S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 135

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:85557432-105804295
ACTA2, FAS, ARL3, BMPR1A, ENTPD1, CHUK, ABCC2, COL17A1, COX15, CPN1, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP17A1, CYP26A1, DNTT, FGF8, GLUD1, GOT1, GRID1, HELLS, HHEX, TLX1, HPS1, HTR7, IDE, IFIT2, IFIT1, IFIT3, KIF11, LIPA, NDUFB8, NFKB2, PAX2, PDE6C, PGAM1, PITX3, PPP1R3C, PSD, PTEN, ALDH18A1, RBP4, RGR, SCD, SFRP5, FBXW4, SLIT1, SNCG, TAF5, TLL2, WNT8B, LIPF, GBF1, LDB1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, NEURL1, LGI1, NOLC1, MINPP1, KIF20B, SH3PXD2A, SLK, ZNF518A, FRAT1, ACTR1A, NPM3, RPP30, SORBS1, ERLIN1, LBX1, OGA, ADIRF, LDB3, CPEB3, NT5C2, PDCD11, WAPL, PPRC1, RRP12, TBC1D12, DNMBP, FRAT2, IFIT5, DPCD, SEC31B, LRIT1, TCTN3, C10orf12, ANKRD2, CNNM1, MYOF, ANKRD1, GHITM, R3HCC1L, POLL, BLNK, KCNIP2, EXOSC1, CALHM2, CUTC, PLCE1, SUFU, PANK1, CCSER2, EXOC6, FAM35A, CCNJ, MARCH5, CNNM2, WBP1L, CRTAC1, CEP55, CWF19L1, RNLS, PI4K2A, HIF1AN, SLF2, TWNK, TM9SF3, ENTPD7, AS3MT, STAMBPL1, SEMA4G, AVPI1, HPSE2, MMS19, NOC3L, CUEDC2, FBXL15, ARMH3, HPS6, MMRN2, MFSD13A, C10orf95, PDZD7, STN1, UBTD1, TNKS2, TRIM8, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, PCGF6, LOXL4, ZDHHC16, PCGF5, LZTS2, LCOR, MRPL43, PYROXD2, ATP5MD, ATAD1, ARHGAP19, CDHR1, OPALIN, OPN4, HOGA1, PIK3AP1, MORN4, ZFYVE27, FRA10AC1, ANKRD22, SFXN2, BORCS7, AGAP11, CALHM3, ACSM6, LIPJ, HECTD2, FGFBP3, NKX2-3, SLC35G1, CALHM1, BLOC1S2, FFAR4, LIPM, CYP26C1, LRIT2, C10orf99, SLC16A12, CC2D2B, GOLGA7B, MIR107, C10orf62, IFIT1B, MIR346, MIR146B, FAM25A, LIPK, LIPN, SNORA12, NUTM2A, TLX1NB, C10orf131, ADIRF-AS1, KLLN, FAS-AS1, LOC101929662, LINC01520
Metastatic prostate carcinomaPathogenic
(Jul 23, 2015)
no assertion criteria provided
2.
