ClinVar for MedGen (Select 368844) - ClinVar

Links from MedGen

Items: 84

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26276721.	NM_000542.5(SFTPB):c.324dup (p.Met109fs) GRCh37: Chr2:85893808-85893809 GRCh38: Chr2:85666685-85666686	SFTPB	M109fs	Neonatal acute respiratory distress due to SP-B deficiency	Likely pathogenic	criteria provided, single submitter
Select item 24333252.	NM_000542.5(SFTPB):c.479del (p.Leu160fs) GRCh37: Chr2:85892832 GRCh38: Chr2:85665709	SFTPB	L160fs	Neonatal acute respiratory distress due to SP-B deficiency	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 12248293.	NM_000542.5(SFTPB):c.856+29A>G GRCh37: Chr2:85890758 GRCh38: Chr2:85663635	SFTPB		not provided, Neonatal acute respiratory distress due to SP-B deficiency	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10308644.	NM_000542.5(SFTPB):c.673-14C>A GRCh37: Chr2:85890984 GRCh38: Chr2:85663861	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Apr 8, 2020)	criteria provided, single submitter
Select item 9787265.	NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser) GRCh37: Chr2:85890913 GRCh38: Chr2:85663790	SFTPB	G244S	Hereditary pulmonary alveolar proteinosis	Likely pathogenic (Jun 13, 2017)	criteria provided, single submitter
Select item 9774976.	NM_000542.5(SFTPB):c.673-8C>T GRCh37: Chr2:85890978 GRCh38: Chr2:85663855	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Aug 27, 2020)	criteria provided, single submitter
Select item 9726797.	NM_001317778.2(SFTPC):c.10G>A (p.Gly4Ser) GRCh37: Chr8:22019351 GRCh38: Chr8:22161838	SFTPC	G4S	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jun 28, 2019)	criteria provided, single submitter
Select item 8993388.	NM_000542.5(SFTPB):c.582+5G>A GRCh37: Chr2:85892724 GRCh38: Chr2:85665601	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8992779.	NM_000542.5(SFTPB):c.*1873T>G GRCh37: Chr2:85884952 GRCh38: Chr2:85657829	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89927610.	NM_000542.5(SFTPB):c.*2143C>A GRCh37: Chr2:85884682 GRCh38: Chr2:85657559	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89927511.	NM_000542.5(SFTPB):c.*2173G>A GRCh37: Chr2:85884652 GRCh38: Chr2:85657529	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89822912.	NM_000542.5(SFTPB):c.725C>T (p.Ala242Val) GRCh37: Chr2:85890918 GRCh38: Chr2:85663795	SFTPB	A242V	Hereditary pulmonary alveolar proteinosis, Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 89822813.	NM_000542.5(SFTPB):c.827G>A (p.Arg276Gln) GRCh37: Chr2:85890816 GRCh38: Chr2:85663693	SFTPB	R276Q	Hereditary pulmonary alveolar proteinosis, Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, multiple submitters, no conflicts
Select item 89668014.	NM_000542.5(SFTPB):c.225C>T (p.Ile75=) GRCh37: Chr2:85894271 GRCh38: Chr2:85667148	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89667915.	NM_000542.5(SFTPB):c.268-14C>T GRCh37: Chr2:85893879 GRCh38: Chr2:85666756	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89667816.	NM_000542.5(SFTPB):c.304G>C (p.Val102Leu) GRCh37: Chr2:85893829 GRCh38: Chr2:85666706	SFTPB	V102L	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89667717.	NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala) GRCh37: Chr2:85893772 GRCh38: Chr2:85666649	SFTPB	P121A	Hereditary pulmonary alveolar proteinosis, Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Feb 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89667618.	NM_000542.5(SFTPB):c.373G>A (p.Asp125Asn) GRCh37: Chr2:85893760 GRCh38: Chr2:85666637	SFTPB	D125N	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89667519.	NM_000542.5(SFTPB):c.376T>G (p.Tyr126Asp) GRCh37: Chr2:85893757 GRCh38: Chr2:85666634	SFTPB	Y126D	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89660320.	NM_000542.5(SFTPB):c.1065T>C (p.Asp355=) GRCh37: Chr2:85889170 GRCh38: Chr2:85662047	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89660221.	NM_000542.5(SFTPB):c.*902C>T GRCh37: Chr2:85885923 GRCh38: Chr2:85658800	SFTPB	P353L	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89660122.	NM_000542.5(SFTPB):c.*922G>A GRCh37: Chr2:85885903 GRCh38: Chr2:85658780	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Aug 12, 2020)	criteria provided, multiple submitters, no conflicts
