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Items: 1 to 100 of 218

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:716662-15836961
GRCh38:
Chr16:666662-15743104
ABAT, ABCA3, ADCY9, ATP6V0C, TNFRSF17, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, GFER, GRIN2A, GSPT1, HAGH, HMOX2, IGFALS, MEFV, CIITA, MYH11, NUBP1, NDUFB10, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, SRL, SSTR5, ELOB, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, SNN, PLA2G10, SOCS1, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, NPIPA1, SLC9A3R2, LITAF, MARF1, SEC14L5, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, TBL3, RNPS1, PRSS21, PDXDC1, CLUAP1, MAPK8IP3, CLEC16A, MGRN1, NOMO1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, RSL1D1, SNORA64, SNORD60, DEXI, C16orf72, ZC3H7A, UBN1, CDIP1, SOX8, AMDHD2, PAM16, TXNDC11, NAGPA, BFAR, TNFRSF12A, MSRB1, GNG13, KCTD5, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, CPPED1, ALG1, NMRAL1, TBC1D24, MRTFB, CASKIN1, CRAMP1, PRM3, CHTF18, PRSS22, MLST8, MMP25, CIAO3, TPSB2, HS3ST6, UNKL, LINC00254, LMF1, ANTKMT, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, ROGDI, TMEM204, NAA60, ATF7IP2, TEDC2, ZNF205-AS1, FAHD1, PRSS27, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, BMERB1, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, SNX29, RPUSD1, FLYWCH2, VASN, TSR3, RMI2, NTAN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, FBXL16, SSTR5-AS1, ZNF597, BICDL2, C16orf89, DNAAF8, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, MPV17L, PRSS33, NPW, BRICD5, PGP, GREP1, LINC00921, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, LOC400499, BCAR4, SMIM22, SNORA10, MIR193B, MIR484, NPIPA3, NPIPA2, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, TEDC2-AS1, NPIPB2, SHISA9, SNHG9, CEMP1, TVP23A, MIR940, MIR365A, LOC100128770, SRRM2-AS1, MIR193BHG, LOC100130283, MIR1225, TRP-AGG1-1, TRK-CTT4-1, TRT-CGT2-1, TRK-CTT3-1, TRP-AGG2-7, TRR-CCT3-1, TRR-CCG1-3, TRK-CTT5-1, TRP-CGG1-2, TRR-CCT5-1, TRP-TGG3-5, TRK-CTT2-5, TRP-AGG2-8, TRP-TGG3-3, TRP-TGG3-4, LOC100288162, NPIPA5, MIR1972-1, MIR548H2, MIR3180-1, MIR3179-1, MIR3178, MIR3177, MTRNR2L4, MIR3677, MIR3180-4, MIR3670-1, MIR3180-5, LOC100505915, SNHG19, ERVK13-1, MMP25-AS1, ZNF213-AS1, LINC01569, NAGPA-AS1, CORO7-PAM16, MIR4718, MIR4717, MIR4516, GLIS2-AS1, LINC01570, LINC02177, LOC101927131, LINC02185, LINC02186, LMF1-AS1, LOC101929613, LITAFD, MIR6126, MIR6506, MIR6511B1, MIR6767, MIR6768, MIR6770-1, MIR8065, MIR6511B2, MIR6511A1, MIR6769A, LINC02861, LINC01195, LINC01177, PERCC1, LOC105371046, LINC02124, LOC105371049, LINC02164, LINC02152, USP7-AS1, LOC105371083, RSL1D1-DT, LINC02130, LINC01290, MIR3677HG, LOC106783500, LOC106799840, LOC106799915, LOC107522031, SNORA3C, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111464986, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340386, LOC112340387, LOC112340388, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939950, LOC113939951, LOC115253417, CEROX1, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155643
2.
