ClinVar for MedGen (Select 393858) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25848421.	NM_172245.4(CSF2RA):c.581T>G (p.Val194Gly) GRCh37: ChrX:1409337 ChrY:1359337 GRCh38: ChrX:1290444 ChrY:1290444	CSF2RA	V61G, V194G	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance	criteria provided, single submitter
Select item 24180562.	NM_172245.4(CSF2RA):c.370T>G (p.Phe124Val) GRCh37: ChrX:1407678 ChrY:1357678 GRCh38: ChrX:1288785 ChrY:1288785	CSF2RA	F124V	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 21993903.	NM_172245.4(CSF2RA):c.1125+16C>T GRCh37: ChrX:1424436 ChrY:1374436 GRCh38: ChrX:1305543 ChrY:1305543	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 21989474.	NM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln) GRCh37: ChrX:1413224 ChrY:1363224 GRCh38: ChrX:1294331 ChrY:1294331	CSF2RA	R84Q, R217Q	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 21899205.	NM_172245.4(CSF2RA):c.1043+1G>A GRCh37: ChrX:1422913 ChrY:1372913 GRCh38: ChrX:1304020 ChrY:1304020	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 21813136.	NM_172245.4(CSF2RA):c.1128C>A (p.Ile376=) GRCh37: ChrX:1428297 ChrY:1378297 GRCh38: ChrX:1309404 ChrY:1309404	CSF2RA	H317N	Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 21803977.	NM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp) GRCh37: ChrX:1419506 ChrY:1369506 GRCh38: ChrX:1300613 ChrY:1300613	CSF2RA	E311D, E301D, E178D	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 21798678.	NM_172245.4(CSF2RA):c.343+14C>G GRCh37: ChrX:1407549 ChrY:1357549 GRCh38: ChrX:1288656 ChrY:1288656	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 21777349.	NM_172245.4(CSF2RA):c.1110T>C (p.His370=) GRCh37: ChrX:1424405 ChrY:1374405 GRCh38: ChrX:1305512 ChrY:1305512	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 217659710.	NM_172245.4(CSF2RA):c.946+14G>A GRCh37: ChrX:1419533 ChrY:1369533 GRCh38: ChrX:1300640 ChrY:1300640	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 217325011.	NM_172245.4(CSF2RA):c.552A>G (p.Ser184=) GRCh37: ChrX:1409308 ChrY:1359308 GRCh38: ChrX:1290415 ChrY:1290415	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 216666712.	NM_172245.4(CSF2RA):c.344-16T>C GRCh37: ChrX:1407636 ChrY:1357636 GRCh38: ChrX:1288743 ChrY:1288743	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 216556113.	NM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser) GRCh37: ChrX:1409346 ChrY:1359346 GRCh38: ChrX:1290453 ChrY:1290453	CSF2RA	T197S, T64S	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 216255314.	NM_172245.4(CSF2RA):c.25C>T (p.Leu9=) GRCh37: ChrX:1401621 ChrY:1351621 GRCh38: ChrX:1282728 ChrY:1282728	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 215934815.	NM_172245.4(CSF2RA):c.266A>G (p.His89Arg) GRCh37: ChrX:1407458 ChrY:1357458 GRCh38: ChrX:1288565 ChrY:1288565	CSF2RA	H89R	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215933316.	NM_172245.4(CSF2RA):c.1169G>A (p.Arg390His) GRCh37: ChrX:1428338 ChrY:1378338 GRCh38: ChrX:1309445 ChrY:1309445	CSF2RA	R257H, R327H, R390H, R424H, R380H	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 214650317.	NM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln) GRCh37: ChrX:1424365 ChrY:1374365 GRCh38: ChrX:1305472 ChrY:1305472	CSF2RA	P391Q, R325S, P224Q, P357Q, P294Q, P347Q, R225S	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 214317218.	NM_172245.4(CSF2RA):c.677T>C (p.Val226Ala) GRCh37: ChrX:1413251 ChrY:1363251 GRCh38: ChrX:1294358 ChrY:1294358	CSF2RA	Y220H, V226A, V93A	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 213369019.	NM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys) GRCh37: ChrX:1401613 ChrY:1351613 GRCh38: ChrX:1282720 ChrY:1282720	CSF2RA	T6K	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213352720.	NM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp) GRCh37: ChrX:1414341 ChrY:1364341 GRCh38: ChrX:1295448 ChrY:1295448	CSF2RA	N135D, N268D	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 209946221.	