ClinVar Miner

Variants in gene ALK 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
4522 400 0 49 50 4 0 95

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 uncertain significance likely benign benign risk factor
pathogenic 0 0 0 0 3
uncertain significance 0 0 48 4 1
likely benign 0 48 0 49 1
benign 0 4 49 0 0
risk factor 3 1 1 0 0

All variants with conflicting interpretations #

Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_004304.5(ALK):c.1719C>T (p.Thr573=) rs74830770 0.00577
NM_004304.5(ALK):c.4836G>A (p.Lys1612=) rs78174819 0.00363
NM_004304.5(ALK):c.2268C>T (p.Gly756=) rs149853746 0.00304
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066 0.00232
NM_004304.5(ALK):c.1110G>A (p.Glu370=) rs138784554 0.00195
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_004304.5(ALK):c.2676C>T (p.Ala892=) rs138668699 0.00164
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
NM_004304.5(ALK):c.2148C>T (p.Ser716=) rs55733526 0.00096
NM_004304.5(ALK):c.2613C>T (p.Asn871=) rs150557024 0.00093
NM_004304.5(ALK):c.4796C>A (p.Pro1599His) rs1881423 0.00091
NM_004304.5(ALK):c.2430C>T (p.Ser810=) rs150292405 0.00086
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_004304.5(ALK):c.469C>T (p.Pro157Ser) rs74774946 0.00055
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu) rs140733978 0.00054
NM_004304.5(ALK):c.3939-8A>G rs3738869 0.00054
NM_004304.5(ALK):c.1234C>T (p.Arg412Cys) rs147102592 0.00053
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) rs56181542 0.00046
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_004304.5(ALK):c.2451C>T (p.Gly817=) rs183314518 0.00039
NM_004304.5(ALK):c.1755C>T (p.Ala585=) rs373605278 0.00032
NM_004304.5(ALK):c.2526C>T (p.Ala842=) rs145271283 0.00029
NM_004304.5(ALK):c.3102G>A (p.Ser1034=) rs138771319 0.00029
NM_004304.5(ALK):c.310C>T (p.Pro104Ser) rs576431612 0.00026
NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser) rs372612147 0.00026
NM_004304.5(ALK):c.3291C>T (p.Cys1097=) rs370170353 0.00022
NM_004304.5(ALK):c.4185C>T (p.Thr1395=) rs571470900 0.00022
NM_004304.5(ALK):c.3035C>T (p.Thr1012Met) rs35073634 0.00021
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431 0.00019
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp) rs143647372 0.00018
NM_004304.5(ALK):c.4407G>A (p.Pro1469=) rs372471601 0.00018
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_004304.5(ALK):c.2478C>T (p.Tyr826=) rs142126984 0.00016
NM_004304.5(ALK):c.1626G>C (p.Pro542=) rs143916398 0.00013
NM_004304.5(ALK):c.3173-11C>T rs79339096 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_004304.5(ALK):c.597C>T (p.Gly199=) rs200868013 0.00012
NM_004304.5(ALK):c.692C>G (p.Thr231Arg) rs142120301 0.00012
NM_004304.5(ALK):c.1111G>A (p.Ala371Thr) rs149968229 0.00011
NM_004304.5(ALK):c.2928C>T (p.His976=) rs75895956 0.00011
NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr) rs370049091 0.00011
NM_004304.5(ALK):c.2632+8G>A rs199653862 0.00009
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546 0.00008
NM_004304.5(ALK):c.4473G>A (p.Lys1491=) rs148987382 0.00007
NM_004304.5(ALK):c.1689C>T (p.Asn563=) rs565743321 0.00005
NM_004304.5(ALK):c.3030C>T (p.His1010=) rs367642503 0.00005
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln) rs199987354 0.00005
NM_004304.5(ALK):c.1044C>T (p.Ala348=) rs200293454 0.00004
NM_004304.5(ALK):c.1787T>C (p.Met596Thr) rs754810505 0.00004
NM_004304.5(ALK):c.32C>T (p.Pro11Leu) rs767822322 0.00004
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) rs113994091 0.00004
NM_004304.5(ALK):c.3210G>A (p.Gln1070=) rs138178848 0.00003
NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter) rs145028315 0.00003
NM_004304.5(ALK):c.386G>T (p.Gly129Val) rs760041708 0.00003
NM_004304.5(ALK):c.4425C>T (p.His1475=) rs139039449 0.00003
NM_004304.5(ALK):c.615C>G (p.Ser205=) rs567498111 0.00003
NM_004304.5(ALK):c.872G>A (p.Arg291His) rs572340007 0.00003
NM_004304.5(ALK):c.2265C>T (p.His755=) rs770603023 0.00002
NM_004304.5(ALK):c.2979C>T (p.Asp993=) rs761999849 0.00002
NM_004304.5(ALK):c.3939-9C>T rs749848775 0.00002
NM_004304.5(ALK):c.4480G>A (p.Gly1494Arg) rs199940609 0.00002
NM_004304.5(ALK):c.140C>T (p.Ser47Leu) rs541315214 0.00001
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg) rs762358335 0.00001
NM_004304.5(ALK):c.1908C>G (p.Leu636=) rs1268649558 0.00001
NM_004304.5(ALK):c.2304T>C (p.Asp768=) rs758649392 0.00001
NM_004304.5(ALK):c.3366G>A (p.Leu1122=) rs758871506 0.00001
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val) rs74716434 0.00001
NM_004304.5(ALK):c.4344C>T (p.Ser1448=) rs886055929 0.00001
NM_004304.5(ALK):c.4608G>A (p.Glu1536=) rs147241767 0.00001
NM_004304.5(ALK):c.4809T>C (p.His1603=) rs758502850 0.00001
NM_004304.5(ALK):c.709T>C (p.Ser237Pro) rs757916299 0.00001
NM_004304.5(ALK):c.768G>A (p.Leu256=) rs201536994 0.00001
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys) rs779282861
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg) rs762358335
NM_004304.5(ALK):c.1890C>T (p.Ile630=) rs1278070199
NM_004304.5(ALK):c.2073C>T (p.Ser691=) rs370435082
NM_004304.5(ALK):c.2391G>A (p.Glu797=) rs372037531
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) rs61754865
NM_004304.5(ALK):c.2901C>A (p.Thr967=) rs886055930
NM_004304.5(ALK):c.291G>T (p.Pro97=) rs2148443574
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.5(ALK):c.3600G>A (p.Ala1200=) rs56247462
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004304.5(ALK):c.510C>T (p.Leu170=) rs886055933
NM_004304.5(ALK):c.615C>A (p.Ser205=) rs567498111
NM_004304.5(ALK):c.616G>A (p.Ala206Thr) rs141093002
NM_004304.5(ALK):c.660C>T (p.Phe220=) rs1667944556
NM_004304.5(ALK):c.822G>A (p.Leu274=) rs1265006535

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