ClinVar Miner

Variants in gene CPLANE1 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
460 37 5 43 16 1 6 62

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 5 5 3 0 0 0 0 0
likely pathogenic 5 0 3 0 0 0 0 0
uncertain significance 3 3 0 13 4 0 0 0
likely benign 0 0 13 0 37 0 0 0
benign 1 1 5 38 0 1 1 1

All variants with conflicting interpretations #

Total variants: 62
Download table as spreadsheet
NM_023073.3(CPLANE1):c.1125A>G (p.Pro375=) rs61745362
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995
NM_023073.3(CPLANE1):c.1737G>A (p.Ala579=) rs13356183
NM_023073.3(CPLANE1):c.1809T>C (p.Thr603=) rs115435816
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_023073.3(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451
NM_023073.3(CPLANE1):c.2132C>T (p.Ser711Leu) rs116237993
NM_023073.3(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758
NM_023073.3(CPLANE1):c.378G>A (p.Gly126=) rs73750958
NM_023073.3(CPLANE1):c.3795T>A (p.Val1265=) rs74478954
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.4080+27C>T rs78164677
NM_023073.3(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950
NM_023073.3(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971
NM_023073.3(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579
NM_023073.3(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778
NM_023073.3(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949
NM_023073.3(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173
NM_023073.3(CPLANE1):c.5738-6C>T rs148634159
NM_023073.3(CPLANE1):c.5900+7G>T rs78315844
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326
NM_023073.3(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147
NM_023073.3(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169
NM_023073.3(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911
NM_023073.3(CPLANE1):c.6407del (p.Pro2136fs) rs367543064
NM_023073.3(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652
NM_023073.3(CPLANE1):c.6744A>G (p.Gln2248=) rs142772503
NM_023073.3(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149
NM_023073.3(CPLANE1):c.7234-7C>G rs141575785
NM_023073.3(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023073.3(CPLANE1):c.765A>C (p.Gly255=) rs117995360
NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518
NM_023073.3(CPLANE1):c.7866C>T (p.Ser2622=) rs141486731
NM_023073.3(CPLANE1):c.7957+288G>A rs111294855
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_023073.3(CPLANE1):c.81+20= rs6876576
NM_023073.3(CPLANE1):c.8124C>T (p.Asp2708=) rs114126795
NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) rs77014998
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023073.3(CPLANE1):c.8502-3A>T rs58401892
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.8796A>G (p.Pro2932=) rs138495618
NM_023073.3(CPLANE1):c.9184G>A (p.Gly3062Arg) rs7702892
NM_023073.3(CPLANE1):c.9292G>A (p.Gly3098Arg) rs144081297
NM_023073.3(CPLANE1):c.94G>A (p.Val32Ile) rs73750959
Single allele

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