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Items: 42

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:525-14667519
GRCh38:
Chr17:150732-14764202
ABR, ABR-AS1, ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12-AS1, ALOX12B, ALOX15, ALOX15B, ALOXE3, ANKFY1, ARHGAP44, ARHGAP44-AS1, ARHGEF15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, AURKB, BCL6B, BHLHA9, BORCS6, C17orf100, C17orf107, C17orf49, C17orf97, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC42, CCDC92B, CD68, CDRT15, CFAP52, CHD3, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CNTROB, COX10, COX10-DT, CRK, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, CYB5D2, DERL2, DHRS7C, DHX33, DHX33-DT, DLG4, DNAH2, DNAH9, DOC2B, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ELAC2, ELP5, EMC6, ENO3, FBXO39, FGF11, FXR2, GABARAP, GAS7, GEMIN4, GGT6, GLOD4, GLP2R, GLTPD2, GP1BA, GPS2, GSG1L2, GUCY2D, HASPIN, HES7, HIC1, HS3ST3A1, HS3ST3B1, INCA1, INPP5K, ITGAE, KCNAB3, KCTD11, KDM6B, KIAA0753, KIF1C, KIF1C-AS1, KRBA2, LINC00324, LINC00670, LINC01975, LINC01996, LINC02091, LINC02093, LOC100128288, LOC100288728, LOC100996842, LOC101927727, LOC101927839, LOC101927911, LOC101928266, LOC105371430, LOC105371485, LOC105371592, LOC105943586, LOC106794092, LOC106799838, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC110121380, LOC111413025, LOC111556120, LOC111828490, LOC112529892, LOC112529893, LOC112529894, LOC112529895, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454, LOC284009, LOC339166, LOC728392, MAP2K4, MED11, MED31, METTL16, MFSD6L, MGC12916, MINK1, MIR1253, MIR1269B, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4314, MIR4520-1, MIR4520-2, MIR4521, MIR497, MIR497HG, MIR548H3, MIR6776, MIR6864, MIR6865, MIR6883, MIR744, MIS12, MNT, MPDU1, MRM3, MYBBP1A, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYHAS, MYO1C, MYOCD, MYOCD-AS1, NAA38, NCBP3, NDEL1, NEURL4, NLGN2, NLRP1, NTN1, NUP88, NXN, ODF4, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PER1, PFAS, PFN1, PHF23, PIK3R5, PIK3R5-DT, PIK3R6, PIMREG, PIRT, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RANGRF, RAP1GAP2, RCVRN, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RNF222, RNF227, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RPL26, RTN4RL1, SAT2, SCARF1, SCARNA21, SCIMP, SCO1, SENP3, SENP3-EIF4A1, SERPINF1, SERPINF2, SGSM2, SHBG, SHISA6, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC25A35, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORA48, SNORA67, SNORD10, SNORD118, SNORD91A, SNORD91B, SOX15, SPAG7, SPATA22, SPDYE4, SPEM1, SPEM2, SPEM3, SPNS2, SPNS3, SRR, STX8, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM107, TMEM220, TMEM220-AS1, TMEM238L, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRARG1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRPV1, TRPV3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, TSR1, TXNDC17, UBE2G1, USP43, USP6, VAMP2, VMO1, VPS53, WDR81, WRAP53, WSCD1, XAF1, YBX2, ZNF232-AS1, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF18, ZNF232, ZNF594, ZNF594-DT, ZZEF1
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000154089
2.
