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Items: 1 to 100 of 115

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
ACSF3Combined malonic and methylmalonic aciduriaPathogenic
(Aug 14, 2011)
no assertion criteria provided
2.
GRCh37:
Chr5:1-8180513
Chr16:76935310-90354753
not providedLikely pathogenic
(Nov 24, 2015)
no assertion criteria provided
3.
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
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:
Chr16:72107834-90142285
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
6.
GRCh37:
Chr16:89160424
GRCh38:
Chr16:89094016
ACSF3not specifiedLikely benign
(Oct 13, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr16:89164985
GRCh38:
Chr16:89098577
ACSF3not specifiedBenign
(Jul 17, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr16:89164994
GRCh38:
Chr16:89098586
ACSF3not specifiedLikely benign
(Oct 11, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr16:89165005
GRCh38:
Chr16:89098597
ACSF3not specifiedLikely benign
(Jan 25, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr16:89165163
GRCh38:
Chr16:89098755
ACSF3not specifiedLikely benign
(Sep 20, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr16:89165169
GRCh38:
Chr16:89098761
ACSF3not specifiedUncertain significance
(Sep 1, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr16:89165170
GRCh38:
Chr16:89098762
ACSF3not specifiedLikely benign
(Feb 7, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr16:89167064
GRCh38:
Chr16:89100656
ACSF3not specifiedLikely benign
(Jun 28, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr16:89167075
GRCh38:
Chr16:89100667
ACSF3not specifiedLikely benign
(Jul 25, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr16:89167076-89167077
GRCh38:
Chr16:89100668-89100669
ACSF3not specifiedBenign
(Jan 29, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr16:89167090
GRCh38:
Chr16:89100682
ACSF3not providedPathogenic
(Feb 28, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr16:89167094
GRCh38:
Chr16:89100686
ACSF3not specifiedBenign
(May 29, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr16:89167117
GRCh38:
Chr16:89100709
ACSF3not providedLikely pathogenic
(Nov 10, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr16:89167120
GRCh38:
Chr16:89100712
ACSF3Global developmental delayUncertain significance
(Feb 21, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr16:89167138
GRCh38:
Chr16:89100730
ACSF3not specifiedBenign
(Aug 6, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr16:89167140
GRCh38:
Chr16:89100732
ACSF3not specifiedBenign
(May 29, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr16:89167386
GRCh38:
Chr16:89100978
ACSF3not specifiedBenign
(Dec 10, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr16:89167395
GRCh38:
Chr16:89100987
ACSF3not specifiedBenign
(May 29, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr16:89167404
GRCh38:
Chr16:89100996
ACSF3not specifiedBenign
(May 29, 2013)
criteria provided, single submitter
25.
GRCh37:
Chr16:89167431
GRCh38:
Chr16:89101023
ACSF3not specifiedBenign
(May 29, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr16:89167443
GRCh38:
Chr16:89101035
ACSF3not specifiedBenign
(May 29, 2013)
criteria provided, single submitter
27.
GRCh37:
Chr16:89167458
GRCh38:
Chr16:89101050
ACSF3not specifiedBenign
(May 29, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr16:89167500
GRCh38:
Chr16:89101092
ACSF3not specifiedLikely benign
(Apr 3, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr16:89167673
GRCh38:
Chr16:89101265
ACSF3not specifiedLikely benign
(Jun 6, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr16:89167678
GRCh38:
Chr16:89101270
ACSF3not providedPathogenic
(Feb 28, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr16:89167682
GRCh38:
Chr16:89101274
ACSF3Combined malonic and methylmalonic aciduriaPathogenic
(Aug 14, 2011)
no assertion criteria provided
32.
GRCh37:
Chr16:89167775
GRCh38:
Chr16:89101367
ACSF3not specifiedLikely benign
(Oct 3, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr16:89169000
GRCh38:
Chr16:89102592
ACSF3not specifiedBenign
(Aug 6, 2013)
criteria provided, single submitter
34.
GRCh37:
Chr16:89169018
GRCh38:
Chr16:89102610
ACSF3not specifiedUncertain significance
(Sep 9, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr16:89169051
GRCh38:
Chr16:89102643
ACSF3not providedLikely pathogenic
(Oct 3, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr16:89169073
GRCh38:
Chr16:89102665
ACSF3Combined malonic and methylmalonic aciduriaPathogenic
(Aug 14, 2011)
no assertion criteria provided
37.