NM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser) GRCh37: ChrX:1414321 ChrY:1364321 GRCh38: ChrX:1295428 ChrY:1295428	CSF2RA	N261S, N128S, I255V	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 209648522.	NM_172245.4(CSF2RA):c.811-11T>C GRCh37: ChrY:1369373 ChrX:1419373 GRCh38: ChrX:1300480 ChrY:1300480	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209358423.	NM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala) GRCh37: ChrX:1428341 ChrY:1378341 GRCh38: ChrX:1309448 ChrY:1309448	CSF2RA	E258A, E391A, E425A, E328A, E381A	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 209025824.	NM_172245.4(CSF2RA):c.957C>T (p.Asp319=) GRCh37: ChrX:1422826 ChrY:1372826 GRCh38: ChrX:1303933 ChrY:1303933	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 208838125.	NM_172245.4(CSF2RA):c.495T>C (p.Cys165=) GRCh37: ChrX:1409251 ChrY:1359251 GRCh38: ChrX:1290358 ChrY:1290358	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 208811026.	NM_172245.4(CSF2RA):c.350_353del (p.Glu117fs) GRCh37: ChrX:1407654-1407657 ChrY:1357654-1357657 GRCh38: ChrX:1288761-1288764 ChrY:1288761-1288764	CSF2RA	E117fs	Surfactant metabolism dysfunction, pulmonary, 4	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 208618727.	NM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu) GRCh37: ChrX:1409271 ChrY:1359271 GRCh38: ChrX:1290378 ChrY:1290378	CSF2RA	S39L, S172L	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 207699828.	NM_172245.4(CSF2RA):c.344-5C>G GRCh37: ChrX:1407647 ChrY:1357647 GRCh38: ChrX:1288754 ChrY:1288754	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 207110929.	NM_172245.4(CSF2RA):c.768C>T (p.Asp256=) GRCh37: ChrX:1413342 ChrY:1363342 GRCh38: ChrX:1294449 ChrY:1294449	CSF2RA	T250M	Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 206262630.	NM_172245.4(CSF2RA):c.447G>C (p.Gln149His) GRCh37: ChrX:1407755 ChrY:1357755 GRCh38: ChrX:1288862 ChrY:1288862	CSF2RA	Q149H, Q16H	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 206260731.	NM_172245.4(CSF2RA):c.341C>G (p.Ser114Ter) GRCh37: ChrX:1407533 ChrY:1357533 GRCh38: ChrX:1288640 ChrY:1288640	CSF2RA	S114*	Surfactant metabolism dysfunction, pulmonary, 4	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 205894532.	NM_172245.4(CSF2RA):c.77-11G>A GRCh37: ChrX:1404660 ChrY:1354660 GRCh38: ChrX:1285767 ChrY:1285767	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 204931033.	NM_172245.4(CSF2RA):c.318A>G (p.Gln106=) GRCh37: ChrX:1407510 ChrY:1357510 GRCh38: ChrX:1288617 ChrY:1288617	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 204349834.	NM_172245.4(CSF2RA):c.1125+20G>A GRCh37: ChrX:1424440 ChrY:1374440 GRCh38: ChrX:1305547 ChrY:1305547	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 202737235.	NM_172245.4(CSF2RA):c.473+17T>C GRCh37: ChrX:1407798 ChrY:1357798 GRCh38: ChrX:1288905 ChrY:1288905	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 202737136.	NM_172245.4(CSF2RA):c.473+14_473+15del GRCh37: ChrX:1407794-1407795 ChrY:1357794-1357795 GRCh38: ChrX:1288901-1288902 ChrY:1288901-1288902	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 201983037.	NM_172245.4(CSF2RA):c.825T>C (p.Gly275=) GRCh37: ChrX:1419398 ChrY:1369398 GRCh38: ChrX:1300505 ChrY:1300505	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 201029838.	NM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg) GRCh37: ChrX:1413263 ChrY:1363263 GRCh38: ChrX:1294370 ChrY:1294370	CSF2RA	R224G, T230R, T97R	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201010239.	NM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr) GRCh37: ChrX:1419441 ChrY:1369441 GRCh38: ChrX:1300548 ChrY:1300548	CSF2RA	A157T, A290T, A280T	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200408540.	