| - GRCh37:
- Chr16:4694893-29182141
- GRCh38:
- Chr16:4644892-29170820
| ABAT, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ALG1, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ATF7IP2, ATP2A1, ATP2A1-AS1, ATXN2L, BCAR4, BFAR, BMERB1, 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, HAPSTR1, 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, LOC101927026, LOC101927131, LOC101927227, LOC101927814, LOC102723692, LOC105371083, LOC106799840, LOC107522031, LOC110121335, LOC111365165, LOC111365198, LOC111464986, LOC111562378, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, 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, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121587532, LOC121587533, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847969, LOC121847970, LOC121847971, LOC121847972, LOC121847973, LOC121847974, LOC121847975, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC125146416, LOC125146417, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC125146423, LOC125146424, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC126862289, LOC126862290, LOC126862291, LOC126862292, LOC126862293, LOC126862294, LOC126862295, LOC126862296, LOC126862297, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, LOC126862306, LOC126862307, LOC126862308, LOC126862309, LOC126862310, LOC126862311, LOC126862312, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, 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, MPV17L-BMERB1, MRTFB, MYH11, NAGPA, NAGPA-AS1, NDE1, NDUFAB1, NFATC2IP, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, 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 | | See cases | Pathogenic (Dec 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr16:14703504-18777139
- GRCh38:
- Chr16:14609647-18765817
| ABCC1, ABCC6, BFAR, BMERB1, CEP20, LOC100288162, LOC100505915, LOC102723692, LOC111365165, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6770-1, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, NTAN1, PARN, PDXDC1, PLA2G10, RRN3, XYLT1 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14732953-16525348
- GRCh38:
- Chr16:14639096-16431491
| ABCC1, ABCC6, BFAR, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NTAN1, PDXDC1, PLA2G10, RRN3 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr16:14683149-16205174
| ABCC6, NDE1, NOMO1, NPIPA2, NPIPA3, NPIPA5, LOC100288162, NPIPA1, BMERB1, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC100505915, LOC112340377, LOC112340378, CEP20, ABCC1, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NTAN1, PDXDC1, PLA2G10, RRN3 | | not specified | Uncertain significance | criteria provided, single submitter |
| - GRCh38:
- Chr16:14683149-16536956
| MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, NPIPA2, MIR6506, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC100288162, ABCC1, ABCC6, BMERB1, CEP20, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA3, NPIPA5, NPIPA7, NTAN1, PDXDC1, PLA2G10, RRN3 | | 16p13.11 recurrent microdeletion syndrome | Likely pathogenic (Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14780135-16525348
- GRCh38:
- Chr16:14686278-16431491
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NTAN1, PDXDC1, PLA2G10, RRN3 | | See cases | Uncertain significance (Jan 25, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14809982-16477578
- GRCh38:
- Chr16:14716125-16383721
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:14811051-16602397
- GRCh38:
- Chr16:14717194-16508540
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14811051-16544699
- GRCh38:
- Chr16:14717194-16450842
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr16:14757009-16763184
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | Autism | Pathogenic (Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14866283-16533890
- GRCh38:
- Chr16:14772426-16440033
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (May 7, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14866284-16391910
- GRCh38:
- Chr16:14772427-16298053
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Jun 4, 2013) | no assertion criteria provided |
| - GRCh38:
- Chr16:14780667-16415941
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | Schizophrenia | Pathogenic (Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14877687-16525348
- GRCh38:
- Chr16:14783830-16431491
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Aug 22, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-18548248
- GRCh38:
- Chr16:14783830-18536926
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC102723692, LOC111365165, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6770-1, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA5, NPIPA7, NPIPA8, NPIPA9, NTAN1, PDXDC1, RRN3, XYLT1 | | See cases | Uncertain significance (Dec 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-16525348
- GRCh38:
- Chr16:14783830-16431491
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Apr 5, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-16544758
- GRCh38:
- Chr16:14783830-16450901
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Feb 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-16292235
- GRCh38:
- Chr16:14783830-16198378
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Jun 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-18779801
- GRCh38:
- Chr16:14783830-18768479