GRCh37:
Chr16:4694893-29182141
GRCh38:
Chr16:4644892-29170820
LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC112340389, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939949, LOC113939951, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC116276449, LOC116276450, LOC116276451, LOC400499, LYRM1, MARF1, METTL22, METTL9, MGRN1, MIR1273H, MIR193B, MIR193BHG, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR365A, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR3680-1, MIR4517, MIR4718, MIR4721, MIR484, MIR548H2, MIR548W, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6769A, MIR6770-1, MIR6770-2, MIR6770-3, MIR6862-1, MIR6862-2, MIR8065, MOSMO, MPV17L, MRTFB, MYH11, NAGPA, NAGPA-AS1, NDE1, NDUFAB1, NFATC2IP, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NPIPA8, NPIPB2, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NTAN1, NUBP1, NUDT16L1, NUPR1, OTOA, PALB2, PARN, PDILT, PDXDC1, PDZD9, PLA2G10, PLK1, PMM2, POLR3E, PPL, PRKCB, PRM1, PRM2, PRM3, RABEP2, RBBP6, RBFOX1, REXO5, RMI2, ROGDI, RPS15A, RRN3, RSL1D1, RSL1D1-DT, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPTIN12, SGF29, SH2B1, SHISA9, SLC5A11, SMG1, SMIM22, SNN, SNX29, SOCS1, SPNS1, SULT1A1, SULT1A2, SYT17, TEKT5, THUMPD1, TMC5, TMC7, TMEM114, TMEM186, TNFRSF17, TNP2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TRT-CGT2-1, TUFM, TVP23A, TXNDC11, UBFD1, UBN1, UMOD, UQCRC2, USP31, USP7, USP7-AS1, VPS35L, VWA3A, XPO6, XYLT1, ZC3H7A, ZKSCAN2, ZKSCAN2-DT, ZNF500, ZP2, ABAT, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ALG1, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ATF7IP2, ATP2A1, ATP2A1-AS1, ATXN2L, BCAR4, BFAR, BMERB1, C16orf72, C16orf82, C16orf89, CACNG3, CARHSP1, CCP110, CD19, CDR2, CDR2-DT, CEP20, CHP2, CIITA, CLEC16A, CLEC19A, CLN3, COG7, COQ7, COQ7-DT, CPPED1, CRYM, CRYM-AS1, DCTN5, DCUN1D3, DEXI, DNAAF8, DNAH3, EARS2, EEF2K, EEF2KMT, EIF3C, EIF3CL, EMP2, ERCC4, ERI2, ERN2, GDE1, GGA2, GLYR1, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, IQCK, ITPRIPL2, KATNIP, KDM8, KNOP1, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LDAF1, LINC01177, LINC01195, LINC01290, LINC01567, LINC01570, LINC02129, LINC02130, LINC02152, LINC02164, LINC02175, LINC02177, LINC02185, LINC02186, LINC02191, LINC02194, LINC02195, LITAF, LITAFD, LOC100128079, LOC100130283, LOC100190986, LOC100288162, LOC100505915, LOC101927131, LOC101927814, LOC102723692, LOC105371083, LOC106799840, LOC107522031, LOC110121335, LOC111365165, LOC111365198, LOC111464986, LOC111562378, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184
See casesPathogenic
(Dec 30, 2009)
no assertion criteria providedVCV000144327
3.
GRCh37:
Chr16:12046324-15280056
GRCh38:
Chr16:11952467-15186199
See casesLikely pathogenic
(Jun 1, 2012)
no assertion criteria providedVCV000148522
4.
GRCh37:
Chr16:12061688-15256745
GRCh38:
Chr16:11967831-15162888
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058701
5.
GRCh37:
Chr16:14703504-18777139
GRCh38:
Chr16:14609647-18765817
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057619
6.
GRCh37:
Chr16:14732953-16525348
GRCh38:
Chr16:14639096-16431491
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057620
7.
GRCh37:
Chr16:14762039-16587070
GRCh38:
Chr16:14668182-16493213
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057621
8.
