SFTPA1[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 203407	GRCh38/hg38 10q22.3(chr10:79491821-79798351)x3	EIF5AL1, LINC02679 +5 more	Copy number gain	See cases	GBenign
Select item 3053251	NM_005411.5(SFTPA1):c.-23-157T>A	SFTPA1	Single nucleotide variant (intron variant)	SFTPA1-related disorder	GLikely benign
Select item 3053677	NM_005411.5(SFTPA1):c.-23-156G>A	SFTPA1	Single nucleotide variant (intron variant)	SFTPA1-related disorder	GLikely benign
Select item 3048596	NM_005411.5(SFTPA1):c.-23-153G>A	SFTPA1	Single nucleotide variant (intron variant)	SFTPA1-related disorder	GLikely benign
Select item 1260769	NM_005411.5(SFTPA1):c.-23-138A>T	SFTPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3355976	NM_005411.5(SFTPA1):c.-23-5T>A	SFTPA1	Single nucleotide variant (intron variant)	SFTPA1-related disorder	GBenign
Select item 3350749	NM_005411.5(SFTPA1):c.-23-5T>G	SFTPA1	Single nucleotide variant (intron variant)	SFTPA1-related disorder	GBenign
Select item 3054609	NM_005411.5(SFTPA1):c.18G>T (p.Leu6=)	SFTPA1	Single nucleotide variant (synonymous variant)	SFTPA1-related disorder	GLikely benign
Select item 227944	NM_005411.5(SFTPA1):c.26A>C (p.Asn9Thr)	SFTPA1 (N24T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 227942	NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala)	SFTPA1 (V19A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3030634	NM_005411.5(SFTPA1):c.72C>T (p.Asp24=)	SFTPA1	Single nucleotide variant (synonymous variant)	SFTPA1-related disorder	GLikely benign
Select item 2605818	NM_005411.5(SFTPA1):c.74T>A (p.Val25Asp)	SFTPA1 (V40D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 373663	NM_005411.5(SFTPA1):c.91G>C (p.Gly31Arg)	SFTPA1 (G31R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 744040	NM_005411.5(SFTPA1):c.99C>T (p.Pro33=)	SFTPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 227061	NM_005411.5(SFTPA1):c.117C>T (p.His39=)	SFTPA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3030714	NM_005411.5(SFTPA1):c.120C>A (p.Gly40=)	SFTPA1	Single nucleotide variant (synonymous variant +1 more)	SFTPA1-related disorder	GLikely benign
Select item 3043686	NM_005411.5(SFTPA1):c.123G>A (p.Leu41=)	SFTPA1	Single nucleotide variant (synonymous variant +1 more)	SFTPA1-related disorder	GLikely benign
Select item 3055008	NM_005411.5(SFTPA1):c.135C>T (p.Asp45=)	SFTPA1	Single nucleotide variant (synonymous variant +1 more)	SFTPA1-related disorder	GLikely benign
Select item 229244	NM_005411.5(SFTPA1):c.135C>G (p.Asp45Glu)	SFTPA1 (D45E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 227062	NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val)	SFTPA1 (L50V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 786416	NM_005411.5(SFTPA1):c.185C>T (p.Pro62Leu)	SFTPA1 (P62L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 165197	NM_005411.5(SFTPA1):c.186A>G (p.Pro62=)	SFTPA1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2337220	NM_005411.5(SFTPA1):c.226C>T (p.Pro76Ser)	SFTPA1 (P76S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317883	NM_005411.5(SFTPA1):c.252G>C (p.Glu84Asp)	SFTPA1 (E35D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317881	NM_005411.5(SFTPA1):c.264G>T (p.Lys88Asn)	SFTPA1 (K88N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165198	NM_005411.5(SFTPA1):c.271C>G (p.Pro91Ala)	SFTPA1 (P106A +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2460460	NM_005411.5(SFTPA1):c.277G>A (p.Glu93Lys)	SFTPA1 (E108K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691337	NM_005411.5(SFTPA1):c.292G>A (p.Gly98Arg)	SFTPA1 (G113R +3 more)	Single nucleotide variant (missense variant)	Proximal 16p11.2 microdeletion syndrome	GUncertain significance
