SFTPB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 337292	NM_000542.5(SFTPB):c.*1847C>T	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GBenign
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 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 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 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 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 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 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 337297	NM_000542.5(SFTPB):c.*1189A>C	SFTPB	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 1	GBenign
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 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 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 1244287	NM_000542.5(SFTPB):c.*19+284T>C	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1740500	NM_000542.5(SFTPB):c.1139A>T (p.Asp380Val)	SFTPB (D380V)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	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 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 1676887	NM_000542.5(SFTPB):c.1129C>T (p.His377Tyr)	SFTPB (H377Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3027368	NM_000542.5(SFTPB):c.1113C>T (p.Ser371=)	SFTPB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1732352	NM_000542.5(SFTPB):c.1109C>T (p.Ser370Phe)	SFTPB (S370F)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 3160958	NM_000542.5(SFTPB):c.1106T>C (p.Met369Thr)	SFTPB (M369T)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GLikely benign
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 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 744517	NM_000542.5(SFTPB):c.1084-9C>T	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195689	NM_000542.5(SFTPB):c.1084-126C>G	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987157	NM_000542.5(SFTPB):c.1083+20T>C	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1571142	NM_000542.5(SFTPB):c.1083+7C>T	SFTPB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2385366	NM_000542.5(SFTPB):c.1051C>T (p.Pro351Ser)	SFTPB (P351S)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GLikely benign
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 1368943	NM_000542.5(SFTPB):c.1028C>T (p.Thr343Met)	SFTPB (T343M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1778926	NM_000542.5(SFTPB):c.1021C>G (p.Gln341Glu)	SFTPB (Q341E)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1775459	NM_000542.5(SFTPB):c.1010A>T (p.Gln337Leu)	SFTPB (Q337L)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1273105	NM_000542.5(SFTPB):c.1003-293T>G	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227924	NM_000542.5(SFTPB):c.1002+321G>T	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272295	NM_000542.5(SFTPB):c.1002+176A>G	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2612913	NM_000542.5(SFTPB):c.986G>C (p.Trp329Ser)	SFTPB (W329S)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3160962	NM_000542.5(SFTPB):c.940G>A (p.Glu314Lys)	SFTPB (E314K)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
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 1767634	NM_000542.5(SFTPB):c.927C>T (p.Ala309=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 1767413	NM_000542.5(SFTPB):c.920C>T (p.Thr307Ile)	SFTPB (T307I)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1767144	NM_000542.5(SFTPB):c.913G>A (p.Val305Met)	SFTPB (V305M)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1766887	NM_000542.5(SFTPB):c.904T>G (p.Cys302Gly)	SFTPB (C302G)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GLikely pathogenic
Select item 1766142	NM_000542.5(SFTPB):c.883C>T (p.Arg295Ter)	SFTPB (R295*)	Single nucleotide variant (nonsense)	Hereditary pulmonary alveolar proteinosis	GPathogenic
Select item 1418303	NM_000542.5(SFTPB):c.876G>A (p.Trp292Ter)	SFTPB (W292*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1307132	NM_000542.5(SFTPB):c.869G>A (p.Gly290Glu)	SFTPB (G290E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1765227	NM_000542.5(SFTPB):c.858G>A (p.Arg286=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 1765161	NM_000542.5(SFTPB):c.857-18del	SFTPB	Deletion (intron variant)	Hereditary pulmonary alveolar proteinosis +1 more	GBenign
Select item 1280983	NM_000542.5(SFTPB):c.856+34T>C	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
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 263205	NM_000542.5(SFTPB):c.856+16A>C	SFTPB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 191304	NM_000542.5(SFTPB):c.856+16del	SFTPB	Deletion (intron variant)	not specified	GLikely benign
Select item 337302	NM_000542.5(SFTPB):c.847G>A (p.Ala283Thr)	SFTPB (A283T)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1 +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 2525156	NM_000542.5(SFTPB):c.839A>G (p.Asp280Gly)	SFTPB (D280G)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1764477	NM_000542.5(SFTPB):c.836T>G (p.Met279Arg)	SFTPB (M279R)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
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 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 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 1763676	NM_000542.5(SFTPB):c.814C>T (p.Arg272Cys)	SFTPB (R272C)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1763605	NM_000542.5(SFTPB):c.813C>T (p.Cys271=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 2847800	NM_000542.5(SFTPB):c.782T>A (p.Leu261Gln)	SFTPB (L261Q)	Single nucleotide variant (missense variant)	not provided	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 3232043	NM_000542.5(SFTPB):c.774C>T (p.Leu258=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
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 1761551	NM_000542.5(SFTPB):c.763G>A (p.Val255Ile)	SFTPB (V255I)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1761177	NM_000542.5(SFTPB):c.754C>T (p.Arg252Cys)	SFTPB (R252C)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GPathogenic
Select item 165203	NM_000542.5(SFTPB):c.741G>A (p.Gln247=)	SFTPB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 2393182	NM_000542.5(SFTPB):c.709G>A (p.Val237Met)	SFTPB (V237M)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
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 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 977497	NM_000542.5(SFTPB):c.673-8C>T	SFTPB	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
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 1237717	NM_000542.5(SFTPB):c.673-294G>C	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2184043	NM_000542.5(SFTPB):c.611C>T (p.Pro204Leu)	SFTPB (P204L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2635063	NM_000542.5(SFTPB):c.592G>A (p.Glu198Lys)	SFTPB (E198K)	Single nucleotide variant (missense variant)	SFTPB-related disorder	GUncertain significance
Select item 725729	NM_000542.5(SFTPB):c.591C>T (p.Ser197=)	SFTPB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3232042	NM_000542.5(SFTPB):c.585T>C (p.Asp195=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 2629885	NM_000542.5(SFTPB):c.583-1G>T	SFTPB	Single nucleotide variant (splice acceptor variant)	SFTPB-related disorder	GLikely pathogenic
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 1897327	NM_000542.5(SFTPB):c.582+15dup	SFTPB	Duplication (intron variant)	not provided	GBenign
Select item 290887	NM_000542.5(SFTPB):c.582+6G>A	SFTPB	Single nucleotide variant (intron variant)	not provided	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 1752055	NM_000542.5(SFTPB):c.581del (p.Gln194fs)	SFTPB (Q194fs)	Deletion (frameshift variant)	Hereditary pulmonary alveolar proteinosis	GPathogenic
Select item 729110	NM_000542.5(SFTPB):c.576C>T (p.His192=)	SFTPB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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