List of variants reported as likely pathogenic for bone disorder by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)	rs147021911	0.00104
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)	rs144567652	0.00088
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)	rs368728266	0.00009
NM_020812.4(DOCK6):c.387C>G (p.Tyr129Ter)	rs752015120	0.00003
NM_000088.4(COL1A1):c.2956G>A (p.Gly986Ser)
NM_000088.4(COL1A1):c.3347_3364del (p.Leu1116_Gly1121del)	rs2144542232
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)	rs2055165476
NM_000516.7(GNAS):c.154G>A (p.Gly52Ser)	rs2146005656
NM_001110556.2(FLNA):c.5183G>T (p.Gly1728Val)	rs2148107380
NM_002834.5(PTPN11):c.1070del (p.Thr357fs)	rs2135902166
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)	rs2143450145
NM_003036.4(SKI):c.106G>C (p.Ala36Pro)	rs2100789569
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)	rs267606752
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)	rs928061320
NM_006306.4(SMC1A):c.1102G>A (p.Glu368Lys)	rs2146604722
NM_014255.7(CNPY2):c.46_50del (p.Gly16fs)	rs1873865063
NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs)	rs1570654979
NM_032888.4(COL27A1):c.4020del (p.Pro1342fs)	rs2131616036
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)	rs267607591

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.