C0268338[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1163236	NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)	COL3A1 (G177V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely 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 659067	NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser)	COL3A1 (G276S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic
Select item 529326	NM_000090.4(COL3A1):c.898-14A>G	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1487337	NM_000090.4(COL3A1):c.1050+7A>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +1 more	GConflicting classifications of pathogenicity
Select item 101248	NM_000090.4(COL3A1):c.1142G>A (p.Gly381Asp)	COL3A1	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17202	NM_000090.4(COL3A1):c.1347+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 426985	NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)	COL3A1 (R509H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 2682802	NM_000090.4(COL3A1):c.1651C>A (p.Pro551Thr)	COL3A1 (P551T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2418894	NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)	COL3A1 (R572*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome +3 more	GPathogenic/Likely pathogenic
Select item 628468	NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln)	COL3A1 (R596Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 333058	NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser)	COL3A1 (A689S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 101362	NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val)	COL3A1	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1343349	NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del)	COL3A1 (P770del)	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 432085	NM_000090.4(COL3A1):c.2381G>A (p.Arg794His)	COL3A1, LOC126806446 (R794H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 404292	NM_000090.4(COL3A1):c.2446-10T>C	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 101396	NM_000090.4(COL3A1):c.2534dup (p.Gly846fs)	COL3A1 (G846fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 199703	NM_000090.4(COL3A1):c.3202-14del	COL3A1	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 927774	NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val)	COL3A1 (A1075V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 199742	NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)	COL3A1 (R1109G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 101427	NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)	COL3A1 (R1109*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1693855	NM_000090.4(COL3A1):c.3333C>A (p.Phe1111Leu)	COL3A1 (F1111L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 404306	NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)	COL3A1 (P1138L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 439517	NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)	COL3A1 (A1203T)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 263915	NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)	COL3A1 (A1259T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 263557	NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)	COL3A1 (R1358Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 199753	NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	COL3A1 (R1363*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4 +2 more	GPathogenic/Likely pathogenic
Select item 372575	NM_000090.4(COL3A1):c.4254+3A>G	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity

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Items: 30