List of variants in gene COL2A1 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_001844.4(COL2A1):c.2465delG (p.Gly822Valfs)	rs886044292
NM_001844.5(COL2A1):c.1023+1G>A	rs886043794
NM_001844.5(COL2A1):c.1052del (p.Gly351fs)	rs398123628
NM_001844.5(COL2A1):c.1056del (p.Ala353fs)	rs794727185
NM_001844.5(COL2A1):c.1071del (p.Pro358fs)	rs886043797
NM_001844.5(COL2A1):c.1123-1G>A	rs1565684864
NM_001844.5(COL2A1):c.1214del (p.Gly405fs)	rs794727225
NM_001844.5(COL2A1):c.1358G>C (p.Gly453Ala)	rs794727339
NM_001844.5(COL2A1):c.1420-2A>C	rs794727377
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)	rs121912880
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys)	rs121912880
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)	rs886044555
NM_001844.5(COL2A1):c.1924G>T (p.Gly642Ter)	rs794727472
NM_001844.5(COL2A1):c.2015G>C (p.Gly672Ala)	rs794727546
NM_001844.5(COL2A1):c.2219dup (p.Gly741fs)	rs1565677720
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)	rs886043410
NM_001844.5(COL2A1):c.2382del (p.Gly795fs)	rs886044151
NM_001844.5(COL2A1):c.2530C>T (p.Gln844Ter)	rs794727607
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	rs794727261
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)	rs121912866
NM_001844.5(COL2A1):c.297del (p.Gln99fs)	rs886044245
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)	rs748459670
NM_001844.5(COL2A1):c.310G>T (p.Gly104Ter)	rs764210489
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)	rs121912873
NM_001844.5(COL2A1):c.3382G>C (p.Gly1128Arg)	rs886042612
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter)	rs886042651
NM_001844.5(COL2A1):c.3791_3794del (p.Asn1264fs)	rs794727748
NM_001844.5(COL2A1):c.3887-1G>C	rs1565666318
NM_001844.5(COL2A1):c.4195_4205delinsAGCATTGCC (p.Tyr1399fs)	rs1555164385
NM_001844.5(COL2A1):c.4328del (p.Gly1443fs)	rs1555164232
NM_001844.5(COL2A1):c.4447_4450del (p.Pro1483fs)	rs794727761
NM_001844.5(COL2A1):c.714dup (p.Met239fs)	rs886043934
NM_001844.5(COL2A1):c.762+1G>A	rs794727026
NM_001844.5(COL2A1):c.85+1G>C	rs727503882
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp)	rs121912877

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