ClinVar Miner

Variants in gene combination COL5A1, LOC101448202 with conflicting interpretations

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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
208 33 1 19 9 0 1 30

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 uncertain significance likely benign benign
pathogenic 1 1 0 0
uncertain significance 1 0 8 1
likely benign 0 8 0 19
benign 0 1 19 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000093.4(COL5A1):c.*14C>T rs12553247
NM_000093.4(COL5A1):c.4473C>T (p.Ile1491=) rs537768945
NM_000093.4(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.4(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.4(COL5A1):c.4560C>T (p.Ile1520=) rs2228559
NM_000093.4(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306
NM_000093.4(COL5A1):c.4683A>C (p.Gly1561=) rs149959668
NM_000093.4(COL5A1):c.4699-6C>T rs113090154
NM_000093.4(COL5A1):c.4791T>C (p.Asn1597=) rs886063677
NM_000093.4(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734
NM_000093.4(COL5A1):c.4814C>T (p.Ala1605Val) rs145175057
NM_000093.4(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_000093.4(COL5A1):c.4910G>A (p.Arg1637His) rs199998065
NM_000093.4(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.4(COL5A1):c.4941C>T (p.Pro1647=) rs747549921
NM_000093.4(COL5A1):c.4968C>T (p.Val1656=) rs201871481
NM_000093.4(COL5A1):c.5034G>A (p.Ser1678=) rs148006741
NM_000093.4(COL5A1):c.5068-7T>C rs113256540
NM_000093.4(COL5A1):c.5137-11T>C rs183495554
NM_000093.4(COL5A1):c.5137-12C>T rs191758714
NM_000093.4(COL5A1):c.5151C>T (p.Asp1717=) rs61729558
NM_000093.4(COL5A1):c.5154C>T (p.Ala1718=) rs147434147
NM_000093.4(COL5A1):c.5190C>T (p.Phe1730=) rs61729481
NM_000093.4(COL5A1):c.5250G>A (p.Val1750=) rs200348547
NM_000093.4(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817
NM_000093.4(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.4(COL5A1):c.5370+11C>T rs764644830
NM_000093.4(COL5A1):c.5439G>T (p.Val1813=) rs886063678
NM_000093.4(COL5A1):c.5469G>C (p.Ala1823=) rs367657505

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