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Items: 41

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
LCATNorum diseasePathogenic
(Dec 31, 1991)
no assertion criteria provided
2.
GRCh37:
Chr16:46615804-90142285
AARS, ADCY7, AP1G1, AFG3L1P, AGRP, AMFR, APRT, ZFHX3, BBS2, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CES1, CETP, CNGB1, COX4I1, CSNK2A2, CTRB1, CTRL, CYBA, CYLD, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, GLG1, GNAO1, GOT2, NR3C1P1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, MC1R, CHST6, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1JP, MT1M, MT1L, MT1X, MT2A, MT3, MVD, NFATC3, CHMP1A, PHKB, PLCG2, POLR2C, PSKH1, PSMB10, PSMD7, RBL2, RPL13, RRAD, SALL1, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, ADGRG1, BCAR1, VPS9D1, N4BP1, NUP93, HERPUD1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, IRX5, DNAJA2, KATNB1, EMC8, TUBB3, CFDP1, CTCF, NFAT5, NUDT21, WWP2, PRDM7, DDX19B, GABARAPL2, MON1B, TCF25, CNOT1, PHLPP2, ZNF423, ZCCHC14, GSE1, ATMIN, RPGRIP1L, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, ARL2BP, ORC6, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, CPNE7, VPS4A, IL17C, TOX3, NOB1, CCDC113, TMEM208, CFAP20, FHOD1, BRD7, ANKRD11, ZDHHC1, OSGIN1, PARD6A, PLLP, CKLF, NIP7, FAM96B, GINS2, TPPP3, TRAPPC2L, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, KLHDC4, HYDIN, DEF8, DUS2, CHTF8, LPCAT2, TXNL4B, BANP, HEATR3, PDPR, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, ZDHHC7, VAC14, DOK4, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, COQ9, CIAPIN1, THAP11, JPH3, PDP2, ZNF319, RANBP10, VAT1L, TLDC1, WFDC1, NOD2, PDF, DPEP2, DPEP3, PAPD5, AKTIP, MTHFSD, GINS3, NDRG4, ACD, DBNDD1, FTO, FA2H, IRX6, IRX3, RIPOR1, TMEM231, TANGO6, USB1, WDR59, ELMO3, KLHL36, FBXO31, SHCBP1, SETD6, ESRP2, FAM192A, CENPT, CHD9, C16orf70, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, LONP2, ENKD1, SLC7A6OS, NLRC5, DRC7, CAPNS2, COG8, SPIRE2, MT4, ZNF469, GPT2, B3GNT9, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, RSPRY1, MYLK3, MARVELD3, MTSS1L, CENPBD1, ZNF276, CCDC102A, KCNG4, SDR42E1, ABCC12, CMTM1, PKD1L2, RNF166, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, ZC3H18, CDYL2, SNX20, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, SLC22A31, IL34, TMED6, ZFPM1, ADAD2, ZFP1, ADAMTS18, LDHD, FUK, MLKL, ZNF778, ACSF3, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, CNEP1R1, TERB1, CES4A, EXOC3L1, NUDT7, CLEC18C, SNAI3, FAM92B, ATXN1L, PKD1L3, CLEC18A, CTU2, TEPP, C16orf87, C16orf97, C16orf86, C16orf47, PABPN1L, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NPIPB15, CTRB2, MIR328, CLEC18B, MT1IP, KIAA0895L, LOC654780, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
3.
GRCh37:
Chr16:55359026-70884455
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
4.
GRCh37:
Chr16:56368689-90141355
AARS, AP1G1, AFG3L1P, AGRP, AMFR, APRT, ZFHX3, BBS2, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CETP, CNGB1, COX4I1, CSNK2A2, CTRB1, CTRL, CYBA, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, GLG1, GNAO1, GOT2, NR3C1P1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, MC1R, CHST6, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1JP, MT1M, MT1L, MT1X, MT2A, MT3, MVD, NFATC3, CHMP1A, PLCG2, POLR2C, PSKH1, PSMB10, PSMD7, RPL13, RRAD, CCL17, CCL22, CX3CL1, ST3GAL2, SLC9A5, SLC12A3, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, ADGRG1, BCAR1, VPS9D1, NUP93, HERPUD1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, KATNB1, EMC8, TUBB3, CFDP1, CTCF, NFAT5, NUDT21, WWP2, PRDM7, DDX19B, GABARAPL2, MON1B, TCF25, CNOT1, PHLPP2, ZCCHC14, GSE1, ATMIN, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, ARL2BP, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, CPNE7, VPS4A, IL17C, NOB1, CCDC113, TMEM208, CFAP20, FHOD1, ANKRD11, ZDHHC1, OSGIN1, PARD6A, PLLP, CKLF, NIP7, FAM96B, GINS2, TPPP3, TRAPPC2L, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, KLHDC4, HYDIN, DEF8, DUS2, CHTF8, TXNL4B, BANP, PDPR, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, ZDHHC7, VAC14, DOK4, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, COQ9, CIAPIN1, THAP11, JPH3, PDP2, ZNF319, RANBP10, VAT1L, TLDC1, WFDC1, PDF, DPEP2, DPEP3, MTHFSD, GINS3, NDRG4, ACD, DBNDD1, FA2H, RIPOR1, TMEM231, TANGO6, USB1, WDR59, ELMO3, KLHL36, FBXO31, SETD6, ESRP2, FAM192A, CENPT, C16orf70, CYB5B, CMIP, GFOD2, CDT1, MAP1LC3B, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, ENKD1, SLC7A6OS, NLRC5, DRC7, COG8, SPIRE2, MT4, ZNF469, B3GNT9, UTP4, ZNRF1, CNTNAP4, RSPRY1, MARVELD3, MTSS1L, CENPBD1, ZNF276, CCDC102A, KCNG4, SDR42E1, CMTM1, PKD1L2, RNF166, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, SPATA2L, SPATA33, ZC3H18, CDYL2, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, SLC22A31, IL34, TMED6, ZFPM1, ADAD2, ZFP1, ADAMTS18, LDHD, FUK, MLKL, ZNF778, ACSF3, CPNE2, ADGRG5, PRSS54, ADGRG3, TERB1, CES4A, EXOC3L1, NUDT7, CLEC18C, SNAI3, FAM92B, ATXN1L, PKD1L3, CLEC18A, CTU2, TEPP, C16orf86, C16orf47, PABPN1L, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NPIPB15, CTRB2, MIR328, CLEC18B, MT1IP, KIAA0895L, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
5.
