List of variants in gene GYS2 reported as uncertain significance by Illumina Laboratory Services, Illumina

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: 50

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HGVS	dbSNP	gnomAD frequency
NM_021957.4(GYS2):c.*259T>A	rs140445396	0.00450
NM_021957.4(GYS2):c.*458A>T	rs76993768	0.00403
NM_021957.4(GYS2):c.-240A>G	rs548363075	0.00281
NM_021957.4(GYS2):c.*631del	rs576845625	0.00180
NM_021957.4(GYS2):c.1251C>T (p.Asn417=)	rs139882761	0.00031
NM_021957.4(GYS2):c.*237T>C	rs886049154	0.00022
NM_021957.4(GYS2):c.*654G>A	rs770305709	0.00019
NM_021957.4(GYS2):c.*359C>T	rs542459418	0.00016
NM_021957.4(GYS2):c.1713C>T (p.Leu571=)	rs139122418	0.00016
NM_021957.4(GYS2):c.1890+12A>G	rs192853475	0.00013
NM_021957.4(GYS2):c.630G>A (p.Gly210=)	rs201503558	0.00012
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	rs121918420	0.00009
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)	rs182582633	0.00006
NM_021957.4(GYS2):c.1810-3T>C	rs375829709	0.00005
NM_021957.4(GYS2):c.1790A>G (p.Asp597Gly)	rs767441371	0.00004
NM_021957.4(GYS2):c.2004C>T (p.Tyr668=)	rs571493564	0.00004
NM_021957.4(GYS2):c.942-12G>A	rs367916210	0.00004
NM_021957.4(GYS2):c.*406T>G	rs886445298	0.00003
NM_021957.4(GYS2):c.1129G>A (p.Val377Met)	rs199855783	0.00003
NM_021957.4(GYS2):c.1549G>C (p.Ala517Pro)	rs199936257	0.00003
NM_021957.4(GYS2):c.525C>T (p.Val175=)	rs77486019	0.00003
NM_021957.4(GYS2):c.627T>A (p.Leu209=)	rs767838400	0.00003
NM_021957.4(GYS2):c.799G>A (p.Glu267Lys)	rs768020573	0.00003
NM_021957.4(GYS2):c.756T>C (p.Ala252=)	rs886049159	0.00002
NM_021957.4(GYS2):c.*408A>G	rs1180052815	0.00001
NM_021957.4(GYS2):c.*520A>G	rs886049153	0.00001
NM_021957.4(GYS2):c.-109G>A	rs1424660561	0.00001
NM_021957.4(GYS2):c.1230-5T>G	rs777032042	0.00001
NM_021957.4(GYS2):c.1423-1G>A	rs202043849	0.00001
NM_021957.4(GYS2):c.154G>A (p.Ala52Thr)	rs886049162	0.00001
NM_021957.4(GYS2):c.1974dup (p.Val659fs)	rs1181756742	0.00001
NM_021957.4(GYS2):c.534A>G (p.Gln178=)	rs750100480	0.00001
NM_021957.4(GYS2):c.612C>A (p.Thr204=)	rs758427436	0.00001
NM_021957.4(GYS2):c.942-7del	rs537907545	0.00001
NM_021957.4(GYS2):c.948C>T (p.Leu316=)	rs374841625	0.00001
NM_021957.4(GYS2):c.*468T>C	rs1943911606
NM_021957.4(GYS2):c.*545G>A	rs562024109
NM_021957.4(GYS2):c.*567del	rs886049152
NM_021957.4(GYS2):c.*684C>T	rs746414953
NM_021957.4(GYS2):c.*735TAAA[1]	rs886049151
NM_021957.4(GYS2):c.1170-4A>G	rs886049157
NM_021957.4(GYS2):c.1171G>T (p.Asp391Tyr)	rs763052951
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)	rs121918422
NM_021957.4(GYS2):c.1820A>G (p.His607Arg)	rs886049155
NM_021957.4(GYS2):c.2055T>C (p.Phe685=)	rs201063818
NM_021957.4(GYS2):c.215A>G (p.His72Arg)	rs574787003
NM_021957.4(GYS2):c.279C>T (p.Asp93=)	rs779704436
NM_021957.4(GYS2):c.289A>G (p.Lys97Glu)	rs886049161
NM_021957.4(GYS2):c.755C>G (p.Ala252Gly)	rs886049160
NM_021957.4(GYS2):c.942-6T>C	rs886049158

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