List of variants in gene KAT6B reported as likely pathogenic for bone development disease

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012330.4(KAT6B):c.1238T>C (p.Ile413Thr)	rs1842099343
NM_012330.4(KAT6B):c.3004_3005insTTAGC (p.Arg1002fs)	rs2134159675
NM_012330.4(KAT6B):c.3022-1G>C
NM_012330.4(KAT6B):c.3373-1G>A
NM_012330.4(KAT6B):c.3590del (p.Pro1197fs)
NM_012330.4(KAT6B):c.3594del (p.Lys1199fs)
NM_012330.4(KAT6B):c.3690_3699del (p.Asn1230fs)
NM_012330.4(KAT6B):c.3857del (p.Gln1286fs)	rs2134234642
NM_012330.4(KAT6B):c.3906del (p.Ser1303fs)	rs2134234910
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs)
NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter)	rs774508465
NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs)	rs1846092532
NM_012330.4(KAT6B):c.4298A>T (p.His1433Leu)	rs2134239492
NM_012330.4(KAT6B):c.4993A>G (p.Ser1665Gly)	rs1589844927
NM_012330.4(KAT6B):c.5002A>G (p.Ser1668Gly)

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.