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Items: 50

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:238402172
GRCh38:
Chr2:237493529
MLPHGriscelli syndrome type 3Pathogenic
(Aug 1, 2003)
no assertion criteria provided
2.
GRCh37:
Chr2:238402173
GRCh38:
Chr2:237493530
MLPHnot providedLikely pathogeniccriteria provided, single submitter
3.
GRCh37:
Chr2:238436125
GRCh38:
Chr2:237527482
MLPHnot providedLikely pathogeniccriteria provided, single submitter
4.
GRCh37:
Chr2:238305415-238742983
COL6A3, LRRFIP1, PRLH, RAB17, MLPH, RBM44Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
5.
GRCh37:
Chr2:236911223-242783384
See casesPathogenicno assertion criteria provided
6.
GRCh37:
Chr2:234495262-242783384
See casesPathogenicno assertion criteria provided
7.
GRCh37:
Chr2:237938270-242783384
See casesPathogenicno assertion criteria provided
8.
GRCh37:
Chr2:236577291-242783384
See casesPathogenicno assertion criteria provided
9.
GRCh37:
Chr2:238072533-242783384
See casesPathogenicno assertion criteria provided
10.
GRCh37:
Chr2:236285213-242783384
See casesPathogenicno assertion criteria provided
11.
GRCh37:
Chr2:237816758-242783384
See casesPathogenicno assertion criteria provided
12.
GRCh37:
Chr2:238249548-238646119
COL6A3, LRRFIP1, PRLH, RAB17, MLPHSee casesUncertain significanceno assertion criteria provided
13.
GRCh37:
Chr2:233784243-243040217
See casesPathogenicno assertion criteria provided
14.
GRCh37:
Chr2:232634989-243059659
GRCh38:
Chr2:231770279-242126245
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr2:218966482-243059659
GRCh38:
Chr2:218101759-242126245
AAMP, AGXT, ALPI, ALPP, ALPPL2, KIF1A, BCS1L, BOK, CHRND, CHRNG, COL4A3, COL4A4, COL6A3, CRYBA2, CYP27A1, DES, DTYMK, EPHA4, ACSL3, GBX2, GPC1, GPR35, HDLBP, AGFG1, DNAJB2, HTR2B, SP110, IHH, CXCR1, CXCR2, INHA, INPP5D, IRS1, KCNJ13, NCL, NDUFA10, SEPT2, NEU2, NPPC, PAX3, PDCD1, PDE6D, SERPINE2, PPP1R7, PSMD1, PTMA, PTPRN, SNORD20, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, TUBA4A, UGT1A, VIL1, WNT6, ZNF142, SCG2, CUL3, DGKD, STK16, PER2, CDK5R2, CNOT9, LRRFIP1, GPR55, TRIP12, ECEL1, EIF4E2, TTLL4, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, RAMP1, SPEG, NMUR1, STK25, COPS8, CAPN10, SP140, PASK, ATG4B, OBSL1, DNPEP, SH3BP4, KCNE4, NGEF, SNORD82, PNKD, SNED1, GIGYF2, TRAF3IP1, CNPPD1, STK36, GMPPA, ANO7, PRLH, THAP4, ANKMY1, SCLY, ASB1, CAB39, PRKAG3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, PID1, ATG16L1, ANKZF1, USP40, HJURP, HES6, ASIC4, DOCK10, C2orf83, MFF, ACKR3, RNPEPL1, WDFY1, NYAP2, USP37, CTDSP1, GAL3ST2, TMBIM1, RAB17, RNF25, COPS7B, MRPL44, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, CHPF, IQCA1, NHEJ1, FAM124B, TM4SF20, C2orf54, ARMC9, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, RHBDD1, ING5, PLCD4, MGC16025, DNER, B3GNT7, SP140L, LOC93463, STK11IP, MOGAT1, AGAP1, TWIST2, DIS3L2, NEU4, AP1S3, SGPP2, SPATA3, TMEM198, ZFAND2B, FBXO36, MTERF4, UBE2F, OTOS, COPS9, OR6B3, LOC150935, LINC01107, LOC151174, ERFE, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, TIGD1, LOC200772, CFAP65, C2orf72, RTP5, LOC285095, DUSP28, MROH2A, ESPNL, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, RESP18, C2orf82, OR6B2, ASB18, LINC01940, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, PRR21, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, MIR562, D2HGDH, LINC01881, CROCC2, LOC100128563, LOC100129175, PP14571, TRY-ATA1-1, MIR1471, MIR1244-1, BOK-AS1, MIR3133, MIR3131, MIR4268, MIR3132, MIR4269, AGAP1-IT1, UBE2F-SCLY, MIR4439, MIR4777, MIR2467, MIR4440, MIR4786, MIR4441, MIR5001, MIR5702, MIR5703, LOC100996693, CAPN10-AS1, LINC01237, LOC101928111, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6811, MIR6810, LINC01238, MIR9500, CATIP-AS2, LINC01803, LINC01891, LINC01937, LINC01880, LINC01173
See casesPathogenic
(Feb 4, 2013)
no assertion criteria provided
16.
