List of variants reported as likely pathogenic for Melanoma and neural system tumor syndrome by Baylor Genetics

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)	rs749714198	0.00001
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)	rs587780668
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)	rs199907548
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	rs587778189
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)	rs104894099
NM_000077.5(CDKN2A):c.182_185dup (p.Leu63fs)
NM_000077.5(CDKN2A):c.212del (p.Asn71fs)	rs876658220
NM_000077.5(CDKN2A):c.225_243dup (p.Val82fs)
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala)	rs587782792
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly)	rs876660436
NM_000077.5(CDKN2A):c.359_360dup (p.Leu121fs)	rs1563888944
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro)	rs6413464
NM_000077.5(CDKN2A):c.457+1_457+10del	rs1587330284
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser)	rs1131691186
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys)	rs1131691186
NM_058195.4(CDKN2A):c.133del (p.Leu45fs)	rs2131148265
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs)	rs779306249

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.