Select item 89524723.	NM_000542.5(SFTPB):c.413T>C (p.Met138Thr) GRCh37: Chr2:85892898 GRCh38: Chr2:85665775	SFTPB	M138T	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 89524624.	NM_000542.5(SFTPB):c.547G>A (p.Gly183Arg) GRCh37: Chr2:85892764 GRCh38: Chr2:85665641	SFTPB	G183R	Neonatal acute respiratory distress due to SP-B deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89518825.	NM_000542.5(SFTPB):c.*1498T>C GRCh37: Chr2:85885327 GRCh38: Chr2:85658204	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89518726.	NM_000542.5(SFTPB):c.*1591C>A GRCh37: Chr2:85885234 GRCh38: Chr2:85658111	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89518627.	NM_000542.5(SFTPB):c.*1756C>G GRCh37: Chr2:85885069 GRCh38: Chr2:85657946	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 78723728.	NM_000542.5(SFTPB):c.1029G>A (p.Thr343=) GRCh37: Chr2:85889206 GRCh38: Chr2:85662083	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency, Hereditary pulmonary alveolar proteinosis, not provided	Benign/Likely benign (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75754729.	NM_000542.5(SFTPB):c.393+9T>G GRCh37: Chr2:85893731 GRCh38: Chr2:85666608	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency, not provided	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72122830.	NM_000542.5(SFTPB):c.190G>A (p.Gly64Arg) GRCh37: Chr2:85894807 GRCh38: Chr2:85667684	SFTPB	G64R	Hereditary pulmonary alveolar proteinosis, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Conflicting interpretations of pathogenicity (Sep 16, 2021)	criteria provided, conflicting interpretations
Select item 71789531.	NM_000542.5(SFTPB):c.1136C>G (p.Pro379Arg) GRCh37: Chr2:85888606 GRCh38: Chr2:85661483	SFTPB	P379R	not provided, Neonatal acute respiratory distress due to SP-B deficiency	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63186832.	NM_000542.5(SFTPB):c.361_362insAA (p.Pro121fs) GRCh37: Chr2:85893771-85893772 GRCh38: Chr2:85666648-85666649	SFTPB	P121fs	Neonatal acute respiratory distress due to SP-B deficiency	Pathogenic (Dec 11, 2018)	criteria provided, single submitter
Select item 61928733.	NM_000542.5(SFTPB):c.352G>A (p.Asp118Asn) GRCh37: Chr2:85893781 GRCh38: Chr2:85666658	SFTPB	D118N	Neonatal acute respiratory distress due to SP-B deficiency, Hereditary pulmonary alveolar proteinosis	Uncertain significance (Feb 8, 2019)	criteria provided, multiple submitters, no conflicts
Select item 59695434.	NM_000542.5(SFTPB):c.526C>T (p.Leu176Phe) GRCh37: Chr2:85892785 GRCh38: Chr2:85665662	SFTPB	L176F	Hereditary pulmonary alveolar proteinosis, Neonatal acute respiratory distress due to SP-B deficiency, not provided, not specified	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59318435.	NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) GRCh37: Chr2:85892908 GRCh38: Chr2:85665785	SFTPB	G135S	Neonatal acute respiratory distress due to SP-B deficiency, not provided, Hereditary pulmonary alveolar proteinosis	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 58760536.	NM_000542.5(SFTPB):c.1084-1G>A GRCh37: Chr2:85888659 GRCh38: Chr2:85661536	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Pathogenic (Aug 7, 2018)	criteria provided, single submitter
Select item 58750337.	NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val) GRCh37: Chr16:2358511 GRCh38: Chr16:2308510	ABCA3	L409V	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 33731638.	NM_000542.3(SFTPB):c.-73C>G GRCh37: Chr2:85895837 GRCh38: Chr2:85668714	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33731539.	NM_000542.3(SFTPB):c.-23G>A GRCh37: Chr2:85895365 GRCh38: Chr2:85668242	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33731440.	NM_000542.3(SFTPB):c.6C>T (p.His2=) GRCh37: Chr2:85895337 GRCh38: Chr2:85668214	SFTPB		Hereditary pulmonary alveolar proteinosis, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 33731341.	NM_000542.5(SFTPB):c.32T>C (p.Leu11Pro) GRCh37: Chr2:85895275 GRCh38: Chr2:85668152	SFTPB	L11P	Hereditary pulmonary alveolar proteinosis, Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33731242.	NM_000542.5(SFTPB):c.41T>C (p.Leu14Pro) GRCh37: Chr2:85895266 GRCh38: Chr2:85668143	SFTPB	L14P	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33731143.	NM_000542.5(SFTPB):c.136G>T (p.Ala46Ser) GRCh37: Chr2:85894861 GRCh38: Chr2:85667738	SFTPB	A46S	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33731044.	NM_000542.5(SFTPB):c.546C>T (p.Pro182=) GRCh37: Chr2:85892765 GRCh38: Chr2:85665642	SFTPB		not provided, Neonatal acute respiratory distress due to SP-B deficiency	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 33730945.	NM_000542.5(SFTPB):c.560C>T (p.Ala187Val) GRCh37: Chr2:85892751 GRCh38: Chr2:85665628	SFTPB	A187V	not provided, Hereditary pulmonary alveolar proteinosis, Neonatal acute respiratory distress due to SP-B deficiency	Conflicting interpretations of pathogenicity (Jan 18, 2021)	criteria provided, conflicting interpretations
