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Items: 1 to 100 of 1012

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
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 casesPathogenic
(Dec 30, 2009)		no assertion criteria provided
2.
GRCh37:
Chr16:21361943-29214158
GRCh38:
Chr16:21350622-29202837
APOBR, AQP8, ARHGAP17, ATP2A1, ATP2A1-AS1, ATXN2L, C16orf82, CACNG3, CD19, CDR2, CDR2-DT, CHP2, CLN3, COG7, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LOC100128079, LOC100190986, LOC101927814, LOC108281183, LOC111365198, LOC111562378, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC116276449, LOC116276450, LOC116276451, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847975, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, METTL9, MIR1273H, MIR3680-1, MIR4517, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MOSMO, NDUFAB1, NFATC2IP, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2, ZKSCAN2-DT
See casesLikely pathogenic
(Dec 10, 2012)		no assertion criteria provided
3.
GRCh37:
Chr16:21475060-29260900
GRCh38:
Chr16:21463739-29249579
APOBR, AQP8, ARHGAP17, ATP2A1, ATP2A1-AS1, ATXN2L, C16orf82, CACNG3, CD19, CDR2, CDR2-DT, CHP2, CLN3, COG7, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LOC100128079, LOC101927814, LOC101928188, LOC108281183, LOC111365198, LOC111562378, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC116276449, LOC116276450, LOC116276451, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847975, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, METTL9, MIR1273H, MIR3680-1, MIR4517, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MOSMO, NDUFAB1, NFATC2IP, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2, ZKSCAN2-DT
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
4.
GRCh37:
Chr16:21613504-29325694
GRCh38:
Chr16:21602183-29314373
LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, METTL9, MIR1273H, MIR4517, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MOSMO, NDUFAB1, NFATC2IP, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2, ZKSCAN2-DT, APOBR, AQP8, ARHGAP17, ATP2A1, ATP2A1-AS1, ATXN2L, C16orf82, CACNG3, CD19, CDR2, CDR2-DT, CHP2, CLN3, COG7, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LOC100128079, LOC101928188, LOC108281183, LOC111365198, LOC111562378, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC116276449, LOC116276450, LOC116276451, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847975, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
5.
GRCh37:
Chr16:22645706-29238644
GRCh38:
Chr16:22634385-29227323
APOBR, AQP8, ARHGAP17, ATP2A1, ATP2A1-AS1, ATXN2L, C16orf82, CACNG3, CD19, CHP2, CLN3, COG7, DCTN5, EARS2, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IL21R, IL21R-AS1, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LOC100128079, LOC101928188, LOC108281183, LOC111365198, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC116276449, LOC116276450, LOC116276451, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847975, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, MIR1273H, MIR4517, MIR4721, MIR548W, MIR6862-1, MIR6862-2, NDUFAB1, NFATC2IP, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, PALB2, PLK1, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TUFM, UBFD1, USP31, XPO6, ZKSCAN2, ZKSCAN2-DT
See casesLikely pathogenic
(Jan 27, 2011)		no assertion criteria provided
6.
GRCh37:
Chr16:23059290-30643566
GRCh38:
Chr16:23047969-30632245
ALDOA, APOBR, AQP8, ARHGAP17, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf82, C16orf92, CACNG3, CD19, CD2BP2, CD2BP2-DT, CDIPT, CDIPTOSP, CHP2, CLN3, COG7, CORO1A, CORO1A-AS1, DCTN5, DCTPP1, DOC2A, EARS2, EIF3C, EIF3CL, ERN2, GDPD3, GGA2, GSG1L, GTF3C1, HIRIP3, HS3ST4, IL21R, IL21R-AS1, IL27, IL4R, INO80E, ITGAL, KATNIP, KCTD13, KDM8, KIF22, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02191, LINC02194, LINC02195, LOC100128079, LOC101928188, LOC108281183, LOC111365198, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112352681, LOC112441444, LOC112441445, LOC112694756, LOC116276449, LOC116276450, LOC116276451, LOC116276452, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121587540, LOC121587541, LOC121847975, LOC121847976, LOC121847977, LOC121847978, LOC121847979, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC125146442, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC128462412, MAPK3, MAZ, MIR1273H, MIR3680-2, MIR4517, MIR4518, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MVP, MVP-DT, MYL11, NDUFAB1, NFATC2IP, NPIPB11, NPIPB12, NPIPB13, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, PAGR1, PALB2, PLK1, PPP4C, PRKCB, PRRT2, QPRT, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SEPHS2, SEPTIN1, SEZ6L2, SGF29, SH2B1, SLC5A11, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNORA80C, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBC1D10B, TBX6, TLCD3B, TMEM219, TNRC6A, TUFM, UBFD1, USP31, XPO6, YPEL3, YPEL3-DT, ZG16, ZKSCAN2, ZKSCAN2-DT, ZNF48, ZNF688, ZNF689, ZNF747, ZNF747-DT, ZNF764, ZNF768, ZNF771, ZNF785
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
7.