GRCh37:
Chr16:89169101
GRCh38:
Chr16:89102693
ACSF3not specifiedLikely benign
(Aug 26, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr16:89169141
GRCh38:
Chr16:89102733
ACSF3not specifiedUncertain significance
(Feb 21, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr16:89178529
GRCh38:
Chr16:89112121
ACSF3not specifiedLikely benign
(Sep 19, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr16:89178531
GRCh38:
Chr16:89112123
ACSF3not specifiedBenign
(Mar 8, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr16:89180740
GRCh38:
Chr16:89114332
ACSF3not specifiedLikely benign
(Aug 22, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr16:89180741
GRCh38:
Chr16:89114333
ACSF3not specifiedLikely benign
(Oct 20, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr16:89180765
GRCh38:
Chr16:89114357
ACSF3not specifiedBenign
(May 18, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr16:89180797
GRCh38:
Chr16:89114389
ACSF3not providedLikely pathogenic
(May 11, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr16:89180842
GRCh38:
Chr16:89114434
ACSF3Combined malonic and methylmalonic aciduriaPathogenic
(Aug 14, 2011)
no assertion criteria provided
46.
GRCh37:
Chr16:89180844
GRCh38:
Chr16:89114436
ACSF3Combined malonic and methylmalonic aciduria, not specified, not provided
Conflicting interpretations of pathogenicity
(Aug 31, 2016)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr16:89180870
GRCh38:
Chr16:89114462
ACSF3not specifiedLikely benign
(Apr 21, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr16:89180899
GRCh38:
Chr16:89114491
ACSF3not specifiedBenign
(Feb 22, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr16:89187213
GRCh38:
Chr16:89120805
ACSF3not specifiedLikely benign
(Apr 12, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr16:89187321
GRCh38:
Chr16:89120913
ACSF3not specifiedUncertain significance
(Sep 1, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr16:89199596
GRCh38:
Chr16:89133188
ACSF3not providedUncertain significance
(Oct 10, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr16:89199605
GRCh38:
Chr16:89133197
ACSF3not specifiedUncertain significance
(Feb 23, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr16:89211662
GRCh38:
Chr16:89145254
ACSF3not specifiedBenign
(Dec 19, 2013)
criteria provided, single submitter
54.
GRCh37:
Chr16:89211669
GRCh38:
Chr16:89145261
ACSF3not specifiedBenign
(Feb 22, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr16:89211677
GRCh38:
Chr16:89145269
ACSF3not specifiedUncertain significance
(May 12, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr16:89211686
GRCh38:
Chr16:89145278
ACSF3not providedLikely pathogenic
(Apr 19, 2017)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr16:89211714
GRCh38:
Chr16:89145306
ACSF3not specifiedUncertain significance
(Aug 18, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr16:89211719
GRCh38:
Chr16:89145311
ACSF3Combined malonic and methylmalonic aciduriaPathogenic
(Aug 14, 2011)
no assertion criteria provided
59.
GRCh37:
Chr16:89211720
GRCh38:
Chr16:89145312
ACSF3Combined malonic and methylmalonic aciduriaPathogenic
(Aug 14, 2011)
no assertion criteria provided
60.
GRCh37:
Chr16:89211754-89211755
GRCh38:
Chr16:89145346-89145347
ACSF3not providedPathogenic
(May 21, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr16:89211775
GRCh38:
Chr16:89145367
ACSF3not specifiedLikely benign
(Feb 22, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr16:89211778
GRCh38:
Chr16:89145370
ACSF3not specifiedUncertain significance
(Jan 26, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr16:89211820
GRCh38:
Chr16:89145412
ACSF3not specifiedLikely benign
(Sep 28, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr16:89212328
GRCh38:
Chr16:89145920
ACSF3not specifiedLikely benign
(Aug 26, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr16:89212400
GRCh38:
Chr16:89145992
ACSF3not specifiedUncertain significance
(Dec 31, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr16:89212411
GRCh38:
Chr16:89146003
ACSF3Combined malonic and methylmalonic aciduriaPathogenic
(Aug 14, 2011)
no assertion criteria provided
67.
GRCh37:
Chr16:89212452
GRCh38:
Chr16:89146044
ACSF3not providedPathogenic
(Jun 2, 2015)
criteria provided, single submitter
68.