GRCh37:
Chr17:45835-12247218
GRCh38:
Chr17:162016-12343901
ABR, ABR-AS1, ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12-AS1, ALOX12B, ALOX15, ALOX15B, ALOXE3, ANKFY1, ARHGEF15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, AURKB, BCL6B, BHLHA9, BORCS6, C17orf100, C17orf107, C17orf49, C17orf97, C1QBP, CAMKK1, CAMTA2, CAMTA2-AS1, CCDC42, CCDC92B, CD68, CFAP52, CHD3, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CNTROB, CRK, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, CYB5D2, DERL2, DHRS7C, DHX33, DHX33-DT, DLG4, DNAH2, DNAH9, DOC2B, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, EMC6, ENO3, FBXO39, FGF11, FXR2, GABARAP, GAS7, GEMIN4, GGT6, GLOD4, GLP2R, GLTPD2, GP1BA, GPS2, GSG1L2, GUCY2D, HASPIN, HES7, HIC1, INCA1, INPP5K, ITGAE, KCNAB3, KCTD11, KDM6B, KIAA0753, KIF1C, KIF1C-AS1, KRBA2, LINC00324, LINC01975, LINC01996, LINC02091, LOC100128288, LOC100288728, LOC100996842, LOC101927727, LOC101927839, LOC101927911, LOC101928266, LOC105371430, LOC105371485, LOC105371592, LOC106794092, LOC106799838, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC111828490, LOC112529892, LOC112529893, LOC112529894, LOC112529895, LOC112529901, LOC112529915, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454, LOC284009, LOC339166, LOC728392, MAP2K4, MED11, MED31, METTL16, MFSD6L, MINK1, MIR1253, MIR132, MIR195, MIR212, MIR22, MIR22HG, MIR3183, MIR324, MIR4314, MIR4520-1, MIR4520-2, MIR4521, MIR497, MIR497HG, MIR6776, MIR6864, MIR6865, MIR6883, MIR744, MIS12, MNT, MPDU1, MRM3, MYBBP1A, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYHAS, MYO1C, NAA38, NCBP3, NDEL1, NEURL4, NLGN2, NLRP1, NTN1, NUP88, NXN, ODF4, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR1R1P, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, PELP1, PELP1-DT, PER1, PFAS, PFN1, PHF23, PIK3R5, PIK3R5-DT, PIK3R6, PIMREG, PIRT, PITPNA, PITPNA-AS1, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RANGRF, RAP1GAP2, RCVRN, RFLNB, RILP, RNASEK, RNASEK-C17orf49, RNF167, RNF222, RNF227, RPA1, RPAIN, RPH3AL, RPH3AL-AS1, RPL26, RTN4RL1, SAT2, SCARF1, SCARNA21, SCIMP, SCO1, SENP3, SENP3-EIF4A1, SERPINF1, SERPINF2, SGSM2, SHBG, SHISA6, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC25A35, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SNORA48, SNORA67, SNORD10, SNORD118, SNORD91A, SNORD91B, SOX15, SPAG7, SPATA22, SPDYE4, SPEM1, SPEM2, SPEM3, SPNS2, SPNS3, SRR, STX8, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM107, TMEM220, TMEM220-AS1, TMEM238L, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRARG1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRPV1, TRPV3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, TSR1, TXNDC17, UBE2G1, USP43, USP6, VAMP2, VMO1, VPS53, WDR81, WRAP53, WSCD1, XAF1, YBX2, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF18, ZNF232, ZNF232-AS1, ZNF594, ZNF594-DT, ZZEF1
See casesPathogenic
(Aug 27, 2012)
no assertion criteria providedVCV000149531
3.
GRCh37:
Chr17:5636273-11998666
GRCh38:
Chr17:5732953-12095349
ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12-AS1, ALOX12B, ALOX15B, ALOXE3, ARHGEF15, ASGR1, ASGR2, ATP1B2, AURKB, BCL6B, BORCS6, C17orf100, C17orf49, CCDC42, CD68, CFAP52, CHD3, CHRNB1, CLDN7, CLEC10A, CNTROB, CTC1, CTDNEP1, CYB5D1, DHRS7C, DLG4, DNAH2, DNAH9, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GAS7, GLP2R, GPS2, GSG1L2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, KIAA0753, KRBA2, LINC00324, LOC100128288, LOC100996842, LOC101928266, LOC106794092, LOC108254670, LOC111556120, LOC111828490, LOC112529894, LOC112529895, LOC112533656, LOC112533657, LOC112533664, LOC112533665, LOC112533683, LOC112533684, LOC112533685, LOC114827863, LOC116276454, LOC339166, MAP2K4, MED31, MFSD6L, MIR195, MIR324, MIR4314, MIR4520-1, MIR4520-2, MIR4521, MIR497, MIR497HG, MIR6883, MIR744, MPDU1, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYHAS, NAA38, NDEL1, NEURL4, NLGN2, NTN1, ODF4, PER1, PFAS, PHF23, PIK3R5, PIK3R5-DT, PIK3R6, PIMREG, PIRT, PITPNM3, PLSCR3, POLR2A, RANGRF, RCVRN, RNASEK, RNASEK-C17orf49, RNF222, RNF227, RPL26, SAT2, SCARNA21, SCO1, SENP3, SENP3-EIF4A1, SHBG, SHISA6, SLC13A5, SLC16A11, SLC16A13, SLC25A35, SLC2A4, SLC35G6, SNORA48, SNORA67, SNORD10, SNORD118, SOX15, SPDYE4, SPEM1, SPEM2, SPEM3, STX8, TEKT1, TMEM102, TMEM107, TMEM220, TMEM220-AS1, TMEM238L, TMEM256, TMEM256-PLSCR3, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, TXNDC17, USP43, VAMP2, WRAP53, WSCD1, XAF1, YBX2, ZBTB4, ZNF18
See casesPathogenic
(Sep 30, 2010)
no assertion criteria providedVCV000145484
4.