GRCh37:
Chr16:67973795
GRCh38:
Chr16:67939892
LCATNorum diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr16:67973933
GRCh38:
Chr16:67940030
LCATNorum diseasePathogenic
(Feb 1, 1993)
no assertion criteria provided
7.
GRCh37:
Chr16:67973953
GRCh38:
Chr16:67940050
LCATNorum diseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr16:67974018
GRCh38:
Chr16:67940115
LCATFish-eye diseasePathogenic
(Feb 1, 1992)
no assertion criteria provided
9.
GRCh37:
Chr16:67974091
GRCh38:
Chr16:67940188
LCATNorum diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr16:67974096
GRCh38:
Chr16:67940193
LCATNorum diseasePathogenic
(Feb 1, 1993)
no assertion criteria provided
11.
GRCh37:
Chr16:67974149
GRCh38:
Chr16:67940246
LCATNorum diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr16:67974158-67974160
GRCh38:
Chr16:67940255-67940257
LCATFish-eye diseasePathogenic
(Jul 1, 1993)
no assertion criteria provided
13.
GRCh37:
Chr16:67974179
GRCh38:
Chr16:67940276
LCATNorum diseasePathogenic
(Jul 31, 1991)
no assertion criteria provided
14.
GRCh37:
Chr16:67974303
GRCh38:
Chr16:67940400
LCATNorum diseasePathogenic
(Sep 14, 1992)
no assertion criteria provided
15.
GRCh37:
Chr16:67974374
GRCh38:
Chr16:67940471
LCATNorum diseasePathogenic
(Sep 28, 1991)
no assertion criteria provided
16.
GRCh37:
Chr16:67976253
GRCh38:
Chr16:67942350
LCATNorum diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr16:67976316
GRCh38:
Chr16:67942413
LCATNorum diseasePathogenic
(Feb 1, 1993)
no assertion criteria provided
18.
GRCh37:
Chr16:67976480
GRCh38:
Chr16:67942577
LCATNorum diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr16:67976512
GRCh38:
Chr16:67942609
LCATFish-eye diseasePathogenic
(Jul 15, 1996)
no assertion criteria provided
20.
GRCh37:
Chr16:67976589
GRCh38:
Chr16:67942686
LCATNorum diseasePathogenic
(Jul 1, 1990)
no assertion criteria provided
21.
GRCh37:
Chr16:67976604-67976605
GRCh38:
Chr16:67942701-67942702
LCATNorum diseasePathogenic
(Sep 28, 1991)
no assertion criteria provided
22.
GRCh37:
Chr16:67976622
GRCh38:
Chr16:67942719
LCATNorum diseasePathogenic
(Feb 1, 1993)
no assertion criteria provided
23.
GRCh37:
Chr16:67976634
GRCh38:
Chr16:67942731
LCATFish-eye diseasePathogenic
(Dec 1, 1995)
no assertion criteria provided
24.
GRCh37:
Chr16:67976657
GRCh38:
Chr16:67942754
LCATFish-eye diseasePathogenic
(Jun 1, 1991)
no assertion criteria provided
25.
GRCh37:
Chr16:67976842
Chr16:67976470
GRCh38:
Chr16:67942939
Chr16:67942567
LCATNorum diseasePathogenic
(Feb 1, 1993)
no assertion criteria provided
26.
GRCh37:
Chr16:67976870
GRCh38:
Chr16:67942967
LCATNorum diseasePathogenic
(Feb 1, 1993)
no assertion criteria provided
27.
GRCh37:
Chr16:67977111
GRCh38:
Chr16:67943208
LCATNorum diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr16:67977904
GRCh38:
Chr16:67944001
LCAT, SLC12A4Fish-eye diseasePathogenic
(Jan 31, 1992)
no assertion criteria provided
29.
