List of variants reported as uncertain significance for Larsen-like syndrome, B3GAT3 type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 93

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu)	rs140755387	0.00102
NM_012200.4(B3GAT3):c.167C>T (p.Ala56Val)	rs147526003	0.00025
NM_012200.4(B3GAT3):c.866T>C (p.Val289Ala)	rs147681657	0.00014
NM_012200.4(B3GAT3):c.176G>A (p.Arg59Gln)	rs764609129	0.00008
NM_012200.4(B3GAT3):c.910-3C>T	rs201387537	0.00008
NM_012200.4(B3GAT3):c.284G>A (p.Arg95Gln)	rs144327434	0.00006
NM_012200.4(B3GAT3):c.32C>T (p.Ala11Val)	rs568826131	0.00006
NM_012200.4(B3GAT3):c.436C>T (p.Arg146Trp)	rs566214939	0.00006
NM_012200.4(B3GAT3):c.104C>T (p.Pro35Leu)	rs762438326	0.00004
NM_012200.4(B3GAT3):c.971G>A (p.Arg324Gln)	rs369154163	0.00004
NM_012200.4(B3GAT3):c.980G>A (p.Arg327Gln)	rs569989507	0.00004
NM_012200.4(B3GAT3):c.506G>A (p.Arg169Gln)	rs371091579	0.00003
NM_012200.4(B3GAT3):c.632G>A (p.Arg211His)	rs562657438	0.00003
NM_012200.4(B3GAT3):c.806C>T (p.Ala269Val)	rs199543524	0.00003
NM_012200.4(B3GAT3):c.909G>T (p.Arg303=)	rs1278193764	0.00003
NM_012200.4(B3GAT3):c.998T>C (p.Ile333Thr)	rs763747195	0.00003
NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln)	rs770888294	0.00003
NM_012200.4(B3GAT3):c.290C>T (p.Ser97Phe)	rs576173736	0.00002
NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln)	rs758179182	0.00002
NM_012200.4(B3GAT3):c.716T>A (p.Phe239Tyr)	rs1436330448	0.00002
NM_012200.4(B3GAT3):c.1000G>A (p.Glu334Lys)	rs762837360	0.00001
NM_012200.4(B3GAT3):c.17A>G (p.Lys6Arg)	rs1428973034	0.00001
NM_012200.4(B3GAT3):c.184C>T (p.Pro62Ser)	rs765444124	0.00001
NM_012200.4(B3GAT3):c.253G>A (p.Ala85Thr)	rs1438535552	0.00001
NM_012200.4(B3GAT3):c.259C>T (p.Leu87=)	rs755343748	0.00001
NM_012200.4(B3GAT3):c.356C>T (p.Pro119Leu)	rs746566185	0.00001
NM_012200.4(B3GAT3):c.416C>T (p.Thr139Met)	rs1327941900	0.00001
NM_012200.4(B3GAT3):c.467G>A (p.Arg156His)	rs1215648192	0.00001
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp)	rs765246909	0.00001
NM_012200.4(B3GAT3):c.526G>A (p.Gly176Ser)	rs1282350838	0.00001
NM_012200.4(B3GAT3):c.568G>A (p.Val190Ile)	rs373463855	0.00001
NM_012200.4(B3GAT3):c.593C>T (p.Thr198Ile)	rs753781915	0.00001
NM_012200.4(B3GAT3):c.743C>G (p.Pro248Arg)	rs751979169	0.00001
NM_012200.4(B3GAT3):c.910-7G>A	rs778227646	0.00001
NC_000011.9:g.(?_62380754)_(62472984_?)dup
NM_012200.4(B3GAT3):c.1006T>G (p.Ter336Gly)
NM_012200.4(B3GAT3):c.106C>A (p.Pro36Thr)	rs375817456
NM_012200.4(B3GAT3):c.11A>G (p.Lys4Arg)
NM_012200.4(B3GAT3):c.126G>C (p.Glu42Asp)	rs1188079745
NM_012200.4(B3GAT3):c.134G>A (p.Arg45Gln)	rs139875377
NM_012200.4(B3GAT3):c.134G>T (p.Arg45Leu)