GRCh37:
Chr16:14762239-16194578
GRCh38:
Chr16:14668382-16100721
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057622
9.
GRCh37:
Chr16:14780135-16525348
GRCh38:
Chr16:14686278-16431491
See casesUncertain significance
(Jan 25, 2013)
no assertion criteria providedVCV000152077
10.
GRCh37:
Chr16:14809982-16477578
GRCh38:
Chr16:14716125-16383721
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000145996
11.
GRCh37:
Chr16:14811051-16602397
GRCh38:
Chr16:14717194-16508540
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057625
12.
GRCh37:
Chr16:14811051-16544699
GRCh38:
Chr16:14717194-16450842
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057624
13.
GRCh38:
Chr16:14757009-16763184
Autistic disorder of childhood onsetPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545185
14.
GRCh37:
Chr16:14866283-16533890
GRCh38:
Chr16:14772426-16440033
See casesUncertain significance
(May 7, 2013)
no assertion criteria providedVCV000153315
15.
GRCh37:
Chr16:14866284-16391910
GRCh38:
Chr16:14772427-16298053
See casesPathogenic
(Jun 4, 2013)
no assertion criteria providedVCV000153386
16.
GRCh38:
Chr16:14780667-16415941
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545186
17.
GRCh37:
Chr16:14877687-16525348
GRCh38:
Chr16:14783830-16431491
See casesUncertain significance
(Aug 22, 2014)
no assertion criteria providedVCV000155253
18.
GRCh37:
Chr16:14877687-18548248
GRCh38:
Chr16:14783830-18536926
See casesUncertain significance
(Dec 10, 2012)
no assertion criteria providedVCV000155076
19.
GRCh37:
Chr16:14877687-16525348
GRCh38:
Chr16:14783830-16431491
See casesUncertain significance
(Apr 5, 2012)
no assertion criteria providedVCV000152703
20.
GRCh37:
Chr16:14877687-16544758
GRCh38:
Chr16:14783830-16450901
See casesUncertain significance
(Feb 4, 2013)
no assertion criteria providedVCV000152128
21.
GRCh37:
Chr16:14877687-16292235
GRCh38:
Chr16:14783830-16198378
See casesPathogenic
(Jun 1, 2012)
no assertion criteria providedVCV000149520
22.
GRCh37:
Chr16:14877687-18779801
GRCh38:
Chr16:14783830-18768479
See casesUncertain significance
(Jun 1, 2012)
no assertion criteria providedVCV000149202
23.
GRCh37:
Chr16:14877687-16327945
GRCh38:
Chr16:14783830-16234088
See casesPathogenic
(Jan 16, 2012)
no assertion criteria providedVCV000149045
24.
GRCh37:
Chr16:14877687-16362707
GRCh38:
Chr16:14783830-16268850
See casesUncertain significance
(Sep 20, 2011)
no assertion criteria providedVCV000148735
25.
GRCh37:
Chr16:14877687-16847762
GRCh38:
Chr16:14783830-16753905
See casesUncertain significance
(Apr 4, 2013)
no assertion criteria providedVCV000148559
26.
GRCh37:
Chr16:14877687-18692057
GRCh38:
Chr16:14783830-18680735
See casesUncertain significance
(Oct 10, 2011)
no assertion criteria providedVCV000148469
27.
GRCh37:
Chr16:14877687-16561151
GRCh38:
Chr16:14783830-16467294
See casesUncertain significance
(Oct 10, 2011)
no assertion criteria providedVCV000148355
28.
GRCh37:
Chr16:14877687-16835162
GRCh38:
Chr16:14783830-16741305
See casesUncertain significance
(Nov 14, 2012)
no assertion criteria providedVCV000148334
29.
GRCh37:
Chr16:14888581-16498084
GRCh38:
Chr16:14794724-16404227
See casesUncertain significance
(Sep 23, 2013)
no assertion criteria providedVCV000155541
30.
