NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000545406] |
Chr17:80117724 [GRCh38] Chr17:78091523 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1929G>A (p.Gly643=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000547082] |
Chr17:80112916 [GRCh38] Chr17:78086715 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000548222] |
Chr17:80104734 [GRCh38] Chr17:78078533 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1416C>T (p.Thr472=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001087314]|not provided [RCV000727406] |
Chr17:80110034 [GRCh38] Chr17:78083833 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2459_2461del (p.Ala820del) |
deletion |
Glycogen storage disease, type II [RCV000559933] |
Chr17:80117726..80117728 [GRCh38] Chr17:78091525..78091527 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.663C>T (p.Ile221=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002367774]|Glycogen storage disease, type II [RCV001080342]|not provided [RCV000598504] |
Chr17:80105865 [GRCh38] Chr17:78079664 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2725G>A (p.Val909Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000545976]|not provided [RCV000731605]|not specified [RCV003155227] |
Chr17:80118731 [GRCh38] Chr17:78092530 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.693-4G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000548027] |
Chr17:80107553 [GRCh38] Chr17:78081352 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.783C>T (p.Ala261=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000551801] |
Chr17:80107647 [GRCh38] Chr17:78081446 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2190-4G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001083210]|not provided [RCV000588046] |
Chr17:80116964 [GRCh38] Chr17:78090763 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.69C>T (p.Thr23=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000556024] |
Chr17:80104655 [GRCh38] Chr17:78078454 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2283C>T (p.Ala761=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448616]|Glycogen storage disease, type II [RCV000556622] |
Chr17:80117061 [GRCh38] Chr17:78090860 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.194C>A (p.Pro65His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000560407] |
Chr17:80104780 [GRCh38] Chr17:78078579 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) |
single nucleotide variant |
Glycogen storage disease II, adult form [RCV000004238]|Glycogen storage disease, type II [RCV000409137]|not provided [RCV000788193] |
Chr17:80112914 [GRCh38] Chr17:78086713 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.-32-13T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002321471]|GAA-related condition [RCV003415646]|Glycogen storage disease II, adult form [RCV000004242]|Glycogen storage disease due to acid maltase deficiency, late-onset [RCV002225068]|Glycogen storage disease, type II [RCV000055770]|Glycogen storage disease, type IV [RCV002288463]|Inborn genetic diseases [RCV000210721]|Myopathy [RCV000626740]|not provided [RCV000153285] |
Chr17:80104542 [GRCh38] Chr17:78078341 [GRCh37] Chr17:17q25.3 |
pathogenic|conflicting interpretations of pathogenicity |
GAA, IVS1AS, G-C, -1 |
single nucleotide variant |
Glycogen storage disease, type II [RCV000004252] |
Chr17:17q25.2-q25.3 |
pathogenic |
NM_000152.5(GAA):c.1326+8C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000542190] |
Chr17:80108836 [GRCh38] Chr17:78082635 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.737T>G (p.Leu246Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000544027] |
Chr17:80107601 [GRCh38] Chr17:78081400 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.270C>T (p.Phe90=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431532]|Glycogen storage disease, type II [RCV000552970] |
Chr17:80104856 [GRCh38] Chr17:78078655 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000554449]|not provided [RCV003139752] |
Chr17:80118320 [GRCh38] Chr17:78092119 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.618C>T (p.Ser206=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358437]|Glycogen storage disease, type II [RCV000556817] |
Chr17:80105820 [GRCh38] Chr17:78079619 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.116C>T (p.Pro39Leu) |
single nucleotide variant |
not provided [RCV000729535] |
Chr17:80104702 [GRCh38] Chr17:78078501 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001205738]|not provided [RCV000728538] |
Chr17:80112625 [GRCh38] Chr17:78086424 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431530]|Glycogen storage disease, type II [RCV000543367] |
Chr17:80116993 [GRCh38] Chr17:78090792 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.682G>A (p.Gly228Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000549391] |
Chr17:80105884 [GRCh38] Chr17:78079683 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.183C>T (p.Ser61=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000542895] |
Chr17:80104769 [GRCh38] Chr17:78078568 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000542949] |
Chr17:80107622 [GRCh38] Chr17:78081421 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000553278]|not provided [RCV001557806]|not specified [RCV001821499] |
Chr17:80104851 [GRCh38] Chr17:78078650 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000553472]|not provided [RCV003144320] |
Chr17:80107803 [GRCh38] Chr17:78081602 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1095A>C (p.Pro365=) |
single nucleotide variant |
not specified [RCV000602887] |
Chr17:80108508 [GRCh38] Chr17:78082307 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1310G>A (p.Arg437His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000553754] |
Chr17:80108812 [GRCh38] Chr17:78082611 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001834682]|not provided [RCV000519755] |
Chr17:80110953 [GRCh38] Chr17:78084752 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NC_000017.11:g.(?_80118193)_(80118357_?)del |
deletion |
Glycogen storage disease, type II [RCV000544456] |
Chr17:80118193..80118357 [GRCh38] Chr17:78091992..78092156 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000559302] |
Chr17:80118782 [GRCh38] Chr17:78092581 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1437+8G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000559894]|not specified [RCV000780266] |
Chr17:80110063 [GRCh38] Chr17:78083862 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.-32-18C>G |
single nucleotide variant |
Glycogen storage disease type II, infantile [RCV000758163] |
Chr17:80104537 [GRCh38] Chr17:78078336 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000543300]|not provided [RCV003144317] |
Chr17:80117023 [GRCh38] Chr17:78090822 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) |
single nucleotide variant |
Acid alpha-glucosidase, allele 2 [RCV000004235]|Cardiovascular phenotype [RCV002426487]|Glycogen storage disease, type II [RCV000531082]|not provided [RCV000078177]|not specified [RCV000117106] |
Chr17:80104857 [GRCh38] Chr17:78078656 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|other|not provided |
NM_000152.5(GAA):c.953T>C (p.Met318Thr) |
single nucleotide variant |
Glycogen storage disease type II, infantile [RCV000004236]|Glycogen storage disease, type II [RCV000780268]|not provided [RCV000727662] |
Chr17:80107894 [GRCh38] Chr17:78081693 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) |
single nucleotide variant |
Glycogen storage disease type II, infantile [RCV000004237]|Glycogen storage disease, type II [RCV000169465]|not provided [RCV003137489] |
Chr17:80110950 [GRCh38] Chr17:78084749 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) |
single nucleotide variant |
Glycogen storage disease II, adult form [RCV000004239]|Glycogen storage disease, type II [RCV000169045]|not provided [RCV001569366] |
Chr17:80113350 [GRCh38] Chr17:78087149 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) |
single nucleotide variant |
Glycogen storage disease type II, infantile [RCV000004240]|Glycogen storage disease, type II [RCV000795023] |
Chr17:80107837 [GRCh38] Chr17:78081636 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1585_1586delinsGT (p.Ser529Val) |
indel |
Glycogen storage disease II, adult form [RCV000004241] |
Chr17:80110974..80110975 [GRCh38] Chr17:78084773..78084774 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) |
deletion |
Glycogen storage disease type II, infantile [RCV000004243]|Glycogen storage disease, type II [RCV001376754] |
Chr17:80118711..80118713 [GRCh38] Chr17:78092510..78092512 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) |
single nucleotide variant |
Glycogen storage disease type II, infantile [RCV000004244]|Glycogen storage disease, type II [RCV000055768]|not provided [RCV001785448] |
Chr17:80112922 [GRCh38] Chr17:78086721 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) |
single nucleotide variant |
Acid alpha-glucosidase, allele 4 [RCV000004245]|Cardiovascular phenotype [RCV002415397]|Glycogen storage disease, type II [RCV000383641]|not provided [RCV000675237]|not specified [RCV000078165] |
Chr17:80113242 [GRCh38] Chr17:78087041 [GRCh37] Chr17:17q25.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|other |
NM_000152.5(GAA):c.2483_2646+1del |
deletion |
Glycogen storage disease, type II [RCV000004246] |
Chr17:80118193..80118357 [GRCh38] Chr17:78091992..78092156 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) |
single nucleotide variant |
Glycogen storage disease II, adult form [RCV000004247]|Glycogen storage disease, type II [RCV001174962]|not provided [RCV001785449] |
Chr17:80111023 [GRCh38] Chr17:78084822 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.525del (p.Glu176fs) |
deletion |
Glycogen storage disease, type II [RCV000004248]|not provided [RCV000078181] |
Chr17:80105111 [GRCh38] Chr17:78078910 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000004249]|not provided [RCV000255539] |
Chr17:80118271 [GRCh38] Chr17:78092070 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.710C>T (p.Ala237Val) |
single nucleotide variant |
Glycogen storage disease II, adult form [RCV000004250]|Glycogen storage disease, type II [RCV000664615]|not provided [RCV003329226]|not specified [RCV002265547] |
Chr17:80107574 [GRCh38] Chr17:78081373 [GRCh37] Chr17:17q25.3 |
pathogenic|uncertain significance |
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) |
single nucleotide variant |
Glycogen storage disease II, adult form [RCV000004251]|Glycogen storage disease, type II [RCV000578430]|not provided [RCV000728952] |
Chr17:80107818 [GRCh38] Chr17:78081617 [GRCh37] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 |
copy number gain |
See cases [RCV000050934] |
Chr17:78901959..83086677 [GRCh38] Chr17:76898041..81044553 [GRCh37] Chr17:74409636..78637842 [NCBI36] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 |
copy number gain |
See cases [RCV000050685] |
Chr17:78092236..83086677 [GRCh38] Chr17:76088317..81044553 [GRCh37] Chr17:73599912..78637842 [NCBI36] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 |
copy number gain |
See cases [RCV000052486] |
Chr17:69209079..83086677 [GRCh38] Chr17:67205220..81044553 [GRCh37] Chr17:64716815..78637842 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 |
copy number gain |
See cases [RCV000052497] |
Chr17:78918650..83021095 [GRCh38] Chr17:76914732..80978971 [GRCh37] Chr17:74426327..78572260 [NCBI36] Chr17:17q25.3 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
NM_000152.3(GAA):c.1081C>T (p.Pro361Ser) |
single nucleotide variant |
Malignant melanoma [RCV000071703] |
Chr17:80108494 [GRCh38] Chr17:78082293 [GRCh37] Chr17:75696888 [NCBI36] Chr17:17q25.3 |
not provided |
NM_000152.5(GAA):c.858+8G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001085423]|not provided [RCV000675222]|not specified [RCV000117108] |
Chr17:80107730 [GRCh38] Chr17:78081529 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.*3G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000388157]|not provided [RCV000675251]|not specified [RCV000078153] |
Chr17:80119334 [GRCh38] Chr17:78093133 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1075+13C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001128337]|not provided [RCV000675225]|not specified [RCV000078154] |
Chr17:80108422 [GRCh38] Chr17:78082221 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_000152.5(GAA):c.1203G>A (p.Gln401=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345390]|Glycogen storage disease, type II [RCV000344845]|not provided [RCV000675226]|not specified [RCV000078155] |
Chr17:80108705 [GRCh38] Chr17:78082504 [GRCh37] Chr17:17q25.3 |
benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1327-18A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000606017]|not provided [RCV000675227]|not specified [RCV000078156] |
Chr17:80109927 [GRCh38] Chr17:78083726 [GRCh37] Chr17:17q25.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381395]|Glycogen storage disease, type II [RCV000311878]|not provided [RCV000675228]|not specified [RCV000078157] |
Chr17:80109992 [GRCh38] Chr17:78083791 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1438-19G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000610914]|not provided [RCV000675229]|not specified [RCV000078158] |
Chr17:80110708 [GRCh38] Chr17:78084507 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000173646]|not provided [RCV000790665] |
Chr17:80110754 [GRCh38] Chr17:78084553 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1581G>A (p.Arg527=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399467]|Glycogen storage disease, type II [RCV000301295]|not provided [RCV000675230]|not specified [RCV000078160] |
Chr17:80110970 [GRCh38] Chr17:78084769 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298132]|Glycogen storage disease, type II [RCV000353996]|not provided [RCV000431108]|not specified [RCV000078161] |
Chr17:80112072 [GRCh38] Chr17:78085871 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|other |
NM_000152.5(GAA):c.1754+12G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000261416]|not provided [RCV000675231]|not specified [RCV000078162] |
Chr17:80112112 [GRCh38] Chr17:78085911 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.2012T>G (p.Met671Arg) |
single nucleotide variant |
not provided [RCV000174660] |
Chr17:80112999 [GRCh38] Chr17:78086798 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2040+20A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000605515]|not provided [RCV000675236]|not specified [RCV000078164] |
Chr17:80113047 [GRCh38] Chr17:78086846 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) |
duplication |
Glycogen storage disease, type II [RCV001383432]|not provided [RCV000174830] |
Chr17:80113240..80113241 [GRCh38] Chr17:78087039..78087040 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000792061]|not provided [RCV000174831] |
Chr17:80113282 [GRCh38] Chr17:78087081 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2133A>G (p.Thr711=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415574]|Glycogen storage disease, type II [RCV000292038]|not provided [RCV000675238]|not specified [RCV000078168] |
Chr17:80113310 [GRCh38] Chr17:78087109 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2331+20G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000600128]|not provided [RCV000675242]|not specified [RCV000078169] |
Chr17:80117129 [GRCh38] Chr17:78090928 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2332-12A>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248964]|not provided [RCV000723547]|not specified [RCV000244544] |
Chr17:80117588 [GRCh38] Chr17:78091387 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444547]|Glycogen storage disease, type II [RCV000336875]|not provided [RCV000675244]|not specified [RCV000078171] |
Chr17:80117606 [GRCh38] Chr17:78091405 [GRCh37] Chr17:17q25.3 |
benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453395]|Glycogen storage disease, type II [RCV000296830]|not provided [RCV000675246]|not specified [RCV000078172] |
Chr17:80117714 [GRCh38] Chr17:78091513 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_000152.5(GAA):c.2481+16G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249017]|not provided [RCV000675247]|not specified [RCV000078173] |
Chr17:80117765 [GRCh38] Chr17:78091564 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001200861]|not provided [RCV000175263] |
Chr17:80118223 [GRCh38] Chr17:78092022 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2544del (p.Lys849fs) |
deletion |
Glycogen storage disease, type II [RCV001249089]|not provided [RCV000175264] |
Chr17:80118254 [GRCh38] Chr17:78092053 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2553G>A (p.Gly851=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453396]|Glycogen storage disease, type II [RCV000399277]|not provided [RCV000675248]|not specified [RCV000078176] |
Chr17:80118264 [GRCh38] Chr17:78092063 [GRCh37] Chr17:17q25.3 |
benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433584]|Glycogen storage disease, type II [RCV000308857]|not provided [RCV000675250]|not specified [RCV000078178] |
Chr17:80118786 [GRCh38] Chr17:78092585 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000811478]|not provided [RCV000078179] |
Chr17:80104893 [GRCh38] Chr17:78078692 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.324T>C (p.Cys108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321569]|Glycogen storage disease, type II [RCV000284275]|Primary ciliary dyskinesia [RCV000299885]|not provided [RCV000587169]|not specified [RCV000078180] |
Chr17:80104910 [GRCh38] Chr17:78078709 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.547-4C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002345391]|Glycogen storage disease, type II [RCV000369731]|not provided [RCV000675216]|not specified [RCV000078182] |
Chr17:80105745 [GRCh38] Chr17:78079544 [GRCh37] Chr17:17q25.3 |
benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.596A>G (p.His199Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354274]|Glycogen storage disease, type II [RCV000275148]|not provided [RCV000675217]|not specified [RCV000078183] |
Chr17:80105798 [GRCh38] Chr17:78079597 [GRCh37] Chr17:17q25.3 |
benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.642C>T (p.Ser214=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362722]|Glycogen storage disease, type II [RCV000330247]|not provided [RCV000586465]|not specified [RCV000078184] |
Chr17:80105844 [GRCh38] Chr17:78079643 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.668G>A (p.Arg223His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362723]|Glycogen storage disease, type II [RCV000169616]|not provided [RCV000675218]|not specified [RCV000078185] |
Chr17:80105870 [GRCh38] Chr17:78079669 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC |
insertion |
Glycogen storage disease, type II [RCV000578107]|not provided [RCV000588321]|not specified [RCV000078186] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.921A>T (p.Ala307=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371924]|Glycogen storage disease, type II [RCV000376333]|not provided [RCV000675223]|not specified [RCV000078187] |
Chr17:80107862 [GRCh38] Chr17:78081661 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.955+12G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000284185]|not provided [RCV000675224]|not specified [RCV000078188] |
Chr17:80107908 [GRCh38] Chr17:78081707 [GRCh37] Chr17:17q25.3 |
benign|conflicting interpretations of pathogenicity |
NM_017950.3(CCDC40):c.3059A>C (p.Glu1020Ala) |
single nucleotide variant |
Malignant melanoma [RCV000071702] |
Chr17:80097282 [GRCh38] Chr17:78071081 [GRCh37] Chr17:75685676 [NCBI36] Chr17:17q25.3 |
not provided |
NM_000152.5(GAA):c.447G>A (p.Thr149=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326815]|Glycogen storage disease, type II [RCV000402346]|not provided [RCV001573616]|not specified [RCV000117107] |
Chr17:80105033 [GRCh38] Chr17:78078832 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.-284G>A |
single nucleotide variant |
not specified [RCV000603283] |
Chr17:80101639 [GRCh38] Chr17:78075438 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001242470]|not provided [RCV000174449] |
Chr17:80112625 [GRCh38] Chr17:78086424 [GRCh37] Chr17:17q25.3 |
pathogenic |
Single allele |
duplication |
Glycogen storage disease, type II [RCV000174830] |
Chr17:78087046..78087047 [GRCh37] |
pathogenic |
NM_000152.5(GAA):c.955+5G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001304641] |
Chr17:80107901 [GRCh38] Chr17:78081700 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001889212] |
Chr17:80117678 [GRCh38] Chr17:78091477 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000545994]|not provided [RCV001704853]|not specified [RCV000178719] |
Chr17:80107858 [GRCh38] Chr17:78081657 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro) |
deletion |
Glycogen storage disease, type II [RCV001295051] |
Chr17:80110006..80110023 [GRCh38] Chr17:78083805..78083822 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2122C>G (p.His708Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418935]|Glycogen storage disease, type II [RCV001307827]|not provided [RCV001760367] |
Chr17:80113299 [GRCh38] Chr17:78087098 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001307235] |
Chr17:80108730 [GRCh38] Chr17:78082529 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_78090757)_(78093140_?)dup |
duplication |
Glycogen storage disease, type II [RCV001307812] |
Chr17:78090757..78093140 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2637G>A (p.Leu879=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001297450] |
Chr17:80118348 [GRCh38] Chr17:78092147 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001299058] |
Chr17:80108373 [GRCh38] Chr17:78082172 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1889-7C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001299107] |
Chr17:80112869 [GRCh38] Chr17:78086668 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001307146] |
Chr17:80108542 [GRCh38] Chr17:78082341 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002516609]|not provided [RCV000173980] |
Chr17:80110972 [GRCh38] Chr17:78084771 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1722C>T (p.Leu574=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298215]|Glycogen storage disease, type II [RCV001083922]|not provided [RCV000174222] |
Chr17:80112068 [GRCh38] Chr17:78085867 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.858+6GCGGCGG[3] |
microsatellite |
Glycogen storage disease, type II [RCV001429143]|not specified [RCV000153286] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000540247]|not provided [RCV000657136] |
Chr17:80113333 [GRCh38] Chr17:78087132 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2157G>A (p.Ala719=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426832]|Glycogen storage disease, type II [RCV001087616]|not provided [RCV000724450]|not specified [RCV002265659] |
Chr17:80113334 [GRCh38] Chr17:78087133 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1889-5C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001128431]|not provided [RCV000174661] |
Chr17:80112871 [GRCh38] Chr17:78086670 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2415G>A (p.Val805=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453612]|Glycogen storage disease, type II [RCV000390395]|not provided [RCV000724845]|not specified [RCV002222424] |
Chr17:80117683 [GRCh38] Chr17:78091482 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2739C>G (p.Pro913=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433767]|Glycogen storage disease, type II [RCV001082677]|not provided [RCV000175390] |
Chr17:80118745 [GRCh38] Chr17:78092544 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 |
copy number gain |
See cases [RCV000143342] |
Chr17:69916435..83102552 [GRCh38] Chr17:67912576..81048189 [GRCh37] Chr17:65424171..78653717 [NCBI36] Chr17:17q24.3-25.3 |
pathogenic |
NM_000152.5(GAA):c.858+30T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001537765]|not provided [RCV001640191]|not specified [RCV000153287] |
Chr17:80107752 [GRCh38] Chr17:78081551 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2400C>T (p.Ser800=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444632]|Glycogen storage disease, type II [RCV001079574]|not provided [RCV000675245]|not specified [RCV000153291] |
Chr17:80117668 [GRCh38] Chr17:78091467 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000156939]|not provided [RCV001579766] |
Chr17:80108338 [GRCh38] Chr17:78082137 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2078dup (p.Ala694fs) |
duplication |
Glycogen storage disease, type II [RCV000156940]|not provided [RCV000733261] |
Chr17:80113254..80113255 [GRCh38] Chr17:78087053..78087054 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.271_272delinsAG (p.Asp91Ser) |
indel |
not provided [RCV000175528] |
Chr17:80104857..80104858 [GRCh38] Chr17:78078656..78078657 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.318C>T (p.Arg106=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321692]|Glycogen storage disease, type II [RCV001248965]|not provided [RCV000724466] |
Chr17:80104904 [GRCh38] Chr17:78078703 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000156941]|not provided [RCV001310382] |
Chr17:80107837 [GRCh38] Chr17:78081636 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001326695]|not provided [RCV000153288] |
Chr17:80108721 [GRCh38] Chr17:78082520 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000591376]|not provided [RCV000723464] |
Chr17:80112664 [GRCh38] Chr17:78086463 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2380C>G (p.Arg794Gly) |
single nucleotide variant |
not provided [RCV000153290] |
Chr17:80117648 [GRCh38] Chr17:78091447 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) |
single nucleotide variant |
Glycogen storage disease [RCV000825562]|Glycogen storage disease, type II [RCV000283919]|not provided [RCV000254988] |
Chr17:80117016 [GRCh38] Chr17:78090815 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169030]|not provided [RCV000483035] |
Chr17:80112920 [GRCh38] Chr17:78086719 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169099]|not provided [RCV000725325] |
Chr17:80113001 [GRCh38] Chr17:78086800 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1A>G (p.Met1Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169114] |
Chr17:80104587 [GRCh38] Chr17:78078386 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169115]|not provided [RCV001781521] |
Chr17:80112666 [GRCh38] Chr17:78086465 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169127]|not provided [RCV000723463] |
Chr17:80107866 [GRCh38] Chr17:78081665 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169139]|not provided [RCV000727645] |
Chr17:80107648 [GRCh38] Chr17:78081447 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.569G>A (p.Arg190His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169143]|not provided [RCV003144146] |
Chr17:80105771 [GRCh38] Chr17:78079570 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1051del (p.Val351fs) |
deletion |
Glycogen storage disease, type II [RCV000169190]|not provided [RCV000725759] |
Chr17:80108384 [GRCh38] Chr17:78082183 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169210] |
Chr17:80108569 [GRCh38] Chr17:78082368 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) |
deletion |
Glycogen storage disease, type II [RCV000169228]|not provided [RCV001781522] |
Chr17:80110029..80110032 [GRCh38] Chr17:78083828..78083831 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) |
indel |
Glycogen storage disease, type II [RCV000169234]|not provided [RCV000725968] |
Chr17:80107630..80107649 [GRCh38] Chr17:78081429..78081448 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169262]|not provided [RCV001781523] |
Chr17:80112929 [GRCh38] Chr17:78086728 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169263] |
Chr17:80104758 [GRCh38] Chr17:78078557 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2140del (p.His714fs) |
deletion |
Glycogen storage disease, type II [RCV000169264]|not provided [RCV000725052] |
Chr17:80113316 [GRCh38] Chr17:78087115 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2646+2T>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169291]|not provided [RCV001781525] |
Chr17:80118359 [GRCh38] Chr17:78092158 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) |
deletion |
Glycogen storage disease, type II [RCV000169308]|not provided [RCV000726059] |
Chr17:80112650 [GRCh38] Chr17:78086449 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169376] |
Chr17:80104929 [GRCh38] Chr17:78078728 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) |
microsatellite |
Glycogen storage disease, type II [RCV000169390]|not provided [RCV001781527] |
Chr17:80113008..80113010 [GRCh38] Chr17:78086807..78086809 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169391]|not provided [RCV002223801] |
Chr17:80110730 [GRCh38] Chr17:78084529 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169394]|not provided [RCV000723528] |
Chr17:80118319 [GRCh38] Chr17:78092118 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1933G>C (p.Asp645His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169400] |
Chr17:80112920 [GRCh38] Chr17:78086719 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169414]|not provided [RCV000723388] |
Chr17:80110837 [GRCh38] Chr17:78084636 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169431]|not provided [RCV001090261] |
Chr17:80113281 [GRCh38] Chr17:78087080 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) |
indel |
Glycogen storage disease, type II [RCV000169433]|not provided [RCV000725812] |
Chr17:80108541..80108542 [GRCh38] Chr17:78082340..78082341 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.525_526del (p.Asn177fs) |
deletion |
Glycogen storage disease, type II [RCV000169454] |
Chr17:80105111..80105112 [GRCh38] Chr17:78078910..78078911 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.365del (p.Met122fs) |
deletion |
Glycogen storage disease, type II [RCV000169456] |
Chr17:80104951 [GRCh38] Chr17:78078750 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169462]|not provided [RCV000481943] |
Chr17:80105857 [GRCh38] Chr17:78079656 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169488]|not provided [RCV001781528] |
Chr17:80108811 [GRCh38] Chr17:78082610 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169538]|not provided [RCV000726790] |
Chr17:80110945 [GRCh38] Chr17:78084744 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) |
duplication |
Glycogen storage disease, type II [RCV000169565]|not provided [RCV000727554] |
Chr17:80112648..80112649 [GRCh38] Chr17:78086447..78086448 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1979G>A (p.Arg660His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169600]|not provided [RCV000256037] |
Chr17:80112966 [GRCh38] Chr17:78086765 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1438-1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169615]|not provided [RCV000727411] |
Chr17:80110726 [GRCh38] Chr17:78084525 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000169620]|not provided [RCV000272542] |
Chr17:80105872 [GRCh38] Chr17:78079671 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000336661]|not provided [RCV000168657] |
Chr17:80104597 [GRCh38] Chr17:78078396 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.676C>G (p.Leu226Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001000493]|Ventricular fibrillation [RCV000852728]|not provided [RCV001721094]|not specified [RCV000168658] |
Chr17:80105878 [GRCh38] Chr17:78079677 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.852G>A (p.Ala284=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444675]|Glycogen storage disease, type II [RCV000999779]|not provided [RCV000675221]|not specified [RCV000168659] |
Chr17:80107716 [GRCh38] Chr17:78081515 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.915G>A (p.Gly305=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372058]|Glycogen storage disease, type II [RCV001079201]|not provided [RCV000723389] |
Chr17:80107856 [GRCh38] Chr17:78081655 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1069G>T (p.Val357Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408727]|Glycogen storage disease, type II [RCV001042621] |
Chr17:80108403 [GRCh38] Chr17:78082202 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631097]|not provided [RCV000493868]|not specified [RCV002469040] |
Chr17:80109993 [GRCh38] Chr17:78083792 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.4(GAA):c.1495T>A (p.Trp499Arg) |
single nucleotide variant |
not specified [RCV000168663] |
Chr17:80110784 [GRCh38] Chr17:78084583 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2040+19_2040+20inv |
inversion |
Glycogen storage disease, type II [RCV001850384]|not specified [RCV000168664] |
Chr17:80113046..80113047 [GRCh38] Chr17:78086845..78086846 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000526969]|not provided [RCV000168665] |
Chr17:80113269 [GRCh38] Chr17:78087068 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000626060]|not provided [RCV001781520] |
Chr17:80117015 [GRCh38] Chr17:78090814 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2459C>T (p.Ala820Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001226590] |
Chr17:80117727 [GRCh38] Chr17:78091526 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001241634] |
Chr17:80119317 [GRCh38] Chr17:78093116 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1437G>A (p.Lys479=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000186551] |
Chr17:80110055 [GRCh38] Chr17:78083854 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1075+4G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000812980]|not provided [RCV000179260] |
Chr17:80108413 [GRCh38] Chr17:78082212 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000557680]|not provided [RCV000179719] |
Chr17:80108560 [GRCh38] Chr17:78082359 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1194+3G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631083]|not provided [RCV000179720]|not specified [RCV002282005] |
Chr17:80108610 [GRCh38] Chr17:78082409 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.688G>A (p.Val230Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362904]|Glycogen storage disease, type II [RCV000542661]|not provided [RCV000724048]|not specified [RCV000194005] |
Chr17:80105890 [GRCh38] Chr17:78079689 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.615G>A (p.Pro205=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354454]|Glycogen storage disease, type II [RCV001081410]|not provided [RCV000176996] |
Chr17:80105817 [GRCh38] Chr17:78079616 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000501120]|not provided [RCV000302789] |
Chr17:80117015 [GRCh38] Chr17:78090814 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1440A>G (p.Val480=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001078646]|not provided [RCV000841937] |
Chr17:80110729 [GRCh38] Chr17:78084528 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000543516] |
Chr17:80105011 [GRCh38] Chr17:78078810 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q25.3(chr17:78041640-78227014)x3 |
copy number gain |
See cases [RCV000240202] |
Chr17:78041640..78227014 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000381512]|not provided [RCV000288533] |
Chr17:80112001 [GRCh38] Chr17:78085800 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.471C>T (p.Pro157=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001494066] |
Chr17:80105057 [GRCh38] Chr17:78078856 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000550169]|not provided [RCV000732024] |
Chr17:80107715 [GRCh38] Chr17:78081514 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.909C>T (p.Asp303=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448617]|Glycogen storage disease, type II [RCV000552101] |
Chr17:80107850 [GRCh38] Chr17:78081649 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000558425]|not provided [RCV003133307] |
Chr17:80118220 [GRCh38] Chr17:78092019 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2430C>T (p.Pro810=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003302778]|Glycogen storage disease, type II [RCV000552424]|not specified [RCV000613218] |
Chr17:80117698 [GRCh38] Chr17:78091497 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1035A>C (p.Pro345=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000559130] |
Chr17:80108369 [GRCh38] Chr17:78082168 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2218G>A (p.Val740Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431531]|Glycogen storage disease, type II [RCV000558189] |
Chr17:80116996 [GRCh38] Chr17:78090795 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.747C>T (p.Ser249=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001394870] |
Chr17:80107611 [GRCh38] Chr17:78081410 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000797884]|Inborn genetic diseases [RCV000210587] |
Chr17:80107718 [GRCh38] Chr17:78081517 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000543914]|not provided [RCV003139751] |
Chr17:80117735 [GRCh38] Chr17:78091534 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.725C>T (p.Ala242Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000555802]|not provided [RCV000732877]|not specified [RCV000770759] |
Chr17:80107589 [GRCh38] Chr17:78081388 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000669430] |
Chr17:80104938 [GRCh38] Chr17:78078737 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1326+2T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000670606] |
Chr17:80108830 [GRCh38] Chr17:78082629 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) |
single nucleotide variant |
GAA-related condition [RCV003419922]|Glycogen storage disease, type II [RCV000550745] |
Chr17:80108766 [GRCh38] Chr17:78082565 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.355G>A (p.Gly119Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000555356] |
Chr17:80104941 [GRCh38] Chr17:78078740 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.372G>A (p.Gln124=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346407]|Glycogen storage disease, type II [RCV002085164] |
Chr17:80104958 [GRCh38] Chr17:78078757 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000542072]|Inborn genetic diseases [RCV002519855]|not provided [RCV000725668]|not specified [RCV000238987] |
Chr17:80117685 [GRCh38] Chr17:78091484 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.922C>T (p.His308Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377004]|Glycogen storage disease, type II [RCV000560890]|See cases [RCV002252158]|not provided [RCV001584243] |
Chr17:80107863 [GRCh38] Chr17:78081662 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.437del (p.Met146fs) |
deletion |
Glycogen storage disease, type II [RCV000669662]|not provided [RCV001785697] |
Chr17:80105023 [GRCh38] Chr17:78078822 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.858+15G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002064138]|not specified [RCV000601202] |
Chr17:80107737 [GRCh38] Chr17:78081536 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1552-13G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000392826]|not provided [RCV000786312]|not specified [RCV000246280] |
Chr17:80110928 [GRCh38] Chr17:78084727 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.876C>T (p.Tyr292=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298324]|Glycogen storage disease, type II [RCV000884808]|not provided [RCV003144176]|not specified [RCV000248640] |
Chr17:80107817 [GRCh38] Chr17:78081616 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1920T>G (p.Pro640=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411111]|Glycogen storage disease, type II [RCV001079385]|not provided [RCV000675235]|not specified [RCV000243841] |
Chr17:80112907 [GRCh38] Chr17:78086706 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.547-39T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249010]|not provided [RCV001651108]|not specified [RCV000246553] |
Chr17:80105710 [GRCh38] Chr17:78079509 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.693-49C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527129]|not provided [RCV000835677]|not specified [RCV000253814] |
Chr17:80107508 [GRCh38] Chr17:78081307 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1830C>T (p.Ala610=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411110]|Glycogen storage disease, type II [RCV000532577]|not provided [RCV001090260]|not specified [RCV000246872] |
Chr17:80112653 [GRCh38] Chr17:78086452 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1888+21G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000671177]|not provided [RCV000675234]|not specified [RCV000251838] |
Chr17:80112732 [GRCh38] Chr17:78086531 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2331+24T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527105]|not provided [RCV000675243]|not specified [RCV000254178] |
Chr17:80117133 [GRCh38] Chr17:78090932 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1551+49C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527134]|not provided [RCV001610560]|not specified [RCV000254239] |
Chr17:80110889 [GRCh38] Chr17:78084688 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.658G>T (p.Val220Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374412]|Glycogen storage disease, type II [RCV000631081]|not specified [RCV000244709] |
Chr17:80105860 [GRCh38] Chr17:78079659 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1599C>T (p.Cys533=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401952]|Glycogen storage disease, type II [RCV001088621]|not provided [RCV000725491]|not specified [RCV000242369] |
Chr17:80110988 [GRCh38] Chr17:78084787 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1636+43G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001537766]|not specified [RCV000247374] |
Chr17:80111068 [GRCh38] Chr17:78084867 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.859-18G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002057317]|not specified [RCV000245317] |
Chr17:80107782 [GRCh38] Chr17:78081581 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.600C>T (p.Val200=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356340]|Glycogen storage disease, type II [RCV001087957]|not provided [RCV000725492]|not specified [RCV000247742] |
Chr17:80105802 [GRCh38] Chr17:78079601 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000525907]|not provided [RCV000724696]|not specified [RCV000250396] |
Chr17:80104618 [GRCh38] Chr17:78078417 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2526C>G (p.Ala842=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002055027]|not specified [RCV000250623] |
Chr17:80118237 [GRCh38] Chr17:78092036 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001034275]|not provided [RCV000522173] |
Chr17:80118677 [GRCh38] Chr17:78092476 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165686]|Glycogen storage disease, type II [RCV000305205]|Hypertrophic cardiomyopathy [RCV000852734]|not specified [RCV000245954] |
Chr17:80118674 [GRCh38] Chr17:78092473 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000689295]|not provided [RCV000269526] |
Chr17:80112651 [GRCh38] Chr17:78086450 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1434G>A (p.Gly478=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298341]|Glycogen storage disease, type II [RCV001419469]|not provided [RCV000303014] |
Chr17:80110052 [GRCh38] Chr17:78083851 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001855124]|not provided [RCV000304646] |
Chr17:80108742 [GRCh38] Chr17:78082541 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.258C>A (p.Pro86=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001001756]|not provided [RCV000590222]|not specified [RCV000338982] |
Chr17:80104844 [GRCh38] Chr17:78078643 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000537433]|not provided [RCV000372718]|not specified [RCV000780270] |
Chr17:80108536 [GRCh38] Chr17:78082335 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1842G>A (p.Thr614=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411175]|Glycogen storage disease, type II [RCV000631085]|not provided [RCV000726353] |
Chr17:80112665 [GRCh38] Chr17:78086464 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.83G>T (p.Gly28Val) |
single nucleotide variant |
not provided [RCV000304860] |
Chr17:80104669 [GRCh38] Chr17:78078468 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000690653]|not provided [RCV000375865] |
Chr17:80110996 [GRCh38] Chr17:78084795 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165777]|Glycogen storage disease, type II [RCV001850469]|not provided [RCV000376105] |
Chr17:80117633 [GRCh38] Chr17:78091432 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.*139dup |
duplication |
Glycogen storage disease, type II [RCV000282066]|not provided [RCV001725166] |
Chr17:80119469..80119470 [GRCh38] Chr17:78093268..78093269 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.726G>A (p.Ala242=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165742]|Glycogen storage disease, type II [RCV000315968]|not provided [RCV000675220] |
Chr17:80107590 [GRCh38] Chr17:78081389 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631086]|not provided [RCV000675240]|not specified [RCV001375522] |
Chr17:80113332 [GRCh38] Chr17:78087131 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1947C>T (p.Phe649=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002059104]|not provided [RCV000342373] |
Chr17:80112934 [GRCh38] Chr17:78086733 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1211A>T (p.Asp404Val) |
single nucleotide variant |
not provided [RCV000343108] |
Chr17:80108713 [GRCh38] Chr17:78082512 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001085439]|not provided [RCV000586838]|not specified [RCV000275982] |
Chr17:80118272 [GRCh38] Chr17:78092071 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.861C>T (p.Pro287=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446521]|Glycogen storage disease, type II [RCV001080117]|not provided [RCV000274967]|not specified [RCV001192851] |
Chr17:80107802 [GRCh38] Chr17:78081601 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2391C>T (p.Ala797=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165725]|Glycogen storage disease, type II [RCV001393526]|not provided [RCV000276337] |
Chr17:80117659 [GRCh38] Chr17:78091458 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2122C>T (p.His708Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000799633]|not provided [RCV000276602] |
Chr17:80113299 [GRCh38] Chr17:78087098 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001063307]|not provided [RCV000311191] |
Chr17:80113332 [GRCh38] Chr17:78087131 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.546+3G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000692313]|not provided [RCV000342404] |
Chr17:80105135 [GRCh38] Chr17:78078934 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.317G>A (p.Arg106His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631065]|not provided [RCV000380809] |
Chr17:80104903 [GRCh38] Chr17:78078702 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.692+9T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001082113]|not provided [RCV000726158]|not specified [RCV000379348] |
Chr17:80105903 [GRCh38] Chr17:78079702 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.534C>G (p.Arg178=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002059207]|not provided [RCV000380961] |
Chr17:80105120 [GRCh38] Chr17:78078919 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.736del (p.Leu246fs) |
deletion |
Glycogen storage disease, type II [RCV000410911]|not provided [RCV000726173] |
Chr17:80107599 [GRCh38] Chr17:78081398 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000554270]|not provided [RCV000277163] |
Chr17:80112646 [GRCh38] Chr17:78086445 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2222A>T (p.Asp741Val) |
single nucleotide variant |
not provided [RCV000278660] |
Chr17:80117000 [GRCh38] Chr17:78090799 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2647-8C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001000494]|not provided [RCV001705410]|not specified [RCV000278787] |
Chr17:80118645 [GRCh38] Chr17:78092444 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.2652G>A (p.Thr884=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429231]|Glycogen storage disease, type II [RCV001085559]|not provided [RCV000726336] |
Chr17:80118658 [GRCh38] Chr17:78092457 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000664619]|not provided [RCV000278497] |
Chr17:80110736 [GRCh38] Chr17:78084535 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2656G>A (p.Val886Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429224]|Glycogen storage disease, type II [RCV002519172]|not provided [RCV000310236] |
Chr17:80118662 [GRCh38] Chr17:78092461 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1356C>T (p.Ala452=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379136]|Glycogen storage disease, type II [RCV001001227]|not provided [RCV000725823] |
Chr17:80109974 [GRCh38] Chr17:78083773 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000671751]|not provided [RCV000313359] |
Chr17:80117015 [GRCh38] Chr17:78090814 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.25T>C (p.Ser9Pro) |
single nucleotide variant |
not provided [RCV000345427] |
Chr17:80104611 [GRCh38] Chr17:78078410 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) |
single nucleotide variant |
Cardiomyopathy [RCV000852731]|Cardiovascular phenotype [RCV002379127]|Glycogen storage disease, type II [RCV000528796]|not provided [RCV001533532]|not specified [RCV000346911] |
Chr17:80108788 [GRCh38] Chr17:78082587 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001078141]|not provided [RCV000382384] |
Chr17:80108495 [GRCh38] Chr17:78082294 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2799+4A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000674123]|not provided [RCV000382015] |
Chr17:80118809 [GRCh38] Chr17:78092608 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1143C>T (p.Thr381=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450810]|Glycogen storage disease, type II [RCV001087108]|not provided [RCV000279653] |
Chr17:80108556 [GRCh38] Chr17:78082355 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2580C>T (p.Asp860=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429213]|Glycogen storage disease, type II [RCV001001755]|not provided [RCV000675249]|not specified [RCV000314439] |
Chr17:80118291 [GRCh38] Chr17:78092090 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000823361]|not provided [RCV000346548] |
Chr17:80105887 [GRCh38] Chr17:78079686 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.247G>A (p.Asp83Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631060]|not provided [RCV000349152] |
Chr17:80104833 [GRCh38] Chr17:78078632 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001080632]|not provided [RCV000349846] |
Chr17:80108767 [GRCh38] Chr17:78082566 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2510G>A (p.Arg837His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001053587]|See cases [RCV002252081]|not provided [RCV000385123] |
Chr17:80118221 [GRCh38] Chr17:78092020 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000673833]|not provided [RCV000386415] |
Chr17:80110020 [GRCh38] Chr17:78083819 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002522033]|not provided [RCV000282994] |
Chr17:80112709 [GRCh38] Chr17:78086508 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.468C>T (p.Thr156=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002059294]|not provided [RCV000283468] |
Chr17:80105054 [GRCh38] Chr17:78078853 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001086784]|not provided [RCV000283710] |
Chr17:80112071 [GRCh38] Chr17:78085870 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000705153]|not provided [RCV000316023] |
Chr17:80105816 [GRCh38] Chr17:78079615 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2712G>A (p.Val904=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001494951]|not provided [RCV000316137] |
Chr17:80118718 [GRCh38] Chr17:78092517 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1195-4G>T |
single nucleotide variant |
not provided [RCV000385088] |
Chr17:80108693 [GRCh38] Chr17:78082492 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1425G>A (p.Pro475=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392796]|Glycogen storage disease, type II [RCV001080587]|not provided [RCV000387536] |
Chr17:80110043 [GRCh38] Chr17:78083842 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC |
insertion |
Glycogen storage disease, type II [RCV001478126]|not provided [RCV000284263] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1888+5G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000692030]|not provided [RCV000284467] |
Chr17:80112716 [GRCh38] Chr17:78086515 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.993G>A (p.Arg331=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001456955]|not provided [RCV000285090] |
Chr17:80108327 [GRCh38] Chr17:78082126 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1000G>T (p.Gly334Cys) |
single nucleotide variant |
not provided [RCV000285793]|not specified [RCV003479092] |
Chr17:80108334 [GRCh38] Chr17:78082133 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001239039]|Inborn genetic diseases [RCV002519187]|not provided [RCV000318999] |
Chr17:80107851 [GRCh38] Chr17:78081650 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-2C>T |
single nucleotide variant |
not provided [RCV001697645]|not specified [RCV000352150] |
Chr17:80104585 [GRCh38] Chr17:78078384 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1482A>G (p.Thr494=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392803]|Glycogen storage disease, type II [RCV001087762]|not provided [RCV000725799]|not specified [RCV000389259] |
Chr17:80110771 [GRCh38] Chr17:78084570 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1075+9T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001087978]|not provided [RCV000726676]|not specified [RCV000285215] |
Chr17:80108418 [GRCh38] Chr17:78082217 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000550880]|not provided [RCV000286379] |
Chr17:80117053 [GRCh38] Chr17:78090852 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.664G>A (p.Val222Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631099]|not provided [RCV001705433]|not specified [RCV000287222] |
Chr17:80105866 [GRCh38] Chr17:78079665 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2064C>T (p.Ser688=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372681]|Glycogen storage disease, type II [RCV000322043]|not provided [RCV000726098]|not specified [RCV000287563] |
Chr17:80113241 [GRCh38] Chr17:78087040 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000535428]|not provided [RCV000319725] |
Chr17:80107705 [GRCh38] Chr17:78081504 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.444C>T (p.Tyr148=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001445404]|not provided [RCV000353451] |
Chr17:80105030 [GRCh38] Chr17:78078829 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.351G>A (p.Leu117=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450806]|Glycogen storage disease, type II [RCV000540488]|not provided [RCV001697647]|not specified [RCV000355526] |