Select item 1270909	NM_005411.5(SFTPA1):c.292+45del	SFTPA1	Deletion (intron variant)	not provided	GBenign
Select item 1235406	NM_005411.5(SFTPA1):c.292+258T>C	SFTPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274823	NM_005411.5(SFTPA1):c.292+315T>A	SFTPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1679573	Single allele	LOC130004183, LOC130004184 +19 more	Deletion	not provided	GUncertain significance
Select item 1249823	NM_005411.5(SFTPA1):c.293-284_293-282del	SFTPA1	Deletion (intron variant)	not provided	GBenign
Select item 1241505	NM_005411.5(SFTPA1):c.293-258A>G	SFTPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282254	NM_005411.5(SFTPA1):c.293-237G>A	SFTPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239503	NM_005411.5(SFTPA1):c.293-233G>T	SFTPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3160948	NM_005411.5(SFTPA1):c.337G>A (p.Asp113Asn)	SFTPA1 (D113N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227063	NM_005411.5(SFTPA1):c.342T>C (p.Phe114=)	SFTPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2552952	NM_005411.5(SFTPA1):c.344G>T (p.Arg115Ile)	SFTPA1 (R130I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282478	NM_005411.5(SFTPA1):c.370+160G>C	SFTPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3030727	NM_005411.5(SFTPA1):c.371-6T>C	SFTPA1	Single nucleotide variant (intron variant)	SFTPA1-related disorder	GLikely benign
Select item 2368789	NM_005411.5(SFTPA1):c.398C>T (p.Thr133Ile)	SFTPA1 (T84I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165199	NM_005411.5(SFTPA1):c.399A>G (p.Thr133=)	SFTPA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 770965	NM_005411.5(SFTPA1):c.420C>T (p.Ser140=)	SFTPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2349806	NM_005411.5(SFTPA1):c.440C>G (p.Thr147Ser)	SFTPA1 (T98S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057783	NM_005411.5(SFTPA1):c.456G>A (p.Gln152=)	SFTPA1	Single nucleotide variant (synonymous variant)	SFTPA1-related disorder	GLikely benign
Select item 3046380	NM_005411.5(SFTPA1):c.477C>T (p.Gly159=)	SFTPA1	Single nucleotide variant (synonymous variant)	SFTPA1-related disorder	GLikely benign
Select item 3029769	NM_005411.5(SFTPA1):c.477C>A (p.Gly159=)	SFTPA1	Single nucleotide variant (synonymous variant)	SFTPA1-related disorder	GLikely benign
Select item 2344111	NM_005411.5(SFTPA1):c.482G>A (p.Arg161His)	SFTPA1 (R161H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 742536	NM_005411.5(SFTPA1):c.498G>A (p.Arg166=)	SFTPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548656	NM_005411.5(SFTPA1):c.520A>G (p.Ile174Val)	SFTPA1 (I140V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1325403	NM_005411.5(SFTPA1):c.532G>A (p.Val178Met)	SFTPA1 (V178M +3 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 1	GPathogenic
Select item 2396751	NM_005411.5(SFTPA1):c.542A>T (p.Tyr181Phe)	SFTPA1 (Y132F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165200	NM_005411.5(SFTPA1):c.552T>C (p.Tyr184=)	SFTPA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 165201	NM_005411.5(SFTPA1):c.577C>T (p.Pro193Ser)	SFTPA1 (P193S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160950	NM_005411.4(SFTPA1):c.595C>T	SFTPA1 (R199C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317880	NM_005411.5(SFTPA1):c.604G>C (p.Asp202His)	SFTPA1 (D202H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227064	NM_005411.5(SFTPA1):c.606C>T (p.Asp202=)	SFTPA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2267824	NM_005411.5(SFTPA1):c.621C>G (p.Asn207Lys)	SFTPA1 (N222K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1325404	NM_005411.5(SFTPA1):c.622T>C (p.Tyr208His)	SFTPA1 (Y208H +3 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 1	GPathogenic