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC102723692, LOC111365165, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6770-1, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA5, NPIPA7, NPIPA8, NPIPA9, NTAN1, PDXDC1, RRN3, XYLT1 | | See cases | Uncertain significance (Jun 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-16327945
- GRCh38:
- Chr16:14783830-16234088
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Jan 16, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-16362707
- GRCh38:
- Chr16:14783830-16268850
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Sep 20, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-16847762
- GRCh38:
- Chr16:14783830-16753905
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Apr 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-18692057
- GRCh38:
- Chr16:14783830-18680735
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC102723692, LOC111365165, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6770-1, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA5, NPIPA7, NPIPA8, NPIPA9, NTAN1, PDXDC1, RRN3, XYLT1 | | See cases | Uncertain significance (Oct 10, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-16561151
- GRCh38:
- Chr16:14783830-16467294
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Oct 10, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:14877687-16835162
- GRCh38:
- Chr16:14783830-16741305
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Nov 14, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14888581-16498084
- GRCh38:
- Chr16:14794724-16404227
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Sep 23, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14892880-16533890
- GRCh38:
- Chr16:14799023-16440033
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Sep 12, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:14893032-16544419
- GRCh38:
- Chr16:14799175-16450562
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Jun 23, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:14893729-16533890
- GRCh38:
- Chr16:14799872-16440033
| LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3, ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378 | | See cases | Uncertain significance (Mar 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14896385-16330672
- GRCh38:
- Chr16:14802528-16236815
| LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3, ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421 | | See cases | Pathogenic (May 7, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14897625-16494783
- GRCh38:
- Chr16:14803768-16400926
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:14897788-16508039
- GRCh38:
- Chr16:14803931-16414182
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Apr 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14897788-16293305
- GRCh38:
- Chr16:14803931-16199448
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Mar 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:14899676-16514111
- GRCh38:
- Chr16:14805819-16420254
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14900131-16533890
- GRCh38:
- Chr16:14806274-16440033
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Aug 22, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:14900168-16533242
- GRCh38:
- Chr16:14806311-16439385
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14900182-16544018
- GRCh38:
- Chr16:14806325-16450161
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Sep 23, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:14910116-16525348
- GRCh38:
- Chr16:14816259-16431491
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Jan 3, 2012) | no assertion criteria provided |
| - GRCh38:
- Chr16:14816348-16678513
| MIR3179-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR3670-1, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-2, ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | Anomalous pulmonary venous return | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr16:14910205-16525348
- GRCh38:
- Chr16:14816348-16431491
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:14910205-16674321
- GRCh38:
- Chr16:14816348-16580464
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (May 6, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:14910205-16525348
- GRCh38:
- Chr16:14816348-16431491
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14910205-16772370
- GRCh38:
- Chr16:14816348-16678513
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:14910205-16674321
- GRCh38:
- Chr16:14816348-16580464
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Mar 9, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14910205-18669725
- GRCh38:
- Chr16:14816348-18658403
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC102723692, LOC111365165, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6770-1, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA5, NPIPA7, NPIPA8, NPIPA9, NTAN1, PDXDC1, RRN3, XYLT1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14910205-18141051
- GRCh38:
- Chr16:14816348-18047194
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC102723692, LOC111365165, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3, XYLT1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14910205-16525348
- GRCh38:
- Chr16:14816348-16431491
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Jul 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:14910205-16727421
