ClinVar Miner

Variants studied for 16p11.2 deletion syndrome

Coded as:
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 total
9 1 0 0 0 1 9

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic risk factor 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 5 0 0 5
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 0 0 1 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 1
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 1 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 1
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 1 0 0 1
ATP2A1, ATXN2L, CD19, EIF3C, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 0 1 0 1
ATP2A1, ATXN2L, CD19, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic risk factor total
Baylor Genetics 5 0 0 5
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 2 0 0 2
GeneReviews 1 0 0 1
Blueprint Genetics 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 1 0 1

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