GRCh37:
Chr16:23763368-31955076
GRCh38:
Chr16:23752047-31943755
AHSP, ALDOA, APOBR, AQP8, ARHGAP17, ARMC5, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BCKDK, BCL7C, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf82, C16orf92, CACNG3, CD19, CD2BP2, CD2BP2-DT, CDIPT, CDIPTOSP, CFAP119, CHP2, CLN3, CORO1A, CORO1A-AS1, COX6A2, CTF1, DCTPP1, DOC2A, EIF3C, EIF3CL, FBRS, FBXL19, FBXL19-AS1, FUS, GDPD3, GSG1L, GTF3C1, HIRIP3, HS3ST4, HSD3B7, IL21R, IL21R-AS1, IL27, IL4R, INO80E, ITGAD, ITGAL, ITGAM, ITGAX, KAT8, KATNIP, KCTD13, KDM8, KIF22, KRBOX5, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LINC01567, LINC02129, LINC02175, LINC02190, LINC02191, LINC02194, LINC02195, LOC100128079, LOC101928188, LOC107983990, LOC108281183, LOC111365198, LOC112340391, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112352681, LOC112441444, LOC112441445, LOC112441446, LOC112441447, LOC112694756, LOC116276449, LOC116276450, LOC116276451, LOC116276452, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121587540, LOC121587541, LOC121587542, LOC121587543, LOC121847975, LOC121847976, LOC121847977, LOC121847978, LOC121847979, LOC121847980, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC125146442, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC126862329, LOC126862330, LOC126862331, LOC126862332, LOC126862333, LOC126862334, LOC126862335, LOC128462412, LOC730183, MAPK3, MAZ, MIR1273H, MIR3680-2, MIR4517, MIR4518, MIR4519, MIR4721, MIR548W, MIR6862-1, MIR6862-2, MIR762, MIR762HG, MVP, MVP-DT, MYL11, NFATC2IP, NPIPB11, NPIPB12, NPIPB13, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NUPR1, ORAI3, PAGR1, PHKG2, PPP4C, PRKCB, PRR14, PRRT2, PRSS36, PRSS53, PRSS8, PYCARD, PYCARD-AS1, PYDC1, QPRT, RABEP2, RBBP6, RNF40, RUSF1, SBK1, SEPHS2, SEPTIN1, SETD1A, SEZ6L2, SGF29, SH2B1, SLC5A11, SLC5A2, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNORA30, SNORA80C, SPN, SPNS1, SRCAP, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBC1D10B, TBX6, TGFB1I1, TLCD3B, TMEM219, TMEM265, TNRC6A, TRIM72, TUFM, VKORC1, VN1R3, XPO6, YPEL3, YPEL3-DT, ZG16, ZKSCAN2, ZKSCAN2-DT, ZNF267, ZNF48, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF747-DT, ZNF764, ZNF768, ZNF771, ZNF785, ZNF843
See casesPathogenic
(Apr 30, 2011)		no assertion criteria provided
8.