GRCh37:
Chr2:190300875-242783384
GRCh38:
Chr2:189436149-241841232
AAMP, ACADL, AGXT, ALPI, ALPP, ALPPL2, AOX1, ATIC, KIF1A, BARD1, BCS1L, BMPR2, BOK, CASP8, CASP10, CD28, CHRND, CHRNG, CLK1, COL4A3, COL4A4, COL6A3, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, DTYMK, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, GBX2, MSTN, GLS, GPC1, GPR1, GPR35, HDLBP, AGFG1, DNAJB2, HSPD1, HSPE1, HTR2B, IDH1, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP1, INPP5D, IRS1, KCNJ13, MAP2, MYO1B, MYL1, NAB1, NCL, NDUFA10, NDUFB3, NDUFS1, SEPT2, NEU2, NPPC, ORC2, PAX3, PDE6D, SERPINE2, PLCL1, PMS1, PPP1R7, PSMD1, PTH2R, PTMA, PTPRN, SNORD20, RPE, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, STAT1, STAT4, TNP1, TNS1, TUBA4A, SUMO1, UGT1A, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CAVIN2, CUL3, DGKD, STK16, KLF7, ADAM23, NRP2, CFLAR, PER2, CDK5R2, CNOT9, LRRFIP1, STK17B, GPR55, TRIP12, GTF3C3, ECEL1, EIF4E2, TTLL4, BZW1, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, ABI2, RAMP1, SPEG, LANCL1, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, FASTKD2, PASK, ATG4B, SATB2, OBSL1, SF3B1, DNPEP, TMEFF2, SH3BP4, KCNE4, NGEF, SNORD82, MOB4, PNKD, SNED1, SPATS2L, GIGYF2, TRAF3IP1, ABCA12, HIBCH, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SLC40A1, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, NOP58, ASB1, CAB39, PRKAG3, PPIL3, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, MFSD6, INO80D, PID1, ATG16L1, ANKZF1, USP40, HJURP, STRADB, HES6, ASIC4, DOCK10, MREG, WDR12, PECR, DNAH7, C2orf83, MFF, ACKR3, RNPEPL1, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, NYAP2, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, PCGEM1, GAL3ST2, TMBIM1, OSGEPL1, RAB17, RNF25, COPS7B, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, IQCA1, CARF, NHEJ1, FAM124B, TM4SF20, C2orf54, PGAP1, ARMC9, COQ10B, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, WDR75, RHBDD1, C2orf88, ING5, PLCD4, MGC16025, ANKRD44, TMEM169, DNER, MARS2, B3GNT7, SP140L, LOC93463, ORMDL1, STK11IP, MOGAT1, AGAP1, TWIST2, PARD3B, TYW5, DIS3L2, NEU4, ICA1L, RFTN2, AP1S3, SGPP2, KCTD18, ALS2CR12, SPATA3, TMEM198, ZFAND2B, CPO, MDH1B, FBXO36, MTERF4, UBE2F, SATB2-AS1, OTOS, COPS9, OR6B3, ANKAR, FAM117B, LOC150935, LINC01963, KANSL1L, LINC01107, LOC151174, ERFE, METTL21A, CCNYL1, SGO2, C2CD6, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, PIKFYVE, FAM237A, TIGD1, LOC200772, C2orf69, CFAP65, C2orf72, CCDC150, FAM126B, UNC80, RUFY4, DUSP28, MROH2A, ESPNL, FTCDNL1, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, PLEKHM3, C2orf80, RESP18, C2orf82, OR6B2, DYTN, C2orf66, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, SNORA41, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, SNORD11, SNORD70, MIR562, D2HGDH, CROCC2, LOC729224, DIRC3, SNORD11B, LOC100128563, LOC100129175, PP14571, LOC100130451, LOC100130452, NEMP2, TRY-ATA1-1, MIR1471, MIR1302-4, MIR1244-1, MIR548F2, BOK-AS1, MIR3133, MIR3131, MIR4268, MIR3130-1, MIR3130-2, MIR2355, MIR3132, MIR4269, AGAP1-IT1, LINC01792, LOC100507443, IDH1-AS1, HSPE1-MOB4, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR2467, MIR4775, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, KIAA2012, MIR5001, MIR5702, MIR5703, RNU6-31P, VWC2L-IT1, LOC100996693, OSGEPL1-AS1, GPR1-AS, CAPN10-AS1, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, LOC101927865, LOC101927960, LOC101928020, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR7845, MIR6810, LINC01857, LANCL1-AS1, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LOC105373805, LINC01827, LINC01802, MYOSLID, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LOC105747689, LINC01173, SNORA105B
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
17.