Chr17:80104937 [GRCh38] Chr17:78078736 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1438-7_1438-5del |
deletion |
Glycogen storage disease, type II [RCV002522027]|not provided [RCV000726484] |
Chr17:80110718..80110720 [GRCh38] Chr17:78084517..78084519 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2647-6G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001418402]|not provided [RCV000725455]|not specified [RCV000390653] |
Chr17:80118647 [GRCh38] Chr17:78092446 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.-236C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000275921] |
Chr17:80101687 [GRCh38] Chr17:78075486 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.693-4G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001079986]|not provided [RCV000723555] |
Chr17:80107553 [GRCh38] Chr17:78081352 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC |
insertion |
Glycogen storage disease, type II [RCV000631107]|not specified [RCV000288984] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
benign|likely benign|uncertain significance |
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000550551]|Inborn genetic diseases [RCV002518156]|Primary dilated cardiomyopathy [RCV000852730]|not provided [RCV001697654]|not specified [RCV000357182] |
Chr17:80108787 [GRCh38] Chr17:78082586 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631077]|not provided [RCV000393395] |
Chr17:80113338 [GRCh38] Chr17:78087137 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000803211]|not provided [RCV000393127] |
Chr17:80112038 [GRCh38] Chr17:78085837 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000265557] |
Chr17:80118759 [GRCh38] Chr17:78092558 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1053G>T (p.Val351=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001494056]|not provided [RCV000289985] |
Chr17:80108387 [GRCh38] Chr17:78082186 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1712T>C (p.Leu571Pro) |
single nucleotide variant |
not provided [RCV000291134] |
Chr17:80112058 [GRCh38] Chr17:78085857 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.866C>T (p.Ala289Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000541633]|not provided [RCV000324645] |
Chr17:80107807 [GRCh38] Chr17:78081606 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000531819]|Primary dilated cardiomyopathy [RCV000852732]|not specified [RCV000359113] |
Chr17:80109961 [GRCh38] Chr17:78083760 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) |
single nucleotide variant |
Cardiomyopathy [RCV000852729]|Glycogen storage disease, type II [RCV000806320]|not provided [RCV000360148] |
Chr17:80107854 [GRCh38] Chr17:78081653 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.2478G>A (p.Leu826=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446522]|Glycogen storage disease, type II [RCV000335490]|not provided [RCV001534583]|not specified [RCV000395311] |
Chr17:80117746 [GRCh38] Chr17:78091545 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.705G>A (p.Thr235=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365303]|Glycogen storage disease, type II [RCV000263169]|not provided [RCV000396482]|not specified [RCV002509344] |
Chr17:80107569 [GRCh38] Chr17:78081368 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.*91G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000277433]|not provided [RCV001683311] |
Chr17:80119422 [GRCh38] Chr17:78093221 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001337258]|not provided [RCV000261064] |
Chr17:80110005 [GRCh38] Chr17:78083804 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.510C>T (p.Asp170=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165718]|Glycogen storage disease, type II [RCV001084686]|not provided [RCV000293574]|not specified [RCV003323485] |
Chr17:80105096 [GRCh38] Chr17:78078895 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2332-10C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001084656]|not provided [RCV000325242] |
Chr17:80117590 [GRCh38] Chr17:78091389 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2383G>A (p.Glu795Lys) |
single nucleotide variant |
not provided [RCV000397630] |
Chr17:80117651 [GRCh38] Chr17:78091450 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.702G>A (p.Thr234=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374477]|Glycogen storage disease, type II [RCV001447054]|not provided [RCV000398386] |
Chr17:80107566 [GRCh38] Chr17:78081365 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.546+18G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001001968]|not provided [RCV000675215]|not specified [RCV000398318] |
Chr17:80105150 [GRCh38] Chr17:78078949 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.131G>T (p.Gly44Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000278138]|not provided [RCV000786314] |
Chr17:80104717 [GRCh38] Chr17:78078516 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418138]|Glycogen storage disease, type II [RCV001082960]|not provided [RCV000726677] |
Chr17:80113286 [GRCh38] Chr17:78087085 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000702676]|not provided [RCV000295145] |
Chr17:80112664 [GRCh38] Chr17:78086463 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000794399]|not provided [RCV000295782] |
Chr17:80108601 [GRCh38] Chr17:78082400 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2427C>G (p.Ala809=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001460062]|not provided [RCV000329722] |
Chr17:80117695 [GRCh38] Chr17:78091494 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) |
single nucleotide variant |
GAA-related condition [RCV003391044]|Glycogen storage disease, type II [RCV000264524]|not provided [RCV000364773]|not specified [RCV002307478] |
Chr17:80113228 [GRCh38] Chr17:78087027 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1851G>A (p.Val617=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001425010]|not provided [RCV000363158] |
Chr17:80112674 [GRCh38] Chr17:78086473 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1560C>T (p.Asn520=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001088988]|not provided [RCV000365610] |
Chr17:80110949 [GRCh38] Chr17:78084748 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000793157]|not provided [RCV000400853] |
Chr17:80105778 [GRCh38] Chr17:78079577 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1536C>T (p.Phe512=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001085108]|not provided [RCV000725394]|not specified [RCV000264734] |
Chr17:80110825 [GRCh38] Chr17:78084624 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1930G>C (p.Ala644Pro) |
single nucleotide variant |
not provided [RCV000297668] |
Chr17:80112917 [GRCh38] Chr17:78086716 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000540426]|Primary dilated cardiomyopathy [RCV000852727]|not provided [RCV001697646]|not specified [RCV000298334] |
Chr17:80104954 [GRCh38] Chr17:78078753 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.546+6C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000818055]|not provided [RCV000330299]|not specified [RCV003323491] |
Chr17:80105138 [GRCh38] Chr17:78078937 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450800]|Glycogen storage disease, type II [RCV000529044]|not provided [RCV000331593] |
Chr17:80117101 [GRCh38] Chr17:78090900 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2474C>G (p.Pro825Arg) |
single nucleotide variant |
not provided [RCV000332207] |
Chr17:80117742 [GRCh38] Chr17:78091541 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.249C>T (p.Asp83=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001078799]|not provided [RCV000364811] |
Chr17:80104835 [GRCh38] Chr17:78078634 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.952A>T (p.Met318Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001379526]|not provided [RCV000366470] |
Chr17:80107893 [GRCh38] Chr17:78081692 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1848C>T (p.Asp616=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165735]|Glycogen storage disease, type II [RCV001088257]|not provided [RCV000402428] |
Chr17:80112671 [GRCh38] Chr17:78086470 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001049848]|not provided [RCV000403113] |
Chr17:80117075 [GRCh38] Chr17:78090874 [GRCh37] Chr17:17q25.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000815535]|Long QT syndrome [RCV000852726]|not provided [RCV000403362] |
Chr17:80104948 [GRCh38] Chr17:78078747 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.2253C>T (p.Leu751=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446535]|Glycogen storage disease, type II [RCV001080332]|not provided [RCV000403504] |
Chr17:80117031 [GRCh38] Chr17:78090830 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.412C>G (p.Leu138Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000533465]|not provided [RCV000403545] |
Chr17:80104998 [GRCh38] Chr17:78078797 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.858+4C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001211480]|not provided [RCV000264924] |
Chr17:80107726 [GRCh38] Chr17:78081525 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000686776]|not provided [RCV000267019] |
Chr17:80117691 [GRCh38] Chr17:78091490 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429212]|Glycogen storage disease, type II [RCV000382817]|Hypertrophic cardiomyopathy [RCV000852733]|not provided [RCV000675239]|not specified [RCV000265982] |
Chr17:80113329 [GRCh38] Chr17:78087128 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1637G>T (p.Gly546Val) |
single nucleotide variant |
not provided [RCV000298772] |
Chr17:80111983 [GRCh38] Chr17:78085782 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000692315]|not provided [RCV000297755]|not specified [RCV002229745] |
Chr17:80117663 [GRCh38] Chr17:78091462 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000552495]|not provided [RCV000332415] |
Chr17:80117672 [GRCh38] Chr17:78091471 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001039032]|not provided [RCV000726314]|not specified [RCV002469100] |
Chr17:80108353 [GRCh38] Chr17:78082152 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1192C>T (p.Leu398=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001081335]|not provided [RCV000404831] |
Chr17:80108605 [GRCh38] Chr17:78082404 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1410C>T (p.Asn470=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392802]|Glycogen storage disease, type II [RCV001089130]|not provided [RCV000403878] |
Chr17:80110028 [GRCh38] Chr17:78083827 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.927G>A (p.Gly309=) |
single nucleotide variant |
not provided [RCV000404123] |
Chr17:80107868 [GRCh38] Chr17:78081667 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001062907]|not provided [RCV000406460] |
Chr17:80110036 [GRCh38] Chr17:78083835 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365324]|Glycogen storage disease, type II [RCV000631058]|not provided [RCV000266365] |
Chr17:80104656 [GRCh38] Chr17:78078455 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631070]|not provided [RCV000268128]|not specified [RCV003114442] |
Chr17:80108822 [GRCh38] Chr17:78082621 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1332T>C (p.Pro444=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379134]|Glycogen storage disease, type II [RCV000553536]|not provided [RCV001558371]|not specified [RCV000301067] |
Chr17:80109950 [GRCh38] Chr17:78083749 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.667C>T (p.Arg223Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001125317]|not provided [RCV000336472] |
Chr17:80105869 [GRCh38] Chr17:78079668 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.266G>A (p.Arg89His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000547185]|not provided [RCV000370905]|not specified [RCV002509345] |
Chr17:80104852 [GRCh38] Chr17:78078651 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1347G>A (p.Ser449=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379146]|Glycogen storage disease, type II [RCV001499212]|not provided [RCV000371494] |
Chr17:80109965 [GRCh38] Chr17:78083764 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000546554]|not provided [RCV001576441]|not specified [RCV000370406] |
Chr17:80109970 [GRCh38] Chr17:78083769 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2418G>A (p.Thr806=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001088707]|not provided [RCV000371750] |
Chr17:80117686 [GRCh38] Chr17:78091485 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2800-9C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000269141] |
Chr17:80119263 [GRCh38] Chr17:78093062 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.297C>T (p.Thr99=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001087805]|not provided [RCV000597595] |
Chr17:80104883 [GRCh38] Chr17:78078682 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1794C>G (p.Ile598Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001279300]|not provided [RCV003145509] |
Chr17:80112617 [GRCh38] Chr17:78086416 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1195-15G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002084527] |
Chr17:80108682 [GRCh38] Chr17:78082481 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.115C>A (p.Pro39Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001367724] |
Chr17:80104701 [GRCh38] Chr17:78078500 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2105G>A (p.Arg702His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000541873]|not provided [RCV000489782] |
Chr17:80113282 [GRCh38] Chr17:78087081 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NC_000017.10:g.78086448A>AA |
single nucleotide variant |
not provided [RCV000727554] |
Chr17:80112649..80112650 [GRCh38] Chr17:78086448 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001279297] |
Chr17:80105881 [GRCh38] Chr17:78079680 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631094]|not provided [RCV000594929] |
Chr17:80107658 [GRCh38] Chr17:78081457 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000589039]|not provided [RCV000489843] |
Chr17:80104704 [GRCh38] Chr17:78078503 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.546+8G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001089284]|not provided [RCV000595321] |
Chr17:80105140 [GRCh38] Chr17:78078939 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1497G>A (p.Trp499Ter) |
single nucleotide variant |
not provided [RCV002292963] |
Chr17:80110786 [GRCh38] Chr17:78084585 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.258dup (p.Asn87fs) |
duplication |
Glycogen storage disease, type II [RCV000291526]|not provided [RCV000790707] |
Chr17:80104837..80104838 [GRCh38] Chr17:78078636..78078637 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.*521A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000302889] |
Chr17:80119852 [GRCh38] Chr17:78093651 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.531C>T (p.Asn177=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000314949] |
Chr17:80105117 [GRCh38] Chr17:78078916 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.546G>C (p.Thr182=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249018]|not provided [RCV000361874] |
Chr17:80105132 [GRCh38] Chr17:78078931 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000362039] |
Chr17:80113017 [GRCh38] Chr17:78086816 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000399666]|not provided [RCV001508997]|not specified [RCV000595797] |
Chr17:80104843 [GRCh38] Chr17:78078642 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.955+14C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000346137]|not specified [RCV000604164] |
Chr17:80107910 [GRCh38] Chr17:78081709 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.*98A>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000331344] |
Chr17:80119429 [GRCh38] Chr17:78093228 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.511G>A (p.Val171Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000363819] |
Chr17:80105097 [GRCh38] Chr17:78078896 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000293486] |
Chr17:80117108 [GRCh38] Chr17:78090907 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000383868]|not provided [RCV000723486] |
Chr17:80107717 [GRCh38] Chr17:78081516 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.-178G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000331041]|Primary ciliary dyskinesia [RCV000398836]|not provided [RCV001675823] |
Chr17:80101745 [GRCh38] Chr17:78075544 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001243631]|not provided [RCV000333327] |
Chr17:80112899 [GRCh38] Chr17:78086698 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2800-11C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000365905]|not specified [RCV000422518] |
Chr17:80119261 [GRCh38] Chr17:78093060 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.-62A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000385454] |
Chr17:80101861 [GRCh38] Chr17:78075660 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446586]|Glycogen storage disease, type II [RCV000385517]|not provided [RCV001706520] |
Chr17:80117097 [GRCh38] Chr17:78090896 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.546G>A (p.Thr182=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000385549]|not provided [RCV000723387] |
Chr17:80105132 [GRCh38] Chr17:78078931 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000306541]|not provided [RCV000725236] |
Chr17:80108537 [GRCh38] Chr17:78082336 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.*223C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000334735]|not provided [RCV000675252] |
Chr17:80119554 [GRCh38] Chr17:78093353 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_017950.4(CCDC40):c.*265C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000348770]|Primary ciliary dyskinesia 15 [RCV001128165]|Primary ciliary dyskinesia [RCV000401445]|not provided [RCV001709598] |
Chr17:80100040 [GRCh38] Chr17:78073839 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.-260G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000381550]|Primary ciliary dyskinesia [RCV000352096]|not provided [RCV001643014] |
Chr17:80101663 [GRCh38] Chr17:78075462 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429282]|Glycogen storage disease, type II [RCV000295389]|not provided [RCV003133223] |
Chr17:80117085 [GRCh38] Chr17:78090884 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000368867]|not provided [RCV000788438] |
Chr17:80110006 [GRCh38] Chr17:78083805 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000322655]|Primary ciliary dyskinesia 15 [RCV000601172]|Primary ciliary dyskinesia [RCV000260712]|not provided [RCV001705962]|not specified [RCV000150257] |
Chr17:80099556 [GRCh38] Chr17:78073355 [GRCh37] Chr17:17q25.3 |
benign |
NM_017950.4(CCDC40):c.*15T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000326592]|Primary ciliary dyskinesia 15 [RCV000612774]|Primary ciliary dyskinesia [RCV000272230]|not provided [RCV001636689]|not specified [RCV000150258] |
Chr17:80099790 [GRCh38] Chr17:78073589 [GRCh37] Chr17:17q25.3 |
benign |
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000265227]|Primary ciliary dyskinesia 15 [RCV000613730]|Primary ciliary dyskinesia [RCV000301116]|not provided [RCV001706030]|not specified [RCV000155469] |
Chr17:80097253 [GRCh38] Chr17:78071052 [GRCh37] Chr17:17q25.3 |
benign |
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000287474]|Primary ciliary dyskinesia 15 [RCV000608384]|Primary ciliary dyskinesia [RCV000376233]|not provided [RCV001706031]|not specified [RCV000155470] |
Chr17:80099763 [GRCh38] Chr17:78073562 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1703A>T (p.His568Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001885183]|not provided [RCV001781144] |
Chr17:80112049 [GRCh38] Chr17:78085848 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) |
microsatellite |
Glycogen storage disease, type II [RCV000285320]|not provided [RCV000725814] |
Chr17:80118210..80118211 [GRCh38] Chr17:78092009..78092010 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000285433]|not provided [RCV000498412]|not specified [RCV002265734] |
Chr17:80107625 [GRCh38] Chr17:78081424 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.*309C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000285532] |
Chr17:80119640 [GRCh38] Chr17:78093439 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000379558]|Primary ciliary dyskinesia 15 [RCV001126068]|Primary ciliary dyskinesia [RCV000266556]|not provided [RCV001705773]|not specified [RCV000214593] |
Chr17:80099686 [GRCh38] Chr17:78073485 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.934del (p.Leu312fs) |
deletion |
Glycogen storage disease, type II [RCV001265225]|not provided [RCV000308477] |
Chr17:80107874 [GRCh38] Chr17:78081673 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1636+460_2672del |
deletion |
Glycogen storage disease, type II [RCV000408768] |
Chr17:80111484..80118677 [GRCh38] Chr17:78085283..78092476 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) |
duplication |
Glycogen storage disease, type II [RCV000408809] |
Chr17:80118706..80118707 [GRCh38] Chr17:78092505..78092506 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_017950.4(CCDC40):c.*149T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000383550]|Primary ciliary dyskinesia 15 [RCV001128161]|Primary ciliary dyskinesia [RCV000381975]|not provided [RCV001653588] |
Chr17:80099924 [GRCh38] Chr17:78073723 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000309076]|not provided [RCV000786313]|not specified [RCV002469130] |
Chr17:80105089 [GRCh38] Chr17:78078888 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000353485]|not provided [RCV000725389] |
Chr17:80108398 [GRCh38] Chr17:78082197 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.54C>T (p.Leu18=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000372599] |
Chr17:80104640 [GRCh38] Chr17:78078439 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.573C>T (p.Tyr191=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350492]|Glycogen storage disease, type II [RCV001439906]|not provided [RCV001718980] |
Chr17:80105775 [GRCh38] Chr17:78079574 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1195-15G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000287500]|not specified [RCV000419694] |
Chr17:80108682 [GRCh38] Chr17:78082481 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.858+10C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000324021]|not provided [RCV000592339] |
Chr17:80107732 [GRCh38] Chr17:78081531 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000339288]|not provided [RCV003144211] |
Chr17:80104981 [GRCh38] Chr17:78078780 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000372885]|not provided [RCV000497864]|not specified [RCV002265733] |
Chr17:80107616 [GRCh38] Chr17:78081415 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.*288G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000372992] |
Chr17:80119619 [GRCh38] Chr17:78093418 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-338C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000271949]|Primary ciliary dyskinesia [RCV000294842]|not provided [RCV001711938] |
Chr17:80101585 [GRCh38] Chr17:78075384 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.*128T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000374344] |
Chr17:80119459 [GRCh38] Chr17:78093258 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2151C>T (p.His717=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000325883] |
Chr17:80113328 [GRCh38] Chr17:78087127 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000326505] |
Chr17:80119314 [GRCh38] Chr17:78093113 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429283]|Glycogen storage disease, type II [RCV000357910]|not provided [RCV003144212] |
Chr17:80118678 [GRCh38] Chr17:78092477 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248974]|not provided [RCV000375289] |
Chr17:80112604 [GRCh38] Chr17:78086403 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.*443G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000394085] |
Chr17:80119774 [GRCh38] Chr17:78093573 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1754+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001200862]|not provided [RCV000300474] |
Chr17:80112101 [GRCh38] Chr17:78085900 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.-312C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000326975]|not specified [RCV000428679] |
Chr17:80101611 [GRCh38] Chr17:78075410 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) |
single nucleotide variant |
Cardiomyopathy [RCV000852725]|Glycogen storage disease, type II [RCV000342526]|not provided [RCV003129832]|not specified [RCV000418379] |
Chr17:80104783 [GRCh38] Chr17:78078582 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_017950.4(CCDC40):c.*186A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000291536]|Primary ciliary dyskinesia 15 [RCV001128162]|Primary ciliary dyskinesia [RCV000287573]|not provided [RCV001613052] |
Chr17:80099961 [GRCh38] Chr17:78073760 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.*419G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000342723] |
Chr17:80119750 [GRCh38] Chr17:78093549 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1075+12T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000396659]|not specified [RCV000599681] |
Chr17:80108421 [GRCh38] Chr17:78082220 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1320G>C (p.Met440Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000398587] |
Chr17:80108822 [GRCh38] Chr17:78082621 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_017950.4(CCDC40):c.*654A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000394315]|Primary ciliary dyskinesia 15 [RCV001122433]|Primary ciliary dyskinesia [RCV000302253] |
Chr17:80100429 [GRCh38] Chr17:78074228 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1146T>G (p.Ala382=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002065315]|not provided [RCV001697898] |
Chr17:80108559 [GRCh38] Chr17:78082358 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631072]|not provided [RCV000598383]|not specified [RCV001526979] |
Chr17:80107809 [GRCh38] Chr17:78081608 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2646+39G>A |
single nucleotide variant |
not specified [RCV000587340] |
Chr17:80118396 [GRCh38] Chr17:78092195 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.906G>A (p.Glu302=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001084756]|not provided [RCV000592177] |
Chr17:80107847 [GRCh38] Chr17:78081646 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000804798]|not provided [RCV000592361] |
Chr17:80104896 [GRCh38] Chr17:78078695 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249091]|not provided [RCV000592368] |
Chr17:80108542 [GRCh38] Chr17:78082341 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1849G>A (p.Val617Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413678]|Glycogen storage disease, type II [RCV001240004]|not provided [RCV000591953] |
Chr17:80112672 [GRCh38] Chr17:78086471 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000694708]|not provided [RCV000592568] |
Chr17:80104603 [GRCh38] Chr17:78078402 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000598534]|not provided [RCV000726989] |
Chr17:80117014 [GRCh38] Chr17:78090813 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000586125]|not provided [RCV001783090] |
Chr17:80112081 [GRCh38] Chr17:78085880 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000586591] |
Chr17:80113365 [GRCh38] Chr17:78087164 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.727G>A (p.Asp243Asn) |
single nucleotide variant |
not provided [RCV000520829] |
Chr17:80107591 [GRCh38] Chr17:78081390 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001199859]|not provided [RCV000597451] |
Chr17:80112625 [GRCh38] Chr17:78086424 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631090]|not provided [RCV000597568] |
Chr17:80108790 [GRCh38] Chr17:78082589 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1083G>A (p.Pro361=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431754]|Glycogen storage disease, type II [RCV001080561]|not provided [RCV000727285]|not specified [RCV000593022] |
Chr17:80108496 [GRCh38] Chr17:78082295 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.74C>T (p.Ala25Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002530965]|not provided [RCV000593045] |
Chr17:80104660 [GRCh38] Chr17:78078459 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456295]|Glycogen storage disease, type II [RCV000809526]|not provided [RCV000593082] |
Chr17:80117676 [GRCh38] Chr17:78091475 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.5G>C (p.Gly2Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001854074]|not provided [RCV000593249] |
Chr17:80104591 [GRCh38] Chr17:78078390 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2481+128A>G |
single nucleotide variant |
not provided [RCV000587074] |
Chr17:80117877 [GRCh38] Chr17:78091676 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2646+55G>T |
single nucleotide variant |
not provided [RCV000589352] |
Chr17:80118412 [GRCh38] Chr17:78092211 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1630G>A (p.Val544Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000804034]|not provided [RCV000734310] |
Chr17:80111019 [GRCh38] Chr17:78084818 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1446C>T (p.Pro482=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395593]|Glycogen storage disease, type II [RCV000877601]|not provided [RCV001718973] |
Chr17:80110735 [GRCh38] Chr17:78084534 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.859-21G>A |
single nucleotide variant |
not provided [RCV000589719] |
Chr17:80107779 [GRCh38] Chr17:78081578 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1661C>T (p.Ala554Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001854032]|not provided [RCV000593435] |
Chr17:80112007 [GRCh38] Chr17:78085806 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1209C>T (p.Asn403=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350499]|Glycogen storage disease, type II [RCV001418926]|not specified [RCV000605451] |
Chr17:80108711 [GRCh38] Chr17:78082510 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1593C>T (p.Asp531=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404603]|Glycogen storage disease, type II [RCV001085105]|not provided [RCV000726853] |
Chr17:80110982 [GRCh38] Chr17:78084781 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2040+7T>G |
single nucleotide variant |
not provided [RCV000592023] |
Chr17:80113034 [GRCh38] Chr17:78086833 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) |
single nucleotide variant |
Abnormality of metabolism/homeostasis [RCV001814152]|Glycogen storage disease, type II [RCV000409055]|not provided [RCV001726152] |
Chr17:80112679 [GRCh38] Chr17:78086478 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2242del (p.Glu748fs) |
deletion |
Glycogen storage disease, type II [RCV000409225] |
Chr17:80117015 [GRCh38] Chr17:78090814 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001200860]|not provided [RCV000414717] |
Chr17:80112948 [GRCh38] Chr17:78086747 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) |
duplication |
Glycogen storage disease, type II [RCV000409565] |
Chr17:80112644..80112645 [GRCh38] Chr17:78086443..78086444 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1076-22T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000409600]|not provided [RCV001570177] |
Chr17:80108467 [GRCh38] Chr17:78082266 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.236_246del (p.Pro79fs) |
deletion |
Glycogen storage disease, type II [RCV000409689] |
Chr17:80104816..80104826 [GRCh38] Chr17:78078615..78078625 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000409827] |
Chr17:80116992 [GRCh38] Chr17:78090791 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001065556]|not provided [RCV000728232] |
Chr17:80104662 [GRCh38] Chr17:78078461 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001265218]|not provided [RCV000731020] |
Chr17:80108547 [GRCh38] Chr17:78082346 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2655_2656del (p.Val886fs) |
deletion |
Glycogen storage disease, type II [RCV001789710]|not provided [RCV000732997] |
Chr17:80118661..80118662 [GRCh38] Chr17:78092460..78092461 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1381G>A (p.Gly461Ser) |
single nucleotide variant |
not provided [RCV000735085] |
Chr17:80109999 [GRCh38] Chr17:78083798 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1076-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000409982]|not provided [RCV003137981] |
Chr17:80108487 [GRCh38] Chr17:78082286 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1194+2T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000409997] |
Chr17:80108609 [GRCh38] Chr17:78082408 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1193del (p.Leu398fs) |
deletion |
Glycogen storage disease, type II [RCV000410060] |
Chr17:80108606 [GRCh38] Chr17:78082405 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) |
microsatellite |
Glycogen storage disease, type II [RCV000410078]|not provided [RCV001782870] |
Chr17:80118204..80118205 [GRCh38] Chr17:78092003..78092004 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000410150]|not provided [RCV000733496] |
Chr17:80110953 [GRCh38] Chr17:78084752 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.546G>T (p.Thr182=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000410156]|not provided [RCV001782869] |
Chr17:80105132 [GRCh38] Chr17:78078931 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000410158]|not provided [RCV000723386] |
Chr17:80117016 [GRCh38] Chr17:78090815 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2256C>T (p.Ile752=) |
single nucleotide variant |
not provided [RCV000732207] |
Chr17:80117034 [GRCh38] Chr17:78090833 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2052G>C (p.Pro684=) |
single nucleotide variant |
not provided [RCV000734360] |
Chr17:80113229 [GRCh38] Chr17:78087028 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000410278] |
Chr17:80117005 [GRCh38] Chr17:78090804 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1099del (p.Trp367fs) |
deletion |
Glycogen storage disease, type II [RCV000410443] |
Chr17:80108512 [GRCh38] Chr17:78082311 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.924C>A (p.His308Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001042496]|not provided [RCV000730059] |
Chr17:80107865 [GRCh38] Chr17:78081664 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1416C>G (p.Thr472=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388362]|Glycogen storage disease, type II [RCV001443304]|not provided [RCV000730061] |
Chr17:80110034 [GRCh38] Chr17:78083833 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) |
deletion |
Glycogen storage disease, type II [RCV001265226]|not provided [RCV000733177] |
Chr17:80108363..80108364 [GRCh38] Chr17:78082162..78082163 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2040+1G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000410649]|not provided [RCV003137985] |
Chr17:80113028 [GRCh38] Chr17:78086827 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000410689]|not provided [RCV000730212] |
Chr17:80107816 [GRCh38] Chr17:78081615 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000410731]|not provided [RCV003137986] |
Chr17:80113002 [GRCh38] Chr17:78086801 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001585686]|not provided [RCV000728685]|not specified [RCV001193012] |
Chr17:80113282 [GRCh38] Chr17:78087081 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.900G>A (p.Ala300=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165968]|Glycogen storage disease, type II [RCV001440377]|not provided [RCV000730462] |
Chr17:80107841 [GRCh38] Chr17:78081640 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NC_000017.10:g.78087054A>AA |
single nucleotide variant |
not provided [RCV000733261] |
Chr17:80113255..80113256 [GRCh38] Chr17:78087054 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1257_1289del (p.Asp419_Gln429del) |
deletion |
not provided [RCV000734494] |
Chr17:80108755..80108787 [GRCh38] Chr17:78082554..78082586 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1418G>A (p.Gly473Asp) |
single nucleotide variant |
not provided [RCV000734524] |
Chr17:80110036 [GRCh38] Chr17:78083835 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.18G>A (p.Pro6=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001080426]|not provided [RCV000734530] |
Chr17:80104604 [GRCh38] Chr17:78078403 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002424746]|Glycogen storage disease, type II [RCV000814138]|not provided [RCV000734536] |
Chr17:80113341 [GRCh38] Chr17:78087140 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1222A>G (p.Met408Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000410896] |
Chr17:80108724 [GRCh38] Chr17:78082523 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000410905]|not provided [RCV001782865] |
Chr17:80105775 [GRCh38] Chr17:78079574 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) |
single nucleotide variant |
Glycogen storage disease [RCV000612594]|Glycogen storage disease, type II [RCV000410956]|not provided [RCV001782875] |
Chr17:80108818 [GRCh38] Chr17:78082617 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2242dup (p.Glu748fs) |
duplication |
Glycogen storage disease, type II [RCV000411023]|not provided [RCV000524025] |
Chr17:80117014..80117015 [GRCh38] Chr17:78090813..78090814 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) |
indel |
Glycogen storage disease, type II [RCV000525765]|not provided [RCV001507905] |
Chr17:80113309..80113310 [GRCh38] Chr17:78087108..78087109 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000534070]|not provided [RCV001548249] |
Chr17:80104863 [GRCh38] Chr17:78078662 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000534845] |
Chr17:80105836 [GRCh38] Chr17:78079635 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1438-15_1438-1del |
deletion |
Glycogen storage disease, type II [RCV002067172]|not provided [RCV000734655] |
Chr17:80110709..80110723 [GRCh38] Chr17:78084508..78084522 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1567del (p.Ser523fs) |
deletion |
Glycogen storage disease, type II [RCV000411045] |
Chr17:80110955 [GRCh38] Chr17:78084754 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000411086] |
Chr17:80118710 [GRCh38] Chr17:78092509 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1192dup (p.Leu398fs) |
duplication |
Glycogen storage disease, type II [RCV000411138] |
Chr17:80108600..80108601 [GRCh38] Chr17:78082399..78082400 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000411214] |
Chr17:80117020 [GRCh38] Chr17:78090819 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.393del (p.Ser132fs) |
deletion |
Glycogen storage disease, type II [RCV000411224] |
Chr17:80104977 [GRCh38] Chr17:78078776 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2332-1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000527551] |
Chr17:80117599 [GRCh38] Chr17:78091398 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000411330] |
Chr17:80112033 [GRCh38] Chr17:78085832 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) |
indel |
Glycogen storage disease, type II [RCV000411398]|not provided [RCV002461133] |
Chr17:80117059 [GRCh38] Chr17:78090858 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1115A>T (p.His372Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000411518]|not provided [RCV001702363] |
Chr17:80108528 [GRCh38] Chr17:78082327 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1143del (p.Ala382fs) |
deletion |
Glycogen storage disease, type II [RCV000411575]|not provided [RCV000727139] |
Chr17:80108555 [GRCh38] Chr17:78082354 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2331+2T>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000411608]|not provided [RCV001702635] |
Chr17:80117111 [GRCh38] Chr17:78090910 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000796656]|not provided [RCV000733479] |
Chr17:80111988 [GRCh38] Chr17:78085787 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000814905]|not provided [RCV000733480] |
Chr17:80112703 [GRCh38] Chr17:78086502 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1572C>A (p.Asn524Lys) |
single nucleotide variant |
not provided [RCV000733568] |
Chr17:80110961 [GRCh38] Chr17:78084760 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) |
microsatellite |
Glycogen storage disease, type II [RCV000411712] |
Chr17:80119284..80119285 [GRCh38] Chr17:78093083..78093084 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.281_282del (p.Pro94fs) |
deletion |
Glycogen storage disease, type II [RCV000411737] |
Chr17:80104867..80104868 [GRCh38] Chr17:78078666..78078667 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000411759]|not provided [RCV003137982] |
Chr17:80116991 [GRCh38] Chr17:78090790 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.471del (p.Thr158fs) |
deletion |
Glycogen storage disease, type II [RCV000411817] |
Chr17:80105053 [GRCh38] Chr17:78078852 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1326+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249034]|not provided [RCV000734207] |
Chr17:80108829 [GRCh38] Chr17:78082628 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1047C>T (p.Ser349=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002397516]|Glycogen storage disease, type II [RCV001089377]|not provided [RCV000734226] |
Chr17:80108381 [GRCh38] Chr17:78082180 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1835A>C (p.His612Pro) |
single nucleotide variant |
not provided [RCV000734236] |
Chr17:80112658 [GRCh38] Chr17:78086457 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000412122] |
Chr17:80104755 [GRCh38] Chr17:78078554 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000538081] |
Chr17:80118206 [GRCh38] Chr17:78092005 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000538943] |
Chr17:80108800 [GRCh38] Chr17:78082599 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.370C>G (p.Gln124Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001045349]|not provided [RCV000731689] |
Chr17:80104956 [GRCh38] Chr17:78078755 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001243448]|not provided [RCV000731715] |
Chr17:80104653 [GRCh38] Chr17:78078452 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001868966]|not provided [RCV000731720] |
Chr17:80112951 [GRCh38] Chr17:78086750 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-32-3C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000412452] |
Chr17:80104552 [GRCh38] Chr17:78078351 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2185del (p.Leu729fs) |
deletion |
Glycogen storage disease, type II [RCV000412465] |
Chr17:80113361 [GRCh38] Chr17:78087160 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000539847]|not provided [RCV001357494] |
Chr17:80118308 [GRCh38] Chr17:78092107 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2646+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002541194]|not provided [RCV001781141] |
Chr17:80118358 [GRCh38] Chr17:78092157 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.877G>C (p.Gly293Arg) |
single nucleotide variant |
not provided [RCV001781143] |
Chr17:80107818 [GRCh38] Chr17:78081617 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000540338]|not provided [RCV002275051] |
Chr17:80108776 [GRCh38] Chr17:78082575 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.482_483del (p.Pro161fs) |
deletion |
Glycogen storage disease, type II [RCV001219022]|not provided [RCV000731885] |
Chr17:80105066..80105067 [GRCh38] Chr17:78078865..78078866 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.693-5del |
deletion |
Glycogen storage disease, type II [RCV000541308] |
Chr17:80107550 [GRCh38] Chr17:78081349 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1799G>A (p.Arg600His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000408964]|not provided [RCV000521900] |
Chr17:80112622 [GRCh38] Chr17:78086421 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000409030] |
Chr17:80112655 [GRCh38] Chr17:78086454 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2361A>C (p.Pro787=) |
single nucleotide variant |
not provided [RCV000593899] |
Chr17:80117629 [GRCh38] Chr17:78091428 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.18G>C (p.Pro6=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001496183]|not provided [RCV000728216] |
Chr17:80104604 [GRCh38] Chr17:78078403 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 |
copy number gain |
See cases [RCV000447539] |
Chr17:73951701..81041938 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 |
copy number gain |
See cases [RCV000447577] |
Chr17:64241326..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
NM_000152.5(GAA):c.2052G>A (p.Pro684=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418303]|Glycogen storage disease, type II [RCV001085036]|not provided [RCV000726737]|not specified [RCV000420693] |
Chr17:80113229 [GRCh38] Chr17:78087028 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000666526]|not provided [RCV000443985] |
Chr17:80110767 [GRCh38] Chr17:78084566 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1194+17G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002062675]|not specified [RCV000434518] |
Chr17:80108624 [GRCh38] Chr17:78082423 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1932C>T (p.Ala644=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411372]|Glycogen storage disease, type II [RCV000557350]|not specified [RCV000437919] |
Chr17:80112919 [GRCh38] Chr17:78086718 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2445C>T (p.Asn815=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000934357]|not provided [RCV001721436] |
Chr17:80117713 [GRCh38] Chr17:78091512 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1882G>T (p.Val628Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001835806]|not provided [RCV000445242] |
Chr17:80112705 [GRCh38] Chr17:78086504 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1551+12C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002062618]|not specified [RCV000424323] |
Chr17:80110852 [GRCh38] Chr17:78084651 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.59C>G (p.Ser20Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001851081]|not provided [RCV000427881] |
Chr17:80104645 [GRCh38] Chr17:78078444 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1755-18T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002062331]|not provided [RCV000675232]|not specified [RCV000438385] |
Chr17:80112560 [GRCh38] Chr17:78086359 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.297C>G (p.Thr99=) |
single nucleotide variant |
not specified [RCV000424655] |
Chr17:80104883 [GRCh38] Chr17:78078682 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1758G>A (p.Ala586=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402216]|Glycogen storage disease, type II [RCV000555737]|not provided [RCV003333986]|not specified [RCV000424905] |
Chr17:80112581 [GRCh38] Chr17:78086380 [GRCh37] Chr17:17q25.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1755-7A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000878207]|not specified [RCV000442844] |
Chr17:80112571 [GRCh38] Chr17:78086370 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001584119]|not provided [RCV000728005]|not specified [RCV000428746] |
Chr17:80113309 [GRCh38] Chr17:78087108 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631082]|not provided [RCV000432229] |
Chr17:80105809 [GRCh38] Chr17:78079608 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2736G>A (p.Ala912=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436291]|Glycogen storage disease, type II [RCV001088082]|not provided [RCV000726791] |
Chr17:80118742 [GRCh38] Chr17:78092541 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.-32-4G>A |
single nucleotide variant |
not specified [RCV000419677] |
Chr17:80104551 [GRCh38] Chr17:78078350 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.972G>A (p.Pro324=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379329]|Glycogen storage disease, type II [RCV000872499]|not specified [RCV000425940] |
Chr17:80108306 [GRCh38] Chr17:78082105 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.-116C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001796971]|not provided [RCV001703848] |
Chr17:80101807 [GRCh38] Chr17:78075606 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.834G>A (p.Leu278=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436331]|Glycogen storage disease, type II [RCV001414164]|not provided [RCV000730476]|not specified [RCV000443970] |
Chr17:80107698 [GRCh38] Chr17:78081497 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.2041-17C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002065038]|not specified [RCV000444091] |
Chr17:80113201 [GRCh38] Chr17:78087000 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1092G>A (p.Pro364=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001408795]|not specified [RCV000430268] |
Chr17:80108505 [GRCh38] Chr17:78082304 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2166C>T (p.Thr722=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429391]|Glycogen storage disease, type II [RCV001473691]|not specified [RCV000430359] |
Chr17:80113343 [GRCh38] Chr17:78087142 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2571G>T (p.Leu857=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450993]|Glycogen storage disease, type II [RCV001001793]|not provided [RCV000588826] |
Chr17:80118282 [GRCh38] Chr17:78092081 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.-37A>G |
single nucleotide variant |
not specified [RCV000444495] |
Chr17:80101886 [GRCh38] Chr17:78075685 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000675111]|not provided [RCV000439307] |
Chr17:80117094 [GRCh38] Chr17:78090893 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1754+17G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002065039]|not specified [RCV000420561] |
Chr17:80112117 [GRCh38] Chr17:78085916 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.867G>A (p.Ala289=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446700]|Glycogen storage disease, type II [RCV000954057]|not provided [RCV000430754] |
Chr17:80107808 [GRCh38] Chr17:78081607 [GRCh37] Chr17:17q25.3 |
likely benign |
GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3 |
copy number gain |
See cases [RCV000448916] |
Chr17:77679924..78559726 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 |
copy number gain |
See cases [RCV000447823] |
Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3 |
pathogenic |
NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del) |
deletion |
not provided [RCV000481438] |
Chr17:80110787..80110801 [GRCh38] Chr17:78084586..78084600 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1888+10_1888+11insC |
insertion |
Glycogen storage disease, type II [RCV002063813]|not provided [RCV000675233]|not specified [RCV000479968] |
Chr17:80112721..80112722 [GRCh38] Chr17:78086520..78086521 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001231709]|not provided [RCV000483867] |
Chr17:80108409 [GRCh38] Chr17:78082208 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000548878]|not provided [RCV000485701] |
Chr17:80113246 [GRCh38] Chr17:78087045 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000464818]|not provided [RCV001782927] |
Chr17:80108495 [GRCh38] Chr17:78082294 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.858+17_858+23del |
microsatellite |
Glycogen storage disease, type II [RCV001271973]|not provided [RCV001591127]|not specified [RCV001824798] |
Chr17:80107728..80107734 [GRCh38] Chr17:78081527..78081533 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1552-3C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV003380590]|Glycogen storage disease, type II [RCV000593914]|not provided [RCV000479616] |
Chr17:80110938 [GRCh38] Chr17:78084737 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001065031]|not provided [RCV000486923] |
Chr17:80117075 [GRCh38] Chr17:78090874 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001265224]|not provided [RCV000479891] |
Chr17:80108396 [GRCh38] Chr17:78082195 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2061del (p.Phe687fs) |
deletion |
Glycogen storage disease, type II [RCV001265220]|not provided [RCV000487249] |
Chr17:80113238 [GRCh38] Chr17:78087037 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000691429]|not provided [RCV000497650] |
Chr17:80110010 [GRCh38] Chr17:78083809 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000670143]|not provided [RCV000498314] |
Chr17:80108305 [GRCh38] Chr17:78082104 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000664955]|not provided [RCV000493446] |
Chr17:80117047 [GRCh38] Chr17:78090846 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003302728]|Glycogen storage disease, type II [RCV001785637]|not provided [RCV000756197] |
Chr17:80110825 [GRCh38] Chr17:78084624 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1504A>G (p.Met502Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000526491]|not provided [RCV000726935]|not specified [RCV000506584] |
Chr17:80110793 [GRCh38] Chr17:78084592 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000670619]|not provided [RCV000492864] |
Chr17:80109996 [GRCh38] Chr17:78083795 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1626C>G (p.Pro542=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001205756]|not provided [RCV000493261] |
Chr17:80111015 [GRCh38] Chr17:78084814 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_000152.5(GAA):c.2647-1_2648del |
deletion |
Glycogen storage disease, type II [RCV000669171] |
Chr17:80118651..80118653 [GRCh38] Chr17:78092450..78092452 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 |
copy number gain |
See cases [RCV000510919] |
Chr17:73951701..81041938 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_000152.5(GAA):c.755dup (p.Pro253fs) |
duplication |
Glycogen storage disease, type II [RCV000669528] |
Chr17:80107618..80107619 [GRCh38] Chr17:78081417..78081418 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.342del (p.Lys114fs) |
deletion |
Glycogen storage disease, type II [RCV000631063] |
Chr17:80104928 [GRCh38] Chr17:78078727 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1750C>A (p.His584Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631064] |
Chr17:80112096 [GRCh38] Chr17:78085895 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631067]|not provided [RCV003129950] |
Chr17:80110027 [GRCh38] Chr17:78083826 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631068]|not provided [RCV003480721] |
Chr17:80118764 [GRCh38] Chr17:78092563 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631092]|not provided [RCV001756041] |
Chr17:80109975 [GRCh38] Chr17:78083774 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431856]|Glycogen storage disease, type II [RCV000631055] |
Chr17:80116985 [GRCh38] Chr17:78090784 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.2655C>T (p.Ile885=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431857]|Glycogen storage disease, type II [RCV000631112] |
