Related gene-specific medical variations for Gene (Select 1281) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3074518	NM_000090.4(COL3A1):c.2392-5T>A	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072865	NM_000090.4(COL3A1):c.2392-4T>A	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072582	NM_000090.4(COL3A1):c.2434C>T (p.Pro812Ser)	COL3A1, LOC126806446 (P812S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072419	NM_000090.4(COL3A1):c.2415T>G (p.Pro805=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3072385	NM_000090.4(COL3A1):c.2381G>T (p.Arg794Leu)	COL3A1, LOC126806446 (R794L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3070533	NM_000090.4(COL3A1):c.2373T>G (p.Ala791=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3070298	NM_000090.4(COL3A1):c.1510-14C>A	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3069304	NM_000090.4(COL3A1):c.2441C>T (p.Ala814Val)	LOC126806446, COL3A1 (A814V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2904676	NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser)	COL3A1, LOC126806446 (P806S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2829389	NM_000090.4(COL3A1):c.2391+18T>C	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 2823485	NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs)	COL3A1, LOC126806446 (R800fs)	Microsatellite (frameshift variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2822583	NM_000090.4(COL3A1):c.2419G>A (p.Gly807Arg)	COL3A1, LOC126806446 (G807R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2818085	NM_000090.4(COL3A1):c.2445+15_2445+18del	COL3A1, LOC126806446	Deletion (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 2805195	NM_000090.4(COL3A1):c.2384G>A (p.Gly795Asp)	COL3A1, LOC126806446 (G795D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2775124	NM_000090.4(COL3A1):c.2387G>T (p.Ser796Ile)	COL3A1, LOC126806446 (S796I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2775123	NM_000090.4(COL3A1):c.2372C>T (p.Ala791Val)	COL3A1, LOC126806446 (A791V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2775122	NM_000090.4(COL3A1):c.2344G>A (p.Gly782Ser)	COL3A1, LOC126806446 (G782S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2772108	NM_000090.4(COL3A1):c.2391+12del	COL3A1, LOC126806446	Deletion (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 2717255	NM_000090.4(COL3A1):c.2438G>T (p.Gly813Val)	COL3A1, LOC126806446 (G813V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2710710	NM_000090.4(COL3A1):c.2403T>C (p.Gly801=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 2709195	NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)	COL3A1, LOC126806446 (A784T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2706856	NM_000090.4(COL3A1):c.2388C>G (p.Ser796Arg)	COL3A1, LOC126806446 (S796R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2702718	NM_000090.4(COL3A1):c.2396A>T (p.Glu799Val)	COL3A1, LOC126806446 (E799V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2702717	NM_000090.4(COL3A1):c.2359C>A (p.Leu787Ile)	COL3A1, LOC126806446 (L787I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2697295	NM_000090.4(COL3A1):c.1510-12T>C	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 2688823	NM_000090.4(COL3A1):c.4180G>C (p.Gly1394Arg)	COL3A1 (G1394R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671944	NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu)	COL3A1 (P1163L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2627033	NM_000090.4(COL3A1):c.4023C>T (p.Gly1341=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2576150	NM_000090.4(COL3A1):c.2607+1G>T	COL3A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2576110	NM_000090.4(COL3A1):c.1923+1G>T	COL3A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2502249	NM_000090.4(COL3A1):c.396del (p.Gly133fs)	COL3A1 (G133fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2497737	NM_000090.4(COL3A1):c.3379C>T (p.Gln1127Ter)	COL3A1 (Q1127*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2440294	NM_000090.4(COL3A1):c.245G>A (p.Gly82Glu)	COL3A1 (G82E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440291	NM_000090.4(COL3A1):c.1940G>A (p.Gly647Asp)	COL3A1 (G647D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185925	NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser)	COL3A1, LOC126806446 (P797S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2185016	NM_000090.4(COL3A1):c.2445+14T>G	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 2073403	NM_000090.4(COL3A1):c.2391+16A>G	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 1961686	NM_000090.4(COL3A1):c.1510-10C>T	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1709828	NM_000090.4(COL3A1):c.2381G>C (p.Arg794Pro)	COL3A1, LOC126806446 (R794P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 1679507	NM_000090.4(COL3A1):c.1566A>G (p.Gly522=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616192	NM_000090.4(COL3A1):c.2392-16A>C	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 1593165	NM_000090.4(COL3A1):c.1510-17T>C	COL3A1, MIR3606	Single nucleotide variant (intron variant +1 more)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 1515058	NM_000090.4(COL3A1):c.2393G>A (p.Gly798Asp)	COL3A1, LOC126806446 (G798D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1425252	NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr)	LOC126806446, COL3A1 (I790T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 1331024	NM_000090.4(COL3A1):c.3124G>A (p.Ala1042Thr)	COL3A1 (A1042T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329348	NM_000090.4:c.