GRCh37:
Chr2:235068297-242783384
GRCh38:
Chr2:234159653-241841232
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
18.
GRCh37:
Chr2:236755560-242783384
GRCh38:
Chr2:235846916-241841232
See casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
19.
GRCh37:
Chr2:237322365-243059659
GRCh38:
Chr2:236413722-242126251
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
20.
GRCh37:
Chr2:237684405-243059659
GRCh38:
Chr2:236775762-242126251
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
21.
GRCh37:
Chr2:234967401-240365384
GRCh38:
Chr2:234058757-239443690
See casesPathogenic
(Feb 8, 2011)
no assertion criteria provided
22.
GRCh37:
Chr2:235744424-243007359
GRCh38:
Chr2:234835780-242065208
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
23.
GRCh37:
Chr2:235937073-243008259
GRCh38:
Chr2:235028429-242066108
See casesPathogenic
(Sep 16, 2011)
no assertion criteria provided
24.
GRCh37:
Chr2:238140847-243007359
GRCh38:
Chr2:237232204-242065208
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
25.
GRCh37:
Chr2:211444400-243059659
GRCh38:
Chr2:210579676-242126245
AAMP, AGXT, ALPI, ALPP, ALPPL2, ATIC, KIF1A, BARD1, BCS1L, BOK, CHRND, CHRNG, COL4A3, COL4A4, COL6A3, CPS1, CRYBA2, CYP27A1, DES, DTYMK, EPHA4, ERBB4, ACSL3, FN1, GBX2, GPC1, GPR35, HDLBP, AGFG1, DNAJB2, HTR2B, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP5D, IRS1, KCNJ13, NCL, NDUFA10, SEPT2, NEU2, NPPC, PAX3, PDCD1, PDE6D, SERPINE2, PPP1R7, PSMD1, PTMA, PTPRN, SNORD20, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, TNP1, TNS1, TUBA4A, UGT1A, VIL1, WNT6, XRCC5, ZNF142, SCG2, CUL3, DGKD, STK16, PER2, CDK5R2, CNOT9, LRRFIP1, GPR55, TRIP12, ECEL1, EIF4E2, TTLL4, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, RAMP1, SPEG, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, PASK, ATG4B, OBSL1, DNPEP, SH3BP4, KCNE4, NGEF, SNORD82, PNKD, SNED1, GIGYF2, TRAF3IP1, ABCA12, CNPPD1, STK36, CPS1-IT1, GMPPA, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, ASB1, CAB39, PRKAG3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, PID1, ATG16L1, ANKZF1, USP40, HJURP, HES6, ASIC4, DOCK10, MREG, PECR, C2orf83, MFF, ACKR3, RNPEPL1, MARCH4, WDFY1, NYAP2, USP37, CTDSP1, GAL3ST2, TMBIM1, RAB17, RNF25, COPS7B, MRPL44, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, SPAG16, CHPF, IQCA1, NHEJ1, FAM124B, TM4SF20, C2orf54, ARMC9, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, RHBDD1, ING5, PLCD4, MGC16025, TMEM169, DNER, B3GNT7, SP140L, LOC93463, STK11IP, MOGAT1, AGAP1, TWIST2, DIS3L2, NEU4, AP1S3, SGPP2, SPATA3, TMEM198, ZFAND2B, FBXO36, MTERF4, UBE2F, OTOS, COPS9, OR6B3, LOC150935, LINC01963, LINC01107, LOC151174, ERFE, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, TIGD1, LOC200772, CFAP65, C2orf72, RTP5, LOC285095, RUFY4, DUSP28, MROH2A, ESPNL, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, RESP18, C2orf82, OR6B2, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, MIR562, D2HGDH, LINC01881, CROCC2, DIRC3, LOC100128563, LOC100129175, PP14571, LOC100130451, TRY-ATA1-1, MIR1471, MIR1244-1, MIR548F2, BOK-AS1, MIR3133, MIR3131, MIR4268, MIR3132, MIR4269, AGAP1-IT1, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR2467, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, MIR5001, MIR5702, MIR5703, VWC2L-IT1, LOC100996693, CAPN10-AS1, LINC01237, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR6810, LINC01238, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LINC01880, LINC01173
See casesPathogenic
(Feb 25, 2011)
no assertion criteria provided
26.