GRCh37:
Chr17:7871030-8393597
GRCh38:
Chr17:7967712-8490279
See casesUncertain significance
(Sep 27, 2013)
no assertion criteria providedVCV000152524
5.
GRCh37:
Chr17:8379161
GRCh38:
Chr17:8475843
MYH10not providedBenign
(Nov 15, 2018)
criteria provided, single submitterVCV000712206
6.
GRCh37:
Chr17:8380201
GRCh38:
Chr17:8476883
MYH10R1958W, R1927W, R1936Wnot providedUncertain significance
(Nov 9, 2017)
criteria provided, single submitterVCV000618226
7.
GRCh37:
Chr17:8381651
GRCh38:
Chr17:8478333
MYH10not providedLikely benign
(May 21, 2018)
criteria provided, single submitterVCV000745663
8.
GRCh37:
Chr17:8381652
GRCh38:
Chr17:8478334
MYH10not providedBenign
(Jul 16, 2018)
criteria provided, single submitterVCV000770441
9.
GRCh37:
Chr17:8381681
GRCh38:
Chr17:8478363
MYH10R1863Q, R1872Q, R1873Q, R1894QNeurodevelopmental abnormality, Global developmental delayUncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV000983383
10.
GRCh37:
Chr17:8383838
GRCh38:
Chr17:8480520
MYH10A1736V, A1726V, A1735V, A1757Vnot providedLikely benign
(May 21, 2018)
criteria provided, single submitterVCV000745664
11.
GRCh37:
Chr17:8384669
GRCh38:
Chr17:8481351
MYH10not providedBenign
(Aug 2, 2017)
criteria provided, single submitterVCV000710457
12.
GRCh37:
Chr17:8387438-8387439
GRCh38:
Chr17:8484120-8484121
MYH10not providedBenign
(Apr 2, 2021)
criteria provided, single submitterVCV001181228
13.
GRCh37:
Chr17:8390733
GRCh38:
Chr17:8487415
MYH10not providedBenign
(Dec 10, 2020)
criteria provided, single submitterVCV001256834
14.
GRCh37:
Chr17:8390869
GRCh38:
Chr17:8487551
MYH10R1612Q, R1621Q, R1622Q, R1643Qnot providedUncertain significance
(Jan 1, 2021)
criteria provided, single submitterVCV001013379
15.
GRCh37:
Chr17:8390883
GRCh38:
Chr17:8487565
MYH10not providedLikely benign
(Apr 25, 2018)
criteria provided, single submitterVCV000618228
16.
GRCh37:
Chr17:8392153
GRCh38:
Chr17:8488835
MYH10not providedBenign
(Jun 7, 2019)
criteria provided, single submitterVCV001281424
17.
GRCh37:
Chr17:8393797
GRCh38:
Chr17:8490479
MYH10L1560P, L1551P, L1582P, L1561Pnot providedUncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000872122
18.
GRCh37:
Chr17:8395781
GRCh38:
Chr17:8492463
MYH10R1502P, R1480P, R1471PCongenital ptosis, Midface retrusion, Epicanthus inversus,
Congenital ocular coloboma, Hypertelorism, Wide nose,
Abnormal facial shape, Congenital ptosis, Midface retrusion,
Epicanthus inversus, HypertelorismWide nose,
Abnormal facial shape, ...see more
Pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV000625873
19.
