ChrX:1282728 [GRCh38]
ChrY:1282728 [GRCh38]
ChrX:1401621 [GRCh37]
ChrY:1351621 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.946+14G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV002610234] ChrX:1300640 [GRCh38]
ChrY:1300640 [GRCh38]
ChrX:1419533 [GRCh37]
ChrY:1369533 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.*44G>A single nucleotide variant not provided [RCV003228148] ChrX:1309523 [GRCh38]
ChrY:1309523 [GRCh38]
ChrX:1428416 [GRCh37]
ChrY:1378416 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.810+20C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623224] ChrX:1295476 [GRCh38]
ChrY:1295476 [GRCh38]
ChrX:1414369 [GRCh37]
ChrY:1364369 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.531A>T (p.Gly177=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623236] ChrX:1290394 [GRCh38]
ChrY:1290394 [GRCh38]
ChrX:1409287 [GRCh37]
ChrY:1359287 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.780+18G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623838] ChrX:1294479 [GRCh38]
ChrY:1294479 [GRCh38]
ChrX:1413372 [GRCh37]
ChrY:1363372 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.220-12G>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623534] ChrX:1288507 [GRCh38]
ChrY:1288507 [GRCh38]
ChrX:1407400 [GRCh37]
ChrY:1357400 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.781-18G>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623635] ChrX:1295409 [GRCh38]
ChrY:1295409 [GRCh38]
ChrX:1414302 [GRCh37]
ChrY:1364302 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.77-18A>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003874661] ChrX:1285760 [GRCh38]
ChrY:1285760 [GRCh38]
ChrX:1404653 [GRCh37]
ChrY:1354653 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.220-10A>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623652] ChrX:1288509 [GRCh38]
ChrY:1288509 [GRCh38]
ChrX:1407402 [GRCh37]
ChrY:1357402 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.726C>A (p.Thr242=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003623754] ChrX:1294407 [GRCh38]
ChrY:1294407 [GRCh38]
ChrX:1413300 [GRCh37]
ChrY:1363300 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.76+11A>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622458] ChrX:1282790 [GRCh38]
ChrY:1282790 [GRCh38]
ChrX:1401683 [GRCh37]
ChrY:1351683 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622477] ChrX:1285798 [GRCh38]
ChrY:1285798 [GRCh38]
ChrX:1404691 [GRCh37]
ChrY:1354691 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.147G>A (p.Trp49Ter) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622520] ChrX:1285848 [GRCh38]
ChrY:1285848 [GRCh38]
ChrX:1404741 [GRCh37]
ChrY:1354741 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.865del (p.Arg289fs) deletion Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622684] ChrX:1300545 [GRCh38]
ChrY:1300545 [GRCh38]
ChrX:1419438 [GRCh37]
ChrY:1369438 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 pathogenic
NM_172245.4(CSF2RA):c.537C>T (p.His179=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622659] ChrX:1290400 [GRCh38]
ChrY:1290400 [GRCh38]
ChrX:1409293 [GRCh37]
ChrY:1359293 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_001379159.1(CSF2RA):c.*39-2557C>T single nucleotide variant not provided [RCV003440863] ChrX:1322471 [GRCh38]
ChrY:1322471 [GRCh38]
ChrX:1441364 [GRCh37]
ChrY:1391364 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.*48C>T single nucleotide variant CSF2RA-related disorder [RCV003412157] ChrY:1309527 [GRCh38]
ChrX:1309527 [GRCh38]
ChrX:1428420 [GRCh37]
ChrY:1378420 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.1167C>T (p.Tyr389=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003831429] ChrX:1309443 [GRCh38]
ChrY:1309443 [GRCh38]
ChrX:1428336 [GRCh37]
ChrY:1378336 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.810+18C>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510443] ChrX:1295474 [GRCh38]
ChrY:1295474 [GRCh38]
ChrX:1414367 [GRCh37]
ChrY:1364367 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.343+19G>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003876665] ChrX:1288661 [GRCh38]
ChrY:1288661 [GRCh38]
ChrX:1407554 [GRCh37]
ChrY:1357554 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.437G>A (p.Arg146His) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003511153] ChrX:1288852 [GRCh38]
ChrY:1288852 [GRCh38]
ChrX:1407745 [GRCh37]
ChrY:1357745 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.360T>C (p.Ala120=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003881936] ChrX:1288775 [GRCh38]
ChrY:1288775 [GRCh38]
ChrX:1407668 [GRCh37]
ChrY:1357668 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.811-9C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003511299] ChrX:1300482 [GRCh38]
ChrY:1300482 [GRCh38]
ChrX:1419375 [GRCh37]
ChrY:1369375 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.330T>C (p.Leu110=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510361] ChrX:1288629 [GRCh38]
ChrY:1288629 [GRCh38]
ChrX:1407522 [GRCh37]
ChrY:1357522 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.480G>A (p.Arg160=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510374] ChrX:1290343 [GRCh38]
ChrY:1290343 [GRCh38]
ChrX:1409236 [GRCh37]
ChrY:1359236 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.220-7T>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003509357] ChrX:1288512 [GRCh38]
ChrY:1288512 [GRCh38]
ChrX:1407405 [GRCh37]
ChrY:1357405 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.12G>C (p.Leu4=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003510125] ChrX:1282715 [GRCh38]
ChrY:1282715 [GRCh38]
ChrX:1401608 [GRCh37]
ChrY:1351608 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.810+18C>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003851725] ChrX:1295474 [GRCh38]
ChrY:1295474 [GRCh38]
ChrY:1364367 [GRCh37]
ChrX:1414367 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.291C>T (p.His97=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622259] ChrX:1288590 [GRCh38]
ChrY:1288590 [GRCh38]
ChrX:1407483 [GRCh37]
ChrY:1357483 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.669dup (p.Val224fs) duplication Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621841] ChrX:1294349..1294350 [GRCh38]
ChrY:1294349..1294350 [GRCh38]
ChrX:1413242..1413243 [GRCh37]
ChrY:1363242..1363243 [GRCh37]
ChrY:Yp11.2
ChrX:Xp22.33		 pathogenic
NM_172245.4(CSF2RA):c.555A>G (p.Gly185=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621878] ChrX:1290418 [GRCh38]
ChrY:1290418 [GRCh38]
ChrX:1409311 [GRCh37]
ChrY:1359311 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.560C>T (p.Thr187Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003872551] ChrX:1290423 [GRCh38]
ChrY:1290423 [GRCh38]
ChrX:1409316 [GRCh37]
ChrY:1359316 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.780+12C>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621982] ChrX:1294473 [GRCh38]
ChrY:1294473 [GRCh38]
ChrX:1413366 [GRCh37]
