"Color Diagnostics, LLC DBA Color Health"[submitter] AND "COL3A1"[gene - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 806

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 919058	NM_000090.4(COL3A1):c.-10A>G	COL3A1	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 439514	NM_000090.4(COL3A1):c.13G>A (p.Val5Met)	COL3A1 (V5M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 926616	NM_000090.4(COL3A1):c.39C>T (p.Leu13=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 922789	NM_000090.4(COL3A1):c.40G>T (p.Ala14Ser)	COL3A1 (A14S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 919615	NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr)	COL3A1 (A14T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 920739	NM_000090.4(COL3A1):c.41C>G (p.Ala14Gly)	COL3A1 (A14G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 925243	NM_000090.4(COL3A1):c.50A>T (p.His17Leu)	COL3A1 (H17L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 1995461	NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)	COL3A1 (T19S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 640237	NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala)	COL3A1 (T19A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 918653	NM_000090.4(COL3A1):c.58A>G (p.Ile20Val)	COL3A1 (I20V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 925342	NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg)	COL3A1 (Q25R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 918852	NM_000090.4(COL3A1):c.80-13del	COL3A1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 333046	NM_000090.4(COL3A1):c.80-13A>C	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 752300	NM_000090.4(COL3A1):c.80-8T>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 923483	NM_000090.4(COL3A1):c.80C>A (p.Ala27Asp)	COL3A1 (A27D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 699870	NM_000090.4(COL3A1):c.84T>C (p.Val28=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 628748	NM_000090.4(COL3A1):c.86_88del (p.Glu29del)	COL3A1 (E29del)	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 918785	NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp)	COL3A1 (E29D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 529327	NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg)	COL3A1 (G31R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GConflicting classifications of pathogenicity
Select item 1171255	NM_000090.4(COL3A1):c.96T>C (p.Cys32=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 199751	NM_000090.4(COL3A1):c.101A>G (p.His34Arg)	COL3A1 (H34R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 199689	NM_000090.4(COL3A1):c.114C>G (p.Ser38=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 924898	NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr)	COL3A1 (A40T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 925735	NM_000090.4(COL3A1):c.119C>G (p.Ala40Gly)	COL3A1 (A40G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 199690	NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)	COL3A1 (A40V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 628509	NM_000090.4(COL3A1):c.120G>A (p.Ala40=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 264258	NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn)	COL3A1 (D41N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 199691	NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)	COL3A1 (D41Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 385534	NM_000090.4(COL3A1):c.123T>C (p.Asp41=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GLikely benign
Select item 199707	NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)	COL3A1 (V44I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GLikely benign
Select item 404291	NM_000090.4(COL3A1):c.178G>A (p.Val60Ile)	COL3A1 (V60I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 459770	NM_000090.4(COL3A1):c.186C>T (p.Cys62=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 954889	NM_000090.4(COL3A1):c.193A>G (p.Ile65Val)	COL3A1 (I65V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 928100	NM_000090.4(COL3A1):c.194T>C (p.Ile65Thr)	COL3A1 (I65T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1172270	NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu)	COL3A1 (I66L)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 263619	NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)	COL3A1 (I66M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 199708	NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)	COL3A1 (D68G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 928231	NM_000090.4(COL3A1):c.204C>A (p.Asp68Glu)	COL3A1 (D68E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 412902	NM_000090.4(COL3A1):c.204C>T (p.Asp68=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 1512542	NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn)	COL3A1 (D69N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 926838	NM_000090.4(COL3A1):c.205G>T (p.Asp69Tyr)	COL3A1 (D69Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1171764	NM_000090.4(COL3A1):c.209A>G (p.Gln70Arg)	COL3A1 (Q70R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 926434	NM_000090.4(COL3A1):c.216A>G (p.Leu72=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 263844	NM_000090.4(COL3A1):c.217G>C (p.Asp73His)	COL3A1 (D73H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 254961	NM_000090.4(COL3A1):c.219C>T (p.Asp73=)	COL3A1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 925675	NM_000090.4(COL3A1):c.222C>T (p.Cys74=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 519601	NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)	COL3A1 (N76D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 920607	NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser)	COL3A1 (P77S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 924477	NM_000090.4(COL3A1):c.235A>G (p.Ile79Val)	COL3A1 (I79V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 658009	NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser)	