GRCh37:
Chr16:89220488
GRCh38:
Chr16:89154080
ACSF3not specifiedLikely benign
(Feb 11, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr16:89220492
GRCh38:
Chr16:89154084
ACSF3not specifiedLikely benign
(Dec 13, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr16:89220513
GRCh38:
Chr16:89154105
ACSF3not specifiedLikely benign
(Jan 23, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr16:89220556
GRCh38:
Chr16:89154148
ACSF3Combined malonic and methylmalonic aciduria, not providedPathogenic
(Jun 17, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:89220602
GRCh38:
Chr16:89154194
ACSF3not providedLikely pathogenic
(Oct 20, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr16:88985997-89962916
See casesUncertain significanceno assertion criteria provided
74.
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
75.
GRCh37:
Chr16:89134317-89368034
CDH15, ANKRD11, SLC22A31, ZNF778, ACSF3See casesUncertain significanceno assertion criteria provided
76.
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
77.
GRCh37:
Chr16:88666177-89472627
16q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
78.
GRCh37:
Chr16:89161684-89505106
CDH15, ANKRD11, SLC22A31, ZNF778, ACSF3, LOC10192781716q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
79.
GRCh37:
Chr16:87183661-89520803
16q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
80.
GRCh37:
Chr16:88630607-89607742
16q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
81.
GRCh37:
Chr16:88230760-89363742
16q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
82.
GRCh37:
Chr16:88556191-89557911
16q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
83.
GRCh37:
Chr16:88755312-89584412
16q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
84.
GRCh37:
Chr16:88230961-89363602
16q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
85.
GRCh37:
Chr16:87340135-89335428
16q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
86.
GRCh37:
Chr16:88635000-89628950
16q24.3 microdeletion syndromePathogenic
(Aug 1, 2016)
no assertion criteria provided
87.
GRCh37:
Chr16:88601532-89713753
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr16:87687199-89304429
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr16:74872514-90274440
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr16:86983712-89402222
GRCh38:
Chr16:86950106-89335814
See casesPathogenic
(Oct 1, 2013)
no assertion criteria provided
91.
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
92.
GRCh37:
Chr16:80101212-90124279
GRCh38:
Chr16:80067315-90057871
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
93.
GRCh37:
Chr16:76370100-90155062
GRCh38:
Chr16:76336203-90088654
AFG3L1P, APRT, GAS8-AS1, CA5A, CBFA2T3, CDH13, CDH15, COX4I1, CYBA, DPEP1, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, NR3C1P1, HSBP1, HSD17B2, IRF8, MAF, MC1R, MVD, CHMP1A, PLCG2, RPL13, SPG7, GAN, SLC7A5, CDK10, MBTPS1, TAF1C, USP10, VPS9D1, KIAA0513, PIEZO1, ATP2C2, CLEC3A, MPHOSPH6, EMC8, TUBB3, PRDM7, MON1B, TCF25, ZCCHC14, GSE1, ATMIN, COTL1, MLYCD, CPNE7, IL17C, ANKRD11, OSGIN1, GINS2, TRAPPC2L, WWOX, BCO1, NECAB2, KLHDC4, DEF8, BANP, ZDHHC7, CENPN, CMC2, JPH3, VAT1L, TLDC1, WFDC1, MTHFSD, DBNDD1, KLHL36, FBXO31, CMIP, CDT1, MAP1LC3B, DYNLRB2, HSDL1, CRISPLD2, SPIRE2, ZNF469, CNTNAP4, CENPBD1, ZNF276, KCNG4, SDR42E1, PKD1L2, RNF166, C16orf46, DNAAF1, SPATA2L, SPATA33, ZC3H18, CDYL2, SLC38A8, SLC22A31, FLJ30679, LINC02135, ZFPM1, ADAD2, ADAMTS18, SNAI3-AS1, LINC00311, ZNF778, ACSF3, LINC00304, NUDT7, SNAI3, LOC339059, FAM92B, CTU2, PABPN1L, LINC02139, FENDRR, LOC400553, ZC3H18-AS1, LINC02138, C16orf74, LINC02181, SNORD68, LINC00917, VPS9D1-AS1, LOC100129215, LOC100129617, LOC100129697, URAHP, SYCE1L, TRM-CAT6-1, LOC100287036, LOC100289580, MIR1910, MIR3182, LINC01082, C16orf95, MIR4720, MIR4722, MIR4719, MIR5093, MIR5189, LINC02170, LINC01081, LOC101927793, LOC101927817, LINC02125, LINC01229, LINC01227, LOC101928417, LOC101928446, LOC101928557, LINC02189, LOC101928659, LOC101928682, LOC101928708, LOC101928737, LINC02182, MIR6504, MIR6775, MIR7854, MIR8058, MIR6774, MAFTRR, WWOX-AS1, LOC102724084, LOC102724163, LINC02188, LOC102724467, FOXC2-AS1, LINC02131, ATP2C2-AS1, LINC02176, LOC105371414
See casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
94.
