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Items: 1 to 100 of 111

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
FA2HSpastic paraplegia 35Pathogenic
(Nov 1, 2008)
no assertion criteria provided
2.
GRCh37:
Chr16:46615804-90142285
AARS, ADCY7, AP1G1, 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, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, MC1R, CHST6, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, 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, KIAA0895L, LOC654780, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
3.
GRCh37:
Chr16:56368689-90141355
AARS, AP1G1, 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, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, MC1R, CHST6, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, 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, KIAA0895L, LOC654780, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
4.
GRCh37:
Chr16:72107834-90142285
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
5.
GRCh37:
Chr16:74746900
GRCh38:
Chr16:74713002
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr16:74746957
GRCh38:
Chr16:74713059
FA2HSpastic paraplegia 35Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr16:74746959
GRCh38:
Chr16:74713061
FA2HSpastic paraplegia 35Likely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr16:74747024
GRCh38:
Chr16:74713126
FA2HSpastic paraplegia 35Benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr16:74747130
GRCh38:
Chr16:74713232
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr16:74747177
GRCh38:
Chr16:74713279
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr16:74747201
GRCh38:
Chr16:74713303
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr16:74747267
GRCh38:
Chr16:74713369
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr16:74747275
GRCh38:
Chr16:74713377
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr16:74747305
GRCh38:
Chr16:74713407
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr16:74747316
GRCh38:
Chr16:74713418
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr16:74747435
GRCh38:
Chr16:74713537
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr16:74747436
GRCh38:
Chr16:74713538
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr16:74747442
GRCh38:
Chr16:74713544
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr16:74747451
GRCh38:
Chr16:74713553
FA2HSpastic paraplegia 35Benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr16:74747568
GRCh38:
Chr16:74713670
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr16:74747582
GRCh38:
Chr16:74713684
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr16:74747641
GRCh38:
Chr16:74713743
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr16:74747684
GRCh38:
Chr16:74713786
FA2HSpastic paraplegia 35Likely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr16:74747697
GRCh38:
Chr16:74713799
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr16:74747786
GRCh38:
Chr16:74713888
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr16:74747805
GRCh38:
Chr16:74713907
FA2HSpastic paraplegia 35Likely benign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr16:74747807
GRCh38:
Chr16:74713909
FA2HSpastic paraplegia 35Likely benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr16:74747835
GRCh38:
Chr16:74713937
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr16:74747845
GRCh38:
Chr16:74713947
FA2HSpastic paraplegia 35Likely benign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr16:74747938
GRCh38:
Chr16:74714040
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr16:74748026
GRCh38:
Chr16:74714128
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr16:74748054
GRCh38:
Chr16:74714156
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr16:74748082
GRCh38:
Chr16:74714184
FA2Hnot specifiedUncertain significance
(Jul 17, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr16:74748094
GRCh38:
Chr16:74714196
FA2HSpastic paraplegia 35, not specifiedUncertain significance
(Sep 14, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr16:74748095
GRCh38:
Chr16:74714197
FA2Hnot provided, Spastic paraplegiaUncertain significance
(Apr 30, 2017)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr16:74748120
GRCh38:
Chr16:74714222
FA2HSpastic paraplegia 35Likely benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr16:74750229
GRCh38:
Chr16:74716331
FA2Hnot specifiedBenign
(Aug 3, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr16:74750237
GRCh38:
Chr16:74716339
FA2HSpastic paraplegia 35, not specified, Spastic paraplegia
Benign
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr16:74750252
GRCh38:
Chr16:74716354
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr16:74750254
GRCh38:
Chr16:74716356
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr16:74750351
GRCh38:
Chr16:74716453
FA2HSpastic paraplegia 35, not specified, Spastic paraplegia
Benign/Likely benign
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr16:74750359
GRCh38:
Chr16:74716461
FA2Hnot specifiedUncertain significance
(Aug 12, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr16:74750396
GRCh38:
Chr16:74716498
FA2HSpastic paraplegia 35, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:74750405
GRCh38:
Chr16:74716507
FA2HSpastic paraplegia 35, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr16:74750437
GRCh38:
Chr16:74716539
FA2HSpastic paraplegia 35, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr16:74750440
GRCh38:
Chr16:74716542
FA2HSpastic paraplegia 35, not providedUncertain significance
(Jul 31, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:74750462-74750463
GRCh38:
Chr16:74716564-74716565
FA2HSpastic paraplegiaPathogenic
(Feb 1, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr16:74750489
GRCh38:
Chr16:74716591
FA2Hnot specifiedUncertain significance
(Feb 13, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr16:74752890
GRCh38:
Chr16:74718992
FA2Hnot providedLikely pathogenic
(Dec 30, 2015)
criteria provided, single submitter
50.
