"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1702000	NM_000089.4(COL1A2):c.71-6C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702184	NM_000089.4(COL1A2):c.105C>T (p.Ala35=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702185	NM_000089.4(COL1A2):c.118C>A (p.Pro40Thr)	COL1A2 (P40T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1502921	NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys)	COL1A2 (R41C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance
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 1702187	NM_000089.4(COL1A2):c.150A>G (p.Pro50=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1701994	NM_000089.4(COL1A2):c.223G>T (p.Gly75Trp)	COL1A2 (G75W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 17270	NM_000089.4(COL1A2):c.226-2A>G	COL1A2	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GPathogenic/Likely pathogenic
Select item 17251	NM_000089.4(COL1A2):c.279+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome	GPathogenic
Select item 1702193	NM_000089.4(COL1A2):c.300C>T (p.Gly100=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 1702194	NM_000089.4(COL1A2):c.304C>A (p.Pro102Thr)	COL1A2 (P102T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GUncertain significance
Select item 379658	NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)	COL1A2 (P102S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +8 more	GConflicting classifications of pathogenicity
Select item 1702195	NM_000089.4(COL1A2):c.472G>A (p.Val158Ile)	COL1A2 (V158I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1701998	NM_000089.4(COL1A2):c.486+2T>G	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta +1 more	GLikely pathogenic
Select item 281902	NM_000089.4(COL1A2):c.594+5A>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +7 more	GBenign/Likely benign
Select item 1467432	NM_000089.4(COL1A2):c.693+6T>G	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +3 more	GUncertain significance
Select item 1480675	NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys)	COL1A2 (R234C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GUncertain significance
Select item 1701999	NM_000089.4(COL1A2):c.713G>T (p.Gly238Val)	COL1A2 (G238V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 284986	NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)	COL1A2 (V270I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GBenign/Likely benign
Select item 1702001	NM_000089.4(COL1A2):c.866G>C (p.Gly289Ala)	COL1A2 (G289A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 772979	NM_000089.4(COL1A2):c.880G>T (p.Val294Phe)	COL1A2 (V294F)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 194693	NM_000089.4(COL1A2):c.880G>A (p.Val294Ile)	COL1A2 (V294I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 254958	NM_000089.4(COL1A2):c.937-3C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +10 more	GBenign
Select item 35959	NM_000089.4(COL1A2):c.945C>T (p.Pro315=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 35960	NM_000089.4(COL1A2):c.948C>T (p.Gly316=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +7 more	GBenign/Likely benign
Select item 425643	NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)	COL1A2 (G337S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +9 more	GConflicting classifications of pathogenicity
Select item 1120627	NM_000089.4(COL1A2):c.1113T>C (p.Pro371=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 425645	NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)	COL1A2 (G391S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1685648	NM_000089.4(COL1A2):c.1207G>C (p.Gly403Arg)	COL1A2 (G403R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +1 more	GPathogenic
Select item 1701988	NM_000089.4(COL1A2):c.1252-8_1252-7del	COL1A2	Deletion (intron variant)	Osteogenesis imperfecta +1 more	GLikely benign
Select item 1210061	NM_000089.4(COL1A2):c.1252-7del	COL1A2	Deletion (intron variant)	Osteogenesis imperfecta +2 more	GBenign
Select item 1702186	NM_000089.4(COL1A2):c.1267C>T (p.Arg423Cys)	COL1A2 (R423C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1701989	NM_000089.4(COL1A2):c.1353T>A (p.Gly451=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 35936	NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +13 more	GBenign/Likely benign
Select item 1480154	NM_000089.4(COL1A2):c.1384G>A (p.Ala462Thr)	COL1A2 (A462T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 17275	NM_000089.4(COL1A2):c.1404+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1701990	NM_000089.4(COL1A2):c.1414G>C (p.Gly472Arg)	COL1A2 (G472R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GPathogenic
Select item 1163007	NM_000089.4(COL1A2):c.1475T>C (p.Ile492Thr)	COL1A2 (I492T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 1701991	NM_000089.4(COL1A2):c.1496G>C (p.Gly499Ala)	COL1A2 (G499A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 951017	NM_000089.4(COL1A2):c.1503+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +2 more	GLikely pathogenic
Select item 772932	NM_000089.4(COL1A2):c.1566A>G (p.Pro522=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 684738	NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp)	COL1A2 (G538D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 254953	NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)	COL1A2 (P549A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +11 more	GBenign
Select item 1701992	NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)	COL1A2 (G613E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GLikely pathogenic
Select item 1701993	NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys)	COL1A2 (G622C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GPathogenic/Likely pathogenic
Select item 425650	NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)	COL1A2 (G646V)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +7 more	GPathogenic/Likely pathogenic
Select item 392356	NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)	COL1A2 (R693Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +13 more	GBenign/Likely benign
Select item 456816	NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1701995	NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp)	COL1A2 (G757D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1701996	NM_000089.4(COL1A2):c.2314G>T (p.Gly772Cys)	COL1A2 (G772C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GPathogenic
Select item 420022	NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)	COL1A2 (G772S)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +5 more	GPathogenic/Likely pathogenic
Select item 1701997	NM_000089.4(COL1A2):c.2396G>A (p.Gly799Glu)	COL1A2 (G799E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GPathogenic
Select item 431901	NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)	COL1A2 (P809S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GConflicting classifications of pathogenicity
Select item 1519363	NM_000089.4(COL1A2):c.2455C>T (p.Arg819Cys)	COL1A2 (R819C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 1702189	NM_000089.4(COL1A2):c.2553G>A (p.Glu851=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 360964	NM_000089.4(COL1A2):c.2566-6A>G	COL1A2	Single nucleotide variant (intron variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 1702190	NM_000089.4(COL1A2):c.2674-9C>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1343353	NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)	COL1A2 (G901S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GPathogenic/Likely pathogenic
Select item 1702191	NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser)	COL1A2 (G913S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GLikely pathogenic
Select item 1702192	NM_000089.4(COL1A2):c.2806C>G (p.Pro936Ala)	COL1A2 (P936A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GUncertain significance
Select item 770041	NM_000089.4(COL1A2):c.2826C>T (p.Pro942=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 283127	NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +6 more	GConflicting classifications of pathogenicity
Select item 216909	NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu)	COL1A2 (P986L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +6 more	GConflicting classifications of pathogenicity
Select item 35945	NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +6 more	GBenign/Likely benign
Select item 281098	NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)	COL1A2 (P1016H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +11 more	GConflicting classifications of pathogenicity
Select item 360968	NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)	COL1A2 (G1105S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 35948	NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +7 more	GBenign/Likely benign
Select item 1046126	NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His)	COL1A2 (Y1178H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GUncertain significance
Select item 360974	NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=)	COL1A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 373178	NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)	COL1A2 (N1285H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +12 more	GConflicting classifications of pathogenicity
Select item 912035	NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)	COL1A2	Single nucleotide variant (synonymous variant)	COL1A2-related disorder +6 more	GConflicting classifications of pathogenicity

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Items: 72