Chr17:80118661 [GRCh38] Chr17:78092460 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2751C>T (p.Leu917=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002438646]|Glycogen storage disease, type II [RCV000631113] |
Chr17:80118757 [GRCh38] Chr17:78092556 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.-33+17C>T |
single nucleotide variant |
not specified [RCV000601855] |
Chr17:80101907 [GRCh38] Chr17:78075706 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2481+6T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000529299] |
Chr17:80117755 [GRCh38] Chr17:78091554 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000530459] |
Chr17:80110035 [GRCh38] Chr17:78083834 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456047]|Glycogen storage disease, type II [RCV000530517]|not provided [RCV001770411]|not specified [RCV003235273] |
Chr17:80117723 [GRCh38] Chr17:78091522 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000531440]|not provided [RCV003139753] |
Chr17:80107804 [GRCh38] Chr17:78081603 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1375G>C (p.Asp459His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000698293]|not provided [RCV000597199]|not specified [RCV003323624] |
Chr17:80109993 [GRCh38] Chr17:78083792 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1860C>T (p.Ser620=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413677]|Glycogen storage disease, type II [RCV001089227]|not provided [RCV000596256] |
Chr17:80112683 [GRCh38] Chr17:78086482 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.663C>G (p.Ile221Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631062] |
Chr17:80105865 [GRCh38] Chr17:78079664 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.787C>T (p.His263Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631071] |
Chr17:80107651 [GRCh38] Chr17:78081450 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631074] |
Chr17:80108316 [GRCh38] Chr17:78082115 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631091]|not provided [RCV002292572] |
Chr17:80104705 [GRCh38] Chr17:78078504 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1884G>C (p.Val628=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001080321]|not provided [RCV000596871] |
Chr17:80112707 [GRCh38] Chr17:78086506 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002483587]|not provided [RCV000596844] |
Chr17:80105046 [GRCh38] Chr17:78078845 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) |
microsatellite |
Glycogen storage disease, type II [RCV000631056] |
Chr17:80108817..80108819 [GRCh38] Chr17:78082616..78082618 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631095] |
Chr17:80108734 [GRCh38] Chr17:78082533 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631096] |
Chr17:80112983 [GRCh38] Chr17:78086782 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1245G>A (p.Thr415=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388000]|Glycogen storage disease, type II [RCV000631114] |
Chr17:80108747 [GRCh38] Chr17:78082546 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000812454]|not provided [RCV000595049] |
Chr17:80112580 [GRCh38] Chr17:78086379 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000535983]|not provided [RCV001783029] |
Chr17:80108603 [GRCh38] Chr17:78082402 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2523G>C (p.Met841Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002530992]|not provided [RCV000595586] |
Chr17:80118234 [GRCh38] Chr17:78092033 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) |
single nucleotide variant |
GAA-related condition [RCV003411583]|Glycogen storage disease, type II [RCV000672387] |
Chr17:80112920 [GRCh38] Chr17:78086719 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.31C>T (p.Arg11Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000537422] |
Chr17:80104617 [GRCh38] Chr17:78078416 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1488G>A (p.Leu496=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395288]|Glycogen storage disease, type II [RCV000538005] |
Chr17:80110777 [GRCh38] Chr17:78084576 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1637-12C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002065350]|not specified [RCV000606143] |
Chr17:80111971 [GRCh38] Chr17:78085770 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC |
insertion |
Glycogen storage disease, type II [RCV000672349] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2100C>T (p.Thr700=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001479316]|not specified [RCV000602770] |
Chr17:80113277 [GRCh38] Chr17:78087076 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-17C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002064301]|not specified [RCV000601524] |
Chr17:80113201 [GRCh38] Chr17:78087000 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001247458]|not provided [RCV000595679] |
Chr17:80108775 [GRCh38] Chr17:78082574 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1551+42G>A |
single nucleotide variant |
not provided [RCV001637095]|not specified [RCV000594177] |
Chr17:80110882 [GRCh38] Chr17:78084681 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.545C>G (p.Thr182Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631066]|not provided [RCV000594745] |
Chr17:80105131 [GRCh38] Chr17:78078930 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.692+17G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001289680]|not provided [RCV000675219]|not specified [RCV000602251] |
Chr17:80105911 [GRCh38] Chr17:78079710 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1665C>G (p.Ala555=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003301280] |
Chr17:80112011 [GRCh38] Chr17:78085810 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2040+19C>T |
single nucleotide variant |
not specified [RCV000602531] |
Chr17:80113046 [GRCh38] Chr17:78086845 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC |
insertion |
Glycogen storage disease, type II [RCV000631073] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.692+5G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631076]|not provided [RCV001784204] |
Chr17:80105899 [GRCh38] Chr17:78079698 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631078] |
Chr17:80117008 [GRCh38] Chr17:78090807 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631059] |
Chr17:80104933 [GRCh38] Chr17:78078732 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631069] |
Chr17:80112699 [GRCh38] Chr17:78086498 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631075] |
Chr17:80119305 [GRCh38] Chr17:78093104 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1948C>A (p.Leu650Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631057] |
Chr17:80112935 [GRCh38] Chr17:78086734 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1396G>C (p.Val466Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631098] |
Chr17:80110014 [GRCh38] Chr17:78083813 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.108G>C (p.Leu36=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002529717]|not specified [RCV000614933] |
Chr17:80104694 [GRCh38] Chr17:78078493 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1437+20G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002531570]|not specified [RCV000614969] |
Chr17:80110075 [GRCh38] Chr17:78083874 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2820G>A (p.Ser940=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380636]|Glycogen storage disease, type II [RCV001395863]|not specified [RCV000615088] |
Chr17:80119292 [GRCh38] Chr17:78093091 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.762G>A (p.Ser254=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395572]|Glycogen storage disease, type II [RCV000631108]|not provided [RCV001697548] |
Chr17:80107626 [GRCh38] Chr17:78081425 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000539677] |
Chr17:80112642 [GRCh38] Chr17:78086441 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-317C>T |
single nucleotide variant |
not specified [RCV000609813] |
Chr17:80101606 [GRCh38] Chr17:78075405 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.715C>T (p.Leu239=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002367776]|Glycogen storage disease, type II [RCV000540781] |
Chr17:80107579 [GRCh38] Chr17:78081378 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000541023] |
Chr17:80112099 [GRCh38] Chr17:78085898 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2025C>T (p.Asn675=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001459950]|not specified [RCV000615566] |
Chr17:80113012 [GRCh38] Chr17:78086811 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000625693] |
Chr17:80104810 [GRCh38] Chr17:78078609 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.780C>T (p.Leu260=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413749]|Glycogen storage disease, type II [RCV001423352]|not provided [RCV000908570]|not specified [RCV000607369] |
Chr17:80107644 [GRCh38] Chr17:78081443 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1324G>A (p.Val442Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000668689]|not provided [RCV000594193] |
Chr17:80108826 [GRCh38] Chr17:78082625 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1130del (p.Gly377fs) |
deletion |
Glycogen storage disease, type II [RCV001249090]|not provided [RCV000596780] |
Chr17:80108540 [GRCh38] Chr17:78082339 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1153del (p.Arg385fs) |
deletion |
Glycogen storage disease, type II [RCV001265228]|not provided [RCV000596835] |
Chr17:80108564 [GRCh38] Chr17:78082363 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.858+2T>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000586360] |
Chr17:80107724 [GRCh38] Chr17:78081523 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2799+19G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002062833]|not provided [RCV001704727] |
Chr17:80118824 [GRCh38] Chr17:78092623 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.2040+17G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002062834]|not specified [RCV000610426] |
Chr17:80113044 [GRCh38] Chr17:78086843 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT |
indel |
Glycogen storage disease, type II [RCV002498928]|not specified [RCV000610465] |
Chr17:80107730..80107732 [GRCh38] Chr17:78081529..78081531 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.-104C>T |
single nucleotide variant |
not specified [RCV000613262] |
Chr17:80101819 [GRCh38] Chr17:78075618 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.-32-5C>T |
single nucleotide variant |
not provided [RCV001712622] |
Chr17:80104550 [GRCh38] Chr17:78078349 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1803G>A (p.Ser601=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003159738]|Glycogen storage disease, type II [RCV000524831] |
Chr17:80112626 [GRCh38] Chr17:78086425 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1437+19G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002064308]|not specified [RCV000608166] |
Chr17:80110074 [GRCh38] Chr17:78083873 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404646]|Glycogen storage disease, type II [RCV001081315]|not provided [RCV000730586] |
Chr17:80111018 [GRCh38] Chr17:78084817 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1636+8C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000960396]|not specified [RCV000616783] |
Chr17:80111033 [GRCh38] Chr17:78084832 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000525570] |
Chr17:80104945 [GRCh38] Chr17:78078744 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003238171] |
Chr17:80117081 [GRCh38] Chr17:78090880 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.858+14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002065442]|not specified [RCV000608190] |
Chr17:80107736 [GRCh38] Chr17:78081535 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.31C>G (p.Arg11Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000527097] |
Chr17:80104617 [GRCh38] Chr17:78078416 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.687C>T (p.Arg229=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000527930]|not provided [RCV003144318] |
Chr17:80105889 [GRCh38] Chr17:78079688 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1872C>T (p.Leu624=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413699]|Glycogen storage disease, type II [RCV000960748]|not specified [RCV000611074] |
Chr17:80112695 [GRCh38] Chr17:78086494 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-4G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000528470]|not provided [RCV000732711] |
Chr17:80113214 [GRCh38] Chr17:78087013 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2800-15CT[3] |
microsatellite |
Glycogen storage disease, type II [RCV001580525]|not provided [RCV000732109]|not specified [RCV000608615] |
Chr17:80119257..80119258 [GRCh38] Chr17:78093056..78093057 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2154C>T (p.Val718=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000529944] |
Chr17:80113331 [GRCh38] Chr17:78087130 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.969G>T (p.Gln323His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000530125] |
Chr17:80108303 [GRCh38] Chr17:78082102 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.711G>A (p.Ala237=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002367775]|Glycogen storage disease, type II [RCV000530651]|not provided [RCV000591487] |
Chr17:80107575 [GRCh38] Chr17:78081374 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631084] |
Chr17:80109961 [GRCh38] Chr17:78083760 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631087]|not provided [RCV003129951] |
Chr17:80105118 [GRCh38] Chr17:78078917 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631054] |
Chr17:80112073 [GRCh38] Chr17:78085872 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2055C>T (p.Tyr685=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631100] |
Chr17:80113232 [GRCh38] Chr17:78087031 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000531988] |
Chr17:80104635 [GRCh38] Chr17:78078434 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.956-5_957del |
deletion |
Glycogen storage disease, type II [RCV003317708] |
Chr17:80108284..80108290 [GRCh38] Chr17:78082083..78082089 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2647-6G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631102] |
Chr17:80118647 [GRCh38] Chr17:78092446 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.36C>T (p.Leu12=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358756]|Glycogen storage disease, type II [RCV000631115] |
Chr17:80104622 [GRCh38] Chr17:78078421 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1438-9G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001087242]|not provided [RCV000727404]|not specified [RCV000594051] |
Chr17:80110718 [GRCh38] Chr17:78084517 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.212A>G (p.His71Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000660562]|not provided [RCV000597148] |
Chr17:80104798 [GRCh38] Chr17:78078597 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup) |
duplication |
Glycogen storage disease, type II [RCV000672252] |
Chr17:80112635..80112636 [GRCh38] Chr17:78086434..78086435 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000534401] |
Chr17:80118746 [GRCh38] Chr17:78092545 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000534884] |
Chr17:80117062 [GRCh38] Chr17:78090861 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2274C>T (p.Ala758=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448615]|Glycogen storage disease, type II [RCV000536270] |
Chr17:80117052 [GRCh38] Chr17:78090851 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000536776]|not provided [RCV003144319]|not specified [RCV003235274] |
Chr17:80107645 [GRCh38] Chr17:78081444 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2521A>G (p.Met841Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456048]|Glycogen storage disease, type II [RCV000536887] |
Chr17:80118232 [GRCh38] Chr17:78092031 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1438-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631061] |
Chr17:80110725 [GRCh38] Chr17:78084524 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2732C>T (p.Thr911Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631053] |
Chr17:80118738 [GRCh38] Chr17:78092537 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1743C>T (p.Ile581=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003302985]|Glycogen storage disease, type II [RCV000631101] |
Chr17:80112089 [GRCh38] Chr17:78085888 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.216C>T (p.Pro72=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001089244]|not provided [RCV000728964] |
Chr17:80104802 [GRCh38] Chr17:78078601 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1914G>A (p.Gly638=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631105] |
Chr17:80112901 [GRCh38] Chr17:78086700 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.393C>G (p.Pro131=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631116] |
Chr17:80104979 [GRCh38] Chr17:78078778 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1552-14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001123715]|not provided [RCV001704699]|not specified [RCV003230552] |
Chr17:80110927 [GRCh38] Chr17:78084726 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 17q25.3(chr17:78005894-78686171)x3 |
copy number gain |
See cases [RCV000512155] |
Chr17:78005894..78686171 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001854060]|not provided [RCV000596654] |
Chr17:80118251 [GRCh38] Chr17:78092050 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1692del (p.Leu565fs) |
deletion |
Glycogen storage disease, type II [RCV001265219]|Inborn genetic diseases [RCV000622656] |
Chr17:80112036 [GRCh38] Chr17:78085835 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NC_000017.11:g.(?_80104542)_(80105914_?)del |
deletion |
Glycogen storage disease, type II [RCV000631118] |
Chr17:80104542..80105914 [GRCh38] Chr17:78078341..78079713 [GRCh37] Chr17:17q25.3 |
pathogenic |
NC_000017.11:g.(?_80107537)_(80113386_?)del |
deletion |
Glycogen storage disease, type II [RCV000631119] |
Chr17:80107537..80113386 [GRCh38] Chr17:78081336..78087185 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NC_000017.10:g.(?_78078341)_(78093150_?)dup |
duplication |
Glycogen storage disease, type II [RCV000631120] |
Chr17:80104542..80119351 [GRCh38] Chr17:78078341..78093150 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1075+20C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002064156]|not specified [RCV000600772] |
Chr17:80108429 [GRCh38] Chr17:78082228 [GRCh37] Chr17:17q25.3 |
likely benign |
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 |
copy number gain |
See cases [RCV000512573] |
Chr17:67002415..81041938 [GRCh37] Chr17:17q24.2-25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_000152.5(GAA):c.319G>A (p.Gly107Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631079] |
Chr17:80104905 [GRCh38] Chr17:78078704 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.93_95del (p.Leu32del) |
deletion |
Glycogen storage disease, type II [RCV000631080] |
Chr17:80104677..80104679 [GRCh38] Chr17:78078476..78078478 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2761G>T (p.Val921Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631088] |
Chr17:80118767 [GRCh38] Chr17:78092566 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631089] |
Chr17:80117001 [GRCh38] Chr17:78090800 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000631093]|not provided [RCV003133417] |
Chr17:80113227 [GRCh38] Chr17:78087026 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.716del (p.Leu239fs) |
deletion |
Glycogen storage disease, type II [RCV000672913]|not provided [RCV003140072] |
Chr17:80107580 [GRCh38] Chr17:78081379 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2799+2C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000673050] |
Chr17:80118807 [GRCh38] Chr17:78092606 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1888+49_1888+72del |
deletion |
Glycogen storage disease, type II [RCV000673185] |
Chr17:80112758..80112781 [GRCh38] Chr17:78086557..78086580 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001379709]|not provided [RCV000658795] |
Chr17:80112990 [GRCh38] Chr17:78086789 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.376del (p.Trp126fs) |
deletion |
Glycogen storage disease, type II [RCV000672759] |
Chr17:80104962 [GRCh38] Chr17:78078761 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2757del (p.Asn919fs) |
deletion |
Glycogen storage disease, type II [RCV000664646] |
Chr17:80118763 [GRCh38] Chr17:78092562 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2040+1del |
deletion |
Glycogen storage disease, type II [RCV000664763] |
Chr17:80113027 [GRCh38] Chr17:78086826 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1551+1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000670717]|not provided [RCV001784264] |
Chr17:80110841 [GRCh38] Chr17:78084640 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000672501] |
Chr17:80118752 [GRCh38] Chr17:78092551 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.768dup (p.Ile257fs) |
duplication |
Glycogen storage disease, type II [RCV000672554] |
Chr17:80107631..80107632 [GRCh38] Chr17:78081430..78081431 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1888+51_1888+74del |
deletion |
Glycogen storage disease, type II [RCV000671181] |
Chr17:80112761..80112784 [GRCh38] Chr17:78086560..78086583 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.-32-1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000673571] |
Chr17:80104554 [GRCh38] Chr17:78078353 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000671579]|not provided [RCV001547359]|not specified [RCV002265849] |
Chr17:80117098 [GRCh38] Chr17:78090897 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1551+1G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000671915] |
Chr17:80110841 [GRCh38] Chr17:78084640 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000665079]|not provided [RCV002289951] |
Chr17:80108323 [GRCh38] Chr17:78082122 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2040+69A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000667068] |
Chr17:80113096 [GRCh38] Chr17:78086895 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.379_380del (p.Cys127fs) |
deletion |
Glycogen storage disease, type II [RCV000668069]|not provided [RCV000731154] |
Chr17:80104964..80104965 [GRCh38] Chr17:78078763..78078764 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000670915]|not provided [RCV001784266] |
Chr17:80112056 [GRCh38] Chr17:78085855 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3]) |
microsatellite |
Glycogen storage disease, type II [RCV000665533] |
Chr17:80104976..80104977 [GRCh38] Chr17:78078775..78078776 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000668178] |
Chr17:80119325 [GRCh38] Chr17:78093124 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000671598]|not provided [RCV003140070] |
Chr17:80113351 [GRCh38] Chr17:78087150 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1437+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000671773]|not provided [RCV001592852] |
Chr17:80110056 [GRCh38] Chr17:78083855 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000665680] |
Chr17:80112680 [GRCh38] Chr17:78086479 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2853del (p.Trp951fs) |
deletion |
Glycogen storage disease, type II [RCV000668505] |
Chr17:80119324 [GRCh38] Chr17:78093123 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2189+1G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000674456] |
Chr17:80113367 [GRCh38] Chr17:78087166 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000666923]|not provided [RCV003144469] |
Chr17:80112594 [GRCh38] Chr17:78086393 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) |
deletion |
Glycogen storage disease, type II [RCV000672761] |
Chr17:80113312..80113313 [GRCh38] Chr17:78087111..78087112 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) |
duplication |
Glycogen storage disease, type II [RCV000673060] |
Chr17:80109947..80109948 [GRCh38] Chr17:78083746..78083747 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1076-1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000666182] |
Chr17:80108488 [GRCh38] Chr17:78082287 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000673492] |
Chr17:80104827 [GRCh38] Chr17:78078626 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.692+2T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000669406] |
Chr17:80105896 [GRCh38] Chr17:78079695 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2706del (p.Lys903fs) |
deletion |
Glycogen storage disease, type II [RCV000669955] |
Chr17:80118712 [GRCh38] Chr17:78092511 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1165del (p.Glu389fs) |
deletion |
Glycogen storage disease, type II [RCV000673856] |
Chr17:80108577 [GRCh38] Chr17:78082376 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000667333] |
Chr17:80119331 [GRCh38] Chr17:78093130 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) |
deletion |
Glycogen storage disease, type II [RCV000667381] |
Chr17:80113224..80113241 [GRCh38] Chr17:78087023..78087040 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.533G>A (p.Arg178His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000670700]|not provided [RCV003129985]|not specified [RCV001805792] |
Chr17:80105119 [GRCh38] Chr17:78078918 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2647-20T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000671068]|not provided [RCV001816675] |
Chr17:80118633 [GRCh38] Chr17:78092432 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2617dup (p.Tyr873fs) |
duplication |
Glycogen storage disease, type II [RCV000665233] |
Chr17:80118327..80118328 [GRCh38] Chr17:78092126..78092127 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.55del (p.Val19fs) |
deletion |
Glycogen storage disease, type II [RCV000670780] |
Chr17:80104641 [GRCh38] Chr17:78078440 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000667612]|not provided [RCV001784249] |
Chr17:80117675 [GRCh38] Chr17:78091474 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000670955] |
Chr17:80119330 [GRCh38] Chr17:78093129 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2300del (p.Phe767fs) |
deletion |
Glycogen storage disease, type II [RCV000671142]|not provided [RCV003140068] |
Chr17:80117077 [GRCh38] Chr17:78090876 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000667808] |
Chr17:80117092 [GRCh38] Chr17:78090891 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000673032] |
Chr17:80110785 [GRCh38] Chr17:78084584 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000666112] |
Chr17:80118750 [GRCh38] Chr17:78092549 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) |
deletion |
Glycogen storage disease, type II [RCV000666330] |
Chr17:80105043..80105048 [GRCh38] Chr17:78078842..78078847 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000671718]|not provided [RCV001785699] |
Chr17:80108512 [GRCh38] Chr17:78082311 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) |
deletion |
Glycogen storage disease, type II [RCV000667968] |
Chr17:80108744..80108746 [GRCh38] Chr17:78082543..78082545 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2040+16C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000668010] |
Chr17:80113043 [GRCh38] Chr17:78086842 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000668100] |
Chr17:80108718 [GRCh38] Chr17:78082517 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del) |
deletion |
Glycogen storage disease, type II [RCV000668186] |
Chr17:80105832..80105843 [GRCh38] Chr17:78079631..78079642 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1048G>A (p.Val350Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000671932]|not provided [RCV001576168]|not specified [RCV002307586] |
Chr17:80108382 [GRCh38] Chr17:78082181 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000672072]|not provided [RCV001549927] |
Chr17:80107660 [GRCh38] Chr17:78081459 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2482-5T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000674569] |
Chr17:80118188 [GRCh38] Chr17:78091987 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2647-7G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000666077]|not provided [RCV001816669] |
Chr17:80118646 [GRCh38] Chr17:78092445 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) |
microsatellite |
Glycogen storage disease, type II [RCV000674654]|not provided [RCV002223239] |
Chr17:80107572..80107573 [GRCh38] Chr17:78081371..78081372 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000666316] |
Chr17:80110050 [GRCh38] Chr17:78083849 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2367dup (p.Pro790fs) |
duplication |
Glycogen storage disease, type II [RCV000674863] |
Chr17:80117634..80117635 [GRCh38] Chr17:78091433..78091434 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000674901]|not provided [RCV001507903] |
Chr17:80112965 [GRCh38] Chr17:78086764 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000674934] |
Chr17:80112015 [GRCh38] Chr17:78085814 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000665730] |
Chr17:80108782 [GRCh38] Chr17:78082581 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000672437]|not provided [RCV001784273] |
Chr17:80117014 [GRCh38] Chr17:78090813 [GRCh37] Chr17:17q25.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2190-29G>A |
single nucleotide variant |
not provided [RCV000675241] |
Chr17:80116939 [GRCh38] Chr17:78090738 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.953T>A (p.Met318Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000675007] |
Chr17:80107894 [GRCh38] Chr17:78081693 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.421C>A (p.Leu141Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000665131] |
Chr17:80105007 [GRCh38] Chr17:78078806 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC |
insertion |
Glycogen storage disease, type II [RCV000672843] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+5G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000673997]|not provided [RCV003140073] |
Chr17:80105137 [GRCh38] Chr17:78078936 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1195-1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000664532] |
Chr17:80108696 [GRCh38] Chr17:78082495 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1552-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000664623] |
Chr17:80110939 [GRCh38] Chr17:78084738 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.448dup (p.Ala150fs) |
duplication |
Glycogen storage disease, type II [RCV000666612] |
Chr17:80105032..80105033 [GRCh38] Chr17:78078831..78078832 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000665881] |
Chr17:80112607 [GRCh38] Chr17:78086406 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.258del (p.Asn87fs) |
deletion |
Glycogen storage disease, type II [RCV000666694] |
Chr17:80104838 [GRCh38] Chr17:78078637 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) |
insertion |
Glycogen storage disease, type II [RCV000664743] |
Chr17:80107630..80107631 [GRCh38] Chr17:78081429..78081430 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1754+21C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000664749] |
Chr17:80112121 [GRCh38] Chr17:78085920 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000673414] |
Chr17:80118295 [GRCh38] Chr17:78092094 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000666389] |
Chr17:80108542 [GRCh38] Chr17:78082341 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) |
duplication |
Glycogen storage disease, type II [RCV000667384] |
Chr17:80108793..80108794 [GRCh38] Chr17:78082592..78082593 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2647-23del |
deletion |
Glycogen storage disease, type II [RCV000673541] |
Chr17:80118627 [GRCh38] Chr17:78092426 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2161dup (p.Glu721fs) |
duplication |
Glycogen storage disease, type II [RCV000664981] |
Chr17:80113333..80113334 [GRCh38] Chr17:78087132..78087133 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000665047]|not provided [RCV001557095] |
Chr17:80112928 [GRCh38] Chr17:78086727 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000666648]|not provided [RCV001784239] |
Chr17:80112619 [GRCh38] Chr17:78086418 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000667659]|not provided [RCV001756129] |
Chr17:80113222 [GRCh38] Chr17:78087021 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) |
deletion |
Glycogen storage disease, type II [RCV000667802] |
Chr17:80119283..80119291 [GRCh38] Chr17:78093082..78093090 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) |
single nucleotide variant |
Elevated circulating creatine kinase concentration [RCV000678477]|Glycogen storage disease, type II [RCV001200874] |
Chr17:80104590 [GRCh38] Chr17:78078389 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 |
copy number gain |
not provided [RCV000683952] |
Chr17:63689671..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 |
copy number gain |
not provided [RCV000683965] |
Chr17:76552611..81041938 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000701656]|not provided [RCV001091540] |
Chr17:80118668 [GRCh38] Chr17:78092467 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1552-14_1552-1del |
deletion |
Glycogen storage disease, type II [RCV000701657] |
Chr17:80110923..80110936 [GRCh38] Chr17:78084722..78084735 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.109C>G (p.Leu37Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000702245]|not provided [RCV001556663] |
Chr17:80104695 [GRCh38] Chr17:78078494 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1882G>A (p.Val628Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000699355] |
Chr17:80112705 [GRCh38] Chr17:78086504 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000685442] |
Chr17:80105038 [GRCh38] Chr17:78078837 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV003163099]|Glycogen storage disease, type II [RCV000685783]|not provided [RCV001541770] |
Chr17:80108700 [GRCh38] Chr17:78082499 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000704081] |
Chr17:80117726 [GRCh38] Chr17:78091525 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000692691]|not provided [RCV003144518]|not specified [RCV002469262] |
Chr17:80116999 [GRCh38] Chr17:78090798 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000704659]|not provided [RCV001759411] |
Chr17:80118216 [GRCh38] Chr17:78092015 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1631T>A (p.Val544Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000690547] |
Chr17:80111020 [GRCh38] Chr17:78084819 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1195-8G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000691563] |
Chr17:80108689 [GRCh38] Chr17:78082488 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2330_2331+4dup |
duplication |
Glycogen storage disease, type II [RCV000705785]|not provided [RCV001592906] |
Chr17:80117105..80117106 [GRCh38] Chr17:78090904..78090905 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1194+6T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000691888] |
Chr17:80108613 [GRCh38] Chr17:78082412 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000700164] |
Chr17:80113356 [GRCh38] Chr17:78087155 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.43G>A (p.Val15Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000706241] |
Chr17:80104629 [GRCh38] Chr17:78078428 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1372T>C (p.Tyr458His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000686125] |
Chr17:80109990 [GRCh38] Chr17:78083789 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.223C>T (p.Pro75Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000687301] |
Chr17:80104809 [GRCh38] Chr17:78078608 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2190-10C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000703929] |
Chr17:80116958 [GRCh38] Chr17:78090757 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000697549]|not provided [RCV003144541] |
Chr17:80108566 [GRCh38] Chr17:78082365 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000687635] |
Chr17:80105851 [GRCh38] Chr17:78079650 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.229G>T (p.Ala77Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000704307] |
Chr17:80104815 [GRCh38] Chr17:78078614 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165928]|Glycogen storage disease, type II [RCV000707045]|not provided [RCV001766565] |
Chr17:80107609 [GRCh38] Chr17:78081408 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000707519] |
Chr17:80112983 [GRCh38] Chr17:78086782 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.250G>A (p.Val84Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000695540]|not provided [RCV000731464] |
Chr17:80104836 [GRCh38] Chr17:78078635 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2381G>A (p.Arg794His) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380677]|Glycogen storage disease, type II [RCV000688330]|not provided [RCV003144494] |
Chr17:80117649 [GRCh38] Chr17:78091448 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000690873] |
Chr17:80104663 [GRCh38] Chr17:78078462 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2799+2C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000695885]|not provided [RCV003144532] |
Chr17:80118807 [GRCh38] Chr17:78092606 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000688791] |
Chr17:80113317 [GRCh38] Chr17:78087116 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000693838] |
Chr17:80112934 [GRCh38] Chr17:78086733 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000688844]|not provided [RCV001570772] |
Chr17:80104872 [GRCh38] Chr17:78078671 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2331G>A (p.Thr777=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000696307]|not provided [RCV001531869] |
Chr17:80117109 [GRCh38] Chr17:78090908 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000698352] |
Chr17:80107661 [GRCh38] Chr17:78081460 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1124G>A (p.Arg375His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000694178]|not provided [RCV001507901] |
Chr17:80108537 [GRCh38] Chr17:78082336 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.309C>T (p.Cys103=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000700064] |
Chr17:80104895 [GRCh38] Chr17:78078694 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000703411]|not provided [RCV003144561] |
Chr17:80108527 [GRCh38] Chr17:78082326 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000694467] |
Chr17:80118226 [GRCh38] Chr17:78092025 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.858G>A (p.Thr286=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000694477] |
Chr17:80107722 [GRCh38] Chr17:78081521 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000703619] |
Chr17:80113359 [GRCh38] Chr17:78087158 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2690C>G (p.Ala897Gly) |
single nucleotide variant |
not provided [RCV001545612] |
Chr17:80118696 [GRCh38] Chr17:78092495 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_000152.5(GAA):c.1069G>A (p.Val357Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002568905]|not provided [RCV001532361] |
Chr17:80108403 [GRCh38] Chr17:78082202 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1662G>A (p.Ala554=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390906]|Glycogen storage disease, type II [RCV000916062] |
Chr17:80112008 [GRCh38] Chr17:78085807 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1500G>A (p.Glu500=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000871762] |
Chr17:80110789 [GRCh38] Chr17:78084588 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.692+38C>T |
single nucleotide variant |
not provided [RCV001678966] |
Chr17:80105932 [GRCh38] Chr17:78079731 [GRCh37] Chr17:17q25.3 |
benign |
NC_000017.11:g.80101429C>T |
single nucleotide variant |
not provided [RCV001534429] |
Chr17:80101429 [GRCh38] Chr17:78075228 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.765G>A (p.Gln255=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001404279] |
Chr17:80107629 [GRCh38] Chr17:78081428 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.42C>G (p.Ala14=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001408332] |
Chr17:80104628 [GRCh38] Chr17:78078427 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.956-84C>T |
single nucleotide variant |
not provided [RCV001666611] |
Chr17:80108206 [GRCh38] Chr17:78082005 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2482-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001582397] |
Chr17:80118191 [GRCh38] Chr17:78091990 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2799+5G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003307394] |
Chr17:80118810 [GRCh38] Chr17:78092609 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.118C>G (p.Arg40Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001043854] |
Chr17:80104704 [GRCh38] Chr17:78078503 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del) |
deletion |
Glycogen storage disease, type II [RCV003238172] |
Chr17:80112695..80112703 [GRCh38] Chr17:78086494..78086502 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.701C>T (p.Thr234Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001832749]|not provided [RCV001551208] |
Chr17:80107565 [GRCh38] Chr17:78081364 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000855786]|not provided [RCV002223962] |
Chr17:80108606 [GRCh38] Chr17:78082405 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1195-2A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001044684] |
Chr17:80108695 [GRCh38] Chr17:78082494 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1637-138C>T |
single nucleotide variant |
not provided [RCV001549966] |
Chr17:80111845 [GRCh38] Chr17:78085644 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1806C>A (p.Thr602=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000927937] |
Chr17:80112629 [GRCh38] Chr17:78086428 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.966G>A (p.Leu322=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001432412] |
Chr17:80108300 [GRCh38] Chr17:78082099 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.924C>T (p.His308=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001502256] |
Chr17:80107865 [GRCh38] Chr17:78081664 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1068C>T (p.Asp356=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409280]|Glycogen storage disease, type II [RCV000964679] |
Chr17:80108402 [GRCh38] Chr17:78082201 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1977G>A (p.Val659=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416162]|Glycogen storage disease, type II [RCV001448415] |
Chr17:80112964 [GRCh38] Chr17:78086763 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1041C>T (p.Pro347=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000944197] |
Chr17:80108375 [GRCh38] Chr17:78082174 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1053G>A (p.Val351=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001273036]|not provided [RCV000926127] |
Chr17:80108387 [GRCh38] Chr17:78082186 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.546+7A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000929040] |
Chr17:80105139 [GRCh38] Chr17:78078938 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.252C>T (p.Val84=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427254]|Glycogen storage disease, type II [RCV000898789] |
Chr17:80104838 [GRCh38] Chr17:78078637 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1518C>T (p.Phe506=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000983543] |
Chr17:80110807 [GRCh38] Chr17:78084606 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1491C>T (p.Ala497=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001422089] |
Chr17:80110780 [GRCh38] Chr17:78084579 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2754C>A (p.Ser918=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000983774] |
Chr17:80118760 [GRCh38] Chr17:78092559 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001056322] |
Chr17:80113251 [GRCh38] Chr17:78087050 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1754+1_1754+7del |
deletion |
Glycogen storage disease, type II [RCV001055165] |
Chr17:80112100..80112106 [GRCh38] Chr17:78085899..78085905 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2332-40C>G |
single nucleotide variant |
not provided [RCV001581677] |
Chr17:80117560 [GRCh38] Chr17:78091359 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001041506] |
Chr17:80108593 [GRCh38] Chr17:78082392 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001058639]|not provided [RCV003145315] |
Chr17:80110957 [GRCh38] Chr17:78084756 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.956-8C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001071307] |
Chr17:80108282 [GRCh38] Chr17:78082081 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001049991] |
Chr17:80110028 [GRCh38] Chr17:78083827 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2307G>A (p.Leu769=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001052656] |
Chr17:80117085 [GRCh38] Chr17:78090884 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.280C>A (p.Pro94Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001042908]|not provided [RCV003132157] |
Chr17:80104866 [GRCh38] Chr17:78078665 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1377dup (p.Glu460fs) |
duplication |
Glycogen storage disease, type II [RCV001037604]|not provided [RCV001784574] |
Chr17:80109994..80109995 [GRCh38] Chr17:78083793..78083794 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.311_313del (p.Glu104del) |
deletion |
Glycogen storage disease, type II [RCV001048776] |
Chr17:80104896..80104898 [GRCh38] Chr17:78078695..78078697 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.8T>C (p.Val3Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001038315] |
Chr17:80104594 [GRCh38] Chr17:78078393 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1650dup (p.Thr551fs) |
duplication |
Glycogen storage disease, type II [RCV001057872]|not provided [RCV001784610] |
Chr17:80111990..80111991 [GRCh38] Chr17:78085789..78085790 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1952del (p.Gly651fs) |
deletion |
Glycogen storage disease, type II [RCV000780269]|not provided [RCV001784393] |
Chr17:80112937 [GRCh38] Chr17:78086736 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1431del (p.Ile477fs) |
deletion |
Glycogen storage disease, type II [RCV000855787] |
Chr17:80110048 [GRCh38] Chr17:78083847 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.858+24G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000791247] |
Chr17:80107746 [GRCh38] Chr17:78081545 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1952G>T (p.Gly651Val) |
single nucleotide variant |
not specified [RCV000781389] |
Chr17:80112939 [GRCh38] Chr17:78086738 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.148_859-11del |
deletion |
Glycogen storage disease, type II [RCV000781388] |
Chr17:80104729..80107784 [GRCh38] Chr17:78078528..78081583 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1327-229_1327-224del |
microsatellite |
not provided [RCV000841622] |
Chr17:80109706..80109711 [GRCh38] Chr17:78083505..78083510 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.-103G>A |
single nucleotide variant |
not provided [RCV000828028] |
Chr17:80101820 [GRCh38] Chr17:78075619 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1800C>T (p.Arg600=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001430514] |
Chr17:80112623 [GRCh38] Chr17:78086422 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.936G>T (p.Leu312=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002066464] |
Chr17:80107877 [GRCh38] Chr17:78081676 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2430C>G (p.Pro810=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454223]|Glycogen storage disease, type II [RCV000980479]|not provided [RCV003424515] |
Chr17:80117698 [GRCh38] Chr17:78091497 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2332-5T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001495404] |
Chr17:80117595 [GRCh38] Chr17:78091394 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000928261] |
Chr17:80112650 [GRCh38] Chr17:78086449 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1438-10C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000920849] |
Chr17:80110717 [GRCh38] Chr17:78084516 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1818C>T (p.His606=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409121]|Glycogen storage disease, type II [RCV000878382] |
Chr17:80112641 [GRCh38] Chr17:78086440 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.999A>G (p.Thr333=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001492310] |
Chr17:80108333 [GRCh38] Chr17:78082132 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-8C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001469816] |
Chr17:80109937 [GRCh38] Chr17:78083736 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1005G>A (p.Gly335=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001475142] |
Chr17:80108339 [GRCh38] Chr17:78082138 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.693-5C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000873973]|not provided [RCV003145216] |
Chr17:80107552 [GRCh38] Chr17:78081351 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1636+9G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000874427] |
Chr17:80111034 [GRCh38] Chr17:78084833 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1059G>A (p.Gln353=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001403764] |
Chr17:80108393 [GRCh38] Chr17:78082192 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2196C>A (p.Pro732=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427356]|Glycogen storage disease, type II [RCV001421651] |
Chr17:80116974 [GRCh38] Chr17:78090773 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+7T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001395356] |
Chr17:80111032 [GRCh38] Chr17:78084831 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2154C>G (p.Val718=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000924672] |
Chr17:80113331 [GRCh38] Chr17:78087130 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+10C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV000876864] |
Chr17:80107732 [GRCh38] Chr17:78081531 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1170C>T (p.Asn390=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001469788] |
Chr17:80108583 [GRCh38] Chr17:78082382 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2799+10C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001403808] |
Chr17:80118815 [GRCh38] Chr17:78092614 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1803G>T (p.Ser601=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001400140] |
Chr17:80112626 [GRCh38] Chr17:78086425 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1195-19_2190-17del |
deletion |
Glycogen storage disease, type II [RCV000780267] |
Chr17:80108677..80116950 [GRCh38] Chr17:78082476..78090749 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) |
indel |
Glycogen storage disease, type II [RCV000781390]|not provided [RCV001784394] |
Chr17:80112938..80112939 [GRCh38] Chr17:78086737..78086738 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000780271] |
Chr17:80112892 [GRCh38] Chr17:78086691 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000799233] |
Chr17:80118199 [GRCh38] Chr17:78091998 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2040+4G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000815688] |
Chr17:80113031 [GRCh38] Chr17:78086830 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000813860] |
Chr17:80110990 [GRCh38] Chr17:78084789 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000796710] |
Chr17:80111014 [GRCh38] Chr17:78084813 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2481+5C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV000806449] |
Chr17:80117754 [GRCh38] Chr17:78091553 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000817631]|not provided [RCV003141841]|not specified [RCV003323733] |
Chr17:80110983 [GRCh38] Chr17:78084782 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2672G>A (p.Arg891His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000810426]|not provided [RCV003145164] |
Chr17:80118678 [GRCh38] Chr17:78092477 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000810454] |
Chr17:80104862 [GRCh38] Chr17:78078661 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.55G>A (p.Val19Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345852]|Glycogen storage disease, type II [RCV000813668] |
Chr17:80104641 [GRCh38] Chr17:78078440 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000799681] |
Chr17:80110974 [GRCh38] Chr17:78084773 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000823699] |
Chr17:80118794 [GRCh38] Chr17:78092593 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000813939]|not provided [RCV001563037] |
Chr17:80108712 [GRCh38] Chr17:78082511 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.547-243C>G |
single nucleotide variant |
not provided [RCV000840011] |
Chr17:80105506 [GRCh38] Chr17:78079305 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.547-238T>C |
single nucleotide variant |
not provided [RCV000840014] |
Chr17:80105511 [GRCh38] Chr17:78079310 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.693-216T>C |
single nucleotide variant |
not provided [RCV000840016] |
Chr17:80107341 [GRCh38] Chr17:78081140 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1327-179G>A |
single nucleotide variant |
not provided [RCV000840021] |
Chr17:80109766 [GRCh38] Chr17:78083565 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1438-220A>G |
single nucleotide variant |
not provided [RCV000840022] |
Chr17:80110507 [GRCh38] Chr17:78084306 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2800-227C>T |
single nucleotide variant |
not provided [RCV000840024] |
Chr17:80119045 [GRCh38] Chr17:78092844 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000824371] |
Chr17:80118678 [GRCh38] Chr17:78092477 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000791246] |
Chr17:80107817 [GRCh38] Chr17:78081616 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000791250] |
Chr17:80110827 [GRCh38] Chr17:78084626 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.625T>C (p.Tyr209His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000798227]|not provided [RCV003144607] |
Chr17:80105827 [GRCh38] Chr17:78079626 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.631G>A (p.Val211Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000808335]|not provided [RCV001566572] |
Chr17:80105833 [GRCh38] Chr17:78079632 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.830C>T (p.Thr277Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000810832] |
Chr17:80107694 [GRCh38] Chr17:78081493 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.546+293G>A |