GRCh37:
Chr2:237943119-243007359
GRCh38:
Chr2:237034476-242065208
See casesPathogenic
(Oct 20, 2010)
no assertion criteria provided
27.
GRCh37:
Chr2:237875406-243007359
GRCh38:
Chr2:236966763-242065208
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
28.
GRCh37:
Chr2:229588295-242344282
GRCh38:
Chr2:228723579-241404867
See casesPathogenic
(Aug 19, 2010)
no assertion criteria provided
29.
GRCh37:
Chr2:236472308-243028452
GRCh38:
Chr2:235563664-242086301
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
30.
GRCh37:
Chr2:236177412-243059659
GRCh38:
Chr2:235268768-242126245
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
31.
GRCh37:
Chr2:235134181-242505322
GRCh38:
Chr2:234225537-241565907
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
32.
GRCh37:
Chr2:228667864-243028452
GRCh38:
Chr2:227803148-242086301
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr2:224857148-243059659
GRCh38:
Chr2:223992431-242126245
AGXT, ALPI, ALPP, ALPPL2, KIF1A, BOK, CHRND, CHRNG, COL4A3, COL4A4, COL6A3, DTYMK, GBX2, GPC1, GPR35, HDLBP, AGFG1, HTR2B, SP110, INPP5D, IRS1, KCNJ13, NCL, NDUFA10, SEPT2, NEU2, NPPC, PDCD1, PDE6D, SERPINE2, PPP1R7, PSMD1, PTMA, SNORD20, SAG, CCL20, SP100, SPP2, UGT1A, CUL3, DGKD, PER2, LRRFIP1, GPR55, TRIP12, ECEL1, EIF4E2, HDAC4, FARP2, ARL4C, RAMP1, NMUR1, STK25, COPS8, CAPN10, SP140, PASK, ATG4B, SH3BP4, NGEF, SNORD82, SNED1, GIGYF2, TRAF3IP1, ANO7, PRLH, THAP4, ANKMY1, SCLY, ASB1, CAB39, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, PID1, ATG16L1, USP40, HJURP, HES6, DOCK10, C2orf83, MFF, ACKR3, RNPEPL1, NYAP2, GAL3ST2, RAB17, COPS7B, TRPM8, MLPH, IQCA1, FAM124B, TM4SF20, C2orf54, ARMC9, EFHD1, SPHKAP, SLC19A3, ILKAP, ITM2C, RHBDD1, ING5, MGC16025, DNER, B3GNT7, SP140L, LOC93463, AGAP1, TWIST2, DIS3L2, NEU4, SPATA3, FBXO36, MTERF4, UBE2F, OTOS, COPS9, OR6B3, LOC150935, LINC01107, LOC151174, ERFE, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, TIGD1, LOC200772, C2orf72, RTP5, LOC285095, DUSP28, MROH2A, ESPNL, SPATA3-AS1, RBM44, AQP12A, KLHL30, C2orf82, OR6B2, ASB18, LINC01940, MIR149, DNAJB3, PRR21, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, MIR562, D2HGDH, LINC01881, CROCC2, LOC100128563, PP14571, MIR1471, MIR1244-1, BOK-AS1, MIR3133, MIR4269, AGAP1-IT1, UBE2F-SCLY, MIR4439, MIR4777, MIR2467, MIR4440, MIR4786, MIR4441, MIR5001, MIR5702, MIR5703, CAPN10-AS1, LINC01237, LOC101928111, LINC01807, LOC101928881, MIR6811, LINC01238, LINC01891, LINC01937, LINC01880, LINC01173
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr2:193987039-242014395
GRCh38:
Chr2:193122313-241074980
AAMP, ACADL, AGXT, ALPI, ALPP, ALPPL2, AOX1, ATIC, KIF1A, BARD1, BCS1L, BMPR2, CASP8, CASP10, CD28, CHRND, CHRNG, CLK1, COL4A3, COL4A4, COL6A3, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, GBX2, GPC1, GPR1, GPR35, AGFG1, DNAJB2, HSPD1, HSPE1, HTR2B, IDH1, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP5D, IRS1, KCNJ13, MAP2, MYL1, NCL, NDUFA10, NDUFB3, NDUFS1, NEU2, NPPC, ORC2, PAX3, PDE6D, SERPINE2, PLCL1, PSMD1, PTH2R, PTMA, PTPRN, SNORD20, RPE, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, TNP1, TNS1, TUBA4A, SUMO1, UGT1A, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