Unique variants in the PRKAG2 gene

Information The variants shown are described using the NM_016203.3 transcript reference sequence.

188 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.-520C>T - p.(=) - VUS g.151574225G>A g.151877140G>A - - PRKAG2_000159 conflicting interpretations of pathogenicity; 35 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73160072 Germline - 35/2795 individuals - - - Mohammed Faruq
-/. 1 - c.-90G>T r.(?) p.(=) - benign g.151573795C>A g.151876710C>A - - PRKAG2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-37C>A r.(?) p.(=) - VUS g.151573742G>T g.151876657G>T - - PRKAG2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.-26C>T r.(?) p.(=) - benign g.151573731G>A g.151876646G>A PRKAG2(NM_016203.3):c.-26C>T - PRKAG2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.-19T>G r.(?) p.(=) - benign g.151573724A>C g.151876639A>C PRKAG2(NM_016203.3):c.-19T>G - PRKAG2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-12C>G r.(?) p.(=) - benign g.151573717G>C g.151876632G>C PRKAG2(NM_016203.3):c.-12C>G - PRKAG2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.32A>G r.(?) p.(Lys11Arg) - likely benign g.151573674T>C g.151876589T>C - - PRKAG2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.47G>C r.(?) p.(Ser16Thr) - VUS g.151573659C>G g.151876574C>G - - PRKAG2_000192 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
-?/. 1 - c.59G>A r.(?) p.(Ser20Asn) - likely benign g.151573647C>T - PRKAG2(NM_016203.3):c.59G>A (p.S20N) - PRKAG2_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 5 - c.59G>T r.(?) p.(Ser20Ile) - benign, likely benign g.151573647C>A g.151876562C>A PRKAG2(NM_016203.3):c.59G>T (p.S20I) - PRKAG2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.66C>T r.(?) p.(Gly22=) - VUS g.151573640G>A g.151876555G>A - - PRKAG2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.71A>G r.(?) p.(Lys24Arg) - likely benign g.151573635T>C g.151876550T>C PRKAG2(NM_016203.3):c.71A>G (p.K24R) - PRKAG2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 5 - c.111T>A r.(?) p.(Ile37=) - benign, likely benign g.151573595A>T g.151876510A>T PRKAG2(NM_016203.3):c.111T>A (p.I37=) - PRKAG2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 2 - c.114+12C>T r.(=) p.(=) - benign g.151573580G>A g.151876495G>A PRKAG2(NM_016203.3):c.114+12C>T - PRKAG2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.114+43C>T r.(=) p.(=) - benign g.151573549G>A g.151876464G>A - - PRKAG2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.114+44356G>A r.(=) p.(=) - VUS g.151529236C>T g.151832151= - - PRKAG2_000001 - - - - Germline - - - - - Yu Sun
-/. 1 - c.115-27861C>A r.(=) p.(=) - benign g.151511488G>T g.151814402G>T - - PRKAG2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.115-27855C>A r.(=) p.(=) - VUS g.151511482G>T g.151814396G>T - - PRKAG2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.115-269G>C r.(=) p.(=) - benign g.151483896C>G g.151786810C>G - - PRKAG2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.115-25A>G r.(=) p.(=) - benign g.151483652T>C g.151786566T>C PRKAG2(NM_016203.3):c.115-25A>G - PRKAG2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 5 - c.123C>T r.(?) p.(Ser41=) - benign, likely benign g.151483619G>A g.151786533G>A PRKAG2(NM_016203.3):c.123C>T (p.S41=, p.=) - PRKAG2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.130G>A r.(?) p.(Ala44Thr) - likely benign g.151483612C>T g.151786526C>T PRKAG2(NM_016203.3):c.130G>A (p.A44T) - PRKAG2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.137C>T r.(?) p.(Pro46Leu) - VUS g.151483605G>A g.151786519G>A PRKAG2(NM_016203.3):c.137C>T (p.P46L) - PRKAG2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.147C>T r.(?) p.(Asp49=) - benign, likely benign g.151483595G>A g.151786509G>A PRKAG2(NM_016203.3):c.147C>T (p.D49=) - PRKAG2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/., ?/. 2 - c.166G>A r.(?) p.(Gly56Arg) - likely benign, VUS g.151483576C>T g.151786490C>T PRKAG2(NM_016203.3):c.166G>A (p.G56R) - PRKAG2_000165 VKGL data sharing initiative Nederland PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/2438 cases - - - Johan den Dunnen, VKGL-NL_Utrecht