COL3A1 (F81S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 263835	NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)	COL3A1 (P89L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 529312	NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu)	COL3A1 (P91L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 928328	NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser)	COL3A1 (A94S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 919552	NM_000090.4(COL3A1):c.283C>A (p.Pro95Thr)	COL3A1 (P95T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 333047	NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu)	COL3A1 (P95L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 697136	NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)	COL3A1 (R97C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 628670	NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu)	COL3A1 (R97L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 529314	NM_000090.4(COL3A1):c.290G>A (p.Arg97His)	COL3A1 (R97H)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 1085082	NM_000090.4(COL3A1):c.300T>C (p.Asn100=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 925673	NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys)	COL3A1 (N100K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 921016	NM_000090.4(COL3A1):c.300T>A (p.Asn100Lys)	COL3A1 (N100K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2147619	NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)	COL3A1 (G101D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 922230	NM_000090.4(COL3A1):c.305A>T (p.Gln102Leu)	COL3A1 (Q102L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 404286	NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser)	COL3A1 (G106S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 629606	NM_000090.4(COL3A1):c.320C>G (p.Pro107Arg)	COL3A1 (P107R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 382806	NM_000090.4(COL3A1):c.334-13A>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +2 more	GLikely benign
Select item 854169	NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)	COL3A1 (I116S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 2775083	NM_000090.4(COL3A1):c.348T>C (p.Ile116=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1332504	NM_000090.4(COL3A1):c.369T>A (p.Pro123=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 920023	NM_000090.4(COL3A1):c.393C>T (p.Ser131=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 1332206	NM_000090.4(COL3A1):c.402T>G (p.Ser134=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 794776	NM_000090.4(COL3A1):c.405T>C (p.Pro135=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 2775084	NM_000090.4(COL3A1):c.416G>C (p.Gly139Ala)	COL3A1 (G139A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 618033	NM_000090.4(COL3A1):c.419T>C (p.Ile140Thr)	COL3A1 (I140T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 918641	NM_000090.4(COL3A1):c.429A>T (p.Ser143=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 925052	NM_000090.4(COL3A1):c.431G>A (p.Cys144Tyr)	COL3A1 (C144Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 333049	NM_000090.4(COL3A1):c.432C>T (p.Cys144=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2775085	NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)	COL3A1 (Q149L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 577235	NM_000090.4(COL3A1):c.464A>G (p.Tyr155Cys)	COL3A1 (Y155C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 449237	NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)	COL3A1 (Y158N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 919636	NM_000090.4(COL3A1):c.474T>C (p.Tyr158=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2775086	NM_000090.4(COL3A1):c.493G>C (p.Ala165Pro)	COL3A1 (A165P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2775087	NM_000090.4(COL3A1):c.494C>T (p.Ala165Val)	COL3A1 (A165V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 928201	NM_000090.4(COL3A1):c.497T>A (p.Val166Glu)	COL3A1 (V166E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 923647	NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del)	COL3A1 (G168del)	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 161216	NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)	COL3A1 (L169F)	Single nucleotide variant (missense variant)	Aortic aneurysm +5 more	GConflicting classifications of pathogenicity
Select item 1171732	NM_000090.4(COL3A1):c.507C>T (p.Leu169=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 919453	NM_000090.4(COL3A1):c.507C>G (p.Leu169=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 263818	NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr)	COL3A1 (A170T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 263946	NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser)	COL3A1 (Y172S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 2775088	NM_000090.4(COL3A1):c.522A>T (p.Gly174=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 924125	NM_000090.4(COL3A1):c.528+4C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +1 more	GConflicting classifications of pathogenicity
Select item 2171066	NM_000090.4(COL3A1):c.529-8C>T	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 925322	NM_000090.4(COL3A1):c.529-4C>G	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 926406	NM_000090.4(COL3A1):c.531C>T (p.Gly177=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 1332391	NM_000090.4(COL3A1):c.537A>G (p.Pro179=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 2775089	NM_000090.4(COL3A1):c.540C>A (p.Gly180=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1171275	NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu)	COL3A1 (P181L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 581891	NM_000090.4(COL3A1):c.546C>A (p.Pro182=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 380408	NM_000090.4(COL3A1):c.546C>T (p.Pro182=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +3 more	GLikely benign

<< First< Prev

Page of 9