single nucleotide variant |
not provided [RCV000840391] |
Chr17:80105425 [GRCh38] Chr17:78079224 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1327-269A>G |
single nucleotide variant |
not provided [RCV000840392] |
Chr17:80109676 [GRCh38] Chr17:78083475 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2189+263G>A |
single nucleotide variant |
not provided [RCV000840393] |
Chr17:80113629 [GRCh38] Chr17:78087428 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000821867] |
Chr17:80112928 [GRCh38] Chr17:78086727 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NC_000017.11:g.(?_80118183)_(80118367_?)del |
deletion |
Glycogen storage disease, type II [RCV000803277] |
Chr17:80118183..80118367 [GRCh38] Chr17:78091982..78092166 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000820272]|not specified [RCV001805898] |
Chr17:80112603 [GRCh38] Chr17:78086402 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.566G>A (p.Arg189Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000820308] |
Chr17:80105768 [GRCh38] Chr17:78079567 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1103G>T (p.Gly368Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000796295] |
Chr17:80108516 [GRCh38] Chr17:78082315 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1754+6G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000795360] |
Chr17:80112106 [GRCh38] Chr17:78085905 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.859-3C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000800450] |
Chr17:80107797 [GRCh38] Chr17:78081596 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2482-18G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002067526]|not provided [RCV000840748] |
Chr17:80118175 [GRCh38] Chr17:78091974 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000799069]|not provided [RCV001759517] |
Chr17:80105845 [GRCh38] Chr17:78079644 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.514A>G (p.Met172Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000800653] |
Chr17:80105100 [GRCh38] Chr17:78078899 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys) |
indel |
Glycogen storage disease, type II [RCV000813141] |
Chr17:80113234..80113235 [GRCh38] Chr17:78087033..78087034 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) |
single nucleotide variant |
GAA-related condition [RCV003396382]|Glycogen storage disease, type II [RCV000796146]|not provided [RCV001507900] |
Chr17:80107589 [GRCh38] Chr17:78081388 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000804269]|not provided [RCV001784424] |
Chr17:80117651 [GRCh38] Chr17:78091450 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.855C>A (p.Pro285=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169246]|Glycogen storage disease, type II [RCV000893179]|not provided [RCV001566624] |
Chr17:80107719 [GRCh38] Chr17:78081518 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.806_830del (p.Leu269fs) |
deletion |
Glycogen storage disease, type II [RCV000812485] |
Chr17:80107669..80107693 [GRCh38] Chr17:78081468..78081492 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000820088] |
Chr17:80117657 [GRCh38] Chr17:78091456 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-9T>C |
single nucleotide variant |
not provided [RCV000831399] |
Chr17:80104578 [GRCh38] Chr17:78078377 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000820224] |
Chr17:80112930 [GRCh38] Chr17:78086729 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NC_000017.11:g.80107508C>T |
single nucleotide variant |
not provided [RCV000835677] |
Chr17:78081307 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000823451]|not provided [RCV003145210] |
Chr17:80105034 [GRCh38] Chr17:78078833 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.704C>T (p.Thr235Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000813790]|not provided [RCV001090257] |
Chr17:80107568 [GRCh38] Chr17:78081367 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2481+110_2646+39del |
deletion |
Glycogen storage disease, type II [RCV000813887]|not provided [RCV001784437] |
Chr17:80117851..80118388 [GRCh38] Chr17:78091650..78092187 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000791248] |
Chr17:80112882 [GRCh38] Chr17:78086681 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000821231] |
Chr17:80118352 [GRCh38] Chr17:78092151 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.2332-198A>T |
single nucleotide variant |
not provided [RCV000840012] |
Chr17:80117402 [GRCh38] Chr17:78091201 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.686G>C (p.Arg229Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000794616] |
Chr17:80105888 [GRCh38] Chr17:78079687 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1438-1G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV000818785]|not provided [RCV001785729] |
Chr17:80110726 [GRCh38] Chr17:78084525 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.851C>T (p.Ala284Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000821904]|not provided [RCV003424362] |
Chr17:80107715 [GRCh38] Chr17:78081514 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.209C>A (p.Ala70Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000794900] |
Chr17:80104795 [GRCh38] Chr17:78078594 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.503G>C (p.Arg168Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000792831] |
Chr17:80105089 [GRCh38] Chr17:78078888 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2156C>T (p.Ala719Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000792975] |
Chr17:80113333 [GRCh38] Chr17:78087132 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000811403] |
Chr17:80110049 [GRCh38] Chr17:78083848 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1636+210G>A |
single nucleotide variant |
not provided [RCV000829676] |
Chr17:80111235 [GRCh38] Chr17:78085034 [GRCh37] Chr17:17q25.3 |
benign |
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 |
copy number gain |
not provided [RCV000849900] |
Chr17:62778720..81041938 [GRCh37] Chr17:17q24.1-25.3 |
pathogenic |
NM_000152.5(GAA):c.859C>T (p.Pro287Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000811726] |
Chr17:80107800 [GRCh38] Chr17:78081599 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001044804] |
Chr17:80112696 [GRCh38] Chr17:78086495 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1426C>A (p.Leu476Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000810435] |
Chr17:80110044 [GRCh38] Chr17:78083843 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001046639]|not provided [RCV003141970] |
Chr17:80108546 [GRCh38] Chr17:78082345 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000794042]|not provided [RCV001784410] |
Chr17:80112621 [GRCh38] Chr17:78086420 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs) |
insertion |
Glycogen storage disease, type II [RCV000791249] |
Chr17:80108728..80108729 [GRCh38] Chr17:78082527..78082528 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.826A>G (p.Ile276Val) |
single nucleotide variant |
not provided [RCV001090258] |
Chr17:80107690 [GRCh38] Chr17:78081489 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2101C>T (p.Leu701=) |
single nucleotide variant |
not provided [RCV000826941] |
Chr17:80113278 [GRCh38] Chr17:78087077 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1275G>A (p.Pro425=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372343]|Glycogen storage disease, type II [RCV000821247] |
Chr17:80108777 [GRCh38] Chr17:78082576 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000821318]|Inborn genetic diseases [RCV002537500]|not provided [RCV002290469] |
Chr17:80118309 [GRCh38] Chr17:78092108 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.487G>A (p.Asp163Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000810395] |
Chr17:80105073 [GRCh38] Chr17:78078872 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000805172]|not provided [RCV001766674] |
Chr17:80108731 [GRCh38] Chr17:78082530 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1888+8C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001432765] |
Chr17:80112719 [GRCh38] Chr17:78086518 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.918G>A (p.Ser306=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372301]|Glycogen storage disease, type II [RCV000815515] |
Chr17:80107859 [GRCh38] Chr17:78081658 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.-32-181C>T |
single nucleotide variant |
not provided [RCV000837183] |
Chr17:80104374 [GRCh38] Chr17:78078173 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.17C>A (p.Pro6Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000805680] |
Chr17:80104603 [GRCh38] Chr17:78078402 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-18T>A |
single nucleotide variant |
not provided [RCV000831153] |
Chr17:80104569 [GRCh38] Chr17:78078368 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000799395]|not provided [RCV003141792] |
Chr17:80105770 [GRCh38] Chr17:78079569 [GRCh37] Chr17:17q25.3 |
pathogenic|uncertain significance |
NM_000152.5(GAA):c.1439T>C (p.Val480Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000818942] |
Chr17:80110728 [GRCh38] Chr17:78084527 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) |
indel |
Glycogen storage disease, type II [RCV000822287] |
Chr17:80111018..80111019 [GRCh38] Chr17:78084817..78084818 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000822702]|not provided [RCV001784455] |
Chr17:80105873 [GRCh38] Chr17:78079672 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.754C>T (p.Leu252=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001482903] |
Chr17:80107618 [GRCh38] Chr17:78081417 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.347G>T (p.Gly116Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336599]|Glycogen storage disease, type II [RCV000799963] |
Chr17:80104933 [GRCh38] Chr17:78078732 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2122C>A (p.His708Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000811333] |
Chr17:80113299 [GRCh38] Chr17:78087098 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_78078341)_(78093140_?)dup |
duplication |
Glycogen storage disease, type II [RCV000801990] |
Chr17:80104542..80119341 [GRCh38] Chr17:78078341..78093140 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.205C>G (p.Gln69Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000816652] |
Chr17:80104791 [GRCh38] Chr17:78078590 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000814062]|not provided [RCV002259372] |
Chr17:80108734 [GRCh38] Chr17:78082533 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000814412] |
Chr17:80110024 [GRCh38] Chr17:78083823 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2190-286G>A |
single nucleotide variant |
not provided [RCV000832641] |
Chr17:80116682 [GRCh38] Chr17:78090481 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.686G>A (p.Arg229His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000817672]|not provided [RCV003132095] |
Chr17:80105888 [GRCh38] Chr17:78079687 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs) |
duplication |
Glycogen storage disease, type II [RCV001067646] |
Chr17:80109963..80109964 [GRCh38] Chr17:78083762..78083763 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001046352] |
Chr17:80110008 [GRCh38] Chr17:78083807 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) |
indel |
Glycogen storage disease, type II [RCV000985050] |
Chr17:80108545..80108549 [GRCh38] Chr17:78082344..78082348 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.502C>T (p.Arg168Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001044499]|not provided [RCV001759959] |
Chr17:80105088 [GRCh38] Chr17:78078887 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001044803]|not provided [RCV003141965] |
Chr17:80112694 [GRCh38] Chr17:78086493 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.328T>C (p.Tyr110His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001068535] |
Chr17:80104914 [GRCh38] Chr17:78078713 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001065440] |
Chr17:80117748 [GRCh38] Chr17:78091547 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1464dup (p.Asp489fs) |
duplication |
Glycogen storage disease, type II [RCV001067144]|not provided [RCV001724225] |
Chr17:80110749..80110750 [GRCh38] Chr17:78084548..78084549 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001228681] |
Chr17:80110994 [GRCh38] Chr17:78084793 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001202637] |
Chr17:80118292 [GRCh38] Chr17:78092091 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.488A>T (p.Asp163Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248409]|not provided [RCV001813817] |
Chr17:80105074 [GRCh38] Chr17:78078873 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.68C>T (p.Thr23Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001064957] |
Chr17:80104654 [GRCh38] Chr17:78078453 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001219641] |
Chr17:80117696 [GRCh38] Chr17:78091495 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.161C>T (p.Pro54Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248345] |
Chr17:80104747 [GRCh38] Chr17:78078546 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393544]|Glycogen storage disease, type II [RCV001223411]|not provided [RCV001806061] |
Chr17:80111992 [GRCh38] Chr17:78085791 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal) |
indel |
Glycogen storage disease, type II [RCV001200865]|not provided [RCV003142126] |
Chr17:80113344..80113356 [GRCh38] Chr17:78087143..78087155 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.722_723del (p.Phe241fs) |
deletion |
Glycogen storage disease, type II [RCV001200871] |
Chr17:80107585..80107586 [GRCh38] Chr17:78081384..78081385 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.377G>A (p.Trp126Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001200872] |
Chr17:80104963 [GRCh38] Chr17:78078762 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.955+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001200873] |
Chr17:80107897 [GRCh38] Chr17:78081696 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001233390] |
Chr17:80108713 [GRCh38] Chr17:78082512 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.899C>T (p.Ala300Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001220708] |
Chr17:80107840 [GRCh38] Chr17:78081639 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.461G>A (p.Arg154His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001202910] |
Chr17:80105047 [GRCh38] Chr17:78078846 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.590C>T (p.Thr197Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001226399] |
Chr17:80105792 [GRCh38] Chr17:78079591 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001240945]|not provided [RCV003132328] |
Chr17:80108549 [GRCh38] Chr17:78082348 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs) |
indel |
Glycogen storage disease, type II [RCV001239370]|not provided [RCV001785798] |
Chr17:80107663..80107667 [GRCh38] Chr17:78081462..78081466 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001243105] |
Chr17:80112100 [GRCh38] Chr17:78085899 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.133T>G (p.Ser45Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001235043] |
Chr17:80104719 [GRCh38] Chr17:78078518 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1579del (p.Arg527fs) |
deletion |
Glycogen storage disease, type II [RCV001225163] |
Chr17:80110968 [GRCh38] Chr17:78084767 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001243457]|not provided [RCV001726464] |
Chr17:80104803 [GRCh38] Chr17:78078602 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.979G>A (p.Ala327Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001243504] |
Chr17:80108313 [GRCh38] Chr17:78082112 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1576A>G (p.Ile526Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001232040] |
Chr17:80110965 [GRCh38] Chr17:78084764 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1225dup (p.Asp409fs) |
duplication |
Glycogen storage disease, type II [RCV001224185]|not provided [RCV001780153] |
Chr17:80108725..80108726 [GRCh38] Chr17:78082524..78082525 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001223131] |
Chr17:80108808 [GRCh38] Chr17:78082607 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001242088] |
Chr17:80113276 [GRCh38] Chr17:78087075 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001221761] |
Chr17:80112914 [GRCh38] Chr17:78086713 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.244T>C (p.Cys82Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001207417] |
Chr17:80104830 [GRCh38] Chr17:78078629 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001240872] |
Chr17:80110029 [GRCh38] Chr17:78083828 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1195-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248954] |
Chr17:80108695 [GRCh38] Chr17:78082494 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249005] |
Chr17:80108337 [GRCh38] Chr17:78082136 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249044] |
Chr17:80112945 [GRCh38] Chr17:78086744 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249049]|not provided [RCV001780194] |
Chr17:80112645 [GRCh38] Chr17:78086444 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.883C>A (p.His295Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001226064]|not provided [RCV003145424] |
Chr17:80107824 [GRCh38] Chr17:78081623 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.221G>A (p.Arg74His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001242349]|not provided [RCV003142210] |
Chr17:80104807 [GRCh38] Chr17:78078606 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249032] |
Chr17:80116988 [GRCh38] Chr17:78090787 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1755-3C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248405] |
Chr17:80112575 [GRCh38] Chr17:78086374 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1847dup (p.Asp616fs) |
duplication |
Glycogen storage disease, type II [RCV000855414] |
Chr17:80112669..80112670 [GRCh38] Chr17:78086468..78086469 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.26C>G (p.Ser9Cys) |
single nucleotide variant |
not provided [RCV000996615] |
Chr17:80104612 [GRCh38] Chr17:78078411 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.193C>T (p.Pro65Ser) |
single nucleotide variant |
not provided [RCV000996616] |
Chr17:80104779 [GRCh38] Chr17:78078578 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1836C>G (p.His612Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249047] |
Chr17:80112659 [GRCh38] Chr17:78086458 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.-32-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249079] |
Chr17:80104553 [GRCh38] Chr17:78078352 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001199946]|not provided [RCV001780105] |
Chr17:80112643 [GRCh38] Chr17:78086442 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.-325C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001125212]|Primary ciliary dyskinesia 15 [RCV001125211] |
Chr17:80101598 [GRCh38] Chr17:78075397 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2716G>A (p.Val906Ile) |
single nucleotide variant |
not provided [RCV001091541] |
Chr17:80118722 [GRCh38] Chr17:78092521 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.*82C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001122819] |
Chr17:80119413 [GRCh38] Chr17:78093212 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001228970]|not provided [RCV001751444] |
Chr17:80107812 [GRCh38] Chr17:78081611 [GRCh37] Chr17:17q25.3 |
pathogenic|uncertain significance |
NM_000152.5(GAA):c.-75C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001126190]|Primary ciliary dyskinesia 15 [RCV001126189]|not provided [RCV001732049] |
Chr17:80101848 [GRCh38] Chr17:78075647 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.*219G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001123905] |
Chr17:80119550 [GRCh38] Chr17:78093349 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.*313C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001123908] |
Chr17:80119644 [GRCh38] Chr17:78093443 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1704C>G (p.His568Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248864] |
Chr17:80112050 [GRCh38] Chr17:78085849 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248865]|not provided [RCV001780189] |
Chr17:80110953 [GRCh38] Chr17:78084752 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.956-31T>C |
single nucleotide variant |
not provided [RCV001576118] |
Chr17:80108259 [GRCh38] Chr17:78082058 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2331+151C>T |
single nucleotide variant |
not provided [RCV001551759] |
Chr17:80117260 [GRCh38] Chr17:78091059 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1194+11G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003106735] |
Chr17:80108618 [GRCh38] Chr17:78082417 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1326+132G>A |
single nucleotide variant |
not provided [RCV001666140] |
Chr17:80108960 [GRCh38] Chr17:78082759 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.955+155C>A |
single nucleotide variant |
not provided [RCV001666222] |
Chr17:80108051 [GRCh38] Chr17:78081850 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.-33+219G>C |
single nucleotide variant |
not provided [RCV001635926] |
Chr17:80102109 [GRCh38] Chr17:78075908 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.546+176C>T |
single nucleotide variant |
not provided [RCV001593876] |
Chr17:80105308 [GRCh38] Chr17:78079107 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1755-200dup |
duplication |
not provided [RCV001569893] |
Chr17:80112370..80112371 [GRCh38] Chr17:78086169..78086170 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.692+144A>G |
single nucleotide variant |
not provided [RCV001716210] |
Chr17:80106038 [GRCh38] Chr17:78079837 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.956-107G>A |
single nucleotide variant |
not provided [RCV001649559] |
Chr17:80108183 [GRCh38] Chr17:78081982 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1437+22C>T |
single nucleotide variant |
not provided [RCV001568258] |
Chr17:80110077 [GRCh38] Chr17:78083876 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1485C>T (p.Ala495=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002071911]|not specified [RCV001532935] |
Chr17:80110774 [GRCh38] Chr17:78084573 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1989G>A (p.Gln663=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001470252] |
Chr17:80112976 [GRCh38] Chr17:78086775 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2769C>A (p.Val923=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000930210] |
Chr17:80118775 [GRCh38] Chr17:78092574 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1140C>T (p.Ser380=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000887203] |
Chr17:80108553 [GRCh38] Chr17:78082352 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1893C>T (p.Ile631=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001439959] |
Chr17:80112880 [GRCh38] Chr17:78086679 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2424G>A (p.Pro808=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454032]|Glycogen storage disease, type II [RCV000874739] |
Chr17:80117692 [GRCh38] Chr17:78091491 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.654C>T (p.Phe218=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363503]|Glycogen storage disease, type II [RCV000979980] |
Chr17:80105856 [GRCh38] Chr17:78079655 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.246C>T (p.Cys82=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454113]|Glycogen storage disease, type II [RCV001424358] |
Chr17:80104832 [GRCh38] Chr17:78078631 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.138C>T (p.Ser46=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000977371] |
Chr17:80104724 [GRCh38] Chr17:78078523 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1533C>G (p.Pro511=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001479182] |
Chr17:80110822 [GRCh38] Chr17:78084621 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.240A>G (p.Thr80=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000916725] |
Chr17:80104826 [GRCh38] Chr17:78078625 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000886768]|not provided [RCV003130083] |
Chr17:80109964 [GRCh38] Chr17:78083763 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.2097C>T (p.Leu699=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV000933307] |
Chr17:80113274 [GRCh38] Chr17:78087073 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2544C>T (p.Thr848=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001452454]|not provided [RCV003424447] |
Chr17:80118255 [GRCh38] Chr17:78092054 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2263del (p.Val755fs) |
deletion |
not provided [RCV001781147] |
Chr17:80117041 [GRCh38] Chr17:78090840 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1486C>T (p.Leu496=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390972]|Glycogen storage disease, type II [RCV001430564] |
Chr17:80110775 [GRCh38] Chr17:78084574 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.798C>G (p.Pro266=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001460073] |
Chr17:80107662 [GRCh38] Chr17:78081461 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2757C>T (p.Asn919=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169263]|Glycogen storage disease, type II [RCV000904484] |
Chr17:80118763 [GRCh38] Chr17:78092562 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1071T>C (p.Val357=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001494868] |
Chr17:80108405 [GRCh38] Chr17:78082204 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2040+8G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV000983271] |
Chr17:80113035 [GRCh38] Chr17:78086834 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2739C>T (p.Pro913=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434181]|Glycogen storage disease, type II [RCV000887817] |
Chr17:80118745 [GRCh38] Chr17:78092544 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1781G>A (p.Arg594His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001876297]|Glycoprotein storage disease [RCV001248866]|not provided [RCV003142223] |
Chr17:80112604 [GRCh38] Chr17:78086403 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248925] |
Chr17:80119318 [GRCh38] Chr17:78093117 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248926]|not provided [RCV001780190] |
Chr17:80110951 [GRCh38] Chr17:78084750 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1441del (p.Trp481fs) |
deletion |
Glycogen storage disease, type II [RCV001248927]|not provided [RCV001780191] |
Chr17:80110730 [GRCh38] Chr17:78084529 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1327-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248928]|not provided [RCV001780192] |
Chr17:80109943 [GRCh38] Chr17:78083742 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249006]|not provided [RCV001780193] |
Chr17:80107607 [GRCh38] Chr17:78081406 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249031] |
Chr17:80118239 [GRCh38] Chr17:78092038 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2041-1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249033] |
Chr17:80113217 [GRCh38] Chr17:78087016 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.547-67C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249077]|not provided [RCV001597259] |
Chr17:80105682 [GRCh38] Chr17:78079481 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1087A>G (p.Met363Val) |
single nucleotide variant |
not specified [RCV001194238] |
Chr17:80108500 [GRCh38] Chr17:78082299 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1743C>G (p.Ile581Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001244232] |
Chr17:80112089 [GRCh38] Chr17:78085888 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001228172]|not provided [RCV003132305] |
Chr17:80112090 [GRCh38] Chr17:78085889 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1734C>T (p.Thr578=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001126382] |
Chr17:80112080 [GRCh38] Chr17:78085879 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) |
deletion |
Glycogen storage disease, type II [RCV001200863]|not provided [RCV001780107] |
Chr17:80110025..80110027 [GRCh38] Chr17:78083824..78083826 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del) |
deletion |
Glycogen storage disease, type II [RCV001200870] |
Chr17:80105043..80105051 [GRCh38] Chr17:78078842..78078850 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.623T>C (p.Leu208Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002555444]|not specified [RCV001175569] |
Chr17:80105825 [GRCh38] Chr17:78079624 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001071217]|not provided [RCV001568545]|not specified [RCV003155354] |
Chr17:80107706 [GRCh38] Chr17:78081505 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1396del (p.Val466fs) |
deletion |
Glycogen storage disease, type II [RCV001201750] |
Chr17:80110009 [GRCh38] Chr17:78083808 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001035696] |
Chr17:80113218 [GRCh38] Chr17:78087017 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1437+6G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001244698] |
Chr17:80110061 [GRCh38] Chr17:78083860 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs) |
indel |
Glycogen storage disease, type II [RCV001243297] |
Chr17:80110044..80110047 [GRCh38] Chr17:78083843..78083846 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001245038]|Inborn genetic diseases [RCV002568611]|not provided [RCV001786455] |
Chr17:80117712 [GRCh38] Chr17:78091511 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs) |
indel |
Glycogen storage disease, type II [RCV001243437] |
Chr17:80112584..80112588 [GRCh38] Chr17:78086383..78086387 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001245236]|not provided [RCV003145483] |
Chr17:80112896 [GRCh38] Chr17:78086695 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001227602] |
Chr17:80118277 [GRCh38] Chr17:78092076 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.857C>T (p.Thr286Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001243641]|not provided [RCV003145475] |
Chr17:80107721 [GRCh38] Chr17:78081520 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001208814] |
Chr17:80117062 [GRCh38] Chr17:78090861 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.383T>C (p.Phe128Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001044505] |
Chr17:80104969 [GRCh38] Chr17:78078768 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.307T>C (p.Cys103Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001193578] |
Chr17:80104893 [GRCh38] Chr17:78078692 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001234653] |
Chr17:80112959 [GRCh38] Chr17:78086758 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1817A>C (p.His606Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001234908]|not provided [RCV003145450] |
Chr17:80112640 [GRCh38] Chr17:78086439 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.912C>T (p.Gly304=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002375278]|Glycogen storage disease, type II [RCV001241695]|not provided [RCV001796864] |
Chr17:80107853 [GRCh38] Chr17:78081652 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NC_000017.11:g.(?_80108677)_(80113386_?)del |
deletion |
Glycogen storage disease, type II [RCV001032053] |
Chr17:78082476..78087185 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1195-22C>T |
single nucleotide variant |
not specified [RCV001193014] |
Chr17:80108675 [GRCh38] Chr17:78082474 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.96C>G (p.Leu32=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001401091] |
Chr17:80104682 [GRCh38] Chr17:78078481 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1302C>T (p.Gly434=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169388]|Glycogen storage disease, type II [RCV000935457] |
Chr17:80108804 [GRCh38] Chr17:78082603 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1941C>T (p.Cys647=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409217]|Glycogen storage disease, type II [RCV000934623] |
Chr17:80112928 [GRCh38] Chr17:78086727 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1438-32G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001832746]|not provided [RCV001550904] |
Chr17:80110695 [GRCh38] Chr17:78084494 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2189+221A>C |
single nucleotide variant |
not provided [RCV001577558] |
Chr17:80113587 [GRCh38] Chr17:78087386 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+118G>A |
single nucleotide variant |
not provided [RCV001578172] |
Chr17:80111143 [GRCh38] Chr17:78084942 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2811C>G (p.Ile937Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001563756] |
Chr17:80119283 [GRCh38] Chr17:78093082 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.545C>T (p.Thr182Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001563757]|not provided [RCV002267116] |
Chr17:80105131 [GRCh38] Chr17:78078930 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2331+156C>G |
single nucleotide variant |
not provided [RCV001559886] |
Chr17:80117265 [GRCh38] Chr17:78091064 [GRCh37] Chr17:17q25.3 |
likely benign |
NC_000017.11:g.80101448G>C |
single nucleotide variant |
not provided [RCV001559940] |
Chr17:80101448 [GRCh38] Chr17:78075247 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.-32-84G>A |
single nucleotide variant |
not provided [RCV001559971] |
Chr17:80104471 [GRCh38] Chr17:78078270 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+117del |
deletion |
not provided [RCV001636475] |
Chr17:80111142 [GRCh38] Chr17:78084941 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001263816] |
Chr17:80118330 [GRCh38] Chr17:78092129 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2190-53C>G |
single nucleotide variant |
not provided [RCV001592320] |
Chr17:80116915 [GRCh38] Chr17:78090714 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-321del |
deletion |
not provided [RCV001713949] |
Chr17:80109624 [GRCh38] Chr17:78083423 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.693-78C>T |
single nucleotide variant |
not provided [RCV001620945] |
Chr17:80107479 [GRCh38] Chr17:78081278 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1437+70T>A |
single nucleotide variant |
not provided [RCV001656386] |
Chr17:80110125 [GRCh38] Chr17:78083924 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.310G>C (p.Glu104Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001128257]|not provided [RCV003130162] |
Chr17:80104896 [GRCh38] Chr17:78078695 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.435A>T (p.Glu145Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001128258] |
Chr17:80105021 [GRCh38] Chr17:78078820 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1076-15G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001128338] |
Chr17:80108474 [GRCh38] Chr17:78082273 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001128432] |
Chr17:80112986 [GRCh38] Chr17:78086785 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.*310C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001123907] |
Chr17:80119641 [GRCh38] Chr17:78093440 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.630C>T (p.Ser210=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003293891]|Glycogen storage disease, type II [RCV001125316] |
Chr17:80105832 [GRCh38] Chr17:78079631 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001034958] |
Chr17:80117649 [GRCh38] Chr17:78091448 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.836G>A (p.Trp279Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001193013] |
Chr17:80107700 [GRCh38] Chr17:78081499 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001246004] |
Chr17:80117615 [GRCh38] Chr17:78091414 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001125097]|Inborn genetic diseases [RCV003246709]|Primary ciliary dyskinesia 15 [RCV001125096] |
Chr17:80099558 [GRCh38] Chr17:78073357 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 |
copy number gain |
not provided [RCV001006919] |
Chr17:73261871..78608763 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_000152.5(GAA):c.1716C>G (p.His572Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001194239]|not provided [RCV003145370] |
Chr17:80112062 [GRCh38] Chr17:78085861 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.196C>T (p.Arg66Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001126191] |
Chr17:80104782 [GRCh38] Chr17:78078581 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.840C>G (p.Asn280Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001126287] |
Chr17:80107704 [GRCh38] Chr17:78081503 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1913G>T (p.Gly638Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001193579]|not provided [RCV001780099] |
Chr17:80112900 [GRCh38] Chr17:78086699 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001043994] |
Chr17:80117634 [GRCh38] Chr17:78091433 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001045915] |
Chr17:80108334 [GRCh38] Chr17:78082133 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001193011]|not provided [RCV003144478] |
Chr17:80117006 [GRCh38] Chr17:78090805 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001047976]|not provided [RCV002264159] |
Chr17:80105006 [GRCh38] Chr17:78078805 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.466A>T (p.Thr156Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001229014] |
Chr17:80105052 [GRCh38] Chr17:78078851 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.*64G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001122817]|not provided [RCV001675984] |
Chr17:80119395 [GRCh38] Chr17:78093194 [GRCh37] Chr17:17q25.3 |
benign|uncertain significance |
NC_000017.11:g.(?_80109935)_(80113376_?)del |
deletion |
Glycogen storage disease, type II [RCV001032590] |
Chr17:78083734..78087175 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1327-118A>G |
single nucleotide variant |
not provided [RCV001670769] |
Chr17:80109827 [GRCh38] Chr17:78083626 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001866229]|not provided [RCV001588706] |
Chr17:80112927 [GRCh38] Chr17:78086726 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1715A>C (p.His572Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001071052] |
Chr17:80112061 [GRCh38] Chr17:78085860 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2041-64G>A |
single nucleotide variant |
not provided [RCV001713201] |
Chr17:80113154 [GRCh38] Chr17:78086953 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2332-170C>G |
single nucleotide variant |
not provided [RCV001533927] |
Chr17:80117430 [GRCh38] Chr17:78091229 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.773C>G (p.Thr258Arg) |
single nucleotide variant |
not provided [RCV001583112] |
Chr17:80107637 [GRCh38] Chr17:78081436 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1636+118G>T |
single nucleotide variant |
not provided [RCV001650271] |
Chr17:80111143 [GRCh38] Chr17:78084942 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del) |
deletion |
Glycogen storage disease, type II [RCV001078140] |
Chr17:80112894..80112902 [GRCh38] Chr17:78086693..78086701 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.955+167C>T |
single nucleotide variant |
not provided [RCV001587034] |
Chr17:80108063 [GRCh38] Chr17:78081862 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1457C>T (p.Ala486Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001046191]|not provided [RCV001805992] |
Chr17:80110746 [GRCh38] Chr17:78084545 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001194633] |
Chr17:80110829 [GRCh38] Chr17:78084628 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2432del (p.Leu811fs) |
deletion |
Glycogen storage disease, type II [RCV001208130] |
Chr17:80117700 [GRCh38] Chr17:78091499 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1194+5G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001196112] |
Chr17:80108612 [GRCh38] Chr17:78082411 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248924] |
Chr17:80112667 [GRCh38] Chr17:78086466 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248955] |
Chr17:80108513 [GRCh38] Chr17:78082312 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001208306] |
Chr17:80116993 [GRCh38] Chr17:78090792 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001207429] |
Chr17:80118266 [GRCh38] Chr17:78092065 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339343]|Glycogen storage disease, type II [RCV001068891] |
Chr17:80108605 [GRCh38] Chr17:78082404 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.530A>C (p.Asn177Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001041971] |
Chr17:80105116 [GRCh38] Chr17:78078915 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.539A>G (p.His180Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001056438] |
Chr17:80105125 [GRCh38] Chr17:78078924 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248863] |
Chr17:80112071 [GRCh38] Chr17:78085870 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001220302]|not provided [RCV003145408] |
Chr17:80108549 [GRCh38] Chr17:78082348 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.268T>A (p.Phe90Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001042477] |
Chr17:80104854 [GRCh38] Chr17:78078653 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001056992] |
Chr17:80112917 [GRCh38] Chr17:78086716 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001247855]|not provided [RCV003130231] |
Chr17:80104902 [GRCh38] Chr17:78078701 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001053072] |
Chr17:80110948 [GRCh38] Chr17:78084747 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1755-1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001053073] |
Chr17:80112577 [GRCh38] Chr17:78086376 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2012T>C (p.Met671Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001061203] |
Chr17:80112999 [GRCh38] Chr17:78086798 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2479C>T (p.Gln827Ter) |
single nucleotide variant |
not provided [RCV001091539] |
Chr17:80117747 [GRCh38] Chr17:78091546 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1643T>C (p.Val548Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001219885] |
Chr17:80111989 [GRCh38] Chr17:78085788 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001053526] |
Chr17:80112939 [GRCh38] Chr17:78086738 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001123713] |
Chr17:80110045 [GRCh38] Chr17:78083844 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001233694] |
Chr17:80107631 [GRCh38] Chr17:78081430 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1654del (p.Leu552fs) |
deletion |
Glycogen storage disease, type II [RCV001200867] |
Chr17:80111998 [GRCh38] Chr17:78085797 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.322T>A (p.Cys108Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001051500] |
Chr17:80104908 [GRCh38] Chr17:78078707 [GRCh37] Chr17:17q25.3 |
pathogenic|uncertain significance |
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001054048] |
Chr17:80108557 [GRCh38] Chr17:78082356 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436613]|Glycogen storage disease, type II [RCV001054052]|not provided [RCV003145301] |
Chr17:80119291 [GRCh38] Chr17:78093090 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002445272]|Glycogen storage disease, type II [RCV001051683] |
Chr17:80117630 [GRCh38] Chr17:78091429 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001217897]|not provided [RCV003130191] |
Chr17:80117669 [GRCh38] Chr17:78091468 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.148G>T (p.Glu50Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001207918] |
Chr17:80104734 [GRCh38] Chr17:78078533 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1989G>T (p.Gln663His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001216207] |
Chr17:80112976 [GRCh38] Chr17:78086775 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001215139] |
Chr17:80112885 [GRCh38] Chr17:78086684 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001217957] |
Chr17:80117636 [GRCh38] Chr17:78091435 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.378G>A (p.Trp126Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001207151] |
Chr17:80104964 [GRCh38] Chr17:78078763 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001210733] |
Chr17:80111008 [GRCh38] Chr17:78084807 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1519dup (p.His507fs) |
duplication |
Glycogen storage disease, type II [RCV001218145] |
Chr17:80110806..80110807 [GRCh38] Chr17:78084605..78084606 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.461G>C (p.Arg154Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001196113] |
Chr17:80105047 [GRCh38] Chr17:78078846 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.928G>T (p.Val310Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001216662] |
Chr17:80107869 [GRCh38] Chr17:78081668 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.167A>T (p.His56Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001059492] |
Chr17:80104753 [GRCh38] Chr17:78078552 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) |
deletion |
Glycogen storage disease, type II [RCV001059579]|not provided [RCV001784616] |
Chr17:80113258 [GRCh38] Chr17:78087057 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.643G>T (p.Glu215Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001204589] |
Chr17:80105845 [GRCh38] Chr17:78079644 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) |
deletion |
Glycogen storage disease, type II [RCV001200864] |
Chr17:80112949..80112951 [GRCh38] Chr17:78086748..78086750 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001200875] |
Chr17:80104985 [GRCh38] Chr17:78078784 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.*163G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001122820] |
Chr17:80119494 [GRCh38] Chr17:78093293 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001246398] |
Chr17:80108755 [GRCh38] Chr17:78082554 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001035068] |
Chr17:80112972 [GRCh38] Chr17:78086771 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1638G>A (p.Gly546=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001126381] |
Chr17:80111984 [GRCh38] Chr17:78085783 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.692+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249007] |
Chr17:80105895 [GRCh38] Chr17:78079694 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.692+1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249008] |
Chr17:80105895 [GRCh38] Chr17:78079694 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.671G>C (p.Arg224Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249009] |
Chr17:80105873 [GRCh38] Chr17:78079672 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249045] |
Chr17:80112930 [GRCh38] Chr17:78086729 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1888+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249046] |
Chr17:80112712 [GRCh38] Chr17:78086511 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249048] |
Chr17:80112627 [GRCh38] Chr17:78086426 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001249078] |
Chr17:80104589 [GRCh38] Chr17:78078388 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) |
microsatellite |
Glycogen storage disease, type II [RCV001174788] |
Chr17:80116995..80116996 [GRCh38] Chr17:78090794..78090795 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.217G>T (p.Gly73Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001064774] |
Chr17:80104803 [GRCh38] Chr17:78078602 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1448G>T (p.Gly483Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001123714] |
Chr17:80110737 [GRCh38] Chr17:78084536 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1739C>T (p.Ala580Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001064878] |
Chr17:80112085 [GRCh38] Chr17:78085884 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.*264G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001123906] |
Chr17:80119595 [GRCh38] Chr17:78093394 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001050926]|not provided [RCV001759783] |
Chr17:80118797 [GRCh38] Chr17:78092596 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001051159] |
Chr17:80109988 [GRCh38] Chr17:78083787 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.*66G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001122818] |
Chr17:80119397 [GRCh38] Chr17:78093196 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2790C>T (p.Pro930=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001128526] |
Chr17:80118796 [GRCh38] Chr17:78092595 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.368G>T (p.Gly123Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001248095] |
Chr17:80104954 [GRCh38] Chr17:78078753 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003294028]|Glycogen storage disease, type II [RCV001213620]|not provided [RCV003130188] |
Chr17:80118308 [GRCh38] Chr17:78092107 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411745]|Glycogen storage disease, type II [RCV001203742] |
Chr17:80112654 [GRCh38] Chr17:78086453 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001233657]|not provided [RCV001507902] |
Chr17:80110826 [GRCh38] Chr17:78084625 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1888+6_1888+14del |
deletion |
Glycogen storage disease, type II [RCV001232467] |
Chr17:80112717..80112725 [GRCh38] Chr17:78086516..78086524 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1936G>A (p.Val646Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001245932]|not provided [RCV002292620] |
Chr17:80112923 [GRCh38] Chr17:78086722 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001213230] |
Chr17:80112065 [GRCh38] Chr17:78085864 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1669A>G (p.Ile557Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001062538] |
Chr17:80112015 [GRCh38] Chr17:78085814 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.608G>A (p.Arg203Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001052339] |
Chr17:80105810 [GRCh38] Chr17:78079609 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup) |
duplication |
Glycogen storage disease, type II [RCV001200866] |
Chr17:80110014..80110015 [GRCh38] Chr17:78083813..78083814 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2161del (p.Glu721fs) |
deletion |
Glycogen storage disease, type II [RCV001200868] |
Chr17:80113334 [GRCh38] Chr17:78087133 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1317G>A (p.Met439Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001062884] |
Chr17:80108819 [GRCh38] Chr17:78082618 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001215797] |
Chr17:80109993 [GRCh38] Chr17:78083792 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1192del (p.Leu398fs) |
deletion |
not provided [RCV001090259] |
Chr17:80108601 [GRCh38] Chr17:78082400 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2529G>A (p.Leu843=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001063182] |
Chr17:80118240 [GRCh38] Chr17:78092039 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1437+2T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001053248] |
Chr17:80110057 [GRCh38] Chr17:78083856 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.316C>G (p.Arg106Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001042857] |
Chr17:80104902 [GRCh38] Chr17:78078701 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001246777] |
Chr17:80112649 [GRCh38] Chr17:78086448 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.759del (p.Ser254fs) |
deletion |
Glycogen storage disease, type II [RCV001039379]|not provided [RCV001784579] |
Chr17:80107621 [GRCh38] Chr17:78081420 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001063671] |
Chr17:80117084 [GRCh38] Chr17:78090883 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001063896] |
Chr17:80110997 [GRCh38] Chr17:78084796 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn) |
duplication |
Glycogen storage disease, type II [RCV001200869] |
Chr17:80110941..80110942 [GRCh38] Chr17:78084740..78084741 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001263725] |
Chr17:80113307 [GRCh38] Chr17:78087106 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001263724]|not provided [RCV001780215] |
Chr17:80110836 [GRCh38] Chr17:78084635 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.917C>A (p.Ser306Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001263723] |
Chr17:80107858 [GRCh38] Chr17:78081657 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001263726] |
Chr17:80113320 [GRCh38] Chr17:78087119 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001263815] |
Chr17:80118256 [GRCh38] Chr17:78092055 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1336A>G (p.Ile446Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001262437] |
Chr17:80109954 [GRCh38] Chr17:78083753 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001265217] |
Chr17:80104587 [GRCh38] Chr17:78078386 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2040G>A (p.Leu680=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001265222]|not provided [RCV003135906] |
Chr17:80113027 [GRCh38] Chr17:78086826 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.763C>T (p.Gln255Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001265223] |
Chr17:80107627 [GRCh38] Chr17:78081426 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001265227] |
Chr17:80104588 [GRCh38] Chr17:78078387 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001261939] |
Chr17:80108335 [GRCh38] Chr17:78082134 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) |
single nucleotide variant |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001283827]|Glycogen storage disease, type II [RCV001261625]|not provided [RCV001702092] |
Chr17:80112003 [GRCh38] Chr17:78085802 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.860C>T (p.Pro287Leu) |
single nucleotide variant |
not specified [RCV001293491] |
Chr17:80107801 [GRCh38] Chr17:78081600 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.426C>A (p.Ser142Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001299694] |
Chr17:80105012 [GRCh38] Chr17:78078811 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001303805] |
Chr17:80116976 [GRCh38] Chr17:78090775 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1254G>A (p.Lys418=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001305202] |
Chr17:80108756 [GRCh38] Chr17:78082555 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.364A>G (p.Met122Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001350022] |
Chr17:80104950 [GRCh38] Chr17:78078749 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.955G>A (p.Asp319Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001308498] |
Chr17:80107896 [GRCh38] Chr17:78081695 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1356del (p.Ser454fs) |
deletion |
Glycogen storage disease, type II [RCV001265221] |
Chr17:80109973 [GRCh38] Chr17:78083772 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.546+2_546+5del |
