ClinVar for MedGen (Select 9818) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336651	NM_000750.5(CHRNB4):c.1411G>C (p.Val471Leu)	CHRNB4 (V471L)	Single nucleotide variant (missense variant +1 more)	Chronic obstructive pulmonary disease	GPathogenic
Select item 3336650	NC_000012.12:g.47906043T>C	VDR	Single nucleotide variant	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336649	NM_000583.4(GC):c.1327_1328insT (p.Asn443fs)	GC (N443fs +1 more)	Insertion (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336648	NM_000583.4(GC):c.1324dup (p.Val442fs)	GC (V442fs +1 more)	Duplication (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336647	NM_000583.4(GC):c.1330A>T (p.Lys444Ter)	GC (K444* +1 more)	Single nucleotide variant (nonsense)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336646	NM_000583.4(GC):c.1364T>C (p.Ile455Thr)	GC (I455T +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336645	NM_000583.4(GC):c.1375_1376insG (p.Pro459fs)	GC (P459fs +1 more)	Insertion (frameshift variant)	Chronic obstructive pulmonary disease	GUncertain significance
Select item 3336644	NM_000583.4(GC):c.1349C>G (p.Ser450Cys)	GC (S450C +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336643	NM_000583.4(GC):c.1328del (p.Asn443fs)	GC (N443fs +1 more)	Deletion (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336642	NM_000583.4(GC):c.1322_1323insTG (p.Val442fs)	GC (V442fs +1 more)	Insertion (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336641	NM_000583.4(GC):c.1368C>A (p.Asn456Lys)	GC (N456K +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336640	NM_001013619.4(HYKK):c.337+256T>C	HYKK	Single nucleotide variant (intron variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3242552	NM_000583.4(GC):c.1366A>T (p.Asn456Tyr)	GC (N456Y +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GPathogenic
Select item 1318566	NM_002133.3(HMOX1):c.287G>A (p.Trp96Ter)	HMOX1 (W96*)	Single nucleotide variant (nonsense)	Chronic obstructive pulmonary disease +2 more	GConflicting classifications of pathogenicity
Select item 1162781	NM_019009.4(TOLLIP):c.184-1067G>C	TOLLIP	Single nucleotide variant (intron variant)	Susceptibility to severe coronavirus disease (COVID-19) +3 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 1162779	NM_014883.4(FAM13A):c.843+16335C>A	FAM13A	Single nucleotide variant (intron variant)	Combined pulmonary fibrosis-emphysema syndrome +3 more	GUncertain significance; association
Select item 1027622	NC_000011.10:g.34758731G>A		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 1027620	NC_000011.10:g.34788896T>C		Single nucleotide variant	Chronic obstructive pulmonary disease	Gassociation
Select item 1027619	NC_000004.12:g.88448181T>C	FAM13A	Single nucleotide variant	Chronic obstructive pulmonary disease	Gassociation
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 870131	NC_000004.12:g.144559628A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease +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 870129	NC_000004.12:g.144539078A>G	HHIP	Single nucleotide variant	Chronic obstructive pulmonary disease, biomass related +1 more	Gassociation
Select item 732690	NM_000583.4(GC):c.1333C>T (p.His445Tyr)	GC (H445Y +1 more)	Single nucleotide variant (missense 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 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 694517	NM_005345.6(HSPA1A):c.1053G>A (p.Gln351=)	HSPA1A	Single nucleotide variant (synonymous 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 694515	NC_000006.12:g.31815431A>C	HSPA1A, LOC107063610	Single nucleotide 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 672128	NM_004415.4(DSP):c.726+219T>G	DSP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 626305	NM_000295.4(SERPINA1):c.[1158dupC;863A>T]	SERPINA1 (E288V +1 more)	Single nucleotide variant (missense variant +1 more)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 626304	NM_000295.4(SERPINA1):c.[1096G>A;35T>C]	SERPINA1 (E366K +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 440501	NC_000014.9:g.[94380925T>A;94383048G>T]	SERPINA1 (E288V +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 440500	NC_000014.9:g.[94380925T>A;94382636T>C]	SERPINA1 (E288V +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 410674	NM_198253.3(TERT):c.1931C>T (p.Thr644Met)	TERT (T644M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +13 more	GConflicting classifications of pathogenicity
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 17969	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SERPINA1 (E288V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Pathogenic, low penetrance; other
Select item 17967	NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SERPINA1 (E366K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity; risk factor

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Items: 43