GRCh37:
Chr16:74752910
GRCh38:
Chr16:74719012
FA2Hnot specifiedUncertain significance
(Apr 2, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr16:74752965
GRCh38:
Chr16:74719067
FA2HSpastic paraplegia 35Pathogenic
(Apr 1, 2012)
no assertion criteria provided
52.
GRCh37:
Chr16:74752969
GRCh38:
Chr16:74719071
FA2HSpastic paraplegia 35Pathogenic
(Apr 1, 2010)
no assertion criteria provided
53.
GRCh37:
Chr16:74752981
GRCh38:
Chr16:74719083
FA2Hnot provided, Spastic paraplegiaConflicting interpretations of pathogenicity
(Aug 17, 2017)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr16:74752994
GRCh38:
Chr16:74719096
FA2Hnot specifiedUncertain significance
(Jun 28, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr16:74753023
GRCh38:
Chr16:74719125
FA2HSpastic paraplegiaUncertain significance
(Nov 6, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr16:74760166
GRCh38:
Chr16:74726268
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr16:74760171
GRCh38:
Chr16:74726273
FA2HInborn genetic diseasesPathogenic
(Oct 2, 2013)
criteria provided, single submitter
58.
GRCh37:
Chr16:74760196
GRCh38:
Chr16:74726298
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr16:74760199
GRCh38:
Chr16:74726301
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr16:74760219
GRCh38:
Chr16:74726321
FA2HSpastic paraplegia 35Likely pathogenic
(Apr 15, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr16:74760225-74760226
GRCh38:
Chr16:74726327-74726328
FA2HSpastic paraplegia 35Pathogenic
(Apr 1, 2014)
no assertion criteria provided
62.
GRCh37:
Chr16:74761188
GRCh38:
Chr16:74727290
FA2HSpastic paraplegia 35, not providedPathogenic
(Aug 18, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr16:74761205
GRCh38:
Chr16:74727307
FA2HSpastic paraplegiaUncertain significance
(Aug 16, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr16:74761219
GRCh38:
Chr16:74727321
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr16:74761247
GRCh38:
Chr16:74727349
FA2HSpastic paraplegiaUncertain significance
(Mar 12, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr16:74761263
GRCh38:
Chr16:74727365
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr16:74773946
GRCh38:
Chr16:74740048
FA2Hnot specified, not provided, Spastic paraplegia
Conflicting interpretations of pathogenicity
(May 11, 2017)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr16:74773947
GRCh38:
Chr16:74740049
FA2Hnot specifiedLikely benign
(Dec 8, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr16:74773995
GRCh38:
Chr16:74740097
FA2HSpastic paraplegia 35, not specified, Spastic paraplegia
Benign/Likely benign
(Aug 1, 2017)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr16:74808422
GRCh38:
Chr16:74774524
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr16:74808425
GRCh38:
Chr16:74774527
FA2HSpastic paraplegia 35, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:74808449
GRCh38:
Chr16:74774551
FA2Hnot provided, Spastic paraplegiaUncertain significance
(Jun 20, 2017)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr16:74808478-74808495
GRCh38:
Chr16:74774580-74774597
FA2HSpastic paraplegia 35Pathogenic
(Apr 1, 2010)
no assertion criteria provided
74.
GRCh37:
Chr16:74808515
GRCh38:
Chr16:74774617
FA2Hnot providedLikely pathogenic
(Dec 30, 2015)
criteria provided, single submitter
75.
GRCh37:
Chr16:74808523
GRCh38:
Chr16:74774625
FA2HSpastic paraplegiaUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr16:74808524
GRCh38:
Chr16:74774626
FA2Hnot providedLikely pathogenic
(Sep 5, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr16:74808537
Chr16:74808495-74808504
GRCh38:
Chr16:74774639
Chr16:74774597-74774606
FA2HSpastic paraplegia 35Likely pathogenic
(Oct 22, 2013)
no assertion criteria provided
78.