GRCh37:
Chr16:46464488-90155062
AARS, ADCY7, AP1G1, AFG3L1P, AGRP, AMFR, APRT, ZFHX3, BBS2, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CES1, CETP, CNGB1, COX4I1, CSNK2A2, CTRB1, CTRL, CYBA, CYLD, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, GLG1, GNAO1, GOT2, NR3C1P1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, MC1R, CHST6, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1JP, MT1M, MT1L, MT1X, MT2A, MT3, MVD, NFATC3, CHMP1A, PHKB, PLCG2, POLR2C, PSKH1, PSMB10, PSMD7, RBL2, RPL13, RRAD, SALL1, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, ADGRG1, BCAR1, VPS9D1, N4BP1, NUP93, HERPUD1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, IRX5, DNAJA2, KATNB1, EMC8, TUBB3, CFDP1, CTCF, NFAT5, NUDT21, WWP2, PRDM7, DDX19B, GABARAPL2, MON1B, TCF25, CNOT1, PHLPP2, ZNF423, ZCCHC14, GSE1, ATMIN, RPGRIP1L, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, ARL2BP, ORC6, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, CPNE7, VPS4A, IL17C, TOX3, NOB1, CCDC113, TMEM208, CFAP20, FHOD1, BRD7, ANKRD11, ZDHHC1, OSGIN1, PARD6A, PLLP, CKLF, NIP7, FAM96B, GINS2, TPPP3, TRAPPC2L, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, KLHDC4, HYDIN, DEF8, DUS2, CHTF8, LPCAT2, TXNL4B, BANP, HEATR3, PDPR, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, ZDHHC7, VAC14, DOK4, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, COQ9, CIAPIN1, THAP11, JPH3, PDP2, ZNF319, RANBP10, VAT1L, TLDC1, WFDC1, NOD2, PDF, DPEP2, DPEP3, PAPD5, AKTIP, MTHFSD, GINS3, NDRG4, ACD, DBNDD1, FTO, FA2H, IRX6, IRX3, RIPOR1, TMEM231, TANGO6, USB1, WDR59, ELMO3, KLHL36, FBXO31, SHCBP1, SETD6, ESRP2, FAM192A, CENPT, CHD9, C16orf70, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, LONP2, ENKD1, SLC7A6OS, NLRC5, DRC7, CAPNS2, COG8, SPIRE2, MT4, ZNF469, GPT2, B3GNT9, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, RSPRY1, MYLK3, MARVELD3, MTSS1L, CENPBD1, ZNF276, CCDC102A, KCNG4, SDR42E1, ABCC12, CMTM1, PKD1L2, RNF166, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, ZC3H18, CDYL2, SNX20, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, SLC22A31, IL34, TMED6, ZFPM1, ADAD2, ZFP1, ADAMTS18, LDHD, FUK, MLKL, ZNF778, ACSF3, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, CNEP1R1, TERB1, CES4A, EXOC3L1, NUDT7, CLEC18C, SNAI3, FAM92B, ATXN1L, PKD1L3, CLEC18A, CTU2, TEPP, C16orf87, C16orf97, C16orf86, C16orf47, PABPN1L, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NPIPB15, CTRB2, MIR328, CLEC18B, MT1IP, KIAA0895L, LOC654780, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
See casesPathogenicno assertion criteria provided
30.
GRCh37:
Chr16:69193-90274381
AARS, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AFG3L1P, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1, ATP6V0C, BBS2, TNFRSF17, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CCNF, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLCN7, CLN3, CNGB1, COX4I1, COX6A2, CREBBP, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, ECI1, DHODH, NQO1, SEPT1, DNASE1, DNASE1L2, DYNC1LI2, DPEP1, E2F4, E4F1, EMP2, ERCC4, FANCA, FOXF1, FOXL1, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLG1, GNAO1, GOT2, GP2, GRIN2A, NR3C1P1, GSPT1, GTF3C1, HAGH, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS, KIFC3, KIF22, LCAT, MAF, MAZ, MC1R, CHST6, MEFV, CIITA, MMP2, MMP15, MPG, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1JP, MT1M, MT1L, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NDUFB10, NFATC3, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, CHMP1A, PDPK1, PHKB, PHKG2, PKD1, PLCG2, PLK1, PMM2, POLR2C, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPL3L, RPL13, RPS2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, SRL, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, CAPN15, SPG7, SPN, SSTR5, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, ELOB, TERF2, TFAP4, TGFB1I1, TK2, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF19, ZNF23, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, GAN, SLC7A5, SNN, AXIN1, PLA2G10, DOC2A, HIRIP3, CDK10, SOCS1, EIF3C, TRADD, MBTPS1, RGS11, CES2, NAE1, CACNA1H, BAIAP3, NOL3, TAF1C, RHBDL1, SLC7A6, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, USP10, ATP6V0D1, SYNGR3, IL32, BCL7C, NPIPA1, ADGRG1, TAOK2, SLC9A3R2, LITAF, BCAR1, VPS9D1, MARF1, N4BP1, NUP93, HERPUD1, SEC14L5, ZNF646, RAB11FIP3, CCP110, SETD1A, IFT140, KIAA0513, PIEZO1, DHX38, IST1, RNF40, TELO2, ATP2C2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, MSLN, IGSF6, IRX5, STUB1, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, TUBB3, CD2BP2, CDIPT, CFDP1, MRPL28, ERN2, TBL3, CTCF, NFAT5, SRCAP, RNPS1, PRSS21, NUDT21, WWP2, PRDM7, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, TCF25, CNOT1, PHLPP2, PDXDC1, SMG1, CLUAP1, GGA2, ZNF423, NPIPB3, MAPK8IP3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, TPSD1, SF3B3, QPRT, CES3, SRRM2, ADAT1, CHST5, ARL2BP, CARHSP1, ORC6, EDC4, PLA2G15, TP53TG3, TPSG1, RAB26, COG4, TMEM186, PLEKHG4, SH2B1, TBC1D10B, ZNF500, DECR2, