ClinVar for MedGen (Select 368844) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064434	NM_000542.5(SFTPB):c.761_765dup (p.Ile256fs)	SFTPB (I256fs)	Duplication (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 2627672	NM_000542.5(SFTPB):c.324dup (p.Met109fs)	SFTPB (M109fs)	Duplication (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely pathogenic
Select item 2433325	NM_000542.5(SFTPB):c.479del (p.Leu160fs)	SFTPB (L160fs)	Deletion (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely pathogenic
Select item 1224829	NM_000542.5(SFTPB):c.856+29A>G	SFTPB	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 1 +1 more	GBenign
Select item 1030864	NM_000542.5(SFTPB):c.673-14C>A	SFTPB	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 978726	NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser)	SFTPB (G244S)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GLikely pathogenic
Select item 977497	NM_000542.5(SFTPB):c.673-8C>T	SFTPB	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 972679	NM_001317778.2(SFTPC):c.10G>A (p.Gly4Ser)	SFTPC (G4S)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 899338	NM_000542.5(SFTPB):c.582+5G>A	SFTPB	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 899277	NM_000542.5(SFTPB):c.*1873T>G	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 899276	NM_000542.5(SFTPB):c.*2143C>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 899275	NM_000542.5(SFTPB):c.*2173G>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 898229	NM_000542.5(SFTPB):c.725C>T (p.Ala242Val)	SFTPB (A242V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GConflicting classifications of pathogenicity
Select item 898228	NM_000542.5(SFTPB):c.827G>A (p.Arg276Gln)	SFTPB (R276Q)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GUncertain significance
Select item 896680	NM_000542.5(SFTPB):c.225C>T (p.Ile75=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +1 more	GConflicting classifications of pathogenicity
Select item 896679	NM_000542.5(SFTPB):c.268-14C>T	SFTPB	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 896678	NM_000542.5(SFTPB):c.304G>C (p.Val102Leu)	SFTPB (V102L)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 896677	NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala)	SFTPB (P121A)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GConflicting classifications of pathogenicity
Select item 896676	NM_000542.5(SFTPB):c.373G>A (p.Asp125Asn)	SFTPB (D125N)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 896675	NM_000542.5(SFTPB):c.376T>G (p.Tyr126Asp)	SFTPB (Y126D)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 896603	NM_000542.5(SFTPB):c.1065T>C (p.Asp355=)	SFTPB	Single nucleotide variant (synonymous variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 896602	NM_000542.5(SFTPB):c.*902C>T	SFTPB (P353L)	Single nucleotide variant (3 prime UTR variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 896601	NM_000542.5(SFTPB):c.*922G>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 895247	NM_000542.5(SFTPB):c.413T>C (p.Met138Thr)	SFTPB (M138T)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 895246	NM_000542.5(SFTPB):c.547G>A (p.Gly183Arg)	SFTPB (G183R)	Single nucleotide variant (missense variant)	SFTPB-related condition +1 more	GBenign/Likely benign
Select item 895188	NM_000542.5(SFTPB):c.*1498T>C	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely benign
Select item 895187	NM_000542.5(SFTPB):c.*1591C>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely benign
Select item 895186	NM_000542.5(SFTPB):c.*1756C>G	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 787237	NM_000542.5(SFTPB):c.1029G>A (p.Thr343=)	SFTPB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pulmonary alveolar proteinosis +2 more	GBenign/Likely benign
Select item 757547	NM_000542.5(SFTPB):c.393+9T>G	SFTPB	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 1 +2 more	GBenign/Likely benign
Select item 721228	NM_000542.5(SFTPB):c.190G>A (p.Gly64Arg)	SFTPB (G64R)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 717895	NM_000542.5(SFTPB):c.1136C>G (p.Pro379Arg)	SFTPB (P379R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 631868	NM_000542.5(SFTPB):c.361_362insAA (p.Pro121fs)	SFTPB (P121fs)	Insertion (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 1	GPathogenic
Select item 619287	NM_000542.5(SFTPB):c.352G>A (p.Asp118Asn)	SFTPB (D118N)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GUncertain significance
Select item 596954	NM_000542.5(SFTPB):c.526C>T (p.Leu176Phe)	SFTPB (L176F)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1 +4 more	GBenign/Likely benign
Select item 593184	NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)	SFTPB (G135S)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 587605	NM_000542.5(SFTPB):c.1084-1G>A	SFTPB	Single nucleotide variant (splice acceptor variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 1	GPathogenic