GRCh37:
Chr16:14892880-16533890
GRCh38:
Chr16:14799023-16440033
See casesUncertain significance
(Sep 12, 2014)
no assertion criteria providedVCV000153650
31.
GRCh37:
Chr16:14893032-16544419
GRCh38:
Chr16:14799175-16450562
See casesUncertain significance
(Jun 23, 2014)
no assertion criteria providedVCV000153612
32.
GRCh37:
Chr16:14893729-16533890
GRCh38:
Chr16:14799872-16440033
See casesUncertain significance
(Mar 4, 2013)
no assertion criteria providedVCV000152188
33.
GRCh37:
Chr16:14896385-16330672
GRCh38:
Chr16:14802528-16236815
See casesPathogenic
(May 7, 2013)
no assertion criteria providedVCV000153310
34.
GRCh37:
Chr16:14897625-16494783
GRCh38:
Chr16:14803768-16400926
See casesPathogenic
(Mar 18, 2014)
no assertion criteria providedVCV000154289
35.
GRCh37:
Chr16:14897788-16508039
GRCh38:
Chr16:14803931-16414182
See casesPathogenic
(Apr 4, 2013)
no assertion criteria providedVCV000155029
36.
GRCh37:
Chr16:14897788-16293305
GRCh38:
Chr16:14803931-16199448
See casesUncertain significance
(Mar 10, 2014)
no assertion criteria providedVCV000154161
37.
GRCh37:
Chr16:14899676-16514111
GRCh38:
Chr16:14805819-16420254
See casesPathogenic
(Sep 27, 2013)
no assertion criteria providedVCV000153547
38.
GRCh37:
Chr16:14900131-16533890
GRCh38:
Chr16:14806274-16440033
See casesUncertain significance
(Aug 22, 2014)
no assertion criteria providedVCV000154272
39.
GRCh37:
Chr16:14900168-16533242
GRCh38:
Chr16:14806311-16439385
See casesUncertain significance
(Sep 27, 2013)
no assertion criteria providedVCV000152383
40.
GRCh37:
Chr16:14900182-16544018
GRCh38:
Chr16:14806325-16450161
See casesUncertain significance
(Sep 23, 2013)
no assertion criteria providedVCV000153841
41.
GRCh37:
Chr16:14910005-16525489
GRCh38:
Chr16:14816148-16431632
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057652
42.
GRCh37:
Chr16:14910005-16194719
GRCh38:
Chr16:14816148-16100862
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057626
43.
GRCh37:
Chr16:14910116-16525348
GRCh38:
Chr16:14816259-16431491
See casesPathogenic
(Jan 3, 2012)
no assertion criteria providedVCV000148975
44.
GRCh37:
Chr16:14910205-16525348
GRCh38:
Chr16:14816348-16431491
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160930
45.
GRCh37:
Chr16:14910205-16674321
GRCh38:
Chr16:14816348-16580464
See casesPathogenic
(May 6, 2011)
no assertion criteria providedVCV000160863
46.
GRCh37:
Chr16:14910205-16194578
GRCh38:
Chr16:14816348-16100721
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000160807
47.
GRCh37:
Chr16:14910205-16525348
GRCh38:
Chr16:14816348-16431491
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000160804
48.
GRCh37:
Chr16:14910205-16772370
GRCh38:
Chr16:14816348-16678513
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria providedVCV000154498
49.
GRCh37:
Chr16:14910205-16674321
GRCh38:
Chr16:14816348-16580464
See casesUncertain significance
(Mar 9, 2012)
no assertion criteria providedVCV000146212
50.
GRCh37:
Chr16:14910205-16242757
GRCh38:
Chr16:14816348-16148900
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057655
51.
GRCh37:
Chr16:14910205-15149015
GRCh38:
Chr16:14816348-15055158
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057537
52.
GRCh37:
Chr16:14910205-18669725
GRCh38:
Chr16:14816348-18658403
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057294
53.
GRCh37:
Chr16:14910205-18141051
GRCh38:
Chr16:14816348-18047194
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057168
54.