-/. 1 - c.171G>A r.(?) p.(Lys57=) - benign g.151483571C>T g.151786485C>T PRKAG2(NM_016203.3):c.171G>A (p.K57=) - PRKAG2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.186G>T r.(?) p.(Lys62Asn) - VUS g.151483556C>A g.151786470C>A - - PRKAG2_000191 - PubMed: Walsh 2017 - - Germline - 1/2438 cases - - - Johan den Dunnen
-/. 1 - c.186+111T>C r.(=) p.(=) - benign g.151483445A>G g.151786359A>G - - PRKAG2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.187-96G>A r.(=) p.(=) - benign g.151478613C>T g.151781527C>T - - PRKAG2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.187-85A>G r.(=) p.(=) - benign g.151478602T>C g.151781516T>C - - PRKAG2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.187-16G>A r.(=) p.(=) - benign g.151478533C>T g.151781447C>T PRKAG2(NM_016203.3):c.187-16G>A - PRKAG2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.196C>G r.(?) p.(Pro66Ala) - likely benign g.151478508G>C g.151781422G>C - - PRKAG2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.207G>A r.(?) p.(Pro69=) - benign, likely benign g.151478497C>T g.151781411C>T PRKAG2(NM_016203.3):c.207G>A (p.P69=) - PRKAG2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.207G>T r.(?) p.(Pro69=) - likely benign g.151478497C>A g.151781411C>A PRKAG2(NM_016203.3):c.207G>T (p.P69=) - PRKAG2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.235A>G r.(?) p.(Arg79Gly) - VUS g.151478469T>C g.151781383T>C PRKAG2(NM_016203.3):c.235A>G (p.R79G) - PRKAG2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.240C>A r.(?) p.(Gly80=) - benign, likely benign g.151478464G>T g.151781378G>T PRKAG2(NM_016203.3):c.240C>A (p.G80=) - PRKAG2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.240C>T r.(?) p.(Gly80=) - likely benign g.151478464G>A g.151781378G>A PRKAG2(NM_016203.3):c.240C>T (p.G80=) - PRKAG2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.245A>C r.(?) p.(Gln82Pro) - likely benign g.151478459T>G g.151781373T>G - - PRKAG2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 4 - c.247C>T r.(?) p.(Pro83Ser) - likely benign g.151478457G>A g.151781371G>A PRKAG2(NM_016203.3):c.247C>T (p.P83S) - PRKAG2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.248C>T r.(?) p.(Pro83Leu) - likely benign g.151478456G>A g.151781370G>A PRKAG2(NM_016203.3):c.248C>T (p.P83L) - PRKAG2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.250C>T r.(?) p.(Arg84Trp) - likely benign g.151478454G>A g.151781368G>A PRKAG2(NM_016203.3):c.250C>T (p.R84W) - PRKAG2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.251G>C r.(?) p.(Arg84Pro) - VUS g.151478453C>G g.151781367C>G - - PRKAG2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.253C>T r.(?) p.(Pro85Ser) - VUS g.151478451G>A g.151781365G>A PRKAG2(NM_016203.3):c.253C>T (p.P85S) - PRKAG2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.270T>A r.(?) p.(Ser90=) - VUS g.151478434A>T g.151781348A>T - - PRKAG2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.276T>A r.(?) p.(Pro92=) - likely benign g.151478428A>T g.151781342A>T - - PRKAG2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 4 - c.298G>A r.(?) p.(Gly100Ser) - benign, likely benign g.151478406C>T g.151781320C>T PRKAG2(NM_016203.3):c.298G>A (p.G100S) - PRKAG2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.312C>T r.(?) p.(Thr104=) - likely benign g.151478392G>A g.151781306G>A PRKAG2(NM_016203.3):c.312C>T (p.T104=) - PRKAG2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.320C>T r.(?) p.(Pro107Leu) - VUS g.151478384G>A g.151781298G>A - - PRKAG2_000004 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - Ellika Sahlin
