"GeneDx"[submitter] AND "SFTPB"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1244287	NM_000542.5(SFTPB):c.*19+284T>C	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
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 1195689	NM_000542.5(SFTPB):c.1084-126C>G	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3340715	NM_000542.5(SFTPB):c.1029_1031dup (p.Pro344_Gln345insPro)	SFTPB	Duplication (inframe_insertion +1 more)	not provided	GLikely pathogenic
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 1307132	NM_000542.5(SFTPB):c.869G>A (p.Gly290Glu)	SFTPB (G290E)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GConflicting classifications of pathogenicity
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 specified +3 more	GBenign
Select item 165202	NM_000542.5(SFTPB):c.843C>T (p.Asp281=)	SFTPB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 337303	NM_000542.5(SFTPB):c.815G>A (p.Arg272His)	SFTPB (R272H)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1 +2 more	GBenign/Likely benign
Select item 13204	NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys)	SFTPB (R236C)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 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 227072	NM_000542.5(SFTPB):c.529G>A (p.Val177Ile)	SFTPB (V177I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1286387	NM_000542.5(SFTPB):c.394-191G>A	SFTPB	Single nucleotide variant (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 1283441	NM_000542.5(SFTPB):c.393+212CA[8]	SFTPB	Microsatellite (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 1200910	NM_000542.5(SFTPB):c.393+172CA[9]	SFTPB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1250980	NM_000542.5(SFTPB):c.393+96CA[15]	SFTPB	Microsatellite (intron variant)	not provided	GBenign
Select item 1288504	NM_000542.5(SFTPB):c.393+96CA[12]	SFTPB	Microsatellite (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 1706747	NM_000542.5(SFTPB):c.393+93A>G	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216997	NM_000542.5(SFTPB):c.393+89A>G	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165204	NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile)	SFTPB (T131I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 13201	NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs)	SFTPB (P121fs)	Indel (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 1 +2 more	GPathogenic
Select item 1186487	NM_000542.5(SFTPB):c.268-20G>C	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1205551	NM_000542.5(SFTPB):c.268-64T>A	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165206	NM_000542.5(SFTPB):c.196-8C>A	SFTPB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1215187	NM_000542.5(SFTPB):c.196-240GGATG[5]	SFTPB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1278792	NM_000542.5(SFTPB):c.195+233del	SFTPB	Deletion (intron variant)	not provided	GBenign
Select item 1177841	NM_000542.5(SFTPB):c.195+81G>A	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194411	NM_000542.5(SFTPB):c.67+155C>T	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165207	NM_000542.5(SFTPB):c.48G>A (p.Thr16=)	SFTPB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 165208	NM_198843.3(SFTPB):c.-32A>C	SFTPB	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1276483	NM_198843.3(SFTPB):c.-69+210C>A	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202564	NM_198843.3(SFTPB):c.-69+102G>A	SFTPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271864	NM_198843.3(SFTPB):c.-69+93G>A	SFTPB	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40