ClinVar Miner

Variants in gene A2ML1 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 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
426 95 0 30 14 0 0 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.

uncertain significance likely benign benign
uncertain significance 0 13 2
likely benign 13 0 30
benign 2 30 0

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_144670.6(A2ML1):c.105C>T (p.Ser35=) rs201185025
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln) rs142219499
NM_144670.6(A2ML1):c.1368C>T (p.His456=) rs200983183
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu)
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu) rs201762847
NM_144670.6(A2ML1):c.1477-13T>C rs778863549
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=) rs146213855
NM_144670.6(A2ML1):c.1683+6A>G rs370846070
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp) rs200503836
NM_144670.6(A2ML1):c.2032G>T (p.Val678Leu) rs148198269
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys) rs192221816
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala) rs200618482
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala) rs374408168
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr) rs200763256
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs)
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr) rs201363860
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=) rs201562692
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) rs199701571
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr) rs202179061
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=) rs200269317
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala) rs565930773
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) rs200964353
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met) rs868320081
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=) rs747281942
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625
NM_144670.6(A2ML1):c.3789C>G (p.Asn1263Lys) rs144876785
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser) rs201478459
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp) rs77431272
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu) rs190379856
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) rs200176373
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg) rs1052149878
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys) rs182743597
NM_144670.6(A2ML1):c.4061+1G>A rs202067416
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=) rs371033800
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter) rs182070540
NM_144670.6(A2ML1):c.462+9GGA[2] rs750639846
NM_144670.6(A2ML1):c.63-4A>G rs200007710
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala) rs192888493
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr) rs184575465

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