- GRCh38:
- Chr16:14816348-16633564
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:14910213-16525374
- GRCh38:
- Chr16:14816356-16431517
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14910213-16742194
- GRCh38:
- Chr16:14816356-16648337
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14917806-18149685
- GRCh38:
- Chr16:14823949-18055828
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC102723692, LOC111365165, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3, XYLT1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14917806-16375091
- GRCh38:
- Chr16:14823949-16281234
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:14926043-16835162
- GRCh38:
- Chr16:14832186-16741305
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Jun 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:14944560-16305736
- GRCh38:
- Chr16:14850703-16211879
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15001513-16375091
- GRCh38:
- Chr16:14907656-16281234
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15001513-16300056
- GRCh38:
- Chr16:14907656-16206199
| ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15048751-16292235
- GRCh38:
- Chr16:14954894-16198378
| ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3180-4, MIR484, MIR6506, MIR6511B2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (May 3, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:15048751-28318164
- GRCh38:
- Chr16:14954894-28306843
| ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ANKS4B, AQP8, ARHGAP17, ARL6IP1, BMERB1, C16orf82, CACNG3, CCP110, CDR2, CDR2-DT, CEP20, CHP2, CLEC19A, COG7, COQ7, COQ7-DT, CRYM, CRYM-AS1, DCTN5, DCUN1D3, DNAH3, EARS2, EEF2K, ERI2, ERN2, GDE1, GGA2, GP2, GPR139, GPRC5B, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL4R, IQCK, ITPRIPL2, KATNIP, KDM8, KNOP1, LCMT1, LCMT1-AS1, LCMT1-AS2, LDAF1, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LOC100128079, LOC100190986, LOC100505915, LOC101927814, LOC102723692, LOC111365165, LOC111365198, LOC111562378, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC112340389, LOC112340390, LOC112340391, LOC113939949, LOC116276449, LOC116276450, LOC116276451, LOC121587532, LOC121587533, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847972, LOC121847973, LOC121847974, LOC121847975, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC125146423, LOC125146424, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, LOC126862306, LOC126862307, LOC126862308, LOC126862309, LOC126862310, LOC126862311, LOC126862312, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LYRM1, MARF1, METTL9, MIR1273H, MIR1972-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3180-4, MIR3670-2, MIR3670-3, MIR3670-4, MIR3680-1, MIR484, MIR548W, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6770-2, MIR6770-3, MOSMO, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NDUFAB1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, NPIPB3, NPIPB4, NPIPB5, NSMCE1, NSMCE1-DT, NTAN1, OTOA, PALB2, PDILT, PDXDC1, PDZD9, PLK1, POLR3E, PRKCB, RBBP6, REXO5, RPS15A, RRN3, SBK1, SCNN1B, SCNN1G, SDR42E2, SLC5A11, SMG1, SYT17, THUMPD1, TMC5, TMC7, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, UBFD1, UMOD, UQCRC2, USP31, VPS35L, VWA3A, XPO6, XYLT1, ZKSCAN2, ZKSCAN2-DT, ZP2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15049968-16295900
- GRCh38:
- Chr16:14956111-16202043
| ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR1972-1, MIR3180-4, MIR484, MIR6506, MIR6511B2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NPIPA5, NTAN1, PDXDC1, RRN3 | | See cases | Pathogenic (Mar 10, 2014) | no assertion criteria provided |
| - GRCh38:
- Chr16:15029830-16415941
| ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR3179-2, MIR3180-2, MIR3180-4, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | Schizophrenia | Pathogenic (Mar 20, 2018) | criteria provided, single submitter |
| - GRCh38:
- Chr16:15030738-16517711
| ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR3179-2, MIR3180-2, MIR3180-4, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | Schizophrenia | Pathogenic (Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15127985-16521102
- GRCh38:
- Chr16:15034128-16427245
| ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR3179-2, MIR3180-2, MIR3180-4, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 | | See cases | Uncertain significance (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:15144120-18306854
- GRCh38:
- Chr16:15050263-18212997
| ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC102723692, LOC111365165, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3180-4, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3, XYLT1 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15154687-18546759
- GRCh38:
- Chr16:15060830-18535437
| ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC102723692, LOC111365165, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3180-4, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, PDXDC1, RRN3, XYLT1 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:15154687-18306854
- GRCh38:
- Chr16:15060830-18212997
| ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC102723692, LOC111365165, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3180-4, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, PDXDC1, RRN3, XYLT1 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr16:15085515-18775195
| ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC102723692, LOC111365165, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3180-4, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, PDXDC1, RRN3, XYLT1 | | Schizophrenia | Pathogenic (Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15222070-18588843
- GRCh38:
- Chr16:15128213-18577521
| MIR3180-3, MIR3180-4, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, PDXDC1, XYLT1, ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2 | | See cases | Uncertain significance (Dec 3, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:15234433-18669725
- GRCh38:
- Chr16:15140576-18658403
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3180-4, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, PDXDC1, XYLT1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15278668-18546741
- GRCh38:
- Chr16:15184811-18535419
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, XYLT1 | | See cases | Uncertain significance (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:15279997-18162167
- GRCh38:
- Chr16:15186140-18068310
| MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, XYLT1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2 | | See cases | Uncertain significance (Apr 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:15279997-18779801
- GRCh38:
- Chr16:15186140-18768479
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, XYLT1 | | See cases | Uncertain significance (Jul 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:15279997-18794505
- GRCh38:
- Chr16:15186140-18783183
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, RPS15A, XYLT1 | | See cases | Uncertain significance (Aug 26, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:15279997-18669725
- GRCh38:
- Chr16:15186140-18658403
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, XYLT1 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:15279997-18631981
- GRCh38:
- Chr16:15186140-18620659
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, XYLT1 | | See cases | Uncertain significance (Jan 27, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:15281187-16375091
- GRCh38:
- Chr16:15187330-16281234
| ABCC1, ABCC6, BMERB1, CEP20, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR484, MIR6506, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15288440-18330266
- GRCh38:
- Chr16:15194583-18236409
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, XYLT1 | | See cases | Likely pathogenic (Dec 2, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:15288440-18738020
- GRCh38:
- Chr16:15194583-18726698
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, XYLT1 | | See cases | Uncertain significance (Jun 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:15288440-18264280
- GRCh38:
- Chr16:15194583-18170423
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, XYLT1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7 | | See cases | Uncertain significance (May 6, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:15288440-18307873
- GRCh38:
- Chr16:15194583-18214016
| LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, XYLT1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972 | | See cases | Uncertain significance (Jun 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:15312409-18242713
- GRCh38:
- Chr16:15218552-18148856
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, XYLT1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7 | | See cases | Uncertain significance (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:15316713-18242713
- GRCh38:
- Chr16:15222856-18148856
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, XYLT1 | | See cases | Uncertain significance (Mar 31, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr16:15316909-18242713
- GRCh38:
- Chr16:15223052-18148856
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, XYLT1 | | See cases | Uncertain significance (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:15355329-18779801
- GRCh38:
- Chr16:15261472-18768479
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, XYLT1 | | See cases | Uncertain significance (Apr 27, 2011) | no assertion criteria provided |
| - GRCh38:
- Chr16:15279737-18291544
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, XYLT1 | | Schizophrenia | Pathogenic (Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15392894-18361750
- GRCh38:
- Chr16:15299037-18267893
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, XYLT1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15404452-18306854
- GRCh38:
- Chr16:15310595-18212997
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, XYLT1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15404452-18306854
- GRCh38:
- Chr16:15310595-18212997
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, XYLT1 | | See cases | Pathogenic (Aug 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:15404452-18631981
- GRCh38:
- Chr16:15310595-18620659
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, XYLT1 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:15404452-18306854
- GRCh38:
- Chr16:15310595-18212997
| ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, XYLT1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7 | | See cases | Uncertain significance (Aug 5, 2011) | no assertion criteria provided |
| - GRCh38:
- Chr16:15318125-16294378
| |