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Results: 1 to 20 of 26

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
PNPnot providedGMAF:0.20450(T)Benign
(Jan 7, 2013)
classified by single submitter1420472467
2.
PNPnot providedGMAF:0.17210(T)Benign
(Jan 7, 2013)
classified by single submitter1420472356
3.
PNPnot providedGMAF:0.00580(T)Benign
(Jan 31, 2013)
classified by single submitter1420472290
4.
PNPPurine-nucleoside phosphorylase deficiencyPathogenic
(Oct 4, 2013)
classified by single submitter1420475120
5.
PNPPurine-nucleoside phosphorylase deficiencyPathogenic
(Oct 4, 2013)
classified by single submitter
6.
PNPPurine-nucleoside phosphorylase deficiencyPathogenic
(Oct 4, 2013)
classified by single submitter1420472468
7.
PNPPurine-nucleoside phosphorylase deficiencyPathogenic
(Oct 4, 2013)
classified by single submitter1420472366
8.
PNPPurine-nucleoside phosphorylase deficiencyPathogenic
(Oct 4, 2013)
classified by single submitter
9.
PNPPurine-nucleoside phosphorylase deficiencyPathogenic
(Oct 4, 2013)
classified by single submitter1420475175
10.
PNPPurine-nucleoside phosphorylase deficiencyPathogenic
(Oct 4, 2013)
classified by single submitter1420474870
11.
PNPPurine-nucleoside phosphorylase deficiencyPathogenic
(Oct 4, 2013)
classified by single submitter1420474555
12.
PNPNUCLEOSIDE PHOSPHORYLASE POLYMORPHISM, not providedGO-ESP:0.20029(A)
GMAF:0.20470(A)
Benign
(Oct 4, 2013)
classified by multiple submitters1420472447
13.
PNPPurine-nucleoside phosphorylase deficiencyGO-ESP:0.00015(C)Pathogenic
(Oct 4, 2013)
classified by single submitter1420476432
14.
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1420475357 - 21613255
15.
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1420127290 - 21376436
16.
ANG, APEX1, DAD1, HNRNPC, PNP, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, TRA, TRAV6, TEP1, TRL-AAG2-1, TRP-AGG2-3, TRP-AGG2-4, TRT-TGT3-1, TOX4, PARP2, EDDM3A, SUPT16H, OR10G3, OR10G2, OR4E2, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, SLC39A2, ZNF219, OSGEP, ARHGEF40, METTL3, RPGRIP1, NDRG2, CHD8, CCNB1IP1, ABHD4, EDDM3B, METTL17, OR4K5, OR4K1, OR4K15, RNASE7, RAB2B, RPPH1, TMEM55B, TTC5, RNASE11, TPPP2, RNASE8, OR4K14, OR4L1, OR11H6, KLHL33, LOC254028, LINC00641, SNORD8, RNASE10, OR6S1, OR4N2, OR4K2, OR4K13, OR4K17, OR4N5, OR11G2, OR11H4, RNASE9, OR5AU1, RNASE13, OR4M1, RNASE12, TMEM253, SNORD9, TRY-GTA7-1, TRY-GTA5-2, SNORD126, TRY-GTA5-3, TRP-TGG3-1, TRL-TAG2-1, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-1, LOC101929718, MIR6717
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1419755249 - 22741281
17.