ChrY:1363366 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.220-6C>G single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003864823] ChrX:1288513 [GRCh38]
ChrY:1288513 [GRCh38]
ChrY:1357406 [GRCh37]
ChrX:1407406 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.213A>G (p.Glu71=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003868514] ChrX:1285914 [GRCh38]
ChrY:1285914 [GRCh38]
ChrX:1404807 [GRCh37]
ChrY:1354807 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.76+14C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003621974] ChrX:1282793 [GRCh38]
ChrY:1282793 [GRCh38]
ChrX:1401686 [GRCh37]
ChrY:1351686 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1126-15C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003866812] ChrX:1309387 [GRCh38]
ChrY:1309387 [GRCh38]
ChrX:1428280 [GRCh37]
ChrY:1378280 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003847980] ChrX:1282777 [GRCh38]
ChrY:1282777 [GRCh38]
ChrX:1401670 [GRCh37]
ChrY:1351670 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.220-6C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003857152] ChrX:1288513 [GRCh38]
ChrY:1288513 [GRCh38]
ChrX:1407406 [GRCh37]
ChrY:1357406 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.744C>T (p.Tyr248=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003859570] ChrX:1294425 [GRCh38]
ChrY:1294425 [GRCh38]
ChrX:1413318 [GRCh37]
ChrY:1363318 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003862264] ChrX:1285862 [GRCh38]
ChrY:1285862 [GRCh38]
ChrX:1404755 [GRCh37]
ChrY:1354755 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.647-14C>T single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003841285] ChrX:1294314 [GRCh38]
ChrY:1294314 [GRCh38]
ChrX:1413207 [GRCh37]
ChrY:1363207 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.947-10G>C single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003622053] ChrX:1303913 [GRCh38]
ChrY:1303913 [GRCh38]
ChrX:1422806 [GRCh37]
ChrY:1372806 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.*51G>A single nucleotide variant CSF2RA-related disorder [RCV003894513] ChrX:1309530 [GRCh38]
ChrY:1309530 [GRCh38]
ChrX:1428423 [GRCh37]
ChrY:1378423 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.*49G>A single nucleotide variant CSF2RA-related disorder [RCV003904412]|not specified [RCV004018012] ChrX:1309528 [GRCh38]
ChrY:1309528 [GRCh38]
ChrX:1428421 [GRCh37]
ChrY:1378421 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
NM_172245.4(CSF2RA):c.1125+172G>T single nucleotide variant CSF2RA-related disorder [RCV004752348] ChrX:1305699 [GRCh38]
ChrY:1305699 [GRCh38]
ChrX:1424592 [GRCh37]
ChrY:1374592 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1 copy number loss Intellectual disability [RCV004776398] ChrX:11091..10219826 [GRCh38]
ChrX:Xp22.33-22.2		 pathogenic
GRCh38/hg38 Xp22.33(chrX:1116864-1308697)x3 copy number gain Intellectual disability [RCV004776421] ChrX:1116864..1308697 [GRCh38]
ChrX:Xp22.33		 uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
NM_172245.4(CSF2RA):c.540G>A (p.Leu180=) single nucleotide variant CSF2RA-related disorder [RCV003892463]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646174] ChrY:1290403 [GRCh38]
ChrX:1290403 [GRCh38]
ChrX:1409296 [GRCh37]
ChrY:1359296 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign|likely benign
NM_172245.4(CSF2RA):c.996C>T (p.Ile332=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646175] ChrX:1303972 [GRCh38]
ChrY:1303972 [GRCh38]
ChrY:1372865 [GRCh37]
ChrX:1422865 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.1071G>A (p.Pro357=) single nucleotide variant CSF2RA-related disorder [RCV003905748]|Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646177]|not provided [RCV004714106] ChrX:1305473 [GRCh38]
ChrY:1305473 [GRCh38]
ChrY:1374366 [GRCh37]
ChrX:1424366 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 benign
NM_172245.4(CSF2RA):c.1125+8G>A single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV000646178]|not provided [RCV003437364] ChrX:1305535 [GRCh38]
ChrY:1305535 [GRCh38]
ChrY:1374428 [GRCh37]
ChrX:1424428 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
Single allele duplication Autism [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11		 likely pathogenic
NM_172245.4(CSF2RA):c.428C>T (p.Thr143Met) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001223096] ChrX:1288843 [GRCh38]
ChrY:1288843 [GRCh38]
ChrX:1407736 [GRCh37]
ChrY:1357736 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
NM_172245.4(CSF2RA):c.15G>T (p.Val5=) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV001485640] ChrX:1282718 [GRCh38]
ChrY:1282718 [GRCh38]
ChrX:1401611 [GRCh37]
ChrY:1351611 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 likely benign
NM_172245.4(CSF2RA):c.581T>G (p.Val194Gly) single nucleotide variant Surfactant metabolism dysfunction, pulmonary, 4 [RCV003340742] ChrX:1290444 [GRCh38]
ChrY:1290444 [GRCh38]
ChrX:1409337 [GRCh37]
ChrY:1359337 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5413
Count of miRNA genes:1205
Interacting mature miRNAs:1525
Transcripts:ENST00000355432, ENST00000355805, ENST00000361536, ENST00000381500, ENST00000381509, ENST00000381524, ENST00000381529, ENST00000412290, ENST00000417535, ENST00000419094, ENST00000432318, ENST00000475259, ENST00000477940, ENST00000478256, ENST00000481245, ENST00000486791, ENST00000491683, ENST00000493312, ENST00000494969, ENST00000498153, ENST00000501036
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597473564GWAS1569638_Hmitochondrial heteroplasmy measurement QTL GWAS1569638 (human)8e-16mitochondrial heteroplasmy measurementY12947841294785Human
597525253GWAS1621327_Hgranulocyte-macrophage colony-stimulating factor receptor subunit alpha measurement QTL GWAS1621327 (human)4e-1935granulocyte-macrophage colony-stimulating factor receptor subunit alpha measurementY13041461304147Human
597473564GWAS1569638_Hmitochondrial heteroplasmy measurement QTL GWAS1569638 (human)8e-16mitochondrial heteroplasmy measurementY12947841294785Human
597525253GWAS1621327_Hgranulocyte-macrophage colony-stimulating factor receptor subunit alpha measurement QTL GWAS1621327 (human)4e-1935granulocyte-macrophage colony-stimulating factor receptor subunit alpha measurementY13041461304147Human

Markers in Region
D10S276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y1,373,276 - 1,373,445UniSTSGRCh37
GRCh37X1,423,276 - 1,423,445UniSTSGRCh37
Build 36X1,383,276 - 1,383,445RGDNCBI36
CeleraX5,721,531 - 5,721,700RGD
Cytogenetic MapYp11.3UniSTS
Cytogenetic MapXp22.32UniSTS
DYS430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y1,357,361 - 1,357,551UniSTSGRCh37
GRCh37X1,407,361 - 1,407,551UniSTSGRCh37
Build 36X1,367,361 - 1,367,551RGDNCBI36
CeleraX5,704,397 - 5,704,587RGD
Cytogenetic MapYp11.3UniSTS
Cytogenetic MapXp22.32UniSTS
TNG Radiation Hybrid MapY122.0UniSTS
Stanford-G3 RH MapY97.0UniSTS
GDB:177399  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYp11.3UniSTS
Cytogenetic MapXp22.32UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
