"Ambry Genetics"[submitter] AND "SFTPB"[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Surfactant metabolism dysfunction, pulmonary, 1 +1 more	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 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 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 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 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 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 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 263205	NM_000542.5(SFTPB):c.856+16A>C	SFTPB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 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 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 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 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 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)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 725729	NM_000542.5(SFTPB):c.591C>T (p.Ser197=)	SFTPB	Single nucleotide variant (synonymous variant)	SFTPB-related condition +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 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
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 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 337309	NM_000542.5(SFTPB):c.560C>T (p.Ala187Val)	SFTPB (A187V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 13201	NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs)	SFTPB (P121fs)	Indel (frameshift variant)	Surfactant metabolism dysfunction, pulmonary, 1 +2 more	GPathogenic
Select item 504739	NM_000542.5(SFTPB):c.357C>T (p.Tyr119=)	SFTPB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 619287	NM_000542.5(SFTPB):c.352G>A (p.Asp118Asn)	SFTPB (D118N)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1 +2 more	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 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 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 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)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 165206	NM_000542.5(SFTPB):c.196-8C>A	SFTPB	Single nucleotide variant (intron variant)	Hereditary pulmonary alveolar proteinosis +3 more	GBenign
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 1788595	NM_000542.5(SFTPB):c.189G>A (p.Val63=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
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 1784736	NM_000542.5(SFTPB):c.166C>T (p.Leu56=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
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 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 1766829	NM_000542.5(SFTPB):c.57C>T (p.Gly19=)	SFTPB	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
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 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 1751612	NM_000542.5(SFTPB):c.24G>A (p.Gln8=)	SFTPB	Single nucleotide variant (synonymous 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 337314	NM_000542.3(SFTPB):c.6C>T (p.His2=)	SFTPB	Single nucleotide variant (synonymous variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 165208	NM_000542.3(SFTPB):c.5A>C (p.His2Pro)	SFTPB	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis +3 more	GBenign

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Items: 88