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Items: 32

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:977079
Chr7:142481892
GRCh38:
Chr7:142774035
PRSS2, TRBPancreatitis, chronic, protection againstprotective
(Jun 1, 2006)
no assertion criteria provided
2.
GRCh37:
Chr7:130856237-159119707
GRCh38:
Chr7:131171478-159327017
AOC1, AKR1B1, BPGM, BRAF, CALD1, CASP2, CDK5, CHRM2, CLCN1, DPP6, EN2, EPHA1, EPHB6, EZH2, GBX1, MNX1, HTR5A, INSIG1, KCNH2, KEL, MKLN1, NDUFB2, NOS3, CNOT4, PIP, PODXL, PRSS1, PRSS2, TAS2R38, PTN, PTPRN2, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, AKR1D1, SSBP1, TBXAS1, TRB, VIPR2, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, TRIM24, MGAM, DGKI, ASIC3, PDIA4, UBE3C, FAM131B, TCAF1, DNAJB6, ABCF2, FASTK, ABCB8, PAXIP1, SSPO, NUP205, CLEC5A, MKRN1, CNTNAP2, GIMAP2, OR2F1, SLC13A4, TPK1, DENND2A, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, HIPK2, WDR91, REPIN1, ATP6V0A4, TAS2R3, TAS2R4, PRKAG2, LUC7L2, MRPS33, NUB1, TAS2R5, CHPF2, NCAPG2, CHCHD3, WDR60, TMEM140, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, TRPV5, ZC3HAV1, AKR1B10, ACTR3B, KIAA1147, ESYT2, ZNF398, KIAA1549, KMT2C, EXOC4, GALNT11, LMBR1, LINC00244, NOM1, PARP12, CREB3L2, LRRC61, C7orf49, TTC26, KDM7A, TMUB1, SLC37A3, KRBA1, SLC35B4, ADCK2, PLXNA4, ZC3HAV1L, MGAM2, ZBED6CL, AGAP3, C7orf13, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, SVOPL, MTPN, LRGUK, ASB10, PRSS58, RNF32, CLEC2L, C7orf55, LINC00689, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, GALNTL5, GIMAP7, ZNF467, GIMAP1, PAXIP1-AS1, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, FLJ40288, TAS2R60, BLACE, CTAGE6, AGBL3, OR6V1, OR2A12, OR2A1, STRA8, KLRG2, WDR86, LOC349160, GSTK1, FAM180A, LOC389602, OR2A25, IQCA1L, OR2A5, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, MIR153-2, AKR1B15, CTAGE15, OR2A2, ARHGEF35, GIMAP6, WEE2, MIR490, ZNF862, MNX1-AS1, C7orf73, ACTR3C, MIR595, LUZP6, MIR671, HTR5A-AS1, CTAGE4, LINC01003, LOC100129148, LOC100130880, WDR86-AS1, PAXIP1-AS2, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRC-GCA23-1, TRC-GCA15-1, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, ZNF783, MIR548F4, MTRNR2L6, MIR3654, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, MKLN1-AS, LOC100506937, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR4468, MIR5707, C7orf55-LUC7L2, LOC101927914, OR2A1-AS1, LOC101928605, LOC101928700, LOC101928782, LOC101928807, LOC101928861, LOC101929998, MIR6133, MIR6509, MIR6892, GHET1, LINC01287, LOC105375512, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
3.
GRCh37:
Chr7:139761085-144319986
GRCh38:
Chr7:140061285-144622893
See casesUncertain significance
(Mar 10, 2014)
no assertion criteria provided
4.
GRCh37:
Chr7:132122831-159119707
GRCh38:
Chr7:132438072-159327017
AOC1, AKR1B1, BPGM, BRAF, CALD1, CASP2, CDK5, CHRM2, CLCN1, DPP6, EN2, EPHA1, EPHB6, EZH2, GBX1, MNX1, HTR5A, INSIG1, KCNH2, KEL, NDUFB2, NOS3, CNOT4, PIP, PRSS1, PRSS2, TAS2R38, PTN, PTPRN2, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, AKR1D1, SSBP1, TBXAS1, TRB, VIPR2, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, TRIM24, MGAM, DGKI, ASIC3, PDIA4, UBE3C, FAM131B, TCAF1, DNAJB6, ABCF2, FASTK, ABCB8, PAXIP1, SSPO, NUP205, CLEC5A, MKRN1, CNTNAP2, GIMAP2, OR2F1, SLC13A4, TPK1, DENND2A, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, HIPK2, WDR91, REPIN1, ATP6V0A4, TAS2R3, TAS2R4, PRKAG2, LUC7L2, MRPS33, NUB1, TAS2R5, CHPF2, NCAPG2, CHCHD3, WDR60, TMEM140, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, TRPV5, ZC3HAV1, AKR1B10, ACTR3B, KIAA1147, ESYT2, ZNF398, KIAA1549, KMT2C, EXOC4, GALNT11, LMBR1, LINC00244, NOM1, PARP12, CREB3L2, LRRC61, C7orf49, TTC26, KDM7A, TMUB1, SLC37A3, KRBA1, SLC35B4, ADCK2, PLXNA4, ZC3HAV1L, MGAM2, ZBED6CL, AGAP3, C7orf13, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, SVOPL, MTPN, LRGUK, ASB10, PRSS58, RNF32, CLEC2L, C7orf55, LINC00689, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, GALNTL5, GIMAP7, ZNF467, GIMAP1, PAXIP1-AS1, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, FLJ40288, TAS2R60, BLACE, CTAGE6, AGBL3, OR6V1, OR2A12, OR2A1, STRA8, KLRG2, WDR86, LOC349160, GSTK1, FAM180A, LOC389602, OR2A25, IQCA1L, OR2A5, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, MIR153-2, AKR1B15, CTAGE15, OR2A2, ARHGEF35, GIMAP6, WEE2, MIR490, ZNF862, MNX1-AS1, C7orf73, ACTR3C, MIR595, LUZP6, MIR671, HTR5A-AS1, CTAGE4, LINC01003, LOC100129148, LOC100130880, WDR86-AS1, PAXIP1-AS2, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRC-GCA23-1, TRC-GCA15-1, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, ZNF783, MIR548F4, MTRNR2L6, MIR3654, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, LOC100506937, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR4468, MIR5707, C7orf55-LUC7L2, LOC101927914, OR2A1-AS1, LOC101928605, LOC101928700, LOC101928861, LOC101929998, MIR6133, MIR6509, MIR6892, GHET1, LINC01287, LOC105375512, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
5.
