ClinVar Miner

Variants in gene COL4A4 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
338 26 0 29 13 0 5 43

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 0 6 0 0 0
likely pathogenic 6 0 4 0 1
uncertain significance 0 4 0 12 5
likely benign 0 0 12 0 23
benign 0 1 5 23 0

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1821G>A (p.Ala607=) rs114684841
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2279dup (p.Asp761Argfs) rs1553643669
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2384-5T>C rs3769641
NM_000092.4(COL4A4):c.2420delG (p.Gly807Valfs) rs786205640
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.4(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3963T>C (p.Asp1321=) rs116124529
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.4185G>A (p.Gly1395=) rs55978207
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711
NM_000092.4(COL4A4):c.594+1G>A rs1553690565
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.81_86delACTCAT (p.Ile29_Leu30del) rs771943519
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421

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