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, CPNE7, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, C16orf72, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, UBN1, MYLPF, EEF2K, OSGIN1, CDIP1, SOX8, IL21R, PARD6A, AMDHD2, PAM16, TXNDC11, PLLP, METTL9, NAGPA, CKLF, BFAR, AHSP, TNFRSF12A, ZNF771, NIP7, LCMT1, GDE1, FAM96B, GINS2, TPPP3, TRAPPC2L, GPRC5B, POLR3K, MSRB1, WWOX, SYT17, GNG13, BCO1, TERF2IP, KCTD5, PRMT7, NECAB2, FBXL19, RRN3, RBFOX1, KLHDC4, HYDIN, NDE1, DEF8, DUS2, CHTF8, ZSCAN32, LPCAT2, TXNL4B, BANP, HCFC1R1, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, LUC7L, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, ALG1, UBFD1, CMC2, COQ9, CIAPIN1, C16orf62, TMEM159, LYRM1, THAP11, JPH3, NMRAL1, TBC1D24, USP31, MKL2, CASKIN1, PDP2, ZNF319, CRAMP1, RANBP10, VAT1L, TLDC1, RAB40C, WFDC1, PRM3, TMEM8A, CHTF18, CHP2, PRSS22, NOD2, XYLT1, PDF, DPEP2, DPEP3, MLST8, PAPD5, RHBDF1, FBRS, MMP25, AKTIP, NARFL, TPSB2, HS3ST6, PDIA2, UNKL, C16orf58, MTHFSD, GINS3, LMF1, NDRG4, ACD, ZNF747, FAM173A, MRPS34, PRR14, VKORC1, METRN, DBNDD1, SLX1B, FTO, DCTPP1, METTL22, FA2H, GDPD3, IRX6, IRX3, THOC6, KREMEN2, PAGR1, RIPOR1, TMEM231, CORO7, TANGO6, SNRNP25, ROGDI, USB1, TMEM204, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, NAA60, TMC7, SETD6, ESRP2, FAM192A, ATF7IP2, CENPT, C16orf59, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, FAHD1, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, FAM57B, LONP2, PRSS27, SPNS1, FAM234A, ENKD1, SLC7A6OS, KAT8, NLRC5, WDR24, DRC7, TRAF7, FLYWCH1, HAGHL, CAPNS2, NUDT16L1, METTL26, MCRIP2, COG8, SLX4, SPIRE2, DCTN5, MT4, GNPTG, ZNF469, GLYR1, GLIS2, GPT2, B3GNT9, ZSCAN10, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, C16orf45, RHOT2, RSPRY1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, MYLK3, MARVELD3, COG7, SNX29, MTSS1L, ZNF764, CENPBD1, ZNF276, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, RPUSD1, CMTM1, PKD1L2, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RNF166, RMI2, ACSM1, WFIKKN1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, ZC3H18, GPR139, CDYL2, ANKS3, UBALD1, SEPT12, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, RNF151, PRR35, FBXL16, C16orf92, GSG1L, SLC22A31, IL34, ZNF597, BICDL2, TMED6, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, EEF2KMT, LDHD, FUK, MLKL, ZNF778, ACSF3, WDR90, EME2, , NLRC3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, CNEP1R1, ANKS4B, PRSS33, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, NPW, BRICD5, PGP, C16orf54, INO80E, NUDT7, ZNF843, NHLRC4, C16orf91, TMEM114, CLEC18C, SNAI3, PRSS53, JMJD8, FAM92B, C16orf96, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, PRSS41, TEPP, PRR25, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, C1QTNF8, PTX4, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, SMIM22, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, MT1IP, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, C16orf52, SNHG9, CEMP1, TVP23A, MIR365A, SYCE1L, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, LINC01082, C16orf95, CORO7-PAM16, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
See casesPathogenicno assertion criteria provided
31.
GRCh37:
Chr16:67654566-68404073
See casesLikely pathogenicno assertion criteria provided
32.
GRCh37:
Chr16:49719432-68435615
GRCh38:
Chr16:49685521-68401712
ADCY7, AGRP, AMFR, BBS2, CA7, CBFB, CDH5, CDH8, CDH11, CDH16, CES1, CETP, CNGB1, CSNK2A2, CTRL, CYLD, DYNC1LI2, E2F4, GNAO1, GOT2, HSD11B2, HSF4, KIFC3, LCAT, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1JP, MT1M, MT1L, MT1X, MT2A, MT3, NFATC3, POLR2C, PSKH1, PSMB10, RBL2, RRAD, SALL1, CCL17, CCL22, CX3CL1, SLC6A2, SLC9A5, SLC12A3, SLC12A4, TK2, TRADD, CES2, NAE1, NOL3, SLC7A6, ATP6V0D1, ADGRG1, NUP93, HERPUD1, NUTF2, IRX5, KATNB1, CTCF, NUDT21, CNOT1, ZNF423, RPGRIP1L, CES3, ARL2BP, EDC4, PLA2G15, PLEKHG4, DKFZP434H168, LRRC29, TOX3, CCDC113, TMEM208, CFAP20, FHOD1, BRD7, ZDHHC1, PARD6A, PLLP, CKLF, FAM96B, TPPP3, PRMT7, DUS2, LPCAT2, HEATR3, SLC38A7, OGFOD1, LRRC36, FBXL8, SMPD3, DOK4, DDX28, TSNAXIP1, COQ9, CIAPIN1, THAP11, PDP2, ZNF319, RANBP10, NOD2, DPEP2, DPEP3, PAPD5, AKTIP, GINS3, NDRG4, ACD, FTO, IRX6, IRX3, RIPOR1, USB1, ELMO3, SETD6, ESRP2, FAM192A, CENPT, CHD9, C16orf70, GFOD2, ENKD1, SLC7A6OS, NLRC5, DRC7, CAPNS2, MT4, B3GNT9, NKD1, RSPRY1, CCDC102A, CMTM1, NRN1L, CMTM3, SNX20, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, CNEP1R1, TERB1, CES4A, EXOC3L1, CASC22, LOC283856, LINC00922, TEPP, C16orf97, LOC388282, C16orf86, MIR138-2, MIR328, CASC16, LOC643802, CRNDE, MT1IP, KIAA0895L, SNORA46, SNORA50A, LOC729159, LOC100131303, TRL-CAG2-2, TRL-CAG2-1, RNU6-21P, MIR3181, MIR3935, LINC00919, FTO-IT1, LINC00920, LOC100505942, CKLF-CMTM1, LINC02169, LINC02140, LOC101927272, LINC02127, LINC01571, LOC101927480, LINC02141, LINC02126, BEAN1-AS1, MIR6771, MIR6772, MIR6773, MIR6863, LINC02180, LOC102723373, LINC02187, LINC02178, LINC02168, LOC105371267, LINC02137, LOC106699570, LOC107984813
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
33.