GRCh37:
Chr7:130913523-159128556
GRCh38:
Chr7:131228764-159335866
AOC1, AKR1B1, BPGM, BRAF, CALD1, CASP2, CDK5, CHRM2, CLCN1, DPP6, EN2, EPHA1, EPHB6, EZH2, GBX1, MNX1, HTR5A, INSIG1, KCNH2, KEL, MKLN1, NDUFB2, NOS3, CNOT4, PIP, PODXL, PRSS1, PRSS2, TAS2R38, PTN, PTPRN2, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, AKR1D1, SSBP1, TBXAS1, TRB, VIPR2, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, TRIM24, MGAM, DGKI, ASIC3, PDIA4, UBE3C, FAM131B, TCAF1, DNAJB6, ABCF2, FASTK, ABCB8, PAXIP1, SSPO, NUP205, CLEC5A, MKRN1, CNTNAP2, GIMAP2, OR2F1, SLC13A4, TPK1, DENND2A, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, HIPK2, WDR91, REPIN1, ATP6V0A4, TAS2R3, TAS2R4, PRKAG2, LUC7L2, MRPS33, NUB1, TAS2R5, CHPF2, NCAPG2, CHCHD3, WDR60, TMEM140, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, TRPV5, ZC3HAV1, AKR1B10, ACTR3B, KIAA1147, ESYT2, ZNF398, KIAA1549, KMT2C, EXOC4, GALNT11, LMBR1, LINC00244, NOM1, PARP12, CREB3L2, LRRC61, C7orf49, TTC26, KDM7A, TMUB1, SLC37A3, KRBA1, SLC35B4, ADCK2, PLXNA4, ZC3HAV1L, MGAM2, ZBED6CL, AGAP3, C7orf13, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, SVOPL, MTPN, LRGUK, ASB10, PRSS58, RNF32, CLEC2L, C7orf55, LINC00689, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, GALNTL5, GIMAP7, ZNF467, GIMAP1, PAXIP1-AS1, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, FLJ40288, TAS2R60, BLACE, CTAGE6, AGBL3, OR6V1, OR2A12, OR2A1, STRA8, KLRG2, WDR86, LOC349160, GSTK1, FAM180A, LOC389602, OR2A25, IQCA1L, OR2A5, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, MIR153-2, AKR1B15, CTAGE15, OR2A2, ARHGEF35, GIMAP6, WEE2, MIR490, ZNF862, MNX1-AS1, C7orf73, ACTR3C, MIR595, LUZP6, MIR671, HTR5A-AS1, CTAGE4, LINC01003, LOC100129148, LOC100130880, WDR86-AS1, PAXIP1-AS2, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRC-GCA23-1, TRC-GCA15-1, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, ZNF783, MIR548F4, MTRNR2L6, MIR3654, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, MKLN1-AS, LOC100506937, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR4468, MIR5707, C7orf55-LUC7L2, LOC101927914, OR2A1-AS1, LOC101928605, LOC101928700, LOC101928782, LOC101928807, LOC101928861, LOC101929998, MIR6133, MIR6509, MIR6892, GHET1, LINC01287, LOC105375512, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
6.
GRCh37:
Chr7:115099069-159118507
GRCh38:
Chr7:115459015-159325817
AOC1, AKR1B1, ARF5, OPN1SW, BPGM, BRAF, CALD1, CALU, CAPZA2, CASP2, CAV1, CAV2, CDK5, CFTR, CHRM2, CLCN1, CPA1, CPA2, DPP6, EN2, EPHA1, EPHB6, EZH2, FLNC, GBX1, GPR37, GRM8, MNX1, HTR5A, IMPDH1, INSIG1, IRF5, KCND2, KCNH2, KEL, LEP, MEST, MET, MKLN1, NDUFA5, NDUFB2, NOS3, CNOT4, NRF1, PAX4, PIP, PODXL, PRSS1, PRSS2, TAS2R38, PTN, PTPRN2, PTPRZ1, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, SPAM1, AKR1D1, SSBP1, TBXAS1, TRB, UBE2H, VIPR2, WNT2, XRCC2, ZYX, ST7, ARHGEF5, ZNF212, ZNF282, CUL1, TRIM24, MGAM, WASL, DGKI, ATP6V1F, ASIC3, PDIA4, UBE3C, FAM131B, TCAF1, DNAJB6, ABCF2, AASS, FAM3C, FASTK, ABCB8, TFEC, PAXIP1, KLHDC10, SSPO, NUP205, AHCYL2, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, POT1, CNTNAP2, TES, GIMAP2, OR2F1, SLC13A4, COPG2, TPK1, SND1, SND1-IT1, DENND2A, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, HIPK2, WDR91, REPIN1, HILPDA, FSCN3, ATP6V0A4, TAS2R3, TAS2R4, TAS2R16, CPA4, WNT16, PRKAG2, ZC3HC1, LUC7L2, MRPS33, NUB1, LSM8, COPG2IT1, TAS2R5, CHPF2, ING3, NCAPG2, CHCHD3, WDR60, RBM28, TMEM140, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, METTL2B, TRPV5, ANKRD7, ZC3HAV1, AKR1B10, ACTR3B, KIAA1147, STRIP2, ESYT2, ZNF398, KIAA1549, KMT2C, EXOC4, GALNT11, LRRC4, LMBR1, LINC00244, NOM1, CCDC136, PARP12, CREB3L2, LRRC61, C7orf49, GCC1, CPED1, TTC26, KDM7A, TMUB1, CTTNBP2, SLC37A3, KRBA1, FAM71F1, SLC35B4, TMEM209, ADCK2, PLXNA4, ZC3HAV1L, MGAM2, ST7-AS1, ST7-AS2, ST7-OT3, CADPS2, CPA5, CEP41, ZBED6CL, TSGA13, AGAP3, C7orf13, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, KLF14, SSMEM1, SVOPL, MTPN, LRGUK, ASB10, PRSS58, ASZ1, RNF32, ASB15, CLEC2L, C7orf55, LINC00689, FEZF1-AS1, IQUB, C7orf77, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, MGC27345, GALNTL5, RNF133, GIMAP7, ZNF467, ZNF800, GIMAP1, PAXIP1-AS1, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, FLJ40288, MESTIT1, ST7-OT4, TAS2R60, BLACE, CTAGE6, TSPAN33, AGBL3, OR6V1, OR2A12, OR2A1, FAM71F2, STRA8, KLRG2, WDR86, LOC349160, GSTK1, KCP, LINC-PINT, RNF148, FEZF1, FAM180A, LOC389602, OR2A25, IQCA1L, OR2A5, POT1-AS1, PRRT4, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, LINC01000, MIR129-1, MIR153-2, MIR182, MIR183, MIR29A, MIR29B1, MIR96, AKR1B15, CTAGE15, OR2A2, LMOD2, MIR335, ARHGEF35, GIMAP6, WEE2, MIR490, ZNF862, MNX1-AS1, C7orf73, ACTR3C, MIR592, MIR593, MIR595, TMEM229A, LUZP6, MIR671, HTR5A-AS1, CTAGE4, LINC01003, LOC100129148, LOC100130705, LOC100130880, WDR86-AS1, PAXIP1-AS2, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRC-GCA23-1, TRC-GCA15-1, TRP-AGG2-3, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, SMKR1, ZNF783, MIR548F4, MTRNR2L6, MIR3654, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, LOC100506682, LOC100506860, MKLN1-AS, LOC100506937, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR4468, MIR5707, LINC01510, C7orf55-LUC7L2, LOC101927914, LOC101928211, LOC101928254, LOC101928283, LOC101928333, OR2A1-AS1, LOC101928605, LOC101928700, LOC101928782, LOC101928807, LOC101928861, LOC101929998, MIR6133, MIR6509, MIR6892, MIR6132, GHET1, LOC102724434, LOC102724555, LINC01287, LVCAT5, LOC105375483, LOC105375504, LOC105375512, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
7.
GRCh37:
Chr7:932343-1033971
GRCh38:
Chr7:770815-853279
See casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
8.
GRCh37:
Chr7:132128854-159128556
GRCh38:
Chr7:132444095-159335866
AOC1, AKR1B1, BPGM, BRAF, CALD1, CASP2, CDK5, CHRM2, CLCN1, DPP6, EN2, EPHA1, EPHB6, EZH2, GBX1, MNX1, HTR5A, INSIG1, KCNH2, KEL, NDUFB2, NOS3, CNOT4, PIP, PRSS1, PRSS2, TAS2R38, PTN, PTPRN2, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, AKR1D1, SSBP1, TBXAS1, TRB, VIPR2, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, TRIM24, MGAM, DGKI, ASIC3, PDIA4, UBE3C, FAM131B, TCAF1, DNAJB6, ABCF2, FASTK, ABCB8, PAXIP1, SSPO, NUP205, CLEC5A, MKRN1, CNTNAP2, GIMAP2, OR2F1, SLC13A4, TPK1, DENND2A, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, HIPK2, WDR91, REPIN1, ATP6V0A4, TAS2R3, TAS2R4, PRKAG2, LUC7L2, MRPS33, NUB1, TAS2R5, CHPF2, NCAPG2, CHCHD3, WDR60, TMEM140, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, TRPV5, ZC3HAV1, AKR1B10, ACTR3B, KIAA1147, ESYT2, ZNF398, KIAA1549, KMT2C, EXOC4, GALNT11, LMBR1, LINC00244, NOM1, PARP12, CREB3L2, LRRC61, C7orf49, TTC26, KDM7A, TMUB1, SLC37A3, KRBA1, SLC35B4, ADCK2, PLXNA4, ZC3HAV1L, MGAM2, ZBED6CL, AGAP3, C7orf13, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, SVOPL, MTPN, LRGUK, ASB10, PRSS58, RNF32, CLEC2L, C7orf55, LINC00689, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, GALNTL5, GIMAP7, ZNF467, GIMAP1, PAXIP1-AS1, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, FLJ40288, TAS2R60, BLACE, CTAGE6, AGBL3, OR6V1, OR2A12, OR2A1, STRA8, KLRG2, WDR86, LOC349160, GSTK1, FAM180A, LOC389602, OR2A25, IQCA1L, OR2A5, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, MIR153-2, AKR1B15, CTAGE15, OR2A2, ARHGEF35, GIMAP6, WEE2, MIR490, ZNF862, MNX1-AS1, C7orf73, ACTR3C, MIR595, LUZP6, MIR671, HTR5A-AS1, CTAGE4, LINC01003, LOC100129148, LOC100130880, WDR86-AS1, PAXIP1-AS2, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRC-GCA23-1, TRC-GCA15-1, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, ZNF783, MIR548F4, MTRNR2L6, MIR3654, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, LOC100506937, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR4468, MIR5707, C7orf55-LUC7L2, LOC101927914, OR2A1-AS1, LOC101928605, LOC101928700, LOC101928861, LOC101929998, MIR6133, MIR6509, MIR6892, GHET1, LINC01287, LOC105375512, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Jun 5, 2012)
no assertion criteria provided
9.
GRCh37:
Chr7:932888-1033971
GRCh38:
Chr7:770815-853279
See casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
10.
