ClinVar Miner

Variants in gene COL4A5 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
947 76 19 26 16 0 4 57

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 19 19 3 0 0
likely pathogenic 19 0 1 0 0
uncertain significance 3 1 0 3 16
likely benign 0 0 3 0 7
benign 0 0 16 7 0

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_000495.5(COL4A5):c.1032+5G>T rs104886315
NM_000495.5(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039
NM_000495.5(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_000495.5(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000495.5(COL4A5):c.1371_1379del (p.455_457PPG[1]) rs104886321
NM_000495.5(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_000495.5(COL4A5):c.161G>A (p.Gly54Asp) rs104886043
NM_000495.5(COL4A5):c.1779+1G>A rs104886337
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_000495.5(COL4A5):c.2216C>A (p.Pro739His)
NM_000495.5(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_000495.5(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_000495.5(COL4A5):c.2510-33A>G rs104886358
NM_000495.5(COL4A5):c.262C>T (p.Pro88Ser) rs773883586
NM_000495.5(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_000495.5(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_000495.5(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_000495.5(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_000495.5(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.5(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_000495.5(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745
NM_000495.5(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573
NM_000495.5(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695
NM_000495.5(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_000495.5(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_000495.5(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237
NM_000495.5(COL4A5):c.351_359del (p.Pro118_Gly120del) rs104886390
NM_000495.5(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_000495.5(COL4A5):c.3940C>T (p.Pro1314Ser) rs754836509
NM_000495.5(COL4A5):c.4054C>A (p.Leu1352Ile) rs143020337
NM_000495.5(COL4A5):c.406A>G (p.Ser136Gly)
NM_000495.5(COL4A5):c.4177del (p.Gln1393fs) rs281874729
NM_000495.5(COL4A5):c.4264C>T (p.Arg1422Cys) rs144282156
NM_000495.5(COL4A5):c.4511-345A>G rs1569508899
NM_000495.5(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.5(COL4A5):c.4613G>C (p.Trp1538Ser) rs104886293
NM_000495.5(COL4A5):c.4675C>G (p.Pro1559Ala) rs104886295
NM_000495.5(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.5(COL4A5):c.4793C>T (p.Ser1598Phe) rs1569509257
NM_000495.5(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.5(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_000495.5(COL4A5):c.646-6C>T
NM_000495.5(COL4A5):c.687+5G>A rs1556405930
NM_000495.5(COL4A5):c.858T>C (p.Gly286=) rs183837448
NM_000495.5(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_000495.5(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490
NM_000495.5(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NP_203699.1:p.?

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