GDB:182005  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYp11.3UniSTS
Cytogenetic MapXp22.32UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2430 2788 2242 4961 1724 2338 5 621 1825 463 2267 7157 6332 49 3727 843 1733 1606 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH004090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI868829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM149332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX901885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP086569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D26628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ841258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M73832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U93096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000355432   ⟹   ENSP00000347606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,845 - 1,309,934 (+)Ensembl
Ensembl Acc Id: ENST00000355805   ⟹   ENSP00000348058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,845 - 1,309,934 (+)Ensembl
Ensembl Acc Id: ENST00000381500   ⟹   ENSP00000370911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,282,686 - 1,309,638 (+)Ensembl
Ensembl Acc Id: ENST00000381509   ⟹   ENSP00000370920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,832 - 1,305,941 (+)Ensembl
Ensembl Acc Id: ENST00000381524   ⟹   ENSP00000370935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,808 - 1,310,381 (+)Ensembl
Ensembl Acc Id: ENST00000381529   ⟹   ENSP00000370940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,814 - 1,309,935 (+)Ensembl
Ensembl Acc Id: ENST00000412290   ⟹   ENSP00000410667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,818 - 1,294,395 (+)Ensembl
Ensembl Acc Id: ENST00000417535   ⟹   ENSP00000394227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,800 - 1,309,935 (+)Ensembl
Ensembl Acc Id: ENST00000432318   ⟹   ENSP00000416437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,830 - 1,309,924 (+)Ensembl
Ensembl Acc Id: ENST00000475259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,290,453 - 1,309,922 (+)Ensembl
Ensembl Acc Id: ENST00000477940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,285,652 - 1,288,640 (+)Ensembl
Ensembl Acc Id: ENST00000478256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,288,598 - 1,289,105 (+)Ensembl
Ensembl Acc Id: ENST00000481245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,835 - 1,282,220 (+)Ensembl
Ensembl Acc Id: ENST00000486791   ⟹   ENSP00000436825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,845 - 1,309,934 (+)Ensembl
Ensembl Acc Id: ENST00000491683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,294,225 - 1,295,578 (+)Ensembl
Ensembl Acc Id: ENST00000493312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,814 - 1,300,543 (+)Ensembl
Ensembl Acc Id: ENST00000494969   ⟹   ENSP00000476684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,832 - 1,309,922 (+)Ensembl
Ensembl Acc Id: ENST00000498153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,800 - 1,309,934 (+)Ensembl
Ensembl Acc Id: ENST00000501036   ⟹   ENSP00000440491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,800 - 1,309,935 (+)Ensembl
Ensembl Acc Id: ENST00000696230   ⟹   ENSP00000512496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,814 - 1,309,718 (+)Ensembl
Ensembl Acc Id: ENST00000711129   ⟹   ENSP00000518635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,814 - 1,309,935 (+)Ensembl
Ensembl Acc Id: ENST00000711130   ⟹   ENSP00000518634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,818 - 1,294,395 (+)Ensembl
Ensembl Acc Id: ENST00000711131   ⟹   ENSP00000518633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,830 - 1,309,924 (+)Ensembl
Ensembl Acc Id: ENST00000711135   ⟹   ENSP00000518636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,814 - 1,309,718 (+)Ensembl
Ensembl Acc Id: ENST00000711136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,814 - 1,300,543 (+)Ensembl
Ensembl Acc Id: ENST00000711137   ⟹   ENSP00000518637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,808 - 1,310,381 (+)Ensembl
Ensembl Acc Id: ENST00000711138   ⟹   ENSP00000518638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,800 - 1,309,934 (+)Ensembl
Ensembl Acc Id: ENST00000711220   ⟹   ENSP00000518632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,832 - 1,305,941 (+)Ensembl
Ensembl Acc Id: ENST00000711221   ⟹   ENSP00000518631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,832 - 1,309,922 (+)Ensembl
Ensembl Acc Id: ENST00000711222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,835 - 1,282,220 (+)Ensembl
Ensembl Acc Id: ENST00000711223   ⟹   ENSP00000518630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,845 - 1,309,934 (+)Ensembl
Ensembl Acc Id: ENST00000711224   ⟹   ENSP00000518629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,845 - 1,309,934 (+)Ensembl
Ensembl Acc Id: ENST00000711225   ⟹   ENSP00000518628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,845 - 1,309,934 (+)Ensembl
Ensembl Acc Id: ENST00000711226   ⟹   ENSP00000518627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,282,686 - 1,309,638 (+)Ensembl
Ensembl Acc Id: ENST00000711227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,285,652 - 1,288,640 (+)Ensembl
Ensembl Acc Id: ENST00000711228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,288,598 - 1,289,105 (+)Ensembl
Ensembl Acc Id: ENST00000711229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,290,453 - 1,309,922 (+)Ensembl
Ensembl Acc Id: ENST00000711230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,294,225 - 1,295,578 (+)Ensembl
Ensembl Acc Id: ENST00000718259   ⟹   ENSP00000520699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,793 - 1,325,373 (+)Ensembl
Ensembl Acc Id: ENST00000718260   ⟹   ENSP00000520700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,818 - 1,323,174 (+)Ensembl
Ensembl Acc Id: ENST00000718261   ⟹   ENSP00000520701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,834 - 1,323,193 (+)Ensembl
Ensembl Acc Id: ENST00000718262   ⟹   ENSP00000520702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX1,268,834 - 1,325,216 (+)Ensembl
Ensembl Acc Id: ENST00000850688   ⟹   ENSP00000520927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,793 - 1,325,373 (+)Ensembl
Ensembl Acc Id: ENST00000850689   ⟹   ENSP00000520928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,818 - 1,323,174 (+)Ensembl
Ensembl Acc Id: ENST00000850690   ⟹   ENSP00000520929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,834 - 1,323,193 (+)Ensembl
Ensembl Acc Id: ENST00000850691   ⟹   ENSP00000520930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY1,268,834 - 1,325,216 (+)Ensembl
RefSeq Acc Id: NM_001161529   ⟹   NP_001155001
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
CHM1_1X1,418,017 - 1,458,211 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001161530   ⟹   NP_001155002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