-?/. 1 - c.325T>G r.(?) p.(Ser109Ala) - likely benign g.151478379A>C g.151781293A>C PRKAG2(NM_016203.3):c.325T>G (p.S109A) - PRKAG2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.341C>T r.(?) p.(Pro114Leu) - VUS g.151478363G>A g.151781277G>A - - PRKAG2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.346C>T r.(?) p.(Arg116Cys) - VUS g.151478358G>A g.151781272G>A PRKAG2(NM_016203.3):c.346C>T (p.R116C) - PRKAG2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.347G>A r.(?) p.(Arg116His) - VUS g.151478357C>T - PRKAG2(NM_016203.3):c.347G>A (p.R116H) - PRKAG2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.356G>A r.(?) p.(Arg119Gln) - likely benign g.151478348C>T g.151781262C>T PRKAG2(NM_016203.3):c.356G>A (p.R119Q) - PRKAG2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.382C>T r.(?) p.(Arg128Cys) - VUS g.151478322G>A g.151781236G>A PRKAG2(NM_016203.3):c.382C>T (p.R128C) - PRKAG2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.395A>G r.(?) p.(Lys132Arg) - VUS g.151478309T>C g.151781223T>C PRKAG2(NM_016203.3):c.395A>G (p.K132R) - PRKAG2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.418C>T r.(?) p.(Pro140Ser) - VUS g.151478286G>A g.151781200G>A PRKAG2(NM_016203.3):c.418C>T (p.P140S) - PRKAG2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 3 - c.425C>T r.(?) p.(Thr142Ile) - VUS g.151478279G>A g.151781193G>A PRKAG2(NM_016203.3):c.425C>T (p.T142I) - PRKAG2_000040 VKGL data sharing initiative Nederland, VUS favour pathogenic PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/191 cases, 1/2438 cases - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.428C>T r.(?) p.(Ser143Leu) - VUS g.151478276G>A g.151781190G>A - - PRKAG2_000190 - PubMed: Walsh 2017 - - Germline - 1/2438 cases - - - Johan den Dunnen
?/. 1 - c.431C>T r.(?) p.(Pro144Leu) - VUS g.151478273G>A g.151781187G>A - - PRKAG2_000189 - PubMed: Walsh 2017 - - Germline - 2/1535 cases - - - Johan den Dunnen
+?/. 1 - c.432dup r.(?) p.(Gly145ArgfsTer37) - likely pathogenic g.151478274dup g.151781188dup - - PRKAG2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.433G>A r.(?) p.(Gly145Arg) - VUS g.151478271C>T - PRKAG2(NM_016203.3):c.433G>A (p.G145R) - PRKAG2_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.442A>G r.(?) p.(Arg148Gly) - likely benign g.151478262T>C g.151781176T>C PRKAG2(NM_016203.3):c.442A>G (p.R148G) - PRKAG2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.454C>T r.(?) p.(Arg152Cys) - VUS g.151478250G>A g.151781164G>A PRKAG2(NM_016203.3):c.454C>T (p.R152C) - PRKAG2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.455G>A r.(?) p.(Arg152His) - VUS g.151478249C>T g.151781163C>T PRKAG2(NM_016203.3):c.455G>A (p.R152H) - PRKAG2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.466+45150C>T r.(=) p.(=) - benign g.151433088G>A g.151736002G>A PRKAG2(NM_001304527.1):c.-9C>T - PRKAG2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.466+45165C>T r.(=) p.(=) - VUS g.151433073G>A - PRKAG2(NM_001304527.1):c.7C>T (p.R3C) - PRKAG2_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.466+45240C>T r.(=) p.(=) - VUS g.151432998G>A - PRKAG2(NM_001304527.1):c.82C>T (p.H28Y) - PRKAG2_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.466+45241A>C r.(=) p.(=) - benign g.151432997T>G g.151735911T>G PRKAG2(NM_001304527.1):c.83A>C (p.H28P) - PRKAG2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.466+45251C>T r.(=) p.(=) - likely benign g.151432987G>A g.151735901G>A PRKAG2(NM_001304527.1):c.93C>T (p.F31=) - PRKAG2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.467-21T>C r.(=) p.(=) - likely benign g.151372744A>G g.151675658A>G - - PRKAG2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.471C>T r.(?) p.(Ser157=) - benign, likely benign g.151372719G>A g.151675633G>A PRKAG2(NM_016203.3):c.471C>T (p.S157=) - PRKAG2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.472G>A r.(?) p.(Gly158Ser) - likely benign g.151372718C>T g.151675632C>T PRKAG2(NM_016203.3):c.472G>A (p.G158S) - PRKAG2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.488C>T r.(?) p.(Pro163Leu) - VUS g.151372702G>A g.151675616G>A - - PRKAG2_000188 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
