List of variants reported as uncertain significance for congenital limb malformation by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)	rs761053549	0.00003
GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1
NM_003289.4(TPM2):c.13_57dup (p.Ile19_Asp20insLysLysLysMetGlnMetLeuLysLeuAspLysGluAsnAlaIle)
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)	rs779027563
NM_004826.4(ECEL1):c.2314T>C (p.Cys772Arg)
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp)	rs864309724
NM_006306.4(SMC1A):c.3507+5G>A
NM_018684.4(ZC4H2):c.3G>A (p.Met1Ile)
NM_018684.4(ZC4H2):c.551del (p.Pro184fs)
NM_018684.4(ZC4H2):c.561+7G>A	rs1929057022
NM_181789.4(GLDN):c.363+1G>A	rs556661550

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.