Select item 587503	NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val)	ABCA3 (L409V)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337316	NM_000542.3(SFTPB):c.-73C>G	SFTPB	Single nucleotide variant (5 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337315	NM_000542.3(SFTPB):c.-23G>A	SFTPB	Single nucleotide variant (5 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337314	NM_000542.3(SFTPB):c.6C>T (p.His2=)	SFTPB	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337313	NM_000542.5(SFTPB):c.32T>C (p.Leu11Pro)	SFTPB (L11P)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 337312	NM_000542.5(SFTPB):c.41T>C (p.Leu14Pro)	SFTPB (L14P)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337311	NM_000542.5(SFTPB):c.136G>T (p.Ala46Ser)	SFTPB (A46S)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337310	NM_000542.5(SFTPB):c.546C>T (p.Pro182=)	SFTPB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337309	NM_000542.5(SFTPB):c.560C>T (p.Ala187Val)	SFTPB (A187V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 337308	NM_000542.5(SFTPB):c.570G>C (p.Gly190=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +1 more	GConflicting classifications of pathogenicity
Select item 337307	NM_000542.5(SFTPB):c.583-15T>C	SFTPB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337306	NM_000542.5(SFTPB):c.633C>T (p.Cys211=)	SFTPB	Single nucleotide variant (synonymous variant)	Surfactant metabolism dysfunction, pulmonary, 1 +2 more	GBenign/Likely benign
Select item 337305	NM_000542.5(SFTPB):c.650G>A (p.Arg217Gln)	SFTPB (R217Q)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337304	NM_000542.5(SFTPB):c.780G>A (p.Thr260=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +1 more	GConflicting classifications of pathogenicity
Select item 337303	NM_000542.5(SFTPB):c.815G>A (p.Arg272His)	SFTPB (R272H)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GBenign/Likely benign
Select item 337302	NM_000542.5(SFTPB):c.847G>A (p.Ala283Thr)	SFTPB (A283T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 337301	NM_000542.5(SFTPB):c.928G>A (p.Gly310Arg)	SFTPB (G310R)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337300	NM_000542.5(SFTPB):c.1090G>A (p.Gly364Arg)	SFTPB (G364R)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337299	NM_000542.5(SFTPB):c.1138G>A (p.Asp380Asn)	SFTPB (D380N)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 337298	NM_000542.5(SFTPB):c.*857C>T	SFTPB (P338L)	Single nucleotide variant (3 prime UTR variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 1	GBenign
Select item 337297	NM_000542.5(SFTPB):c.*1189A>C	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GBenign
Select item 337296	NM_000542.5(SFTPB):c.*1488A>G	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337295	NM_000542.5(SFTPB):c.*1607G>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337294	NM_000542.5(SFTPB):c.*1640T>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely benign
Select item 337293	NM_000542.5(SFTPB):c.*1805G>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337292	NM_000542.5(SFTPB):c.*1847C>T	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GBenign
Select item 337291	NM_000542.5(SFTPB):c.*1848G>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely benign
Select item 337290	NM_000542.5(SFTPB):c.*1877C>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely benign
Select item 337289	NM_000542.5(SFTPB):c.*1901C>T	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely benign
Select item 337288	NM_000542.5(SFTPB):c.*1912G>A	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely benign
Select item 337287	NM_000542.5(SFTPB):c.*2062C>T	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 337286	NM_000542.5(SFTPB):c.*2366A>C	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 263205	NM_000542.5(SFTPB):c.856+16A>C	SFTPB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 227073	NM_000542.5(SFTPB):c.708C>T (p.Arg236=)	SFTPB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 227072	NM_000542.5(SFTPB):c.529G>A (p.Val177Ile)	SFTPB (V177I)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1 +3 more	GBenign
Select item 198927	NM_000542.5(SFTPB):c.826C>T (p.Arg276Trp)	SFTPB (R276W)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GUncertain significance
Select item 178807	NM_000542.5(SFTPB):c.548G>A (p.Gly183Glu)	SFTPB (G183E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 165208	NM_000542.3(SFTPB):c.5A>C (p.His2Pro)	SFTPB	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 165207	NM_000542.5(SFTPB):c.48G>A (p.Thr16=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +3 more	GBenign
Select item 165206	NM_000542.5(SFTPB):c.196-8C>A	SFTPB	Single nucleotide variant (intron variant)	Hereditary pulmonary alveolar proteinosis +3 more	GBenign
Select item 165205	NM_000542.5(SFTPB):c.291G>A (p.Glu97=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +3 more	GBenign/Likely benign
Select item 165204	NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile)	SFTPB (T131I)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +3 more	GBenign
Select item 165202	NM_000542.5(SFTPB):c.843C>T (p.Asp281=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +3 more	GBenign
Select item 13205	NM_000542.5(SFTPB):c.465G>T (p.Gly155=)	SFTPB	Single nucleotide variant (synonymous variant)	Surfactant metabolism dysfunction, pulmonary, 1	GPathogenic
Select item 13204	NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys)	SFTPB (R236C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13203	SFTPB, 1-BP DEL, 457C	SFTPB	Deletion	Surfactant metabolism dysfunction, pulmonary, 1	GPathogenic
Select item 13202	NM_000542.5(SFTPB):c.365del (p.Leu122fs)	SFTPB (L122fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 13201	NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs)	SFTPB (P121fs)	Indel (frameshift variant)	not provided +2 more	GPathogenic

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Items: 85