GRCh37:
Chr16:27323067-31204727
GRCh38:
Chr16:27311746-31193406
ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BCKDK, BCL7C, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf92, CD19, CD2BP2, CD2BP2-DT, CDIPT, CDIPTOSP, CFAP119, CLN3, CORO1A, CORO1A-AS1, CTF1, DCTPP1, DOC2A, EIF3C, EIF3CL, FBRS, FBXL19, FBXL19-AS1, FUS, GDPD3, GSG1L, GTF3C1, HIRIP3, HSD3B7, IL21R, IL21R-AS1, IL27, IL4R, INO80E, ITGAL, KAT8, KATNIP, KCTD13, KIF22, LAT, LOC100128079, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112352681, LOC112441444, LOC112441445, LOC112441446, LOC112694756, LOC116276452, LOC121587538, LOC121587539, LOC121587540, LOC121587541, LOC121587542, LOC121587543, LOC121847976, LOC121847977, LOC121847978, LOC121847979, LOC125146435, LOC125146436, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC125146442, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC126862328, LOC126862329, LOC126862330, LOC128462412, LOC730183, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4518, MIR4519, MIR4721, MIR6862-1, MIR6862-2, MIR762, MIR762HG, MVP, MVP-DT, MYL11, NFATC2IP, NPIPB11, NPIPB12, NPIPB13, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, ORAI3, PAGR1, PHKG2, PPP4C, PRR14, PRRT2, PRSS36, PRSS53, PRSS8, QPRT, RABEP2, RNF40, SBK1, SEPHS2, SEPTIN1, SETD1A, SEZ6L2, SGF29, SH2B1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNORA30, SNORA80C, SPN, SPNS1, SRCAP, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBC1D10B, TBX6, TLCD3B, TMEM219, TMEM265, TUFM, VKORC1, XPO6, YPEL3, YPEL3-DT, ZG16, ZNF48, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF747-DT, ZNF764, ZNF768, ZNF771, ZNF785
See casesPathogenic
(Apr 30, 2011)		no assertion criteria provided
9.
GRCh37:
Chr16:28072633-28595696
GRCh38:
Chr16:28061312-28584375
APOBR, CLN3, EIF3CL, GSG1L, IL27, LOC125146435, LOC125146436, LOC126862326, MIR6862-1, NPIPB6, NPIPB7, NUPR1, SBK1, SGF29, XPO6
See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
10.
GRCh37:
Chr16:28305124-29542974
GRCh38:
Chr16:28293803-29531653
APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NPIPB11, NPIPB12, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SBK1, SGF29, SH2B1, SLX1B, SLX1B-SULT1A4, SPNS1, SULT1A1, SULT1A2, SULT1A4, TUFM
See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
11.
GRCh37:
Chr16:28331687-29426399
GRCh38:
Chr16:28320366-29415078
APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NPIPB11, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SBK1, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM
See casesUncertain significance
(Mar 24, 2014)		no assertion criteria provided
12.
GRCh37:
Chr16:28338667-29353391
GRCh38:
Chr16:28327346-29342070
APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM
See casesPathogenic
(Jan 13, 2012)		no assertion criteria provided
13.
GRCh38:
Chr16:28351819-29325073
APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM
SchizophreniaPathogenic
(Mar 20, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr16:28377432-30194753
GRCh38:
Chr16:28366111-30183432
ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, C16orf54, C16orf92, CD19, CDIPT, CDIPTOSP, CLN3, CORO1A-AS1, DOC2A, EIF3C, EIF3CL, GDPD3, HIRIP3, IL27, INO80E, KCTD13, KIF22, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC126862326, LOC126862327, LOC126862328, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4721, MIR6862-1, MIR6862-2, MVP, MVP-DT, NFATC2IP, NPIPB11, NPIPB12, NPIPB7, NPIPB8, NPIPB9, NUPR1, PAGR1, PPP4C, PRRT2, QPRT, RABEP2, SEZ6L2, SGF29, SH2B1, SLX1B, SLX1B-SULT1A4, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, TUFM, YPEL3, YPEL3-DT, ZG16
See casesPathogenic
(Feb 5, 2018)		no assertion criteria provided
15.
GRCh37:
Chr16:28403347-29182200
GRCh38:
Chr16:28392026-29170879
APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC112340392, LOC112340393, LOC125146437, LOC126862326, LOC126862327, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM
See casesUncertain significance
(Sep 21, 2012)		no assertion criteria provided
16.