GRCh37:
Chr10:100175995
GRCh38:
Chr10:98416238
HPS1Hermansky-Pudlak syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr10:100176072
GRCh38:
Chr10:98416315
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr10:100176086
GRCh38:
Chr10:98416329
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr10:100176104-100176106
GRCh38:
Chr10:98416347-98416349
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr10:100176104
GRCh38:
Chr10:98416347
HPS1Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr10:100176106
GRCh38:
Chr10:98416349
HPS1Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr10:100176154
GRCh38:
Chr10:98416397
HPS1Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr10:100176236
GRCh38:
Chr10:98416479
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr10:100176316
GRCh38:
Chr10:98416559
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr10:100176339
GRCh38:
Chr10:98416582
HPS1Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr10:100176366
GRCh38:
Chr10:98416609
HPS1Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr10:100176369
GRCh38:
Chr10:98416612
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr10:100176378
GRCh38:
Chr10:98416621
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr10:100176405
GRCh38:
Chr10:98416648
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr10:100176553
GRCh38:
Chr10:98416796
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr10:100176555
GRCh38:
Chr10:98416798
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr10:100176585
GRCh38:
Chr10:98416828
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr10:100176615
GRCh38:
Chr10:98416858
HPS1Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr10:100176627
GRCh38:
Chr10:98416870
HPS1Hermansky-Pudlak syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr10:100176686
GRCh38:
Chr10:98416929
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr10:100176695
GRCh38:
Chr10:98416938
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr10:100176732
GRCh38:
Chr10:98416975
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr10:100176848
GRCh38:
Chr10:98417091
HPS1Hermansky-Pudlak syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr10:100176861
GRCh38:
Chr10:98417104
HPS1Hermansky-Pudlak syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr10:100176869
GRCh38:
Chr10:98417112
HPS1Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr10:100176918
GRCh38:
Chr10:98417161
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr10:100176994
GRCh38:
Chr10:98417237
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr10:100176997
GRCh38:
Chr10:98417240
HPS1Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr10:100177049
GRCh38:
Chr10:98417292
HPS1Hermansky-Pudlak syndromeBenign
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr10:100177309
GRCh38:
Chr10:98417552
HPS1Hermansky-Pudlak syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr10:100177359
GRCh38:
Chr10:98417602
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr10:100177366
GRCh38:
Chr10:98417609
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr10:100177371
GRCh38:
Chr10:98417614
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr10:100177372
GRCh38:
Chr10:98417615
HPS1Hermansky-Pudlak syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr10:100177421
GRCh38:
Chr10:98417664
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
37.
GRCh37:
Chr10:100177428
GRCh38:
Chr10:98417671
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
38.
GRCh37:
Chr10:100177926
GRCh38:
Chr10:98418169
HPS1not specifiedUncertain significance
(May 19, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr10:100177944
GRCh38:
Chr10:98418187
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr10:100177957
GRCh38:
Chr10:98418200
HPS1Hermansky-Pudlak syndrome, not specifiedUncertain significance
(Aug 19, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr10:100177984
GRCh38:
Chr10:98418227
HPS1Hermansky-Pudlak syndrome 1Benign
(Oct 11, 2012)
no assertion criteria provided
42.
GRCh37:
Chr10:100177985
GRCh38:
Chr10:98418228
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr10:100179851
GRCh38:
Chr10:98420094
HPS1Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr10:100179892
GRCh38:
Chr10:98420135
HPS1Hermansky-Pudlak syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr10:100179910
GRCh38:
Chr10:98420153
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
46.
GRCh37:
Chr10:100179917
GRCh38:
Chr10:98420160
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
47.
GRCh37:
Chr10:100182171
GRCh38:
Chr10:98422414
HPS1not specifiedBenign
(Jul 11, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr10:100182178
GRCh38:
Chr10:98422421
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
49.
GRCh37:
Chr10:100182186
GRCh38:
Chr10:98422429
HPS1Hermansky-Pudlak syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr10:100182222
GRCh38:
Chr10:98422465
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr10:100182277
GRCh38:
Chr10:98422520
HPS1not specifiedLikely benigncriteria provided, single submitter
52.
GRCh37:
Chr10:100182285
GRCh38:
Chr10:98422528
HPS1Hermansky-Pudlak syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr10:100183373
GRCh38:
Chr10:98423616
HPS1not specifiedUncertain significance
(Dec 2, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr10:100183511
GRCh38:
Chr10:98423754
HPS1not specifiedUncertain significance
(Jan 14, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr10:100183515
GRCh38:
Chr10:98423758
HPS1Hermansky-Pudlak syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:100183555-100183570
GRCh38:
Chr10:98423798-98423813
HPS1Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, not provided
Pathogenic
(Sep 25, 2017)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:100183570
GRCh38:
Chr10:98423813
HPS1Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:100184062-100184063
GRCh38:
Chr10:98424305-98424306
HPS1not specifiedBenigncriteria provided, single submitter
59.
GRCh37:
Chr10:100184062
GRCh38:
Chr10:98424305
HPS1Hermansky-Pudlak syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr10:100184063
GRCh38:
Chr10:98424306
HPS1Hermansky-Pudlak syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:100184072
GRCh38:
Chr10:98424315
HPS1not providedLikely pathogeniccriteria provided, single submitter
62.
GRCh37:
Chr10:100184092
GRCh38:
Chr10:98424335
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
63.