deletion |
Glycogen storage disease, type II [RCV001261922]|not provided [RCV003482356] |
Chr17:80105132..80105135 [GRCh38] Chr17:78078931..78078934 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001297956]|not provided [RCV001536909] |
Chr17:80113287 [GRCh38] Chr17:78087086 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1844G>T (p.Gly615Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001298620] |
Chr17:80112667 [GRCh38] Chr17:78086466 [GRCh37] Chr17:17q25.3 |
pathogenic|uncertain significance |
NM_000152.5(GAA):c.2189+5_2189+8del |
microsatellite |
Glycogen storage disease, type II [RCV001261938] |
Chr17:80113365..80113368 [GRCh38] Chr17:78087164..78087167 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001261923]|not provided [RCV001780211] |
Chr17:80110734 [GRCh38] Chr17:78084533 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1551+5G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001261940] |
Chr17:80110845 [GRCh38] Chr17:78084644 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.904G>T (p.Glu302Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001263722] |
Chr17:80107845 [GRCh38] Chr17:78081644 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.26C>T (p.Ser9Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001313981] |
Chr17:80104612 [GRCh38] Chr17:78078411 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.228_229insAGC (p.Ala77_Val78insSer) |
insertion |
Glycogen storage disease, type II [RCV001286264] |
Chr17:80104814..80104815 [GRCh38] Chr17:78078613..78078614 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2803C>T (p.Leu935=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001280481] |
Chr17:80119275 [GRCh38] Chr17:78093074 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2829G>A (p.Met943Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001314738] |
Chr17:80119301 [GRCh38] Chr17:78093100 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.723T>G (p.Phe241Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001325613]|not provided [RCV001773650] |
Chr17:80107587 [GRCh38] Chr17:78081386 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001312414]|not provided [RCV003145549] |
Chr17:80105771 [GRCh38] Chr17:78079570 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001295399] |
Chr17:80110983 [GRCh38] Chr17:78084782 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.292A>T (p.Ile98Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001300862] |
Chr17:80104878 [GRCh38] Chr17:78078677 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001340781]|not provided [RCV003145584] |
Chr17:80108516 [GRCh38] Chr17:78082315 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001337394] |
Chr17:80108519 [GRCh38] Chr17:78082318 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1327-7T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001321518] |
Chr17:80109938 [GRCh38] Chr17:78083737 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001372138] |
Chr17:80111022 [GRCh38] Chr17:78084821 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001353145]|not provided [RCV003136020] |
Chr17:80118789 [GRCh38] Chr17:78092588 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NC_000017.10:g.(?_78086381)_78091497del |
deletion |
Glycogen storage disease, type II [RCV001379942] |
|
likely pathogenic |
NC_000017.10:g.(?_78091972)_(78092176_?)del |
deletion |
Glycogen storage disease, type II [RCV001384694] |
Chr17:78091972..78092176 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) |
deletion |
Glycogen storage disease, type II [RCV001388432]|not provided [RCV001785818] |
Chr17:80117673..80117691 [GRCh38] Chr17:78091472..78091490 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1308del (p.Arg437fs) |
deletion |
Glycogen storage disease, type II [RCV001390361] |
Chr17:80108809 [GRCh38] Chr17:78082608 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001270298] |
Chr17:80117702 [GRCh38] Chr17:78091501 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1336dup (p.Ile446fs) |
duplication |
Glycogen storage disease, type II [RCV001380108] |
Chr17:80109953..80109954 [GRCh38] Chr17:78083752..78083753 [GRCh37] Chr17:17q25.3 |
pathogenic |
NC_000017.10:g.(?_78091652)_78092189del |
deletion |
Glycogen storage disease, type II [RCV001384695] |
|
pathogenic |
NM_000152.5(GAA):c.282del (p.Asp95fs) |
deletion |
Glycogen storage disease, type II [RCV001387147] |
Chr17:80104868 [GRCh38] Chr17:78078667 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1842G>C (p.Thr614=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001392867] |
Chr17:80112665 [GRCh38] Chr17:78086464 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.693-10T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001401674] |
Chr17:80107547 [GRCh38] Chr17:78081346 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2643G>A (p.Arg881=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001406311] |
Chr17:80118354 [GRCh38] Chr17:78092153 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2134C>T (p.Leu712=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001407877] |
Chr17:80113311 [GRCh38] Chr17:78087110 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2697G>T (p.Leu899=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001409647] |
Chr17:80118703 [GRCh38] Chr17:78092502 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2189+10C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001409979] |
Chr17:80113376 [GRCh38] Chr17:78087175 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.859-9A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001417943] |
Chr17:80107791 [GRCh38] Chr17:78081590 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1776G>C (p.Gly592=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001395509] |
Chr17:80112599 [GRCh38] Chr17:78086398 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1076-4G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001399018] |
Chr17:80108485 [GRCh38] Chr17:78082284 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2268C>T (p.Leu756=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001402657] |
Chr17:80117046 [GRCh38] Chr17:78090845 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1905C>T (p.Asn635=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001407504] |
Chr17:80112892 [GRCh38] Chr17:78086691 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2211C>T (p.Thr737=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001408497] |
Chr17:80116989 [GRCh38] Chr17:78090788 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.303A>G (p.Glu101=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001409670] |
Chr17:80104889 [GRCh38] Chr17:78078688 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-5C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001411895] |
Chr17:80109940 [GRCh38] Chr17:78083739 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.955+5G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001351248] |
Chr17:80107901 [GRCh38] Chr17:78081700 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1551+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001375542] |
Chr17:80110841 [GRCh38] Chr17:78084640 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.-32-13T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001325856]|not specified [RCV001844284] |
Chr17:80104542 [GRCh38] Chr17:78078341 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.732G>C (p.Gln244His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001359163]|not provided [RCV003132459] |
Chr17:80107596 [GRCh38] Chr17:78081395 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2043C>A (p.Pro681=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001422500] |
Chr17:80113220 [GRCh38] Chr17:78087019 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001302690]|not provided [RCV003145534] |
Chr17:80117074 [GRCh38] Chr17:78090873 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.260A>G (p.Asn87Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001306727]|not provided [RCV003135947] |
Chr17:80104846 [GRCh38] Chr17:78078645 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2721G>A (p.Leu907=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001433970] |
Chr17:80118727 [GRCh38] Chr17:78092526 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.574G>A (p.Glu192Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001360975]|not provided [RCV001773716] |
Chr17:80105776 [GRCh38] Chr17:78079575 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001362586] |
Chr17:80113022 [GRCh38] Chr17:78086821 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001362588] |
Chr17:80113347 [GRCh38] Chr17:78087146 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.683G>A (p.Gly228Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001364120] |
Chr17:80105885 [GRCh38] Chr17:78079684 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.706G>T (p.Val236Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001306509] |
Chr17:80107570 [GRCh38] Chr17:78081369 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001306648] |
Chr17:80112693 [GRCh38] Chr17:78086492 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2331+4A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001345752] |
Chr17:80117113 [GRCh38] Chr17:78090912 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.261C>G (p.Asn87Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001322949]|not provided [RCV001586125] |
Chr17:80104847 [GRCh38] Chr17:78078646 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001345891]|not specified [RCV003235554] |
Chr17:80117072 [GRCh38] Chr17:78090871 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001345895] |
Chr17:80108578 [GRCh38] Chr17:78082377 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_78092582)_78096154del |
deletion |
Glycogen storage disease, type II [RCV001318736] |
|
uncertain significance |
NM_000152.5(GAA):c.314C>T (p.Ala105Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001360748] |
Chr17:80104900 [GRCh38] Chr17:78078699 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2112A>C (p.Ala704=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001280480] |
Chr17:80113289 [GRCh38] Chr17:78087088 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1438G>A (p.Val480Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001324102]|not provided [RCV003135975] |
Chr17:80110727 [GRCh38] Chr17:78084526 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001324110] |
Chr17:80112045 [GRCh38] Chr17:78085844 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.769A>G (p.Ile257Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001346841] |
Chr17:80107633 [GRCh38] Chr17:78081432 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr) |
indel |
Glycogen storage disease, type II [RCV001371962] |
Chr17:80105869..80105870 [GRCh38] Chr17:78079668..78079669 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001320484] |
Chr17:80117712 [GRCh38] Chr17:78091511 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.446C>T (p.Thr149Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001347336] |
Chr17:80105032 [GRCh38] Chr17:78078831 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.*2C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001280482]|not provided [RCV001751542] |
Chr17:80119333 [GRCh38] Chr17:78093132 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001316991] |
Chr17:80109976 [GRCh38] Chr17:78083775 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.956-3C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001344253] |
Chr17:80108287 [GRCh38] Chr17:78082086 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001359261] |
Chr17:80113255 [GRCh38] Chr17:78087054 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.134C>T (p.Ser45Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001359778] |
Chr17:80104720 [GRCh38] Chr17:78078519 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2819_2820insAG (p.Leu941fs) |
insertion |
Glycogen storage disease, type II [RCV001325003] |
Chr17:80119291..80119292 [GRCh38] Chr17:78093090..78093091 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001321126] |
Chr17:80118728 [GRCh38] Chr17:78092527 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1438-10C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001368001] |
Chr17:80110717 [GRCh38] Chr17:78084516 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.840_842dup (p.Arg281dup) |
duplication |
Glycogen storage disease, type II [RCV001345516] |
Chr17:80107703..80107704 [GRCh38] Chr17:78081502..78081503 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.235C>T (p.Pro79Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001325135] |
Chr17:80104821 [GRCh38] Chr17:78078620 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2745G>C (p.Gln915His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001363962] |
Chr17:80118751 [GRCh38] Chr17:78092550 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001364490] |
Chr17:80113254 [GRCh38] Chr17:78087053 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.683dup (p.Arg229fs) |
duplication |
Glycogen storage disease, type II [RCV001385617] |
Chr17:80105883..80105884 [GRCh38] Chr17:78079682..78079683 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) |
deletion |
Glycogen storage disease, type II [RCV001385750] |
Chr17:80110968..80110969 [GRCh38] Chr17:78084767..78084768 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001386359] |
Chr17:80110732 [GRCh38] Chr17:78084531 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.759_763del (p.Ser254fs) |
deletion |
Glycogen storage disease, type II [RCV001386925] |
Chr17:80107622..80107626 [GRCh38] Chr17:78081421..78081425 [GRCh37] Chr17:17q25.3 |
pathogenic |
NC_000017.10:g.(?_78090799)_78093893del |
deletion |
Glycogen storage disease, type II [RCV001387093] |
|
pathogenic |
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001326749]|not provided [RCV003145575] |
Chr17:80108346 [GRCh38] Chr17:78082145 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001358813] |
Chr17:80110990 [GRCh38] Chr17:78084789 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2550T>C (p.Gly850=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001391752] |
Chr17:80118261 [GRCh38] Chr17:78092060 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1338C>T (p.Ile446=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001392821] |
Chr17:80109956 [GRCh38] Chr17:78083755 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2476C>T (p.Leu826=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001394199] |
Chr17:80117744 [GRCh38] Chr17:78091543 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1551+7G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001395575] |
Chr17:80110847 [GRCh38] Chr17:78084646 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1797C>T (p.Ser599=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404925]|Glycogen storage disease, type II [RCV001398778] |
Chr17:80112620 [GRCh38] Chr17:78086419 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.42C>T (p.Ala14=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001403256] |
Chr17:80104628 [GRCh38] Chr17:78078427 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.252C>A (p.Val84=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001405660] |
Chr17:80104838 [GRCh38] Chr17:78078637 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.72T>C (p.Ala24=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001408413] |
Chr17:80104658 [GRCh38] Chr17:78078457 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+2_546+6dup |
duplication |
Glycogen storage disease, type II [RCV001411961] |
Chr17:80105133..80105134 [GRCh38] Chr17:78078932..78078933 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1197C>T (p.Asp399=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160650]|Glycogen storage disease, type II [RCV001412773] |
Chr17:80108699 [GRCh38] Chr17:78082498 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2451C>T (p.His817=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001414126] |
Chr17:80117719 [GRCh38] Chr17:78091518 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2604G>A (p.Leu868=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001418476] |
Chr17:80118315 [GRCh38] Chr17:78092114 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2700G>A (p.Gln900=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001419664] |
Chr17:80118706 [GRCh38] Chr17:78092505 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1881C>T (p.Ser627=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411926]|Glycogen storage disease, type II [RCV001280479] |
Chr17:80112704 [GRCh38] Chr17:78086503 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.206A>G (p.Gln69Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001366845] |
Chr17:80104792 [GRCh38] Chr17:78078591 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001279298] |
Chr17:80108733 [GRCh38] Chr17:78082532 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001279299] |
Chr17:80112595 [GRCh38] Chr17:78086394 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.32G>T (p.Arg11Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001367234] |
Chr17:80104618 [GRCh38] Chr17:78078417 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001378875]|not provided [RCV001780289] |
Chr17:80110734 [GRCh38] Chr17:78084533 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001382744] |
Chr17:80108547 [GRCh38] Chr17:78082346 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1176C>T (p.Thr392=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001394698] |
Chr17:80108589 [GRCh38] Chr17:78082388 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2482-8C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001396401] |
Chr17:80118185 [GRCh38] Chr17:78091984 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.456G>C (p.Leu152=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001408532] |
Chr17:80105042 [GRCh38] Chr17:78078841 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.618C>G (p.Ser206=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001408976] |
Chr17:80105820 [GRCh38] Chr17:78079619 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+15dup |
duplication |
Glycogen storage disease, type II [RCV001410429] |
Chr17:80111034..80111035 [GRCh38] Chr17:78084833..78084834 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1680C>T (p.Ser560=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001411170] |
Chr17:80112026 [GRCh38] Chr17:78085825 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2148C>A (p.Ala716=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001418128] |
Chr17:80113325 [GRCh38] Chr17:78087124 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2355C>T (p.Ser785=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001418963] |
Chr17:80117623 [GRCh38] Chr17:78091422 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2525C>T (p.Ala842Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001365475] |
Chr17:80118236 [GRCh38] Chr17:78092035 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.610G>A (p.Ala204Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001494402] |
Chr17:80105812 [GRCh38] Chr17:78079611 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1555A>G (p.Met519Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001379276]|not provided [RCV002223308] |
Chr17:80110944 [GRCh38] Chr17:78084743 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2167G>A (p.Val723Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001383433]|not provided [RCV001780325] |
Chr17:80113344 [GRCh38] Chr17:78087143 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.199del (p.Asp67fs) |
deletion |
Glycogen storage disease, type II [RCV001387378] |
Chr17:80104783 [GRCh38] Chr17:78078582 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2173del (p.Arg725fs) |
deletion |
Glycogen storage disease, type II [RCV001389228] |
Chr17:80113348 [GRCh38] Chr17:78087147 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2040+8G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001393610] |
Chr17:80113035 [GRCh38] Chr17:78086834 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1218C>T (p.Asp406=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001395155] |
Chr17:80108720 [GRCh38] Chr17:78082519 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.921A>C (p.Ala307=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001397392] |
Chr17:80107862 [GRCh38] Chr17:78081661 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2646+8C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001397542] |
Chr17:80118365 [GRCh38] Chr17:78092164 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1438-7T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001398153] |
Chr17:80110720 [GRCh38] Chr17:78084519 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2172C>T (p.Ala724=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001398247] |
Chr17:80113349 [GRCh38] Chr17:78087148 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2403G>A (p.Glu801=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001399111] |
Chr17:80117671 [GRCh38] Chr17:78091470 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2520C>T (p.Pro840=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001403014] |
Chr17:80118231 [GRCh38] Chr17:78092030 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1194+8G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001404676] |
Chr17:80108615 [GRCh38] Chr17:78082414 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1116C>T (p.His372=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001406890] |
Chr17:80108529 [GRCh38] Chr17:78082328 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2772C>T (p.Ser924=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001408557] |
Chr17:80118778 [GRCh38] Chr17:78092577 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.340_341insT (p.Lys114fs) |
insertion |
Glycogen storage disease, type II [RCV001380266] |
Chr17:80104926..80104927 [GRCh38] Chr17:78078725..78078726 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001380442] |
Chr17:80108716 [GRCh38] Chr17:78082515 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs) |
duplication |
Glycogen storage disease, type II [RCV001380685] |
Chr17:80110945..80110946 [GRCh38] Chr17:78084744..78084745 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1704dup (p.Tyr569fs) |
duplication |
Glycogen storage disease, type II [RCV001380849] |
Chr17:80112049..80112050 [GRCh38] Chr17:78085848..78085849 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001382470] |
Chr17:80112974 [GRCh38] Chr17:78086773 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.766_784del (p.Tyr256fs) |
deletion |
Glycogen storage disease, type II [RCV001384033] |
Chr17:80107629..80107647 [GRCh38] Chr17:78081428..78081446 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1976_1977del (p.Val659fs) |
microsatellite |
Glycogen storage disease, type II [RCV001384992]|not provided [RCV003145651] |
Chr17:80112957..80112958 [GRCh38] Chr17:78086756..78086757 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1455T>G (p.Thr485=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001490219] |
Chr17:80110744 [GRCh38] Chr17:78084543 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1044G>A (p.Lys348=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002405111]|Glycogen storage disease, type II [RCV001472998] |
Chr17:80108378 [GRCh38] Chr17:78082177 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1695C>G (p.Leu565=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001457982] |
Chr17:80112041 [GRCh38] Chr17:78085840 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.84G>A (p.Gly28=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001453938] |
Chr17:80104670 [GRCh38] Chr17:78078469 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2595G>A (p.Leu865=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001470350] |
Chr17:80118306 [GRCh38] Chr17:78092105 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1239C>T (p.Asp413=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001462311] |
Chr17:80108741 [GRCh38] Chr17:78082540 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2559C>G (p.Ala853=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432353]|Glycogen storage disease, type II [RCV001482569] |
Chr17:80118270 [GRCh38] Chr17:78092069 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1122C>T (p.Cys374=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001430491] |
Chr17:80108535 [GRCh38] Chr17:78082334 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.942C>T (p.Asn314=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001504729] |
Chr17:80107883 [GRCh38] Chr17:78081682 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1105C>T (p.Leu369=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001470380] |
Chr17:80108518 [GRCh38] Chr17:78082317 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1674T>C (p.Cys558=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001465488] |
Chr17:80112020 [GRCh38] Chr17:78085819 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.543C>T (p.Phe181=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001504763] |
Chr17:80105129 [GRCh38] Chr17:78078928 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1416C>A (p.Thr472=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001496522] |
Chr17:80110034 [GRCh38] Chr17:78083833 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.583T>C (p.Leu195=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001503304] |
Chr17:80105785 [GRCh38] Chr17:78079584 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2646+8del |
deletion |
Glycogen storage disease, type II [RCV001454414] |
Chr17:80118364 [GRCh38] Chr17:78092163 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1637-185A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527135]|not provided [RCV001536763] |
Chr17:80111798 [GRCh38] Chr17:78085597 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1935C>T (p.Asp645=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001465908] |
Chr17:80112922 [GRCh38] Chr17:78086721 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.753G>T (p.Ser251=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001439269] |
Chr17:80107617 [GRCh38] Chr17:78081416 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2118C>G (p.Leu706=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001442015] |
Chr17:80113295 [GRCh38] Chr17:78087094 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2178C>A (p.Pro726=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432265]|Glycogen storage disease, type II [RCV001455402] |
Chr17:80113355 [GRCh38] Chr17:78087154 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1602C>A (p.Pro534=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001502952] |
Chr17:80110991 [GRCh38] Chr17:78084790 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.753G>A (p.Ser251=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001505513] |
Chr17:80107617 [GRCh38] Chr17:78081416 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.108G>A (p.Leu36=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001471699] |
Chr17:80104694 [GRCh38] Chr17:78078493 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1959C>T (p.Thr653=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001475634] |
Chr17:80112946 [GRCh38] Chr17:78086745 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1080C>T (p.Tyr360=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001492837] |
Chr17:80108493 [GRCh38] Chr17:78082292 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2409G>A (p.Gln803=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001480532] |
Chr17:80117677 [GRCh38] Chr17:78091476 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1182C>T (p.Ala394=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001459745] |
Chr17:80108595 [GRCh38] Chr17:78082394 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.91C>T (p.Leu31=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001471846] |
Chr17:80104677 [GRCh38] Chr17:78078476 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2481+7G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001492880] |
Chr17:80117756 [GRCh38] Chr17:78091555 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1776G>A (p.Gly592=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001456098] |
Chr17:80112599 [GRCh38] Chr17:78086398 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.750C>T (p.Thr250=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001500553] |
Chr17:80107614 [GRCh38] Chr17:78081413 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.2665C>T (p.Leu889=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001504261] |
Chr17:80118671 [GRCh38] Chr17:78092470 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1293G>T (p.Leu431=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001466913] |
Chr17:80108795 [GRCh38] Chr17:78082594 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2646+9T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001500672] |
Chr17:80118366 [GRCh38] Chr17:78092165 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.726G>C (p.Ala242=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001472193] |
Chr17:80107590 [GRCh38] Chr17:78081389 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1554C>T (p.Asp518=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001426557] |
Chr17:80110943 [GRCh38] Chr17:78084742 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1716C>T (p.His572=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001493257] |
Chr17:80112062 [GRCh38] Chr17:78085861 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1539C>T (p.Asp513=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001423839] |
Chr17:80110828 [GRCh38] Chr17:78084627 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1056G>A (p.Gln352=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001426786] |
Chr17:80108390 [GRCh38] Chr17:78082189 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.792C>G (p.Leu264=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001501263] |
Chr17:80107656 [GRCh38] Chr17:78081455 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2610A>G (p.Arg870=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001501354] |
Chr17:80118321 [GRCh38] Chr17:78092120 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-4G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001438223] |
Chr17:80113214 [GRCh38] Chr17:78087013 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1195-5T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001424503] |
Chr17:80108692 [GRCh38] Chr17:78082491 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-7C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001443232] |
Chr17:80113211 [GRCh38] Chr17:78087010 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1323C>T (p.Ile441=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001448469] |
Chr17:80108825 [GRCh38] Chr17:78082624 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1637-9C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001438408] |
Chr17:80111974 [GRCh38] Chr17:78085773 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2647-8C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001430315] |
Chr17:80118645 [GRCh38] Chr17:78092444 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2415G>T (p.Val805=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449166]|Glycogen storage disease, type II [RCV001430353] |
Chr17:80117683 [GRCh38] Chr17:78091482 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.621A>G (p.Pro207=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001440950] |
Chr17:80105823 [GRCh38] Chr17:78079622 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+7_858+8insACCGGGC |
insertion |
Glycogen storage disease, type II [RCV001427839] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1754+9C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001448971] |
Chr17:80112109 [GRCh38] Chr17:78085908 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1110C>T (p.Gly370=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001432893] |
Chr17:80108523 [GRCh38] Chr17:78082322 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2482-8C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001446559] |
Chr17:80118185 [GRCh38] Chr17:78091984 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1155C>T (p.Arg385=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001441566] |
Chr17:80108568 [GRCh38] Chr17:78082367 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1065G>A (p.Leu355=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001444273] |
Chr17:80108399 [GRCh38] Chr17:78082198 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+4G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001430577] |
Chr17:80105136 [GRCh38] Chr17:78078935 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.594G>A (p.Pro198=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003375304]|Glycogen storage disease, type II [RCV001446882] |
Chr17:80105796 [GRCh38] Chr17:78079595 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.204C>T (p.Ala68=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001437566] |
Chr17:80104790 [GRCh38] Chr17:78078589 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.603C>T (p.His201=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358960]|Glycogen storage disease, type II [RCV001428783] |
Chr17:80105805 [GRCh38] Chr17:78079604 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2289G>A (p.Val763=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001429339] |
Chr17:80117067 [GRCh38] Chr17:78090866 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.300G>A (p.Gln100=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001441943] |
Chr17:80104886 [GRCh38] Chr17:78078685 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2325G>A (p.Leu775=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449204]|Glycogen storage disease, type II [RCV001447293] |
Chr17:80117103 [GRCh38] Chr17:78090902 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1195-9T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001447333] |
Chr17:80108688 [GRCh38] Chr17:78082487 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.816C>T (p.Ser272=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001437939] |
Chr17:80107680 [GRCh38] Chr17:78081479 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.264C>T (p.Ser88=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001442798] |
Chr17:80104850 [GRCh38] Chr17:78078649 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.783C>A (p.Ala261=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001445187] |
Chr17:80107647 [GRCh38] Chr17:78081446 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+10C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001445499] |
Chr17:80111035 [GRCh38] Chr17:78084834 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2482-8C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001438127] |
Chr17:80118185 [GRCh38] Chr17:78091984 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.849T>C (p.Leu283=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001440455] |
Chr17:80107713 [GRCh38] Chr17:78081512 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.624C>G (p.Leu208=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001439202] |
Chr17:80105826 [GRCh38] Chr17:78079625 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2178C>T (p.Pro726=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432232]|Glycogen storage disease, type II [RCV001442943] |
Chr17:80113355 [GRCh38] Chr17:78087154 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.627C>T (p.Tyr209=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001427491] |
Chr17:80105829 [GRCh38] Chr17:78079628 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1140C>A (p.Ser380=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001464235] |
Chr17:80108553 [GRCh38] Chr17:78082352 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1464C>T (p.Pro488=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001493976] |
Chr17:80110753 [GRCh38] Chr17:78084552 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.408C>T (p.Tyr136=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001457469] |
Chr17:80104994 [GRCh38] Chr17:78078793 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2142C>T (p.His714=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001495284] |
Chr17:80113319 [GRCh38] Chr17:78087118 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2057G>A (p.Ser686Asn) |
single nucleotide variant |
not provided [RCV001507904] |
Chr17:80113234 [GRCh38] Chr17:78087033 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1086C>T (p.Phe362=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001478897] |
Chr17:80108499 [GRCh38] Chr17:78082298 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.859-4C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001461855] |
Chr17:80107796 [GRCh38] Chr17:78081595 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1683C>T (p.Ser561=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001450950] |
Chr17:80112029 [GRCh38] Chr17:78085828 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1986C>T (p.Thr662=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001490758] |
Chr17:80112973 [GRCh38] Chr17:78086772 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-315del |
deletion |
not provided [RCV001679611] |
Chr17:80109625 [GRCh38] Chr17:78083424 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1095A>G (p.Pro365=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003375305]|Glycogen storage disease, type II [RCV001451425] |
Chr17:80108508 [GRCh38] Chr17:78082307 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1137C>G (p.Ser379=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001458451] |
Chr17:80108550 [GRCh38] Chr17:78082349 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.708G>T (p.Val236=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001499539] |
Chr17:80107572 [GRCh38] Chr17:78081371 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+284G>C |
single nucleotide variant |
not provided [RCV001643390] |
Chr17:80111309 [GRCh38] Chr17:78085108 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2205T>C (p.Ser735=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432294]|Glycogen storage disease, type II [RCV001462795] |
Chr17:80116983 [GRCh38] Chr17:78090782 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2189+95C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527104]|not provided [RCV001615221] |
Chr17:80113461 [GRCh38] Chr17:78087260 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1438-108G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527133]|not provided [RCV001712948] |
Chr17:80110619 [GRCh38] Chr17:78084418 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1754+104C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527136]|not provided [RCV001655793] |
Chr17:80112204 [GRCh38] Chr17:78086003 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2040+66C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527138] |
Chr17:80113093 [GRCh38] Chr17:78086892 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2040+11_2040+18dup |
duplication |
Glycogen storage disease, type II [RCV001451776] |
Chr17:80113035..80113036 [GRCh38] Chr17:78086834..78086835 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2331+84C>G |
single nucleotide variant |
not provided [RCV001538709] |
Chr17:80117193 [GRCh38] Chr17:78090992 [GRCh37] Chr17:17q25.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000152.5(GAA):c.1636+269C>T |
single nucleotide variant |
not provided [RCV001613901] |
Chr17:80111294 [GRCh38] Chr17:78085093 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2070G>A (p.Pro690=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421093]|Glycogen storage disease, type II [RCV001476827] |
Chr17:80113247 [GRCh38] Chr17:78087046 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1551+10G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001477024] |
Chr17:80110850 [GRCh38] Chr17:78084649 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1347G>C (p.Ser449=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001480267] |
Chr17:80109965 [GRCh38] Chr17:78083764 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1437+7C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001497386] |
Chr17:80110062 [GRCh38] Chr17:78083861 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1815C>T (p.Gly605=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414127]|Glycogen storage disease, type II [RCV001470134]|not provided [RCV001587424] |
Chr17:80112638 [GRCh38] Chr17:78086437 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2367A>G (p.Pro789=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001483863] |
Chr17:80117635 [GRCh38] Chr17:78091434 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2124C>T (p.His708=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421023]|Glycogen storage disease, type II [RCV001452717] |
Chr17:80113301 [GRCh38] Chr17:78087100 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2608C>A (p.Arg870=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439148]|Glycogen storage disease, type II [RCV001480556] |
Chr17:80118319 [GRCh38] Chr17:78092118 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1212C>T (p.Asp404=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001456486] |
Chr17:80108714 [GRCh38] Chr17:78082513 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1710C>T (p.Asn570=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001504582] |
Chr17:80112056 [GRCh38] Chr17:78085855 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1711C>T (p.Leu571=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001477513] |
Chr17:80112057 [GRCh38] Chr17:78085856 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2235G>A (p.Leu745=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160846]|Glycogen storage disease, type II [RCV001456188] |
Chr17:80117013 [GRCh38] Chr17:78090812 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.708G>A (p.Val236=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001501226] |
Chr17:80107572 [GRCh38] Chr17:78081371 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2800-10T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001456567] |
Chr17:80119262 [GRCh38] Chr17:78093061 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2118C>T (p.Leu706=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160895]|Glycogen storage disease, type II [RCV001467674] |
Chr17:80113295 [GRCh38] Chr17:78087094 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1650G>A (p.Gly550=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001468142] |
Chr17:80111996 [GRCh38] Chr17:78085795 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1656C>A (p.Leu552=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001427287] |
Chr17:80112002 [GRCh38] Chr17:78085801 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1552-8T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001490260] |
Chr17:80110933 [GRCh38] Chr17:78084732 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.525T>C (p.Thr175=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001428742] |
Chr17:80105111 [GRCh38] Chr17:78078910 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+9G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001495713] |
Chr17:80111034 [GRCh38] Chr17:78084833 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.681C>T (p.Asp227=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368460]|Glycogen storage disease, type II [RCV001477725]|not provided [RCV001726566] |
Chr17:80105883 [GRCh38] Chr17:78079682 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2553G>C (p.Gly851=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456904]|Glycogen storage disease, type II [RCV001500106] |
Chr17:80118264 [GRCh38] Chr17:78092063 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.423G>T (p.Leu141=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001506131] |
Chr17:80105009 [GRCh38] Chr17:78078808 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.879G>A (p.Gly293=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001428912] |
Chr17:80107820 [GRCh38] Chr17:78081619 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2163G>A (p.Glu721=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001491175] |
Chr17:80113340 [GRCh38] Chr17:78087139 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.78C>T (p.Leu26=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001503318] |
Chr17:80104664 [GRCh38] Chr17:78078463 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.231A>G (p.Ala77=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449295]|Glycogen storage disease, type II [RCV001491469]|not provided [RCV001575082] |
Chr17:80104817 [GRCh38] Chr17:78078616 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2392A>G (p.Ile798Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001468883] |
Chr17:80117660 [GRCh38] Chr17:78091459 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1639G>A (p.Val547Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001889032] |
Chr17:80111985 [GRCh38] Chr17:78085784 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.996G>A (p.Ser332=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001432087] |
Chr17:80108330 [GRCh38] Chr17:78082129 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.132C>T (p.Gly44=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001496435] |
Chr17:80104718 [GRCh38] Chr17:78078517 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1377C>T (p.Asp459=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003161043]|Glycogen storage disease, type II [RCV001510782] |
Chr17:80109995 [GRCh38] Chr17:78083794 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.1926C>T (p.Val642=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414097]|Glycogen storage disease, type II [RCV001457350] |
Chr17:80112913 [GRCh38] Chr17:78086712 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2331+48C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527106] |
Chr17:80117157 [GRCh38] Chr17:78090956 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1754+144C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527137]|not provided [RCV001658239] |
Chr17:80112244 [GRCh38] Chr17:78086043 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.276C>T (p.Cys92=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439037]|Glycogen storage disease, type II [RCV001440422]|not provided [RCV001726555] |
Chr17:80104862 [GRCh38] Chr17:78078661 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2115C>T (p.Leu705=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001453885] |
Chr17:80113292 [GRCh38] Chr17:78087091 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1906C>T (p.Leu636=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001466037] |
Chr17:80112893 [GRCh38] Chr17:78086692 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1326+8C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001483358] |
Chr17:80108836 [GRCh38] Chr17:78082635 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.859-5C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001467767] |
Chr17:80107795 [GRCh38] Chr17:78081594 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1458C>T (p.Ala486=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001498355] |
Chr17:80110747 [GRCh38] Chr17:78084546 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2647-71G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001527107]|not provided [RCV001712946] |
Chr17:80118582 [GRCh38] Chr17:78092381 [GRCh37] Chr17:17q25.3 |
benign|likely benign |
NM_000152.5(GAA):c.75A>G (p.Ala25=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001454402] |
Chr17:80104661 [GRCh38] Chr17:78078460 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2175G>T (p.Arg725=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001425756] |
Chr17:80113352 [GRCh38] Chr17:78087151 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1719C>T (p.Asn573=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001425822] |
Chr17:80112065 [GRCh38] Chr17:78085864 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2793C>T (p.Asp931=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001466288] |
Chr17:80118799 [GRCh38] Chr17:78092598 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.663C>A (p.Ile221=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001432744] |
Chr17:80105865 [GRCh38] Chr17:78079664 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2466C>T (p.Tyr822=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001463365] |
Chr17:80117734 [GRCh38] Chr17:78091533 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2769C>T (p.Val923=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001463383] |
Chr17:80118775 [GRCh38] Chr17:78092574 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.159C>T (p.His53=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001466430] |
Chr17:80104745 [GRCh38] Chr17:78078544 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2496A>G (p.Thr832=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001505529] |
Chr17:80118207 [GRCh38] Chr17:78092006 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2043C>T (p.Pro681=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001441069] |
Chr17:80113220 [GRCh38] Chr17:78087019 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1704C>T (p.His568=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298794]|Glycogen storage disease, type II [RCV001459415] |
Chr17:80112050 [GRCh38] Chr17:78085849 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.843G>A (p.Arg281=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001426498] |
Chr17:80107707 [GRCh38] Chr17:78081506 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1551+7G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001504239] |
Chr17:80110847 [GRCh38] Chr17:78084646 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.972G>C (p.Pro324=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001485536] |
Chr17:80108306 [GRCh38] Chr17:78082105 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1755-186A>G |
single nucleotide variant |
not provided [RCV001537003] |
Chr17:80112392 [GRCh38] Chr17:78086191 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2189+9C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001425076] |
Chr17:80113375 [GRCh38] Chr17:78087174 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.599T>A (p.Val200Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003108472] |
Chr17:80105801 [GRCh38] Chr17:78079600 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2051C>A (p.Pro684Gln) |
single nucleotide variant |
not specified [RCV002238554] |
Chr17:80113228 [GRCh38] Chr17:78087027 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_78075324)_(78093682_?)dup |
duplication |
not specified [RCV002238555] |
Chr17:78075324..78093682 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2332-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002034486]|not provided [RCV001774199] |
Chr17:80117598 [GRCh38] Chr17:78091397 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.1129_1130delinsC (p.Gly377fs) |
indel |
not provided [RCV001783322] |
Chr17:80108542..80108543 [GRCh38] Chr17:78082341..78082342 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1853_1854insAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCA (p.Trp618Ter) |
insertion |
not provided [RCV001783326] |
Chr17:80112676..80112677 [GRCh38] Chr17:78086475..78086476 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter) |
single nucleotide variant |
not provided [RCV001783331] |
Chr17:80118334 [GRCh38] Chr17:78092133 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1438-2A>C |
single nucleotide variant |
not provided [RCV001783332] |
Chr17:80110725 [GRCh38] Chr17:78084524 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2800-2A>G |
single nucleotide variant |
not provided [RCV001772837] |
Chr17:80119270 [GRCh38] Chr17:78093069 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1834C>A (p.His612Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002251274] |
Chr17:80112657 [GRCh38] Chr17:78086456 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.748A>G (p.Thr250Ala) |
single nucleotide variant |
not provided [RCV001767166] |
Chr17:80107612 [GRCh38] Chr17:78081411 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.766_770del (p.Tyr256fs) |
deletion |
not provided [RCV001783323] |
Chr17:80107630..80107634 [GRCh38] Chr17:78081429..78081433 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2431del (p.Leu811fs) |
deletion |
not provided [RCV001783333] |
Chr17:80117694 [GRCh38] Chr17:78091493 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2481+109_2481+110insGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGT |
insertion |
not provided [RCV001783335] |
Chr17:80117858..80117859 [GRCh38] Chr17:78091657..78091658 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1754+11_1754+12del |
deletion |
not provided [RCV001783336] |
Chr17:80112111..80112112 [GRCh38] Chr17:78085910..78085911 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.29del (p.His10fs) |
deletion |
not provided [RCV001785857] |
Chr17:80104615 [GRCh38] Chr17:78078414 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1559del (p.Asn520fs) |
deletion |
Glycogen storage disease, type II [RCV002541145]|not provided [RCV001785859] |
Chr17:80110947 [GRCh38] Chr17:78084746 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2599G>C (p.Val867Leu) |
single nucleotide variant |
not provided [RCV001770837] |
Chr17:80118310 [GRCh38] Chr17:78092109 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2280_2281insA (p.Ala761fs) |
insertion |
not provided [RCV001783321] |
Chr17:80117058..80117059 [GRCh38] Chr17:78090857..78090858 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1494G>A (p.Trp498Ter) |
single nucleotide variant |
not provided [RCV001783327] |
Chr17:80110783 [GRCh38] Chr17:78084582 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2466C>G (p.Tyr822Ter) |
single nucleotide variant |
not provided [RCV001783337] |
Chr17:80117734 [GRCh38] Chr17:78091533 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2055C>A (p.Tyr685Ter) |
single nucleotide variant |
not provided [RCV001783340] |
Chr17:80113232 [GRCh38] Chr17:78087031 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1377C>G (p.Asp459Glu) |
single nucleotide variant |
not provided [RCV001786986] |
Chr17:80109995 [GRCh38] Chr17:78083794 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2431dup (p.Leu811fs) |
duplication |
Glycogen storage disease, type II [RCV002034563]|not provided [RCV001783325] |
Chr17:80117693..80117694 [GRCh38] Chr17:78091492..78091493 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1846del (p.Asp616fs) |
deletion |
not provided [RCV001783330] |
Chr17:80112665 [GRCh38] Chr17:78086464 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.309C>A (p.Cys103Ter) |
single nucleotide variant |
not provided [RCV001783338] |
Chr17:80104895 [GRCh38] Chr17:78078694 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1057del (p.Gln353fs) |
deletion |
Glycogen storage disease, type II [RCV001789727] |
Chr17:80108391 [GRCh38] Chr17:78082190 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.872T>C (p.Leu291Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001789730] |
Chr17:80107813 [GRCh38] Chr17:78081612 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.560C>G (p.Ala187Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001868443]|not provided [RCV001765275] |