CHM1_1X1,432,193 - 1,458,211 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001161531   ⟹   NP_001155003
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,305,941 (+)NCBI
GRCh38Y1,268,814 - 1,305,941 (+)NCBI
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
CHM1_1X1,418,017 - 1,454,053 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,169,829 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,155,344 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001161532   ⟹   NP_001155004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
CHM1_1X1,418,017 - 1,458,211 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379153   ⟹   NP_001366082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379154   ⟹   NP_001366083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379155   ⟹   NP_001366084
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,305,941 (+)NCBI
GRCh38Y1,268,814 - 1,305,941 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,155,344 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,169,829 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379156   ⟹   NP_001366085
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379158   ⟹   NP_001366087
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379159   ⟹   NP_001366088
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,325,218 (+)NCBI
GRCh38Y1,268,814 - 1,325,218 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,174,802 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,189,240 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379160   ⟹   NP_001366089
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379161   ⟹   NP_001366090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,323,128 (+)NCBI
GRCh38Y1,268,814 - 1,323,128 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,172,713 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,187,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379162   ⟹   NP_001366091
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,325,218 (+)NCBI
GRCh38Y1,268,814 - 1,325,218 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,174,802 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,189,240 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379163   ⟹   NP_001366092
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,325,218 (+)NCBI
GRCh38Y1,268,814 - 1,325,218 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,174,802 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,189,240 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379164   ⟹   NP_001366093
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,323,128 (+)NCBI
GRCh38Y1,268,814 - 1,323,128 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,172,713 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,187,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379165   ⟹   NP_001366094
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,323,128 (+)NCBI
GRCh38Y1,268,814 - 1,323,128 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,172,713 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,187,151 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379166   ⟹   NP_001366095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379167   ⟹   NP_001366096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379168   ⟹   NP_001366097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379169   ⟹   NP_001366098
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006140   ⟹   NP_006131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
Build 36X1,347,701 - 1,388,827 (+)NCBI Archive
Build 36Y1,347,701 - 1,388,827 (+)NCBI Archive
CHM1_1X1,418,017 - 1,458,211 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172245   ⟹   NP_758448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
Build 36X1,347,701 - 1,388,827 (+)NCBI Archive
Build 36Y1,347,701 - 1,388,827 (+)NCBI Archive
CHM1_1X1,418,017 - 1,458,211 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172246   ⟹   NP_758449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
Build 36X1,347,701 - 1,388,827 (+)NCBI Archive
Build 36Y1,347,701 - 1,388,827 (+)NCBI Archive
CHM1_1X1,418,017 - 1,458,211 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172247   ⟹   NP_758450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
Build 36X1,361,571 - 1,388,827 (+)NCBI Archive
Build 36Y1,361,571 - 1,388,827 (+)NCBI Archive
CHM1_1X1,432,193 - 1,458,211 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172249   ⟹   NP_758452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
Build 36X1,347,701 - 1,388,827 (+)NCBI Archive
Build 36Y1,347,701 - 1,388,827 (+)NCBI Archive
CHM1_1X1,418,017 - 1,458,211 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
Sequence:
RefSeq Acc Id: NR_027760
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,309,935 (+)NCBI
GRCh38Y1,268,814 - 1,309,935 (+)NCBI
GRCh37Y1,337,693 - 1,378,828 (+)NCBI
GRCh37X1,387,693 - 1,428,828 (+)ENTREZGENE
CHM1_1X1,418,017 - 1,458,211 (+)NCBI
T2T-CHM13v2.0Y1,129,416 - 1,174,178 (+)NCBI
T2T-CHM13v2.0X1,116,126 - 1,159,654 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545620   ⟹   XP_011543922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,323,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545627   ⟹   XP_011543929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,323,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545628   ⟹   XP_011543930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,325,218 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011546167   ⟹   XP_011544469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,323,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011546174   ⟹   XP_011544476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,323,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011546175   ⟹   XP_011544477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,325,218 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441845   ⟹   XP_047297801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,322,846 (+)NCBI
RefSeq Acc Id: XM_047441846   ⟹   XP_047297802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,322,846 (+)NCBI
RefSeq Acc Id: XM_047441847   ⟹   XP_047297803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,322,846 (+)NCBI
RefSeq Acc Id: XM_047441848   ⟹   XP_047297804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,282,236 - 1,322,846 (+)NCBI
RefSeq Acc Id: XM_047441849   ⟹   XP_047297805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,322,669 (+)NCBI
RefSeq Acc Id: XM_047441850   ⟹   XP_047297806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,323,128 (+)NCBI
RefSeq Acc Id: XM_047441851   ⟹   XP_047297807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,325,218 (+)NCBI
RefSeq Acc Id: XM_047441852   ⟹   XP_047297808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,282,803 - 1,322,850 (+)NCBI
RefSeq Acc Id: XM_047441853   ⟹   XP_047297809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,814 - 1,323,128 (+)NCBI
