"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	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 3070889	NM_000090.4(COL3A1):c.-9T>C	COL3A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, type 4	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 1400615	NM_000090.4(COL3A1):c.14T>A (p.Val5Glu)	COL3A1 (V5E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310978	NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu)	COL3A1 (G8E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 3072886	NM_000090.4(COL3A1):c.24G>C (p.Gly8=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3069448	NM_000090.4(COL3A1):c.30G>C (p.Trp10Cys)	COL3A1 (W10C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	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 3074136	NM_000090.4(COL3A1):c.40G>C (p.Ala14Pro)	COL3A1 (A14P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
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)	not provided +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 2884126	NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)	COL3A1 (L15V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3072467	NM_000090.4(COL3A1):c.55A>C (p.Thr19Pro)	COL3A1 (T19P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073666	NM_000090.4(COL3A1):c.80-3C>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3072869	NM_000090.4(COL3A1):c.80C>G (p.Ala27Gly)	COL3A1 (A27G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	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 918785	NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp)	COL3A1 (E29D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 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 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 3071255	NM_000090.4(COL3A1):c.109C>G (p.Gln37Glu)	COL3A1 (Q37E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
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 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)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 199691	NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)	COL3A1 (D41Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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 1156087	NM_000090.4(COL3A1):c.129T>C (p.Asp43=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 3072291	NM_000090.4(COL3A1):c.178G>C (p.Val60Leu)	COL3A1 (V60L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
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 1498850	NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn)	COL3A1 (D63N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	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 3073546	NM_000090.4(COL3A1):c.197T>G (p.Ile66Arg)	COL3A1 (I66R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	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 412902	NM_000090.4(COL3A1):c.204C>T (p.Asp68=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +2 more	GLikely benign
Select item 3069866	NM_000090.4(COL3A1):c.205G>C (p.Asp69His)	COL3A1 (D69H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
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 263844	NM_000090.4(COL3A1):c.217G>C (p.Asp73His)	COL3A1 (D73H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +4 more	GConflicting classifications of pathogenicity
Select item 3069600	NM_000090.4(COL3A1):c.218A>G (p.Asp73Gly)	COL3A1 (D73G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 254961	NM_000090.4(COL3A1):c.219C>T (p.Asp73=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
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 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 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 3071580	NM_000090.4(COL3A1):c.283-12del	COL3A1	Deletion (intron variant)	Ehlers-Danlos syndrome, type 4	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 3070015	NM_000090.4(COL3A1):c.286A>G (p.Thr96Ala)	COL3A1 (T96A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
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 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 3073802	NM_000090.4(COL3A1):c.307G>A (p.Gly103Arg)	COL3A1 (G103R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074116	NM_000090.4(COL3A1):c.310C>G (p.Pro104Ala)	COL3A1 (P104A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 1403753	NM_000090.4(COL3A1):c.313C>G (p.Gln105Glu)	COL3A1 (Q105E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 404286	NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser)	COL3A1 (G106S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 3072512	NM_000090.4(COL3A1):c.322A>G (p.Lys108Glu)	COL3A1 (K108E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3069795	NM_000090.4(COL3A1):c.331C>T (p.Pro111Ser)	COL3A1 (P111S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	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 3072177	NM_000090.4(COL3A1):c.338C>T (p.Pro113Leu)	COL3A1 (P113L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
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 3072812	NM_000090.4(COL3A1):c.356G>A (p.Arg119Lys)	COL3A1 (R119K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3074894	NM_000090.4(COL3A1):c.366C>A (p.Asp122Glu)	COL3A1 (D122E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3069964	NM_000090.4(COL3A1):c.368C>A (p.Pro123His)	COL3A1 (P123H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3073295	NM_000090.4(COL3A1):c.387A>T (p.Pro129=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 1565316	NM_000090.4(COL3A1):c.390G>T (p.Gly130=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GConflicting classifications of pathogenicity
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 3070092	NM_000090.4(COL3A1):c.399T>G (p.Gly133=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	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 380757	NM_000090.4(COL3A1):c.408C>G (p.Gly136=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3073448	NM_000090.4(COL3A1):c.412C>T (p.Pro138Ser)	COL3A1 (P138S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	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 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 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)	Ehlers-Danlos syndrome, type 4 +4 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 3073612	NM_000090.4(COL3A1):c.485C>G (p.Ser162Cys)	COL3A1 (S162C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3071085	NM_000090.4(COL3A1):c.496G>C (p.Val166Leu)	COL3A1 (V166L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	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 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 3075021	NM_000090.4(COL3A1):c.508G>T (p.Ala170Ser)	COL3A1 (A170S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2413006	NM_000090.4(COL3A1):c.517C>G (p.Pro173Ala)	COL3A1 (P173A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 3073756	NM_000090.4(COL3A1):c.526G>T (p.Ala176Ser)	COL3A1 (A176S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
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 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 263640	NM_000090.4(COL3A1):c.531C>A (p.Gly177=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely 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 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)	not provided +3 more	GLikely benign
Select item 969848	NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala)	COL3A1 (P185A)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 263923	NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)	COL3A1 (P185R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 199711	NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)	COL3A1 (T187I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 3069420	NM_000090.4(COL3A1):c.569A>C (p.His190Pro)	COL3A1 (H190P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2908967	NM_000090.4(COL3A1):c.582+6dup	COL3A1	Duplication (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance

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