GRCh37:
Chr16:65991732-83645048
GRCh38:
Chr16:65957829-83611443
AARS, AP1G1, AGRP, ZFHX3, CA7, CALB2, CBFB, CDH1, CDH3, CDH5, CDH13, CDH16, CTRB1, CTRL, DHODH, NQO1, DYNC1LI2, E2F4, GCSH, GLG1, HAS3, HP, HPR, HSD11B2, HSD17B2, HSF4, KARS, LCAT, MAF, CHST6, NFATC3, PLCG2, PSKH1, PSMB10, PSMD7, RRAD, ST3GAL2, SLC9A5, SLC12A4, SNTB2, TAT, TERF2, TK2, TRG-GCC3-1, ZNF19, ZNF23, GAN, TRADD, CES2, NAE1, NOL3, SLC7A6, ATP6V0D1, BCAR1, DHX38, IST1, CLEC3A, CHST4, MPHOSPH6, NUTF2, CFDP1, CTCF, NFAT5, WWP2, DDX19B, GABARAPL2, MON1B, PHLPP2, ATMIN, SF3B3, CES3, ADAT1, CHST5, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, VPS4A, NOB1, TMEM208, FHOD1, ZDHHC1, PARD6A, CKLF, NIP7, FAM96B, TPPP3, WWOX, BCO1, TERF2IP, PRMT7, HYDIN, DUS2, CHTF8, TXNL4B, PDPR, RFWD3, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, VAC14, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, THAP11, PDP2, RANBP10, VAT1L, PDF, DPEP2, DPEP3, ACD, FA2H, RIPOR1, TMEM231, TANGO6, WDR59, ELMO3, ESRP2, CENPT, C16orf70, CYB5B, CMIP, GFOD2, PMFBP1, DYNLRB2, ENKD1, SLC7A6OS, COG8, B3GNT9, UTP4, ZNRF1, CNTNAP4, MARVELD3, MTSS1L, SDR42E1, CMTM1, PKD1L2, EXOSC6, C16orf46, NRN1L, CMTM3, CDYL2, TMEM170A, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, IL34, TMED6, ZFP1, ADAMTS18, LDHD, FUK, MLKL, TERB1, CES4A, EXOC3L1, HCCAT5, NUDT7, CLEC18C, ATXN1L, PKD1L3, CLEC18A, C16orf86, C16orf47, LOC400541, MIR140, NPIPB15, CTRB2, MIR328, CLEC18B, KIAA0895L, SNORD71, SNORD111, DUXB, SNORD111B, LOC100129617, VAC14-AS1, SYCE1L, LOC100131303, TAT-AS1, TRG-GCC2-4, TRK-TTT1-1, TRM-CAT2-1, TRG-GCC2-5, TRG-GCC5-1, MIR1538, SNORA70D, MIR3182, MIR1972-2, LINC00920, LOC100505942, LOC100506083, LINC01568, LOC100506281, CKLF-CMTM1, MIR4720, MIR4719, RNU6-23P, LINC02170, BEAN1-AS1, LINC01572, LOC101928035, LINC02125, LINC01229, LINC01227, LOC101928417, LOC101928446, MIR6504, MIR7854, MIR8058, MIR6773, MAFTRR, WWOX-AS1, LOC102724084, LOC105371328, LINC02136, LOC105371335, LINC02131, LOC105376772, LOC106699570, LOC107984813
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
34.