NM_012200.4(B3GAT3):c.178C>G (p.Arg60Gly)
NM_012200.4(B3GAT3):c.202C>G (p.Pro68Ala)
NM_012200.4(B3GAT3):c.202C>T (p.Pro68Ser)	rs200817074
NM_012200.4(B3GAT3):c.211C>G (p.Pro71Ala)
NM_012200.4(B3GAT3):c.229A>G (p.Ile77Val)
NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser)	rs1590779613
NM_012200.4(B3GAT3):c.302G>C (p.Ser101Thr)	rs563591823
NM_012200.4(B3GAT3):c.313C>T (p.Arg105Trp)
NM_012200.4(B3GAT3):c.31G>A (p.Ala11Thr)	rs1436324851
NM_012200.4(B3GAT3):c.325C>G (p.Leu109Val)	rs1943052698
NM_012200.4(B3GAT3):c.340G>A (p.Ala114Thr)
NM_012200.4(B3GAT3):c.350C>T (p.Pro117Leu)
NM_012200.4(B3GAT3):c.371T>A (p.Leu124Gln)	rs1253042687
NM_012200.4(B3GAT3):c.424G>A (p.Ala142Thr)	rs752696250
NM_012200.4(B3GAT3):c.466C>T (p.Arg156Cys)	rs267603076
NM_012200.4(B3GAT3):c.496G>T (p.Asp166Tyr)	rs2134430036
NM_012200.4(B3GAT3):c.512G>C (p.Arg171Thr)
NM_012200.4(B3GAT3):c.514G>A (p.Gly172Arg)
NM_012200.4(B3GAT3):c.517G>A (p.Gly173Ser)
NM_012200.4(B3GAT3):c.548C>T (p.Pro183Leu)	rs746221368
NM_012200.4(B3GAT3):c.560A>C (p.Gln187Pro)
NM_012200.4(B3GAT3):c.58CTC[1] (p.Leu21del)	rs1565079578
NM_012200.4(B3GAT3):c.590A>C (p.Asn197Thr)	rs1842716430
NM_012200.4(B3GAT3):c.601C>T (p.Arg201Trp)
NM_012200.4(B3GAT3):c.657_665del (p.Leu220_Gly222del)	rs2134429110
NM_012200.4(B3GAT3):c.65A>G (p.Tyr22Cys)	rs2134439341
NM_012200.4(B3GAT3):c.685C>T (p.Pro229Ser)	rs2134429010
NM_012200.4(B3GAT3):c.694C>G (p.Gln232Glu)
NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu)	rs1454428915
NM_012200.4(B3GAT3):c.725C>T (p.Ala242Val)
NM_012200.4(B3GAT3):c.738C>T (p.Ser246=)	rs750905248
NM_012200.4(B3GAT3):c.743C>T (p.Pro248Leu)
NM_012200.4(B3GAT3):c.74T>C (p.Val25Ala)
NM_012200.4(B3GAT3):c.778C>G (p.Leu260Val)
NM_012200.4(B3GAT3):c.7CTGAAG[3] (p.Lys6_Asn7insLeuLys)
NM_012200.4(B3GAT3):c.803A>G (p.Asn268Ser)
NM_012200.4(B3GAT3):c.82+3G>A
NM_012200.4(B3GAT3):c.823G>A (p.Ala275Thr)
NM_012200.4(B3GAT3):c.829C>T (p.Arg277Trp)
NM_012200.4(B3GAT3):c.82G>A (p.Gly28Ser)
NM_012200.4(B3GAT3):c.871C>A (p.Pro291Thr)
NM_012200.4(B3GAT3):c.876G>C (p.Lys292Asn)
NM_012200.4(B3GAT3):c.907C>T (p.Arg303Trp)
NM_012200.4(B3GAT3):c.908G>A (p.Arg303Gln)
NM_012200.4(B3GAT3):c.947T>G (p.Met316Arg)
NM_012200.4(B3GAT3):c.952C>T (p.Gln318Ter)	rs2134426364
NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln)	rs1565074659
NM_012200.4(B3GAT3):c.95A>G (p.Asp32Gly)	rs1943128827
NM_012200.4(B3GAT3):c.968A>T (p.Gln323Leu)	rs2134426342
NM_012200.4(B3GAT3):c.970C>T (p.Arg324Trp)
NM_012200.4(B3GAT3):c.985T>C (p.Ser329Pro)
NM_012200.4(B3GAT3):c.992del (p.Pro331fs)	rs750535749

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.