GRCh37:
Chr17:8409701
GRCh38:
Chr17:8506383
MYH10not specifiedLikely benign
(Nov 13, 2018)
criteria provided, single submitterVCV000811078
20.
GRCh37:
Chr17:8409746
GRCh38:
Chr17:8506428
MYH10D1092E, D1061E, D1070Enot providedUncertain significance
(Dec 8, 2017)
criteria provided, single submitterVCV000618227
21.
GRCh37:
Chr17:8415906
GRCh38:
Chr17:8512588
MYH10E908*, E939*, E917*Inborn genetic diseasesPathogenic
(Oct 1, 2012)
criteria provided, single submitterVCV000208680
22.
GRCh37:
Chr17:8416879
GRCh38:
Chr17:8513561
MYH10E908*, E877*, E886*not providedUncertain significance
(Dec 1, 2014)
no assertion criteria providedVCV000167869
23.
GRCh37:
Chr17:8416922
GRCh38:
Chr17:8513604
MYH10not providedBenign
(Jul 4, 2018)
criteria provided, single submitterVCV000756434
24.
GRCh37:
Chr17:8424503
GRCh38:
Chr17:8521185
MYH10not providedBenign
(Oct 9, 2018)
criteria provided, single submitterVCV000715691
25.
GRCh37:
Chr17:8434007-8434008
GRCh38:
Chr17:8530689-8530690
MYH10not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000717057
26.
GRCh37:
Chr17:8434012-8434014
GRCh38:
Chr17:8530694-8530696
MYH10not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000717058
27.
GRCh37:
Chr17:8445443
GRCh38:
Chr17:8542125
MYH10not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000777129
28.
GRCh37:
Chr17:8455445
GRCh38:
Chr17:8552127
MYH10R280C, R270C, R279Cnot providedUncertain significance
(Oct 1, 2014)
no assertion criteria providedVCV000167870
29.
GRCh37:
Chr17:8473071
GRCh38:
Chr17:8569753
MYH10not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000717431
30.
GRCh37:
Chr17:8480587
GRCh38:
Chr17:8577269
MYH10not providedLikely benign
(Jul 13, 2018)
criteria provided, single submitterVCV000742094
31.
GRCh37:
Chr17:12344-81057996
OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, PFN1, PHB, PITPNA, PLD2, SERPINF2, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, PMP22, PNMT, SEPTIN4, POLR2A, MED1, PPY, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, TMEM235, CCDC57, HEXD, VMO1, C17orf58, MILR1, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, RAD51C, RAD51D, RARA, RCVRN, RFNG, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, VAMP2, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, TADA2A, TBCD, TBX2, HNF1B, MLX, KLHL10, RAB37, TMEM95, METTL2A, C17orf67, ENPP7, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, OXLD1, CCDC137, ARL16, LINC02693, MSL1, CD300E, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, TRPV1, VTN, WNT3, WNT9B, YWHAE, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, RPRML, YPEL2, LINC02875, BTBD17, ARL5C, KRT39, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, TMEM132E-DT, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXD-IT1, ARL17B, LINC02876, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, PTGES3L-AARSD1, DYNLL2-DT, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPTIN9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29P, TANC2, WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, HROB, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, TLCD3A, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, ODAD4, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, COX11, CPD, CLDN7, CRHR1, CRK, CRYBA1, CSF3, CSH1, CSH2, CSHL1, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CBX2, TXNDC17, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, CSNK1D, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC1, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, TMEM88, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, H3-3B, HCRT, HIC1, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, CD300LD-AS1, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, KRT10-AS1, ANKFN1, MARCHF10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, SLC16A13, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000602689
32.
