C0024117[trait identifier] AND "HLA Laboratory, Instituto Nacional de - ClinVar

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

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027619	NC_000004.12:g.88448181T>C	FAM13A	Single nucleotide variant	Chronic obstructive pulmonary disease	Gassociation
Select item 1162779	NM_014883.4(FAM13A):c.843+16335C>A	FAM13A	Single nucleotide variant (intron variant)	Combined pulmonary fibrosis-emphysema syndrome +2 more	GUncertain significance; association
Select item 1027618	NM_014883.4(FAM13A):c.606-24587G>A	FAM13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1027617	NM_014883.4(FAM13A):c.605+25827G>A	FAM13A	Single nucleotide variant (intron variant)	Chronic obstructive pulmonary disease	Gassociation
Select item 870129	NC_000004.12:g.144539078A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease +1 more	Gassociation
Select item 870131	NC_000004.12:g.144559628A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease, biomass related +1 more	Gassociation
Select item 870130	NC_000004.12:g.144565237A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease +1 more	Gassociation
Select item 375480	NM_198253.3(TERT):c.1574-3777G>T	TERT	Single nucleotide variant (intron variant)	Idiopathic Pulmonary Fibrosis +1 more	GBenign
Select item 672128	NM_004415.4(DSP):c.726+219T>G	DSP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 694520	NM_005527.4(HSPA1L):c.1478C>A (p.Thr493Lys)	HSPA1L (T493K)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	Gassociation
Select item 694515	NC_000006.12:g.31815431A>C	HSPA1A, LOC107063610	Single nucleotide variant	Chronic obstructive pulmonary disease	Gassociation
Select item 694516	NM_005345.6(HSPA1A):c.-27G>C	HSPA1A, LOC107063610	Single nucleotide variant (5 prime UTR variant)	Chronic obstructive pulmonary disease	Gassociation
Select item 694514	NM_005345.6(HSPA1A):c.330G>C (p.Glu110Asp)	HSPA1A (E110D)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	Gassociation
Select item 694517	NM_005345.6(HSPA1A):c.1053G>A (p.Gln351=)	HSPA1A	Single nucleotide variant (synonymous variant)	Chronic obstructive pulmonary disease	Gassociation
Select item 694519	NC_000006.12:g.31826815C>T	HSPA1B	Single nucleotide variant	Chronic obstructive pulmonary disease	Gassociation
Select item 694518	NM_005346.6(HSPA1B):c.-178C>T	HSPA1B	Single nucleotide variant (5 prime UTR variant)	Chronic obstructive pulmonary disease	Gassociation
Select item 1162781	NM_019009.4(TOLLIP):c.184-1067G>C	TOLLIP	Single nucleotide variant (intron variant)	Combined pulmonary fibrosis-emphysema syndrome +2 more	GUncertain significance; association
Select item 1162780	NM_019009.4(TOLLIP):c.33+4867A>G	TOLLIP	Single nucleotide variant (intron variant)	Chronic obstructive pulmonary disease +1 more	GUncertain significance
Select item 1027622	NC_000011.10:g.34758731G>A		Single nucleotide variant	Chronic obstructive pulmonary disease	Gassociation
Select item 1027620	NC_000011.10:g.34788896T>C		Single nucleotide variant	Chronic obstructive pulmonary disease	Gassociation
Select item 1027621	NM_003357.5(SCGB1A1):c.-26G>A	SCGB1A1	Single nucleotide variant (5 prime UTR variant)	Chronic obstructive pulmonary disease	Gassociation
Select item 17967	NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SERPINA1 (E366K)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease +7 more	GPathogenic; risk factor
Select item 17969	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SERPINA1 (E288V)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Pathogenic, low penetrance; other

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: 23