GRCh37:
Chr7:134702438-148504492
GRCh38:
Chr7:135017687-148807400
BRAF, CASP2, CHRM2, CLCN1, EPHA1, EPHB6, EZH2, KEL, NDUFB2, CNOT4, PIP, PRSS1, PRSS2, TAS2R38, PTN, AKR1D1, SSBP1, TBXAS1, TRB, ZYX, ARHGEF5, CUL1, TRIM24, MGAM, DGKI, FAM131B, TCAF1, NUP205, CLEC5A, MKRN1, CNTNAP2, OR2F1, SLC13A4, TPK1, DENND2A, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, HIPK2, WDR91, ATP6V0A4, TAS2R3, TAS2R4, LUC7L2, MRPS33, TAS2R5, TMEM140, TRPV6, AGK, TRPV5, ZC3HAV1, KIAA1147, KIAA1549, PARP12, CREB3L2, C7orf49, TTC26, KDM7A, SLC37A3, ADCK2, ZC3HAV1L, MGAM2, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, PRSS37, SVOPL, MTPN, PRSS58, CLEC2L, C7orf55, TMEM213, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, WEE2-AS1, EPHA1-AS1, TCAF2, TAS2R60, CTAGE6, AGBL3, OR6V1, OR2A12, OR2A1, STRA8, KLRG2, LOC349160, GSTK1, FAM180A, OR2A25, OR2A5, RAB19, OR2A7, OR2A42, CTAGE15, OR2A2, ARHGEF35, WEE2, MIR490, C7orf73, LUZP6, CTAGE4, LOC100129148, LOC100130880, JHDM1D-AS1, NDUFB2-AS1, CTAGE8, TRR-CCT4-1, MIR548F4, MTRNR2L6, TMEM178B, LOC100507507, MIR4468, C7orf55-LUC7L2, OR2A1-AS1, LOC101928605, LOC101928700, MIR6509, MIR6892, LOC105375545, LOC105375556
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
11.
GRCh37:
Chr7:121503813-159128555
GRCh38:
Chr7:121863759-159335865
AOC1, AKR1B1, ARF5, OPN1SW, BPGM, BRAF, CALD1, CALU, CASP2, CDK5, CHRM2, CLCN1, CPA1, CPA2, DPP6, EN2, EPHA1, EPHB6, EZH2, FLNC, GBX1, GPR37, GRM8, MNX1, HTR5A, IMPDH1, INSIG1, IRF5, KCNH2, KEL, LEP, MEST, MKLN1, NDUFA5, NDUFB2, NOS3, CNOT4, NRF1, PAX4, PIP, PODXL, PRSS1, PRSS2, TAS2R38, PTN, PTPRN2, PTPRZ1, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, SPAM1, AKR1D1, SSBP1, TBXAS1, TRB, UBE2H, VIPR2, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, TRIM24, MGAM, WASL, DGKI, ATP6V1F, ASIC3, PDIA4, UBE3C, FAM131B, TCAF1, DNAJB6, ABCF2, AASS, FASTK, ABCB8, PAXIP1, KLHDC10, SSPO, NUP205, AHCYL2, TNPO3, HYAL4, CLEC5A, MKRN1, POT1, CNTNAP2, GIMAP2, OR2F1, SLC13A4, COPG2, TPK1, SND1, SND1-IT1, DENND2A, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, HIPK2, WDR91, REPIN1, HILPDA, FSCN3, ATP6V0A4, TAS2R3, TAS2R4, TAS2R16, CPA4, PRKAG2, ZC3HC1, LUC7L2, MRPS33, NUB1, COPG2IT1, TAS2R5, CHPF2, NCAPG2, CHCHD3, WDR60, RBM28, TMEM140, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, METTL2B, TRPV5, ZC3HAV1, AKR1B10, ACTR3B, KIAA1147, STRIP2, ESYT2, ZNF398, KIAA1549, KMT2C, EXOC4, GALNT11, LRRC4, LMBR1, LINC00244, NOM1, CCDC136, PARP12, CREB3L2, LRRC61, C7orf49, GCC1, TTC26, KDM7A, TMUB1, SLC37A3, KRBA1, FAM71F1, SLC35B4, TMEM209, ADCK2, PLXNA4, ZC3HAV1L, MGAM2, CADPS2, CPA5, CEP41, ZBED6CL, TSGA13, AGAP3, C7orf13, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, KLF14, SSMEM1, SVOPL, MTPN, LRGUK, ASB10, PRSS58, RNF32, ASB15, CLEC2L, C7orf55, LINC00689, FEZF1-AS1, IQUB, C7orf77, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, MGC27345, GALNTL5, RNF133, GIMAP7, ZNF467, ZNF800, GIMAP1, PAXIP1-AS1, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, FLJ40288, MESTIT1, TAS2R60, BLACE, CTAGE6, TSPAN33, AGBL3, OR6V1, OR2A12, OR2A1, FAM71F2, STRA8, KLRG2, WDR86, LOC349160, GSTK1, KCP, LINC-PINT, RNF148, FEZF1, FAM180A, LOC389602, OR2A25, IQCA1L, OR2A5, POT1-AS1, PRRT4, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, LINC01000, MIR129-1, MIR153-2, MIR182, MIR183, MIR29A, MIR29B1, MIR96, AKR1B15, CTAGE15, OR2A2, LMOD2, MIR335, ARHGEF35, GIMAP6, WEE2, MIR490, ZNF862, MNX1-AS1, C7orf73, ACTR3C, MIR592, MIR593, MIR595, TMEM229A, LUZP6, MIR671, HTR5A-AS1, CTAGE4, LINC01003, LOC100129148, LOC100130705, LOC100130880, WDR86-AS1, PAXIP1-AS2, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRC-GCA23-1, TRC-GCA15-1, TRP-AGG2-3, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, SMKR1, ZNF783, MIR548F4, MTRNR2L6, MIR3654, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, LOC100506682, LOC100506860, MKLN1-AS, LOC100506937, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR4468, MIR5707, C7orf55-LUC7L2, LOC101927914, LOC101928211, LOC101928254, LOC101928283, LOC101928333, OR2A1-AS1, LOC101928605, LOC101928700, LOC101928782, LOC101928807, LOC101928861, LOC101929998, MIR6133, MIR6509, MIR6892, GHET1, LOC102724555, LINC01287, LOC105375483, LOC105375504, LOC105375512, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
12.