GRCh37:
Chr16:74808551
GRCh38:
Chr16:74774653
FA2HSpastic paraplegia 35Pathogenic
(Nov 1, 2008)
no assertion criteria provided
79.
GRCh37:
Chr16:74808560
GRCh38:
Chr16:74774662
FA2HSpastic paraplegiaUncertain significance
(Sep 26, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr16:74808577-74808579
GRCh38:
Chr16:74774679-74774681
FA2HSpastic paraplegiaUncertain significance
(Nov 6, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr16:74808611
GRCh38:
Chr16:74774713
FA2Hnot specifiedUncertain significance
(Jun 28, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr16:74808652
GRCh38:
Chr16:74774754
FA2HSpastic paraplegiaUncertain significance
(Jul 26, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr16:74808727
GRCh38:
Chr16:74774829
FA2HSpastic paraplegia 35Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr16:74808737
GRCh38:
Chr16:74774839
FA2HSpastic paraplegia 35Benign
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr16:74750291-74762108
FA2HSpastic paraplegiaPathogenic
(Jul 26, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr16:9273328-89548493
AARS, ADCY7, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ZFHX3, ATP2A1, BBS2, TNFRSF17, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLN3, CNGB1, COX4I1, COX6A2, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, DHODH, NQO1, SEPT1, DYNC1LI2, E2F4, EMP2, ERCC4, FOXF1, FOXL1, FOXC2, FUS, GALNS, GCSH, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS, KIFC3, KIF22, LCAT, MAF, MAZ, CHST6, CIITA, MMP2, MMP15, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NFATC3, PARN, PHKB, PHKG2, PLCG2, PLK1, POLR2C, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, SPN, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, TERF2, TGFB1I1, TK2, TNP2, TUFM, UMOD, UQCRC2, ZNF19, ZNF23, ZP2, GAN, SLC7A5, SNN, PLA2G10, DOC2A, HIRIP3, SOCS1, EIF3C, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, BCL7C, NPIPA1, ADGRG1, TAOK2, LITAF, BCAR1, MARF1, N4BP1, NUP93, HERPUD1, ZNF646, CCP110, SETD1A, KIAA0513, PIEZO1, DHX38, IST1, RNF40, ATP2C2, HS3ST4, HS3ST2, MVP, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, IGSF6, IRX5, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, CD2BP2, CDIPT, CFDP1, ERN2, CTCF, NFAT5, SRCAP, NUDT21, WWP2, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, CNOT1, PHLPP2, PDXDC1, SMG1, GGA2, ZNF423, NPIPB3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, SF3B3, QPRT, CES3, ADAT1, CHST5, ARL2BP, ORC6, EDC4, PLA2G15, TP53TG3, COG4, PLEKHG4, SH2B1, TBC1D10B, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, MYLPF, EEF2K, OSGIN1, IL21R, PARD6A, TXNDC11, PLLP, METTL9, CKLF, BFAR, AHSP, ZNF771, NIP7, LCMT1, GDE1, FAM96B, GINS2, TPPP3, TRAPPC2L, GPRC5B, WWOX, SYT17, BCO1, TERF2IP, PRMT7, NECAB2, FBXL19, RRN3, KLHDC4, HYDIN, NDE1, DUS2, CHTF8, LPCAT2, TXNL4B, BANP, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, UBFD1, CMC2, COQ9, CIAPIN1, C16orf62, TMEM159, LYRM1, THAP11, JPH3, USP31, MKL2, PDP2, ZNF319, RANBP10, VAT1L, TLDC1, WFDC1, PRM3, CHP2, NOD2, XYLT1, PDF, DPEP2, DPEP3, PAPD5, FBRS, AKTIP, C16orf58, MTHFSD, GINS3, NDRG4, ACD, ZNF747, PRR14, VKORC1, SLX1B, FTO, DCTPP1, FA2H, GDPD3, IRX6, IRX3, PAGR1, RIPOR1, TMEM231, TANGO6, USB1, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, TMC7, SETD6, ESRP2, FAM192A, ATF7IP2, CENPT, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, FAM57B, LONP2, SPNS1, ENKD1, SLC7A6OS, KAT8, NLRC5, DRC7, CAPNS2, COG8, DCTN5, MT4, ZNF469, GPT2, B3GNT9, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, C16orf45, RSPRY1, CCDC189, MYLK3, MARVELD3, COG7, SNX29, MTSS1L, ZNF764, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, CMTM1, PKD1L2, ZNF689, SLC5A11, RNF166, RMI2, ACSM1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, IQCK, ZC3H18, GPR139, CDYL2, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, C16orf92, GSG1L, SLC22A31, IL34, TMED6, ZNF785, ZNF688, PRSS36, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, LDHD, FUK, MLKL, ZNF778, ACSF3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MPV17L, PDZD9, CNEP1R1, ANKS4B, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, C16orf54, INO80E, NUDT7, ZNF843, CLEC18C, SNAI3, PRSS53, FAM92B, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, TEPP, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, C16orf52, TVP23A, MIR365A, SYCE1L, NPIPB5, SDR42E2, NPIPA5, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
See casesUncertain significance
(Jun 23, 2014)
no assertion criteria provided
87.