GRCh37:
Chr16:28404153-29182196
GRCh38:
Chr16:28392832-29170875
APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC112340392, LOC112340393, LOC125146437, LOC126862326, LOC126862327, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM
See casesPathogenic
(Jan 9, 2013)		no assertion criteria provided
17.
GRCh37:
Chr16:28404153-30332014
GRCh38:
Chr16:28392832-30320693
ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf92, CD19, CDIPT, CDIPTOSP, CLN3, CORO1A, CORO1A-AS1, DOC2A, EIF3C, EIF3CL, GDPD3, HIRIP3, IL27, INO80E, KCTD13, KIF22, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC126862326, LOC126862327, LOC126862328, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4721, MIR6862-2, MVP, MVP-DT, NFATC2IP, NPIPB11, NPIPB12, NPIPB13, NPIPB7, NPIPB8, NPIPB9, NUPR1, PAGR1, PPP4C, PRRT2, QPRT, RABEP2, SEZ6L2, SGF29, SH2B1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, TUFM, YPEL3, YPEL3-DT, ZG16
See casesPathogenic
(Nov 14, 2012)		no assertion criteria provided
18.
GRCh37:
Chr16:28404153-29331350
GRCh38:
Chr16:28392832-29320029
APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM
See casesPathogenic
(Nov 4, 2011)		no assertion criteria provided
19.
GRCh37:
Chr16:28404153-29353391
GRCh38:
Chr16:28392832-29342070
APOBR, ATP2A1, ATP2A1-AS1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC125146437, LOC125146438, LOC126862326, LOC126862327, LOC126862328, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NPIPB7, NPIPB8, NPIPB9, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM
See casesPathogenic
(Nov 11, 2011)		no assertion criteria provided
20.
GRCh37:
Chr16:28404153-30197341
GRCh38:
Chr16:28392832-30186020
ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, C16orf54, C16orf92, CD19, CDIPT, CDIPTOSP, CLN3, CORO1A, CORO1A-AS1, DOC2A, EIF3C, EIF3CL, GDPD3, HIRIP3, IL27, INO80E, KCTD13, KIF22, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC126862326, LOC126862327, LOC126862328, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4721, MIR6862-2, MVP, MVP-DT, NFATC2IP, NPIPB11, NPIPB12, NPIPB7, NPIPB8, NPIPB9, NUPR1, PAGR1, PPP4C, PRRT2, QPRT, RABEP2, SEZ6L2, SGF29, SH2B1, SLX1B, SLX1B-SULT1A4, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, TUFM, YPEL3, YPEL3-DT, ZG16
See casesPathogenic
(Oct 26, 2011)		no assertion criteria provided
21.
GRCh37:
Chr16:28468288-30306428
GRCh38:
Chr16:28456967-30295107
ALDOA, APOBR, ASPHD1, ATP2A1, ATP2A1-AS1, ATXN2L, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf92, CD19, CDIPT, CDIPTOSP, CLN3, CORO1A, CORO1A-AS1, DOC2A, EIF3C, GDPD3, HIRIP3, IL27, INO80E, KCTD13, KIF22, LAT, LOC101928188, LOC108281183, LOC112340392, LOC112340393, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146437, LOC125146438, LOC125146439, LOC125146440, LOC125146441, LOC126862326, LOC126862327, LOC126862328, MAPK3, MAZ, MIR3680-2, MIR4517, MIR4721, MIR6862-2, MVP, MVP-DT, NFATC2IP, NPIPB11, NPIPB12, NPIPB13, NPIPB7, NPIPB8, NPIPB9, NUPR1, PAGR1, PPP4C, PRRT2, QPRT, RABEP2, SEZ6L2, SGF29, SH2B1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SPN, SPNS1, SULT1A1, SULT1A2, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, TUFM, YPEL3, YPEL3-DT, ZG16
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
22.
GRCh37:
Chr16:28486664-28489218
GRCh38:
Chr16:28475343-28477897
CLN3Neuronal ceroid lipofuscinosisUncertain significance
(Jul 24, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr16:28486664-28503100
GRCh38:
Chr16:28475343-28491779
CLN3Neuronal ceroid lipofuscinosisUncertain significance
(Sep 12, 2019)		criteria provided, single submitter
24.
