ClinVar Miner

Variants studied for partial deletion of the short arm of chromosome 16

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
44 5 1 0 0 1 4 52

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor not provided total
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 12 0 0 0 0 12
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 4 0 0 0 1 5
CDR2, EEF2K, MOSMO, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 3 1 0 0 0 4
ATP2A1, ATXN2L, CD19, EIF3C, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 2 1 0 0 0 3
ATP2A1, ATXN2L, CD19, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 3 0 0 0 0 3
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO3, XYLT1 1 0 0 0 1 2
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 0 0 0 0 2 2
ALDOA, ASPHD1, BOLA2, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SLX1B, SPN, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 1 0 2
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SPN, SULT1A3, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 2 0 0 0 0 2
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, MAZ, MVP, MVP-DT, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 2 0 0 0 0 2
CDR2, EEF2K, MOSMO, NPIPB4, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 2 0 0 0 0 2
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 0 1
ALDOA, ASPHD1, BOLA2, BOLA2-SMG1P6, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, MAPK3, MAZ, MIR3680-2, MVP, MVP-DT, NPIPB11, NPIPB12, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1B, SLX1B-SULT1A4, SPN, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 0 1
ALDOA, ASPHD1, BOLA2, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1B, SPN, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 1
ALDOA, BOLA2B, C16orf92, CD2BP2, CORO1A, DCTPP1, DOC2A, GDPD3, HIRIP3, INO80E, ITGAL, MAPK3, MYL11, PPP4C, SEPHS2, SEPTIN1, SLX1A, SULT1A3, TAOK2, TBC1D10B, TBX6, TLCD3B, TMEM219, YPEL3, ZNF48, ZNF688, ZNF747, ZNF764, ZNF768, ZNF771, ZNF785 0 1 0 0 0 1
APOBR, AQP8, ARHGAP17, ATP2A1, ATXN2L, C16orf82, CACNG3, CD19, CDR2, CHP2, CLN3, COG7, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, METTL9, MOSMO, NDUFAB1, NFATC2IP, NPIPB4, NPIPB5, NPIPB6, NSMCE1, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2 1 0 0 0 0 1
APOBR, ATP2A1, ATXN2L, BOLA2, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, NFATC2IP, NPIPB6, NUPR1, RABEP2, SGF29, SH2B1, SLX1B, SPNS1, SULT1A1, SULT1A2, SULT1A4, TUFM 0 1 0 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, NFATC2IP, NPIPB6, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 1
ATP2A1, ATXN2L, CD19, EIF3C, LAT, LOC112340393, LOC129390780, LOC129390781, LOC129390782, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, MIR4517, MIR4721, MIR6862-2, NFATC2IP, NPIPB8, NPIPB9, RABEP2, SH2B1, SPNS1, SULT1A1, TUFM 1 0 0 0 0 1
ATP2A1, ATXN2L, EIF3C, NUPR1, SGF29, SH2B1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 1
CDR2, CDR2-DT, EEF2K, LOC105371129, LOC111562378, LOC121587534, LOC125146427, LOC125146428, LOC126862313, LOC130058628, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640, LOC130058641, LOC130058642, LOC130058643, LOC130058644, LOC130058645, LOC130058646, LOC132090373, MOSMO, PDZD9, POLR3E, SDR42E2, TRL-AAG2-4, TRL-TAG3-1, UQCRC2, VWA3A 1 0 0 0 0 1
CDR2, EEF2K, HS3ST2, MOSMO, NPIPB4, NPIPB5, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 1
CDR2, EEF2K, MOSMO, NPIPB4, NPIPB5, OTOA, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 1
CDR2, EEF2K, MOSMO, NPIPB4, NPIPB5, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 1
CDR2, EEF2K, MOSMO, NPIPB5, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 0 1 0 0 0 1
EEF2K, MOSMO, PDZD9, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 1
SFTPA1 0 0 1 0 0 1
SH2B1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance risk factor not provided total
Institute of Human Genetics, University of Leipzig Medical Center 16 2 0 0 0 18
Baylor Genetics 10 2 0 0 0 12
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 8 0 1 0 0 9
GenomeConnect, ClinGen 0 0 0 0 4 4
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 2 0 0 0 0 2
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 2
Mendelics 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Blueprint Genetics 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 1

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