NM_172245.4(CSF2RA):c.947-14G>A GRCh37: ChrX:1422802 ChrY:1372802 GRCh38: ChrX:1303909 ChrY:1303909	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 199405441.	NM_172245.4(CSF2RA):c.76+17G>A GRCh37: ChrX:1401689 ChrY:1351689 GRCh38: ChrX:1282796 ChrY:1282796	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 199336242.	NM_172245.4(CSF2RA):c.810+11C>A GRCh37: ChrX:1414360 ChrY:1364360 GRCh38: ChrX:1295467 ChrY:1295467	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 198591843.	NM_172245.4(CSF2RA):c.893C>T (p.Ala298Val) GRCh37: ChrX:1419466 ChrY:1369466 GRCh38: ChrX:1300573 ChrY:1300573	CSF2RA	A165V, A298V, A288V	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 198583444.	NM_172245.4(CSF2RA):c.219+8G>A GRCh37: ChrX:1404821 ChrY:1354821 GRCh38: ChrX:1285928 ChrY:1285928	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 197452545.	NM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly) GRCh37: ChrX:1401631 ChrY:1351631 GRCh38: ChrX:1282738 ChrY:1282738	CSF2RA	E12G	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 197306946.	NM_172245.4(CSF2RA):c.586G>C (p.Gly196Arg) GRCh37: ChrX:1409342 ChrY:1359342 GRCh38: ChrX:1290449 ChrY:1290449	CSF2RA	G63R, G196R	Surfactant metabolism dysfunction, pulmonary, 4	Likely pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 196207447.	NM_172245.4(CSF2RA):c.77-3C>A GRCh37: ChrX:1404668 ChrY:1354668 GRCh38: ChrX:1285775 ChrY:1285775	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 194902848.	NM_172245.4(CSF2RA):c.231C>T (p.Asn77=) GRCh37: ChrX:1407423 ChrY:1357423 GRCh38: ChrY:1288530 ChrX:1288530	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 194818149.	NM_172245.4(CSF2RA):c.647-2A>G GRCh37: ChrX:1413219 ChrY:1363219 GRCh38: ChrX:1294326 ChrY:1294326	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 194561950.	NM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu) GRCh37: ChrX:1409253 ChrY:1359253 GRCh38: ChrX:1290360 ChrY:1290360	CSF2RA	P33L, P166L	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 193578551.	NM_172245.4(CSF2RA):c.219+18T>A GRCh37: ChrX:1404831 ChrY:1354831 GRCh38: ChrX:1285938 ChrY:1285938	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 192987552.	NM_172245.4(CSF2RA):c.1043+19G>T GRCh37: ChrX:1422931 ChrY:1372931 GRCh38: ChrX:1304038 ChrY:1304038	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 192846153.	NM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr) GRCh37: ChrX:1419507 ChrY:1369507 GRCh38: ChrX:1300614 ChrY:1300614	CSF2RA	A179T, A302T, A312T	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 191280354.	NM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp) GRCh37: ChrX:1419407 ChrY:1369407 GRCh38: ChrX:1300514 ChrY:1300514	CSF2RA	E268D, E278D, E145D	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 191203955.	NM_172245.4(CSF2RA):c.474-15T>C GRCh37: ChrX:1409215 ChrY:1359215 GRCh38: ChrX:1290322 ChrY:1290322	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 191030356.	NM_172245.4(CSF2RA):c.720C>T (p.Pro240=) GRCh37: ChrX:1413294 ChrY:1363294 GRCh38: ChrX:1294401 ChrY:1294401	CSF2RA	P234L	Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 190666857.	NM_172245.4(CSF2RA):c.781-12T>C GRCh37: ChrX:1414308 ChrY:1364308 GRCh38: ChrX:1295415 ChrY:1295415	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 190450958.	NM_172245.4(CSF2RA):c.647-13G>T GRCh37: ChrX:1413208 ChrY:1363208 GRCh38: ChrX:1294315 ChrY:1294315	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 171747459.	NM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser) GRCh37: ChrX:1407664 ChrY:1357664 GRCh38: ChrX:1288771 ChrY:1288771	CSF2RA	T119S	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 171718360.	NM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys) GRCh37: ChrX:1407722 ChrY:1357722 GRCh38: ChrX:1288829 ChrY:1288829	CSF2RA	W138C, W5C	Surfactant metabolism dysfunction, pulmonary, 4	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 168567961.	