ClinVar Miner

Variants with conflicting interpretations studied for Hermansky-Pudlak syndrome

Coded as:
Minimum review status of the submission for Hermansky-Pudlak syndrome: Y axis collection method of the submission for Hermansky-Pudlak 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 Variants with at least 2 submissions 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 kind of conflict
359 46 2 43 39 0 1 84

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
Hermansky-Pudlak syndrome pathogenic likely benign benign
pathogenic 2 0 0
uncertain significance 0 26 22
likely benign 1 0 43

Condition to condition summary #

Total conditions: 9
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 27 0 38 33 0 0 71
Hermansky Pudlak syndrome 2 0 2 0 7 10 0 0 17
Hermansky-Pudlak syndrome 1 0 0 2 3 0 0 0 5
Deficiency of ferroxidase 0 14 0 2 0 0 0 2
Hermansky-Pudlak syndrome 3 0 0 0 1 1 0 0 2
Hermansky-Pudlak syndrome 4 0 0 0 0 2 0 0 2
Hermansky-Pudlak syndrome 5 0 1 0 0 1 0 1 2
not provided 0 6 0 1 1 0 0 2
Hermansky-Pudlak syndrome 9 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 84
Download table as spreadsheet
HGVS dbSNP
NM_000096.3(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.3(CP):c.3182-4A>G rs34272112
NM_000195.4(HPS1):c.*12C>T rs112544050
NM_000195.4(HPS1):c.11T>C (p.Val4Ala) rs58548334
NM_000195.4(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.4(HPS1):c.1472_1487dup16 (p.His497Glnfs) rs281865163
NM_000195.4(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.4(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000195.4(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.4(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.4(HPS1):c.297C>T (p.Thr99=) rs11539873
NM_000195.4(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000195.4(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.4(HPS1):c.972dupC (p.Met325Hisfs) rs281865082
NM_000195.4(HPS1):c.987+13T>C rs12571249
NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) rs142025324
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
NM_003664.4(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.1969-10G>A rs77009095
NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050
NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) rs199599147
NM_003664.4(AP3B1):c.2409_2411delGAA (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.2810-4C>T rs115340604
NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003664.4(AP3B1):c.3023_3025delCTG (p.Ala1008del) rs111935323
NM_003664.4(AP3B1):c.3207G>A (p.Gln1069=) rs34089426
NM_003664.4(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.4(AP3B1):c.687A>G (p.Leu229=) rs35496909
NM_003664.4(AP3B1):c.822C>T (p.Tyr274=) rs112652327
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_022081.5(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.5(HPS4):c.1061C>G (p.Ser354Cys) rs116769827
NM_022081.5(HPS4):c.1700C>T (p.Ala567Val) rs140234219
NM_022081.5(HPS4):c.1899C>T (p.Val633=) rs35993959
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.5(HPS4):c.558G>A (p.Ser186=) rs13054747
NM_022081.5(HPS4):c.696G>A (p.Pro232=) rs3747132
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168
NM_022081.5(HPS4):c.751A>T (p.Thr251Ser) rs34962745
NM_024747.5(HPS6):c.105T>C (p.Arg35=) rs573488604
NM_024747.5(HPS6):c.1764G>A (p.Gln588=) rs145597717
NM_024747.5(HPS6):c.1779G>A (p.Pro593=) rs77529785
NM_024747.5(HPS6):c.398C>T (p.Ala133Val) rs199816481
NM_024747.5(HPS6):c.516G>A (p.Gly172=) rs3737243
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.5(HPS6):c.99A>G (p.Arg33=) rs139591041
NM_032122.4(DTNBP1):c.276A>G (p.Thr92=) rs148092520
NM_032122.4(DTNBP1):c.487A>C (p.Arg163=) rs146546977
NM_032122.4(DTNBP1):c.489-8dupT rs199770715
NM_032122.4(DTNBP1):c.667+2C>T rs61739410
NM_032122.4(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454
NM_032122.4(DTNBP1):c.874A>G (p.Arg292Gly) rs73369534
NM_032122.4(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982
NM_032383.4(HPS3):c.1152C>T (p.His384=) rs113381494
NM_032383.4(HPS3):c.1479G>A (p.Thr493=) rs34197730
NM_032383.4(HPS3):c.2055G>A (p.Leu685=) rs140443498
NM_032383.4(HPS3):c.2215G>A (p.Gly739Arg) rs78336249
NM_032383.4(HPS3):c.51C>T (p.Pro17=) rs141883346
NM_032383.4(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.4(HPS3):c.970+7A>G rs114029765
NM_181507.1(HPS5):c.1165-15C>A rs7128146
NM_181507.1(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.1(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.1(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.1(HPS5):c.1635-4C>G rs79009787
NM_181507.1(HPS5):c.1785-13C>T rs73430857
NM_181507.1(HPS5):c.2537C>T (p.Pro846Leu) rs144875223
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.1(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_181507.1(HPS5):c.986-5C>T rs201439984
NM_212550.4(BLOC1S3):c.-7C>G rs200767686
NM_212550.4(BLOC1S3):c.144C>A (p.Arg48=) rs182286598
NM_212550.4(BLOC1S3):c.270G>A (p.Ala90=) rs758506
NM_212550.4(BLOC1S3):c.339G>A (p.Leu113=) rs546645333
NM_212550.4(BLOC1S3):c.366C>T (p.His122=) rs571269735
NM_212550.4(BLOC1S3):c.478G>T (p.Val160Leu) rs201502372

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