?/. 1 - c.500C>T r.(?) p.(Thr167Ile) - VUS g.151372690G>A g.151675604G>A - - PRKAG2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.504A>C r.(?) p.(Gln168His) - VUS g.151372686T>G g.151675600T>G PRKAG2(NM_016203.3):c.504A>C (p.Q168H) - PRKAG2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.515A>C r.(?) p.(Gln172Pro) - likely benign g.151372675T>G g.151675589T>G - - PRKAG2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.521C>T r.(?) p.(Thr174Met) - VUS g.151372669G>A g.151675583G>A PRKAG2(NM_016203.3):c.521C>T (p.T174M) - PRKAG2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.531G>T r.(?) p.(Leu177=) - benign, likely benign g.151372659C>A g.151675573C>A PRKAG2(NM_016203.3):c.531G>T (p.L177=) - PRKAG2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.532G>A r.(?) p.(Glu178Lys) - VUS g.151372658C>T g.151675572C>T - - PRKAG2_000187 - PubMed: Walsh 2017 - - Germline - 1/2438 cases - - - Johan den Dunnen
?/. 1 - c.554A>T r.(?) p.(Glu185Val) - VUS g.151372636T>A g.151675550T>A PRKAG2(NM_016203.3):c.554A>T (p.E185V) - PRKAG2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.563A>G r.(?) p.(Glu188Gly) - VUS g.151372627T>C g.151675541T>C - - PRKAG2_000186 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
-/. 1 - c.582G>A r.(?) p.(Ser194=) - benign g.151372608C>T - PRKAG2(NM_016203.3):c.582G>A (p.S194=) - PRKAG2_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.590C>G r.(?) p.(Pro197Arg) - VUS g.151372600G>C g.151675514G>C - - PRKAG2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.590C>T r.(?) p.(Pro197Leu) - VUS g.151372600G>A g.151675514G>A PRKAG2(NM_016203.3):c.590C>T (p.P197L) - PRKAG2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 2 - c.593dup r.(?) p.(Asp199Glyfs*74), p.(Asp199GlyfsTer74) - VUS g.151372603dup g.151675517dup 593_594insC, PRKAG2(NM_016203.3):c.593dupC (p.D199Gfs*74) - PRKAG2_000119 VKGL data sharing initiative Nederland PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/2438 cases - - - Johan den Dunnen, VKGL-NL_Utrecht
-?/. 1 - c.594G>A r.(?) p.(Pro198=) - likely benign g.151372596C>T g.151675510C>T PRKAG2(NM_016203.3):c.594G>A (p.P198=) - PRKAG2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.607_611del r.(?) p.(Arg203LeufsTer68) - likely benign g.151372579_151372583del g.151675493_151675497del PRKAG2(NM_016203.3):c.607_611delAGGTT (p.R203Lfs*68) - PRKAG2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.608G>A r.(?) p.(Arg203Lys) - VUS g.151372582C>T g.151675496C>T - - PRKAG2_000185 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
?/. 1 - c.620C>G r.(?) p.(Ser207Cys) - VUS g.151372570G>C g.151675484G>C - - PRKAG2_000184 - PubMed: Walsh 2017 - - Germline - 1/191 cases - - - Johan den Dunnen
-/. 4 - c.639C>T r.(?) p.(Thr213=) - benign g.151372551G>A g.151675465G>A PRKAG2(NM_016203.3):c.639C>T (p.T213=) - PRKAG2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.685-12C>T r.(=) p.(=) - benign g.151329236G>A g.151632150G>A PRKAG2(NM_024429.1):c.-51C>T - PRKAG2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.688dup r.(?) p.(Ala230Glyfs*43) - VUS g.151329222dup - PRKAG2(NM_016203.3):c.688dupG (p.A230Gfs*43) - PRKAG2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.690G>A r.(?) p.(Ala230=) - likely benign g.151329219C>T g.151632133C>T PRKAG2(NM_016203.3):c.690G>A (p.A230=) - PRKAG2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.698C>G r.(?) p.(Ala233Gly) - likely benign g.151329211G>C g.151632125G>C - - PRKAG2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.702C>T r.(?) p.(Ala234=) - likely benign g.151329207G>A g.151632121G>A - - PRKAG2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.703C>T r.(?) p.(Leu235=) - likely benign g.151329206G>A - - - PRKAG2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.703_704del r.(?) p.(Leu235GlyfsTer37) - VUS g.151329205_151329206del g.151632119_151632120del - - PRKAG2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.704T>A r.(?) p.(Leu235Gln) - VUS g.151329205A>T g.151632119A>T - - PRKAG2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.704T>C r.(?) p.(Leu235Pro) - likely benign g.151329205A>G g.151632119A>G - - PRKAG2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3 - c.712G>A r.(?) p.(Ala238Thr) - VUS g.151329197C>T g.151632111C>T PRKAG2(NM_016203.3):c.712G>A (p.A238T) - PRKAG2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
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