NM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs) GRCh37: ChrX:1419492-1419493 ChrY:1369492-1369493 GRCh38: ChrX:1300599-1300600 ChrY:1300599-1300600	CSF2RA	S175fs, S298fs, S308fs	Surfactant metabolism dysfunction, pulmonary, 4	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168567862.	NM_172245.4(CSF2RA):c.649C>T (p.Arg217Ter) GRCh37: ChrX:1413223 ChrY:1363223 GRCh38: ChrX:1294330 ChrY:1294330	CSF2RA	R217, R84	Surfactant metabolism dysfunction, pulmonary, 4	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167374263.	NM_172245.4(CSF2RA):c.474-9A>C GRCh37: ChrX:1409221 ChrY:1359221 GRCh38: ChrX:1290328 ChrY:1290328	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Feb 25, 2021)	criteria provided, single submitter
Select item 166792864.	NM_172245.4(CSF2RA):c.344-12A>G GRCh37: ChrX:1407640 ChrY:1357640 GRCh38: ChrX:1288747 ChrY:1288747	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 165837365.	NM_172245.4(CSF2RA):c.77-12C>T GRCh37: ChrX:1404659 ChrY:1354659 GRCh38: ChrX:1285766 ChrY:1285766	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 164088666.	NM_172245.4(CSF2RA):c.132G>T (p.Thr44=) GRCh37: ChrX:1404726 ChrY:1354726 GRCh38: ChrX:1285833 ChrY:1285833	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Aug 8, 2021)	criteria provided, single submitter
Select item 164060767.	NM_172245.4(CSF2RA):c.946+18G>A GRCh37: ChrX:1419537 ChrY:1369537 GRCh38: ChrX:1300644 ChrY:1300644	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 164048068.	NM_172245.4(CSF2RA):c.781-20G>A GRCh37: ChrX:1414300 ChrY:1364300 GRCh38: ChrX:1295407 ChrY:1295407	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 162426669.	NM_172245.4(CSF2RA):c.811-4A>G GRCh37: ChrX:1419380 ChrY:1369380 GRCh38: ChrX:1300487 ChrY:1300487	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 162191370.	NM_172245.4(CSF2RA):c.473+17T>A GRCh37: ChrX:1407798 ChrY:1357798 GRCh38: ChrX:1288905 ChrY:1288905	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Aug 5, 2021)	criteria provided, single submitter
Select item 162115671.	NM_172245.4(CSF2RA):c.473+19_473+20del GRCh37: ChrX:1407798-1407799 ChrY:1357798-1357799 GRCh38: ChrX:1288905-1288906 ChrY:1288905-1288906	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 162096972.	NM_172245.4(CSF2RA):c.780+17C>T GRCh37: ChrX:1413371 ChrY:1363371 GRCh38: ChrX:1294478 ChrY:1294478	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 161383873.	NM_172245.4(CSF2RA):c.708G>A (p.Arg236=) GRCh37: ChrX:1413282 ChrY:1363282 GRCh38: ChrX:1294389 ChrY:1294389	CSF2RA	G230D	Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Nov 15, 2021)	criteria provided, single submitter
Select item 161352874.	NM_172245.4(CSF2RA):c.1185C>T (p.Thr395=) GRCh37: ChrX:1428354 ChrY:1378354 GRCh38: ChrX:1309461 ChrY:1309461	CSF2RA	R336C	Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Nov 10, 2021)	criteria provided, single submitter
Select item 160797775.	NM_172245.4(CSF2RA):c.811-19T>A GRCh37: ChrX:1419365 ChrY:1369365 GRCh38: ChrX:1300472 ChrY:1300472	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Oct 3, 2021)	criteria provided, single submitter
Select item 160308276.	NM_172245.4(CSF2RA):c.1044-11_1044-10del GRCh37: ChrX:1424325-1424326 ChrY:1374325-1374326 GRCh38: ChrX:1305432-1305433 ChrY:1305432-1305433	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 159981977.	NM_172245.4(CSF2RA):c.473+12C>T GRCh37: ChrX:1407793 ChrY:1357793 GRCh38: ChrX:1288900 ChrY:1288900	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 159584678.	NM_172245.4(CSF2RA):c.954C>T (p.Asp318=) GRCh37: ChrX:1422823 ChrY:1372823 GRCh38: ChrX:1303930 ChrY:1303930	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 159155679.	NM_172245.4(CSF2RA):c.344-20T>C GRCh37: ChrX:1407632 ChrY:1357632 GRCh38: ChrX:1288739 ChrY:1288739	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 159056680.	