GRCh37:
Chr16:14910205-16194578
GRCh38:
Chr16:14816348-16100721
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria providedVCV000032961
55.
GRCh37:
Chr16:14910205-16525348
GRCh38:
Chr16:14816348-16431491
See casesUncertain significance
(Jul 5, 2011)
no assertion criteria providedVCV000032821
56.
GRCh37:
Chr16:14910205-16194578
GRCh38:
Chr16:14816348-16100721
See casesPathogenic
(Feb 14, 2018)
no assertion criteria providedVCV000032353
57.
GRCh37:
Chr16:14910205-16727421
GRCh38:
Chr16:14816348-16633564
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria providedVCV000032196
58.
GRCh37:
Chr16:14910213-16525374
GRCh38:
Chr16:14816356-16431517
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000154784
59.
GRCh37:
Chr16:14910213-16742194
GRCh38:
Chr16:14816356-16648337
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000154755
60.
GRCh37:
Chr16:14910213-15234462
GRCh38:
Chr16:14816356-15140605
See casesLikely benign
(Sep 21, 2012)
no assertion criteria providedVCV000150761
61.
GRCh37:
Chr16:14917806-18149685
GRCh38:
Chr16:14823949-18055828
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058704
62.
GRCh37:
Chr16:14917806-16375091
GRCh38:
Chr16:14823949-16281234
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057657
63.
GRCh37:
Chr16:14926043-16835162
GRCh38:
Chr16:14832186-16741305
See casesUncertain significance
(Jun 4, 2012)
no assertion criteria providedVCV000150622
64.
GRCh37:
Chr16:14944560-16305736
GRCh38:
Chr16:14850703-16211879
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057658
65.
GRCh37:
Chr16:14968655-16194719
GRCh38:
Chr16:14874798-16100862
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058705
66.
GRCh37:
Chr16:14968855-16127877
GRCh38:
Chr16:14874998-16034020
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000160961
67.
GRCh37:
Chr16:14968855-16194578
GRCh38:
Chr16:14874998-16100721
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000160949
68.
GRCh37:
Chr16:14968855-16127877
GRCh38:
Chr16:14874998-16034020
See casesPathogenic
(Aug 18, 2010)
no assertion criteria providedVCV000154376
69.
GRCh37:
Chr16:14968855-16194578
GRCh38:
Chr16:14874998-16100721
See casesUncertain significance
(Mar 30, 2010)
no assertion criteria providedVCV000034458
70.
GRCh37:
Chr16:15001513-16375091
GRCh38:
Chr16:14907656-16281234
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057660
71.
GRCh37:
Chr16:15001513-16300056
GRCh38:
Chr16:14907656-16206199
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057659
72.
GRCh37:
Chr16:15048551-16194719
GRCh38:
Chr16:14954694-16100862
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058721
73.
GRCh37:
Chr16:15048660-15116421
GRCh38:
Chr16:14954803-15022564
PDXDC1, MIR1972-1See casesLikely benign
(Sep 21, 2012)
no assertion criteria providedVCV000149406
74.
GRCh37:
Chr16:15048732-16194575
GRCh38:
Chr16:14954875-16100718
See casesUncertain significance
(May 30, 2010)
no assertion criteria providedVCV000144610
75.
GRCh37:
Chr16:15048751-16194578
GRCh38:
Chr16:14954894-16100721
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000160973
76.
GRCh37:
Chr16:15048751-16292235
GRCh38:
Chr16:14954894-16198378
See casesPathogenic
(May 3, 2012)
no assertion criteria providedVCV000150612
77.
GRCh37:
Chr16:15048751-15288499
GRCh38:
Chr16:14954894-15194642
PDXDC1, RRN3, NTAN1, MIR1972-1, MIR3180-4, LOC100505915, MIR6511B2, LOC112340377, LOC112340378See casesLikely benign
(Oct 24, 2012)
no assertion criteria providedVCV000148961
78.
