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Items: 68

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:77287899
GRCh38:
Chr15:76995558
PSTPIP1not specifiedLikely benign
(Jun 23, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr15:77310484
GRCh38:
Chr15:77018143
PSTPIP1not specifiedLikely benign
(Dec 2, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr15:77310489
GRCh38:
Chr15:77018148
PSTPIP1not specifiedUncertain significance
(Mar 4, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr15:77310534
GRCh38:
Chr15:77018193
PSTPIP1not specifiedUncertain significance
(Aug 11, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr15:77310790
GRCh38:
Chr15:77018449
PSTPIP1not specifiedLikely benign
(Nov 25, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr15:77310792
GRCh38:
Chr15:77018451
PSTPIP1not specifiedLikely benign
(Mar 22, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr15:77310793
GRCh38:
Chr15:77018452
PSTPIP1not specifiedLikely benign
(Dec 11, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr15:77310806
GRCh38:
Chr15:77018465
PSTPIP1not specifiedUncertain significance
(Sep 5, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr15:77310863
GRCh38:
Chr15:77018522
PSTPIP1Behcet's syndrome, Pyogenic arthritis, pyoderma gangrenosum and acne, not specified
Conflicting interpretations of pathogenicity
(Jan 5, 2018)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr15:77310864
GRCh38:
Chr15:77018523
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:77310884
GRCh38:
Chr15:77018543
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr15:77317648
GRCh38:
Chr15:77025307
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign/Likely benign
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr15:77317660
GRCh38:
Chr15:77025319
PSTPIP1not specifiedUncertain significance
(Apr 24, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr15:77317679
GRCh38:
Chr15:77025338
PSTPIP1not specifiedBenign
(Oct 27, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr15:77317955
GRCh38:
Chr15:77025614
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr15:77317965
GRCh38:
Chr15:77025624
PSTPIP1not specifiedBenign
(Oct 27, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr15:77320177
GRCh38:
Chr15:77027836
PSTPIP1not specifiedUncertain significance
(Feb 11, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr15:77320875
GRCh38:
Chr15:77028534
PSTPIP1not specifiedBenign
(Jun 19, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr15:77320877
GRCh38:
Chr15:77028536
PSTPIP1not specifiedLikely benign
(Mar 5, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr15:77320965
GRCh38:
Chr15:77028624
PSTPIP1not specifiedLikely benign
(Oct 19, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr15:77321870-77321871
GRCh38:
Chr15:77029529-77029530
PSTPIP1not providedLikely pathogenic
(Mar 27, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr15:77321908
GRCh38:
Chr15:77029567
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedConflicting interpretations of pathogenicity
(Dec 15, 2017)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr15:77321911
GRCh38:
Chr15:77029570
PSTPIP1not specifiedLikely benign
(Dec 2, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr15:77322834
GRCh38:
Chr15:77030493
PSTPIP1not specifiedLikely benign
(Aug 4, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr15:77322835
GRCh38:
Chr15:77030494
PSTPIP1not specifiedBenign
(Jul 6, 2011)
criteria provided, single submitter
26.
GRCh37:
Chr15:77322844
GRCh38:
Chr15:77030503
PSTPIP1not specifiedLikely benign
(Dec 16, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr15:77322938
GRCh38:
Chr15:77030597
PSTPIP1not specifiedBenign
(Nov 29, 2012)
criteria provided, single submitter
28.
GRCh37:
Chr15:77323508
GRCh38:
Chr15:77031167
PSTPIP1not specifiedBenign
(Sep 18, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr15:77323535
GRCh38:
Chr15:77031194
PSTPIP1not specifiedLikely benign
(Mar 8, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr15:77323535
GRCh38:
Chr15:77031194
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign/Likely benign
(Aug 2, 2017)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:77323553
GRCh38:
Chr15:77031212
PSTPIP1not specifiedLikely benign
(Nov 14, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr15:77323565
GRCh38:
Chr15:77031224
PSTPIP1not specifiedLikely benign
(Nov 23, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr15:77323566
GRCh38:
Chr15:77031225
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not providedPathogenic
(Jan 31, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr15:77324644
GRCh38:
Chr15:77032303
PSTPIP1not specifiedBenign
(Apr 4, 2012)
criteria provided, single submitter
35.