Chr17:80105762 [GRCh38] Chr17:78079561 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.549C>G (p.Ile183Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001868441]|not provided [RCV001763615] |
Chr17:80105751 [GRCh38] Chr17:78079550 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.503G>T (p.Arg168Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001868487]|not provided [RCV001767667] |
Chr17:80105089 [GRCh38] Chr17:78078888 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2385del (p.Glu795fs) |
deletion |
Glycogen storage disease, type II [RCV001789728] |
Chr17:80117653 [GRCh38] Chr17:78091452 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.971dup (p.Ser325fs) |
duplication |
Glycogen storage disease, type II [RCV001789729] |
Chr17:80108303..80108304 [GRCh38] Chr17:78082102..78082103 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003464134]|not provided [RCV001785856] |
Chr17:80113338 [GRCh38] Chr17:78087137 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.3_4delinsTT (p.Met1_Gly2delinsIleTer) |
indel |
not provided [RCV001785858] |
Chr17:80104589..80104590 [GRCh38] Chr17:78078388..78078389 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer) |
deletion |
Glycogen storage disease, type II [RCV003464135]|not provided [RCV001785862] |
Chr17:80105097 [GRCh38] Chr17:78078896 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.757C>T (p.Pro253Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001868476]|not provided [RCV001767416] |
Chr17:80107621 [GRCh38] Chr17:78081420 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1510G>A (p.Ala504Thr) |
single nucleotide variant |
not provided [RCV001768668] |
Chr17:80110799 [GRCh38] Chr17:78084598 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.472A>G (p.Thr158Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001868486]|not provided [RCV001767666] |
Chr17:80105058 [GRCh38] Chr17:78078857 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.454C>G (p.Leu152Val) |
single nucleotide variant |
not provided [RCV001773176] |
Chr17:80105040 [GRCh38] Chr17:78078839 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-32-5C>G |
single nucleotide variant |
not provided [RCV001761352] |
Chr17:80104550 [GRCh38] Chr17:78078349 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1158G>T (p.Gln386His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002540574]|not provided [RCV001765913] |
Chr17:80108571 [GRCh38] Chr17:78082370 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1369C>A (p.Pro457Thr) |
single nucleotide variant |
not provided [RCV001765704] |
Chr17:80109987 [GRCh38] Chr17:78083786 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.995C>A (p.Ser332Ter) |
single nucleotide variant |
not provided [RCV001783328] |
Chr17:80108329 [GRCh38] Chr17:78082128 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2261dup (p.Val755fs) |
duplication |
Glycogen storage disease, type II [RCV001810324]|not provided [RCV001783324] |
Chr17:80117035..80117036 [GRCh38] Chr17:78090834..78090835 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2481+109_2481+110insGCTCGGGGTTGAGAAGGGGTGAGGGGA |
insertion |
not provided [RCV001783329] |
Chr17:80117858..80117859 [GRCh38] Chr17:78091657..78091658 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.827_845del (p.Ile276fs) |
deletion |
Glycogen storage disease, type II [RCV001789732] |
Chr17:80107688..80107706 [GRCh38] Chr17:78081487..78081505 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.955+5_955+6del |
deletion |
not provided [RCV001754144] |
Chr17:80107901..80107902 [GRCh38] Chr17:78081700..78081701 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA] |
insertion |
Glycogen storage disease, type II [RCV001815635] |
Chr17:80114186..80114187 [GRCh38] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001789731] |
Chr17:80105030 [GRCh38] Chr17:78078829 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.301G>T (p.Glu101Ter) |
single nucleotide variant |
not provided [RCV001781146] |
Chr17:80104887 [GRCh38] Chr17:78078686 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1437+3A>G |
single nucleotide variant |
not provided [RCV001752666] |
Chr17:80110058 [GRCh38] Chr17:78083857 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1649G>T (p.Gly550Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001802598] |
Chr17:80111995 [GRCh38] Chr17:78085794 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001806841] |
Chr17:80112094 [GRCh38] Chr17:78085893 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.547-41G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001802379] |
Chr17:80105708 [GRCh38] Chr17:78079507 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1754+11C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001802748] |
Chr17:80112111 [GRCh38] Chr17:78085910 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.960G>A (p.Val320=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002008492] |
Chr17:80108294 [GRCh38] Chr17:78082093 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1184A>T (p.His395Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002008714] |
Chr17:80108597 [GRCh38] Chr17:78082396 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001864623] |
Chr17:80110787 [GRCh38] Chr17:78084586 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2294G>T (p.Gly765Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002020407] |
Chr17:80117072 [GRCh38] Chr17:78090871 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001915038] |
Chr17:80105773 [GRCh38] Chr17:78079572 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1161G>C (p.Val387=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001969941] |
Chr17:80108574 [GRCh38] Chr17:78082373 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001895092] |
Chr17:80110807 [GRCh38] Chr17:78084606 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001838849] |
Chr17:80110742 [GRCh38] Chr17:78084541 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.309C>G (p.Cys103Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001896806] |
Chr17:80104895 [GRCh38] Chr17:78078694 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2189+3G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001913588] |
Chr17:80113369 [GRCh38] Chr17:78087168 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1171A>G (p.Met391Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001889399]|not provided [RCV003146309] |
Chr17:80108584 [GRCh38] Chr17:78082383 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1544T>C (p.Met515Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002008789] |
Chr17:80110833 [GRCh38] Chr17:78084632 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425200]|Glycogen storage disease, type II [RCV001915101] |
Chr17:80113314 [GRCh38] Chr17:78087113 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.809G>A (p.Ser270Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002024922] |
Chr17:80107673 [GRCh38] Chr17:78081472 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.49G>T (p.Ala17Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002043328] |
Chr17:80104635 [GRCh38] Chr17:78078434 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001915280] |
Chr17:80110757 [GRCh38] Chr17:78084556 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001948326] |
Chr17:80108758 [GRCh38] Chr17:78082557 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002045222] |
Chr17:80104894 [GRCh38] Chr17:78078693 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001987489] |
Chr17:80110995 [GRCh38] Chr17:78084794 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1926C>A (p.Val642=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001909366] |
Chr17:80112913 [GRCh38] Chr17:78086712 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1091del (p.Pro364fs) |
deletion |
Glycogen storage disease, type II [RCV002007302] |
Chr17:80108503 [GRCh38] Chr17:78082302 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002025361] |
Chr17:80112699 [GRCh38] Chr17:78086498 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001864080] |
Chr17:80110020 [GRCh38] Chr17:78083819 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001896669] |
Chr17:80110000 [GRCh38] Chr17:78083799 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.764A>G (p.Gln255Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001928089] |
Chr17:80107628 [GRCh38] Chr17:78081427 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001985774] |
Chr17:80113308 [GRCh38] Chr17:78087107 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.396C>G (p.Ser132Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002021521] |
Chr17:80104982 [GRCh38] Chr17:78078781 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs) |
microsatellite |
Glycogen storage disease, type II [RCV001912626] |
Chr17:80112018..80112019 [GRCh38] Chr17:78085817..78085818 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC |
insertion |
Glycogen storage disease, type II [RCV001969194] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001926314] |
Chr17:80112004 [GRCh38] Chr17:78085803 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001947225] |
Chr17:80112690 [GRCh38] Chr17:78086489 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1326+6T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002005592] |
Chr17:80108834 [GRCh38] Chr17:78082633 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs) |
deletion |
Glycogen storage disease, type II [RCV001926598] |
Chr17:80117738..80117739 [GRCh38] Chr17:78091537..78091538 [GRCh37] Chr17:17q25.3 |
pathogenic |
NC_000017.11:g.80101562C>T |
single nucleotide variant |
not provided [RCV001840864] |
Chr17:80101562 [GRCh38] Chr17:78075361 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1762G>A (p.Val588Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001893449] |
Chr17:80112585 [GRCh38] Chr17:78086384 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001968048]|not provided [RCV003136350] |
Chr17:80113005 [GRCh38] Chr17:78086804 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.859-8T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001892006] |
Chr17:80107792 [GRCh38] Chr17:78081591 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002003010]|not provided [RCV003136406] |
Chr17:80110752 [GRCh38] Chr17:78084551 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001893609] |
Chr17:80117742 [GRCh38] Chr17:78091541 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q25.3(chr17:77641336-79465235) |
copy number gain |
not specified [RCV002052607] |
Chr17:77641336..79465235 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_78059792)_(78093130_?)dup |
duplication |
Glycogen storage disease, type II [RCV001872871] |
Chr17:78059792..78093130 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001982756] |
Chr17:80116981 [GRCh38] Chr17:78090780 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.639del (p.Ser214fs) |
deletion |
Glycogen storage disease, type II [RCV001928779] |
Chr17:80105841 [GRCh38] Chr17:78079640 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.976C>T (p.Pro326Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001911834] |
Chr17:80108310 [GRCh38] Chr17:78082109 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001926412] |
Chr17:80117058 [GRCh38] Chr17:78090857 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001946756] |
Chr17:80113286 [GRCh38] Chr17:78087085 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.858+17C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001985995] |
Chr17:80107739 [GRCh38] Chr17:78081538 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.658dup (p.Val220fs) |
duplication |
Glycogen storage disease, type II [RCV001913725] |
Chr17:80105856..80105857 [GRCh38] Chr17:78079655..78079656 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.923A>C (p.His308Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001984443] |
Chr17:80107864 [GRCh38] Chr17:78081663 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002423109]|Glycogen storage disease, type II [RCV001967690] |
Chr17:80112992 [GRCh38] Chr17:78086791 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.954G>A (p.Met318Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001895322] |
Chr17:80107895 [GRCh38] Chr17:78081694 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2651C>T (p.Thr884Met) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001987603] |
Chr17:80118657 [GRCh38] Chr17:78092456 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.995C>T (p.Ser332Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001928267] |
Chr17:80108329 [GRCh38] Chr17:78082128 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001891635] |
Chr17:80110743 [GRCh38] Chr17:78084542 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2345C>T (p.Ala782Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001926579] |
Chr17:80117613 [GRCh38] Chr17:78091412 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001927917] |
Chr17:80118263 [GRCh38] Chr17:78092062 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002043733] |
Chr17:80108809 [GRCh38] Chr17:78082608 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.433G>A (p.Glu145Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001871228] |
Chr17:80105019 [GRCh38] Chr17:78078818 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.593C>A (p.Pro198Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002040879] |
Chr17:80105795 [GRCh38] Chr17:78079594 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_78010462)_(78158057_?)dup |
duplication |
Pityriasis rubra pilaris [RCV001984545] |
Chr17:78010462..78158057 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1637-10_1637-9delinsGA |
indel |
Glycogen storage disease, type II [RCV001872270] |
Chr17:80111973..80111974 [GRCh38] Chr17:78085772..78085773 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.775G>A (p.Gly259Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002022562] |
Chr17:80107639 [GRCh38] Chr17:78081438 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001964252] |
Chr17:80113297 [GRCh38] Chr17:78087096 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.41C>T (p.Ala14Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001984491] |
Chr17:80104627 [GRCh38] Chr17:78078426 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1650del (p.Thr551fs) |
deletion |
Glycogen storage disease, type II [RCV001872388] |
Chr17:80111991 [GRCh38] Chr17:78085790 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.961G>A (p.Val321Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001966343] |
Chr17:80108295 [GRCh38] Chr17:78082094 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.528_529del (p.Asn177fs) |
microsatellite |
Glycogen storage disease, type II [RCV002039568] |
Chr17:80105112..80105113 [GRCh38] Chr17:78078911..78078912 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2522T>C (p.Met841Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001962837] |
Chr17:80118233 [GRCh38] Chr17:78092032 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001887204] |
Chr17:80112006 [GRCh38] Chr17:78085805 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2332-16C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002037981] |
Chr17:80117584 [GRCh38] Chr17:78091383 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002011686] |
Chr17:80112621 [GRCh38] Chr17:78086420 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.927G>T (p.Gly309=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001887238] |
Chr17:80107868 [GRCh38] Chr17:78081667 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001880433]|not provided [RCV003136211] |
Chr17:80108531 [GRCh38] Chr17:78082330 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2782T>C (p.Tyr928His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001998851] |
Chr17:80118788 [GRCh38] Chr17:78092587 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001943251] |
Chr17:80111017 [GRCh38] Chr17:78084816 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1059G>C (p.Gln353His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001944760]|not provided [RCV003146281] |
Chr17:80108393 [GRCh38] Chr17:78082192 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1194+3G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001931325] |
Chr17:80108610 [GRCh38] Chr17:78082409 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1076-3C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001920859]|not provided [RCV003134240] |
Chr17:80108486 [GRCh38] Chr17:78082285 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.355G>T (p.Gly119Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001941834] |
Chr17:80104941 [GRCh38] Chr17:78078740 [GRCh37] Chr17:17q25.3 |
pathogenic |
NC_000017.10:g.(?_78090757)_(78092614_?)del |
deletion |
Glycogen storage disease, type II [RCV001939544] |
Chr17:78090757..78092614 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1636+17C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001999817] |
Chr17:80111042 [GRCh38] Chr17:78084841 [GRCh37] Chr17:17q25.3 |
likely benign |
NC_000017.10:g.(?_78081346)_(78087175_?)del |
deletion |
Glycogen storage disease, type II [RCV001941957] |
Chr17:78081346..78087175 [GRCh37] Chr17:17q25.3 |
pathogenic |
NC_000017.10:g.(?_78032273)_(78163691_?)dup |
duplication |
Pityriasis rubra pilaris [RCV001923218] |
Chr17:78032273..78163691 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.789C>T (p.His263=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001906328] |
Chr17:80107653 [GRCh38] Chr17:78081452 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1319T>C (p.Met440Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001866447] |
Chr17:80108821 [GRCh38] Chr17:78082620 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2527C>G (p.Leu843Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002049880] |
Chr17:80118238 [GRCh38] Chr17:78092037 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1741A>G (p.Ile581Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002049900] |
Chr17:80112087 [GRCh38] Chr17:78085886 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.16C>T (p.Pro6Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001887422] |
Chr17:80104602 [GRCh38] Chr17:78078401 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002031456] |
Chr17:80117017 [GRCh38] Chr17:78090816 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2723G>T (p.Gly908Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001994431] |
Chr17:80118729 [GRCh38] Chr17:78092528 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002035896] |
Chr17:80110954 [GRCh38] Chr17:78084753 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2647-15C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001999548] |
Chr17:80118638 [GRCh38] Chr17:78092437 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met) |
inversion |
Glycogen storage disease, type II [RCV001962728] |
Chr17:80113309..80113310 [GRCh38] Chr17:78087108..78087109 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002029051] |
Chr17:80110974 [GRCh38] Chr17:78084773 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs) |
indel |
Glycogen storage disease, type II [RCV001993248] |
Chr17:80108800..80108803 [GRCh38] Chr17:78082599..78082602 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs) |
deletion |
Glycogen storage disease, type II [RCV002037947] |
Chr17:80109994..80109995 [GRCh38] Chr17:78083793..78083794 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.54C>G (p.Leu18=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002000191] |
Chr17:80104640 [GRCh38] Chr17:78078439 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.583T>G (p.Leu195Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002011349] |
Chr17:80105785 [GRCh38] Chr17:78079584 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.804G>A (p.Met268Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002036292] |
Chr17:80107668 [GRCh38] Chr17:78081467 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2218G>T (p.Val740Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001981354] |
Chr17:80116996 [GRCh38] Chr17:78090795 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2095dup (p.Leu699fs) |
duplication |
Glycogen storage disease, type II [RCV001972572] |
Chr17:80113269..80113270 [GRCh38] Chr17:78087068..78087069 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.298C>A (p.Gln100Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001992440] |
Chr17:80104884 [GRCh38] Chr17:78078683 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001902461] |
Chr17:80118197 [GRCh38] Chr17:78091996 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1376A>T (p.Asp459Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002028157] |
Chr17:80109994 [GRCh38] Chr17:78083793 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.693-13C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001903706] |
Chr17:80107544 [GRCh38] Chr17:78081343 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.467C>T (p.Thr156Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001936991] |
Chr17:80105053 [GRCh38] Chr17:78078852 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001870398]|not provided [RCV003132563] |
Chr17:80118247 [GRCh38] Chr17:78092046 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001992590] |
Chr17:80109979 [GRCh38] Chr17:78083778 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.69C>A (p.Thr23=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003166960]|Glycogen storage disease, type II [RCV001898007] |
Chr17:80104655 [GRCh38] Chr17:78078454 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002032125] |
Chr17:80110745 [GRCh38] Chr17:78084544 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001899296] |
Chr17:80104857 [GRCh38] Chr17:78078656 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002027207] |
Chr17:80113287 [GRCh38] Chr17:78087086 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1082dup (p.Phe362fs) |
duplication |
Glycogen storage disease, type II [RCV001955897] |
Chr17:80108492..80108493 [GRCh38] Chr17:78082291..78082292 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1076-1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002049620] |
Chr17:80108488 [GRCh38] Chr17:78082287 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.858+5A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001867734] |
Chr17:80107727 [GRCh38] Chr17:78081526 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002009697] |
Chr17:80117020 [GRCh38] Chr17:78090819 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.703A>G (p.Thr235Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001935552] |
Chr17:80107567 [GRCh38] Chr17:78081366 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-32-3C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002015927] |
Chr17:80104552 [GRCh38] Chr17:78078351 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001881986] |
Chr17:80112597 [GRCh38] Chr17:78086396 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1075+2T>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002046393] |
Chr17:80108411 [GRCh38] Chr17:78082210 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.782C>T (p.Ala261Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001901385] |
Chr17:80107646 [GRCh38] Chr17:78081445 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002029184] |
Chr17:80118229 [GRCh38] Chr17:78092028 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.304C>T (p.Gln102Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001994841] |
Chr17:80104890 [GRCh38] Chr17:78078689 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2124C>G (p.His708Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001866995] |
Chr17:80113301 [GRCh38] Chr17:78087100 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.467C>A (p.Thr156Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002030333] |
Chr17:80105053 [GRCh38] Chr17:78078852 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.98A>G (p.His33Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001897622] |
Chr17:80104684 [GRCh38] Chr17:78078483 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001875730] |
Chr17:80108778 [GRCh38] Chr17:78082577 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) |
duplication |
Glycogen storage disease, type II [RCV001918855] |
Chr17:80112915..80112916 [GRCh38] Chr17:78086714..78086715 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.974G>A (p.Ser325Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001933615] |
Chr17:80108308 [GRCh38] Chr17:78082107 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.456_457dup (p.Thr153fs) |
duplication |
Glycogen storage disease, type II [RCV001996981] |
Chr17:80105041..80105042 [GRCh38] Chr17:78078840..78078841 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.899C>A (p.Ala300Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001906340] |
Chr17:80107840 [GRCh38] Chr17:78081639 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2166_2167insTGCGAC (p.Thr722_Val723insCysAsp) |
insertion |
Glycogen storage disease, type II [RCV001972760] |
Chr17:80113342..80113343 [GRCh38] Chr17:78087141..78087142 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001883863]|not provided [RCV003146300] |
Chr17:80113270 [GRCh38] Chr17:78087069 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001961567] |
Chr17:80113308 [GRCh38] Chr17:78087107 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001961575] |
Chr17:80113287 [GRCh38] Chr17:78087086 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002048342] |
Chr17:80110803 [GRCh38] Chr17:78084602 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1975G>C (p.Val659Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001936223] |
Chr17:80112962 [GRCh38] Chr17:78086761 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001905935] |
Chr17:80108775 [GRCh38] Chr17:78082574 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.289G>A (p.Ala97Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001973348] |
Chr17:80104875 [GRCh38] Chr17:78078674 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001923535] |
Chr17:80110791 [GRCh38] Chr17:78084590 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.361C>T (p.Gln121Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001876861] |
Chr17:80104947 [GRCh38] Chr17:78078746 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.859-10C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001993055] |
Chr17:80107790 [GRCh38] Chr17:78081589 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002033332]|not provided [RCV002261395] |
Chr17:80112890 [GRCh38] Chr17:78086689 [GRCh37] Chr17:17q25.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002030183] |
Chr17:80108337 [GRCh38] Chr17:78082136 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002407047]|Glycogen storage disease, type II [RCV001906717] |
Chr17:80112646 [GRCh38] Chr17:78086445 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_78082486)_(78087175_?)del |
deletion |
Glycogen storage disease, type II [RCV001952517] |
Chr17:78082486..78087175 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1575dup (p.Ile526fs) |
duplication |
Glycogen storage disease, type II [RCV002035298] |
Chr17:80110963..80110964 [GRCh38] Chr17:78084762..78084763 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2084T>C (p.Met695Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002027760] |
Chr17:80113261 [GRCh38] Chr17:78087060 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001978246] |
Chr17:80117048 [GRCh38] Chr17:78090847 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001904391] |
Chr17:80108510 [GRCh38] Chr17:78082309 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1173G>A (p.Met391Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002019215] |
Chr17:80108586 [GRCh38] Chr17:78082385 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.151G>A (p.Glu51Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001907344] |
Chr17:80104737 [GRCh38] Chr17:78078536 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001918845] |
Chr17:80112669 [GRCh38] Chr17:78086468 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1846dup (p.Asp616fs) |
duplication |
Glycogen storage disease, type II [RCV001926117] |
Chr17:80112664..80112665 [GRCh38] Chr17:78086463..78086464 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002049131] |
Chr17:80110961 [GRCh38] Chr17:78084760 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.716T>C (p.Leu239Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001990799] |
Chr17:80107580 [GRCh38] Chr17:78081379 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1184A>G (p.His395Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001957418] |
Chr17:80108597 [GRCh38] Chr17:78082396 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1987del (p.Gln663fs) |
deletion |
Glycogen storage disease, type II [RCV001939568] |
Chr17:80112972 [GRCh38] Chr17:78086771 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2735C>T (p.Ala912Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001918948] |
Chr17:80118741 [GRCh38] Chr17:78092540 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.859-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002030510] |
Chr17:80107798 [GRCh38] Chr17:78081597 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn) |
indel |
Glycogen storage disease, type II [RCV001958884] |
Chr17:80109992..80109993 [GRCh38] Chr17:78083791..78083792 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1809del (p.Phe603fs) |
deletion |
Glycogen storage disease, type II [RCV002035385] |
Chr17:80112630 [GRCh38] Chr17:78086429 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.547-1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001959745] |
Chr17:80105748 [GRCh38] Chr17:78079547 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1326+20G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV001906053] |
Chr17:80108848 [GRCh38] Chr17:78082647 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1637-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001960734] |
Chr17:80111981 [GRCh38] Chr17:78085780 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup) |
duplication |
Glycogen storage disease, type II [RCV002017405] |
Chr17:80104902..80104903 [GRCh38] Chr17:78078701..78078702 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.427T>G (p.Ser143Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002048680] |
Chr17:80105013 [GRCh38] Chr17:78078812 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.347G>A (p.Gly116Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002015003]|not provided [RCV003138021] |
Chr17:80104933 [GRCh38] Chr17:78078732 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.781G>C (p.Ala261Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001866976] |
Chr17:80107645 [GRCh38] Chr17:78081444 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.214C>A (p.Pro72Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001919326] |
Chr17:80104800 [GRCh38] Chr17:78078599 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1557G>A (p.Met519Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001933170] |
Chr17:80110946 [GRCh38] Chr17:78084745 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.693-5C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV001922684] |
Chr17:80107552 [GRCh38] Chr17:78081351 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.144C>T (p.Val48=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388904]|Glycogen storage disease, type II [RCV001978927] |
Chr17:80104730 [GRCh38] Chr17:78078529 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup) |
duplication |
Glycogen storage disease, type II [RCV001867048] |
Chr17:80108733..80108734 [GRCh38] Chr17:78082532..78082533 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2040+1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV001952864] |
Chr17:80113028 [GRCh38] Chr17:78086827 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.348G>T (p.Gly116=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001993538] |
Chr17:80104934 [GRCh38] Chr17:78078733 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.688G>C (p.Val230Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001978962] |
Chr17:80105890 [GRCh38] Chr17:78079689 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.590C>A (p.Thr197Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002047111] |
Chr17:80105792 [GRCh38] Chr17:78079591 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs) |
deletion |
Glycogen storage disease, type II [RCV001955091] |
Chr17:80117089..80117098 [GRCh38] Chr17:78090888..78090897 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1610del (p.Glu537fs) |
deletion |
Glycogen storage disease, type II [RCV001937792]|not provided [RCV003458105] |
Chr17:80110999 [GRCh38] Chr17:78084798 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.883C>T (p.His295Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001877587] |
Chr17:80107824 [GRCh38] Chr17:78081623 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1552-3C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002047371] |
Chr17:80110938 [GRCh38] Chr17:78084737 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.693-1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002015607] |
Chr17:80107556 [GRCh38] Chr17:78081355 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1437+7C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002027729] |
Chr17:80110062 [GRCh38] Chr17:78083861 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.2481+15C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV001991385] |
Chr17:80117764 [GRCh38] Chr17:78091563 [GRCh37] Chr17:17q25.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000152.5(GAA):c.1049T>C (p.Val350Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002015848] |
Chr17:80108383 [GRCh38] Chr17:78082182 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2338G>C (p.Val780Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV001976117] |
Chr17:80117606 [GRCh38] Chr17:78091405 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2332-8C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002105255] |
Chr17:80117592 [GRCh38] Chr17:78091391 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2655C>A (p.Ile885=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002168216] |
Chr17:80118661 [GRCh38] Chr17:78092460 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2088G>A (p.Arg696=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002073550] |
Chr17:80113265 [GRCh38] Chr17:78087064 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1455T>C (p.Thr485=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002084732] |
Chr17:80110744 [GRCh38] Chr17:78084543 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2550T>G (p.Gly850=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002208615] |
Chr17:80118261 [GRCh38] Chr17:78092060 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.384C>T (p.Phe128=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002361491]|Glycogen storage disease, type II [RCV002086129] |
Chr17:80104970 [GRCh38] Chr17:78078769 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2796C>T (p.Thr932=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002166362] |
Chr17:80118802 [GRCh38] Chr17:78092601 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+7A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002074503] |
Chr17:80105139 [GRCh38] Chr17:78078938 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1637-11G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002107310] |
Chr17:80111972 [GRCh38] Chr17:78085771 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.255C>G (p.Pro85=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003303708]|Glycogen storage disease, type II [RCV002165212] |
Chr17:80104841 [GRCh38] Chr17:78078640 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2189+9C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002192540] |
Chr17:80113375 [GRCh38] Chr17:78087174 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1438-6G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002207846] |
Chr17:80110721 [GRCh38] Chr17:78084520 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.692+12G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002090808] |
Chr17:80105906 [GRCh38] Chr17:78079705 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2482-19C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002147119] |
Chr17:80118174 [GRCh38] Chr17:78091973 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1359G>A (p.Gly453=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002168596] |
Chr17:80109977 [GRCh38] Chr17:78083776 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2824T>C (p.Leu942=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002148956] |
Chr17:80119296 [GRCh38] Chr17:78093095 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1326+20G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002148958] |
Chr17:80108848 [GRCh38] Chr17:78082647 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.693-6C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002187047] |
Chr17:80107551 [GRCh38] Chr17:78081350 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.759C>T (p.Pro253=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002187078] |
Chr17:80107623 [GRCh38] Chr17:78081422 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1194+11del |
deletion |
Glycogen storage disease, type II [RCV002124640] |
Chr17:80108615 [GRCh38] Chr17:78082414 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.692+12G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002127937] |
Chr17:80105906 [GRCh38] Chr17:78079705 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.774A>C (p.Thr258=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002075207] |
Chr17:80107638 [GRCh38] Chr17:78081437 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1637-17G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002111782] |
Chr17:80111966 [GRCh38] Chr17:78085765 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1437+15C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002091424] |
Chr17:80110070 [GRCh38] Chr17:78083869 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.135C>T (p.Ser45=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002104735] |
Chr17:80104721 [GRCh38] Chr17:78078520 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.156T>A (p.Thr52=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002205222] |
Chr17:80104742 [GRCh38] Chr17:78078541 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1075+14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002189702] |
Chr17:80108423 [GRCh38] Chr17:78082222 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.956-8C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002147813] |
Chr17:80108282 [GRCh38] Chr17:78082081 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2235G>C (p.Leu745=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002071156] |
Chr17:80117013 [GRCh38] Chr17:78090812 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2289G>C (p.Val763=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002111361] |
Chr17:80117067 [GRCh38] Chr17:78090866 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1076-12del |
deletion |
Glycogen storage disease, type II [RCV002089621] |
Chr17:80108477 [GRCh38] Chr17:78082276 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.547-4C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002071634] |
Chr17:80105745 [GRCh38] Chr17:78079544 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1438-13T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002109629] |
Chr17:80110714 [GRCh38] Chr17:78084513 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1026C>T (p.Phe342=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002188957] |
Chr17:80108360 [GRCh38] Chr17:78082159 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2337A>G (p.Pro779=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003308051]|Glycogen storage disease, type II [RCV002210805] |
Chr17:80117605 [GRCh38] Chr17:78091404 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1754+8C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002105150] |
Chr17:80112108 [GRCh38] Chr17:78085907 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2799+18G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002165163] |
Chr17:80118823 [GRCh38] Chr17:78092622 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2229G>A (p.Gln743=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002168263] |
Chr17:80117007 [GRCh38] Chr17:78090806 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2740dup (p.Gln914fs) |
duplication |
Glycogen storage disease, type II [RCV002250001] |
Chr17:80118742..80118743 [GRCh38] Chr17:78092541..78092542 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1185C>T (p.His395=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002186627] |
Chr17:80108598 [GRCh38] Chr17:78082397 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.735C>T (p.Phe245=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002110340] |
Chr17:80107599 [GRCh38] Chr17:78081398 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2799+10C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002087764] |
Chr17:80118815 [GRCh38] Chr17:78092614 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.996G>T (p.Ser332=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002105484] |
Chr17:80108330 [GRCh38] Chr17:78082129 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.693-13C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002071171] |
Chr17:80107544 [GRCh38] Chr17:78081343 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.198G>A (p.Arg66=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002167036] |
Chr17:80104784 [GRCh38] Chr17:78078583 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1791G>C (p.Val597=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409481]|Glycogen storage disease, type II [RCV002090787] |
Chr17:80112614 [GRCh38] Chr17:78086413 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.48C>T (p.Cys16=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002091577] |
Chr17:80104634 [GRCh38] Chr17:78078433 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2028C>T (p.Ser676=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002189729] |
Chr17:80113015 [GRCh38] Chr17:78086814 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1552-7C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002106822] |
Chr17:80110934 [GRCh38] Chr17:78084733 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.846C>T (p.Asp282=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002126098] |
Chr17:80107710 [GRCh38] Chr17:78081509 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1098C>T (p.Tyr366=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002148053] |
Chr17:80108511 [GRCh38] Chr17:78082310 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.450C>G (p.Ala150=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002337250]|Glycogen storage disease, type II [RCV002075087] |
Chr17:80105036 [GRCh38] Chr17:78078835 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1395G>A (p.Gly465=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002108697] |
Chr17:80110013 [GRCh38] Chr17:78083812 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2418G>T (p.Thr806=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002146562] |
Chr17:80117686 [GRCh38] Chr17:78091485 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2439C>T (p.Thr813=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002071570] |
Chr17:80117707 [GRCh38] Chr17:78091506 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1509G>A (p.Val503=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002092371] |
Chr17:80110798 [GRCh38] Chr17:78084597 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.859-19C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002167909] |
Chr17:80107781 [GRCh38] Chr17:78081580 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1107G>T (p.Leu369=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427563]|Glycogen storage disease, type II [RCV002185057] |
Chr17:80108520 [GRCh38] Chr17:78082319 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1311C>T (p.Arg437=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002072537] |
Chr17:80108813 [GRCh38] Chr17:78082612 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.108G>T (p.Leu36=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002131254] |
Chr17:80104694 [GRCh38] Chr17:78078493 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+12A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002111016] |
Chr17:80105144 [GRCh38] Chr17:78078943 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.651C>A (p.Pro217=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002152886] |
Chr17:80105853 [GRCh38] Chr17:78079652 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+9G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002165605] |
Chr17:80105141 [GRCh38] Chr17:78078940 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+10C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002146063] |
Chr17:80111035 [GRCh38] Chr17:78084834 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+10C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002150003] |
Chr17:80111035 [GRCh38] Chr17:78084834 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.75A>C (p.Ala25=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002076207] |
Chr17:80104661 [GRCh38] Chr17:78078460 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.456G>T (p.Leu152=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002113014] |
Chr17:80105042 [GRCh38] Chr17:78078841 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1764G>A (p.Val588=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002076644] |
Chr17:80112587 [GRCh38] Chr17:78086386 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1188C>T (p.Phe396=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002080959] |
Chr17:80108601 [GRCh38] Chr17:78082400 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+18G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002095047] |
Chr17:80107740 [GRCh38] Chr17:78081539 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.468C>G (p.Thr156=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002214972] |
Chr17:80105054 [GRCh38] Chr17:78078853 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1438-11T>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002196816] |
Chr17:80110716 [GRCh38] Chr17:78084515 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2593C>T (p.Leu865=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002127839] |
Chr17:80118304 [GRCh38] Chr17:78092103 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2331+14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002091661] |
Chr17:80117123 [GRCh38] Chr17:78090922 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+5_858+11dup |
duplication |
Glycogen storage disease, type II [RCV002135180] |
Chr17:80107726..80107727 [GRCh38] Chr17:78081525..78081526 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+12_546+17del |
deletion |
Glycogen storage disease, type II [RCV002128017] |
Chr17:80105140..80105145 [GRCh38] Chr17:78078939..78078944 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2481+14G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002091921] |
Chr17:80117763 [GRCh38] Chr17:78091562 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.956-4C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002194338] |
Chr17:80108286 [GRCh38] Chr17:78082085 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1164G>A (p.Val388=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325670]|Glycogen storage disease, type II [RCV002115051] |
Chr17:80108577 [GRCh38] Chr17:78082376 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1857C>T (p.Ser619=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409495]|Glycogen storage disease, type II [RCV002095242] |
Chr17:80112680 [GRCh38] Chr17:78086479 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2331+11G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002173353] |
Chr17:80117120 [GRCh38] Chr17:78090919 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.873C>T (p.Leu291=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002095083] |
Chr17:80107814 [GRCh38] Chr17:78081613 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.774A>G (p.Thr258=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002075472] |
Chr17:80107638 [GRCh38] Chr17:78081437 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1889-12_1889-11del |
microsatellite |
Glycogen storage disease, type II [RCV002113666] |
Chr17:80112862..80112863 [GRCh38] Chr17:78086661..78086662 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.955+14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002080454] |
Chr17:80107910 [GRCh38] Chr17:78081709 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.930G>A (p.Val310=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002117081] |
Chr17:80107871 [GRCh38] Chr17:78081670 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2223C>T (p.Asp741=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002075657] |
Chr17:80117001 [GRCh38] Chr17:78090800 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1326+15A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002116860] |
Chr17:80108843 [GRCh38] Chr17:78082642 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+16G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002174874] |
Chr17:80105148 [GRCh38] Chr17:78078947 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1194+16_1194+18del |
deletion |
Glycogen storage disease, type II [RCV002110296] |
Chr17:80108623..80108625 [GRCh38] Chr17:78082422..78082424 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1551+10dup |
duplication |
Glycogen storage disease, type II [RCV002079435] |
Chr17:80110848..80110849 [GRCh38] Chr17:78084647..78084648 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1076-15G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002174110] |
Chr17:80108474 [GRCh38] Chr17:78082273 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2052G>T (p.Pro684=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002153628] |
Chr17:80113229 [GRCh38] Chr17:78087028 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2331+16C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002175139] |
Chr17:80117125 [GRCh38] Chr17:78090924 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.267C>T (p.Arg89=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002078320] |
Chr17:80104853 [GRCh38] Chr17:78078652 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2248C>T (p.Leu750=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002197169] |
Chr17:80117026 [GRCh38] Chr17:78090825 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2463G>T (p.Gly821=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443126]|Glycogen storage disease, type II [RCV002195390] |
Chr17:80117731 [GRCh38] Chr17:78091530 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+11G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002173567] |
Chr17:80107733 [GRCh38] Chr17:78081532 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.180C>G (p.Ala60=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002195396] |
Chr17:80104766 [GRCh38] Chr17:78078565 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.126G>C (p.Leu42=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002188251] |
Chr17:80104712 [GRCh38] Chr17:78078511 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.594G>T (p.Pro198=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002129033] |
Chr17:80105796 [GRCh38] Chr17:78079595 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2472C>T (p.Ile824=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002130908] |
Chr17:80117740 [GRCh38] Chr17:78091539 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2625G>A (p.Gln875=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002151052] |
Chr17:80118336 [GRCh38] Chr17:78092135 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1008C>A (p.Ile336=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002115438] |
Chr17:80108342 [GRCh38] Chr17:78082141 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2190-20T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002104588] |
Chr17:80116948 [GRCh38] Chr17:78090747 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.147G>A (p.Leu49=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002194208] |
Chr17:80104733 [GRCh38] Chr17:78078532 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002105592] |
Chr17:80113204 [GRCh38] Chr17:78087003 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1200C>G (p.Val400=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346532]|Glycogen storage disease, type II [RCV002169244] |
Chr17:80108702 [GRCh38] Chr17:78082501 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1878C>T (p.Ser626=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002113435] |
Chr17:80112701 [GRCh38] Chr17:78086500 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1119G>A (p.Leu373=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002214039] |
Chr17:80108532 [GRCh38] Chr17:78082331 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1637-10C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002096205] |
Chr17:80111973 [GRCh38] Chr17:78085772 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1754+16C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002091906] |
Chr17:80112116 [GRCh38] Chr17:78085915 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1888+18G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002149638] |
Chr17:80112729 [GRCh38] Chr17:78086528 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2646+11G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002113697] |
Chr17:80118368 [GRCh38] Chr17:78092167 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.900G>T (p.Ala300=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002172507] |
Chr17:80107841 [GRCh38] Chr17:78081640 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2211C>G (p.Thr737=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002116695] |
Chr17:80116989 [GRCh38] Chr17:78090788 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.99T>C (p.His33=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002173880] |
Chr17:80104685 [GRCh38] Chr17:78078484 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2029C>T (p.Leu677=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002192424] |
Chr17:80113016 [GRCh38] Chr17:78086815 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.564C>T (p.Asn188=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002169960] |
Chr17:80105766 [GRCh38] Chr17:78079565 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.657G>A (p.Gly219=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002114303] |
Chr17:80105859 [GRCh38] Chr17:78079658 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2647-10C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002113842] |
Chr17:80118643 [GRCh38] Chr17:78092442 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1962A>G (p.Ser654=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002193995] |
Chr17:80112949 [GRCh38] Chr17:78086748 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.594G>C (p.Pro198=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002209042] |