GRCh37:
Chr16:80751188-90163070
GRCh38:
Chr16:80717291-90096662
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
95.
GRCh37:
Chr16:89145482-89354085
GRCh38:
Chr16:89079074-89287677
CDH15, ANKRD11, SLC22A31, ZNF778, ACSF3, LINC00304, LINC02138See casesUncertain significance
(Feb 20, 2013)
no assertion criteria provided
96.
GRCh37:
Chr16:85586582-90163403
GRCh38:
Chr16:85552976-90096995
See casesPathogenic
(May 3, 2012)
no assertion criteria provided
97.
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
98.
GRCh37:
Chr16:75411879-90148400
GRCh38:
Chr16:75377981-90081992
AFG3L1P, APRT, GAS8-AS1, CA5A, CBFA2T3, CDH13, CDH15, COX4I1, CYBA, DPEP1, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, NR3C1P1, HSBP1, HSD17B2, IRF8, KARS, MAF, MC1R, CHST6, MVD, CHMP1A, PLCG2, RPL13, SPG7, GAN, SLC7A5, CDK10, MBTPS1, TAF1C, USP10, VPS9D1, KIAA0513, PIEZO1, ATP2C2, CLEC3A, MPHOSPH6, EMC8, TUBB3, CFDP1, PRDM7, GABARAPL2, MON1B, TCF25, ZCCHC14, GSE1, ATMIN, COTL1, MLYCD, ADAT1, CHST5, CPNE7, IL17C, ANKRD11, OSGIN1, GINS2, TRAPPC2L, WWOX, BCO1, TERF2IP, NECAB2, KLHDC4, DEF8, BANP, ZDHHC7, CENPN, CMC2, JPH3, VAT1L, TLDC1, WFDC1, MTHFSD, DBNDD1, TMEM231, KLHL36, FBXO31, CMIP, CDT1, MAP1LC3B, DYNLRB2, HSDL1, CRISPLD2, SPIRE2, ZNF469, CNTNAP4, CENPBD1, ZNF276, KCNG4, SDR42E1, PKD1L2, RNF166, C16orf46, DNAAF1, SPATA2L, SPATA33, ZC3H18, CDYL2, TMEM170A, SLC38A8, SLC22A31, FLJ30679, LINC02135, ZFPM1, ADAD2, ADAMTS18, SNAI3-AS1, LINC00311, ZNF778, ACSF3, LINC00304, NUDT7, SNAI3, LOC339059, FAM92B, CTU2, PABPN1L, LINC02139, FENDRR, LOC400553, ZC3H18-AS1, LINC02138, C16orf74, LINC02181, SNORD68, LINC00917, DUXB, VPS9D1-AS1, LOC100129215, LOC100129617, LOC100129697, URAHP, SYCE1L, TRM-CAT6-1, LOC100287036, LOC100289580, MIR1910, MIR3182, LINC01082, C16orf95, MIR4720, MIR4722, MIR4719, MIR5093, MIR5189, LINC02170, LINC01081, LOC101927793, LOC101927817, LINC02125, LINC01229, LINC01227, LOC101928417, LOC101928446, LOC101928557, LINC02189, LOC101928659, LOC101928682, LOC101928708, LOC101928737, LINC02182, MIR6504, MIR6775, MIR7854, MIR8058, MIR6774, MAFTRR, WWOX-AS1, LOC102724084, LOC102724163, LINC02188, LOC102724467, FOXC2-AS1, LINC02131, ATP2C2-AS1, LINC02176, LOC105371414
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
99.
GRCh37:
Chr16:87881822-90163403
GRCh38:
Chr16:87848216-90096995
See casesLikely pathogenic
(Feb 14, 2012)
no assertion criteria provided
100.
GRCh37:
Chr16:83512058-89999318
GRCh38:
Chr16:83478453-89932910
See casesLikely pathogenic
(Dec 2, 2011)
no assertion criteria provided
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