GRCh37:
Chr7:933553-1033971
GRCh38:
Chr7:770815-853279
See casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
13.
GRCh37:
Chr7:134351581-158384574
GRCh38:
Chr7:134666829-158591882
AOC1, BPGM, BRAF, CALD1, CASP2, CDK5, CHRM2, CLCN1, DPP6, EN2, EPHA1, EPHB6, EZH2, GBX1, MNX1, HTR5A, INSIG1, KCNH2, KEL, NDUFB2, NOS3, CNOT4, PIP, PRSS1, PRSS2, TAS2R38, PTN, PTPRN2, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, AKR1D1, SSBP1, TBXAS1, TRB, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, TRIM24, MGAM, DGKI, ASIC3, PDIA4, UBE3C, FAM131B, TCAF1, DNAJB6, ABCF2, FASTK, ABCB8, PAXIP1, SSPO, NUP205, CLEC5A, MKRN1, CNTNAP2, GIMAP2, OR2F1, SLC13A4, TPK1, DENND2A, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, HIPK2, WDR91, REPIN1, ATP6V0A4, TAS2R3, TAS2R4, PRKAG2, LUC7L2, MRPS33, NUB1, TAS2R5, CHPF2, TMEM140, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, TRPV5, ZC3HAV1, ACTR3B, KIAA1147, ZNF398, KIAA1549, KMT2C, GALNT11, LMBR1, LINC00244, NOM1, PARP12, CREB3L2, LRRC61, C7orf49, TTC26, KDM7A, TMUB1, SLC37A3, KRBA1, ADCK2, ZC3HAV1L, MGAM2, ZBED6CL, AGAP3, C7orf13, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, SVOPL, MTPN, ASB10, PRSS58, RNF32, CLEC2L, C7orf55, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, GALNTL5, GIMAP7, ZNF467, GIMAP1, PAXIP1-AS1, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, TAS2R60, BLACE, CTAGE6, AGBL3, OR6V1, OR2A12, OR2A1, STRA8, KLRG2, WDR86, LOC349160, GSTK1, FAM180A, LOC389602, OR2A25, IQCA1L, OR2A5, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, MIR153-2, CTAGE15, OR2A2, ARHGEF35, GIMAP6, WEE2, MIR490, ZNF862, MNX1-AS1, C7orf73, ACTR3C, MIR595, LUZP6, MIR671, HTR5A-AS1, CTAGE4, LINC01003, LOC100129148, LOC100130880, WDR86-AS1, PAXIP1-AS2, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRC-GCA23-1, TRC-GCA15-1, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, ZNF783, MIR548F4, MTRNR2L6, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR4468, MIR5707, C7orf55-LUC7L2, LOC101927914, OR2A1-AS1, LOC101928605, LOC101928700, LOC101929998, MIR6509, MIR6892, GHET1, LINC01287, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Jan 23, 2012)
no assertion criteria provided
14.
GRCh37:
Chr7:379741-982389
GRCh38:
Chr7:142237788-142779344
See casesLikely benign
(Nov 4, 2011)
no assertion criteria provided
15.
GRCh37:
Chr7:142528609-159128556
GRCh38:
Chr7:141960861-159335866
AOC1, CASP2, CDK5, CLCN1, DPP6, EN2, EPHA1, EPHB6, EZH2, GBX1, MNX1, HTR5A, INSIG1, KCNH2, KEL, NOS3, PIP, PRSS1, PRSS2, TAS2R38, PTPRN2, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, TRB, VIPR2, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, MGAM, ASIC3, PDIA4, UBE3C, FAM131B, TCAF1, DNAJB6, ABCF2, FASTK, ABCB8, PAXIP1, SSPO, CNTNAP2, GIMAP2, OR2F1, TPK1, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, REPIN1, PRKAG2, NUB1, CHPF2, NCAPG2, WDR60, GIMAP4, GIMAP5, TMEM176A, TRPV6, TRPV5, ACTR3B, ESYT2, ZNF398, KMT2C, GALNT11, LMBR1, LINC00244, NOM1, LRRC61, TMUB1, KRBA1, MGAM2, ZBED6CL, AGAP3, C7orf13, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, ASB10, PRSS58, RNF32, LINC00689, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, GALNTL5, GIMAP7, ZNF467, GIMAP1, PAXIP1-AS1, C7orf33, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, TAS2R60, BLACE, CTAGE6, OR6V1, OR2A12, OR2A1, WDR86, GSTK1, LOC389602, OR2A25, IQCA1L, OR2A5, OR2A7, ATP6V0E2-AS1, OR2A42, MIR153-2, CTAGE15, OR2A2, ARHGEF35, GIMAP6, ZNF862, MNX1-AS1, ACTR3C, MIR595, MIR671, HTR5A-AS1, CTAGE4, LINC01003, WDR86-AS1, PAXIP1-AS2, LOC100134040, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRC-GCA23-1, TRC-GCA15-1, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRC-GCA9-2, TRS-AGA5-1, ZNF783, MIR548F4, MTRNR2L6, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, LOC100507507, GIMAP1-GIMAP5, MIR5707, LOC101927914, OR2A1-AS1, LOC101928605, LOC101928700, LOC101929998, MIR6892, GHET1, LINC01287, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Mar 9, 2012)
no assertion criteria provided
16.