ANG, APEX1, BCL2L2, CEBPE, DAD1, HNRNPC, MMP14, MYH6, MYH7, PNP, OXA1L, PSMB5, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, TRA, TRAV6, TEP1, TRL-AAG2-1, TRP-AGG2-3, TRP-AGG2-4, TRT-TGT3-1, PABPN1, SLC7A7, TOX4, PARP2, EFS, PRMT5, EDDM3A, SUPT16H, ACIN1, SLC7A8, LRP10, OR10G3, OR10G2, OR4E2, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, SLC39A2, ZNF219, SLC22A17, HAUS4, C14orf119, RBM23, OSGEP, ARHGEF40, METTL3, RPGRIP1, NDRG2, HOMEZ, CHD8, CCNB1IP1, C14orf93, ABHD4, EDDM3B, CDH24, METTL17, IL25, RNASE7, RAB2B, AJUBA, RPPH1, PPP1R3E, TMEM55B, TTC5, CMTM5, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR11H6, KLHL33, REM2, LOC254028, LINC00641, SNORD8, RNASE10, OR6S1, OR11G2, OR11H4, RNASE9, OR5AU1, MIR208A, RNASE13, RNASE12, TMEM253, SNORD9, TRY-GTA7-1, TRY-GTA5-2, SNORD126, MIR208B, TRY-GTA5-3, TRP-TGG3-1, TRL-TAG2-1, TRR-ACG1-1, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-1, RNF212B, BCL2L2-PABPN1, MIR4707, LOC101926933, LOC101929718, MIR6717, MHRT
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1420151149 - 23442195
18.
ANG, APEX1, BCL2L2, CEBPE, CMA1, LTB4R, CTSG, DAD1, GZMH, GZMB, HNRNPC, MMP14, MYH6, MYH7, NEDD8, NFATC4, PNP, NRL, OXA1L, PCK2, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, TRA, TRAV6, TEP1, TGM1, TRL-AAG2-1, TRP-AGG2-3, TRP-AGG2-4, TRT-TGT3-1, PABPN1, AP1G2, SLC7A7, CPNE6, TOX4, REC8, DHRS2, EFS, IRF9, PRMT5, TM9SF1, EDDM3A, DHRS4, RIPK3, SUPT16H, ACIN1, KHNYN, SLC7A8, NGDN, LRP10, TINF2, OR10G3, OR10G2, OR4E2, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, HAUS4, C14orf119, RNF31, RBM23, DHRS4-AS1, OSGEP, ARHGEF40, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, C14orf93, ABHD4, EDDM3B, CDH24, METTL17, IL25, THTPA, IPO4, DCAF11, JPH4, RNASE7, RAB2B, AJUBA, ZFHX2, LRRC16B, PPP1R3E, TMEM55B, DHRS1, CMTM5, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, KLHL33, MDP1, FITM1, REM2, NOP9, ADCY4, LOC254028, LINC00641, TSSK4, DHRS4L2, SNORD8, RNASE10, OR6S1, RNASE9, OR5AU1, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, SNORD9, DHRS4L1, TRY-GTA7-1, TRY-GTA5-2, MIR208B, TRY-GTA5-3, TRP-TGG3-1, TRL-TAG2-1, TRR-ACG1-1, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-1, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4707, LOC101926933, LOC101927045, LOC101929718, MIR6717, MIR7703, LOC102724814, MHRT
See casesLikely pathogenic
(Aug 29, 2011)
classified by single submitter1420412587 - 25018120
19.
ANG, APEX1, BCL2L2, CEBPE, CMA1, LTB4R, CTSG, DAD1, GZMH, GZMB, HNRNPC, MMP14, MYH6, MYH7, NEDD8, NFATC4, NOVA1, PNP, NRL, OXA1L, PCK2, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, TRA, TRAV6, TEP1, TGM1, TRL-AAG2-1, TRP-AGG2-3, TRP-AGG2-4, TRT-TGT3-1, PABPN1, AP1G2, SLC7A7, CPNE6, TOX4, REC8, PARP2, DHRS2, EFS, IRF9, PRMT5, TM9SF1, EDDM3A, DHRS4, RIPK3, SUPT16H, ACIN1, KHNYN, SLC7A8, NGDN, LRP10, TINF2, OR10G3, OR10G2, OR4E2, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, HAUS4, C14orf119, RNF31, RBM23, DHRS4-AS1, OSGEP, ARHGEF40, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, CCNB1IP1, C14orf93, ABHD4, EDDM3B, CDH24, METTL17, IL25, THTPA, IPO4, DCAF11, JPH4, RNASE7, RAB2B, AJUBA, ZFHX2, RPPH1, LRRC16B, PPP1R3E, TMEM55B, TTC5, DHRS1, CMTM5, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR11H6, KLHL33, MDP1, FITM1, REM2, NOP9, ADCY4, LOC254028, LINC00641, TSSK4, DHRS4L2, SNORD8, RNASE10, OR6S1, OR11G2, OR11H4, RNASE9, OR5AU1, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, SNORD9, DHRS4L1, TRY-GTA7-1, TRY-GTA5-2, SNORD126, MIR208B, TRY-GTA5-3, TRP-TGG3-1, TRL-TAG2-1, TRR-ACG1-1, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-1, MIR3171, MIR4307, LINC00645, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4707, LOC101926933, LOC101927045, LOC101927062, LOC101927081, LOC101929718, MIR6717, MIR7703, LOC102724814, LOC102724890, MHRT
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1420151149 - 27723796
20.