GRCh37:
Chr16:85881-90155062
AARS, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, 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, 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, MT1M, 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, TEDC2, 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, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, 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 casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
88.
GRCh37:
Chr16:85881-90155062
AARS, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, 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, 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, MT1M, 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, TEDC2, 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, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, 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 casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
89.
GRCh37:
Chr16:57051473-89797669
AARS, AP1G1, AGRP, APRT, ZFHX3, CA5A, CA7, CALB2, CBFA2T3, CBFB, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CNGB1, COX4I1, CSNK2A2, CTRB1, CTRL, CYBA, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FOXF1, FOXL1, FOXC2, GALNS, GCSH, GLG1, GOT2, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, CHST6, MMP15, MVD, NFATC3, CHMP1A, PLCG2, POLR2C, PSKH1, PSMB10, PSMD7, RPL13, RRAD, CCL17, CCL22, CX3CL1, ST3GAL2, SLC9A5, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, ADGRG1, BCAR1, VPS9D1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, KATNB1, EMC8, CFDP1, CTCF, NFAT5, WWP2, DDX19B, GABARAPL2, MON1B, 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, DUS2, CHTF8, TXNL4B, BANP, PDPR, RFWD3, SLC38A7, 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, 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, ZNF469, B3GNT9, UTP4, ZNRF1, CNTNAP4, RSPRY1, MARVELD3, MTSS1L, 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, MIR140, NPIPB15, CTRB2, MIR328, CLEC18B, KIAA0895L, LOC654780, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
See casesPathogenic
(Mar 16, 2015)
no assertion criteria provided
90.
GRCh37:
Chr16:74150909-77077326
See casesUncertain significance
(Jun 23, 2014)
no assertion criteria provided
91.
GRCh37:
Chr16:46464488-90155062
AARS, ADCY7, AP1G1, 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, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, MC1R, CHST6, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, 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, KIAA0895L, LOC654780, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
See casesPathogenicno assertion criteria provided
92.
GRCh37:
Chr16:74530491-74754442
GLG1, RFWD3, FA2H, MLKLSee casesUncertain significanceno assertion criteria provided
93.
GRCh37:
Chr16:69193-90274381
AARS, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, 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, 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, MT1M, 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, TEDC2, 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, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, 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
94.
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, DPEP2NB, 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, LINC02170, BEAN1-AS1, LINC01572, LOC101928035, LINC02125, LINC01229, LINC01227, LOC101928417, LOC101928446, MIR6504, MIR7854, MIR8058, MIR6773, MAFTRR, WWOX-AS1, LOC102724084, LOC105371328, LINC02136, LOC105371335, CPHXL, LINC02131, LOC105376772, LOC106699570, LOC107984813
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
95.
GRCh37:
Chr16:52933095-90155062
GRCh38:
Chr16:52899183-90088654
AARS, AP1G1, 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, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, MC1R, CHST6, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, 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, KIAA0895L, LOC654780, SNORA46, SNORA50A, SNORD71, SNORD111, LOC729159, LINC00917, DUXB, SNORD111B, VPS9D1-AS1, LOC100128882, LOC100129215, LOC100129617, LOC100129697, VAC14-AS1, SYCE1L, DPEP2NB, 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, SNORA70D, MIR3182, MIR1972-2, MIR3935, FTO-IT1, LINC00920, LOC100505942, LOC100506083, LINC01568, LOC100506281, LINC01082, C16orf95, CKLF-CMTM1, MIR4720, MIR4722, MIR4719, MIR5093, MIR5189, 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,