RefSeq Acc Id: XM_047442710   ⟹   XP_047298666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,322,846 (+)NCBI
RefSeq Acc Id: XM_047442711   ⟹   XP_047298667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,322,846 (+)NCBI
RefSeq Acc Id: XM_047442712   ⟹   XP_047298668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,322,846 (+)NCBI
RefSeq Acc Id: XM_047442713   ⟹   XP_047298669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,282,236 - 1,322,846 (+)NCBI
RefSeq Acc Id: XM_047442714   ⟹   XP_047298670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,322,669 (+)NCBI
RefSeq Acc Id: XM_047442715   ⟹   XP_047298671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,323,128 (+)NCBI
RefSeq Acc Id: XM_047442716   ⟹   XP_047298672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,325,218 (+)NCBI
RefSeq Acc Id: XM_047442717   ⟹   XP_047298673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,282,803 - 1,322,850 (+)NCBI
RefSeq Acc Id: XM_047442718   ⟹   XP_047298674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y1,268,814 - 1,323,128 (+)NCBI
RefSeq Acc Id: XM_054326514   ⟹   XP_054182489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,172,433 (+)NCBI
RefSeq Acc Id: XM_054326515   ⟹   XP_054182490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,172,713 (+)NCBI
RefSeq Acc Id: XM_054326516   ⟹   XP_054182491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,172,432 (+)NCBI
RefSeq Acc Id: XM_054326517   ⟹   XP_054182492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,172,432 (+)NCBI
RefSeq Acc Id: XM_054326518   ⟹   XP_054182493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,131,429 - 1,172,433 (+)NCBI
RefSeq Acc Id: XM_054326519   ⟹   XP_054182494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,172,256 (+)NCBI
RefSeq Acc Id: XM_054326520   ⟹   XP_054182495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,172,713 (+)NCBI
RefSeq Acc Id: XM_054326521   ⟹   XP_054182496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,174,802 (+)NCBI
RefSeq Acc Id: XM_054326522   ⟹   XP_054182497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,131,986 - 1,172,433 (+)NCBI
RefSeq Acc Id: XM_054326523   ⟹   XP_054182498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,172,713 (+)NCBI
RefSeq Acc Id: XM_054326524   ⟹   XP_054182499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,172,713 (+)NCBI
RefSeq Acc Id: XM_054326525   ⟹   XP_054182500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X1,116,126 - 1,174,802 (+)NCBI
RefSeq Acc Id: XM_054328241   ⟹   XP_054184216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,129,416 - 1,186,870 (+)NCBI
RefSeq Acc Id: XM_054328242   ⟹   XP_054184217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,129,416 - 1,187,151 (+)NCBI
RefSeq Acc Id: XM_054328243   ⟹   XP_054184218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,129,416 - 1,186,869 (+)NCBI
RefSeq Acc Id: XM_054328244   ⟹   XP_054184219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,129,416 - 1,186,869 (+)NCBI
RefSeq Acc Id: XM_054328245   ⟹   XP_054184220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,144,762 - 1,186,870 (+)NCBI
RefSeq Acc Id: XM_054328246   ⟹   XP_054184221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,129,416 - 1,186,693 (+)NCBI
RefSeq Acc Id: XM_054328247   ⟹   XP_054184222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,129,416 - 1,187,151 (+)NCBI
RefSeq Acc Id: XM_054328248   ⟹   XP_054184223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,145,270 - 1,186,874 (+)NCBI
RefSeq Acc Id: XM_054328249   ⟹   XP_054184224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,129,416 - 1,187,151 (+)NCBI
RefSeq Acc Id: XM_054328250   ⟹   XP_054184225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,129,416 - 1,187,151 (+)NCBI
RefSeq Acc Id: XM_054328251   ⟹   XP_054184226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y1,129,416 - 1,189,240 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001155001 (Get FASTA)   NCBI Sequence Viewer  
  NP_001155002 (Get FASTA)   NCBI Sequence Viewer  
  NP_001155003 (Get FASTA)   NCBI Sequence Viewer  
  NP_001155004 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366082 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366083 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366084 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366085 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366087 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366088 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366089 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366090 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366091 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366092 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366093 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366094 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366095 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366096 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366097 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366098 (Get FASTA)   NCBI Sequence Viewer  
  NP_006131 (Get FASTA)   NCBI Sequence Viewer  
  NP_758448 (Get FASTA)   NCBI Sequence Viewer  
  NP_758449 (Get FASTA)   NCBI Sequence Viewer  
  NP_758450 (Get FASTA)   NCBI Sequence Viewer  
  NP_758452 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543922 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543929 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543930 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544469 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544476 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544477 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297801 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297802 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297803 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297804 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297805 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297806 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297807 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297808 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297809 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298666 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298667 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298668 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298669 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298670 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298671 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298672 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298673 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298674 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182489 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182490 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182491 