Select item 33730846.	NM_000542.5(SFTPB):c.570G>C (p.Gly190=) GRCh37: Chr2:85892741 GRCh38: Chr2:85665618	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33730747.	NM_000542.5(SFTPB):c.583-15T>C GRCh37: Chr2:85892516 GRCh38: Chr2:85665393	SFTPB		not provided, Neonatal acute respiratory distress due to SP-B deficiency	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 33730648.	NM_000542.5(SFTPB):c.633C>T (p.Cys211=) GRCh37: Chr2:85892451 GRCh38: Chr2:85665328	SFTPB		not provided, Neonatal acute respiratory distress due to SP-B deficiency, Hereditary pulmonary alveolar proteinosis	Benign/Likely benign (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33730549.	NM_000542.5(SFTPB):c.650G>A (p.Arg217Gln) GRCh37: Chr2:85892434 GRCh38: Chr2:85665311	SFTPB	R217Q	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33730450.	NM_000542.5(SFTPB):c.780G>A (p.Thr260=) GRCh37: Chr2:85890863 GRCh38: Chr2:85663740	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency, Hereditary pulmonary alveolar proteinosis	Conflicting interpretations of pathogenicity (Jun 5, 2023)	criteria provided, conflicting interpretations
Select item 33730351.	NM_000542.5(SFTPB):c.815G>A (p.Arg272His) GRCh37: Chr2:85890828 GRCh38: Chr2:85663705	SFTPB	R272H	not provided, Neonatal acute respiratory distress due to SP-B deficiency, Hereditary pulmonary alveolar proteinosis	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33730252.	NM_000542.5(SFTPB):c.847G>A (p.Ala283Thr) GRCh37: Chr2:85890796 GRCh38: Chr2:85663673	SFTPB	A283T	Hereditary pulmonary alveolar proteinosis, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33730153.	NM_000542.5(SFTPB):c.928G>A (p.Gly310Arg) GRCh37: Chr2:85890543 GRCh38: Chr2:85663420	SFTPB	G310R	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33730054.	NM_000542.5(SFTPB):c.1090G>A (p.Gly364Arg) GRCh37: Chr2:85888652 GRCh38: Chr2:85661529	SFTPB	G364R	Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33729955.	NM_000542.5(SFTPB):c.1138G>A (p.Asp380Asn) GRCh37: Chr2:85888604 GRCh38: Chr2:85661481	SFTPB	D380N	Hereditary pulmonary alveolar proteinosis, Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Sep 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33729856.	NM_000542.5(SFTPB):c.*857C>T GRCh37: Chr2:85885968 GRCh38: Chr2:85658845	SFTPB	P338L	Neonatal acute respiratory distress due to SP-B deficiency	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33729757.	NM_000542.5(SFTPB):c.*1189A>C GRCh37: Chr2:85885636 GRCh38: Chr2:85658513	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33729658.	NM_000542.5(SFTPB):c.*1488A>G GRCh37: Chr2:85885337 GRCh38: Chr2:85658214	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33729559.	NM_000542.5(SFTPB):c.*1607G>A GRCh37: Chr2:85885218 GRCh38: Chr2:85658095	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33729460.	NM_000542.5(SFTPB):c.*1640T>A GRCh37: Chr2:85885185 GRCh38: Chr2:85658062	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33729361.	NM_000542.5(SFTPB):c.*1805G>A GRCh37: Chr2:85885020 GRCh38: Chr2:85657897	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33729262.	NM_000542.5(SFTPB):c.*1847C>T GRCh37: Chr2:85884978 GRCh38: Chr2:85657855	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33729163.	NM_000542.5(SFTPB):c.*1848G>A GRCh37: Chr2:85884977 GRCh38: Chr2:85657854	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33729064.	NM_000542.5(SFTPB):c.*1877C>A GRCh37: Chr2:85884948 GRCh38: Chr2:85657825	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33728965.	NM_000542.5(SFTPB):c.*1901C>T GRCh37: Chr2:85884924 GRCh38: Chr2:85657801	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33728866.	