ClinVar for MedGen (Select 393858) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022750	NM_172245.4(CSF2RA):c.360T>C (p.Ala120=)	CSF2RA	Single nucleotide variant (synonymous variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 3021408	NM_172245.4(CSF2RA):c.560C>T (p.Thr187Met)	CSF2RA (T187M +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 3019550	NM_172245.4(CSF2RA):c.77-18A>G	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 3016514	NM_172245.4(CSF2RA):c.343+19G>C	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 3010625	NM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser)	CSF2RA (N54S)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 3009712	NM_172245.4(CSF2RA):c.220-6C>G	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 3008149	NM_172245.4(CSF2RA):c.1126-15C>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 3005387	NM_172245.4(CSF2RA):c.213A>G (p.Glu71=)	CSF2RA	Single nucleotide variant (synonymous variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2999094	NM_172245.4(CSF2RA):c.810+18C>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2998923	NM_172245.4(CSF2RA):c.744C>T (p.Tyr248=)	CSF2RA (T242I)	Single nucleotide variant (synonymous variant +3 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2998489	NM_172245.4(CSF2RA):c.220-6C>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2985678	NM_172245.4(CSF2RA):c.647-14C>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2983365	NM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu)	CSF2RA (S25L)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2977311	NM_172245.4(CSF2RA):c.1167C>T (p.Tyr389=)	CSF2RA (P330S)	Single nucleotide variant (non-coding transcript variant +4 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2913222	NM_172245.4(CSF2RA):c.291C>T (p.His97=)	CSF2RA	Single nucleotide variant (synonymous variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2900570	NM_172245.4(CSF2RA):c.947-10G>C	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2893403	NM_172245.4(CSF2RA):c.780+18G>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2886776	NM_172245.4(CSF2RA):c.726C>A (p.Thr242=)	CSF2RA (P236H)	Single nucleotide variant (synonymous variant +3 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2879805	NM_172245.4(CSF2RA):c.220-10A>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2878425	NM_172245.4(CSF2RA):c.781-18G>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2869363	NM_172245.4(CSF2RA):c.220-12G>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2850915	NM_172245.4(CSF2RA):c.531A>T (p.Gly177=)	CSF2RA	Single nucleotide variant (synonymous variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2850347	NM_172245.4(CSF2RA):c.810+20C>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2817095	NM_172245.4(CSF2RA):c.865del (p.Arg289fs)	CSF2RA (R156fs +2 more)	Deletion (frameshift variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GPathogenic
Select item 2815456	NM_172245.4(CSF2RA):c.537C>T (p.His179=)	CSF2RA	Single nucleotide variant (synonymous variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2805729	NM_172245.4(CSF2RA):c.147G>A (p.Trp49Ter)	CSF2RA (W49*)	Single nucleotide variant (nonsense +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GPathogenic
Select item 2801803	NM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro)	CSF2RA (A33P)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2800516	NM_172245.4(CSF2RA):c.76+11A>G	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2797198	NM_172245.4(CSF2RA):c.780+12C>G	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2796678	NM_172245.4(CSF2RA):c.76+14C>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2788434	NM_172245.4(CSF2RA):c.555A>G (p.Gly185=)	CSF2RA	Single nucleotide variant (synonymous variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2785274	NM_172245.4(CSF2RA):c.669dup (p.Val224fs)	CSF2RA (M217fs +2 more)	Duplication (frameshift variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GPathogenic
Select item 2769554	NM_172245.4(CSF2RA):c.480G>A (p.Arg160=)	CSF2RA	Single nucleotide variant (synonymous variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2769218	NM_172245.4(CSF2RA):c.330T>C (p.Leu110=)	CSF2RA	Single nucleotide variant (synonymous variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2760166	NM_172245.4(CSF2RA):c.12G>C (p.Leu4=)	CSF2RA	Single nucleotide variant (synonymous variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2747284	NM_172245.4(CSF2RA):c.220-7T>C	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2728861	NM_172245.4(CSF2RA):c.811-9C>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2724403	NM_172245.4(CSF2RA):c.437G>A (p.Arg146His)	CSF2RA (R146H +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2697402	NM_172245.4(CSF2RA):c.810+18C>G	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2584842	NM_172245.4(CSF2RA):c.581T>G (p.Val194Gly)	CSF2RA (V61G +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2418056	NM_172245.4(CSF2RA):c.370T>G (p.Phe124Val)	CSF2RA (F124V)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2199390	NM_172245.4(CSF2RA):c.1125+16C>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2198947	NM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln)	CSF2RA (R84Q +1 more)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2189920	NM_172245.4(CSF2RA):c.1043+1G>A	CSF2RA	Single nucleotide variant (splice donor variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely pathogenic
Select item 2181313	NM_172245.4(CSF2RA):c.1128C>A (p.Ile376=)	CSF2RA (H317N)	Single nucleotide variant (3 prime UTR variant +4 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2180397	NM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp)	CSF2RA (E311D +2 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2179867	NM_172245.4(CSF2RA):c.343+14C>G	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2177734	NM_172245.4(CSF2RA):c.1110T>C (p.His370=)	CSF2RA	Single nucleotide variant (synonymous variant +3 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2176597	NM_172245.4(CSF2RA):c.946+14G>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2173250	NM_172245.4(CSF2RA):c.552A>G (p.Ser184=)	CSF2RA	Single nucleotide variant (synonymous variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2166667	NM_172245.4(CSF2RA):c.344-16T>C	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2165561	NM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser)	CSF2RA (T197S +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2162553	NM_172245.4(CSF2RA):c.25C>T (p.Leu9=)	CSF2RA	Single nucleotide variant (synonymous variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2159348	NM_172245.4(CSF2RA):c.266A>G (p.His89Arg)	CSF2RA (H89R)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2159333	NM_172245.4(CSF2RA):c.1169G>A (p.Arg390His)	CSF2RA (R257H +4 more)	Single nucleotide variant (missense variant +4 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2146503	NM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln)	CSF2RA (P391Q +6 more)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2143172	NM_172245.4(CSF2RA):c.677T>C (p.Val226Ala)	CSF2RA (Y220H +2 more)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2133690	NM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys)	CSF2RA (T6K)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2133527	NM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp)	CSF2RA (N135D +1 more)	Single nucleotide variant (missense variant +3 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2099462	NM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser)	CSF2RA (N261S +2 more)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2096485	NM_172245.4(CSF2RA):c.811-11T>C	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2093584	NM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala)	CSF2RA (E258A +4 more)	Single nucleotide variant (missense variant +4 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2090258	NM_172245.4(CSF2RA):c.957C>T (p.Asp319=)	CSF2RA	Single nucleotide variant (synonymous variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2088381	NM_172245.4(CSF2RA):c.495T>C (p.Cys165=)	CSF2RA	Single nucleotide variant (synonymous variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2088110	NM_172245.4(CSF2RA):c.350_353del (p.Glu117fs)	CSF2RA (E117fs)	Microsatellite (frameshift variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GPathogenic
Select item 2086187	NM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu)	CSF2RA (S39L +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2076998	NM_172245.4(CSF2RA):c.344-5C>G	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2071109	NM_172245.4(CSF2RA):c.768C>T (p.Asp256=)	CSF2RA (T250M)	Single nucleotide variant (synonymous variant +3 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2062626	NM_172245.4(CSF2RA):c.447G>C (p.Gln149His)	CSF2RA (Q149H +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2062607	NM_172245.4(CSF2RA):c.341C>G (p.Ser114Ter)	CSF2RA (S114*)	Single nucleotide variant (nonsense +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GPathogenic
Select item 2058945	NM_172245.4(CSF2RA):c.77-11G>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2049310	NM_172245.4(CSF2RA):c.318A>G (p.Gln106=)	CSF2RA	Single nucleotide variant (synonymous variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2043498	NM_172245.4(CSF2RA):c.1125+20G>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2027372	NM_172245.4(CSF2RA):c.473+17T>C	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2027371	NM_172245.4(CSF2RA):c.473+14_473+15del	CSF2RA	Deletion (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2019830	NM_172245.4(CSF2RA):c.825T>C (p.Gly275=)	CSF2RA	Single nucleotide variant (synonymous variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 2010298	NM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg)	CSF2RA (R224G +2 more)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2010102	NM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr)	CSF2RA (A157T +2 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 2004085	NM_172245.4(CSF2RA):c.947-14G>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1994054	NM_172245.4(CSF2RA):c.76+17G>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1993362	NM_172245.4(CSF2RA):c.810+11C>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1985918	NM_172245.4(CSF2RA):c.893C>T (p.Ala298Val)	CSF2RA (A165V +2 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 1985834	NM_172245.4(CSF2RA):c.219+8G>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1974525	NM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly)	CSF2RA (E12G)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 1973069	NM_172245.4(CSF2RA):c.586G>C (p.Gly196Arg)	CSF2RA (G63R +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely pathogenic
Select item 1962074	NM_172245.4(CSF2RA):c.77-3C>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 1949028	NM_172245.4(CSF2RA):c.231C>T (p.Asn77=)	CSF2RA	Single nucleotide variant (synonymous variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1948181	NM_172245.4(CSF2RA):c.647-2A>G	CSF2RA	Single nucleotide variant (splice acceptor variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely pathogenic
Select item 1945619	NM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu)	CSF2RA (P33L +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 1935785	NM_172245.4(CSF2RA):c.219+18T>A	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1929875	NM_172245.4(CSF2RA):c.1043+19G>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1928461	NM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr)	CSF2RA (A179T +2 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 1912803	NM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp)	CSF2RA (E268D +2 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 1912039	NM_172245.4(CSF2RA):c.474-15T>C	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1910303	NM_172245.4(CSF2RA):c.720C>T (p.Pro240=)	CSF2RA (P234L)	Single nucleotide variant (synonymous variant +3 more)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1906668	NM_172245.4(CSF2RA):c.781-12T>C	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GLikely benign
Select item 1904509	NM_172245.4(CSF2RA):c.647-13G>T	CSF2RA	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 1717474	NM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser)	CSF2RA (T119S)	Single nucleotide variant (missense variant +2 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 1717183	NM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys)	CSF2RA (W138C +1 more)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GUncertain significance
Select item 1685679	NM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs)	CSF2RA (S175fs +2 more)	Duplication (frameshift variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 4	GPathogenic

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