CUL3, DGKD, STK16, KLF7, ADAM23, NRP2, CFLAR, PER2, CDK5R2, CNOT9, LRRFIP1, STK17B, GPR55, TRIP12, GTF3C3, ECEL1, EIF4E2, TTLL4, BZW1, HDAC4, FARSB, ABCB6, ARPC2, ARL4C, ABI2, RAMP1, SPEG, LANCL1, NMUR1, COPS8, CAPN10, SP140, IKZF2, FASTKD2, SATB2, OBSL1, SF3B1, DNPEP, SH3BP4, KCNE4, NGEF, SNORD82, MOB4, PNKD, SNED1, SPATS2L, GIGYF2, TRAF3IP1, ABCA12, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SMARCAL1, PRLH, ANKMY1, SCLY, NOP58, ASB1, CAB39, PRKAG3, PPIL3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, INO80D, PID1, ATG16L1, ANKZF1, USP40, HJURP, STRADB, HES6, ASIC4, DOCK10, MREG, WDR12, PECR, DNAH7, C2orf83, MFF, ACKR3, RNPEPL1, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, NYAP2, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, TMBIM1, RAB17, RNF25, COPS7B, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, IQCA1, CARF, NHEJ1, FAM124B, TM4SF20, C2orf54, PGAP1, ARMC9, COQ10B, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, RHBDD1, PLCD4, MGC16025, ANKRD44, TMEM169, DNER, MARS2, B3GNT7, SP140L, LOC93463, STK11IP, MOGAT1, AGAP1, TWIST2, PARD3B, TYW5, DIS3L2, ICA1L, RFTN2, AP1S3, SGPP2, KCTD18, ALS2CR12, SPATA3, TMEM198, ZFAND2B, CPO, MDH1B, FBXO36, MTERF4, UBE2F, SATB2-AS1, OTOS, COPS9, OR6B3, FAM117B, LOC150935, LINC01963, KANSL1L, LINC01107, LOC151174, ERFE, METTL21A, CCNYL1, SGO2, C2CD6, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, PIKFYVE, FAM237A, TIGD1, LOC200772, C2orf69, CFAP65, C2orf72, CCDC150, FAM126B, UNC80, RUFY4, DUSP28, MROH2A, ESPNL, FTCDNL1, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, PLEKHM3, C2orf80, RESP18, C2orf82, OR6B2, DYTN, C2orf66, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, SNORA41, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, SNORD11, SNORD70, MIR562, CROCC2, LOC729224, DIRC3, SNORD11B, LOC100128563, LOC100129175, PP14571, LOC100130451, LOC100130452, TRY-ATA1-1, MIR1471, MIR1302-4, MIR1244-1, MIR548F2, MIR3131, MIR4268, MIR3130-1, MIR3130-2, MIR2355, MIR3132, MIR4269, AGAP1-IT1, LINC01792, LOC100507443, IDH1-AS1, HSPE1-MOB4, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR2467, MIR4775, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, KIAA2012, MIR5001, MIR5702, MIR5703, RNU6-31P, VWC2L-IT1, LOC100996693, GPR1-AS, CAPN10-AS1, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, LOC101927865, LOC101927960, LOC101928020, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR7845, MIR6810, LINC01857, LANCL1-AS1, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LINC01827, LINC01802, MYOSLID, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LINC01173, SNORA105B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr2:191175462-242834921
GRCh38:
Chr2:190310736-241892770