NM_000542.5(SFTPB):c.*1912G>A GRCh37: Chr2:85884913 GRCh38: Chr2:85657790	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33728767.	NM_000542.5(SFTPB):c.*2062C>T GRCh37: Chr2:85884763 GRCh38: Chr2:85657640	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33728668.	NM_000542.5(SFTPB):c.*2366A>C GRCh37: Chr2:85884459 GRCh38: Chr2:85657336	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 26320569.	NM_000542.5(SFTPB):c.856+16A>C GRCh37: Chr2:85890771 GRCh38: Chr2:85663648	SFTPB		not provided, not specified, Hereditary pulmonary alveolar proteinosis, Neonatal acute respiratory distress due to SP-B deficiency	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22707370.	NM_000542.5(SFTPB):c.708C>T (p.Arg236=) GRCh37: Chr2:85890935 GRCh38: Chr2:85663812	SFTPB		not specified, Neonatal acute respiratory distress due to SP-B deficiency, Hereditary pulmonary alveolar proteinosis, not provided	Benign/Likely benign (May 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22707271.	NM_000542.5(SFTPB):c.529G>A (p.Val177Ile) GRCh37: Chr2:85892782 GRCh38: Chr2:85665659	SFTPB	V177I	Hereditary pulmonary alveolar proteinosis, not provided, Neonatal acute respiratory distress due to SP-B deficiency, not specified	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19892772.	NM_000542.5(SFTPB):c.826C>T (p.Arg276Trp) GRCh37: Chr2:85890817 GRCh38: Chr2:85663694	SFTPB	R276W	not provided, Inborn genetic diseases, Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17880773.	NM_000542.5(SFTPB):c.548G>A (p.Gly183Glu) GRCh37: Chr2:85892763 GRCh38: Chr2:85665640	SFTPB	G183E	not specified, Neonatal acute respiratory distress due to SP-B deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 16520874.	NM_000542.3(SFTPB):c.5A>C (p.His2Pro) GRCh37: Chr2:85895338 GRCh38: Chr2:85668215	SFTPB		Hereditary pulmonary alveolar proteinosis, not specified, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16520775.	NM_000542.5(SFTPB):c.48G>A (p.Thr16=) GRCh37: Chr2:85895259 GRCh38: Chr2:85668136	SFTPB		Hereditary pulmonary alveolar proteinosis, not specified, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16520676.	NM_000542.5(SFTPB):c.196-8C>A GRCh37: Chr2:85894308 GRCh38: Chr2:85667185	SFTPB		Hereditary pulmonary alveolar proteinosis, not specified, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16520577.	NM_000542.5(SFTPB):c.291G>A (p.Glu97=) GRCh37: Chr2:85893842 GRCh38: Chr2:85666719	SFTPB		Hereditary pulmonary alveolar proteinosis, not specified, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Benign/Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16520478.	NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile) GRCh37: Chr2:85893741 GRCh38: Chr2:85666618	SFTPB	T131I	not specified, Hereditary pulmonary alveolar proteinosis, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16520279.	NM_000542.5(SFTPB):c.843C>T (p.Asp281=) GRCh37: Chr2:85890800 GRCh38: Chr2:85663677	SFTPB		Hereditary pulmonary alveolar proteinosis, not specified, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1320580.	NM_000542.5(SFTPB):c.465G>T (p.Gly155=) GRCh37: Chr2:85892846 GRCh38: Chr2:85665723	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Pathogenic (Sep 1, 2000)	no assertion criteria provided
Select item 1320481.	NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys) GRCh37: Chr2:85890937 GRCh38: Chr2:85663814	SFTPB	R236C	Hereditary pulmonary alveolar proteinosis, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Conflicting interpretations of pathogenicity (Feb 4, 2022)	criteria provided, conflicting interpretations
Select item 1320382.	SFTPB, 1-BP DEL, 457C	SFTPB		Neonatal acute respiratory distress due to SP-B deficiency	Pathogenic (Jan 1, 1999)	no assertion criteria provided
Select item 1320283.	NM_000542.5(SFTPB):c.365del (p.Leu122fs) GRCh37: Chr2:85893768 GRCh38: Chr2:85666645	SFTPB	L122fs	not provided	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 1320184.	NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs) GRCh37: Chr2:85893772 GRCh38: Chr2:85666649	SFTPB	P121fs	Hereditary pulmonary alveolar proteinosis, not provided, Neonatal acute respiratory distress due to SP-B deficiency	Pathogenic (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 84