GRCh37:
Chr17:8547-81060040
RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, TLCD3A, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, ODAD4, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, CBX2, TXNDC17, FAM104A, CORO6, TNS4, FBXL20, COX11, CPD, CLDN7, CRHR1, CRK, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC1, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, H3-3B, HCRT, HIC1, HLF, HOXB1, HOXB2, SLFN11, RASL10B, ATPAF2, TMEM88, STRADA, PRR29, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, PFN1, PHB, PITPNA, PLD2, SERPINF2, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, PMP22, PNMT, SEPTIN4, POLR2A, MED1, PPY, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, RAD51C, RAD51D, RARA, RCVRN, RFNG, CD300LD-AS1, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, KRT10-AS1, ANKFN1, MARCHF10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, SLC16A13, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, VAMP2, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, TRPV1, VTN, WNT3, WNT9B, YWHAE, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXD, VMO1, C17orf58, MILR1, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, KLHL10, RAB37, TMEM95, METTL2A, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, LINC02693, MSL1, CD300E, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, RPRML, YPEL2, LINC02875, BTBD17, ARL5C, KRT39, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, TMEM132E-DT, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPTIN9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXD-IT1, ARL17B, LINC02876, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, PTGES3L-AARSD1, DYNLL2-DT, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29P, TANC2, WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, HROB, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000602688
33.
GRCh37:
Chr17:7214-81058310
WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, HROB, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, TLCD3A, DCAKD, GGNBP2, NUP85, ATAD5, AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, ODAD4, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, COX11, CPD, CLDN7, CRHR1, CRK, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CBX2, TXNDC17, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, TMEM88, STRADA, PRR29, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC1, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, H3-3B, HCRT, HIC1, HLF, HOXB1, HOXB2, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, CD300LD-AS1, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, KRT10-AS1, ANKFN1, MARCHF10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, SLC16A13, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, PFN1, PHB, PITPNA, PLD2, SERPINF2, PMP22, PNMT, SEPTIN4, POLR2A, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RCVRN, RFNG, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXD, VMO1, C17orf58, MILR1, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, KLHL10, RAB37, TMEM95, METTL2A, C17orf67, ENPP7, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, VAMP2, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, OXLD1, CCDC137, ARL16, LINC02693, MSL1, CD300E, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, TRPV1, VTN, WNT3, WNT9B, YWHAE, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, RPRML, YPEL2, LINC02875, BTBD17, ARL5C, KRT39, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, TMEM132E-DT, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, TBC1D3, TBC1D3H, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPTIN9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXD-IT1, ARL17B, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, LINC02876, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, PTGES3L-AARSD1, DYNLL2-DT, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29P, TANC2
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000602684
34.
GRCh37:
Chr17:8412394-8729543
MYH10, CCDC42, PIK3R6, MFSD6L, SPDYE4not providedUncertain significance
(Sep 18, 2017)
no assertion criteria providedVCV000564397
35.
GRCh37:
Chr17:8219814-8676240