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182492 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182493 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182494 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182495 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182496 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182497 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182498 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182499 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182500 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184216 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184217 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184218 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184219 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184220 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184221 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184222 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184223 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184224 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184225 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184226 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35908 (Get FASTA)   NCBI Sequence Viewer  
  AAA35909 (Get FASTA)   NCBI Sequence Viewer  
  AAA60961 (Get FASTA)   NCBI Sequence Viewer  
  AAA60962 (Get FASTA)   NCBI Sequence Viewer  
  AAB23942 (Get FASTA)   NCBI Sequence Viewer  
  AAB51535 (Get FASTA)   NCBI Sequence Viewer  
  AAH02635 (Get FASTA)   NCBI Sequence Viewer  
  AAH71835 (Get FASTA)   NCBI Sequence Viewer  
  ABI32309 (Get FASTA)   NCBI Sequence Viewer  
  BAA05656 (Get FASTA)   NCBI Sequence Viewer  
  BAF85775 (Get FASTA)   NCBI Sequence Viewer  
  BAG62930 (Get FASTA)   NCBI Sequence Viewer  
  CAA35638 (Get FASTA)   NCBI Sequence Viewer  
  CAA38697 (Get FASTA)   NCBI Sequence Viewer  
  EAW98673 (Get FASTA)   NCBI Sequence Viewer  
  EAW98674 (Get FASTA)   NCBI Sequence Viewer  
  EAW98675 (Get FASTA)   NCBI Sequence Viewer  
  EAW98676 (Get FASTA)   NCBI Sequence Viewer  
  EAW98677 (Get FASTA)   NCBI Sequence Viewer  
  EAW98678 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000347606
  ENSP00000347606.3
  ENSP00000348058
  ENSP00000348058.2
  ENSP00000370911
  ENSP00000370911.1
  ENSP00000370920
  ENSP00000370920.3
  ENSP00000370935
  ENSP00000370935.3
  ENSP00000370940
  ENSP00000370940.3
  ENSP00000410667.1
  ENSP00000416437
  ENSP00000416437.2
  ENSP00000436825.1
  ENSP00000476684.1
  ENSP00000512483
  ENSP00000512483.1
  ENSP00000512496.1
  ENSP00000518627
  ENSP00000518627.1
  ENSP00000518628.1
  ENSP00000518629
  ENSP00000518629.1
  ENSP00000518630
  ENSP00000518630.1
  ENSP00000518631.1
  ENSP00000518632
  ENSP00000518632.1
  ENSP00000518633
  ENSP00000518633.1
  ENSP00000518634.1
  ENSP00000518635
  ENSP00000518635.1
  ENSP00000518636.1
  ENSP00000518637
  ENSP00000518637.1
  ENSP00000518638
  ENSP00000518638.1
  ENSP00000520699
  ENSP00000520701
  ENSP00000520702
  ENSP00000520927
  ENSP00000520929
  ENSP00000520930
GenBank Protein P15509 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006131   ⟸   NM_006140
- Peptide Label: isoform a precursor
- UniProtKB: Q14431 (UniProtKB/Swiss-Prot),   Q14430 (UniProtKB/Swiss-Prot),   Q14429 (UniProtKB/Swiss-Prot),   O00207 (UniProtKB/Swiss-Prot),   J3JS77 (UniProtKB/Swiss-Prot),   J3JS76 (UniProtKB/Swiss-Prot),   B4DW68 (UniProtKB/Swiss-Prot),   A8KAM1 (UniProtKB/Swiss-Prot),   A7J003 (UniProtKB/Swiss-Prot),   Q16564 (UniProtKB/Swiss-Prot),   P15509 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_758449   ⟸   NM_172246
- Peptide Label: isoform b precursor
- UniProtKB: P15509 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_758452   ⟸   NM_172249
- Peptide Label: isoform e precursor
- UniProtKB: J3JS74 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001155001   ⟸   NM_001161529
- Peptide Label: isoform a precursor
- UniProtKB: Q14431 (UniProtKB/Swiss-Prot),   Q14430 (UniProtKB/Swiss-Prot),   Q14429 (UniProtKB/Swiss-Prot),   O00207 (UniProtKB/Swiss-Prot),   J3JS77 (UniProtKB/Swiss-Prot),   J3JS76 (UniProtKB/Swiss-Prot),   B4DW68 (UniProtKB/Swiss-Prot),   A8KAM1 (UniProtKB/Swiss-Prot),   A7J003 (UniProtKB/Swiss-Prot),   Q16564 (UniProtKB/Swiss-Prot),   P15509 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_758448   ⟸   NM_172245
- Peptide Label: isoform a precursor
- UniProtKB: Q14431 (UniProtKB/Swiss-Prot),   Q14430 (UniProtKB/Swiss-Prot),   Q14429 (UniProtKB/Swiss-Prot),   O00207 (UniProtKB/Swiss-Prot),   J3JS77 (UniProtKB/Swiss-Prot),   J3JS76 (UniProtKB/Swiss-Prot),   B4DW68 (UniProtKB/Swiss-Prot),   A8KAM1 (UniProtKB/Swiss-Prot),   A7J003 (UniProtKB/Swiss-Prot),   Q16564 (UniProtKB/Swiss-Prot),   P15509 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001155004   ⟸   NM_001161532
- Peptide Label: isoform h
- UniProtKB: P15509 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001155003   ⟸   NM_001161531
- Peptide Label: isoform g precursor
- UniProtKB: P15509 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001155002   ⟸   NM_001161530
- Peptide Label: isoform f precursor
- UniProtKB: P15509 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_758450   ⟸   NM_172247
- Peptide Label: isoform c precursor
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544477   ⟸   XM_011546175
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544476   ⟸   XM_011546174
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544469   ⟸   XM_011546167
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543930   ⟸   XM_011545628
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543929   ⟸   XM_011545627
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543922   ⟸   XM_011545620
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001366092   ⟸   NM_001379163
- Peptide Label: isoform l precursor
RefSeq Acc Id: NP_001366088   ⟸   NM_001379159
- Peptide Label: isoform i precursor
RefSeq Acc Id: NP_001366091   ⟸   NM_001379162
- Peptide Label: isoform l precursor
RefSeq Acc Id: NP_001366093   ⟸   NM_001379164
- Peptide Label: isoform m precursor
RefSeq Acc Id: NP_001366094   ⟸   NM_001379165
- Peptide Label: isoform m precursor
RefSeq Acc Id: NP_001366090   ⟸   NM_001379161
- Peptide Label: isoform k precursor
RefSeq Acc Id: NP_001366096   ⟸   NM_001379167
- Peptide Label: isoform c precursor
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366083   ⟸   NM_001379154
- Peptide Label: isoform f precursor
RefSeq Acc Id: NP_001366098   ⟸   NM_001379169
- Peptide Label: isoform c precursor
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366089   ⟸   NM_001379160
- Peptide Label: isoform j precursor
RefSeq Acc Id: NP_001366095   ⟸   NM_001379166
- Peptide Label: isoform n precursor
RefSeq Acc Id: NP_001366087   ⟸   NM_001379158
- Peptide Label: isoform a precursor