GRCh37:
Chr16:28488632
GRCh38:
Chr16:28477311
CLN3Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr16:28488637
GRCh38:
Chr16:28477316
CLN3Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr16:28488650
GRCh38:
Chr16:28477329
CLN3Neuronal ceroid lipofuscinosis 3Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr16:28488682
GRCh38:
Chr16:28477361
CLN3not provided, Neuronal ceroid lipofuscinosis 3Likely benign
(Jun 23, 2018)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr16:28488726
GRCh38:
Chr16:28477405
CLN3Neuronal ceroid lipofuscinosis 3Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
29.
GRCh37:
Chr16:28488738
GRCh38:
Chr16:28477417
CLN3Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, not provided, Neuronal ceroid lipofuscinosis 3
Conflicting interpretations of pathogenicity
(Jul 8, 2018)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr16:28488759
GRCh38:
Chr16:28477438
CLN3Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr16:28488779
GRCh38:
Chr16:28477458
CLN3Neuronal ceroid lipofuscinosis 3Uncertain significance
(Mar 23, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr16:28488782
GRCh38:
Chr16:28477461
CLN3Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr16:28488808
GRCh38:
Chr16:28477487
CLN3Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Neuronal ceroid lipofuscinosis 3Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr16:28488817-28489218
GRCh38:
Chr16:28477496-28477897
CLN3Neuronal ceroid lipofuscinosisUncertain significance
(Oct 24, 2019)		criteria provided, single submitter
35.
GRCh37:
Chr16:28488838
GRCh38:
Chr16:28477517
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Mar 30, 2020)		criteria provided, single submitter
36.
GRCh37:
Chr16:28488845
GRCh38:
Chr16:28477524
CLN3L437F, L359F, L413F, L383F, L337Fnot providedUncertain significance
(Apr 17, 2017)		criteria provided, single submitter
37.
GRCh37:
Chr16:28488849
GRCh38:
Chr16:28477528
CLN3C411W, C357W, C435W, C335W, C381WInborn genetic diseases, Neuronal ceroid lipofuscinosisUncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr16:28488852
GRCh38:
Chr16:28477531
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Nov 6, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr16:28488863
GRCh38:
Chr16:28477542
CLN3H431Y, H377Y, H407Y, H331Y, H353YNeuronal ceroid lipofuscinosisUncertain significance
(Aug 28, 2021)		criteria provided, single submitter
40.
GRCh37:
Chr16:28488866
GRCh38:
Chr16:28477545
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Jan 29, 2020)		criteria provided, single submitter
41.
GRCh37:
Chr16:28488869
GRCh38:
Chr16:28477548
CLN3P429S, P375S, P329S, P351S, P405Snot provided, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr16:28488870
GRCh38:
Chr16:28477549
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Aug 5, 2020)		criteria provided, single submitter
43.
GRCh37:
Chr16:28488878
GRCh38:
Chr16:28477557
CLN3L402V, L426V, L348V, L372V, L326VNeuronal ceroid lipofuscinosisUncertain significance
(Sep 11, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr16:28488882
GRCh38:
Chr16:28477561
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Sep 17, 2020)		criteria provided, single submitter
45.
GRCh37:
Chr16:28488882
GRCh38:
Chr16:28477561
CLN3L325fs, L425fs, L371fs, L347fs, L401fsNeuronal ceroid lipofuscinosis 3Likely pathogenicno assertion criteria provided
46.
GRCh37:
Chr16:28488885
GRCh38:
Chr16:28477564
CLN3Neuronal ceroid lipofuscinosis, Inborn genetic diseasesLikely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:28488886-28488887
GRCh38:
Chr16:28477565-28477566
CLN3S345fs, S369fs, S423fs, S323fs, S399fsNeuronal ceroid lipofuscinosisUncertain significance
(Jun 5, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr16:28488886
GRCh38:
Chr16:28477565
CLN3S323L, S345L, S369L, S399L, S423LNeuronal ceroid lipofuscinosis, Retinitis pigmentosaUncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr16:28488886
GRCh38:
Chr16:28477565
CLN3S423*, S323*, S399*, S345*, S369*Neuronal ceroid lipofuscinosis 3Likely pathogenic
(May 28, 2019)		criteria provided, single submitter
50.
