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Items: 1 to 100 of 162

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:1-8180513
Chr16:76935310-90354753
not providedLikely pathogenic
(Nov 24, 2015)
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:
Chr16:56368689-90141355
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, 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:
Chr16:84178874
GRCh38:
Chr16:84145269
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr16:84178900
GRCh38:
Chr16:84145295
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr16:84178905
GRCh38:
Chr16:84145300
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr16:84178918
GRCh38:
Chr16:84145313
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr16:84178946
GRCh38:
Chr16:84145341
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr16:84178963
GRCh38:
Chr16:84145358
DNAAF1Primary ciliary dyskinesiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr16:84179027
GRCh38:
Chr16:84145422
DNAAF1not specifiedLikely benigncriteria provided, single submitter
12.
GRCh37:
Chr16:84179157
GRCh38:
Chr16:84145552
DNAAF1Primary ciliary dyskinesia, not specifiedBenign
(Sep 2, 2015)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr16:84180705-84186080
GRCh38:
Chr16:84147100-84152475
DNAAF1Ciliary dyskinesia, primary, 13Pathogenic
(Sep 15, 2011)
no assertion criteria provided
14.
GRCh37:
Chr16:84182668
GRCh38:
Chr16:84149063
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr16:84182677
GRCh38:
Chr16:84149072
DNAAF1Primary ciliary dyskinesiaPathogenic
(Aug 29, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr16:84182678
GRCh38:
Chr16:84149073
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jul 15, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr16:84182715
GRCh38:
Chr16:84149110
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr16:84183880
GRCh38:
Chr16:84150275
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr16:84183898
GRCh38:
Chr16:84150293
DNAAF1not specifiedLikely benigncriteria provided, single submitter
20.
GRCh37:
Chr16:84183907
GRCh38:
Chr16:84150302
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr16:84183964
GRCh38:
Chr16:84150359
DNAAF1not specifiedBenigncriteria provided, single submitter
22.
GRCh37:
Chr16:84183977
GRCh38:
Chr16:84150372
DNAAF1not specifiedBenigncriteria provided, single submitter
23.
GRCh37:
Chr16:84188164
GRCh38:
Chr16:84154559
DNAAF1not providedUncertain significance
(Aug 1, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr16:84188223
GRCh38:
Chr16:84154618
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Nov 10, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr16:84188261
GRCh38:
Chr16:84154656
DNAAF1not specifiedLikely benigncriteria provided, single submitter
26.
GRCh37:
Chr16:84188336
GRCh38:
Chr16:84154731
DNAAF1Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr16:84188337
GRCh38:
Chr16:84154732
DNAAF1Ciliary dyskinesia, primary, 13Pathogenic
(Dec 1, 2009)
no assertion criteria provided
28.
GRCh37:
Chr16:84188343
GRCh38:
Chr16:84154738
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr16:84188353
GRCh38:
Chr16:84154748
DNAAF1Kartagener syndrome, Ciliary dyskinesia, primary, 13Pathogenic
(Sep 3, 2015)
no assertion criteria provided
30.
GRCh37:
Chr16:84188375
GRCh38:
Chr16:84154770
DNAAF1Primary ciliary dyskinesia, not specifiedUncertain significance
(Oct 6, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr16:84188430
GRCh38:
Chr16:84154825
DNAAF1not specifiedBenigncriteria provided, single submitter
32.
GRCh37:
Chr16:84189232
GRCh38:
Chr16:84155627
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Mar 18, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr16:84189233
GRCh38:
Chr16:84155628
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Sep 27, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr16:84189298
GRCh38:
Chr16:84155693
DNAAF1Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr16:84189348
GRCh38:
Chr16:84155743
DNAAF1not specifiedUncertain significance
(Sep 14, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr16:84189349
GRCh38:
Chr16:84155744
DNAAF1Primary ciliary dyskinesia, not specifiedBenign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr16:84193306
GRCh38:
Chr16:84159701
DNAAF1Primary ciliary dyskinesiaLikely benign
(Mar 8, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr16:84193318
GRCh38:
Chr16:84159713
DNAAF1Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Dec 20, 2016)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr16:84193330
GRCh38:
Chr16:84159725
DNAAF1Ciliary dyskinesia, primary, 13Pathogenic
(Dec 1, 2009)
no assertion criteria provided
40.
GRCh37:
Chr16:84193349
GRCh38:
Chr16:84159744
DNAAF1Ciliary dyskinesia, primary, 13Pathogenic
(Sep 15, 2011)
no assertion criteria provided
41.
GRCh37:
Chr16:84193380
GRCh38:
Chr16:84159775
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr16:84199372-84199375
GRCh38:
Chr16:84165766-84165769
DNAAF1not specifiedBenign/Likely benign
(Sep 24, 2014)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr16:84199444
GRCh38:
Chr16:84165838
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jan 17, 2017)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:84199513
GRCh38:
Chr16:84165907
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jan 17, 2017)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr16:84199520
GRCh38:
Chr16:84165914
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr16:84199569
GRCh38:
Chr16:84165963
DNAAF1Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr16:84199570
GRCh38:
Chr16:84165964
DNAAF1not specifiedLikely benigncriteria provided, single submitter
48.