-46_4368del	COL3A1	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1324109	NM_000090.4(COL3A1):c.2617G>T (p.Gly873Cys)	COL3A1 (G873C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1319568	NM_000090.4(COL3A1):c.4134C>G (p.Tyr1378Ter)	COL3A1 (Y1378*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1302973	NM_000090.4(COL3A1):c.2345G>C (p.Gly782Ala)	LOC126806446, COL3A1 (G782A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1240543	NM_000090.4(COL3A1):c.2445+234T>C	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220228	NM_000090.4(COL3A1):c.2391+130A>G	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184584	NM_000090.4(COL3A1):c.4323_4326del (p.Ile1441fs)	COL3A1 (I1441fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1171815	NM_000090.4(COL3A1):c.2391T>C (p.Pro797=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1171768	NM_000090.4(COL3A1):c.2371G>T (p.Ala791Ser)	COL3A1, LOC126806446 (A791S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1170977	NM_000090.4(COL3A1):c.2355C>A (p.Pro785=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1119668	NM_000090.4(COL3A1):c.1510-4T>C	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 1102214	NM_000090.4(COL3A1):c.2397G>A (p.Glu799=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 1094115	NM_000090.4(COL3A1):c.2418A>G (p.Pro806=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 994416	NM_000090.4(COL3A1):c.636+5_636+8del	COL3A1	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 931500	NM_000090.4(COL3A1):c.509C>T (p.Ala170Val)	COL3A1 (A170V)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	GUncertain significance
Select item 930386	NM_000090.4(COL3A1):c.1465G>T (p.Gly489Trp)	COL3A1 (G489W)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	GLikely pathogenic
Select item 930266	NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val)	COL3A1, LOC126806446 (A784V)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 928602	NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser)	COL3A1, LOC126806446 (P788S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 927876	NM_000090.4(COL3A1):c.2414C>G (p.Pro805Arg)	COL3A1, LOC126806446 (P805R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 925325	NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr)	COL3A1, LOC126806446 (A814T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 924803	NM_000090.4(COL3A1):c.2392-8C>A	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 924591	NM_000090.4(COL3A1):c.2409T>C (p.Thr803=)	LOC126806446, COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 923887	NM_000090.4(COL3A1):c.2373T>C (p.Ala791=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 922550	NM_000090.4(COL3A1):c.2433C>T (p.Phe811=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 922248	NM_000090.4(COL3A1):c.2424T>C (p.Pro808=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 921877	NM_000090.4(COL3A1):c.2338-7T>C	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 920320	NM_000090.4(COL3A1):c.2353C>T (p.Pro785Ser)	COL3A1, LOC126806446 (P785S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 809117	NM_000090.4(COL3A1):c.3093+3A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 698263	NM_000090.4(COL3A1):c.2358A>G (p.Gly786=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 678509	NM_000090.4(COL3A1):c.2392-232A>G	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675249	NM_000090.4(COL3A1):c.2445+162C>T	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674274	NM_000090.4(COL3A1):c.2445+128G>A	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673375	NM_000090.4(COL3A1):c.2445+67A>G	COL3A1, LOC126806446	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 652701	NM_000090.4(COL3A1):c.2351C>A (p.Ala784Asp)	COL3A1, LOC126806446 (A784D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 636888	NM_000090.4(COL3A1):c.1509G>A (p.Lys503=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 636783	NM_000090.4(COL3A1):c.2536G>A (p.Gly846Arg)	COL3A1 (G846R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 636664	NM_000090.4(COL3A1):c.2445+19A>G	LOC126806446, COL3A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 636538	NM_000090.4(COL3A1):c.1977+5G>A	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 636390	NM_000090.4(COL3A1):c.3824-8C>T	COL3A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 636379	NM_000090.4(COL3A1):c.879T>A (p.Asn293Lys)	COL3A1 (N293K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618577	NM_000090.4(COL3A1):c.2713C>T (p.Pro905Ser)	COL3A1 (P905S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618031	NM_000090.4(COL3A1):c.2102del (p.Pro701fs)	COL3A1 (P701fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 618030	NM_000090.4(COL3A1):c.2096G>T (p.Gly699Val)	COL3A1 (G699V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 580085	NM_000090.4(COL3A1):c.2392-3_2395del	LOC126806446, COL3A1	Deletion (splice acceptor variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 519612	NM_000090.4(COL3A1):c.2355C>T (p.Pro785=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 519600	NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +3 more	GBenign/Likely benign
Select item 519598	NM_000090.4(COL3A1):c.2392-2A>C	COL3A1, LOC126806446	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 511520	NM_000090.4(COL3A1):c.2436T>C (p.Pro812=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 495540	NM_000090.4(COL3A1):c.1510-8C>A	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 459774	NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys)	COL3A1, LOC126806446 (R800K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 432085	NM_000090.4(COL3A1):c.2381G>A (p.Arg794His)	COL3A1, LOC126806446 (R794H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381012	NM_000090.4(COL3A1):c.1510-18A>G	COL3A1, MIR3606	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 377718	NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 333059	NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 263931	NM_000090.4(COL3A1):c.2394T>C (p.Gly798=)	COL3A1, LOC126806446	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign

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