ClinVar Miner

Variants with conflicting interpretations studied for Perlman syndrome

Coded as:
Minimum review status of the submission for Perlman syndrome: Collection method of the submission for Perlman syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
2065 81 0 20 39 0 2 57

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.

All conditions
Perlman syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 2 0 0
likely pathogenic 9 0 0 0 0
uncertain significance 2 0 0 29 14
likely benign 0 0 29 0 11
benign 0 0 14 11 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Perlman syndrome 2065 81 0 20 39 0 2 57

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) rs72998118 0.01233
NM_152383.5(DIS3L2):c.702+10T>G rs184764939 0.00343
NM_152383.5(DIS3L2):c.2370C>T (p.Gly790=) rs199541622 0.00242
NM_152383.5(DIS3L2):c.1570G>A (p.Glu524Lys) rs201308521 0.00147
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) rs187563594 0.00121
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu) rs202059499 0.00073
NM_152383.5(DIS3L2):c.1911A>C (p.Ala637=) rs563679311 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526 0.00052
NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=) rs202042951 0.00047
NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp) rs191608083 0.00041
NM_152383.5(DIS3L2):c.1205-13C>T rs116327839 0.00038
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374 0.00022
NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=) rs369113667 0.00016
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798 0.00013
NM_152383.5(DIS3L2):c.1203C>T (p.Asp401=) rs370165461 0.00011
NM_152383.5(DIS3L2):c.1599C>T (p.His533=) rs760229466 0.00011
NM_152383.5(DIS3L2):c.108G>A (p.Lys36=) rs371477071 0.00010
NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=) rs368518323 0.00010
NM_152383.5(DIS3L2):c.210+10A>G rs201117797 0.00009
NM_152383.5(DIS3L2):c.1205-12G>A rs779551518 0.00008
NM_152383.5(DIS3L2):c.1680G>A (p.Leu560=) rs377644356 0.00008
NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=) rs778830625 0.00007
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=) rs186340144 0.00007
NM_152383.5(DIS3L2):c.1839C>T (p.Pro613=) rs187677159 0.00006
NM_152383.5(DIS3L2):c.1125-6T>G rs764758535 0.00005
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=) rs539081624 0.00005
NM_152383.5(DIS3L2):c.1300G>A (p.Val434Ile) rs758366698 0.00005
NM_152383.5(DIS3L2):c.2159-7T>C rs368022190 0.00005
NM_152383.5(DIS3L2):c.453G>A (p.Pro151=) rs567611268 0.00003
NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val) rs780625125 0.00002
NM_152383.5(DIS3L2):c.519C>T (p.Ser173=) rs143680532 0.00002
NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter) rs760123810 0.00001
NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter) rs766629924 0.00001
NM_152383.5(DIS3L2):c.127C>T (p.Arg43Ter) rs762653147 0.00001
NM_152383.5(DIS3L2):c.1317+15C>G rs553691050 0.00001
NM_152383.5(DIS3L2):c.1425+13A>G rs565049855 0.00001
NM_152383.5(DIS3L2):c.1809G>A (p.Glu603=) rs748787779 0.00001
NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=) rs747739911 0.00001
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter) rs773260717 0.00001
NM_152383.5(DIS3L2):c.2394+5G>A rs1489037110 0.00001
NM_152383.5(DIS3L2):c.2394C>T (p.Asn798=) rs773602107 0.00001
NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=) rs376299829 0.00001
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766
NM_152383.5(DIS3L2):c.1466G>A (p.Cys489Tyr) rs387907116
NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=) rs202227137
NM_152383.5(DIS3L2):c.2302del (p.Leu768fs)
NM_152383.5(DIS3L2):c.2395-13G>T rs374738789
NM_152383.5(DIS3L2):c.2497-14T>C rs1283433476
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs) rs1441475659
NM_152383.5(DIS3L2):c.48del (p.Arg17fs) rs2106220804
NM_152383.5(DIS3L2):c.645del (p.Cys216fs) rs1328362747
NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter) rs199648534
NM_152383.5(DIS3L2):c.780A>G (p.Glu260=) rs2106355380
NM_152383.5(DIS3L2):c.874C>A (p.Arg292=) rs182004457
NM_152383.5(DIS3L2):c.951-8A>G rs886055770

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