GRCh37:
Chr16:52933095-90155062
GRCh38:
Chr16:52899183-90088654
AARS, AP1G1, AFG3L1P, AGRP, AMFR, APRT, ZFHX3, BBS2, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CES1, CETP, CNGB1, COX4I1, CSNK2A2, CTRB1, CTRL, CYBA, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, GLG1, GNAO1, GOT2, NR3C1P1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, MC1R, CHST6, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1JP, MT1M, MT1L, MT1X, MT2A, MT3, MVD, NFATC3, CHMP1A, PLCG2, POLR2C, PSKH1, PSMB10, PSMD7, RBL2, RPL13, RRAD, CCL17, CCL22, CX3CL1, ST3GAL2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, TRG-GCC3-1, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, ADGRG1, BCAR1, VPS9D1, NUP93, HERPUD1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, IRX5, KATNB1, EMC8, TUBB3, CFDP1, CTCF, NFAT5, NUDT21, WWP2, PRDM7, DDX19B, GABARAPL2, MON1B, TCF25, CNOT1, PHLPP2, ZCCHC14, GSE1, ATMIN, RPGRIP1L, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, ARL2BP, EDC4, PLA2G15, COG4, PLEKHG4, DKFZP434H168, LRRC29, CPNE7, VPS4A, IL17C, NOB1, CCDC113, TMEM208, CFAP20, FHOD1, ANKRD11, ZDHHC1, OSGIN1, PARD6A, PLLP, CKLF, NIP7, FAM96B, GINS2, TPPP3, TRAPPC2L, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, KLHDC4, HYDIN, DEF8, DUS2, CHTF8, LPCAT2, TXNL4B, BANP, PDPR, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, ZDHHC7, VAC14, DOK4, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, COQ9, CIAPIN1, THAP11, JPH3, PDP2, ZNF319, RANBP10, VAT1L, TLDC1, WFDC1, PDF, DPEP2, DPEP3, AKTIP, MTHFSD, GINS3, NDRG4, ACD, DBNDD1, FTO, FA2H, IRX6, IRX3, RIPOR1, TMEM231, TANGO6, USB1, WDR59, ELMO3, KLHL36, FBXO31, SETD6, ESRP2, FAM192A, CENPT, CHD9, C16orf70, CYB5B, CMIP, GFOD2, CDT1, MAP1LC3B, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, ENKD1, SLC7A6OS, NLRC5, DRC7, CAPNS2, COG8, SPIRE2, MT4, ZNF469, B3GNT9, UTP4, ZNRF1, CNTNAP4, RSPRY1, MARVELD3, MTSS1L, CENPBD1, ZNF276, CCDC102A, KCNG4, SDR42E1, CMTM1, PKD1L2, RNF166, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, SPATA2L, SPATA33, ZC3H18, CDYL2, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, SLC22A31, IL34, TMED6, FLJ30679, LINC02135, ZFPM1, ADAD2, ZFP1, ADAMTS18, SNAI3-AS1, LINC00311, LDHD, FUK, MLKL, ZNF778, ACSF3, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, TERB1, CES4A, EXOC3L1, LOC283856, LINC00304, LINC00922, HCCAT5, NUDT7, CLEC18C, SNAI3, LOC339059, FAM92B, ATXN1L, PKD1L3, CLEC18A, CTU2, TEPP, LOC388282, C16orf86, C16orf47, PABPN1L, LOC400541, LINC02139, FENDRR, LOC400553, ZC3H18-AS1, LINC02138, C16orf74, MIR138-2, MIR140, NPIPB15, CTRB2, LINC02181, MIR328, CLEC18B, SNORD68, LOC643802, CRNDE, MT1IP, KIAA0895L, SNORA46, SNORA50A, SNORD71, SNORD111, LOC729159, LINC00917, DUXB, SNORD111B, VPS9D1-AS1, LOC100129215, LOC100129617, LOC100129697, URAHP, VAC14-AS1, SYCE1L, LOC100131303, TAT-AS1, TRG-GCC2-4, TRL-CAG2-2, TRK-TTT1-1, TRL-CAG2-1, TRM-CAT2-1, TRG-GCC2-5, TRG-GCC5-1, TRM-CAT6-1, LOC100287036, LOC100289580, MIR1538, MIR1910, RNU6-21P, SNORA70D, MIR3182, MIR1972-2, MIR3935, FTO-IT1, LINC00920, LOC100505942, LOC100506083, LINC01568, LOC100506281, LINC01082, C16orf95, CKLF-CMTM1, MIR4720, MIR4722, MIR4719, MIR5093, MIR5189, RNU6-23P, LINC02169, LINC02140, LINC02170, LINC01081, LOC101927480, LINC02141, LINC02126, BEAN1-AS1, LOC101927793, LOC101927817, LINC01572, LOC101928035, LINC02125, LINC01229, LINC01227, LOC101928417, LOC101928446, LOC101928557, LINC02189, LOC101928659, LOC101928682, LOC101928708, LOC101928737, LINC02182, MIR6504, MIR6772, MIR6775, MIR7854, MIR8058, MIR6773, MIR6774, MIR6863, MAFTRR, LOC102723373, WWOX-AS1, LOC102724084, LOC102724163, LINC02188, LOC102724467, FOXC2-AS1, LOC105371267, LINC02137, LOC105371328, LINC02136, LOC105371335, LINC02131, ATP2C2-AS1, LINC02176, LOC105371414, LOC105376772, LOC106699570, LOC107984813
See casesPathogenic
(May 7, 2013)
no assertion criteria provided
35.
