ClinVar Miner

Variants in gene COL4A4 with conflicting interpretations

See also:
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
807 68 0 31 19 0 9 58

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 8 1 0 0
likely pathogenic 8 0 7 0 1
uncertain significance 1 7 0 12 8
likely benign 0 0 12 0 23
benign 0 1 8 23 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NM_000092.4(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471
NM_000092.4(COL4A4):c.1353C>T (p.Gly451=) rs199511948
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936
NM_000092.4(COL4A4):c.1776T>C (p.Ala592=) rs188655353
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
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.2056+10A>G rs138869451
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2589C>T (p.Pro863=) rs772517977
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.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3506-8T>G rs761588725
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.4082-1G>T rs1559438651
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
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.4288G>A (p.Gly1430Arg) rs775926807
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.4(COL4A4):c.675dup (p.Gly226fs) rs1553688335
NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) rs771943519
NM_000092.4(COL4A4):c.90C>T (p.Leu30=) rs747805491
NM_000092.5(COL4A4):c.1045C>T rs534522842
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=) rs116124529
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172

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