GRCh37:
Chr10:100185250
GRCh38:
Chr10:98425493
HPS1not specifiedBenigncriteria provided, single submitter
64.
GRCh37:
Chr10:100185310
GRCh38:
Chr10:98425553
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
65.
GRCh37:
Chr10:100185347
GRCh38:
Chr10:98425590
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr10:100185394
GRCh38:
Chr10:98425637
HPS1not specifiedLikely benign
(Oct 12, 2015)
criteria provided, single submitter
67.
GRCh37:
Chr10:100185444
GRCh38:
Chr10:98425687
HPS1Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1Pathogenic/Likely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr10:100185466
GRCh38:
Chr10:98425709
HPS1not specifiedLikely benigncriteria provided, single submitter
69.
GRCh37:
Chr10:100185663
GRCh38:
Chr10:98425906
HPS1not specifiedUncertain significance
(Aug 31, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr10:100185707-100185786
GRCh38:
Chr10:98425950-98426029
HPS1not providedPathogenic
(May 4, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr10:100186959
GRCh38:
Chr10:98427202
HPS1Hermansky-Pudlak syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:100186984-100186985
GRCh38:
Chr10:98427227-98427228
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
73.
GRCh37:
Chr10:100186987
GRCh38:
Chr10:98427230
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
74.
GRCh37:
Chr10:100186987
GRCh38:
Chr10:98427230
HPS1Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, not provided
Pathogenic
(Mar 10, 2017)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr10:100186991
GRCh38:
Chr10:98427234
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr10:100186997
GRCh38:
Chr10:98427240
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
77.
GRCh37:
Chr10:100186997
GRCh38:
Chr10:98427240
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Sep 1, 2000)
no assertion criteria provided
78.
GRCh37:
Chr10:100186998
GRCh38:
Chr10:98427241
HPS1not specifiedUncertain significance
(Jun 8, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr10:100187007
GRCh38:
Chr10:98427250
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr10:100189335
GRCh38:
Chr10:98429578
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
81.
GRCh37:
Chr10:100189567
GRCh38:
Chr10:98429810
HPS1not specified, not providedLikely benign
(Aug 15, 2017)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:100189568
GRCh38:
Chr10:98429811
HPS1Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:100189607
GRCh38:
Chr10:98429850
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr10:100190380
GRCh38:
Chr10:98430623
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
85.
GRCh37:
Chr10:100190396
GRCh38:
Chr10:98430639
HPS1not specifiedUncertain significance
(Apr 10, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr10:100190401
GRCh38:
Chr10:98430644
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr10:100190404
GRCh38:
Chr10:98430647
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr10:100190416-100190418
GRCh38:
Chr10:98430659-98430661
HPS1not specifiedLikely benign
(Nov 4, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr10:100190418
GRCh38:
Chr10:98430661
HPS1not specifiedLikely benigncriteria provided, single submitter
90.
GRCh37:
Chr10:100190444
GRCh38:
Chr10:98430687
HPS1not specifiedLikely benigncriteria provided, single submitter
91.
GRCh37:
Chr10:100190901
GRCh38:
Chr10:98431144
HPS1not specifiedUncertain significance
(Oct 23, 2015)
criteria provided, single submitter
92.
GRCh37:
Chr10:100190920
GRCh38:
Chr10:98431163
HPS1Hermansky-Pudlak syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr10:100190954
GRCh38:
Chr10:98431197
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr10:100190959
GRCh38:
Chr10:98431202
HPS1not specifiedBenign
(Feb 26, 2014)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr10:100190991
GRCh38:
Chr10:98431234
HPS1Hermansky-Pudlak syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr10:100190999
GRCh38:
Chr10:98431242
HPS1Hermansky-Pudlak syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr10:100191024
GRCh38:
Chr10:98431267
HPS1Hermansky-Pudlak syndrome 1Pathogenic
(Oct 11, 2012)
no assertion criteria provided
98.
GRCh37:
Chr10:100193727
GRCh38:
Chr10:98433970
HPS1not specifiedLikely benign
(Nov 24, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr10:100193764
GRCh38:
Chr10:98434007
HPS1not specifiedUncertain significance
(Feb 19, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr10:100193769
GRCh38:
Chr10:98434012
HPS1not specifiedLikely benign
(May 15, 2015)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center