NM_172245.4(CSF2RA):c.418A>C (p.Arg140=) GRCh37: ChrX:1407726 ChrY:1357726 GRCh38: ChrX:1288833 ChrY:1288833	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 158869281.	NM_172245.4(CSF2RA):c.77-16T>C GRCh37: ChrX:1404655 ChrY:1354655 GRCh38: ChrX:1285762 ChrY:1285762	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 158665482.	NM_172245.4(CSF2RA):c.344-4C>T GRCh37: ChrX:1407648 ChrY:1357648 GRCh38: ChrX:1288755 ChrY:1288755	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 158538783.	NM_172245.4(CSF2RA):c.960G>C (p.Gly320=) GRCh37: ChrX:1422829 ChrY:1372829 GRCh38: ChrX:1303936 ChrY:1303936	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 158443284.	NM_172245.4(CSF2RA):c.220-18C>G GRCh37: ChrX:1407394 ChrY:1357394 GRCh38: ChrX:1288501 ChrY:1288501	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 158214585.	NM_172245.4(CSF2RA):c.207C>T (p.Val69=) GRCh37: ChrX:1404801 ChrY:1354801 GRCh38: ChrX:1285908 ChrY:1285908	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 158084886.	NM_172245.4(CSF2RA):c.426G>A (p.Pro142=) GRCh37: ChrX:1407734 ChrY:1357734 GRCh38: ChrX:1288841 ChrY:1288841	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 157999587.	NM_172245.4(CSF2RA):c.946+8T>C GRCh37: ChrX:1419527 ChrY:1369527 GRCh38: ChrX:1300634 ChrY:1300634	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 157490988.	NM_172245.4(CSF2RA):c.408T>C (p.Cys136=) GRCh37: ChrX:1407716 ChrY:1357716 GRCh38: ChrX:1288823 ChrY:1288823	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 157452089.	NM_172245.4(CSF2RA):c.219+7C>T GRCh37: ChrX:1404820 ChrY:1354820 GRCh38: ChrX:1285927 ChrY:1285927	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 156783990.	NM_172245.4(CSF2RA):c.1020C>T (p.Ile340=) GRCh37: ChrX:1422889 ChrY:1372889 GRCh38: ChrX:1303996 ChrY:1303996	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 156641091.	NM_172245.4(CSF2RA):c.183C>T (p.Phe61=) GRCh37: ChrX:1404777 ChrY:1354777 GRCh38: ChrX:1285884 ChrY:1285884	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Feb 2, 2021)	criteria provided, single submitter
Select item 156506492.	NM_172245.4(CSF2RA):c.1044-20A>G GRCh37: ChrX:1424319 ChrY:1374319 GRCh38: ChrX:1305426 ChrY:1305426	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 156175493.	NM_172245.4(CSF2RA):c.240G>A (p.Ser80=) GRCh37: ChrX:1407432 ChrY:1357432 GRCh38: ChrX:1288539 ChrY:1288539	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 155143594.	NM_172245.4(CSF2RA):c.663C>A (p.Pro221=) GRCh37: ChrX:1413237 ChrY:1363237 GRCh38: ChrX:1294344 ChrY:1294344	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (May 25, 2021)	criteria provided, single submitter
Select item 155074395.	NM_172245.4(CSF2RA):c.77-14C>A GRCh37: ChrX:1404657 ChrY:1354657 GRCh38: ChrX:1285764 ChrY:1285764	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Apr 14, 2021)	criteria provided, single submitter
Select item 154551796.	NM_172245.4(CSF2RA):c.76+7A>G GRCh37: ChrX:1401679 ChrY:1351679 GRCh38: ChrX:1282786 ChrY:1282786	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 154399297.	NM_172245.4(CSF2RA):c.646+20T>A GRCh37: ChrX:1409422 ChrY:1359422 GRCh38: ChrX:1290529 ChrY:1290529	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 154123098.	NM_172245.4(CSF2RA):c.946+13C>T GRCh37: ChrX:1419532 ChrY:1369532 GRCh38: ChrX:1300639 ChrY:1300639	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 153997799.	NM_172245.4(CSF2RA):c.240G>C (p.Ser80=) GRCh37: ChrX:1407432 ChrY:1357432 GRCh38: ChrX:1288539 ChrY:1288539	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 1539422100.	NM_172245.4(CSF2RA):c.27G>A (p.Leu9=) GRCh37: ChrX:1401623 ChrY:1351623 GRCh38: ChrX:1282730 ChrY:1282730	CSF2RA		Surfactant metabolism dysfunction, pulmonary, 4	Likely benign (Oct 14, 2021)	criteria provided, single submitter

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