ClinVar for Gene (Select 6439) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3232042	NM_000542.5(SFTPB):c.585T>C (p.Asp195=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 3232041	NM_000542.5(SFTPB):c.437G>A (p.Arg146Gln)	SFTPB (R146Q)	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 3160961	NM_000542.5(SFTPB):c.560C>A (p.Ala187Glu)	SFTPB (A187E)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3160960	NM_000542.5(SFTPB):c.188T>C (p.Val63Ala)	SFTPB (V63A)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 3160959	NM_000542.3(SFTPB):c.14G>A (p.Gly5Glu)	SFTPB (G5E)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
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 3064434	NM_000542.5(SFTPB):c.761_765dup (p.Ile256fs)	SFTPB (I256fs)	Duplication (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 3062403	GRCh37/hg19 2p11.2(chr2:85860694-85917890)x1	SFTPB, USP39	Copy number loss	not specified	GPathogenic
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 3022471	NM_000542.5(SFTPB):c.68-17C>T	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2982960	NM_000542.5(SFTPB):c.303C>T (p.Asn101=)	SFTPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960343	NM_000542.5(SFTPB):c.358T>C (p.Phe120Leu)	SFTPB (F120L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897901	NM_000542.5(SFTPB):c.195+1G>A	SFTPB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2734240	NM_000542.5(SFTPB):c.195+4A>G	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2722705	NM_000542.5(SFTPB):c.272C>A (p.Thr91Lys)	SFTPB (T91K)	Single nucleotide variant (missense variant)	not provided	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 2633519	NM_000542.5(SFTPB):c.268-2del	SFTPB	Deletion (splice acceptor variant)	SFTPB-related disorder	GLikely pathogenic
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 2627672	NM_000542.5(SFTPB):c.324dup (p.Met109fs)	SFTPB (M109fs)	Duplication (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely pathogenic
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 2530898	NM_000542.5(SFTPB):c.304G>A (p.Val102Ile)	SFTPB (V102I)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
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 2433325	NM_000542.5(SFTPB):c.479del (p.Leu160fs)	SFTPB (L160fs)	Deletion (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 1	GLikely pathogenic
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	POLR1A, ATOH8 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
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 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 2284082	NM_000542.5(SFTPB):c.490C>G (p.Leu164Val)	SFTPB (L164V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 2216614	NM_000542.5(SFTPB):c.133C>A (p.Gln45Lys)	SFTPB (Q45K)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
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 2177119	NM_000542.5(SFTPB):c.149G>T (p.Arg50Ile)	SFTPB (R50I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098731	NM_000542.5(SFTPB):c.285C>T (p.Phe95=)	SFTPB	Single nucleotide variant (synonymous 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 1971816	NM_000542.5(SFTPB):c.29TGC[6] (p.Leu14_Pro15insLeu)	SFTPB	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1957119	NM_000542.5(SFTPB):c.472G>C (p.Asp158His)	SFTPB (D158H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1897327	NM_000542.5(SFTPB):c.582+15dup	SFTPB	Duplication (intron variant)	not provided	GBenign
Select item 1810244	NM_000542.5(SFTPB):c.68-8A>G	SFTPB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1809304	GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	ATOH8, C2orf68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1795035	NM_000542.5(SFTPB):c.234C>A (p.Ile78=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 1794035	NM_000542.5(SFTPB):c.226G>A (p.Val76Ile)	SFTPB (V76I)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1788595	NM_000542.5(SFTPB):c.189G>A (p.Val63=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 1784736	NM_000542.5(SFTPB):c.166C>T (p.Leu56=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
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 1768255	NM_000542.5(SFTPB):c.61G>A (p.Gly21Ser)	SFTPB (G21S)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	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 1766829	NM_000542.5(SFTPB):c.57C>T (p.Gly19=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
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 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 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 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 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 1752055	NM_000542.5(SFTPB):c.581del (p.Gln194fs)	SFTPB (Q194fs)	Deletion (frameshift variant)	Hereditary pulmonary alveolar proteinosis	GPathogenic
Select item 1751612	NM_000542.5(SFTPB):c.24G>A (p.Gln8=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 1748021	NM_000542.5(SFTPB):c.514C>T (p.Leu172=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 1746757	NM_000542.5(SFTPB):c.494G>A (p.Arg165Gln)	SFTPB (R165Q)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 1745529	NM_000542.5(SFTPB):c.476C>G (p.Pro159Arg)	SFTPB (P159R)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1741706	NM_000542.5(SFTPB):c.422G>A (p.Gly141Asp)	SFTPB (G141D)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1741258	NM_000542.5(SFTPB):c.416A>T (p.His139Leu)	SFTPB (H139L)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1740618	NM_000542.5(SFTPB):c.407T>A (p.Ile136Asn)	SFTPB (I136N)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
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 1737529	NM_000542.5(SFTPB):c.370A>G (p.Ile124Val)	SFTPB (I124V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
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 1727574	NM_000542.5(SFTPB):c.273G>A (p.Thr91=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 1727440	NM_000542.5(SFTPB):c.272C>T (p.Thr91Met)	SFTPB (T91M)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GConflicting classifications of pathogenicity
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1706747	NM_000542.5(SFTPB):c.393+93A>G	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1691339	NM_000542.5(SFTPB):c.146G>A (p.Cys49Tyr)	SFTPB (C49Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1677400	NM_000542.5(SFTPB):c.13C>T (p.His5Tyr)	SFTPB (H5Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1608918	NM_000542.5(SFTPB):c.351C>T (p.Asp117=)	SFTPB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1418303	NM_000542.5(SFTPB):c.876G>A (p.Trp292Ter)	SFTPB (W292*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 1288504	NM_000542.5(SFTPB):c.393+96CA[12]	SFTPB	Microsatellite (intron variant)	not provided	GBenign
Select item 1286387	NM_000542.5(SFTPB):c.394-191G>A	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283441	NM_000542.5(SFTPB):c.393+212CA[8]	SFTPB	Microsatellite (intron variant)	not provided	GBenign
Select item 1280983	NM_000542.5(SFTPB):c.856+34T>C	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278792	NM_000542.5(SFTPB):c.195+233del	SFTPB	Deletion (intron variant)	not provided	GBenign
Select item 1276483	NM_198843.3(SFTPB):c.-69+210C>A	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274957	NM_000542.5(SFTPB):c.393+96CA[13]	SFTPB	Microsatellite (intron variant)	not provided	GBenign
Select item 1274899	NM_000542.5(SFTPB):c.393+244CA[8]	SFTPB	Microsatellite (intron variant)	not provided	GBenign
Select item 1273105	NM_000542.5(SFTPB):c.1003-293T>G	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 1271864	NM_198843.3(SFTPB):c.-69+93G>A	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256710	NM_000542.5(SFTPB):c.393+172CA[12]	SFTPB	Microsatellite (intron variant)	not provided	GBenign
Select item 1250980	NM_000542.5(SFTPB):c.393+96CA[15]	SFTPB	Microsatellite (intron variant)	not provided	GBenign
Select item 1244287	NM_000542.5(SFTPB):c.*19+284T>C	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237717	NM_000542.5(SFTPB):c.673-294G>C	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign

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