GRCh37:
Chr16:65545386-90163403
GRCh38:
Chr16:65511483-90096995
AARS, AP1G1, AFG3L1P, AGRP, APRT, ZFHX3, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CDH1, CDH3, CDH5, CDH13, CDH15, CDH16, COX4I1, CTRB1, CTRL, CYBA, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, GLG1, NR3C1P1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, LCAT, MAF, MC1R, CHST6, MVD, NFATC3, CHMP1A, PLCG2, PSKH1, PSMB10, PSMD7, RPL13, RRAD, ST3GAL2, SLC9A5, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, TRG-GCC3-1, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, BCAR1, VPS9D1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, EMC8, TUBB3, CFDP1, CTCF, NFAT5, WWP2, PRDM7, DDX19B, GABARAPL2, MON1B, TCF25, PHLPP2, ZCCHC14, GSE1, ATMIN, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, CPNE7, VPS4A, IL17C, NOB1, TMEM208, FHOD1, ANKRD11, ZDHHC1, OSGIN1, PARD6A, CKLF, NIP7, FAM96B, GINS2, TPPP3, TRAPPC2L, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, KLHDC4, HYDIN, DEF8, DUS2, CHTF8, TXNL4B, BANP, PDPR, RFWD3, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, ZDHHC7, VAC14, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, THAP11, JPH3, PDP2, RANBP10, VAT1L, TLDC1, WFDC1, PDF, DPEP2, DPEP3, MTHFSD, ACD, DBNDD1, FA2H, RIPOR1, TMEM231, TANGO6, WDR59, ELMO3, KLHL36, FBXO31, ESRP2, CENPT, C16orf70, CYB5B, CMIP, GFOD2, CDT1, MAP1LC3B, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, ENKD1, SLC7A6OS, COG8, SPIRE2, ZNF469, B3GNT9, UTP4, ZNRF1, CNTNAP4, MARVELD3, MTSS1L, CENPBD1, ZNF276, KCNG4, SDR42E1, CMTM1, PKD1L2, RNF166, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, SPATA2L, SPATA33, ZC3H18, CDYL2, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, SLC22A31, IL34, TMED6, FLJ30679, LINC02135, ZFPM1, ADAD2, ZFP1, ADAMTS18, SNAI3-AS1, LINC00311, LDHD, FUK, MLKL, ZNF778, ACSF3, TERB1, CES4A, EXOC3L1, LINC00304, LINC00922, HCCAT5, NUDT7, CLEC18C, SNAI3, LOC339059, FAM92B, ATXN1L, PKD1L3, CLEC18A, CTU2, C16orf86, C16orf47, PABPN1L, LOC400541, LINC02139, FENDRR, LOC400553, ZC3H18-AS1, LINC02138, C16orf74, MIR140, NPIPB15, CTRB2, LINC02181, MIR328, CLEC18B, SNORD68, KIAA0895L, SNORD71, SNORD111, LINC00917, DUXB, SNORD111B, VPS9D1-AS1, LOC100129215, LOC100129617, LOC100129697, URAHP, VAC14-AS1, SYCE1L, LOC100131303, TAT-AS1, TRG-GCC2-4, TRK-TTT1-1, TRM-CAT2-1, TRG-GCC2-5, TRG-GCC5-1, TRM-CAT6-1, LOC100287036, LOC100289580, MIR1538, MIR1910, SNORA70D, MIR3182, MIR1972-2, LINC00920, LOC100505942, LOC100506083, LINC01568, LOC100506281, LINC01082, C16orf95, CKLF-CMTM1, MIR4720, MIR4722, MIR4719, MIR5093, MIR5189, RNU6-23P, LINC02170, LINC01081, BEAN1-AS1, LOC101927793, LOC101927817, LINC01572, LOC101928035, LINC02125, LINC01229, LINC01227, LOC101928417, LOC101928446, LOC101928557, LINC02189, LOC101928659, LOC101928682, LOC101928708, LOC101928737, LINC02182, MIR6504, MIR6775, MIR7854, MIR8058, MIR6773, MIR6774, MAFTRR, WWOX-AS1, LOC102724084, LOC102724163, LINC02188, LOC102724467, FOXC2-AS1, LOC105371328, LINC02136, LOC105371335, LINC02131, ATP2C2-AS1, LINC02176, LOC105371414, LOC105376772, LOC106699570, LOC107984813
See casesPathogenic
(Jul 2, 2012)
no assertion criteria provided
36.
GRCh37:
Chr16:62959833-84619401
GRCh38:
Chr16:62925929-84585795
AARS, AP1G1, AGRP, ZFHX3, CA7, CALB2, CBFB, CDH1, CDH3, CDH5, CDH11, CDH13, CDH16, CTRB1, CTRL, DHODH, NQO1, DYNC1LI2, E2F4, GCSH, GLG1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, KARS, LCAT, MAF, CHST6, NFATC3, PLCG2, PSKH1, PSMB10, PSMD7, RRAD, ST3GAL2, SLC9A5, SLC12A4, SNTB2, TAT, TERF2, TK2, TRG-GCC3-1, ZNF19, ZNF23, GAN, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, ATP6V0D1, BCAR1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, CFDP1, CTCF, NFAT5, WWP2, DDX19B, GABARAPL2, MON1B, PHLPP2, ATMIN, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, VPS4A, NOB1, TMEM208, FHOD1, ZDHHC1, OSGIN1, PARD6A, CKLF, NIP7, FAM96B, TPPP3, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, HYDIN, DUS2, CHTF8, TXNL4B, PDPR, RFWD3, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, VAC14, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, THAP11, PDP2, RANBP10, VAT1L, TLDC1, WFDC1, PDF, DPEP2, DPEP3, ACD, FA2H, RIPOR1, TMEM231, TANGO6, WDR59, ELMO3, ESRP2, CENPT, C16orf70, CYB5B, CMIP, GFOD2, PMFBP1, DYNLRB2, HSDL1, ENKD1, SLC7A6OS, COG8, B3GNT9, UTP4, ZNRF1, CNTNAP4, MARVELD3, MTSS1L, KCNG4, SDR42E1, CMTM1, PKD1L2, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, CDYL2, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, IL34, TMED6, ADAD2, ZFP1, ADAMTS18, LDHD, FUK, MLKL, TERB1, CES4A, EXOC3L1, LINC00922, HCCAT5, NUDT7, CLEC18C, ATXN1L, PKD1L3, CLEC18A, C16orf86, C16orf47, LOC400541, MIR140, NPIPB15, CTRB2, MIR328, CLEC18B, KIAA0895L, SNORD71, SNORD111, DUXB, SNORD111B, LOC100129617, VAC14-AS1, SYCE1L, LOC100131303, TAT-AS1, TRG-GCC2-4, TRK-TTT1-1, TRM-CAT2-1, TRG-GCC2-5, TRG-GCC5-1, MIR1538, SNORA70D, MIR3182, MIR1972-2, LINC00920, LOC100505942, LOC100506083, LINC01568, LOC100506281, CKLF-CMTM1, MIR4720, MIR4719, RNU6-23P, LINC02170, LINC02126, BEAN1-AS1, LINC01572, LOC101928035, LINC02125, LINC01229, LINC01227, LOC101928417, LOC101928446, MIR6504, MIR7854, MIR8058, MIR6773, MAFTRR, WWOX-AS1, LOC102724084, LOC102724163, LOC105371328, LINC02136, LOC105371335, LINC02131, ATP2C2-AS1, LOC105376772, LOC106699570, LOC107984813
See casesPathogenic
(Oct 20, 2010)
no assertion criteria provided
37.