AAMP, ACADL, AGXT, ALPI, ALPP, ALPPL2, AOX1, ATIC, KIF1A, BARD1, BCS1L, BMPR2, BOK, CASP8, CASP10, CD28, CHRND, CHRNG, CLK1, COL4A3, COL4A4, COL6A3, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, DTYMK, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, GBX2, GLS, GPC1, GPR1, GPR35, HDLBP, AGFG1, DNAJB2, HSPD1, HSPE1, HTR2B, IDH1, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP1, INPP5D, IRS1, KCNJ13, MAP2, MYO1B, MYL1, NAB1, NCL, NDUFA10, NDUFB3, NDUFS1, SEPT2, NEU2, NPPC, ORC2, PAX3, PDCD1, PDE6D, SERPINE2, PLCL1, PPP1R7, PSMD1, PTH2R, PTMA, PTPRN, SNORD20, RPE, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, STAT1, STAT4, TNP1, TNS1, TUBA4A, SUMO1, UGT1A, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CAVIN2, CUL3, DGKD, STK16, KLF7, ADAM23, NRP2, CFLAR, PER2, CDK5R2, CNOT9, LRRFIP1, STK17B, GPR55, TRIP12, GTF3C3, ECEL1, EIF4E2, TTLL4, BZW1, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, ABI2, RAMP1, SPEG, LANCL1, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, FASTKD2, PASK, ATG4B, SATB2, OBSL1, SF3B1, DNPEP, TMEFF2, SH3BP4, KCNE4, NGEF, SNORD82, MOB4, PNKD, SNED1, SPATS2L, GIGYF2, TRAF3IP1, ABCA12, HIBCH, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, NOP58, ASB1, CAB39, PRKAG3, PPIL3, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, MFSD6, INO80D, PID1, ATG16L1, ANKZF1, USP40, HJURP, STRADB, HES6, ASIC4, DOCK10, MREG, WDR12, PECR, DNAH7, C2orf83, MFF, ACKR3, RNPEPL1, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, NYAP2, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, PCGEM1, GAL3ST2, TMBIM1, RAB17, RNF25, COPS7B, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, IQCA1, CARF, NHEJ1, FAM124B, TM4SF20, C2orf54, PGAP1, ARMC9, COQ10B, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, RHBDD1, ING5, PLCD4, MGC16025, ANKRD44, TMEM169, DNER, MARS2, B3GNT7, SP140L, LOC93463, STK11IP, MOGAT1, AGAP1, TWIST2, PARD3B, TYW5, DIS3L2, NEU4, ICA1L, RFTN2, AP1S3, SGPP2, KCTD18, ALS2CR12, SPATA3, TMEM198, ZFAND2B, CPO, MDH1B, FBXO36, MTERF4, UBE2F, SATB2-AS1, OTOS, COPS9, OR6B3, FAM117B, LOC150935, LINC01963, KANSL1L, LINC01107, LOC151174, ERFE, METTL21A, CCNYL1, SGO2, C2CD6, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, PIKFYVE, FAM237A, TIGD1, LOC200772, C2orf69, CFAP65, C2orf72, CCDC150, RTP5, FAM126B, UNC80, RUFY4, DUSP28, MROH2A, ESPNL, FTCDNL1, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, PLEKHM3, C2orf80, RESP18, C2orf82, OR6B2, DYTN, C2orf66, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, SNORA41, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, SNORD11, SNORD70, MIR562, D2HGDH, CROCC2, LOC729224, DIRC3, SNORD11B, LOC100128563, LOC100129175, PP14571, LOC100130451, LOC100130452, NEMP2, TRY-ATA1-1, MIR1471, MIR1302-4, MIR1244-1, MIR548F2, BOK-AS1, MIR3133, MIR3131, MIR4268, MIR3130-1, MIR3130-2, MIR2355, MIR3132, MIR4269, AGAP1-IT1, LINC01792, LOC100507443, IDH1-AS1, HSPE1-MOB4, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR2467, MIR4775, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, KIAA2012, MIR5001, MIR5702, MIR5703, RNU6-31P, VWC2L-IT1, LOC100996693, GPR1-AS, CAPN10-AS1, LINC01237, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, LOC101927865, LOC101927960, LOC101928020, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR7845, MIR6810, LINC01857, LANCL1-AS1, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LOC105373805, LINC01827, LINC01802, MYOSLID, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LOC105747689, LINC01173, SNORA105B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
36.