GRCh37:
Chr16:15048751-28318164
GRCh38:
Chr16:14954894-28306843
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058085
79.
GRCh37:
Chr16:15048751-16194578
GRCh38:
Chr16:14954894-16100721
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000035173
80.
GRCh37:
Chr16:15048781-15116377
GRCh38:
Chr16:14954924-15022520
PDXDC1, MIR1972-1See casesBenign
(Mar 8, 2011)
no assertion criteria providedVCV000147163
81.
GRCh37:
Chr16:15048781-15073773
GRCh38:
Chr16:14954924-14979916
PDXDC1See casesBenign
(Mar 8, 2011)
no assertion criteria providedVCV000147050
82.
GRCh37:
Chr16:15049968-16295900
GRCh38:
Chr16:14956111-16202043
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000154123
83.
GRCh37:
Chr16:15098047
GRCh38:
Chr16:15004190
PDXDC1I55M, I54M, I67M, I81M, I82Mnot providedBenign
(Jun 7, 2017)
criteria provided, single submitterVCV000768753
84.
GRCh37:
Chr16:15102670
GRCh38:
Chr16:15008813
PDXDC1P114H, P177H, P190H, P204H, P205H, P178Hnot providedBenign
(Aug 3, 2017)
criteria provided, single submitterVCV000790700
85.
GRCh37:
Chr16:15110077
GRCh38:
Chr16:15016220
PDXDC1not providedBenign
(Jun 7, 2017)
criteria provided, single submitterVCV000768754
86.
GRCh38:
Chr16:15029830-16415941
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545187
87.
GRCh38:
Chr16:15030738-16517711
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545188
88.
GRCh37:
Chr16:15126744
GRCh38:
Chr16:15032887
PDXDC1S442N, S505N, S532N, S533N, S506N, S518Nnot providedBenign
(Aug 3, 2017)
criteria provided, single submitterVCV000790701
89.
GRCh37:
Chr16:15127985-16521102
GRCh38:
Chr16:15034128-16427245
See casesUncertain significance
(Jul 18, 2014)
no assertion criteria providedVCV000153858
90.
GRCh37:
Chr16:15144120-18306854
GRCh38:
Chr16:15050263-18212997
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057661
91.
GRCh37:
Chr16:15154687-18546759
GRCh38:
Chr16:15060830-18535437
See casesPathogenic
(Oct 14, 2010)
no assertion criteria providedVCV000147644
92.
GRCh37:
Chr16:15154687-18306854
GRCh38:
Chr16:15060830-18212997
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000059270
93.
GRCh37:
Chr16:15154898-15499057
GRCh38:
Chr16:15061041-15405200
PDXDC1, RRN3, MPV17L, NPIPA5, MIR3180-4, LOC100505915, MIR6511B2, LOC112340378Preeclampsianot providedno assertion providedVCV000157357
94.
GRCh38:
Chr16:15085515-18775195
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545189
95.
GRCh37:
Chr16:15185186
GRCh38:
Chr16:15091329
PDXDC1, RRN3D80Nnot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000775037
96.
GRCh37:
Chr16:15188028
GRCh38:
Chr16:15094171
PDXDC1, RRN3not providedLikely benign
(Aug 16, 2018)
criteria provided, single submitterVCV000728888
97.
GRCh37:
Chr16:15222070-18588843
GRCh38:
Chr16:15128213-18577521
See casesUncertain significance
(Dec 3, 2012)
no assertion criteria providedVCV000151962
98.
GRCh37:
Chr16:15234433-18669725
GRCh38:
Chr16:15140576-18658403
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057368
99.
GRCh37:
Chr16:14887031-16308753
not providedPathogenic
(Jun 21, 2019)
criteria provided, single submitterVCV001180507
100.
GRCh37:
Chr16:15124782-16291779
not providedPathogenic
(May 13, 2020)
criteria provided, single submitterVCV001180506
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