ANG, APEX1, ARHGAP5, BCL2L2, CEBPE, CFL2, CMA1, LTB4R, CTSG, DAD1, COCH, FOXG1, GPR33, GZMH, GZMB, FOXA1, HNRNPC, MMP14, MYH6, MYH7, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, OXA1L, PAX9, PCK2, PRKD1, PSMA6, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, SRP54, SSTR1, TRA, TRAV6, TEP1, TGM1, NKX2-1, TRL-AAG2-1, TRP-AGG2-3, TRP-AGG2-4, TRT-TGT3-1, PABPN1, AP1G2, SLC7A7, CPNE6, AKAP6, KIAA0391, TOX4, REC8, PARP2, DHRS2, EFS, IRF9, PRMT5, TM9SF1, EDDM3A, DHRS4, RIPK3, AP4S1, BAZ1A, SUPT16H, ACIN1, SCFD1, KHNYN, SLC7A8, HECTD1, HEATR5A, NGDN, LRP10, NKX2-8, TINF2, OR10G3, OR10G2, OR4E2, RNU1-27P, RNU1-28P, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, STRN3, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, MBIP, HAUS4, PPP2R3C, C14orf119, RNF31, RBM23, DHRS4-AS1, G2E3, OSGEP, ARHGEF40, EAPP, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, CCNB1IP1, SNX6, C14orf93, ABHD4, NPAS3, EDDM3B, CDH24, METTL17, IL25, THTPA, IPO4, NUBPL, DCAF11, BRMS1L, JPH4, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, ZFHX2, RPPH1, SLC25A21, LRRC16B, PPP1R3E, TMEM55B, TTC5, EGLN3, DTD2, DHRS1, CMTM5, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4K14, OR4L1, OR11H6, KLHL33, MIPOL1, MDP1, CLEC14A, FITM1, REM2, NOP9, SPTSSA, ADCY4, RALGAPA1, SFTA3, LOC254028, LINC00639, LINC00641, TSSK4, FAM177A1, DHRS4L2, TTC6, SNORD8, RNASE10, OR6S1, LINC01551, OR4K13, OR4K17, OR4N5, OR11G2, OR11H4, RNASE9, OR5AU1, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, SNORD9, MIR624, DHRS4L1, TRY-GTA7-1, TRY-GTA5-2, SNORD126, MIR208B, SLC25A21-AS1, TRY-GTA5-3, TRP-TGG3-1, TRL-TAG2-1, TRR-ACG1-1, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-1, MIR3171, MIR4307, LINC00645, LOC100506071, NKX2-1-AS1, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4503, MIR4707, PTCSC3, LINC00609, LOC101926933, LOC101927045, LOC101927062, LOC101927081, LOC101927124, LOC101927178, LOC101929718, RNU6-7, RNU6-8, MIR6717, MIR7703, LOC102724814, LOC102724890, FOXG1-AS1, MHRT
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1420000611 - 38984415

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