MYH10, RPL26, ARHGEF15, NDEL1, KRBA2, CCDC42, ODF4, SPDYE4, RNF222not providedUncertain significance
(Jun 8, 2017)
no assertion criteria providedVCV000564396
36.
GRCh37:
Chr17:525-11186432
ABR, ACADVL, ALOX12, ALOX12B, ALOX15, ALOX15B, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, C1QBP, CD68, CHD3, CHRNB1, CHRNE, CLDN7, CRK, CTNS, DLG4, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, FGF11, GP1BA, GPS2, GUCY2D, HIC1, ITGAE, MNT, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYO1C, NUP88, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, PAFAH1B1, SERPINF1, PER1, PFAS, PFN1, PITPNA, PLD2, SERPINF2, POLR2A, PSMB6, RCVRN, RPA1, RPL26, SCO1, SHBG, SLC2A4, SOX15, VAMP2, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, UBE2G1, TRPV1, YWHAE, ZNF232, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, SLC25A11, DOC2B, GAS7, SCARF1, TNK1, MYH13, TNFSF13, TNFSF12, TM4SF5, USP6, RABEP1, KCNAB3, AURKB, GLP2R, NTN1, STX8, RPH3AL, FXR2, MPDU1, SPAG7, ACAP1, KIAA0753, SGSM2, CLEC10A, MYBBP1A, PRPF8, KIF1C, GABARAP, NLRP1, ARHGEF15, RAP1GAP2, CAMTA2, KDM6B, ZZEF1, CLUH, SMG6, WSCD1, CTDNEP1, PIK3R5, ELP5, SHPK, AIPL1, RNF167, SENP3, OR1A2, PELP1, RANGRF, TIMM22, TAX1BP3, MINK1, GEMIN4, MED31, DERL2, GLOD4, YBX2, ANKFY1, INPP5K, PIMREG, XAF1, BORCS6, SLC52A1, WRAP53, MRM3, VPS53, NCBP3, TSR1, DHX33, ADPRM, PLSCR3, NLGN2, ZBTB4, CXCL16, TRAPPC1, ALOXE3, SRR, NXN, MIS12, METTL16, PHF23, TLCD3A, CTC1, NDEL1, PITPNM3, EMC6, RILP, TEKT1, HASPIN, ZMYND15, CAMKK1, RPAIN, TMEM107, NAA38, NEURL4, ZNF594, HES7, SPATA22, TXNDC17, TMEM88, SAT2, SMYD4, CNTROB, CYB5D1, OVCA2, USP43, KRBA2, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, WDR81, DNAH2, RTN4RL1, CFAP52, CCDC42, PIK3R6, ODF4, KCTD11, MFSD6L, TRPV3, SLC16A11, FBXO39, DHRS7C, SLC16A13, SPEM2, SPNS3, TMEM256, BCL6B, VMO1, SLC13A5, TMEM102, TRARG1, TMEM95, SMTNL2, RFLNB, SPEM1, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, SLC25A35, C17orf97, MED11, MIR132, MIR195, MIR212, MIR22, TNFSF12-TNFSF13, RNASEK, SLC35G6, RNF222, PIRT, BHLHA9, TLCD2, C17orf107, LOC100288728, MIR497HG
not providedPathogenic
(Oct 2, 2017)
no assertion criteria providedVCV000564377
37.
GRCh37:
Chr17:525-15027737
ABR, ACADVL, ACAP1, ADPRM, AIPL1, ALOX12, ALOX12B, ALOX15, ALOX15B, ALOXE3, ANKFY1, ARHGAP44, ARHGEF15, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, AURKB, BCL6B, BHLHA9, BORCS6, C17orf100, C17orf107, C17orf49, C17orf97, C1QBP, CAMKK1, CAMTA2, CCDC42, CD68, CDRT15, CFAP52, CHD3, CHRNB1, CHRNE, CLDN7, CLEC10A, CLUH, CNTROB, COX10, CRK, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, CYB5D2, DERL2, DHRS7C, DHX33, DLG4, DNAH2, DNAH9, DOC2B, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ELAC2, ELP5, EMC6, ENO3, FBXO39, FGF11, FXR2, GABARAP, GAS7, GEMIN4, GGT6, GLOD4, GLP2R, GLTPD2, GP1BA, GPS2, GUCY2D, HASPIN, HES7, HIC1, HS3ST3A1, HS3ST3B1, INCA1, INPP5K, ITGAE, KCNAB3, KCTD11, KDM6B, KIAA0753, KIF1C, KRBA2, LOC100288728, MAP2K4, MED11, MED31, METTL16, MFSD6L, MINK1, MIR132, MIR195, MIR212, MIR22, MIR497HG, MIS12, MNT, MPDU1, MRM3, MYBBP1A, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO1C, MYOCD, NAA38, NCBP3, NDEL1, NEURL4, NLGN2, NLRP1, NTN1, NUP88, NXN, ODF4, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, PAFAH1B1, PELP1, PER1, PFAS, PFN1, PHF23, PIK3R5, PIK3R6, PIMREG, PIRT, PITPNA, PITPNM3, PLD2, PLSCR3, POLR2A, PRPF8, PSMB6, RABEP1, RANGRF, RAP1GAP2, RCVRN, RFLNB, RILP, RNASEK, RNF167, RNF222, RPA1, RPAIN, RPH3AL, RPL26, RTN4RL1, SAT2, SCARF1, SCIMP, SCO1, SENP3, SERPINF1, SERPINF2, SGSM2, SHBG, SHISA6, SHPK, SLC13A5, SLC16A11, SLC16A13, SLC25A11, SLC25A35, SLC2A4, SLC35G6, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SOX15, SPAG7, SPATA22, SPDYE4, SPEM1, SPEM2, SPNS2, SPNS3, SRR, STX8, TAX1BP3, TEKT1, TIMM22, TLCD2, TLCD3A, TM4SF5, TMEM102, TMEM107, TMEM220, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRARG1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRPV1, TRPV3, TRQ-CTG1-5, TRR-TCT2-1, TSR1, TXNDC17, UBE2G1, USP43, USP6, VAMP2, VMO1, VPS53, WDR81, WRAP53, WSCD1, XAF1, YBX2, YWHAE, ZBTB4, ZFP3, ZMYND15, ZNF18, ZNF232, ZNF594, ZZEF1
See casesPathogenic
(Nov 12, 2013)
no assertion criteria providedVCV000443659
38.
