List of variants studied for Glycogen storage disease type III by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 129

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HGVS	dbSNP
NM_000642.2(AGL):c.-134C>G	rs548243205
NM_000642.2(AGL):c.-208C>T	rs563389574
NM_000642.3(AGL):c.*1028C>T	rs3766601
NM_000642.3(AGL):c.*1047A>T	rs886044930
NM_000642.3(AGL):c.*105T>C	rs886044924
NM_000642.3(AGL):c.*1075T>A	rs886044931
NM_000642.3(AGL):c.*1103A>G
NM_000642.3(AGL):c.*1224C>T
NM_000642.3(AGL):c.*1244T>A	rs72963791
NM_000642.3(AGL):c.*1256A>C	rs886044932
NM_000642.3(AGL):c.*1296A>C	rs1804809
NM_000642.3(AGL):c.*1359A>G
NM_000642.3(AGL):c.*1541T>C	rs3766603
NM_000642.3(AGL):c.*1558T>C
NM_000642.3(AGL):c.*1581G>C
NM_000642.3(AGL):c.*1610T>C
NM_000642.3(AGL):c.*1691A>G	rs886044933
NM_000642.3(AGL):c.*1720A>C
NM_000642.3(AGL):c.*1766G>A
NM_000642.3(AGL):c.*1817G>A
NM_000642.3(AGL):c.*1860G>T
NM_000642.3(AGL):c.*1952C>T	rs886044934
NM_000642.3(AGL):c.*1971T>C
NM_000642.3(AGL):c.*1T>A
NM_000642.3(AGL):c.*2058G>A
NM_000642.3(AGL):c.*2060T>C
NM_000642.3(AGL):c.*2160C>T	rs753401733
NM_000642.3(AGL):c.*229A>G
NM_000642.3(AGL):c.*257C>A
NM_000642.3(AGL):c.*272G>T	rs1804808
NM_000642.3(AGL):c.*292A>G	rs541731841
NM_000642.3(AGL):c.*395C>T	rs886044925
NM_000642.3(AGL):c.*400T>C
NM_000642.3(AGL):c.*562del	rs886044926
NM_000642.3(AGL):c.*564T>C	rs552782825
NM_000642.3(AGL):c.*575G>T	rs60880558
NM_000642.3(AGL):c.*595A>G
NM_000642.3(AGL):c.*604A>G
NM_000642.3(AGL):c.*615A>G
NM_000642.3(AGL):c.*670A>G	rs886044927
NM_000642.3(AGL):c.*680T>A	rs886044928
NM_000642.3(AGL):c.*682A>G
NM_000642.3(AGL):c.*698A>G
NM_000642.3(AGL):c.*732C>T	rs3766600
NM_000642.3(AGL):c.*739A>G	rs41285742
NM_000642.3(AGL):c.*794A>G	rs886044929
NM_000642.3(AGL):c.*832G>A	rs181486858
NM_000642.3(AGL):c.*83C>G
NM_000642.3(AGL):c.*99del	rs886044923
NM_000642.3(AGL):c.-104C>T
NM_000642.3(AGL):c.-10A>G	rs2307130
NM_000642.3(AGL):c.-69+1G>C	rs1413359590
NM_000642.3(AGL):c.-82A>G
NM_000642.3(AGL):c.-95A>G
NM_000642.3(AGL):c.1050G>A (p.Met350Ile)	rs140872573
NM_000642.3(AGL):c.1065G>A (p.Thr355=)	rs764914308
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)	rs558217174
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)	rs35278779
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)	rs28730701
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln)	rs17121464
NM_000642.3(AGL):c.1185+15T>C	rs17121466
NM_000642.3(AGL):c.1284-12A>C	rs886044918
NM_000642.3(AGL):c.1284-4A>T
NM_000642.3(AGL):c.1326A>G (p.Glu442=)	rs886044919
NM_000642.3(AGL):c.1481G>A (p.Arg494His)	rs141043166
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)	rs139488862
NM_000642.3(AGL):c.1794A>G (p.Gly598=)
NM_000642.3(AGL):c.1875G>T (p.Thr625=)	rs141944878
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_000642.3(AGL):c.1908A>G (p.Ser636=)	rs144723143
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser)	rs188519129
NM_000642.3(AGL):c.2001+8T>C	rs3736296
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)	rs765749454
NM_000642.3(AGL):c.207T>C (p.Asn69=)	rs2230305
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg)	rs778021848
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser)	rs139950099
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)	rs149210307
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)	rs150441555
NM_000642.3(AGL):c.2546+10T>C	rs74551473
NM_000642.3(AGL):c.2682-7T>C	rs375256646
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala)	rs761479006
NM_000642.3(AGL):c.2812+11G>A	rs555929
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys)	rs34714252
NM_000642.3(AGL):c.2905T>C (p.Tyr969His)
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg)	rs759461084
NM_000642.3(AGL):c.3084-8T>C	rs186402161
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg)
NM_000642.3(AGL):c.318C>T (p.Tyr106=)	rs376885398
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser)	rs3753494
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)	rs138063386
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg)	rs2230307
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)	rs758265909
NM_000642.3(AGL):c.334A>G (p.Ile112Val)	rs147024351
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)	rs2230308
NM_000642.3(AGL):c.344T>C (p.Val115Ala)	rs567992352
NM_000642.3(AGL):c.3569C>G (p.Pro1190Arg)
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg)	rs148930543
NM_000642.3(AGL):c.3589-14T>G	rs886044920
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)	rs11807956
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)	rs202046937
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131
NM_000642.3(AGL):c.3758G>A (p.Arg1253His)	rs12043139
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)	rs867341758
NM_000642.3(AGL):c.3849T>C (p.Ala1283=)	rs28730706
NM_000642.3(AGL):c.39C>T (p.Asn13=)	rs138203039
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys)	rs112795811
NM_000642.3(AGL):c.4162-11G>A	rs184309460
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe)	rs772976797
NM_000642.3(AGL):c.4232C>T (p.Pro1411Leu)
NM_000642.3(AGL):c.4256del (p.Pro1419fs)	rs1557792839
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)	rs143815159
NM_000642.3(AGL):c.4348-3dup	rs886044921
NM_000642.3(AGL):c.4362T>C (p.Pro1454=)	rs886044922
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	rs12118058
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)	rs372116308
NM_000642.3(AGL):c.515G>C (p.Cys172Ser)	rs766234642
NM_000642.3(AGL):c.573G>C (p.Lys191Asn)
NM_000642.3(AGL):c.609A>G (p.Lys203=)	rs186709388
NM_000642.3(AGL):c.622T>C (p.Trp208Arg)	rs202084554
NM_000642.3(AGL):c.686A>G (p.Gln229Arg)	rs17121403
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
NM_000642.3(AGL):c.82+4A>C	rs765098686
NM_000642.3(AGL):c.846+14G>A	rs376827010
NM_000642.3(AGL):c.847-7T>A	rs750785301
NM_000642.3(AGL):c.880C>T (p.Pro294Ser)	rs886044917
NM_000642.3(AGL):c.894C>T (p.Leu298=)	rs2230306
NM_000642.3(AGL):c.958+12A>G
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)	rs139399527

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