GRCh37:
Chr16:64345179-68095914
GRCh38:
Chr16:64311275-68062011
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
38.
GRCh37:
Chr16:63352901-70589152
GRCh38:
Chr16:63318997-70555249
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
39.
GRCh37:
Chr16:65347298-90148393
GRCh38:
Chr16:65313395-90081985
AARS, AP1G1, AFG3L1P, AGRP, APRT, ZFHX3, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CDH1, CDH3, CDH5, CDH13, CDH15, CDH16, COX4I1, CTRB1, CTRL, CYBA, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, GLG1, NR3C1P1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, LCAT, MAF, MC1R, CHST6, MVD, NFATC3, CHMP1A, PLCG2, PSKH1, PSMB10, PSMD7, RPL13, RRAD, ST3GAL2, SLC9A5, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, TRG-GCC3-1, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, BCAR1, VPS9D1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, EMC8, TUBB3, CFDP1, CTCF, NFAT5, WWP2, PRDM7, DDX19B, GABARAPL2, MON1B, TCF25, PHLPP2, ZCCHC14, GSE1, ATMIN, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, CPNE7, VPS4A, IL17C, NOB1, TMEM208, FHOD1, ANKRD11, ZDHHC1, OSGIN1, PARD6A, CKLF, NIP7, FAM96B, GINS2, TPPP3, TRAPPC2L, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, KLHDC4, HYDIN, DEF8, DUS2, CHTF8, TXNL4B, BANP, PDPR, RFWD3, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, ZDHHC7, VAC14, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, THAP11, JPH3, PDP2, RANBP10, VAT1L, TLDC1, WFDC1, PDF, DPEP2, DPEP3, MTHFSD, ACD, DBNDD1, FA2H, RIPOR1, TMEM231, TANGO6, WDR59, ELMO3, KLHL36, FBXO31, ESRP2, CENPT, C16orf70, CYB5B, CMIP, GFOD2, CDT1, MAP1LC3B, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, ENKD1, SLC7A6OS, COG8, SPIRE2, ZNF469, B3GNT9, UTP4, ZNRF1, CNTNAP4, MARVELD3, MTSS1L, CENPBD1, ZNF276, KCNG4, SDR42E1, CMTM1, PKD1L2, RNF166, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, SPATA2L, SPATA33, ZC3H18, CDYL2, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, SLC22A31, IL34, TMED6, FLJ30679, LINC02135, ZFPM1, ADAD2, ZFP1, ADAMTS18, SNAI3-AS1, LINC00311, LDHD, FUK, MLKL, ZNF778, ACSF3, TERB1, CES4A, EXOC3L1, LINC00304, LINC00922, HCCAT5, NUDT7, CLEC18C, SNAI3, LOC339059, FAM92B, ATXN1L, PKD1L3, CLEC18A, CTU2, C16orf86, C16orf47, PABPN1L, LOC400541, LINC02139, FENDRR, LOC400553, ZC3H18-AS1, LINC02138, C16orf74, MIR140, NPIPB15, CTRB2, LINC02181, MIR328, CLEC18B, SNORD68, KIAA0895L, SNORD71, SNORD111, LINC00917, DUXB, SNORD111B, VPS9D1-AS1, LOC100129215, LOC100129617, LOC100129697, URAHP, VAC14-AS1, SYCE1L, LOC100131303, TAT-AS1, TRG-GCC2-4, TRK-TTT1-1, TRM-CAT2-1, TRG-GCC2-5, TRG-GCC5-1, TRM-CAT6-1, LOC100287036, LOC100289580, MIR1538, MIR1910, SNORA70D, MIR3182, MIR1972-2, LINC00920, LOC100505942, LOC100506083, LINC01568, LOC100506281, LINC01082, C16orf95, CKLF-CMTM1, MIR4720, MIR4722, MIR4719, MIR5093, MIR5189, RNU6-23P, LINC02170, LINC01081, BEAN1-AS1, LOC101927793, LOC101927817, LINC01572, LOC101928035, LINC02125, LINC01229, LINC01227, LOC101928417, LOC101928446, LOC101928557, LINC02189, LOC101928659, LOC101928682, LOC101928708, LOC101928737, LINC02182, MIR6504, MIR6775, MIR7854, MIR8058, MIR6773, MIR6774, MAFTRR, WWOX-AS1, LOC102724084, LOC102724163, LINC02188, LOC102724467, FOXC2-AS1, LOC105371328, LINC02136, LOC105371335, LINC02131, ATP2C2-AS1, LINC02176, LOC105371414, LOC105376772, LOC106699570, LOC107984813
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
40.
GRCh37:
Chr16:58490026-74742621
GRCh38:
Chr16:58456122-74708723
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
41.
GRCh37:
Chr16:56917504-71313878
GRCh38:
Chr16:56883592-71279975
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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