GRCh37:
Chr7:97049164-158716453
GRCh38:
Chr7:97419852-158923762
AOC1, ACHE, AKR1B1, ARF5, ASNS, AZGP1, OPN1SW, BPGM, BRAF, CALD1, CALU, CAPZA2, CASP2, CAV1, CAV2, CDK5, CFTR, CHRM2, AP1S1, CLCN1, CPA1, CPA2, CUX1, CYP3A7, CYP3A4, CYP3A5, DLD, DPP6, SLC26A3, EN2, EPHA1, EPHB4, EPHB6, EPO, EZH2, FLNC, GBX1, GNB2, GPR22, GPR37, GRM8, MNX1, AGFG2, HTR5A, IFRD1, IMPDH1, INSIG1, IRF5, KCND2, KCNH2, KEL, LAMB1, LEP, LRCH4, MCM7, DNAJB9, MEST, MET, MKLN1, MUC3A, NDUFA5, NDUFB2, NOS3, CNOT4, NPTX2, NRCAM, NRF1, OCM2, ORC5, SERPINE1, PAX4, PCOLCE, SLC26A4, PIK3CG, PIP, PMS2P1, PODXL, POLR2J, PPP1R3A, PRKAR2B, PRSS1, PRSS2, RELN, PSMC2, TAS2R38, PTN, PTPRN2, PTPRZ1, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, SPAM1, AKR1D1, SRPK2, SSBP1, SYPL1, TAC1, TAF6, TBXAS1, TRB, TFR2, TRIP6, UBE2H, VGF, ZAN, WNT2, XRCC2, ZNF3, ZKSCAN1, ZSCAN21, ZYX, ST7, ARHGEF5, ZNF212, TRRAP, ZNF282, CUL1, TRIM24, BUD31, MGAM, WASL, PLOD3, DGKI, AP4M1, ATP6V1F, ASIC3, PMPCB, ATP5J2, PDIA4, UBE3C, FAM131B, DOCK4, TCAF1, DNAJB6, ABCF2, MUC12, ARPC1B, NAMPT, RASA4, AASS, LRRC17, POP7, FAM3C, COG5, ZNHIT1, ARPC1A, SH2B2, STAG3, CPSF4, FASTK, COPS6, DUS4L, ZNF277, ABCB8, PDAP1, TFEC, LAMB4, LMTK2, PAXIP1, KLHDC10, SSPO, NUP205, AHCYL2, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, ZKSCAN5, CLDN15, BRI3, TECPR1, POT1, PTCD1, CNTNAP2, TES, GIMAP2, OR2F1, FBXO24, SLC13A4, COPG2, HBP1, DNAJC2, TPK1, SND1, SND1-IT1, DENND2A, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, HIPK2, WDR91, REPIN1, HILPDA, MDFIC, PILRB, PILRA, FSCN3, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, CPA4, WNT16, ACTL6B, PRKAG2, ZC3HC1, SRRT, LUC7L2, MRPS33, NUB1, LSM8, COPG2IT1, GPR85, TAS2R5, CHPF2, PUS7, ING3, LRRN3, ALKBH4, NCAPG2, CHCHD3, ZCWPW1, WDR60, RBM28, C7orf43, TMEM140, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, METTL2B, KMT2E, BAIAP2L1, BCAP29, MEPCE, TRPV5, ANKRD7, ZC3HAV1, SLC12A9, AKR1B10, SMURF1, ACTR3B, KIAA1147, STRIP2, ESYT2, ZNF398, KIAA1549, NFE4, KMT2C, EXOC4, RINT1, GALNT11, LRRC4, LMBR1, TMEM168, LINC00244, NOM1, MOSPD3, GIGYF1, CCDC136, PARP12, CREB3L2, IFT22, CYP3A43, LRRC61, C7orf49, ZNF655, PVRIG, GCC1, GAL3ST4, PRKRIP1, CBLL1, CPED1, TTC26, ORAI2, KDM7A, OR2AE1, TSC22D4, TRIM56, TMUB1, ARMC10, IMMP2L, CTTNBP2, ZNF394, MYH16, SLC37A3, KRBA1, FAM71F1, SLC35B4, TMEM209, TRIM4, ADCK2, PLXNA4, ZC3HAV1L, MYL10, MGAM2, ST7-AS1, ST7-AS2, ST7-OT3, CADPS2, CPA5, FOXP2, CEP41, ZBED6CL, TSGA13, AGAP3, C7orf13, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, SVOPL, MTPN, LRGUK, ASB10, PRSS58, ASZ1, MUC17, RNF32, ASB15, BMT2, CLEC2L, C7orf55, FEZF1-AS1, IQUB, C7orf77, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, MGC27345, GALNTL5, RNF133, THAP5, CCDC71L, GIMAP7, ZNF467, BHLHA15, ZNF800, GIMAP1, PAXIP1-AS1, C7orf33, ZSCAN25, FAM200A, PPP1R35, GPC2, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, NYAP1, CNPY4, POLR2J2, UBN2, MBLAC1, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, ZNF789, SLC26A4-AS1, LSMEM1, FLJ40288, MESTIT1, ST7-OT4, TAS2R60, BLACE, CTAGE6, TSPAN33, AGBL3, OR6V1, OR2A12, OR2A1, MOGAT3, FAM71F2, STRA8, KLRG2, WDR86, GJC3, LOC349160, GATS, GSTK1, NAT16, SLC26A5, LHFPL3, KCP, LINC-PINT, RNF148, LAMTOR4, FEZF1, FAM180A, LOC389602, OR2A25, IQCA1L, OR2A5, LINC00998, POT1-AS1, PRRT4, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, LINC01000, KPNA7, C7orf61, UFSP1, MIR106B, MIR129-1, MIR153-2, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, SPDYE3, SPDYE2, AKR1B15, CTAGE15, OR2A2, LMOD2, MIR335, ARHGEF35, GIMAP6, WEE2, POLR2J3, MIR490, ZNF862, MNX1-AS1, LHFPL3-AS1, C7orf73, ACTR3C, MIR592, MIR593, MIR595, LHFPL3-AS2, SPDYE6, TMEM229A, LUZP6, MIR671, HTR5A-AS1, CTAGE4, LINC01003, LOC100129148, PCOLCE-AS1, LOC100130705, EFCAB10, LOC100130880, WDR86-AS1, PAXIP1-AS2, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, UPK3BL, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRW-CCA5-1, TRC-GCA23-1, TRC-GCA15-1, TRP-AGG2-3, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, KMT2E-AS1, LINC01004, RASA4B, SMKR1, GS1-259H13.2, LOC100289561, ZNF783, SPDYE2B, MIR548O, MIR548F4, SAP25, MIR4285, MTRNR2L6, MIR3654, MIR3609, MIR3907, MIR3666, PRKAG2-AS1, LOC100506302, LINC01006, DOCK4-AS1, LINC01007, LOC100506585, LOC100506682, LOC100506860, MKLN1-AS, LOC100506937, TMEM178B, LOC100507507, ATP5J2-PTCD1, GIMAP1-GIMAP5, MIR4653, MIR4468, MIR4467, MIR4658, LOC100630923, MIR5692C2, MIR5707, MIR5692A1, MIR5090, CYP3A7-CYP3A51P, LOC100996249, LINC01510, C7orf55-LUC7L2, STAG3L5P-PVRIG2P-PILRB, LOC101927550, ZASP, LOC101927746, LOC101927870, LOC101927914, LOC101928012, HRAT17, LOC101928211, LOC101928254, LOC101928283, LOC101928333, OR2A1-AS1, LOC101928605, LOC101928700, LOC101928782, LOC101928807, LOC101928861, LOC101929998, MIR6133, MIR6509, MIR6892, MIR6132, MIR6840, MIR6875, GHET1, LOC102724094, LOC102724187, LINC01393, LOC102724434, LOC102724555, LINC01287, LINC01392, LOC105375429, LVCAT5, LOC105375483, LOC105375504, LOC105375512, LOC105375545, LOC105375556, MNX1-AS2, LINC01022, SCARNA28
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
17.