Chr17:80105796 [GRCh38] Chr17:78079595 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2619C>T (p.Tyr873=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002194616] |
Chr17:80118330 [GRCh38] Chr17:78092129 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.956-11T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002157352] |
Chr17:80108279 [GRCh38] Chr17:78082078 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.633G>A (p.Val211=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002156184] |
Chr17:80105835 [GRCh38] Chr17:78079634 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1230C>A (p.Ser410=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002179327] |
Chr17:80108732 [GRCh38] Chr17:78082531 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1437+8G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002177701] |
Chr17:80110063 [GRCh38] Chr17:78083862 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+17C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002198722] |
Chr17:80105149 [GRCh38] Chr17:78078948 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.618C>A (p.Ser206=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002099044] |
Chr17:80105820 [GRCh38] Chr17:78079619 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2800-6T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002199090] |
Chr17:80119266 [GRCh38] Chr17:78093065 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.79C>T (p.Leu27=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002103133] |
Chr17:80104665 [GRCh38] Chr17:78078464 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1438-9G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002178457] |
Chr17:80110718 [GRCh38] Chr17:78084517 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1076-14G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002218451] |
Chr17:80108475 [GRCh38] Chr17:78082274 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.956-17A>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002154200] |
Chr17:80108273 [GRCh38] Chr17:78082072 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2112A>G (p.Ala704=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002183058] |
Chr17:80113289 [GRCh38] Chr17:78087088 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2766T>C (p.Pro922=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002163386] |
Chr17:80118772 [GRCh38] Chr17:78092571 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1076-16C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002218858] |
Chr17:80108473 [GRCh38] Chr17:78082272 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1017C>T (p.Val339=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002156366] |
Chr17:80108351 [GRCh38] Chr17:78082150 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1062C>T (p.Tyr354=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002177669] |
Chr17:80108396 [GRCh38] Chr17:78082195 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-19_1327-18inv |
inversion |
Glycogen storage disease, type II [RCV002136017] |
Chr17:80109926..80109927 [GRCh38] Chr17:78083725..78083726 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-20A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002102440] |
Chr17:80109925 [GRCh38] Chr17:78083724 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.955+15G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002162068] |
Chr17:80107911 [GRCh38] Chr17:78081710 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1698C>T (p.Ser566=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002177835] |
Chr17:80112044 [GRCh38] Chr17:78085843 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2826G>A (p.Leu942=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002100730] |
Chr17:80119298 [GRCh38] Chr17:78093097 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.547-9C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002181890] |
Chr17:80105740 [GRCh38] Chr17:78079539 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1797C>A (p.Ser599=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002198739] |
Chr17:80112620 [GRCh38] Chr17:78086419 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1296C>T (p.His432=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002156796] |
Chr17:80108798 [GRCh38] Chr17:78082597 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2385G>A (p.Glu795=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002183773] |
Chr17:80117653 [GRCh38] Chr17:78091452 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2706G>A (p.Gln902=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002120607] |
Chr17:80118712 [GRCh38] Chr17:78092511 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.459C>G (p.Thr153=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002142312] |
Chr17:80105045 [GRCh38] Chr17:78078844 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2259C>T (p.Thr753=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002162668] |
Chr17:80117037 [GRCh38] Chr17:78090836 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.579G>A (p.Val193=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002164381] |
Chr17:80105781 [GRCh38] Chr17:78079580 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2148C>G (p.Ala716=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002217734] |
Chr17:80113325 [GRCh38] Chr17:78087124 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1728C>G (p.Gly576=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002161087] |
Chr17:80112074 [GRCh38] Chr17:78085873 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2647-11G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002162795] |
Chr17:80118642 [GRCh38] Chr17:78092441 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2646+7C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002142492] |
Chr17:80118364 [GRCh38] Chr17:78092163 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1194+10G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002164612] |
Chr17:80108617 [GRCh38] Chr17:78082416 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.501_502delinsAA (p.Leu167_Arg168=) |
indel |
Glycogen storage disease, type II [RCV002220205] |
Chr17:80105087..80105088 [GRCh38] Chr17:78078886..78078887 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1755-11C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002122604] |
Chr17:80112567 [GRCh38] Chr17:78086366 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-9G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002162685] |
Chr17:80113209 [GRCh38] Chr17:78087008 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1020C>T (p.Tyr340=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002199619] |
Chr17:80108354 [GRCh38] Chr17:78082153 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.207G>A (p.Gln69=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002137103] |
Chr17:80104793 [GRCh38] Chr17:78078592 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.955+17C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002201458] |
Chr17:80107913 [GRCh38] Chr17:78081712 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2730C>A (p.Ala910=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002139049] |
Chr17:80118736 [GRCh38] Chr17:78092535 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1668C>T (p.Thr556=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002218557] |
Chr17:80112014 [GRCh38] Chr17:78085813 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.642C>A (p.Ser214=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002201646] |
Chr17:80105844 [GRCh38] Chr17:78079643 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.234G>T (p.Val78=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443248]|Glycogen storage disease, type II [RCV002163129] |
Chr17:80104820 [GRCh38] Chr17:78078619 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1572C>T (p.Asn524=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002137681] |
Chr17:80110961 [GRCh38] Chr17:78084760 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1009C>T (p.Leu337=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002180718] |
Chr17:80108343 [GRCh38] Chr17:78082142 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.692+16T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002201765] |
Chr17:80105910 [GRCh38] Chr17:78079709 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-16G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002198191] |
Chr17:80109929 [GRCh38] Chr17:78083728 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1636+14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002202147] |
Chr17:80111039 [GRCh38] Chr17:78084838 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1926C>G (p.Val642=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002143043] |
Chr17:80112913 [GRCh38] Chr17:78086712 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2844C>T (p.Leu948=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002183222] |
Chr17:80119316 [GRCh38] Chr17:78093115 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1110C>G (p.Gly370=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002219458] |
Chr17:80108523 [GRCh38] Chr17:78082322 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.867G>T (p.Ala289=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002198779] |
Chr17:80107808 [GRCh38] Chr17:78081607 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.955+10C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002178433] |
Chr17:80107906 [GRCh38] Chr17:78081705 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1758G>T (p.Ala586=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002176494] |
Chr17:80112581 [GRCh38] Chr17:78086380 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2482-9C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002099219] |
Chr17:80118184 [GRCh38] Chr17:78091983 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2427C>T (p.Ala809=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002162380] |
Chr17:80117695 [GRCh38] Chr17:78091494 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1889-14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002099420] |
Chr17:80112862 [GRCh38] Chr17:78086661 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1227C>T (p.Asp409=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002103108] |
Chr17:80108729 [GRCh38] Chr17:78082528 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1449G>A (p.Gly483=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002180352] |
Chr17:80110738 [GRCh38] Chr17:78084537 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2091G>A (p.Lys697=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002161561] |
Chr17:80113268 [GRCh38] Chr17:78087067 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1692T>C (p.Phe564=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002201839] |
Chr17:80112038 [GRCh38] Chr17:78085837 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1134C>T (p.Tyr378=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002221013] |
Chr17:80108547 [GRCh38] Chr17:78082346 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.936G>A (p.Leu312=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002175806] |
Chr17:80107877 [GRCh38] Chr17:78081676 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1284G>T (p.Val428=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002183619] |
Chr17:80108786 [GRCh38] Chr17:78082585 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2604G>T (p.Leu868=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002198334] |
Chr17:80118315 [GRCh38] Chr17:78092114 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.421C>T (p.Leu141=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002141240] |
Chr17:80105007 [GRCh38] Chr17:78078806 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2040+8G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002183917] |
Chr17:80113035 [GRCh38] Chr17:78086834 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.693-19G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002183927] |
Chr17:80107538 [GRCh38] Chr17:78081337 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2817C>T (p.Val939=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002204225] |
Chr17:80119289 [GRCh38] Chr17:78093088 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.21C>T (p.Pro7=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002118457] |
Chr17:80104607 [GRCh38] Chr17:78078406 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.609G>A (p.Arg203=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002198764] |
Chr17:80105811 [GRCh38] Chr17:78079610 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.138C>G (p.Ser46=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002138198]|not provided [RCV003134392] |
Chr17:80104724 [GRCh38] Chr17:78078523 [GRCh37] Chr17:17q25.3 |
likely benign|uncertain significance |
NM_000152.5(GAA):c.1552-12C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002199009] |
Chr17:80110929 [GRCh38] Chr17:78084728 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-13G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002123834] |
Chr17:80113205 [GRCh38] Chr17:78087004 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.501G>A (p.Leu167=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002144101] |
Chr17:80105087 [GRCh38] Chr17:78078886 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.639C>T (p.Phe213=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002176705] |
Chr17:80105841 [GRCh38] Chr17:78079640 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2481+12A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002119276] |
Chr17:80117761 [GRCh38] Chr17:78091560 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2703G>A (p.Leu901=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002182622] |
Chr17:80118709 [GRCh38] Chr17:78092508 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1392G>A (p.Arg464=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002122614] |
Chr17:80110010 [GRCh38] Chr17:78083809 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1075+5G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003110656] |
Chr17:80108414 [GRCh38] Chr17:78082213 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1089G>A (p.Met363Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003110174] |
Chr17:80108502 [GRCh38] Chr17:78082301 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003112390] |
Chr17:80112676 [GRCh38] Chr17:78086475 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003112391] |
Chr17:80118330 [GRCh38] Chr17:78092129 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.955+43G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003116839] |
Chr17:80107939 [GRCh38] Chr17:78081738 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+20G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003112092] |
Chr17:80105152 [GRCh38] Chr17:78078951 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.756G>A (p.Leu252=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003116213] |
Chr17:80107620 [GRCh38] Chr17:78081419 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2481+4C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003116234] |
Chr17:80117753 [GRCh38] Chr17:78091552 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.616T>C (p.Ser206Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003118517] |
Chr17:80105818 [GRCh38] Chr17:78079617 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003121476] |
Chr17:80118684 [GRCh38] Chr17:78092483 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_76851749)_(78367298_?)dup |
duplication |
Pityriasis rubra pilaris [RCV003122634] |
Chr17:76851749..78367298 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(?_78084516)_(78084834_?)del |
deletion |
Glycogen storage disease, type II [RCV003119427] |
Chr17:78084516..78084834 [GRCh37] Chr17:17q25.3 |
pathogenic |
NC_000017.10:g.(?_78085283)_(78092476_?)del |
deletion |
Glycogen storage disease, type II [RCV003119428] |
Chr17:78085283..78092476 [GRCh37] Chr17:17q25.3 |
pathogenic |
NC_000017.10:g.(?_78090747)_(78110154_?)dup |
duplication |
Glycogen storage disease, type II [RCV003119429] |
Chr17:78090747..78110154 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003237380]|not provided [RCV003144096] |
Chr17:80112684 [GRCh38] Chr17:78086483 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.713C>T (p.Pro238Leu) |
single nucleotide variant |
not provided [RCV003130952] |
Chr17:80107577 [GRCh38] Chr17:78081376 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2189+614T>C |
single nucleotide variant |
not provided [RCV003130955] |
Chr17:80113980 [GRCh38] Chr17:78087779 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.556C>T (p.Pro186Ser) |
single nucleotide variant |
not provided [RCV003144095] |
Chr17:80105758 [GRCh38] Chr17:78079557 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.522G>T (p.Glu174Asp) |
single nucleotide variant |
not provided [RCV003144101] |
Chr17:80105108 [GRCh38] Chr17:78078907 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1754+2T>G |
single nucleotide variant |
not provided [RCV002250422] |
Chr17:80112102 [GRCh38] Chr17:78085901 [GRCh37] Chr17:17q25.3 |
not provided |
NM_000152.5(GAA):c.1706A>G (p.Tyr569Cys) |
single nucleotide variant |
not provided [RCV003144092] |
Chr17:80112052 [GRCh38] Chr17:78085851 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg) |
single nucleotide variant |
not provided [RCV003144097] |
Chr17:80110730 [GRCh38] Chr17:78084529 [GRCh37] Chr17:17q25.3 |
pathogenic|uncertain significance |
NM_000152.5(GAA):c.790C>T (p.Leu264Phe) |
single nucleotide variant |
not provided [RCV003144099] |
Chr17:80107654 [GRCh38] Chr17:78081453 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.935del (p.Leu312fs) |
deletion |
Glycogen storage disease, type II [RCV003236603] |
Chr17:80107876 [GRCh38] Chr17:78081675 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.712C>T (p.Pro238Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003096198]|not provided [RCV002275422] |
Chr17:80107576 [GRCh38] Chr17:78081375 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.795T>A (p.Ser265Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003095878]|not provided [RCV002261579] |
Chr17:80107659 [GRCh38] Chr17:78081458 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002260940] |
Chr17:80112016 [GRCh38] Chr17:78085815 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002260945] |
Chr17:80117679 [GRCh38] Chr17:78091478 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2738C>G (p.Pro913Arg) |
single nucleotide variant |
not provided [RCV002275756] |
Chr17:80118744 [GRCh38] Chr17:78092543 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002293394] |
Chr17:80117720 [GRCh38] Chr17:78091519 [GRCh37] Chr17:17q25.3 |
uncertain significance |
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 |
copy number gain |
not provided [RCV002276051] |
Chr17:73481509..81043199 [GRCh37] Chr17:17q25.1-25.3 |
pathogenic |
NM_000152.5(GAA):c.1439T>A (p.Val480Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002297127] |
Chr17:80110728 [GRCh38] Chr17:78084527 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1011G>A (p.Leu337=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002452029] |
Chr17:80108345 [GRCh38] Chr17:78082144 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.246C>A (p.Cys82Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002260939] |
Chr17:80104832 [GRCh38] Chr17:78078631 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.796C>A (p.Pro266Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002260942] |
Chr17:80107660 [GRCh38] Chr17:78081459 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002260943] |
Chr17:80117724 [GRCh38] Chr17:78091523 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002296937] |
Chr17:80113285 [GRCh38] Chr17:78087084 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.547-176TCC[2] |
microsatellite |
not provided [RCV002286270] |
Chr17:80105573..80105575 [GRCh38] Chr17:78079372..78079374 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1705dup (p.Tyr569fs) |
duplication |
Glycogen storage disease, type II [RCV002260938] |
Chr17:80112050..80112051 [GRCh38] Chr17:78085849..78085850 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002289401] |
Chr17:80108519 [GRCh38] Chr17:78082318 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003096112]|not specified [RCV002271755] |
Chr17:80112025 [GRCh38] Chr17:78085824 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2012T>A (p.Met671Lys) |
single nucleotide variant |
not specified [RCV003236377] |
Chr17:80112999 [GRCh38] Chr17:78086798 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.693G>T (p.Leu231=) |
single nucleotide variant |
not specified [RCV003236378] |
Chr17:80107557 [GRCh38] Chr17:78081356 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1239C>G (p.Asp413Glu) |
single nucleotide variant |
not specified [RCV003236376] |
Chr17:80108741 [GRCh38] Chr17:78082540 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs) |
indel |
Glycogen storage disease, type II [RCV002260944] |
Chr17:80110991..80110994 [GRCh38] Chr17:78084790..78084793 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002260941] |
Chr17:80110003 [GRCh38] Chr17:78083802 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1848dup (p.Val617fs) |
duplication |
Glycogen storage disease, type II [RCV002291120] |
Chr17:80112670..80112671 [GRCh38] Chr17:78086469..78086470 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2481+1G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003236602] |
Chr17:80117750 [GRCh38] Chr17:78091549 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1755-4C>T |
single nucleotide variant |
Muscular dystrophy [RCV002281213] |
Chr17:80112574 [GRCh38] Chr17:78086373 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2823G>A (p.Leu941=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435005]|Glycogen storage disease, type II [RCV003102760] |
Chr17:80119295 [GRCh38] Chr17:78093094 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2380del (p.Arg794fs) |
deletion |
Glycogen storage disease, type II [RCV002260937] |
Chr17:80117645 [GRCh38] Chr17:78091444 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2602C>G (p.Leu868Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002437140] |
Chr17:80118313 [GRCh38] Chr17:78092112 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2022C>T (p.His674=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002419615]|Glycogen storage disease, type II [RCV003108097] |
Chr17:80113009 [GRCh38] Chr17:78086808 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2574C>G (p.Phe858Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002452790] |
Chr17:80118285 [GRCh38] Chr17:78092084 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1191C>G (p.Pro397=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002351413] |
Chr17:80108604 [GRCh38] Chr17:78082403 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1076-10T>A |
single nucleotide variant |
not provided [RCV003130951] |
Chr17:80108479 [GRCh38] Chr17:78082278 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2272G>T (p.Ala758Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003301279] |
Chr17:80117050 [GRCh38] Chr17:78090849 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1379A>G (p.Glu460Gly) |
single nucleotide variant |
not provided [RCV003144091] |
Chr17:80109997 [GRCh38] Chr17:78083796 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1960T>G (p.Ser654Ala) |
single nucleotide variant |
not provided [RCV003144098] |
Chr17:80112947 [GRCh38] Chr17:78086746 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.804G>C (p.Met268Ile) |
single nucleotide variant |
not provided [RCV003130958] |
Chr17:80107668 [GRCh38] Chr17:78081467 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2020C>T (p.His674Tyr) |
single nucleotide variant |
not provided [RCV003144100] |
Chr17:80113007 [GRCh38] Chr17:78086806 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del |
deletion |
Glycogen storage disease, type II [RCV002469950] |
Chr17:78082495..78087166 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.*187_*203delinsGGG |
indel |
not provided [RCV002505969] |
Chr17:80119518..80119534 [GRCh38] Chr17:78093317..78093333 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2101C>G (p.Leu701Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002302989] |
Chr17:80113278 [GRCh38] Chr17:78087077 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1931C>A (p.Ala644Asp) |
single nucleotide variant |
not provided [RCV003130950] |
Chr17:80112918 [GRCh38] Chr17:78086717 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.611C>T (p.Ala204Val) |
single nucleotide variant |
not provided [RCV003130954] |
Chr17:80105813 [GRCh38] Chr17:78079612 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1637-4_1637-3delinsG |
indel |
Cardiovascular phenotype [RCV002403478] |
Chr17:80111979..80111980 [GRCh38] Chr17:78085778..78085779 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.52C>T (p.Leu18Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002304196] |
Chr17:80104638 [GRCh38] Chr17:78078437 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003234748] |
Chr17:80110814 [GRCh38] Chr17:78084613 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1998C>T (p.Ala666=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002417030] |
Chr17:80112985 [GRCh38] Chr17:78086784 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002305283] |
Chr17:80117622 [GRCh38] Chr17:78091421 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1296C>A (p.His432Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002380649] |
Chr17:80108798 [GRCh38] Chr17:78082597 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002308077] |
Chr17:80117097 [GRCh38] Chr17:78090896 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1401C>T (p.Phe467=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002389284] |
Chr17:80110019 [GRCh38] Chr17:78083818 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs) |
insertion |
Glycogen storage disease, type II [RCV002310501] |
Chr17:80117613..80117614 [GRCh38] Chr17:78091412..78091413 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.837G>T (p.Trp279Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434818] |
Chr17:80107701 [GRCh38] Chr17:78081500 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1814del (p.Gly605fs) |
deletion |
Glycogen storage disease, type II [RCV002308272] |
Chr17:80112636 [GRCh38] Chr17:78086435 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2336C>A (p.Pro779Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002457656] |
Chr17:80117604 [GRCh38] Chr17:78091403 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1720C>T (p.Leu574Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399054] |
Chr17:80112066 [GRCh38] Chr17:78085865 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1966del (p.Glu656fs) |
deletion |
Glycogen storage disease, type II [RCV002310589] |
Chr17:80112952 [GRCh38] Chr17:78086751 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002295595] |
Chr17:80110758 [GRCh38] Chr17:78084557 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2367A>C (p.Pro789=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450145] |
Chr17:80117635 [GRCh38] Chr17:78091434 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002296474]|not provided [RCV003138160] |
Chr17:80118747 [GRCh38] Chr17:78092546 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2433G>A (p.Leu811=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450465] |
Chr17:80117701 [GRCh38] Chr17:78091500 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1278C>T (p.Ala426=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443486] |
Chr17:80108780 [GRCh38] Chr17:78082579 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1045A>G (p.Ser349Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002405355] |
Chr17:80108379 [GRCh38] Chr17:78082178 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2778C>T (p.Phe926=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439685]|Glycogen storage disease, type II [RCV003102202] |
Chr17:80118784 [GRCh38] Chr17:78092583 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2166C>G (p.Thr722=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432648] |
Chr17:80113343 [GRCh38] Chr17:78087142 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.829_830del (p.Thr277fs) |
deletion |
Glycogen storage disease, type II [RCV002309229] |
Chr17:80107692..80107693 [GRCh38] Chr17:78081491..78081492 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002299121] |
Chr17:80118356 [GRCh38] Chr17:78092155 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg) |
indel |
Glycogen storage disease, type II [RCV002303301] |
Chr17:80108292..80108293 [GRCh38] Chr17:78082091..78082092 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1657C>A (p.Gln553Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403748] |
Chr17:80112003 [GRCh38] Chr17:78085802 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs) |
deletion |
Glycogen storage disease, type II [RCV002307888] |
Chr17:80108744..80108745 [GRCh38] Chr17:78082543..78082544 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs) |
deletion |
Glycogen storage disease, type II [RCV002308227] |
Chr17:80110964..80110965 [GRCh38] Chr17:78084763..78084764 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.511G>C (p.Val171Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002344183] |
Chr17:80105097 [GRCh38] Chr17:78078896 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1251C>T (p.Asn417=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002412105] |
Chr17:80108753 [GRCh38] Chr17:78082552 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2493C>T (p.Leu831=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002430971] |
Chr17:80118204 [GRCh38] Chr17:78092003 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.513G>C (p.Val171=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002344249]|Glycogen storage disease, type II [RCV003096629] |
Chr17:80105099 [GRCh38] Chr17:78078898 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2370T>A (p.Pro790=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002457775] |
Chr17:80117638 [GRCh38] Chr17:78091437 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2818T>G (p.Ser940Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002441774] |
Chr17:80119290 [GRCh38] Chr17:78093089 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.330C>T (p.Tyr110=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326286] |
Chr17:80104916 [GRCh38] Chr17:78078715 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2395del (p.His799fs) |
deletion |
Glycogen storage disease, type II [RCV002309535] |
Chr17:80117662 [GRCh38] Chr17:78091461 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs) |
indel |
Glycogen storage disease, type II [RCV002309687] |
Chr17:80105798..80105802 [GRCh38] Chr17:78079597..78079601 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2088del (p.Lys697fs) |
deletion |
Glycogen storage disease, type II [RCV002309529] |
Chr17:80113264 [GRCh38] Chr17:78087063 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2431C>G (p.Leu811Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002459890]|Glycogen storage disease, type II [RCV003098871] |
Chr17:80117699 [GRCh38] Chr17:78091498 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002306891] |
Chr17:80108354 [GRCh38] Chr17:78082153 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2616C>T (p.Ala872=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426360]|Glycogen storage disease, type II [RCV003102032] |
Chr17:80118327 [GRCh38] Chr17:78092126 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.502C>A (p.Arg168=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002335611]|Glycogen storage disease, type II [RCV003096574] |
Chr17:80105088 [GRCh38] Chr17:78078887 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2366C>G (p.Pro789Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450142] |
Chr17:80117634 [GRCh38] Chr17:78091433 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2751C>G (p.Leu917=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439377]|Glycogen storage disease, type II [RCV003102177] |
Chr17:80118757 [GRCh38] Chr17:78092556 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.841C>A (p.Arg281=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002862721] |
Chr17:80107705 [GRCh38] Chr17:78081504 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1076-7C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003012185] |
Chr17:80108482 [GRCh38] Chr17:78082281 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1326+7G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003013355] |
Chr17:80108835 [GRCh38] Chr17:78082634 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.24C>T (p.Cys8=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002616518] |
Chr17:80104610 [GRCh38] Chr17:78078409 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002971138]|not provided [RCV003134567] |
Chr17:80108341 [GRCh38] Chr17:78082140 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2658G>T (p.Val886=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002775505] |
Chr17:80118664 [GRCh38] Chr17:78092463 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2547G>A (p.Lys849=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003015607] |
Chr17:80118258 [GRCh38] Chr17:78092057 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2388A>G (p.Pro796=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002837994] |
Chr17:80117656 [GRCh38] Chr17:78091455 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002685842] |
Chr17:80116982 [GRCh38] Chr17:78090781 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2469C>T (p.Ile823=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002904928] |
Chr17:80117737 [GRCh38] Chr17:78091536 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002726308] |
Chr17:80112671 [GRCh38] Chr17:78086470 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2082C>T (p.Ala694=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002690424] |
Chr17:80113259 [GRCh38] Chr17:78087058 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.894C>T (p.Tyr298=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002618700] |
Chr17:80107835 [GRCh38] Chr17:78081634 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002819806] |
Chr17:80104993 [GRCh38] Chr17:78078792 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.752C>G (p.Ser251Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003103145]|not provided [RCV002462711] |
Chr17:80107616 [GRCh38] Chr17:78081415 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2583T>C (p.Asp861=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002795017] |
Chr17:80118294 [GRCh38] Chr17:78092093 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-9T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003016751] |
Chr17:80109936 [GRCh38] Chr17:78083735 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2349T>C (p.Leu783=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002616469] |
Chr17:80117617 [GRCh38] Chr17:78091416 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2049G>A (p.Glu683=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003016659] |
Chr17:80113226 [GRCh38] Chr17:78087025 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+7_858+8insAGCGGGT |
insertion |
Glycogen storage disease, type II [RCV003076323] |
Chr17:80107729..80107730 [GRCh38] Chr17:78081528..78081529 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2733G>A (p.Thr911=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002947870] |
Chr17:80118739 [GRCh38] Chr17:78092538 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.333C>T (p.Ile111=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002843892] |
Chr17:80104919 [GRCh38] Chr17:78078718 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2016G>A (p.Arg672=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002771013] |
Chr17:80113003 [GRCh38] Chr17:78086802 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2729C>T (p.Ala910Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002903916] |
Chr17:80118735 [GRCh38] Chr17:78092534 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1752C>T (p.His584=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003014496] |
Chr17:80112098 [GRCh38] Chr17:78085897 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.446C>A (p.Thr149Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002771440] |
Chr17:80105032 [GRCh38] Chr17:78078831 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met) |
indel |
Glycogen storage disease, type II [RCV003033396] |
Chr17:80111984..80111985 [GRCh38] Chr17:78085783..78085784 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.858+9G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002863659] |
Chr17:80107731 [GRCh38] Chr17:78081530 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.816C>G (p.Ser272Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002993879] |
Chr17:80107680 [GRCh38] Chr17:78081479 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2529G>C (p.Leu843=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002862824] |
Chr17:80118240 [GRCh38] Chr17:78092039 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003074649] |
Chr17:80108805 [GRCh38] Chr17:78082604 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2772C>G (p.Ser924=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002881829] |
Chr17:80118778 [GRCh38] Chr17:78092577 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1107G>A (p.Leu369=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002842578] |
Chr17:80108520 [GRCh38] Chr17:78082319 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.711G>C (p.Ala237=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002615552] |
Chr17:80107575 [GRCh38] Chr17:78081374 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1008C>T (p.Ile336=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002970671] |
Chr17:80108342 [GRCh38] Chr17:78082141 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002615037] |
Chr17:80119327 [GRCh38] Chr17:78093126 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2043C>G (p.Pro681=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002880720] |
Chr17:80113220 [GRCh38] Chr17:78087019 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.844G>C (p.Asp282His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002512505] |
Chr17:80107708 [GRCh38] Chr17:78081507 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1755-9C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002881875] |
Chr17:80112569 [GRCh38] Chr17:78086368 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.166C>A (p.His56Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002685537] |
Chr17:80104752 [GRCh38] Chr17:78078551 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1637-11G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002686352] |
Chr17:80111972 [GRCh38] Chr17:78085771 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.87C>T (p.His29=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003075406] |
Chr17:80104673 [GRCh38] Chr17:78078472 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.692+8C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002842529] |
Chr17:80105902 [GRCh38] Chr17:78079701 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.259A>C (p.Asn87His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002756136] |
Chr17:80104845 [GRCh38] Chr17:78078644 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2718C>T (p.Val906=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002843530] |
Chr17:80118724 [GRCh38] Chr17:78092523 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2820G>C (p.Ser940=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002996104] |
Chr17:80119292 [GRCh38] Chr17:78093091 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1937del (p.Val646fs) |
deletion |
Glycogen storage disease, type II [RCV003034232] |
Chr17:80112924 [GRCh38] Chr17:78086723 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2332-7C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003076381] |
Chr17:80117593 [GRCh38] Chr17:78091392 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.159C>A (p.His53Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002756165] |
Chr17:80104745 [GRCh38] Chr17:78078544 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2736G>T (p.Ala912=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002613385] |
Chr17:80118742 [GRCh38] Chr17:78092541 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1075+8del |
deletion |
Glycogen storage disease, type II [RCV003016935] |
Chr17:80108416 [GRCh38] Chr17:78082215 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1888+5G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002838089] |
Chr17:80112716 [GRCh38] Chr17:78086515 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.922C>G (p.His308Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003073819] |
Chr17:80107863 [GRCh38] Chr17:78081662 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2784C>T (p.Tyr928=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003011843] |
Chr17:80118790 [GRCh38] Chr17:78092589 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.75A>T (p.Ala25=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002903332] |
Chr17:80104661 [GRCh38] Chr17:78078460 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1076-11T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002730663] |
Chr17:80108478 [GRCh38] Chr17:78082277 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002971854] |
Chr17:80118690 [GRCh38] Chr17:78092489 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2646+4A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003016801] |
Chr17:80118361 [GRCh38] Chr17:78092160 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2581G>C (p.Asp861His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003012320] |
Chr17:80118292 [GRCh38] Chr17:78092091 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2571G>A (p.Leu857=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003021820] |
Chr17:80118282 [GRCh38] Chr17:78092081 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002926831] |
Chr17:80112696 [GRCh38] Chr17:78086495 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.515T>C (p.Met172Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003002545] |
Chr17:80105101 [GRCh38] Chr17:78078900 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.637T>C (p.Phe213Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002820462] |
Chr17:80105839 [GRCh38] Chr17:78079638 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2157G>T (p.Ala719=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002871513] |
Chr17:80113334 [GRCh38] Chr17:78087133 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002885631] |
Chr17:80110011 [GRCh38] Chr17:78083810 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.399C>T (p.Tyr133=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002889881] |
Chr17:80104985 [GRCh38] Chr17:78078784 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1396G>T (p.Val466Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003081787] |
Chr17:80110014 [GRCh38] Chr17:78083813 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.733T>G (p.Phe245Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003081369] |
Chr17:80107597 [GRCh38] Chr17:78081396 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1320G>A (p.Met440Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002953248] |
Chr17:80108822 [GRCh38] Chr17:78082621 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.693-2A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003021550] |
Chr17:80107555 [GRCh38] Chr17:78081354 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003039386] |
Chr17:80112955 [GRCh38] Chr17:78086754 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2041-9G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003003150] |
Chr17:80113209 [GRCh38] Chr17:78087008 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.700A>G (p.Thr234Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002740069]|not provided [RCV003146611] |
Chr17:80107564 [GRCh38] Chr17:78081363 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002694762] |
Chr17:80112992 [GRCh38] Chr17:78086791 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1023C>A (p.Ile341=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002825614] |
Chr17:80108357 [GRCh38] Chr17:78082156 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1632G>T (p.Val544=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002795217] |
Chr17:80111021 [GRCh38] Chr17:78084820 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1194+9G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002871166] |
Chr17:80108616 [GRCh38] Chr17:78082415 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1461C>T (p.Phe487=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002870790] |
Chr17:80110750 [GRCh38] Chr17:78084549 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002705802] |
Chr17:80112628 [GRCh38] Chr17:78086427 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.593C>T (p.Pro198Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002800140] |
Chr17:80105795 [GRCh38] Chr17:78079594 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.971C>G (p.Pro324Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002953456] |
Chr17:80108305 [GRCh38] Chr17:78082104 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1636+12C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002846762] |
Chr17:80111037 [GRCh38] Chr17:78084836 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1551+15del |
deletion |
Glycogen storage disease, type II [RCV002886514] |
Chr17:80110851 [GRCh38] Chr17:78084650 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.1105dup (p.Leu369fs) |
duplication |
Glycogen storage disease, type II [RCV002847696] |
Chr17:80108516..80108517 [GRCh38] Chr17:78082315..78082316 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.561T>A (p.Ala187=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003080225] |
Chr17:80105763 [GRCh38] Chr17:78079562 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002846217] |
Chr17:80110983 [GRCh38] Chr17:78084782 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002569632] |
Chr17:80108769 [GRCh38] Chr17:78082568 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC |
indel |
Glycogen storage disease, type II [RCV002780301] |
Chr17:80104538..80104545 [GRCh38] Chr17:78078337..78078344 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1195-16C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003078364] |
Chr17:80108681 [GRCh38] Chr17:78082480 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002796176] |
Chr17:80108787 [GRCh38] Chr17:78082586 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.265C>A (p.Arg89Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002795518] |
Chr17:80104851 [GRCh38] Chr17:78078650 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1092G>C (p.Pro364=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002886591] |
Chr17:80108505 [GRCh38] Chr17:78082304 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1149C>T (p.Ile383=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002885109] |
Chr17:80108562 [GRCh38] Chr17:78082361 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2070G>C (p.Pro690=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003020586] |
Chr17:80113247 [GRCh38] Chr17:78087046 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2482-12T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002976276] |
Chr17:80118181 [GRCh38] Chr17:78091980 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003001829] |
Chr17:80108591 [GRCh38] Chr17:78082390 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1637-19C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003078463] |
Chr17:80111964 [GRCh38] Chr17:78085763 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.609G>T (p.Arg203=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002636305] |
Chr17:80105811 [GRCh38] Chr17:78079610 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1825T>C (p.Tyr609His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002909359] |
Chr17:80112648 [GRCh38] Chr17:78086447 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.792C>T (p.Leu264=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002636491] |
Chr17:80107656 [GRCh38] Chr17:78081455 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.619C>T (p.Pro207Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002658874] |
Chr17:80105821 [GRCh38] Chr17:78079620 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1200C>T (p.Val400=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002824080] |
Chr17:80108702 [GRCh38] Chr17:78082501 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp) |
indel |
Glycogen storage disease, type II [RCV002848180] |
Chr17:80110010..80110011 [GRCh38] Chr17:78083809..78083810 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.692+20C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003037636] |
Chr17:80105914 [GRCh38] Chr17:78079713 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2800-1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002761303] |
Chr17:80119271 [GRCh38] Chr17:78093070 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003077445] |
Chr17:80108367 [GRCh38] Chr17:78082166 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002735228] |
Chr17:80109963 [GRCh38] Chr17:78083762 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.522G>A (p.Glu174=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003036808] |
Chr17:80105108 [GRCh38] Chr17:78078907 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.859-14C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002590573] |
Chr17:80107786 [GRCh38] Chr17:78081585 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1426C>T (p.Leu476=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003078797] |
Chr17:80110044 [GRCh38] Chr17:78083843 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1976T>C (p.Val659Ala) |
single nucleotide variant |
not specified [RCV002510429] |
Chr17:80112963 [GRCh38] Chr17:78086762 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.258C>G (p.Pro86=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003054937] |
Chr17:80104844 [GRCh38] Chr17:78078643 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.584T>A (p.Leu195Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003054939] |
Chr17:80105786 [GRCh38] Chr17:78079585 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.955+11C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002640010] |
Chr17:80107907 [GRCh38] Chr17:78081706 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1172T>A (p.Met391Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002923394] |
Chr17:80108585 [GRCh38] Chr17:78082384 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2001C>T (p.Phe667=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002886392] |
Chr17:80112988 [GRCh38] Chr17:78086787 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.415G>A (p.Glu139Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002621510] |
Chr17:80105001 [GRCh38] Chr17:78078800 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.613C>G (p.Pro205Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002695217] |
Chr17:80105815 [GRCh38] Chr17:78079614 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1234A>C (p.Arg412=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003021322] |
Chr17:80108736 [GRCh38] Chr17:78082535 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002909486] |
Chr17:80118711 [GRCh38] Chr17:78092510 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1327-5C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002910212] |
Chr17:80109940 [GRCh38] Chr17:78083739 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1075+10G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002846471] |
Chr17:80108419 [GRCh38] Chr17:78082218 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1711C>G (p.Leu571Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003079663] |
Chr17:80112057 [GRCh38] Chr17:78085856 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1246T>G (p.Phe416Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003055053] |
Chr17:80108748 [GRCh38] Chr17:78082547 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002949368] |
Chr17:80108816 [GRCh38] Chr17:78082615 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1075+18G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002846753] |
Chr17:80108427 [GRCh38] Chr17:78082226 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1160T>C (p.Val387Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002619404] |
Chr17:80108573 [GRCh38] Chr17:78082372 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2702dup (p.Gln902fs) |
duplication |
Glycogen storage disease, type II [RCV002870711] |
Chr17:80118707..80118708 [GRCh38] Chr17:78092506..78092507 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1911G>A (p.Leu637=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003002585] |
Chr17:80112898 [GRCh38] Chr17:78086697 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.547-5_547-4delinsGG |
indel |
Glycogen storage disease, type II [RCV003080965] |
Chr17:80105744..80105745 [GRCh38] Chr17:78079543..78079544 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1005G>C (p.Gly335=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002825025] |
Chr17:80108339 [GRCh38] Chr17:78082138 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002619492] |
Chr17:80108503 [GRCh38] Chr17:78082302 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2472C>A (p.Ile824=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003080795] |
Chr17:80117740 [GRCh38] Chr17:78091539 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2652G>T (p.Thr884=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002999737] |
Chr17:80118658 [GRCh38] Chr17:78092457 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1484C>T (p.Ala495Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002636850]|not provided [RCV003143515] |
Chr17:80110773 [GRCh38] Chr17:78084572 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.414G>A (p.Leu138=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002885124] |
Chr17:80105000 [GRCh38] Chr17:78078799 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2646+4A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002691257] |
Chr17:80118361 [GRCh38] Chr17:78092160 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1888+18G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003056492] |
Chr17:80112729 [GRCh38] Chr17:78086528 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+3GGGCA[3] |
microsatellite |
Glycogen storage disease, type II [RCV002643448] |
Chr17:80105134..80105135 [GRCh38] Chr17:78078933..78078934 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.557C>A (p.Pro186Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002894930] |
Chr17:80105759 [GRCh38] Chr17:78079558 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.717G>T (p.Leu239=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003024985] |
Chr17:80107581 [GRCh38] Chr17:78081380 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003084789] |
Chr17:80112703 [GRCh38] Chr17:78086502 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003043631] |
Chr17:80118804 [GRCh38] Chr17:78092603 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1882G>C (p.Val628Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002594742] |
