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 per condition Variants with at least 2 submissions on the same condition 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 conflict
369 34 1 17 9 0 1 27

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 1 0 0 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 0 1 0 8 1
likely benign 0 0 8 0 17
benign 0 0 1 17 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
NM_001278074.1(COL5A1):c.*14C>T rs12553247
NM_001278074.1(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_001278074.1(COL5A1):c.4560C>T (p.Ile1520=) rs2228559
NM_001278074.1(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633
NM_001278074.1(COL5A1):c.4683A>C (p.Gly1561=) rs149959668
NM_001278074.1(COL5A1):c.4698G>A (p.Pro1566=) rs147904867
NM_001278074.1(COL5A1):c.4699-6C>T rs113090154
NM_001278074.1(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580
NM_001278074.1(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881
NM_001278074.1(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775
NM_001278074.1(COL5A1):c.4814C>T (p.Ala1605Val) rs145175057
NM_001278074.1(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_001278074.1(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_001278074.1(COL5A1):c.4968C>T (p.Val1656=) rs201871481
NM_001278074.1(COL5A1):c.5034G>A (p.Ser1678=) rs148006741
NM_001278074.1(COL5A1):c.5068-139T>C rs113256540
NM_001278074.1(COL5A1):c.5137-12C>T rs191758714
NM_001278074.1(COL5A1):c.5151C>T (p.Asp1717=) rs61729558
NM_001278074.1(COL5A1):c.5154C>T (p.Ala1718=) rs147434147
NM_001278074.1(COL5A1):c.5190C>T (p.Phe1730=) rs61729481
NM_001278074.1(COL5A1):c.5250G>A (p.Val1750=) rs200348547
NM_001278074.1(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227
NM_001278074.1(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817
NM_001278074.1(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029
NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_001278074.1(COL5A1):c.5370+11C>T rs764644830
NM_001278074.1(COL5A1):c.5439G>T (p.Val1813=) rs886063678

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