GRCh37:
Chr7:137435946-154607292
GRCh38:
Chr7:137751200-154815582
AOC1, BRAF, CASP2, CDK5, CLCN1, DPP6, EPHA1, EPHB6, EZH2, GBX1, KCNH2, KEL, NDUFB2, NOS3, PIP, PRSS1, PRSS2, TAS2R38, RARRES2, RHEB, RNY1, RNY3, RNY4, RNY5, SLC4A2, SMARCD3, AKR1D1, SSBP1, TBXAS1, TRB, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, TRIM24, MGAM, DGKI, ASIC3, PDIA4, FAM131B, TCAF1, ABCF2, FASTK, ABCB8, SSPO, CLEC5A, MKRN1, CNTNAP2, GIMAP2, OR2F1, TPK1, DENND2A, ZNF777, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, HIPK2, REPIN1, ATP6V0A4, TAS2R3, TAS2R4, PRKAG2, LUC7L2, MRPS33, NUB1, TAS2R5, CHPF2, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, TRPV5, ZC3HAV1, ACTR3B, KIAA1147, ZNF398, KIAA1549, KMT2C, GALNT11, PARP12, CREB3L2, LRRC61, TTC26, KDM7A, TMUB1, SLC37A3, KRBA1, ADCK2, ZC3HAV1L, MGAM2, ZBED6CL, AGAP3, OR9A4, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, SVOPL, ASB10, PRSS58, CLEC2L, C7orf55, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, GALNTL5, GIMAP7, ZNF467, GIMAP1, C7orf33, UBN2, TAS2R39, TAS2R40, TAS2R41, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, TAS2R60, CTAGE6, OR6V1, OR2A12, OR2A1, KLRG2, WDR86, GSTK1, OR2A25, IQCA1L, OR2A5, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, CTAGE15, OR2A2, ARHGEF35, GIMAP6, WEE2, ZNF862, ACTR3C, MIR671, CTAGE4, LINC01003, LOC100129148, LOC100130880, WDR86-AS1, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRC-GCA23-1, TRC-GCA15-1, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, ZNF783, MIR548F4, MTRNR2L6, MIR3907, PRKAG2-AS1, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR4468, C7orf55-LUC7L2, OR2A1-AS1, LOC101928605, LOC101928700, LOC101929998, MIR6892, GHET1, LINC01287, LOC105375545, LOC105375556
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
18.
GRCh37:
Chr7:935727-963174
GRCh38:
Chr7:142753059-142778670
PRSS1, PRSS2, TRBSee casesBenign
(Mar 8, 2011)
no assertion criteria provided
19.
GRCh37:
Chr7:904163-982389
GRCh38:
Chr7:142721510-142779344
PRSS1, PRSS2, TRB, TRBV29-1See casesBenign
(Oct 14, 2010)
no assertion criteria provided
20.