GRCh37:
Chr2:189682921-243007359
GRCh38:
Chr2:188818195-242065208
AAMP, ACADL, AGXT, ALPI, ALPP, ALPPL2, AOX1, ATIC, KIF1A, BARD1, BCS1L, BMPR2, BOK, CASP8, CASP10, CD28, CHRND, CHRNG, CLK1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP27A1, DES, DTYMK, EEF1B2, EPHA4, ERBB4, ACSL3, FN1, GBX2, MSTN, GLS, GPC1, GPR1, GPR35, HDLBP, AGFG1, DNAJB2, HSPD1, HSPE1, HTR2B, IDH1, SP110, IGFBP2, IGFBP5, IHH, CXCR1, CXCR2, INHA, INPP1, INPP5D, IRS1, KCNJ13, MAP2, MYO1B, MYL1, NAB1, NCL, NDUFA10, NDUFB3, NDUFS1, SEPT2, NEU2, NPPC, ORC2, PAX3, PDCD1, PDE6D, SERPINE2, PLCL1, PMS1, PPP1R7, PSMD1, PTH2R, PTMA, PTPRN, SNORD20, RPE, RPL37A, SAG, CCL20, SLC4A3, SLC11A1, SP100, SPP2, STAT1, STAT4, TNP1, TNS1, TUBA4A, SUMO1, UGT1A, VIL1, WNT6, XRCC5, ZNF142, FZD5, SCG2, FZD7, CAVIN2, CUL3, DGKD, STK16, KLF7, ADAM23, NRP2, CFLAR, PER2, CDK5R2, CNOT9, LRRFIP1, STK17B, GPR55, TRIP12, GTF3C3, ECEL1, EIF4E2, TTLL4, BZW1, HDAC4, FARP2, FARSB, ABCB6, ARPC2, ARL4C, ABI2, RAMP1, SPEG, LANCL1, NMUR1, STK25, COPS8, CAPN10, SP140, IKZF2, FASTKD2, PASK, ATG4B, SATB2, OBSL1, SF3B1, DNPEP, TMEFF2, SH3BP4, KCNE4, NGEF, SNORD82, MOB4, PNKD, SNED1, SPATS2L, GIGYF2, TRAF3IP1, ABCA12, HIBCH, SNORD51, CNPPD1, STK36, CPS1-IT1, ICOS, GMPPA, SLC40A1, SMARCAL1, ANO7, PRLH, THAP4, ANKMY1, SCLY, NOP58, ASB1, CAB39, PRKAG3, PPIL3, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, MFSD6, INO80D, PID1, ATG16L1, ANKZF1, USP40, HJURP, STRADB, HES6, ASIC4, DOCK10, MREG, WDR12, PECR, DNAH7, C2orf83, MFF, ACKR3, RNPEPL1, SLC39A10, CYP20A1, HECW2, MARCH4, WDFY1, NYAP2, ALS2, ZDBF2, USP37, CTDSP1, MPP4, NIF3L1, PCGEM1, GAL3ST2, TMBIM1, OSGEPL1, RAB17, RNF25, COPS7B, NABP1, RAPH1, CDK15, TMEM237, NBEAL1, CFLAR-AS1, MRPL44, TRAK2, BOLL, TRPM8, ATG9A, MLPH, RETREG2, GLB1L, MAIP1, SPAG16, CHPF, IQCA1, CARF, NHEJ1, FAM124B, TM4SF20, C2orf54, PGAP1, ARMC9, COQ10B, EFHD1, SPHKAP, WNT10A, SLC19A3, ILKAP, ITM2C, WDR75, RHBDD1, C2orf88, ING5, PLCD4, MGC16025, ANKRD44, TMEM169, DNER, MARS2, B3GNT7, SP140L, LOC93463, ORMDL1, STK11IP, MOGAT1, AGAP1, TWIST2, PARD3B, TYW5, DIS3L2, NEU4, ICA1L, RFTN2, AP1S3, SGPP2, KCTD18, ALS2CR12, SPATA3, TMEM198, ZFAND2B, CPO, MDH1B, FBXO36, MTERF4, UBE2F, SATB2-AS1, OTOS, COPS9, OR6B3, ANKAR, FAM117B, LOC150935, LINC01963, KANSL1L, LINC01107, LOC151174, ERFE, METTL21A, CCNYL1, SGO2, C2CD6, CCDC140, SLC23A3, LINC00608, GPBAR1, SLC16A14, LINC01907, LINC00471, LOC151484, DAW1, TEX44, PIKFYVE, FAM237A, TIGD1, LOC200772, C2orf69, CFAP65, C2orf72, CCDC150, RTP5, LOC285095, FAM126B, UNC80, RUFY4, DUSP28, MROH2A, ESPNL, FTCDNL1, SPATA3-AS1, CATIP, RBM44, AQP12A, KLHL30, PLEKHM3, C2orf