List of variants reported as uncertain significance for autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by Revvity Omics, Revvity

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: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)	rs769899629	0.00005
NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met)	rs753885399	0.00003
NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg)	rs1822253833	0.00001
NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln)	rs771696360	0.00001
NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn)	rs1235476273	0.00001
NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His)	rs772389785	0.00001
NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser)	rs866001782	0.00001
NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser)	rs1398284371	0.00001
NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys)	rs748470605	0.00001
NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu)	rs1824096793
NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu)	rs200263669
NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp)	rs2486763344
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe)	rs978156504
NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn)	rs2486755073
NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala)	rs1821683698
NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn)	rs2486754197
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)	rs1064794000
NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg)	rs751096264
NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg)	rs1821663767
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)	rs200651017

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.