GRCh37:
Chr7:54185-159075079
GRCh38:
Chr7:54185-159282390
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, DFNA5, DLD, DLX5, DLX6, DYNC1I1, DPP6, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, GBAS, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2P1, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, PRSS2, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TRG, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SHFM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, PSPHP1, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5J2, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, KIAA0087, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, ABCB8, TP53TG1, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, SND1-IT1, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, BZW2, DBNL, HIPK2, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRB, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, COPG2IT1, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, C7orf43, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, WBSCR17, TMEM168, LINC00244, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, C7orf49, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MYH16, FAM188B, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, LINC00525, MGC16142, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, MGAM2, ST7-AS1, ST7-AS2, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, WBSCR22, PSMG3-AS1, TSGA13, GPR146, MALSU1, AGAP3, C7orf13, OR9A4, WBSCR28, TRIM50, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, C7orf55, VKORC1L1, LINC00689, FEZF1-AS1, IQUB, C7orf77, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, WBSCR27, VPS37D, RBM33, AGR3, MGC27345, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, PAXIP1-AS1, C7orf33, TMEM184A, SAMD9L, C7orf62, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, VSTM2A, DKFZp434L192, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, LINC00957, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, VSTM2A-OT1, CNPY1, LOC285889, LINC00174, C7orf71, HOXA-AS2, INHBA-AS1, SPDYE1, SNHG15, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, DLX6-AS1, ZNF789, SLC26A4-AS1, LSMEM1, FLJ40288, MESTIT1, ST7-OT4, TAS2R60, BLACE, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPT14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, LINC00265, WDR86, GJC3, LOC349160, GATS, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, LINC-PINT, RNF148, NPSR1, RBAKDN, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, LOC389602, OR2A25, ELFN1, AGMO, IQCA1L, GRID2IP, OR2A5, LOC401312, LOC401320, LINC00997, LOC401324, C7orf65, LINC01446, LOC401357, LRRD1, C7orf76, LINC00998, POT1-AS1, PRRT4, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, LINC01000, KPNA7, C7orf61, GRIFIN, UFSP1, NPSR1-AS1, MIR106B, MIR129-1, MIR148A, MIR153-2, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, LOC441204, ZNF716, LOC441242, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, HRAT92, ZNF727, OR2A2, LOC442497, SPDYE5, LMOD2, MIR335, MIR339, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, MIR490, CYP51A1-AS1, SEPT7P2, ZNF862, WIPF3, LOC644794, MNX1-AS1, LHFPL3-AS1, LOC646762, C7orf73, NCF1, ACTR3C, OCM, SNORA5A, SNORA5B, SNORA5C, SNORA9, SNORA14A, SNORA15, SNORA22, SNORD93, MIR550A1, MIR550A2, MIR589, MIR590, MIR591, MIR592, MIR593, MIR595, LHFPL3-AS2, MIR653, RSPH10B2, ZNF736, GATSL2, SPDYE6, UMAD1, ISPD, TMEM229A, ZNF735, LOC730338, LUZP6, MIR671, TSL, POM121C, HECW1-IT1, JAZF1-AS1, HTR5A-AS1, LOC100128317, LOC100128364, CTAGE4, LINC01003, LOC100128885, LOC100129148, DDC-AS1, LOC100129603, PCOLCE-AS1, LOC100130705, EFCAB10, LOC100130880, C7orf72, ZNF316, WDR86-AS1, PAXIP1-AS2, LOC100133091, HOXA-AS3, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, UPK3BL, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRW-CCA5-1, TRC-GCA23-1, TRC-GCA15-1, TRP-AGG2-3, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, KMT2E-AS1, LINC01004, LOC100240728, RASA4B, SMKR1, LOC100287704, LOC100287834, WI2-2373I1.2, GS1-124K5.4, GS1-259H13.2, LOC100289561, ZNF783, MIR1200, MIR1183, MIR1302-6, MIR548N, MIR1285-1, SPDYE2B, ANKRD61, MIR548O, MIR548F4, HOTTIP, SAP25, MIR4283-2, MIR4285, MIR4283-1, MIR3147, MIR4284, MIR3146, MTRNR2L6, MIR3654, MIR3609, MIR3943, MIR550B2, MIR3907, MIR3914-1, MIR550B1, MIR3683, MIR3666, MIR3914-2, PRKAG2-AS1, SPDYE18, APTR, MAGI2-AS3, LINC00972, LOC100505921, LOC100505938, ISPD-AS1, LRRC72, LINC01005, LOC100506098, LOC100506136, LOC100506178, LOC100506302, HOTAIRM1, LINC01006, DOCK4-AS1, LOC100506497, LINC01176, LINC01007, LOC100506585, LOC100506682, LOC100506725, TRG-AS1, LOC100506860, MKLN1-AS, LOC100506895, LOC100506937, TMEM178B, LOC100507468, EGFR-AS1, LOC100507507, LOC100507642, ATP5J2-PTCD1, INMT-FAM188B, GIMAP1-GIMAP5, RBAK-RBAKDN, HOXA10-HOXA9, URGCP-MRPS24, MIR4648, MIR4653, MIR4655, MIR4652, MIR4468, MIR4651, MIR4650-1, MIR4650-2, MIR4649, MIR550A3, MIR4467, MIR4657, MIR4658, MIR4656, LOC100630923, LOC100653233, POU6F2-AS2, KLHL7-AS1, MIR5692C2, MIR5707, MIR5692A1, MIR5090, ELMO1-AS1, POU6F2-AS1, CYP3A7-CYP3A51P, RNU6-10P, MAGI2-AS2, MACC1-AS1, STEAP2-AS1, AOAH-IT1, HOXA10-AS, RNF216-IT1, LOC100996249, LINC01510, LOC100996437, LOC100996654, SPDYE11, C7orf55-LUC7L2, EVX1-AS, STAG3L5P-PVRIG2P-PILRB, LOC101926943, LOC101926963, LOC101927000, LOC101927021, ELFN1-AS1, LOC101927181, LOC101927243, LOC101927269, LOC101927354, LOC101927356, LOC101927378, LOC101927391, LOC101927420, LOC101927446, LOC101927497, MEOX2-AS1, LOC101927550, LOC101927630, ZASP, LOC101927668, LOC101927746, LOC101927769, LOC101927811, LOC101927870, LOC101927914, LOC101928012, HRAT17, LOC101928168, LOC101928211, LOC101928254, LOC101928283, LOC101928333, LOC101928401, OR2A1-AS1, SEPT7-AS1, LOC101928605, LOC101928618, LOC101928700, LINC01450, LINC01449, LOC101928782, LINC01448, LOC101928807, LOC101928861, LINC01447, LOC101929580, LINC01372, LOC101929998, LOC101930085, MIR6133, MIR6509, MIR6836, MIR6838, MIR6839, MIR6892, MIR6874, MIR6132, MIR6840, MIR6875, MIR6837, KCCAT333, GHET1, LOC102723427, SPDYE16, LINC01445, LOC102723672, SPDYE17, LOC102723885, LOC102724094, LOC102724187, LINC01393, LOC102724434, LOC102724484, LOC102724555, DPY19L1P2, LOC102725191, ELDR, LINC01287, LINC01162, LINC01392, LOC105369146, LOC105375115, LOC105375166, LOC105375218, LOC105375297, LOC105375304, LINC00972, LOC105375396, LOC105375401, LOC105375429, LVCAT5, LOC105375483, LOC105375504, LOC105375512, LOC105375545, LOC105375556, MNX1-AS2, LINC01022, SCARNA28
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
21.
GRCh37:
Chr7:140826207-145349314
GRCh38:
Chr7:141126407-145652221
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
22.
GRCh37:
Chr7:142528609-159075220
GRCh38:
Chr7:142358524-159282531