"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL1A2"[g - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456832	NM_000089.4(COL1A2):c.52T>G (p.Cys18Gly)	COL1A2 (C18G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 707323	NM_000089.4(COL1A2):c.71-7T>C	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3031081	NM_000089.4(COL1A2):c.81+9A>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder	GLikely benign
Select item 1544137	NM_000089.4(COL1A2):c.81+10A>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder +2 more	GLikely benign
Select item 2945002	NM_000089.4(COL1A2):c.97-7C>T	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder +2 more	GLikely benign
Select item 360944	NM_000089.4(COL1A2):c.122G>A (p.Arg41His)	COL1A2 (R41H)	Single nucleotide variant (missense variant)	COL1A2-related disorder +7 more	GBenign/Likely benign
Select item 723642	NM_000089.4(COL1A2):c.226-6C>A	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder +3 more	GBenign/Likely benign
Select item 254955	NM_000089.4(COL1A2):c.246T>C (p.Asp82=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +5 more	GBenign
Select item 1579459	NM_000089.4(COL1A2):c.576C>G (p.Pro192=)	COL1A2	Single nucleotide variant (synonymous variant)	COL1A2-related disorder +3 more	GLikely benign
Select item 1459490	NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp)	COL1A2 (G211D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic
Select item 1416028	NM_000089.4(COL1A2):c.644C>T (p.Ala215Val)	COL1A2 (A215V)	Single nucleotide variant (missense variant)	COL1A2-related disorder +2 more	GUncertain significance
Select item 679609	NM_000089.4(COL1A2):c.679G>A (p.Ala227Thr)	COL1A2 (A227T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GLikely benign
Select item 1457226	NM_000089.4(COL1A2):c.794G>T (p.Gly265Val)	COL1A2 (G265V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic/Likely pathogenic
Select item 254957	NM_000089.4(COL1A2):c.936+14C>T	COL1A2	Single nucleotide variant (intron variant)	not specified +8 more	GBenign
Select item 254958	NM_000089.4(COL1A2):c.937-3C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +10 more	GBenign
Select item 35959	NM_000089.4(COL1A2):c.945C>T (p.Pro315=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GConflicting classifications of pathogenicity
Select item 2636261	NM_000089.4(COL1A2):c.947G>A (p.Gly316Asp)	COL1A2 (G316D)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 35960	NM_000089.4(COL1A2):c.948C>T (p.Gly316=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GBenign/Likely benign
Select item 456847	NM_000089.4(COL1A2):c.981C>T (p.Arg327=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +4 more	GBenign/Likely benign
Select item 772935	NM_000089.4(COL1A2):c.1086G>A (p.Glu362=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GLikely benign
Select item 2630927	NM_000089.4(COL1A2):c.1156G>A (p.Glu386Lys)	COL1A2 (E386K)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GUncertain significance
Select item 3031364	NM_000089.4(COL1A2):c.1217G>A (p.Gly406Asp)	COL1A2 (G406D)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 3050714	NM_000089.4(COL1A2):c.1252-29C>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder	GLikely benign
Select item 1770017	NM_000089.4(COL1A2):c.1326G>C (p.Gly442=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 994303	NM_000089.4(COL1A2):c.1329G>A (p.Glu443=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 3030367	NM_000089.4(COL1A2):c.1350+3A>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder	GLikely benign
Select item 35936	NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)	COL1A2	Single nucleotide variant (synonymous variant)	not specified +13 more	GBenign/Likely benign
Select item 254952	NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta, perinatal lethal +8 more	GBenign
Select item 2060015	NM_000089.4(COL1A2):c.1512T>C (p.Pro504=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 254953	NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)	COL1A2 (P549A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +11 more	GBenign
Select item 254954	NM_000089.4(COL1A2):c.1665+15A>G	COL1A2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1691224	NM_000089.4(COL1A2):c.1865G>T (p.Gly622Val)	COL1A2 (G622V)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 2051570	NM_000089.4(COL1A2):c.1912C>T (p.Pro638Ser)	COL1A2 (P638S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 360960	NM_000089.4(COL1A2):c.2025+9A>G	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +4 more	GBenign/Likely benign