- UniProtKB: Q14431 (UniProtKB/Swiss-Prot),   Q14430 (UniProtKB/Swiss-Prot),   Q14429 (UniProtKB/Swiss-Prot),   P15509 (UniProtKB/Swiss-Prot),   O00207 (UniProtKB/Swiss-Prot),   J3JS77 (UniProtKB/Swiss-Prot),   J3JS76 (UniProtKB/Swiss-Prot),   B4DW68 (UniProtKB/Swiss-Prot),   A8KAM1 (UniProtKB/Swiss-Prot),   A7J003 (UniProtKB/Swiss-Prot),   Q16564 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001366082   ⟸   NM_001379153
- Peptide Label: isoform f precursor
RefSeq Acc Id: NP_001366085   ⟸   NM_001379156
- Peptide Label: isoform a precursor
- UniProtKB: Q14431 (UniProtKB/Swiss-Prot),   Q14430 (UniProtKB/Swiss-Prot),   Q14429 (UniProtKB/Swiss-Prot),   P15509 (UniProtKB/Swiss-Prot),   O00207 (UniProtKB/Swiss-Prot),   J3JS77 (UniProtKB/Swiss-Prot),   J3JS76 (UniProtKB/Swiss-Prot),   B4DW68 (UniProtKB/Swiss-Prot),   A8KAM1 (UniProtKB/Swiss-Prot),   A7J003 (UniProtKB/Swiss-Prot),   Q16564 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001366097   ⟸   NM_001379168
- Peptide Label: isoform c precursor
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366084   ⟸   NM_001379155
- Peptide Label: isoform g precursor
Ensembl Acc Id: ENSP00000410667   ⟸   ENST00000412290
Ensembl Acc Id: ENSP00000476684   ⟸   ENST00000494969
Ensembl Acc Id: ENSP00000394227   ⟸   ENST00000417535
Ensembl Acc Id: ENSP00000416437   ⟸   ENST00000432318
Ensembl Acc Id: ENSP00000436825   ⟸   ENST00000486791
Ensembl Acc Id: ENSP00000347606   ⟸   ENST00000355432
Ensembl Acc Id: ENSP00000348058   ⟸   ENST00000355805
Ensembl Acc Id: ENSP00000370911   ⟸   ENST00000381500
Ensembl Acc Id: ENSP00000370920   ⟸   ENST00000381509
Ensembl Acc Id: ENSP00000370940   ⟸   ENST00000381529
Ensembl Acc Id: ENSP00000370935   ⟸   ENST00000381524
Ensembl Acc Id: ENSP00000440491   ⟸   ENST00000501036
Ensembl Acc Id: ENSP00000512496   ⟸   ENST00000696230
RefSeq Acc Id: XP_047297807   ⟸   XM_047441851
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047297806   ⟸   XM_047441850
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047297809   ⟸   XM_047441853
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297802   ⟸   XM_047441846
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047297803   ⟸   XM_047441847
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047297801   ⟸   XM_047441845
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047297805   ⟸   XM_047441849
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047297804   ⟸   XM_047441848
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047297808   ⟸   XM_047441852
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047298672   ⟸   XM_047442716
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047298671   ⟸   XM_047442715
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047298674   ⟸   XM_047442718
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298667   ⟸   XM_047442711
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047298668   ⟸   XM_047442712
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047298666   ⟸   XM_047442710
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047298670   ⟸   XM_047442714
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047298669   ⟸   XM_047442713
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047298673   ⟸   XM_047442717
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054182496   ⟸   XM_054326521
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054182500   ⟸   XM_054326525
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182495   ⟸   XM_054326520
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054182490   ⟸   XM_054326515
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054182498   ⟸   XM_054326523
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182499   ⟸   XM_054326524
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182489   ⟸   XM_054326514
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182491   ⟸   XM_054326516
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182492   ⟸   XM_054326517
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182494   ⟸   XM_054326519
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054182493   ⟸   XM_054326518
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182497   ⟸   XM_054326522
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054184226   ⟸   XM_054328251
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054184222   ⟸   XM_054328247
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054184217   ⟸   XM_054328242
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054184224   ⟸   XM_054328249
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054184225   ⟸   XM_054328250
- Peptide Label: isoform X5
- UniProtKB: F2Z3C9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054184216   ⟸   XM_054328241
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054184218   ⟸   XM_054328243
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054184219   ⟸   XM_054328244
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054184221   ⟸   XM_054328246
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054184220   ⟸   XM_054328245
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054184223   ⟸   XM_054328248
- Peptide Label: isoform X4
Ensembl Acc Id: ENSP00000518630   ⟸   ENST00000711223
Ensembl Acc Id: ENSP00000518628   ⟸   ENST00000711225
Ensembl Acc Id: ENSP00000518636   ⟸   ENST00000711135
Ensembl Acc Id: ENSP00000518637   ⟸   ENST00000711137
Ensembl Acc Id: ENSP00000518634   ⟸   ENST00000711130
Ensembl Acc Id: ENSP00000518638   ⟸   ENST00000711138
Ensembl Acc Id: ENSP00000518631   ⟸   ENST00000711221
Ensembl Acc Id: ENSP00000518635   ⟸   ENST00000711129
Ensembl Acc Id: ENSP00000518633   ⟸   ENST00000711131
Ensembl Acc Id: ENSP00000518627   ⟸   ENST00000711226
Ensembl Acc Id: ENSP00000518632   ⟸   ENST00000711220
Ensembl Acc Id: ENSP00000518629   ⟸   ENST00000711224
Ensembl Acc Id: ENSP00000520930   ⟸   ENST00000850691
Ensembl Acc Id: ENSP00000520701   ⟸   ENST00000718261
Ensembl Acc Id: ENSP00000520699   ⟸   ENST00000718259
Ensembl Acc Id: ENSP00000520928   ⟸   ENST00000850689
Ensembl Acc Id: ENSP00000520927   ⟸   ENST00000850688
Ensembl Acc Id: ENSP00000520702   ⟸   ENST00000718262
Ensembl Acc Id: ENSP00000520700   ⟸   ENST00000718260
Ensembl Acc Id: ENSP00000520929   ⟸   ENST00000850690
Protein Domains
Fibronectin type-III   IL-3 receptor alpha chain N-terminal   Type I cytokine receptor cytokine-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15509-F1-model_v2 AlphaFold P15509 1-400 view protein structure

Promoters
RGD ID:13604606
Promoter ID:EPDNEW_H28487
Type:initiation region
Name:CSF2RA_1
Description:colony stimulating factor 2 receptor alpha subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28486  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,268,818 - 1,268,878EPDNEW
RGD ID:6850210
Promoter ID:EP48004
Type:single initiation site
Name:HS_CSF2RA
Description:Granulocyte/Macrophage colony stimulating factor receptor alpha,CSF2RA or CSF2R gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:hematopoietic SC, monocytes, MPs,.