GRCh37:
Chr16:84203460
GRCh38:
Chr16:84169854
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Mar 25, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr16:84203467
GRCh38:
Chr16:84169861
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Oct 18, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr16:84203503
GRCh38:
Chr16:84169897
DNAAF1not specifiedUncertain significance
(Sep 18, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr16:84203511
GRCh38:
Chr16:84169905
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:84203517
GRCh38:
Chr16:84169911
DNAAF1Primary ciliary dyskinesiaConflicting interpretations of pathogenicity
(Aug 30, 2016)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr16:84203595
GRCh38:
Chr16:84169989
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr16:84203607
GRCh38:
Chr16:84170001
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr16:84203612
GRCh38:
Chr16:84170006
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr16:84203625
GRCh38:
Chr16:84170019
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Sep 29, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr16:84203631
GRCh38:
Chr16:84170025
DNAAF1not specifiedLikely benigncriteria provided, single submitter
58.
GRCh37:
Chr16:84203639
GRCh38:
Chr16:84170033
DNAAF1Primary ciliary dyskinesia, not specifiedUncertain significance
(Oct 24, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:84203661
GRCh38:
Chr16:84170055
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Dec 13, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:84203679
GRCh38:
Chr16:84170073
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr16:84203692-84203769
GRCh38:
Chr16:84170086-84170163
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Aug 21, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr16:84203730
GRCh38:
Chr16:84170124
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr16:84203733
GRCh38:
Chr16:84170127
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Aug 21, 2016)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr16:84203734
GRCh38:
Chr16:84170128
DNAAF1Primary ciliary dyskinesiaBenign
(Jan 23, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr16:84203737
GRCh38:
Chr16:84170131
DNAAF1Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Jan 24, 2017)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr16:84203740-84203741
GRCh38:
Chr16:84170134-84170135
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Apr 9, 2015)
criteria provided, single submitter
67.
GRCh37:
Chr16:84203751
GRCh38:
Chr16:84170145
DNAAF1not specifiedLikely benigncriteria provided, single submitter
68.
GRCh37:
Chr16:84203783
GRCh38:
Chr16:84170177
DNAAF1Kartagener syndrome, Ciliary dyskinesia, primary, 13Pathogenic
(Sep 3, 2015)
no assertion criteria provided
69.
GRCh37:
Chr16:84203784
GRCh38:
Chr16:84170178
DNAAF1Primary ciliary dyskinesia, not specifiedLikely benign
(Feb 16, 2016)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr16:84203788
GRCh38:
Chr16:84170182
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Nov 24, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr16:84203793
GRCh38:
Chr16:84170187
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Mar 7, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr16:84203811
GRCh38:
Chr16:84170205
DNAAF1Primary ciliary dyskinesiaBenign
(Oct 15, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr16:84203824
GRCh38:
Chr16:84170218
DNAAF1Primary ciliary dyskinesiaUncertain significance
(May 1, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr16:84203857
GRCh38:
Chr16:84170251
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr16:84203929
GRCh38:
Chr16:84170323
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:84203930
GRCh38:
Chr16:84170324
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Apr 22, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:84203933
GRCh38:
Chr16:84170327
DNAAF1not specifiedUncertain significance
(Feb 15, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr16:84203939
GRCh38:
Chr16:84170333
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr16:84203940
GRCh38:
Chr16:84170334
DNAAF1Primary ciliary dyskinesiaLikely benign
(Oct 4, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr16:84203975
GRCh38:
Chr16:84170369
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr16:84205855-84205857
GRCh38:
Chr16:84172249-84172251
DNAAF1not specifiedLikely benigncriteria provided, single submitter
82.
GRCh37:
Chr16:84205869
GRCh38:
Chr16:84172263
DNAAF1Primary ciliary dyskinesia, not specifiedUncertain significance
(May 14, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr16:84205904
GRCh38:
Chr16:84172298
DNAAF1Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Dec 5, 2016)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr16:84205910
GRCh38:
Chr16:84172304
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr16:84205953
GRCh38:
Chr16:84172347
DNAAF1Primary ciliary dyskinesia, not specifiedBenign
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:84208294
GRCh38:
Chr16:84174688
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr16:84208329
GRCh38:
Chr16:84174723
DNAAF1Primary ciliary dyskinesiaLikely pathogenic
(Apr 22, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr16:84208335
GRCh38:
Chr16:84174729
DNAAF1Primary ciliary dyskinesia, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr16:84209498
GRCh38:
Chr16:84175892
DNAAF1not specifiedBenigncriteria provided, single submitter
90.
GRCh37:
Chr16:84209558
GRCh38:
Chr16:84175952
DNAAF1not specifiedLikely benigncriteria provided, single submitter
91.
GRCh37:
Chr16:84209568
GRCh38:
Chr16:84175962
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr16:84209590
GRCh38:
Chr16:84175984
DNAAF1Primary ciliary dyskinesia, not specifiedConflicting interpretations of pathogenicity
(Nov 7, 2016)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr16:84209609
GRCh38:
Chr16:84176003
DNAAF1Primary ciliary dyskinesia, not specifiedBenign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr16:84209634
GRCh38:
Chr16:84176028
DNAAF1Primary ciliary dyskinesia, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr16:84209660
GRCh38:
Chr16:84176054
DNAAF1not specifiedBenigncriteria provided, single submitter
96.
GRCh37:
Chr16:84209678
GRCh38:
Chr16:84176072
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr16:84209688
GRCh38:
Chr16:84176082
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr16:84209692
GRCh38:
Chr16:84176086
DNAAF1Primary ciliary dyskinesiaUncertain significance
(Jan 20, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr16:84209738
GRCh38:
Chr16:84176132
DNAAF1Primary ciliary dyskinesia, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr16:84209815
GRCh38:
Chr16:84176209
DNAAF1Primary ciliary dyskinesia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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