Select item 2636256	NM_000089.4(COL1A2):c.2026G>A (p.Gly676Ser)	COL1A2 (G676S)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 2637094	NM_000089.4(COL1A2):c.2079+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	COL1A2-related disorder	GLikely pathogenic
Select item 35940	NM_000089.4(COL1A2):c.2082C>A (p.Gly694=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +5 more	GBenign/Likely benign
Select item 2579637	NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)	COL1A2 (G745R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 810133	NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)	COL1A2 (P770L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 945199	NM_000089.4(COL1A2):c.2465G>A (p.Arg822His)	COL1A2 (R822H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2630223	NM_000089.4(COL1A2):c.2495G>A (p.Gly832Glu)	COL1A2 (G832E)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 2636158	NM_000089.4(COL1A2):c.2504G>T (p.Gly835Val)	COL1A2 (G835V)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 456825	NM_000089.4(COL1A2):c.2796C>T (p.Asn932=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +3 more	GLikely benign
Select item 764415	NM_000089.4(COL1A2):c.2844C>T (p.Arg948=)	COL1A2	Single nucleotide variant (synonymous variant)	COL1A2-related disorder +2 more	GLikely benign
Select item 391277	NM_000089.4(COL1A2):c.2853T>C (p.Pro951=)	COL1A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 456827	NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)	COL1A2 (I954T)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +12 more	GBenign/Likely benign
Select item 1797169	NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3032861	NM_000089.4(COL1A2):c.2900G>T (p.Gly967Val)	COL1A2 (G967V)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 1328474	NM_000089.4(COL1A2):c.3070G>A (p.Gly1024Arg)	COL1A2 (G1024R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
Select item 254956	NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +6 more	GBenign
Select item 283153	NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)	COL1A2 (V1047M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 911980	NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +5 more	GBenign/Likely benign
Select item 2636291	NM_000089.4(COL1A2):c.3160-1G>C	COL1A2	Single nucleotide variant (splice acceptor variant)	COL1A2-related disorder	GLikely pathogenic
Select item 2630387	NM_000089.4(COL1A2):c.3161G>T (p.Gly1054Val)	COL1A2 (G1054V)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 1190513	NM_000089.4(COL1A2):c.3186T>G (p.Ala1062=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +4 more	GLikely benign
Select item 2577428	NM_000089.4(COL1A2):c.3277G>T (p.Gly1093Cys)	COL1A2 (G1093C)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 2636228	NM_000089.4(COL1A2):c.3463T>A (p.Ser1155Thr)	COL1A2 (S1155T)	Single nucleotide variant (missense variant)	COL1A2-related disorder +2 more	GUncertain significance
Select item 735357	NM_000089.4(COL1A2):c.3513A>G (p.Pro1171=)	COL1A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 668186	NM_000089.4(COL1A2):c.3600C>T (p.Gly1200=)	COL1A2	Single nucleotide variant (synonymous variant)	COL1A2-related disorder +4 more	GLikely benign
Select item 594481	NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)	COL1A2 (R1205W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 509413	NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=)	COL1A2	Single nucleotide variant (synonymous variant)	COL1A2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 1562098	NM_000089.4(COL1A2):c.3852C>A (p.Gly1284=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GLikely benign
Select item 912035	NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +6 more	GConflicting classifications of pathogenicity
Select item 909120	NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +2 more	GConflicting classifications of pathogenicity
Select item 3036963	NM_000089.4(COL1A2):c.3998C>T (p.Thr1333Ile)	COL1A2 (T1333I)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GUncertain significance
Select item 2633327	NM_000089.4(COL1A2):c.4033G>A (p.Ala1345Thr)	COL1A2 (A1345T)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GUncertain significance

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Items: 66