Experiment Methods:Sequencing of a full-length cDNA; Primer extension with homologous sequence ladder
Position:No map positions available.

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2435 AgrOrtholog
COSMIC CSF2RA COSMIC
Ensembl Genes ENSG00000198223 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000292357 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000355432 ENTREZGENE
  ENST00000355432.8 UniProtKB/Swiss-Prot
  ENST00000355805 ENTREZGENE
  ENST00000355805.7 UniProtKB/Swiss-Prot
  ENST00000381500 ENTREZGENE
  ENST00000381500.6 UniProtKB/Swiss-Prot
  ENST00000381509 ENTREZGENE
  ENST00000381509.8 UniProtKB/Swiss-Prot
  ENST00000381524 ENTREZGENE
  ENST00000381524.8 UniProtKB/Swiss-Prot
  ENST00000381529 ENTREZGENE
  ENST00000381529.9 UniProtKB/Swiss-Prot
  ENST00000412290.6 UniProtKB/TrEMBL
  ENST00000432318 ENTREZGENE
  ENST00000432318.8 UniProtKB/Swiss-Prot
  ENST00000486791 ENTREZGENE
  ENST00000486791.6 UniProtKB/TrEMBL
  ENST00000494969.7 UniProtKB/TrEMBL
  ENST00000498153 ENTREZGENE
  ENST00000498153.7 UniProtKB/Swiss-Prot
  ENST00000696230.1 UniProtKB/TrEMBL
  ENST00000711129 ENTREZGENE
  ENST00000711129.1 UniProtKB/Swiss-Prot
  ENST00000711130.1 UniProtKB/TrEMBL
  ENST00000711131 ENTREZGENE
  ENST00000711131.1 UniProtKB/Swiss-Prot
  ENST00000711135.1 UniProtKB/TrEMBL
  ENST00000711137 ENTREZGENE
  ENST00000711137.1 UniProtKB/Swiss-Prot
  ENST00000711138 ENTREZGENE
  ENST00000711138.1 UniProtKB/Swiss-Prot
  ENST00000711220 ENTREZGENE
  ENST00000711220.1 UniProtKB/Swiss-Prot
  ENST00000711221.1 UniProtKB/TrEMBL
  ENST00000711223 ENTREZGENE
  ENST00000711223.1 UniProtKB/Swiss-Prot
  ENST00000711224 ENTREZGENE
  ENST00000711224.1 UniProtKB/Swiss-Prot
  ENST00000711225 ENTREZGENE
  ENST00000711225.1 UniProtKB/TrEMBL
  ENST00000711226 ENTREZGENE
  ENST00000711226.1 UniProtKB/Swiss-Prot
  ENST00000718259 ENTREZGENE
  ENST00000718261 ENTREZGENE
  ENST00000718262 ENTREZGENE
  ENST00000850688 ENTREZGENE
  ENST00000850690 ENTREZGENE
  ENST00000850691 ENTREZGENE
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.3850 UniProtKB/TrEMBL
GTEx ENSG00000198223 GTEx
  ENSG00000292357 GTEx
HGNC ID HGNC:2435 ENTREZGENE
Human Proteome Map CSF2RA Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL3Ra_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Short_hematopoietin_rcpt_2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TypeI_recpt_CBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1438 UniProtKB/Swiss-Prot
NCBI Gene 1438 ENTREZGENE
OMIM 306250 OMIM
  425000 OMIM
PANTHER CYTOKINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTERLEUKIN 5 RECEPTOR SUBUNIT ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IL3Ra_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL6Ra-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26938 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot
  HEMATOPO_REC_S_F2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B4XX95_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIC6_HUMAN UniProtKB/TrEMBL
  A7J003 ENTREZGENE
  A8KAM1 ENTREZGENE
  B4DW68 ENTREZGENE
  CSF2R_HUMAN UniProtKB/Swiss-Prot
  F2Z3C9 ENTREZGENE, UniProtKB/TrEMBL
  J3JS74 ENTREZGENE, UniProtKB/TrEMBL
  J3JS76 ENTREZGENE
  J3JS77 ENTREZGENE
  O00207 ENTREZGENE
  P15509 ENTREZGENE
  Q14429 ENTREZGENE
  Q14430 ENTREZGENE
  Q14431 ENTREZGENE
  Q16498_HUMAN UniProtKB/TrEMBL
  Q16564 ENTREZGENE
  V9GYE9_HUMAN UniProtKB/TrEMBL
UniProt Secondary A7J003 UniProtKB/Swiss-Prot
  A8KAM1 UniProtKB/Swiss-Prot
  B4DW68 UniProtKB/Swiss-Prot
  J3JS76 UniProtKB/Swiss-Prot
  J3JS77 UniProtKB/Swiss-Prot
  O00207 UniProtKB/Swiss-Prot
  Q14429 UniProtKB/Swiss-Prot
  Q14430 UniProtKB/Swiss-Prot
  Q14431 UniProtKB/Swiss-Prot
  Q16564 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 CSF2RA  colony stimulating factor 2 receptor subunit alpha  CSF2RA  colony stimulating factor 2 receptor alpha subunit  Symbol and/or name change 5135510 APPROVED
2016-01-19 CSF2RA  colony stimulating factor 2 receptor alpha subunit  CSF2RA  colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)  Symbol and/or name change 5135510 APPROVED