"Ambry Genetics"[submitter] AND "COL3A1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 425

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1768913	NM_000090.4(COL3A1):c.9C>A (p.Ser3Arg)	COL3A1 (S3R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 263853	NM_000090.4(COL3A1):c.52C>T (p.Pro18Ser)	COL3A1 (P18S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1760675	NM_000090.4(COL3A1):c.77A>G (p.Glu26Gly)	COL3A1 (E26G)	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 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 199689	NM_000090.4(COL3A1):c.114C>G (p.Ser38=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +4 more	GBenign/Likely benign
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)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 385534	NM_000090.4(COL3A1):c.123T>C (p.Asp41=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +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 1781114	NM_000090.4(COL3A1):c.183C>G (p.Leu61=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 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 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 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 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 1593412	NM_000090.4(COL3A1):c.225C>A (p.Pro75=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 519601	NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)	COL3A1 (N76D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GConflicting classifications of pathogenicity
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 896316	NM_000090.4(COL3A1):c.267A>G (p.Pro89=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GConflicting classifications of pathogenicity
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 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 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 2303056	NM_000090.4(COL3A1):c.314A>G (p.Gln105Arg)	COL3A1 (Q105R)	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)	not provided +2 more	GUncertain significance
Select item 2889410	NM_000090.4(COL3A1):c.321C>T (p.Pro107=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 1730309	NM_000090.4(COL3A1):c.333+2T>G	COL3A1	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 837893	NM_000090.4(COL3A1):c.333+4A>G	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1464274	NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys)	COL3A1 (G115C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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 333049	NM_000090.4(COL3A1):c.432C>T (p.Cys144=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 951179	NM_000090.4(COL3A1):c.448-1G>T	COL3A1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 1741698	NM_000090.4(COL3A1):c.458C>G (p.Pro153Arg)	COL3A1 (P153R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 2717251	NM_000090.4(COL3A1):c.477T>C (p.Asp159=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 1744115	NM_000090.4(COL3A1):c.491T>C (p.Val164Ala)	COL3A1 (V164A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 161216	NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)	COL3A1 (L169F)	Single nucleotide variant (missense variant)	not provided +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 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)	Ehlers-Danlos syndrome, type 4 +3 more	GConflicting classifications of pathogenicity
Select item 2452334	NM_000090.4(COL3A1):c.528+5G>T	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 263523	NM_000090.4(COL3A1):c.528+5G>A	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 263640	NM_000090.4(COL3A1):c.531C>A (p.Gly177=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 380408	NM_000090.4(COL3A1):c.546C>T (p.Pro182=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 17228	NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 263923	NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)	COL3A1 (P185R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 199711	NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)	COL3A1 (T187I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1749546	NM_000090.4(COL3A1):c.576T>C (p.Gly192=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2586767	NM_000090.4(COL3A1):c.582+2_582+16del	COL3A1	Deletion (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1749888	NM_000090.4(COL3A1):c.582+4_582+7dup	COL3A1	Duplication (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 101425	NM_000090.4(COL3A1):c.582+5G>A	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 3268718	NM_000090.4(COL3A1):c.588T>C (p.Ser196=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1171508	NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro)	COL3A1 (Q200P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 101351	NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 1163237	NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp)	COL3A1 (G213D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GPathogenic/Likely pathogenic
Select item 101310	NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 101393	NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 101218	NM_000090.4(COL3A1):c.665G>T (p.Gly222Val)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 519614	NM_000090.4(COL3A1):c.667C>G (p.Pro223Ala)	COL3A1 (P223A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 101469	NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)	COL3A1	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2566671	NM_000090.4(COL3A1):c.690T>C (p.Asp230=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 35965	NM_000090.4(COL3A1):c.696A>G (p.Glu232=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +3 more	GLikely benign
Select item 199713	NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser)	COL3A1 (P236S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 254973	NM_000090.4(COL3A1):c.708C>G (p.Pro236=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 101349	NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 519603	NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)	COL3A1 (R238*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 1758923	NM_000090.4(COL3A1):c.743C>T (p.Pro248Leu)	COL3A1 (P248L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 459796	NM_000090.4(COL3A1):c.752A>G (p.Lys251Arg)	COL3A1 (K251R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 757383	NM_000090.4(COL3A1):c.759A>G (p.Pro253=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 101320	NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 498589	NM_000090.4(COL3A1):c.792A>G (p.Gly264=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 74349	NM_000090.4(COL3A1):c.804C>T (p.Phe268=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 1761842	NM_000090.4(COL3A1):c.805G>A (p.Asp269Asn)	COL3A1 (D269N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 101173	NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 381616	NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)	COL3A1 (R271*)	Single nucleotide variant (nonsense)	Familial aortopathy +3 more	GPathogenic
Select item 161215	NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)	COL3A1 (R271Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 3230301	NM_000090.4(COL3A1):c.834A>T (p.Thr278=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 199714	NM_000090.4(COL3A1):c.842C>A (p.Pro281His)	COL3A1 (P281H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 449862	NM_000090.4(COL3A1):c.873C>T (p.Gly291=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 702273	NM_000090.4(COL3A1):c.891A>C (p.Gly297=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 264567	NM_000090.4(COL3A1):c.897+4A>G	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 333052	NM_000090.4(COL3A1):c.898-5T>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 519618	NM_000090.4(COL3A1):c.898-2A>G	COL3A1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 925744	NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln)	COL3A1 (R308Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 1766895	NM_000090.4(COL3A1):c.941C>G (p.Pro314Arg)	COL3A1 (P314R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 700467	NM_000090.4(COL3A1):c.945G>A (p.Gly315=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 811944	NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser)	COL3A1 (A316S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 922437	NM_000090.4(COL3A1):c.969C>T (p.Asp323=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 101388	NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 2237494	NM_000090.4(COL3A1):c.973G>T (p.Ala325Ser)	COL3A1 (A325S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 101447	NM_000090.4(COL3A1):c.997-1G>C	COL3A1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 1013190	NM_000090.4(COL3A1):c.1011T>A (p.Pro337=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 199715	NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)	COL3A1 (G342R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 1778603	NM_000090.4(COL3A1):c.1056dup (p.Val353fs)	COL3A1 (V353fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1785779	NM_000090.4(COL3A1):c.1079G>A (p.Gly360Asp)	COL3A1 (G360D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1304471	NM_000090.4(COL3A1):c.1102A>G (p.Arg368Gly)	COL3A1 (R368G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1332085	NM_000090.4(COL3A1):c.1109A>G (p.Glu370Gly)	COL3A1 (E370G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 459757	NM_000090.4(COL3A1):c.1128C>T (p.His376=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1171504	NM_000090.4(COL3A1):c.1149+3A>G	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance

<< First< Prev

Page of 5