GRCh37:
Chr15:77324645
GRCh38:
Chr15:77032304
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not providedPathogenic
(Sep 6, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr15:77324661
GRCh38:
Chr15:77032320
PSTPIP1not specifiedUncertain significance
(Mar 28, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr15:77324683
GRCh38:
Chr15:77032342
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr15:77324689
GRCh38:
Chr15:77032348
PSTPIP1not specifiedLikely benign
(Nov 2, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr15:77324696
GRCh38:
Chr15:77032355
PSTPIP1not specifiedUncertain significance
(Oct 19, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr15:77324734
GRCh38:
Chr15:77032393
PSTPIP1not specifiedLikely benign
(Dec 2, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr15:77324734
GRCh38:
Chr15:77032393
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign/Likely benign
(Jun 13, 2017)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr15:77324745
GRCh38:
Chr15:77032404
PSTPIP1not specifiedLikely benign
(Apr 29, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr15:77324752
GRCh38:
Chr15:77032411
PSTPIP1not specifiedLikely benign
(May 8, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr15:77324766
GRCh38:
Chr15:77032425
PSTPIP1not specifiedLikely benign
(Jul 7, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr15:77325191
GRCh38:
Chr15:77032850
PSTPIP1not specifiedLikely benign
(Apr 24, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr15:77325199
GRCh38:
Chr15:77032858
PSTPIP1not specifiedLikely benign
(May 25, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr15:77325203
GRCh38:
Chr15:77032862
PSTPIP1not specifiedUncertain significance
(May 21, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr15:77325220
GRCh38:
Chr15:77032879
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedUncertain significance
(Aug 5, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:77325246
GRCh38:
Chr15:77032905
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedLikely benign
(Mar 13, 2017)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr15:77325272
GRCh38:
Chr15:77032931
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign/Likely benign
(May 11, 2017)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr15:77325310
GRCh38:
Chr15:77032969
PSTPIP1not specifiedBenign
(Jul 2, 2013)
criteria provided, single submitter
52.
GRCh37:
Chr15:77327910
GRCh38:
Chr15:77035569
PSTPIP1not specifiedBenign
(Nov 21, 2011)
criteria provided, single submitter
53.
GRCh37:
Chr15:77328171
GRCh38:
Chr15:77035830
PSTPIP1not specifiedLikely benign
(Aug 31, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr15:77328211
GRCh38:
Chr15:77035870
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedLikely benign
(Dec 18, 2017)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr15:77328269
GRCh38:
Chr15:77035928
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign/Likely benign
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr15:77328272
GRCh38:
Chr15:77035931
PSTPIP1not specifiedUncertain significance
(Sep 28, 2017)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:77328273
GRCh38:
Chr15:77035932
PSTPIP1not specifiedBenign
(Dec 9, 2011)
criteria provided, single submitter
58.
GRCh37:
Chr15:77329410
GRCh38:
Chr15:77037069
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedBenign/Likely benign
(Jan 3, 2018)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr15:77329417
GRCh38:
Chr15:77037076
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedConflicting interpretations of pathogenicity
(Jul 7, 2017)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr15:77329448
GRCh38:
Chr15:77037107
PSTPIP1not specifiedBenign
(Aug 6, 2012)
criteria provided, single submitter
61.
GRCh37:
Chr15:77329472
GRCh38:
Chr15:77037131
PSTPIP1not specifiedBenign
(Dec 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr15:77329473
GRCh38:
Chr15:77037132
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedConflicting interpretations of pathogenicity
(Sep 22, 2017)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr15:77329474
GRCh38:
Chr15:77037133
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedUncertain significance
(Feb 10, 2017)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:77329479
GRCh38:
Chr15:77037138
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedConflicting interpretations of pathogenicity
(Jun 15, 2017)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr15:77329487
GRCh38:
Chr15:77037146
PSTPIP1Pyogenic arthritis, pyoderma gangrenosum and acne, not specifiedLikely benign
(Sep 20, 2017)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr15:77329488
GRCh38:
Chr15:77037147
PSTPIP1not specifiedUncertain significance
(May 8, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr15:74368270-78122737
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr15:64637227-102509910
ACAN, ALDH1A3, ANPEP, BBS4, BCL2A1, BLM, BNC1, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, NR2F2, TLE3, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, PSTPIP1, PRC1, SLC28A1, SLC24A1, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESD, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, SLCO3A1, SCAPER, RASL12, SPG21, NGRN, RHCG, HACD3, BTBD1, TM6SF1, CSNK1G1, ZFAND6, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, LRRK1, AAGAB, LMAN1L, PEAK1, THSD4, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, ADPGK, RAMMET, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, CALML4, ARRDC4, UBE2Q2, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LYSMD4, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2A, LCTL, CERS3, SPESP1, SNX33, REC114, SAXO2, LINC00928, FAM169B, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C15orf59, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, MIR184, MIR9-3, CPLX3, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, GOLGA6L3, C15orf38-AP3S2, ST20-MTHFS
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
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