GRCh37:
Chr17:7431013-9868179
See casesUncertain significance
(Oct 22, 2014)
no assertion criteria providedVCV000442648
39.
GRCh37:
Chr17:526-81041938
ACOX1, ACSF2, C17orf99, C1QBP, C1QL1, C1QTNF1, COX11, CPD, FAM83G, FASN, FOXJ1, FOXK2, FOXN1, FSCN2, FTSJ3, FXR2, FBXO39, FBXO47, FZD2, G6PC1, G6PC3, FBXW10, FBF1, FBXL20, CTC1, CTDNEP1, CTNS, CUEDC1, CWC25, CSNK1D, CXCL16, CYB561, FDXR, FGF11, FKBP10, CSH1, CSH2, FNDC8, CPSF4L, CBX4, CBX8, CCDC103, CA10, CA4, CSHL1, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CAMKK1, CAMTA2, CANT1, ADORA2B, AKAP1, CACNA1G, ACTG1, ADAM11, ADAP2, ADPRM, AFMID, AIPL1, AKAP10, ALDH3A1, ALDH3A2, AANAT, AARSD1, AATF, AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, ACACA, ACADVL, ACAP1, ACBD4, ACE, ACLY, ALDOC, ALKBH5, ALOX12, ALOX12B, ALOX15, ALOX15B, ALOXE3, ALYREF, AMZ2, ANAPC11, ANKFN1, ANKFY1, ANKRD13B, ANKRD40, AOC2, AOC3, AP2B1, APOH, APPBP2, ARHGAP23, ARHGAP27, ARHGAP44, ARHGDIA, ARHGEF15, ARL16, ARL17A, ARL17B, ARL4D, ARL5C, ARMC7, ARRB2, ARSG, ASB16, ASGR1, ASGR2, ASIC2, ASPA, ASPSCR1, ATAD5, ATP1B2, ATP2A3, ATP5MC1, ATP5PD, ATP6V0A1, ATPAF2, ATXN7L3, AURKB, AXIN2, B3GNTL1, B4GALNT2, B9D1, BAHCC1, BAIAP2, BCAS3, BCL6B, BECN1, BHLHA9, BIRC5, BLMH, BORCS6, BPTF, BRCA1, BRIP1, BTBD17, C17orf100, C17orf107, C17orf47, C17orf49, C17orf50, C17orf58, C17orf64, C17orf67, C17orf75, C17orf78, C17orf80, C17orf97, C17orf98, CARD14, CASC3, CASKIN2, CAVIN1, CBX1, CBX2, CCDC137, CCDC144A, CCDC40, CCDC42, CCDC43, CCDC47, CCDC57, CCL1, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL2, CCL23, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, CCL5, CCL7, CCL8, CCR10, CCR7, CCT6B, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD300LG, CD68, CD7, CD79B, CDC27, CDC42EP4, CDC6, CDK12, CDK3, CDK5R1, CDK5RAP3, CDR2L, CDRT1, CDRT15, CDRT15L2, CDRT4, CENPV, CENPX, CEP112, CEP131, CEP95, CFAP52, CFAP97D1, CHAD, CHD3, CHMP6, CHRNB1, CHRNE, CISD3, CLDN7, CLEC10A, CLTC, CLUH, CNP, CNTD1, CNTNAP1, CNTROB, COA3, COASY, COG1, COIL, COL1A1, COPRS, COPS3, COPZ2, CORO6, COX10, CRHR1, CRK, CRLF3, CRYBA1, CSF3, CYB5D1, CYB5D2, CYBC1, CYGB, CYTH1, DBF4B, DCAF7, DCAKD, DCXR, DDX42, DDX5, DDX52, DERL2, DGKE, DHRS11, DHRS13, DHRS7B, DHRS7C, DHX33, DHX40, DHX58, DHX8, DLG4, DLX3, DLX4, DNAH17, DNAH2, DNAH9, DNAI2, DNAJC7, DOC2B, DPH1, DRC3, DRG2, DUS1L, DUSP14, DUSP3, DVL2, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB3, EFCAB5, EFNB3, EFTUD2, EIF1, EIF4A1, EIF4A3, EIF5A, ELAC2, ELP5, EMC6, EME1, ENDOV, ENGASE, ENO3, ENPP7, EPN2, EPN3, EPOP, EPX, ERAL1, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EVPLL, EXOC7, EZH1, FAAP100, FADS6, FAM104A, FAM117A, FAM171A2, FAM20A, FAM222B, FLCN, FLII, FLOT2, FMNL1, FN3K, FN3KRP, GAA, GABARAP, GALK1, GALR2, GAS2L2, GAS7, GAST, GCGR, GDPD1, GEMIN4, GFAP, GGA3, GGNBP2, GGT6, GH1, GH2, GHDC, GID4, GIP, GIT1, GJC1, GJD3, GLOD4, GLP2R, GLTPD2, GNA13, GNGT2, GOSR1, GOSR2, GP1BA, GPATCH8, GPR142, GPR179, GPRC5C, GPS1, GPS2, GRAP, GRAPL, GRB2, GRB7, GRIN2C, GRN, GSDMA, GSDMB, GUCY2D, H3-3B, HAP1, HASPIN, HCRT, HDAC5, HEATR6, HEATR9, HELZ, HES7, HEXD, HEXD-IT1, HEXIM1, HEXIM2, HGS, HIC1, HID1, HIGD1B, HLF, HNF1B, HOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HROB, HS3ST3A1, HS3ST3B1, HSD17B1, HSF5, HSPB9, ICAM2, IFI35, IFT20, IGF2BP1, IGFBP4, IKZF3, INCA1, INPP5K, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JMJD6, JPT1, JUP, KANSL1, KAT2A, KAT7, KCNAB3, KCNH4, KCNH6, KCNJ12, KCNJ16, KCNJ2, KCTD11, KCTD2, KDM6B, KIAA0100, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KRBA2, KRT10, KRT10-AS1, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP16-1, KRTAP17-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, KSR1, LASP1, LGALS3BP, LGALS9, LGALS9B, LGALS9C, LHX1, LIG3, LIMD2, LINC02693, LINC02875, LINC02876, LLGL1, LLGL2, LOC100288728, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC37B, LRRC3C, LRRC45, LRRC46, LRRC59, LRRC75A, LSM12, LUC7L3, LYRM9, LYZL6, MAFG, MAP2K3, MAP2K4, MAP2K6, MAP3K14, MAP3K3, MAPK7, MAPT, MARCHF10, MBTD1, MCRIP1, MED1, MED11, MED13, MED24, MED31, MED9, MEIOC, MEOX1, METRNL, METTL16, METTL23, METTL2A, MFAP4, MFSD11, MFSD6L, MGAT5B, MIEF2, MIEN1, MIF4GD, MILR1, MINK1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, MIR338, MIR33B, MIR451A, MIR497HG, MIS12, MKS1, MLLT6, MLX, MMD, MMP28, MNT, MPDU1, MPO, MPP2, MPP3, MPRIP, MRC2, MRM1, MRM3, MRPL10, MRPL12, MRPL27, MRPL38, MRPL45, MRPL58, MRPS23, MRPS7, MSI2, MSL1, MTMR4, MTRNR2L1, MXRA7, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYL4, MYO15A, MYO18A, MYO19, MYO1C, MYO1D, MYOCD, NAA38, NACA2, NAGLU, NAGS, NARF, NAT9, NATD1, NBR1, NBR2, NCBP3, NCOR1, NDEL1, NDUFAF8, NEK8, NEURL4, NEUROD2, NF1, NFE2L1, NGFR, NKIRAS2, NLE1, NLGN2, NLK, NLRP1, NME1, NME1-NME2, NME2, NMT1, NOG, NOL11, NOS2, NOTUM, NPB, NPEPPS, NPLOC4, NPTX1, NR1D1, NSF, NSRP1, NT5C, NT5C3B, NT5M, NTN1, NUFIP2, NUP85, NUP88, NXN, NXPH3, ODAD4, ODF4, OGFOD3, OMG, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2,