GRCh37:
Chr16:28488888
GRCh38:
Chr16:28477567
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Oct 16, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr16:28488889
GRCh38:
Chr16:28477568
CLN3L322P, L344P, L368P, L398P, L422PNeuronal ceroid lipofuscinosisUncertain significance
(Aug 26, 2021)		criteria provided, single submitter
52.
GRCh37:
Chr16:28488891
GRCh38:
Chr16:28477570
CLN3Neuronal ceroid lipofuscinosisLikely benign
(May 1, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr16:28488892
GRCh38:
Chr16:28477571
CLN3S421F, S367F, S321F, S397F, S343FNeuronal ceroid lipofuscinosis, Inborn genetic diseases, not provided,
Neuronal ceroid lipofuscinosis 3		Uncertain significance
(Nov 15, 2021)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr16:28488897
GRCh38:
Chr16:28477576
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Jun 13, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr16:28488898
GRCh38:
Chr16:28477577
CLN3G419E, G365E, G341E, G319E, G395ENeuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr16:28488904
GRCh38:
Chr16:28477583
CLN3T339I, T363I, T317I, T417I, T393Inot providedUncertain significance
(May 1, 2019)		criteria provided, single submitter
57.
GRCh37:
Chr16:28488905
GRCh38:
Chr16:28477584
CLN3T417A, T339A, T317A, T363A, T393ANeuronal ceroid lipofuscinosisUncertain significance
(Aug 9, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr16:28488907
GRCh38:
Chr16:28477586
CLN3D416G, D316G, D392G, D362G, D338GNeuronal ceroid lipofuscinosisLikely pathogenic
(Jun 27, 2023)		criteria provided, single submitter
59.
GRCh37:
Chr16:28488912
GRCh38:
Chr16:28477591
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Oct 25, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr16:28488914
GRCh38:
Chr16:28477593
CLN3I414V, I314V, I336V, I360V, I390VNeuronal ceroid lipofuscinosis, not provided, Neuronal ceroid lipofuscinosis 3
Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:28488920
GRCh38:
Chr16:28477599
CLN3T412A, T388A, T334A, T312A, T358Anot provided, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
Uncertain significance
(Mar 29, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr16:28488921
GRCh38:
Chr16:28477600
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Sep 10, 2020)		criteria provided, single submitter
63.
GRCh37:
Chr16:28488924
GRCh38:
Chr16:28477603
CLN3Inborn genetic diseases, not specified, not provided,
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr16:28488925
GRCh38:
Chr16:28477604
CLN3A310V, A332V, A356V, A386V, A410VNeuronal ceroid lipofuscinosisUncertain significance
(Aug 9, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr16:28488929
GRCh38:
Chr16:28477608
CLN3M409V, M355V, M309V, M331V, M385VNeuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, not provided
Uncertain significance
(Aug 18, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr16:28488939
GRCh38:
Chr16:28477618
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Nov 8, 2021)		criteria provided, single submitter
67.
GRCh37:
Chr16:28488940
GRCh38:
Chr16:28477619
CLN3R305Q, R327Q, R351Q, R405Q, R381QNeuronal ceroid lipofuscinosisUncertain significance
(Jun 18, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr16:28488941
GRCh38:
Chr16:28477620
CLN3R405W, R351W, R305W, R327W, R381Wnot provided, Retinitis pigmentosa, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 3, Retinal dystrophy		Conflicting interpretations of pathogenicity
(Jul 24, 2023)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr16:28488941
GRCh38:
Chr16:28477620
CLN3not specifiedLikely benign
(Sep 16, 2016)		criteria provided, single submitter
70.