Select item 517626	NM_005411.5(SFTPA1):c.626C>A (p.Thr209Asn)	SFTPA1 (T209N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031129	NM_005411.5(SFTPA1):c.630C>T (p.Asn210=)	SFTPA1	Single nucleotide variant (synonymous variant)	SFTPA1-related disorder	GLikely benign
Select item 227943	NM_005411.5(SFTPA1):c.630C>G (p.Asn210Lys)	SFTPA1 (N210K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1322016	NM_005411.5(SFTPA1):c.631T>C (p.Trp211Arg)	SFTPA1 (W211R +3 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 1	GPathogenic
Select item 1705350	NM_005411.5(SFTPA1):c.633G>T (p.Trp211Cys)	SFTPA1 (W162C +3 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 1	GUncertain significance
Select item 1685096	NM_005411.5(SFTPA1):c.637C>T (p.Arg213Ter)	SFTPA1 (R164* +3 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 229245	NM_005411.5(SFTPA1):c.646C>G (p.Pro216Ala)	SFTPA1 (P216A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722848	NM_005411.5(SFTPA1):c.648C>T (p.Pro216=)	SFTPA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 229247	NM_005411.5(SFTPA1):c.649G>A (p.Ala217Thr)	SFTPA1 (A217T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 13206	NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp)	SFTPA1 (R219W +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1705901	NM_005411.5(SFTPA1):c.656G>T (p.Arg219Leu)	SFTPA1 (R170L +3 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 3317882	NM_005411.5(SFTPA1):c.665A>G (p.Glu222Gly)	SFTPA1 (E237G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162029	NM_005411.5(SFTPA1):c.667C>A (p.Gln223Lys)	SFTPA1 (Q238K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1322018	NM_005411.5(SFTPA1):c.673G>A (p.Val225Met)	SFTPA1 (V225M +3 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 1	GPathogenic
Select item 229246	NM_005411.5(SFTPA1):c.677A>G (p.Glu226Gly)	SFTPA1 (E226G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160951	NM_005411.5(SFTPA1):c.689A>C (p.Asp230Ala)	SFTPA1 (D196A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517516	NM_005411.5(SFTPA1):c.724C>T (p.Arg242Ter)	SFTPA1 (R242* +3 more)	Single nucleotide variant (nonsense)	Respiratory distress associated with prematurity +2 more	GUncertain significance
Select item 936075	NM_005411.5(SFTPA1):c.725G>A (p.Arg242Gln)	SFTPA1 (R193Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246564	NM_005411.5(SFTPA1):c.*213T>C	SFTPA1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1262946	NM_005411.5(SFTPA1):c.*214C>A	SFTPA1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1238441	NM_005411.5(SFTPA1):c.*249C>A	SFTPA1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2685382	GRCh37/hg19 10q22.3(chr10:81289036-81872800)x1	NUTM2B, SFTPA1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527595	GRCh37/hg19 10q22.3(chr10:81297993-81422572)	SFTPA1, SFTPA2	Copy number loss	not specified	GUncertain significance
Select item 1340854	GRCh37/hg19 10q22.3(chr10:81013486-81409192)x3	EIF5AL1, PPIF +4 more	Copy number gain	not provided	GUncertain significance
Select item 979273	GRCh37/hg19 10q22.3-23.1(chr10:81028088-82059110)x3	NUTM2B, ANXA11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687226	GRCh37/hg19 10q22.3(chr10:81297993-81422572)x1	SFTPA1, SFTPA2	Copy number loss	not provided	GUncertain significance
Select item 686479	GRCh37/hg19 10q22.3(chr10:81297994-81422268)x1	SFTPA1, SFTPA2	Copy number loss	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563786	GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3	MAT1A, DYDC1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 97