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

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 308902	NM_001844.5(COL2A1):c.*4C>T	COL2A1	Single nucleotide variant (3 prime UTR variant)	Connective tissue disorder +4 more	GBenign
Select item 516233	NM_001844.5(COL2A1):c.4449G>A (p.Pro1483=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 143240	NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del)	COL2A1 (I1463del +1 more)	Deletion (inframe_deletion)	Connective tissue disorder	GLikely pathogenic
Select item 516324	NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +19 more	GBenign/Likely benign
Select item 499946	NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser)	COL2A1 (G1443S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 1702379	NM_001844.5(COL2A1):c.4317+1G>A	COL2A1	Single nucleotide variant (splice donor variant)	Connective tissue disorder	GLikely pathogenic
Select item 594357	NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 197948	NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +4 more	GBenign/Likely benign
Select item 308908	NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)	COL2A1 (G1246S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 883498	NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)	COL2A1 (Y1238S +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +3 more	GConflicting classifications of pathogenicity
Select item 1702378	NM_001844.5(COL2A1):c.3598-5T>C	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 17361	NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	COL2A1 (G1128S +1 more)	Single nucleotide variant (missense variant)	Namaqualand hip dysplasia +7 more	GPathogenic/Likely pathogenic
Select item 380468	NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1702377	NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp)	COL2A1 (G1017D +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 1702376	NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys)	COL2A1 (G1008C +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 258232	NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1702375	NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg)	COL2A1 (G915R +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 839628	NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)	COL2A1 (P970L +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 1125037	NM_001844.5(COL2A1):c.2892C>T (p.Pro964=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702374	NM_001844.5(COL2A1):c.2680-1G>A	COL2A1	Single nucleotide variant (splice acceptor variant)	Connective tissue disorder	GLikely pathogenic
Select item 93789	NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +4 more	GBenign
Select item 258230	NM_001844.5(COL2A1):c.2625+9C>T	COL2A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1702373	NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala)	COL2A1 (G780A +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 308917	NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +19 more	GBenign/Likely benign
Select item 1702531	NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp)	COL2A1 (G705D +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 1702530	NM_001844.5(COL2A1):c.2248G>A (p.Gly750Arg)	COL2A1 (G681R +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GPathogenic
Select item 516232	NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)	COL2A1	Single nucleotide variant (synonymous variant)	Legg-Calve-Perthes disease +18 more	GBenign/Likely benign
Select item 1702529	NM_001844.5(COL2A1):c.2156G>A (p.Arg719His)	COL2A1 (R650H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1666488	NM_001844.5(COL2A1):c.2091C>G (p.Pro697=)	COL2A1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1702528	NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser)	COL2A1 (G615S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 873513	NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser)	COL2A1 (G600S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 258220	NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	COL2A1 (T638I +1 more)	Single nucleotide variant (missense variant)	not provided +19 more	GBenign/Likely benign
Select item 1702527	NM_001844.5(COL2A1):c.1862G>A (p.Gly621Glu)	COL2A1 (G552E +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GPathogenic/Likely pathogenic
Select item 1702526	NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu)	COL2A1 (G489E +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 426404	NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)	COL2A1 (R533* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 258211	NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +19 more	GBenign/Likely benign
Select item 195744	NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu)	COL2A1 (P478L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1702512	NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser)	COL2A1 (G405S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 258209	NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +4 more	GBenign/Likely benign
Select item 1702508	NM_001844.5(COL2A1):c.1267-2A>G	COL2A1	Single nucleotide variant (splice acceptor variant)	Connective tissue disorder	GLikely pathogenic
Select item 258208	NM_001844.5(COL2A1):c.1266+7G>A	COL2A1	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia, Beighton type +19 more	GBenign/Likely benign
Select item 258206	NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 510457	NM_001844.5(COL2A1):c.969+6T>C	COL2A1	Single nucleotide variant (intron variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 308933	NM_001844.5(COL2A1):c.610-7G>A	COL2A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1702380	NM_001844.5(COL2A1):c.604_609+2del	COL2A1	Deletion (splice donor variant)	Connective tissue disorder	GLikely pathogenic
Select item 1480577	NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr)	COL2A1 (A125T +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 258239	NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp)	COL2A1 (E142D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 195149	NM_001844.5(COL2A1):c.213C>T (p.Asp71=)	COL2A1	Single nucleotide variant (synonymous variant +1 more)	Type II Collagenopathies +4 more	GBenign/Likely benign
Select item 308937	NM_001844.5(COL2A1):c.85+10C>G	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +4 more	GConflicting classifications of pathogenicity
Select item 308938	NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp)	COL2A1 (A6D)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +3 more	GBenign/Likely benign

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Items: 51