GRCh37:
Chr16:28488943
GRCh38:
Chr16:28477622
CLN3H404R, H326R, H350R, H304R, H380RNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Inborn genetic diseases, not specified,
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr16:28488944
GRCh38:
Chr16:28477623
CLN3H404Y, H304Y, H380Y, H326Y, H350YNeuronal ceroid lipofuscinosis, not providedUncertain significance
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:28488944
GRCh38:
Chr16:28477623
CLN3H404N, H326N, H350N, H304N, H380NNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive, Inborn genetic diseases, not specified,
not provided, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr16:28488945
GRCh38:
Chr16:28477624
CLN3Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, not provided, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 3		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr16:28488949
GRCh38:
Chr16:28477628
CLN3D302G, D324G, D348G, D378G, D402Gnot providedUncertain significance
(Apr 9, 2019)		criteria provided, single submitter
75.
GRCh37:
Chr16:28488950
GRCh38:
Chr16:28477629
CLN3D302N, D378N, D324N, D348N, D402NNeuronal ceroid lipofuscinosisUncertain significance
(Jul 7, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr16:28488951
GRCh38:
Chr16:28477630
CLN3S401R, S377R, S301R, S323R, S347RInborn genetic diseases, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:28488954
GRCh38:
Chr16:28477633
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Oct 1, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr16:28488954
GRCh38:
Chr16:28477633
CLN3not providedLikely benign
(Jun 12, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr16:28488957
GRCh38:
Chr16:28477636
CLN3Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 3
Pathogenic/Likely pathogenic
(Sep 9, 2020)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr16:28488958
GRCh38:
Chr16:28477637
CLN3Neuronal ceroid lipofuscinosisPathogenic
(Mar 10, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr16:28488959
GRCh38:
Chr16:28477638
CLN3Neuronal ceroid lipofuscinosisUncertain significance
(Jul 12, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr16:28488961
GRCh38:
Chr16:28477640
CLN3not provided, Neuronal ceroid lipofuscinosisConflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr16:28488963
GRCh38:
Chr16:28477642
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Jul 29, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr16:28488965
GRCh38:
Chr16:28477644
CLN3Neuronal ceroid lipofuscinosisLikely benign
(May 31, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr16:28488966
GRCh38:
Chr16:28477645
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Mar 1, 2020)		criteria provided, single submitter
86.
GRCh37:
Chr16:28488966
GRCh38:
Chr16:28477645
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Jul 1, 2019)		criteria provided, single submitter
87.
GRCh37:
Chr16:28488970
GRCh38:
Chr16:28477649
CLN3not specified, Neuronal ceroid lipofuscinosisLikely benign
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr16:28488972
GRCh38:
Chr16:28477651
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Mar 17, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr16:28488973
GRCh38:
Chr16:28477652
CLN3not specified, Neuronal ceroid lipofuscinosisLikely benign
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:28489041
GRCh38:
Chr16:28477720
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Mar 29, 2021)		criteria provided, single submitter
91.
GRCh37:
Chr16:28489042
GRCh38:
Chr16:28477721
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Jun 14, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr16:28489044
GRCh38:
Chr16:28477723
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Aug 21, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr16:28489045
GRCh38:
Chr16:28477724
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Jun 27, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr16:28489045
GRCh38:
Chr16:28477724
CLN3Neuronal ceroid lipofuscinosis, not specifiedBenign/Likely benign
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr16:28489045
GRCh38:
Chr16:28477724
CLN3not specified, Neuronal ceroid lipofuscinosisLikely benign
(Oct 22, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr16:28489047
GRCh38:
Chr16:28477726
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Sep 27, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr16:28489048
GRCh38:
Chr16:28477727
CLN3Neuronal ceroid lipofuscinosisLikely benign
(Dec 11, 2019)		criteria provided, single submitter
98.
GRCh37:
Chr16:28489050
GRCh38:
Chr16:28477729
CLN3not specified, Neuronal ceroid lipofuscinosisBenign/Likely benign
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr16:28489056
GRCh38:
Chr16:28477735
CLN3not provided, Cone/cone-rod dystrophyPathogenic
(Jan 9, 2020)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr16:28489057
GRCh38:
Chr16:28477736
CLN3Neuronal ceroid lipofuscinosisPathogenic/Likely pathogenic
(May 26, 2023)		criteria provided, multiple submitters, no conflicts
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