List of variants in gene COL1A2 reported as pathogenic for not provided

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: 108

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala)	rs752431578	0.00003
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)	rs749621872	0.00002
NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys)	rs72658160	0.00001
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)	rs72659306	0.00001
NM_000089.4(COL1A2):c.2958del (p.Val987fs)	rs1064793527	0.00001
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp)	rs72656360	0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	rs72656387	0.00001
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)	rs67865220
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser)	rs1064796419
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	rs66619856
NM_000089.4(COL1A2):c.1081_1090-55del	rs1554396162
NM_000089.4(COL1A2):c.1091G>A (p.Gly364Asp)
NM_000089.4(COL1A2):c.1108G>T (p.Gly370Cys)	rs72658103
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val)	rs72658104
NM_000089.4(COL1A2):c.1136G>A (p.Gly379Glu)	rs121912912
NM_000089.4(COL1A2):c.1153G>A (p.Gly385Arg)	rs1584319922
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)	rs67707918
NM_000089.4(COL1A2):c.1197+5G>A	rs68132885
NM_000089.4(COL1A2):c.1252G>A (p.Gly418Ser)	rs72658110
NM_000089.4(COL1A2):c.1316G>A (p.Gly439Asp)	rs1554396355
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	rs1584320605
NM_000089.4(COL1A2):c.1360G>T (p.Gly454Cys)	rs72658117
NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)	rs72658118
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)	rs755058199
NM_000089.4(COL1A2):c.1503+1G>C	rs1554396615
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)	rs1791962073
NM_000089.4(COL1A2):c.1549G>A (p.Gly517Ser)
NM_000089.4(COL1A2):c.1550G>A (p.Gly517Asp)	rs1057516053
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	rs72658129
NM_000089.4(COL1A2):c.1658G>A (p.Gly553Asp)	rs72658137
NM_000089.4(COL1A2):c.1666G>A (p.Gly556Ser)	rs1554396832
NM_000089.4(COL1A2):c.1702G>A (p.Gly568Ser)	rs1064796593
NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser)	rs72658141
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	rs72658143
NM_000089.4(COL1A2):c.1832dup (p.Ser612fs)	rs2115917155
NM_000089.4(COL1A2):c.1847G>T (p.Gly616Val)	rs1554397133
NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp)	rs1584324507
NM_000089.4(COL1A2):c.1971+1G>A	rs72658151
NM_000089.4(COL1A2):c.1972G>T (p.Gly658Cys)	rs2115924247
NM_000089.4(COL1A2):c.1990G>C (p.Gly664Arg)
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)	rs72658154
NM_000089.4(COL1A2):c.1991G>T (p.Gly664Val)	rs72658154
NM_000089.4(COL1A2):c.2009del (p.Gly670fs)	rs886041426
NM_000089.4(COL1A2):c.2045G>A (p.Gly682Asp)	rs72658159
NM_000089.4(COL1A2):c.2054G>A (p.Gly685Asp)	rs886041749
NM_000089.4(COL1A2):c.2099G>A (p.Gly700Asp)	rs72658161
NM_000089.4(COL1A2):c.2133+6_2133+8delinsAAC	rs2115930608
NM_000089.4(COL1A2):c.2144G>A (p.Gly715Asp)	rs72658167
NM_000089.4(COL1A2):c.2152G>A (p.Gly718Ser)	rs72658168
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys)	rs72658173
NM_000089.4(COL1A2):c.2225G>A (p.Gly742Glu)	rs2115931969
NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)
NM_000089.4(COL1A2):c.226-1G>T	rs66820119
NM_000089.4(COL1A2):c.2296-2A>G	rs72658181
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser)	rs72658182
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)	rs72658185
NM_000089.4(COL1A2):c.2332G>A (p.Gly778Ser)	rs72658186
NM_000089.4(COL1A2):c.2342G>A (p.Gly781Asp)	rs1057524873
NM_000089.4(COL1A2):c.2342G>T (p.Gly781Val)	rs1057524873
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala)	rs72658189
NM_000089.4(COL1A2):c.2405G>A (p.Gly802Asp)
NM_000089.4(COL1A2):c.2405G>C (p.Gly802Ala)	rs1562906013
NM_000089.4(COL1A2):c.2450G>A (p.Gly817Glu)
NM_000089.4(COL1A2):c.2486G>A (p.Gly829Asp)
NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser)	rs72658193
NM_000089.4(COL1A2):c.2567G>A (p.Gly856Glu)	rs886039689
NM_000089.4(COL1A2):c.2673+1G>A	rs1085307477
NM_000089.4(COL1A2):c.2720G>A (p.Gly907Asp)	rs121912900
NM_000089.4(COL1A2):c.2809G>T (p.Gly937Cys)	rs72659309
NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val)	rs1792257312
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser)	rs72659312
NM_000089.4(COL1A2):c.2864G>A (p.Gly955Asp)	rs2115952213
NM_000089.4(COL1A2):c.2891G>A (p.Gly964Asp)	rs1085307707
NM_000089.4(COL1A2):c.2943+1_2943+2del	rs1554398361
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser)	rs1562907287
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	rs72659319
NM_000089.4(COL1A2):c.3034G>C (p.Gly1012Arg)	rs72659319
NM_000089.4(COL1A2):c.3079G>A (p.Gly1027Arg)	rs72659322
NM_000089.4(COL1A2):c.3080G>A (p.Gly1027Glu)	rs72659323
NM_000089.4(COL1A2):c.3197G>T (p.Gly1066Val)
NM_000089.4(COL1A2):c.3260G>A (p.Gly1087Asp)	rs72659335
NM_000089.4(COL1A2):c.3287G>C (p.Gly1096Ala)	rs72659337
NM_000089.4(COL1A2):c.3304G>A (p.Gly1102Ser)	rs67768540
NM_000089.4(COL1A2):c.335G>T (p.Gly112Val)
NM_000089.4(COL1A2):c.3527-1G>T	rs2115961955
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)	rs72656358
NM_000089.4(COL1A2):c.371G>A (p.Gly124Asp)	rs72656359
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)	rs72656360
NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp)	rs1057524847
NM_000089.4(COL1A2):c.432+4_432+7del	rs72656363
NM_000089.4(COL1A2):c.487-4_501del	rs74315146
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)	rs72656370
NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys)	rs1057517953
NM_000089.4(COL1A2):c.595-2A>G	rs72656375
NM_000089.4(COL1A2):c.604G>C (p.Gly202Arg)
NM_000089.4(COL1A2):c.693+5G>A
NM_000089.4(COL1A2):c.694-2A>C	rs1554395903
NM_000089.4(COL1A2):c.739-2A>T	rs72656382
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys)	rs1064794058
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)	rs67525025
NM_000089.4(COL1A2):c.792G>A (p.Lys264=)	rs2115890442
NM_000089.4(COL1A2):c.812G>A (p.Gly271Asp)
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)	rs906553840
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg)	rs906553840
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)	rs1554396083
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	rs66612022
NM_000089.4(COL1A2):c.983G>A (p.Gly328Asp)	rs72656396
NM_000089.4(COL1A2):c.983G>T (p.Gly328Val)	rs72656396

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