List of variants in gene KMT5B reported as pathogenic for autosomal dominant non-syndromic intellectual disability

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)
NM_017635.5(KMT5B):c.1411G>T (p.Glu471Ter)
NM_017635.5(KMT5B):c.1530_1534del (p.His512fs)	rs2153040748
NM_017635.5(KMT5B):c.1557_1558del (p.Asn520fs)	rs1555023232
NM_017635.5(KMT5B):c.1823del (p.Gly608fs)
NM_017635.5(KMT5B):c.219del (p.Ala74fs)	rs1565240833
NM_017635.5(KMT5B):c.255del (p.Ser86fs)	rs1555034768
NM_017635.5(KMT5B):c.541C>G (p.His181Asp)	rs2153055850
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)	rs114727354
NM_017635.5(KMT5B):c.668_672del (p.Lys223fs)	rs1590956245
NM_017635.5(KMT5B):c.725del (p.Leu242fs)	rs1555028154
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser)	rs1555028104
NM_017635.5(KMT5B):c.833A>T (p.Asn278Ile)	rs2153052073
NM_017635.5(KMT5B):c.840+1_840+5del	rs2153052061
NM_017635.5(KMT5B):c.856C>T (p.Arg286Ter)	rs1590954686
NM_017635.5(KMT5B):c.96dup (p.Gln33fs)

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.