List of variants in gene MYO15A reported as likely pathogenic by GeneDx

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: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His)	rs199621031	0.00026
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln)	rs117071200	0.00024
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)	rs200451098	0.00013
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp)	rs773551819	0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)	rs372466080	0.00011
NM_016239.4(MYO15A):c.6302T>C (p.Leu2101Pro)	rs201908493	0.00008
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)	rs376351191	0.00007
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)	rs766187994	0.00006
NM_016239.4(MYO15A):c.6046+1G>A	rs201978571	0.00005
NM_016239.4(MYO15A):c.10202G>A (p.Arg3401His)	rs370278266	0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)	rs1270302810	0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln)	rs368053088	0.00004
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu)	rs886052676	0.00004
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)	rs771720649	0.00003
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)	rs201067821	0.00002
NM_016239.4(MYO15A):c.3866+1G>A	rs374742590	0.00001
NM_016239.4(MYO15A):c.4216G>A (p.Glu1406Lys)	rs759810756	0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg)	rs753790346	0.00001
NM_016239.4(MYO15A):c.5649+1G>T	rs2046386900	0.00001
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln)	rs756752580	0.00001
NM_016239.4(MYO15A):c.6956+1G>A	rs1465311328	0.00001
NM_016239.4(MYO15A):c.7396-1G>A	rs760461823	0.00001
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs)	rs1221876133	0.00001
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter)	rs768257384	0.00001
NM_016239.4(MYO15A):c.1445G>A (p.Arg482Gln)
NM_016239.4(MYO15A):c.1603del (p.Leu535fs)	rs762110822
NM_016239.4(MYO15A):c.2000del (p.Pro667fs)	rs1597754305
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His)	rs2046512154
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr)	rs878853227
NM_016239.4(MYO15A):c.7495C>T (p.Gln2499Ter)	rs1567652792
NM_016239.4(MYO15A):c.7500del (p.Thr2501fs)	rs1597803558
NM_016239.4(MYO15A):c.8341G>C (p.Gly2781Arg)	rs1555546717
NM_016239.4(MYO15A):c.8789-1G>A

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.