ClinVar Miner

Variants studied for SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
1 1 15 4 0 20

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
SETD2 1 0 14 4 18
ADO, ANK3, ANK3-DT, ARID5B, ATOH7, CABCOCO1, CCDC6, CDK1, CTNNA3, DNAJC12, EGR2, HERC4, JMJD1C, LINC00845, LINC01515, LINC01553, LINC02621, LINC02671, LOC101928961, LOC105378328, LOC107832851, LOC107984236, LOC111946248, LOC111946249, LOC111946250, LOC116216113, LOC121366056, LOC121366057, LOC121815941, LOC121815942, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC129390171, LOC129390172, LOC129390173, LOC129390174, LOC129390175, LOC129390176, LOC129390177, LOC129390178, LOC129390179, LOC129390180, LOC129390181, LOC129390182, LOC129390183, LOC129390184, LOC129390185, LOC129390186, LOC129390187, LOC129390188, LOC130003854, LOC130003855, LOC130003856, LOC130003857, LOC130003858, LOC130003859, LOC130003860, LOC130003861, LOC130003862, LOC130003863, LOC130003864, LOC130003865, LOC130003866, LOC130003867, LOC130003868, LOC130003869, LOC130003870, LOC130003871, LOC130003872, LOC130003873, LOC130003874, LOC130003875, LOC130003876, LOC130003877, LOC130003878, LOC130003879, LOC130003880, LOC130003881, LOC130003882, LOC130003883, LOC130003884, LOC130003885, LOC130003886, LOC130003887, LOC130003888, LOC130003889, LOC130003890, LOC130003891, LOC130003892, LOC130003893, LOC130003894, LOC130003895, LOC130003896, LOC130003897, LOC130003898, LOC130003899, LOC130003900, LOC130003901, LOC130003902, LOC130003903, LOC130003904, LOC130003905, LOC130003906, LOC130003907, LOC130003908, LOC130003909, LOC130003910, LOC130003911, LOC130003912, LOC130003913, LOC130003914, LOC130003915, LOC130003916, LOC130003917, LOC130003918, LOC130003919, LOC130003920, LOC130003921, LOC130003922, LOC130003923, LOC130003924, LOC130003925, LOC130003926, LOC130003927, LOC130003928, LOC130003929, LOC130003930, LOC130003931, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC132089793, LOC132089794, LOC132089795, LOC132089796, LOC132089797, LOC132089798, LOC132089799, LOC132089801, LOC132089804, LOC132089805, LOC132089806, LOC132089807, LOC132089808, LOC132089809, LOC132089810, LOC132089811, LOC132089812, LOC132089813, LOC132089814, LOC132089815, LOC132089816, LOC132089817, LOC132089818, LOC132089819, LOC132089820, LOC132089821, LOC132089822, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132090811, LOC132090812, LOC132090813, LOC132090814, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132211101, LOC283045, LRRTM3, MIR1296, MIR7151, MYPN, NRBF2, REEP3, RHOBTB1, RTKN2, SIRT1, TMEM26, TRS-TGA1-1, ZNF365 0 1 0 0 1
LOC129936665, SETD2 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 2 5
Baylor Genetics 0 0 2 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 2
OMIM 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 1
3billion 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1

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