ClinVar Miner

Variants in gene COL4A1 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
317 51 10 30 17 1 2 56

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 drug response protective other
pathogenic 10 1 0 0 0 0 0 0
likely pathogenic 1 0 1 0 0 0 0 0
uncertain significance 1 2 0 10 10 1 1 1
likely benign 0 0 9 0 29 0 0 0
benign 0 0 9 29 0 0 0 0

All variants with conflicting interpretations #

Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_001845.6(COL4A1):c.*1014C>T rs139916479
NM_001845.6(COL4A1):c.*609T>C rs189966143
NM_001845.6(COL4A1):c.*975A>C rs28362515
NM_001845.6(COL4A1):c.-103G>A rs538721412
NM_001845.6(COL4A1):c.1000-13C>G rs115358624
NM_001845.6(COL4A1):c.1000-5T>G rs75711155
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) rs750386918
NM_001845.6(COL4A1):c.1466-6C>T rs183563055
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) rs113994104
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) rs113994105
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) rs113994106
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) rs145645897
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2869+6T>C rs557198622
NM_001845.6(COL4A1):c.3198+10G>A rs202002553
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) rs113994111
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800
NM_001845.6(COL4A1):c.3506-7C>G rs377592935
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=) rs372343245
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532
NM_001845.6(COL4A1):c.3877-8G>A rs370539477
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255
NM_001845.6(COL4A1):c.3949+10C>T rs188122235
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) rs189728415
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450
NM_001845.6(COL4A1):c.4640+3G>T rs770167198
NM_001845.6(COL4A1):c.4640+8G>A rs117566874
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) rs113994114
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.553-8C>T rs199534388
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466
NM_001845.6(COL4A1):c.781-12G>A rs202198648
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989
NM_001845.6(COL4A1):c.904-9C>T rs201481886
Single allele

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