Chr17:80112705 [GRCh38] Chr17:78086504 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003057222]|not provided [RCV003138455] |
Chr17:80118720 [GRCh38] Chr17:78092519 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.117C>T (p.Pro39=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002644345] |
Chr17:80104703 [GRCh38] Chr17:78078502 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1194+19dup |
duplication |
Glycogen storage disease, type II [RCV002593924] |
Chr17:80108625..80108626 [GRCh38] Chr17:78082424..78082425 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003083785] |
Chr17:80108811 [GRCh38] Chr17:78082610 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1076-13C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003007400] |
Chr17:80108476 [GRCh38] Chr17:78082275 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2220G>A (p.Val740=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003041725] |
Chr17:80116998 [GRCh38] Chr17:78090797 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1551+20G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003055939] |
Chr17:80110860 [GRCh38] Chr17:78084659 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.621A>C (p.Pro207=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003023424] |
Chr17:80105823 [GRCh38] Chr17:78079622 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2040+2T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002643069] |
Chr17:80113029 [GRCh38] Chr17:78086828 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.2189+10_2189+11del |
deletion |
Glycogen storage disease, type II [RCV002595293] |
Chr17:80113376..80113377 [GRCh38] Chr17:78087175..78087176 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2314del (p.Trp772fs) |
deletion |
Glycogen storage disease, type II [RCV003023912] |
Chr17:80117092 [GRCh38] Chr17:78090891 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002575040] |
Chr17:80112882 [GRCh38] Chr17:78086681 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.786G>A (p.Glu262=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003057194] |
Chr17:80107650 [GRCh38] Chr17:78081449 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC |
insertion |
Glycogen storage disease, type II [RCV003057359] |
Chr17:80107727..80107728 [GRCh38] Chr17:78081526..78081527 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.858+19G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003057360] |
Chr17:80107741 [GRCh38] Chr17:78081540 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.613C>T (p.Pro205Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002801804] |
Chr17:80105815 [GRCh38] Chr17:78079614 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002983068] |
Chr17:80110042 [GRCh38] Chr17:78083841 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1755-12C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002805523] |
Chr17:80112566 [GRCh38] Chr17:78086365 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-14dup |
duplication |
Glycogen storage disease, type II [RCV002667589] |
Chr17:80113199..80113200 [GRCh38] Chr17:78086998..78086999 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.2402del (p.Glu801fs) |
deletion |
not provided [RCV002508885] |
Chr17:80117670 [GRCh38] Chr17:78091469 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.567G>A (p.Arg189=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003025971] |
Chr17:80105769 [GRCh38] Chr17:78079568 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002625231] |
Chr17:80119329 [GRCh38] Chr17:78093128 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2481+20A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002595480] |
Chr17:80117769 [GRCh38] Chr17:78091568 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2850C>T (p.Ser950=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003308401]|Glycogen storage disease, type II [RCV003007228] |
Chr17:80119322 [GRCh38] Chr17:78093121 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003007973] |
Chr17:80111992 [GRCh38] Chr17:78085791 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2152G>C (p.Val718Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002958862] |
Chr17:80113329 [GRCh38] Chr17:78087128 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1755-19G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002982617] |
Chr17:80112559 [GRCh38] Chr17:78086358 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002711208] |
Chr17:80110968 [GRCh38] Chr17:78084767 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003022844] |
Chr17:80110027 [GRCh38] Chr17:78083826 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002597045] |
Chr17:80117630 [GRCh38] Chr17:78091429 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002871829] |
Chr17:80118288 [GRCh38] Chr17:78092087 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2463G>C (p.Gly821=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002576221] |
Chr17:80117731 [GRCh38] Chr17:78091530 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.587del (p.Glu196fs) |
deletion |
Glycogen storage disease, type II [RCV002801078] |
Chr17:80105789 [GRCh38] Chr17:78079588 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.497C>T (p.Thr166Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003082401] |
Chr17:80105083 [GRCh38] Chr17:78078882 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2332-9T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002893901] |
Chr17:80117591 [GRCh38] Chr17:78091390 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-14del |
deletion |
Glycogen storage disease, type II [RCV002875881] |
Chr17:80113200 [GRCh38] Chr17:78086999 [GRCh37] Chr17:17q25.3 |
benign |
NM_000152.5(GAA):c.956A>G (p.Asp319Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002576060] |
Chr17:80108290 [GRCh38] Chr17:78082089 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003084566] |
Chr17:80111000 [GRCh38] Chr17:78084799 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2331+6T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003025236] |
Chr17:80117115 [GRCh38] Chr17:78090914 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1754+2T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002667301] |
Chr17:80112102 [GRCh38] Chr17:78085901 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1437+20G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002596546] |
Chr17:80110075 [GRCh38] Chr17:78083874 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2185C>T (p.Leu729=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002871907] |
Chr17:80113362 [GRCh38] Chr17:78087161 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.552A>G (p.Lys184=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002828919] |
Chr17:80105754 [GRCh38] Chr17:78079553 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.282T>C (p.Pro94=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003059219] |
Chr17:80104868 [GRCh38] Chr17:78078667 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002805357] |
Chr17:80110011 [GRCh38] Chr17:78083810 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1551+4A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002851041] |
Chr17:80110844 [GRCh38] Chr17:78084643 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1362C>T (p.Ser454=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002805273] |
Chr17:80109980 [GRCh38] Chr17:78083779 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del) |
microsatellite |
Glycogen storage disease, type II [RCV002852433] |
Chr17:80108547..80108549 [GRCh38] Chr17:78082346..78082348 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1314C>T (p.Tyr438=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003022158] |
Chr17:80108816 [GRCh38] Chr17:78082615 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003041146]|not provided [RCV003146740] |
Chr17:80118765 [GRCh38] Chr17:78092564 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.851C>A (p.Ala284Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003084333] |
Chr17:80107715 [GRCh38] Chr17:78081514 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1731G>T (p.Leu577=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002852722] |
Chr17:80112077 [GRCh38] Chr17:78085876 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1194+20G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002802101] |
Chr17:80108627 [GRCh38] Chr17:78082426 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1326+8C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003048960] |
Chr17:80108836 [GRCh38] Chr17:78082635 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003091929] |
Chr17:80117684 [GRCh38] Chr17:78091483 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.821C>T (p.Thr274Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003061292] |
Chr17:80107685 [GRCh38] Chr17:78081484 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2391C>G (p.Ala797=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003049189] |
Chr17:80117659 [GRCh38] Chr17:78091458 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002629370] |
Chr17:80108370 [GRCh38] Chr17:78082169 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003066037] |
Chr17:80118702 [GRCh38] Chr17:78092501 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.547A>G (p.Ile183Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003066005] |
Chr17:80105749 [GRCh38] Chr17:78079548 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2100C>A (p.Thr700=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002602880] |
Chr17:80113277 [GRCh38] Chr17:78087076 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2511C>T (p.Arg837=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002581840] |
Chr17:80118222 [GRCh38] Chr17:78092021 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1728C>T (p.Gly576=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003047518] |
Chr17:80112074 [GRCh38] Chr17:78085873 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003030285] |
Chr17:80112642 [GRCh38] Chr17:78086441 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2647-2A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002966541] |
Chr17:80118651 [GRCh38] Chr17:78092450 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2695C>T (p.Leu899=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003047109] |
Chr17:80118701 [GRCh38] Chr17:78092500 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs) |
duplication |
Glycogen storage disease, type II [RCV002877426] |
Chr17:80112960..80112961 [GRCh38] Chr17:78086759..78086760 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1746C>T (p.Ala582=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002579955] |
Chr17:80112092 [GRCh38] Chr17:78085891 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.866C>A (p.Ala289Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003061338] |
Chr17:80107807 [GRCh38] Chr17:78081606 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2358C>A (p.Leu786=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003027261] |
Chr17:80117626 [GRCh38] Chr17:78091425 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1755-5C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003008480] |
Chr17:80112573 [GRCh38] Chr17:78086372 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1194+13G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002746630] |
Chr17:80108620 [GRCh38] Chr17:78082419 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1323C>A (p.Ile441=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002898627] |
Chr17:80108825 [GRCh38] Chr17:78082624 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1075+14C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002746060] |
Chr17:80108423 [GRCh38] Chr17:78082222 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1833C>T (p.Gly611=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002962838] |
Chr17:80112656 [GRCh38] Chr17:78086455 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002922330] |
Chr17:80108504 [GRCh38] Chr17:78082303 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.859-4C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003061647] |
Chr17:80107796 [GRCh38] Chr17:78081595 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1755-17G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002857656] |
Chr17:80112561 [GRCh38] Chr17:78086360 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2800-16G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003061653] |
Chr17:80119256 [GRCh38] Chr17:78093055 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2760T>C (p.Gly920=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003044135] |
Chr17:80118766 [GRCh38] Chr17:78092565 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2364C>T (p.Pro788=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002630248] |
Chr17:80117632 [GRCh38] Chr17:78091431 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003087709]|not provided [RCV003143480] |
Chr17:80110766 [GRCh38] Chr17:78084565 [GRCh37] Chr17:17q25.3 |
likely pathogenic|uncertain significance |
NM_000152.5(GAA):c.596A>T (p.His199Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002714988] |
Chr17:80105798 [GRCh38] Chr17:78079597 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.58T>A (p.Ser20Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003060969] |
Chr17:80104644 [GRCh38] Chr17:78078443 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003028635] |
Chr17:80112039 [GRCh38] Chr17:78085838 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1869G>T (p.Gln623His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003062508] |
Chr17:80112692 [GRCh38] Chr17:78086491 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002745939] |
Chr17:80117016 [GRCh38] Chr17:78090815 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1551+6T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV002856801] |
Chr17:80110846 [GRCh38] Chr17:78084645 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002650610] |
Chr17:80110821 [GRCh38] Chr17:78084620 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2482-16G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002671306] |
Chr17:80118177 [GRCh38] Chr17:78091976 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2190-16C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003090730] |
Chr17:80116952 [GRCh38] Chr17:78090751 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002628506] |
Chr17:80118209 [GRCh38] Chr17:78092008 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.546+5G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003061440]|not provided [RCV003314053] |
Chr17:80105137 [GRCh38] Chr17:78078936 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.194C>T (p.Pro65Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003063511] |
Chr17:80104780 [GRCh38] Chr17:78078579 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2247C>A (p.Ala749=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002857039] |
Chr17:80117025 [GRCh38] Chr17:78090824 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.666G>A (p.Val222=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002651016] |
Chr17:80105868 [GRCh38] Chr17:78079667 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2799+15A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002895604] |
Chr17:80118820 [GRCh38] Chr17:78092619 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002629939] |
Chr17:80111991 [GRCh38] Chr17:78085790 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2482-9C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002628570] |
Chr17:80118184 [GRCh38] Chr17:78091983 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002810594] |
Chr17:80110969 [GRCh38] Chr17:78084768 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.598G>T (p.Val200Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003086051]|not provided [RCV003138503] |
Chr17:80105800 [GRCh38] Chr17:78079599 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.423G>A (p.Leu141=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002833044] |
Chr17:80105009 [GRCh38] Chr17:78078808 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.777C>G (p.Gly259=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002716821] |
Chr17:80107641 [GRCh38] Chr17:78081440 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+2T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003064492] |
Chr17:80105134 [GRCh38] Chr17:78078933 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.595_596inv (p.His199Cys) |
inversion |
Glycogen storage disease, type II [RCV003060266] |
Chr17:80105797..80105798 [GRCh38] Chr17:78079596..78079597 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.739C>T (p.Gln247Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002856619] |
Chr17:80107603 [GRCh38] Chr17:78081402 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002645930]|not provided [RCV003134462] |
Chr17:80117648 [GRCh38] Chr17:78091447 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002877500] |
Chr17:80109988 [GRCh38] Chr17:78083787 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1636+15C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003062922] |
Chr17:80111040 [GRCh38] Chr17:78084839 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1326+12C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002899180] |
Chr17:80108840 [GRCh38] Chr17:78082639 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003029536] |
Chr17:80118728 [GRCh38] Chr17:78092527 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.990G>C (p.Trp330Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002966164] |
Chr17:80108324 [GRCh38] Chr17:78082123 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2157G>C (p.Ala719=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002602196] |
Chr17:80113334 [GRCh38] Chr17:78087133 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003045709] |
Chr17:80112708 [GRCh38] Chr17:78086507 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1508T>C (p.Val503Ala) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003048320] |
Chr17:80110797 [GRCh38] Chr17:78084596 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002715942] |
Chr17:80117627 [GRCh38] Chr17:78091426 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.-32-3del |
deletion |
Glycogen storage disease, type II [RCV002966981] |
Chr17:80104552 [GRCh38] Chr17:78078351 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2799+4A>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003029190] |
Chr17:80118809 [GRCh38] Chr17:78092608 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002580333] |
Chr17:80112650 [GRCh38] Chr17:78086449 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1326G>A (p.Val442=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003062698] |
Chr17:80108828 [GRCh38] Chr17:78082627 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003064493] |
Chr17:80108388 [GRCh38] Chr17:78082187 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.961G>T (p.Val321Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002647006] |
Chr17:80108295 [GRCh38] Chr17:78082094 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003086613] |
Chr17:80116988 [GRCh38] Chr17:78090787 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1472_1474del (p.Thr491del) |
deletion |
Glycogen storage disease, type II [RCV003045567] |
Chr17:80110759..80110761 [GRCh38] Chr17:78084558..78084560 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1637-12_1637-9del |
deletion |
Glycogen storage disease, type II [RCV003089385] |
Chr17:80111969..80111972 [GRCh38] Chr17:78085768..78085771 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002899543] |
Chr17:80112090 [GRCh38] Chr17:78085889 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1551+15C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003060552] |
Chr17:80110855 [GRCh38] Chr17:78084654 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003050493]|not provided [RCV003138470] |
Chr17:80105774 [GRCh38] Chr17:78079573 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2363C>A (p.Pro788His) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002721384] |
Chr17:80117631 [GRCh38] Chr17:78091430 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.272A>G (p.Asp91Gly) |
single nucleotide variant |
not provided [RCV003144094] |
Chr17:80104858 [GRCh38] Chr17:78078657 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.485A>G (p.Lys162Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003066465] |
Chr17:80105071 [GRCh38] Chr17:78078870 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1076-12G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002633425] |
Chr17:80108477 [GRCh38] Chr17:78082276 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003066472] |
Chr17:80113241 [GRCh38] Chr17:78087040 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1315A>G (p.Met439Val) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003052669] |
Chr17:80108817 [GRCh38] Chr17:78082616 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1636+18C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002605693] |
Chr17:80111043 [GRCh38] Chr17:78084842 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002814753] |
Chr17:80108388 [GRCh38] Chr17:78082187 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2734del (p.Ala912fs) |
deletion |
Glycogen storage disease, type II [RCV002634648] |
Chr17:80118739 [GRCh38] Chr17:78092538 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002584504] |
Chr17:80117609 [GRCh38] Chr17:78091408 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.506T>C (p.Leu169Pro) |
single nucleotide variant |
not provided [RCV003130953] |
Chr17:80105092 [GRCh38] Chr17:78078891 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr) |
single nucleotide variant |
not provided [RCV003130956] |
Chr17:80112927 [GRCh38] Chr17:78086726 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.693-19G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002585849] |
Chr17:80107538 [GRCh38] Chr17:78081337 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.237C>T (p.Pro79=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002586746] |
Chr17:80104823 [GRCh38] Chr17:78078622 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003071567] |
Chr17:80118764 [GRCh38] Chr17:78092563 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.861C>G (p.Pro287=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002634689] |
Chr17:80107802 [GRCh38] Chr17:78081601 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.934C>T (p.Leu312=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002608625] |
Chr17:80107875 [GRCh38] Chr17:78081674 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1107G>C (p.Leu369=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002582768] |
Chr17:80108520 [GRCh38] Chr17:78082319 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.859-18G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003052145] |
Chr17:80107782 [GRCh38] Chr17:78081581 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.955+18C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV002635861] |
Chr17:80107914 [GRCh38] Chr17:78081713 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+16G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002588459] |
Chr17:80105148 [GRCh38] Chr17:78078947 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1731G>A (p.Leu577=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002634808] |
Chr17:80112077 [GRCh38] Chr17:78085876 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003071453] |
Chr17:80109998 [GRCh38] Chr17:78083797 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.859-14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003092702] |
Chr17:80107786 [GRCh38] Chr17:78081585 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del) |
microsatellite |
Glycogen storage disease, type II [RCV002814630] |
Chr17:80108571..80108573 [GRCh38] Chr17:78082370..78082372 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1956C>T (p.Asn652=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002611238] |
Chr17:80112943 [GRCh38] Chr17:78086742 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003052773] |
Chr17:80117044 [GRCh38] Chr17:78090843 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1326+16C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV002611612] |
Chr17:80108844 [GRCh38] Chr17:78082643 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.897G>C (p.Leu299=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV002589276] |
Chr17:80107838 [GRCh38] Chr17:78081637 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003050496] |
Chr17:80112650 [GRCh38] Chr17:78086449 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.264C>G (p.Ser88Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003070816] |
Chr17:80104850 [GRCh38] Chr17:78078649 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2646+3G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV002586265] |
Chr17:80118360 [GRCh38] Chr17:78092159 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1755-20G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003073416] |
Chr17:80112558 [GRCh38] Chr17:78086357 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1961C>G (p.Ser654Ter) |
single nucleotide variant |
not provided [RCV003145756] |
Chr17:80112948 [GRCh38] Chr17:78086747 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1541del (p.Gly514fs) |
deletion |
not provided [RCV003145761] |
Chr17:80110829 [GRCh38] Chr17:78084628 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1552-2A>C |
single nucleotide variant |
not provided [RCV003145767] |
Chr17:80110939 [GRCh38] Chr17:78084738 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003155907] |
Chr17:80112009 [GRCh38] Chr17:78085808 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2465A>G (p.Tyr822Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003216455] |
Chr17:80117733 [GRCh38] Chr17:78091532 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2591G>A (p.Ser864Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003210969] |
Chr17:80118302 [GRCh38] Chr17:78092101 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2444A>T (p.Asn815Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV003181486] |
Chr17:80117712 [GRCh38] Chr17:78091511 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del |
deletion |
Glycogen storage disease, type II [RCV003226643] |
Chr17:78091991..78092157 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.40_47del (p.Ala14fs) |
deletion |
Glycogen storage disease, type II [RCV003159295] |
Chr17:80104623..80104630 [GRCh38] Chr17:78078422..78078429 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2477del (p.Leu826fs) |
deletion |
not provided [RCV003143306] |
Chr17:80117745 [GRCh38] Chr17:78091544 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1304G>T (p.Gly435Val) |
single nucleotide variant |
not provided [RCV003143443] |
Chr17:80108806 [GRCh38] Chr17:78082605 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2095C>T (p.Leu699Phe) |
single nucleotide variant |
not provided [RCV003143444] |
Chr17:80113272 [GRCh38] Chr17:78087071 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2635C>G (p.Leu879Val) |
single nucleotide variant |
not provided [RCV003143445] |
Chr17:80118346 [GRCh38] Chr17:78092145 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2234T>G (p.Leu745Arg) |
single nucleotide variant |
not provided [RCV003143446] |
Chr17:80117012 [GRCh38] Chr17:78090811 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2563G>A (p.Gly855Arg) |
single nucleotide variant |
not provided [RCV003143449] |
Chr17:80118274 [GRCh38] Chr17:78092073 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1571A>C (p.Asn524Thr) |
single nucleotide variant |
not provided [RCV003143450] |
Chr17:80110960 [GRCh38] Chr17:78084759 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.874T>C (p.Tyr292His) |
single nucleotide variant |
not provided [RCV003143451] |
Chr17:80107815 [GRCh38] Chr17:78081614 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.158A>G (p.His53Arg) |
single nucleotide variant |
not provided [RCV003143452] |
Chr17:80104744 [GRCh38] Chr17:78078543 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2848A>T (p.Ser950Cys) |
single nucleotide variant |
not provided [RCV003143453] |
Chr17:80119320 [GRCh38] Chr17:78093119 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1244C>T (p.Thr415Met) |
single nucleotide variant |
not provided [RCV003135289] |
Chr17:80108746 [GRCh38] Chr17:78082545 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.257C>A (p.Pro86His) |
single nucleotide variant |
not provided [RCV003135290] |
Chr17:80104843 [GRCh38] Chr17:78078642 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2093C>A (p.Ala698Asp) |
single nucleotide variant |
not provided [RCV003135291] |
Chr17:80113270 [GRCh38] Chr17:78087069 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2189+4A>G |
single nucleotide variant |
not provided [RCV003135294] |
Chr17:80113370 [GRCh38] Chr17:78087169 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1637-40G>A |
single nucleotide variant |
not provided [RCV003135295] |
Chr17:80111943 [GRCh38] Chr17:78085742 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1643T>G (p.Val548Gly) |
single nucleotide variant |
not provided [RCV003135296] |
Chr17:80111989 [GRCh38] Chr17:78085788 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.829A>G (p.Thr277Ala) |
single nucleotide variant |
not provided [RCV003142544] |
Chr17:80107693 [GRCh38] Chr17:78081492 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2557G>C (p.Ala853Pro) |
single nucleotide variant |
not provided [RCV003142545] |
Chr17:80118268 [GRCh38] Chr17:78092067 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2200G>A (p.Asp734Asn) |
single nucleotide variant |
not provided [RCV003142546] |
Chr17:80116978 [GRCh38] Chr17:78090777 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs) |
deletion |
Glycogen storage disease, type II [RCV003226644] |
Chr17:80113243..80113246 [GRCh38] Chr17:78087042..78087045 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003229549] |
Chr17:80112019 [GRCh38] Chr17:78085818 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2122del (p.His708fs) |
deletion |
Glycogen storage disease, type II [RCV003323314] |
Chr17:80113295 [GRCh38] Chr17:78087094 [GRCh37] Chr17:17q25.3 |
pathogenic|likely pathogenic |
NM_000152.5(GAA):c.710C>A (p.Ala237Glu) |
single nucleotide variant |
not provided [RCV003481490]|not specified [RCV003324307] |
Chr17:80107574 [GRCh38] Chr17:78081373 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1347_1350del (p.Gly450fs) |
deletion |
not provided [RCV003324951] |
Chr17:80109964..80109967 [GRCh38] Chr17:78083763..78083766 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2772del (p.Asn925fs) |
deletion |
Glycogen storage disease, type II [RCV003324101] |
Chr17:80118777 [GRCh38] Chr17:78092576 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1252A>G (p.Lys418Glu) |
single nucleotide variant |
not provided [RCV003327759] |
Chr17:80108754 [GRCh38] Chr17:78082553 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1845G>A (p.Gly615=) |
single nucleotide variant |
not provided [RCV003326977] |
Chr17:80112668 [GRCh38] Chr17:78086467 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2455C>A (p.Arg819=) |
single nucleotide variant |
not provided [RCV003326978] |
Chr17:80117723 [GRCh38] Chr17:78091522 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003337919] |
Chr17:80118708 [GRCh38] Chr17:78092507 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2609G>C (p.Arg870Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380117] |
Chr17:80118320 [GRCh38] Chr17:78092119 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.81G>A (p.Leu27=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380119] |
Chr17:80104667 [GRCh38] Chr17:78078466 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1191C>T (p.Pro397=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380118] |
Chr17:80108604 [GRCh38] Chr17:78082403 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.144C>A (p.Val48=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003377169] |
Chr17:80104730 [GRCh38] Chr17:78078529 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003468228] |
Chr17:80112067 [GRCh38] Chr17:78085866 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer) |
indel |
Glycogen storage disease, type II [RCV003468232] |
Chr17:80118661..80118662 [GRCh38] Chr17:78092460..78092461 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1494del (p.Trp498fs) |
deletion |
Glycogen storage disease, type II [RCV003468236] |
Chr17:80110782 [GRCh38] Chr17:78084581 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1396dup (p.Val466fs) |
duplication |
Glycogen storage disease, type II [RCV003468237] |
Chr17:80110008..80110009 [GRCh38] Chr17:78083807..78083808 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1407del (p.Asn470fs) |
deletion |
Glycogen storage disease, type II [RCV003461604] |
Chr17:80110024 [GRCh38] Chr17:78083823 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.873_874del (p.Tyr292fs) |
microsatellite |
Glycogen storage disease, type II [RCV003461606] |
Chr17:80107812..80107813 [GRCh38] Chr17:78081611..78081612 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer) |
deletion |
Glycogen storage disease, type II [RCV003461613] |
Chr17:80105073..80105107 [GRCh38] Chr17:78078872..78078906 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.84dup (p.His29fs) |
duplication |
Glycogen storage disease, type II [RCV003461621] |
Chr17:80104666..80104667 [GRCh38] Chr17:78078465..78078466 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1075+1G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461602] |
Chr17:80108410 [GRCh38] Chr17:78082209 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.396dup (p.Tyr133fs) |
duplication |
Glycogen storage disease, type II [RCV003461601] |
Chr17:80104981..80104982 [GRCh38] Chr17:78078780..78078781 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461599] |
Chr17:80113002 [GRCh38] Chr17:78086801 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1798del (p.Arg600fs) |
deletion |
Glycogen storage disease, type II [RCV003461598] |
Chr17:80112619 [GRCh38] Chr17:78086418 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2799+2C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461595] |
Chr17:80118807 [GRCh38] Chr17:78092606 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1194+15T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503241] |
Chr17:80108622 [GRCh38] Chr17:78082421 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2332-7C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503253] |
Chr17:80117593 [GRCh38] Chr17:78091392 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.504G>T (p.Arg168=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503276] |
Chr17:80105090 [GRCh38] Chr17:78078889 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2672del (p.Arg891fs) |
deletion |
Glycogen storage disease, type II [RCV003461609] |
Chr17:80118678 [GRCh38] Chr17:78092477 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461617] |
Chr17:80108707 [GRCh38] Chr17:78082506 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.389del (p.Pro130fs) |
deletion |
Glycogen storage disease, type II [RCV003461600] |
Chr17:80104973 [GRCh38] Chr17:78078772 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461594] |
Chr17:80110745 [GRCh38] Chr17:78084544 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503687] |
Chr17:80117105 [GRCh38] Chr17:78090904 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.693-11C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003873573] |
Chr17:80107546 [GRCh38] Chr17:78081345 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503791] |
Chr17:80112645 [GRCh38] Chr17:78086444 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2859G>A (p.Ter953=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503325] |
Chr17:80119331 [GRCh38] Chr17:78093130 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.859-1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503334] |
Chr17:80107799 [GRCh38] Chr17:78081598 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1195-7del |
deletion |
Glycogen storage disease, type II [RCV003503348] |
Chr17:80108689 [GRCh38] Chr17:78082488 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1561del (p.Glu521fs) |
deletion |
Glycogen storage disease, type II [RCV003503381] |
Chr17:80110950 [GRCh38] Chr17:78084749 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2481+10C>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503322] |
Chr17:80117759 [GRCh38] Chr17:78091558 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1889-18C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503358] |
Chr17:80112858 [GRCh38] Chr17:78086657 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503952] |
Chr17:80112929 [GRCh38] Chr17:78086728 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.955+9C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504034] |
Chr17:80107905 [GRCh38] Chr17:78081704 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2041-20T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503309] |
Chr17:80113198 [GRCh38] Chr17:78086997 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503349] |
Chr17:80108545 [GRCh38] Chr17:78082344 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003875032] |
Chr17:80116982 [GRCh38] Chr17:78090781 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1075+7C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503391] |
Chr17:80108416 [GRCh38] Chr17:78082215 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1438-9G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503450] |
Chr17:80110718 [GRCh38] Chr17:78084517 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1902T>C (p.Phe634=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503452] |
Chr17:80112889 [GRCh38] Chr17:78086688 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.956-13G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503723] |
Chr17:80108277 [GRCh38] Chr17:78082076 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2647-14T>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503752] |
Chr17:80118639 [GRCh38] Chr17:78092438 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.822C>T (p.Thr274=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504164] |
Chr17:80107686 [GRCh38] Chr17:78081485 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2647-25_2647-18del |
deletion |
Glycogen storage disease, type II [RCV003503481] |
Chr17:80118626..80118633 [GRCh38] Chr17:78092425..78092432 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2723del (p.Gly908fs) |
deletion |
Glycogen storage disease, type II [RCV003461607] |
Chr17:80118727 [GRCh38] Chr17:78092526 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.678G>T (p.Leu226=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503535] |
Chr17:80105880 [GRCh38] Chr17:78079679 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2482-1G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503564] |
Chr17:80118192 [GRCh38] Chr17:78091991 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2189+2T>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461610] |
Chr17:80113368 [GRCh38] Chr17:78087167 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1117del (p.Leu373fs) |
deletion |
Glycogen storage disease, type II [RCV003461596] |
Chr17:80108529 [GRCh38] Chr17:78082328 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1195-4G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503642] |
Chr17:80108693 [GRCh38] Chr17:78082492 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.742C>T (p.Leu248=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503735] |
Chr17:80107606 [GRCh38] Chr17:78081405 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.546+10G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503779] |
Chr17:80105142 [GRCh38] Chr17:78078941 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503962] |
Chr17:80113286 [GRCh38] Chr17:78087085 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.499C>T (p.Leu167=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504053] |
Chr17:80105085 [GRCh38] Chr17:78078884 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.955+12_955+18del |
deletion |
Glycogen storage disease, type II [RCV003504054] |
Chr17:80107904..80107910 [GRCh38] Chr17:78081703..78081709 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1438-12C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504144] |
Chr17:80110715 [GRCh38] Chr17:78084514 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2331+4A>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003468238] |
Chr17:80117113 [GRCh38] Chr17:78090912 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer) |
deletion |
Glycogen storage disease, type II [RCV003503782] |
Chr17:80109983 [GRCh38] Chr17:78083782 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1636+7del |
deletion |
Glycogen storage disease, type II [RCV003503880] |
Chr17:80111032 [GRCh38] Chr17:78084831 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1075+15C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503902] |
Chr17:80108424 [GRCh38] Chr17:78082223 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.925G>T (p.Gly309Trp) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504363] |
Chr17:80107866 [GRCh38] Chr17:78081665 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1889-4C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504422] |
Chr17:80112872 [GRCh38] Chr17:78086671 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.318C>A (p.Arg106=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003875119] |
Chr17:80104904 [GRCh38] Chr17:78078703 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1437+20G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503955] |
Chr17:80110075 [GRCh38] Chr17:78083874 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2482-17T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503859] |
Chr17:80118176 [GRCh38] Chr17:78091975 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter) |
microsatellite |
Glycogen storage disease, type II [RCV003503978] |
Chr17:80118677..80118678 [GRCh38] Chr17:78092476..78092477 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2235G>T (p.Leu745=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503986] |
Chr17:80117013 [GRCh38] Chr17:78090812 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.741G>A (p.Gln247=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504026] |
Chr17:80107605 [GRCh38] Chr17:78081404 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.693-14C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504115] |
Chr17:80107543 [GRCh38] Chr17:78081342 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.955+11C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504045] |
Chr17:80107907 [GRCh38] Chr17:78081706 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2331+20G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504098] |
Chr17:80117129 [GRCh38] Chr17:78090928 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.693-6C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504113] |
Chr17:80107551 [GRCh38] Chr17:78081350 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2304C>G (p.Pro768=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003873900] |
Chr17:80117082 [GRCh38] Chr17:78090881 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.723T>C (p.Phe241=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504240] |
Chr17:80107587 [GRCh38] Chr17:78081386 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2799+17T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504248] |
Chr17:80118822 [GRCh38] Chr17:78092621 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2190-7C>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504204] |
Chr17:80116961 [GRCh38] Chr17:78090760 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504345] |
Chr17:80113001 [GRCh38] Chr17:78086800 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003504314] |
Chr17:80108409 [GRCh38] Chr17:78082208 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.156_157del (p.His53fs) |
deletion |
Glycogen storage disease, type II [RCV003874797] |
Chr17:80104741..80104742 [GRCh38] Chr17:78078540..78078541 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1552-10del |
deletion |
Glycogen storage disease, type II [RCV003502843] |
Chr17:80110930 [GRCh38] Chr17:78084729 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1888+15G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502854] |
Chr17:80112726 [GRCh38] Chr17:78086525 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.889_890insG (p.Phe297fs) |
insertion |
Glycogen storage disease, type II [RCV003503000] |
Chr17:80107830..80107831 [GRCh38] Chr17:78081629..78081630 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.656G>A (p.Gly219Glu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502887] |
Chr17:80105858 [GRCh38] Chr17:78079657 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502895] |
Chr17:80113308 [GRCh38] Chr17:78087107 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1635T>A (p.Pro545=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503072] |
Chr17:80111024 [GRCh38] Chr17:78084823 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.742del (p.Leu248fs) |
deletion |
not provided [RCV003480450] |
Chr17:80107606 [GRCh38] Chr17:78081405 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.381C>T (p.Cys127=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003875756] |
Chr17:80104967 [GRCh38] Chr17:78078766 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1551+10G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502759] |
Chr17:80110850 [GRCh38] Chr17:78084649 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1306C>A (p.Arg436=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502745] |
Chr17:80108808 [GRCh38] Chr17:78082607 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1437+16_1437+22dup |
duplication |
Glycogen storage disease, type II [RCV003503017] |
Chr17:80110069..80110070 [GRCh38] Chr17:78083868..78083869 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del) |
deletion |
Glycogen storage disease, type II [RCV003503071] |
Chr17:80111997..80112002 [GRCh38] Chr17:78085796..78085801 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502928] |
Chr17:80108536 [GRCh38] Chr17:78082335 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.546+7_546+12del |
deletion |
Glycogen storage disease, type II [RCV003502933] |
Chr17:80105139..80105144 [GRCh38] Chr17:78078938..78078943 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2799+18G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502992] |
Chr17:80118823 [GRCh38] Chr17:78092622 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.266G>T (p.Arg89Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503047] |
Chr17:80104852 [GRCh38] Chr17:78078651 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.693-9G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503335] |
Chr17:80107548 [GRCh38] Chr17:78081347 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2442C>T (p.Ile814=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503458] |
Chr17:80117710 [GRCh38] Chr17:78091509 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503488] |
Chr17:80118265 [GRCh38] Chr17:78092064 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.955+13C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502891] |
Chr17:80107909 [GRCh38] Chr17:78081708 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1782C>A (p.Arg594=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502908] |
Chr17:80112605 [GRCh38] Chr17:78086404 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502923] |
Chr17:80112678 [GRCh38] Chr17:78086477 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1888+10T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502944] |
Chr17:80112721 [GRCh38] Chr17:78086520 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2799+15A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503037] |
Chr17:80118820 [GRCh38] Chr17:78092619 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503510] |
Chr17:80112678 [GRCh38] Chr17:78086477 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.988_998del (p.Trp330fs) |
deletion |
Glycogen storage disease, type II [RCV003503621] |
Chr17:80108321..80108331 [GRCh38] Chr17:78082120..78082130 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1754+12G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502968] |
Chr17:80112112 [GRCh38] Chr17:78085911 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502980] |
Chr17:80110745 [GRCh38] Chr17:78084544 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2115C>G (p.Leu705=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503913] |
Chr17:80113292 [GRCh38] Chr17:78087091 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-10C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503973] |
Chr17:80109935 [GRCh38] Chr17:78083734 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.547-15C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503847] |
Chr17:80105734 [GRCh38] Chr17:78079533 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2331+17del |
deletion |
Glycogen storage disease, type II [RCV003503107] |
Chr17:80117126 [GRCh38] Chr17:78090925 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2320dup (p.Asp774fs) |
duplication |
Glycogen storage disease, type II [RCV003503108] |
Chr17:80117097..80117098 [GRCh38] Chr17:78090896..78090897 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.1195-19T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503117] |
Chr17:80108678 [GRCh38] Chr17:78082477 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs) |
deletion |
Glycogen storage disease, type II [RCV003503120] |
Chr17:80109973..80109982 [GRCh38] Chr17:78083772..78083781 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.2439C>A (p.Thr813=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503386] |
Chr17:80117707 [GRCh38] Chr17:78091506 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1327-18A>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503404] |
Chr17:80109927 [GRCh38] Chr17:78083726 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2800-11C>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503429] |
Chr17:80119261 [GRCh38] Chr17:78093060 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2040+9G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003503527] |
Chr17:80113036 [GRCh38] Chr17:78086835 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2647-12dup |
duplication |
Glycogen storage disease, type II [RCV003503590] |
Chr17:80118640..80118641 [GRCh38] Chr17:78092439..78092440 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1076-15G>T |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502770] |
Chr17:80108474 [GRCh38] Chr17:78082273 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2544C>G (p.Thr848=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003502824] |
Chr17:80118255 [GRCh38] Chr17:78092054 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1724A>T (p.Tyr575Phe) |
single nucleotide variant |
not specified [RCV003479754] |
Chr17:80112070 [GRCh38] Chr17:78085869 [GRCh37] Chr17:17q25.3 |
uncertain significance |
NM_000152.5(GAA):c.1924G>T (p.Val642Phe) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461603] |
Chr17:80112911 [GRCh38] Chr17:78086710 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1075+2T>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461608] |
Chr17:80108411 [GRCh38] Chr17:78082210 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003468225] |
Chr17:80117081 [GRCh38] Chr17:78090880 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1636+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003468235] |
Chr17:80111026 [GRCh38] Chr17:78084825 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2331+1G>C |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461605] |
Chr17:80117110 [GRCh38] Chr17:78090909 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2476del (p.Leu826fs) |
deletion |
Glycogen storage disease, type II [RCV003461612] |
Chr17:80117740 [GRCh38] Chr17:78091539 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.858+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461614] |
Chr17:80107723 [GRCh38] Chr17:78081522 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2122dup (p.His708fs) |
duplication |
Glycogen storage disease, type II [RCV003461618] |
Chr17:80113294..80113295 [GRCh38] Chr17:78087093..78087094 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.133del (p.Ser45fs) |
deletion |
Glycogen storage disease, type II [RCV003461619] |
Chr17:80104719 [GRCh38] Chr17:78078518 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2331+1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003461620] |
Chr17:80117110 [GRCh38] Chr17:78090909 [GRCh37] Chr17:17q25.3 |
pathogenic |
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003468226] |
Chr17:80104909 [GRCh38] Chr17:78078708 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003391170] |
Chr17:80110755 [GRCh38] Chr17:78084554 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2701del (p.Leu901fs) |
deletion |
Glycogen storage disease, type II [RCV003461611] |
Chr17:80118707 [GRCh38] Chr17:78092506 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.371_381del (p.Gln124fs) |
deletion |
Glycogen storage disease, type II [RCV003461615] |
Chr17:80104955..80104965 [GRCh38] Chr17:78078754..78078764 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.465dup (p.Thr156fs) |
duplication |
Glycogen storage disease, type II [RCV003461616] |
Chr17:80105049..80105050 [GRCh38] Chr17:78078848..78078849 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003468227] |
Chr17:80112622 [GRCh38] Chr17:78086421 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2332-1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003468229] |
Chr17:80117599 [GRCh38] Chr17:78091398 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1438-1G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003468230] |
Chr17:80110726 [GRCh38] Chr17:78084525 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs) |
duplication |
Glycogen storage disease, type II [RCV003468231] |
Chr17:80112989..80112990 [GRCh38] Chr17:78086788..78086789 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.1194+2T>G |
single nucleotide variant |
Glycogen storage disease, type II [RCV003468233] |
Chr17:80108609 [GRCh38] Chr17:78082408 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs) |
insertion |
Glycogen storage disease, type II [RCV003468234] |
Chr17:80118355..80118356 [GRCh38] Chr17:78092154..78092155 [GRCh37] Chr17:17q25.3 |
likely pathogenic |
NM_000152.5(GAA):c.693-20G>A |
single nucleotide variant |
Glycogen storage disease, type II [RCV003876632] |
Chr17:80107537 [GRCh38] Chr17:78081336 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.2193C>T (p.Phe731=) |
single nucleotide variant |
Glycogen storage disease, type II [RCV003878970] |
Chr17:80116971 [GRCh38] Chr17:78090770 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1755-16del |
deletion |
Glycogen storage disease, type II [RCV003824550] |
Chr17:80112562 [GRCh38] Chr17:78086361 [GRCh37] Chr17:17q25.3 |
likely benign |
NM_000152.5(GAA):c.1461C>G (p.Phe487Leu) |
single nucleotide variant |
not specified [RCV003332028] |
Chr17:80110750 [GRCh38] Chr17:78084549 [GRCh37] Chr17:17q25.3 |
uncertain significance |