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Items: 24

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:148504762
GRCh38:
Chr7:148807670
EZH2not specifiedLikely benign
(Mar 4, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr7:148504773
GRCh38:
Chr7:148807681
EZH2not providedLikely pathogenic
(Jul 20, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr7:148504818
GRCh38:
Chr7:148807726
EZH2not specifiedBenign
(Feb 12, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr7:148506396
GRCh38:
Chr7:148809304
EZH2Weaver syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr7:148507408
GRCh38:
Chr7:148810316
EZH2not specifiedLikely benign
(Jan 15, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr7:148507426
GRCh38:
Chr7:148810334
EZH2Weaver syndrome, not specifiedBenign/Likely benign
(Sep 11, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:148507447
GRCh38:
Chr7:148810355
EZH2not providedLikely pathogenic
(Jan 12, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr7:148508821
GRCh38:
Chr7:148811729
EZH2Weaver syndrome, not specifiedBenign/Likely benign
(Nov 23, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr7:148512141
GRCh38:
Chr7:148815049
EZH2not specifiedLikely benign
(Oct 21, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr7:148512657
GRCh38:
Chr7:148815565
EZH2not specifiedLikely benign
(Mar 23, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr7:148514295
GRCh38:
Chr7:148817203
EZH2not specifiedLikely benign
(Dec 8, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr7:148514960
GRCh38:
Chr7:148817868
EZH2not specifiedBenign
(Feb 12, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr7:148515090
GRCh38:
Chr7:148817998
EZH2not specifiedUncertain significance
(Feb 24, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr7:148524327
GRCh38:
Chr7:148827235
EZH2Weaver syndrome, not specifiedLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr7:148525870
GRCh38:
Chr7:148828778
EZH2not specifiedUncertain significance
(Mar 23, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr7:148525904
GRCh38:
Chr7:148828812
EZH2Weaver syndrome, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:148525907
GRCh38:
Chr7:148828815
EZH2not providedLikely pathogenic
(Feb 23, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr7:148525979
GRCh38:
Chr7:148828887
EZH2Weaver syndrome, not specifiedBenign/Likely benign
(Sep 4, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr7:148529852
GRCh38:
Chr7:148832760
EZH2Weaver syndrome, not specifiedBenign/Likely benign
(Aug 2, 2016)
criteria provided, multiple submitters, no conflicts
20.
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, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, KLF14, SSMEM1, SVOPL, MTPN, LRGUK, ASB10, PRSS58, ASZ1, RNF32, ASB15, CLEC2L, FMC1, 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, OR10AC1, 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, LOC100286906, SMKR1, ZNF783, MIR548F4, MTRNR2L6, MIR3654, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, LOC100506682, LINC00513, 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, LINC02476, LOC105375483, LOC105375504, LOC105375512, LOC105375545, LOC105375556, MNX1-AS2, LINC01022, LOC107986845
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
21.
GRCh37:
Chr7:147953676-152029620
GRCh38:
Chr7:148256584-152332535
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
22.
GRCh37:
Chr7:145397037-159089306
GRCh38:
Chr7:145699944-159296617
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr7:140453998-159100212
GRCh38:
Chr7:140754198-159307523
AOC1, BRAF, 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, SSBP1, TRB, VIPR2, XRCC2, ZYX, ARHGEF5, ZNF212, ZNF282, CUL1, MGAM, ASIC3, PDIA4, UBE3C, FAM131B, TCAF1, DNAJB6, ABCF2, FASTK, ABCB8, PAXIP1, SSPO, CLEC5A, 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, TAS2R3, TAS2R4, PRKAG2, MRPS33, NUB1, TAS2R5, CHPF2, NCAPG2, WDR60, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, TRPV5, ACTR3B, KIAA1147, ESYT2, ZNF398, KMT2C, GALNT11, LMBR1, LINC00244, NOM1, LRRC61, TMUB1, KRBA1, MGAM2, ZBED6CL, AGAP3, C7orf13, OR9A4, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, ASB10, PRSS58, RNF32, LINC00689, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, RBM33, GALNTL5, GIMAP7, ZNF467, GIMAP1, PAXIP1-AS1, C7orf33, TAS2R39, TAS2R40, TAS2R41, CNPY1, LOC285889, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, TAS2R60, BLACE, CTAGE6, OR6V1, OR2A12, OR2A1, WDR86, GSTK1, LOC389602, OR10AC1, OR2A25, IQCA1L, OR2A5, OR2A7, ATP6V0E2-AS1, OR2A42, MIR153-2, CTAGE15, OR2A2, ARHGEF35, GIMAP6, WEE2, 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, LOC100286906, ZNF783, MIR548F4, MTRNR2L6, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR5707, LOC101927914, OR2A1-AS1, LOC101928605, LOC101928700, LOC101929998, MIR6892, GHET1, LINC01287, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr7:135994730-159100212
GRCh38:
Chr7:136309982-159307523
AOC1, BRAF, CASP2, CDK5, CHRM2, CLCN1, DPP6, EN2, EPHA1, EPHB6, EZH2, GBX1, MNX1, HTR5A, INSIG1, KCNH2, KEL, NDUFB2, NOS3, 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, 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, NCAPG2, WDR60, GIMAP4, GIMAP5, TMEM176A, TRPV6, AGK, TRPV5, ZC3HAV1, ACTR3B, KIAA1147, ESYT2, ZNF398, KIAA1549, KMT2C, GALNT11, LMBR1, LINC00244, NOM1, PARP12, CREB3L2, LRRC61, TTC26, KDM7A, TMUB1, SLC37A3, KRBA1, ADCK2, ZC3HAV1L, MGAM2, ZBED6CL, AGAP3, C7orf13, OR9A4, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, PRSS37, SVOPL, ASB10, PRSS58, RNF32, CLEC2L, FMC1, 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, TAS2R60, BLACE, CTAGE6, OR6V1, OR2A12, OR2A1, KLRG2, WDR86, LOC349160, GSTK1, LOC389602, OR10AC1, OR2A25, IQCA1L, OR2A5, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, MIR153-2, CTAGE15, OR2A2, ARHGEF35, GIMAP6, WEE2, MIR490, ZNF862, MNX1-AS1, ACTR3C, MIR595, 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, LOC100286906, ZNF783, MIR548F4, MTRNR2L6, MIR3907, PRKAG2-AS1, LOC100506302, LINC01006, LOC100506585, TMEM178B, LOC100507507, GIMAP1-GIMAP5, MIR4468, MIR5707, C7orf55-LUC7L2, LOC101927914, OR2A1-AS1, LOC101928605, LOC101928700, LOC101929998, MIR6892, GHET1, LINC01287, LOC105375545, LOC105375556, MNX1-AS2, LINC01022
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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