80, RESP18, C2orf82, OR6B2, DYTN, C2orf66, ASB18, LINC01940, VWC2L, MIR149, MIR153-1, MIR26B, DNAJB3, LOC440934, MIR375, SNORA41, PRR21, LINC00607, LOC646736, PRSS56, AQP12B, SNORA75, LOC654841, SCARNA6, SCARNA5, SNORD11, SNORD70, MIR562, D2HGDH, CROCC2, LOC729224, DIRC3, SNORD11B, LOC100128563, LOC100129175, PP14571, LOC100130451, LOC100130452, NEMP2, TRY-ATA1-1, MIR1471, MIR1302-4, MIR1245A, MIR1244-1, MIR548F2, BOK-AS1, MIR3129, MIR3133, MIR3131, MIR4268, MIR3130-1, MIR3130-2, MIR2355, MIR3132, MIR4269, MIR3606, AGAP1-IT1, LINC01792, LOC100507443, IDH1-AS1, HSPE1-MOB4, UBE2F-SCLY, MIR4439, MIR4776-1, MIR4777, MIR1245B, MIR2467, MIR4775, MIR4438, MIR4440, MIR4786, MIR4776-2, MIR4441, KIAA2012, MIR5001, MIR5702, MIR5703, RNU6-31P, VWC2L-IT1, LOC100996693, OSGEPL1-AS1, GPR1-AS, CAPN10-AS1, LINC01237, LINC01821, LINC01790, LOC101927482, ANKRD44-IT1, LOC101927596, LINC01923, LINC01877, LOC101927795, LOC101927865, LOC101927960, LOC101928020, LOC101928103, LOC101928111, LINC01280, LINC01921, CATIP-AS1, LINC01494, LINC01807, LOC101928881, MIR6513, MIR6809, MIR6811, MIR7845, MIR6810, LINC01238, LINC01857, LANCL1-AS1, LOC102724849, LINC01878, MIR9500, CATIP-AS2, LOC105373805, LINC01827, LINC01802, MYOSLID, LINC01953, LINC01614, LOC105373876, DIRC3-AS1, LOC105373878, LINC01803, LINC01891, LINC01937, LINC01880, LOC105747689, LINC01173, SNORA105B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
37.
GRCh37:
Chr2:238434827-242938241
GRCh38:
Chr2:237526184-241996090
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
38.
GRCh37:
Chr2:237684215-243007500
GRCh38:
Chr2:236775572-242065349
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
39.
GRCh37:
Chr2:236649723-242974607
GRCh38:
Chr2:235741079-242032456
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
40.
GRCh37:
Chr2:236177412-243007359
GRCh38:
Chr2:235268768-242065208
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
41.
GRCh37:
Chr2:235815106-243007359
GRCh38:
Chr2:234906462-242065208
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
42.
GRCh37:
Chr2:235576803-243059659
GRCh38:
Chr2:234668159-242126245
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
43.
GRCh37:
Chr2:235081180-243028452
GRCh38:
Chr2:234172536-242086301
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
44.
GRCh37:
Chr2:234362257-243041306
GRCh38:
Chr2:233453611-242099155
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
45.
GRCh37:
Chr2:233995840-243028452
GRCh38:
Chr2:233420162-242086301
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
46.
GRCh37:
Chr2:233722438-243007500
GRCh38:
Chr2:232857728-242065349