ClinVar Miner

List of variants reported as likely pathogenic for Phelan-McDermid syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys) rs200400333
NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu) rs1057519406
NM_001372044.2(SHANK3):c.1871G>C (p.Arg624Pro) rs2083140726
NM_001372044.2(SHANK3):c.2324+1del rs2146817773
NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)
NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)
NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs) rs2083280147
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs) rs2146832853
NM_001372044.2(SHANK3):c.4311_4312del (p.Arg1438fs) rs1603447144
NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter) rs2146833747
NM_001372044.2(SHANK3):c.494+2T>G rs1603445997
NM_001372044.2(SHANK3):c.4987G>T (p.Glu1663Ter)
NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
NM_001372044.2:c.288+1G>A
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.