Full data view for gene PRKAG2

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

279 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-520C>T - p.(=) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 35 Mohammed Faruq
-/. - c.-90G>T r.(?) p.(=) Unknown - benign g.151573795C>A g.151876710C>A - - PRKAG2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-37C>A r.(?) p.(=) Unknown - VUS g.151573742G>T g.151876657G>T - - PRKAG2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-26C>T r.(?) p.(=) Unknown - benign g.151573731G>A g.151876646G>A PRKAG2(NM_016203.3):c.-26C>T - PRKAG2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-26C>T r.(?) p.(=) Unknown - benign g.151573731G>A g.151876646G>A PRKAG2(NM_016203.3):c.-26C>T - PRKAG2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-19T>G r.(?) p.(=) Unknown - benign g.151573724A>C g.151876639A>C PRKAG2(NM_016203.3):c.-19T>G - PRKAG2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-12C>G r.(?) p.(=) Unknown - benign g.151573717G>C g.151876632G>C PRKAG2(NM_016203.3):c.-12C>G - PRKAG2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.32A>G r.(?) p.(Lys11Arg) Unknown - likely benign g.151573674T>C g.151876589T>C - - PRKAG2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47G>C r.(?) p.(Ser16Thr) Unknown - VUS g.151573659C>G g.151876574C>G - - PRKAG2_000192 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. - c.59G>A r.(?) p.(Ser20Asn) Unknown - likely benign g.151573647C>T - PRKAG2(NM_016203.3):c.59G>A (p.S20N) - PRKAG2_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59G>T r.(?) p.(Ser20Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.59G>T r.(?) p.(Ser20Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.59G>T r.(?) p.(Ser20Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.59G>T r.(?) p.(Ser20Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.59G>T r.(?) p.(Ser20Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.66C>T r.(?) p.(Gly22=) Unknown - VUS g.151573640G>A g.151876555G>A - - PRKAG2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71A>G r.(?) p.(Lys24Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.111T>A r.(?) p.(Ile37=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.111T>A r.(?) p.(Ile37=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.111T>A r.(?) p.(Ile37=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.111T>A r.(?) p.(Ile37=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.111T>A r.(?) p.(Ile37=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114+12C>T r.(=) p.(=) Unknown - benign g.151573580G>A g.151876495G>A PRKAG2(NM_016203.3):c.114+12C>T - PRKAG2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.114+12C>T r.(=) p.(=) Unknown - benign g.151573580G>A g.151876495G>A PRKAG2(NM_016203.3):c.114+12C>T - PRKAG2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114+43C>T r.(=) p.(=) Unknown - benign g.151573549G>A g.151876464G>A - - PRKAG2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.114+44356G>A r.(=) p.(=) Both (homozygous) - VUS g.151529236C>T g.151832151= - - PRKAG2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.115-27861C>A r.(=) p.(=) Unknown - benign g.151511488G>T g.151814402G>T - - PRKAG2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115-27855C>A r.(=) p.(=) Unknown - VUS g.151511482G>T g.151814396G>T - - PRKAG2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.115-269G>C r.(=) p.(=) Unknown - benign g.151483896C>G g.151786810C>G - - PRKAG2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.115-25A>G r.(=) p.(=) Unknown - benign g.151483652T>C g.151786566T>C PRKAG2(NM_016203.3):c.115-25A>G - PRKAG2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.123C>T r.(?) p.(Ser41=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.123C>T r.(?) p.(Ser41=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.123C>T r.(?) p.(Ser41=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.123C>T r.(?) p.(Ser41=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123C>T r.(?) p.(Ser41=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130G>A r.(?) p.(Ala44Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.137C>T r.(?) p.(Pro46Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(Asp49=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.147C>T r.(?) p.(Asp49=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(Asp49=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>A r.(?) p.(Gly56Arg) Unknown - likely benign g.151483576C>T - PRKAG2(NM_016203.3):c.166G>A (p.G56R) - PRKAG2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.166G>A r.(?) p.(Gly56Arg) Unknown - VUS g.151483576C>T g.151786490C>T - - PRKAG2_000165 - PubMed: Walsh 2017 - - Germline - 1/2438 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.171G>A r.(?) p.(Lys57=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.186G>T r.(?) p.(Lys62Asn) Unknown - VUS g.151483556C>A g.151786470C>A - - PRKAG2_000191 - PubMed: Walsh 2017 - - Germline - 1/2438 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.186+111T>C r.(=) p.(=) Unknown - benign g.151483445A>G g.151786359A>G - - PRKAG2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.187-96G>A r.(=) p.(=) Unknown - benign g.151478613C>T g.151781527C>T - - PRKAG2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.187-85A>G r.(=) p.(=) Unknown - benign g.151478602T>C g.151781516T>C - - PRKAG2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.187-16G>A r.(=) p.(=) Unknown - benign g.151478533C>T g.151781447C>T PRKAG2(NM_016203.3):c.187-16G>A - PRKAG2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.196C>G r.(?) p.(Pro66Ala) Unknown - likely benign g.151478508G>C g.151781422G>C - - PRKAG2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207G>A r.(?) p.(Pro69=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.207G>A r.(?) p.(Pro69=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.207G>A r.(?) p.(Pro69=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207G>T r.(?) p.(Pro69=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.235A>G r.(?) p.(Arg79Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.240C>A r.(?) p.(Gly80=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>A r.(?) p.(Gly80=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.240C>A r.(?) p.(Gly80=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Gly80=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.245A>C r.(?) p.(Gln82Pro) Unknown - likely benign g.151478459T>G g.151781373T>G - - PRKAG2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247C>T r.(?) p.(Pro83Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.247C>T r.(?) p.(Pro83Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.247C>T r.(?) p.(Pro83Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247C>T r.(?) p.(Pro83Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.248C>T r.(?) p.(Pro83Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.250C>T r.(?) p.(Arg84Trp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.250C>T r.(?) p.(Arg84Trp) Unknown - likely benign g.151478454G>A - PRKAG2(NM_016203.3):c.250C>T (p.R84W) - PRKAG2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251G>C r.(?) p.(Arg84Pro) Unknown - VUS g.151478453C>G g.151781367C>G - - PRKAG2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.253C>T r.(?) p.(Pro85Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.253C>T r.(?) p.(Pro85Ser) Unknown - VUS g.151478451G>A - PRKAG2(NM_016203.3):c.253C>T (p.P85S) - PRKAG2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.270T>A r.(?) p.(Ser90=) Unknown - VUS g.151478434A>T g.151781348A>T - - PRKAG2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276T>A r.(?) p.(Pro92=) Unknown - likely benign g.151478428A>T g.151781342A>T - - PRKAG2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.298G>A r.(?) p.(Gly100Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.298G>A r.(?) p.(Gly100Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.298G>A r.(?) p.(Gly100Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.298G>A r.(?) p.(Gly100Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312C>T r.(?) p.(Thr104=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.320C>T r.(?) p.(Pro107Leu) Unknown - VUS g.151478384G>A g.151781298G>A - - PRKAG2_000004 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 190 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - 0 - - - 1 Ellika Sahlin
-?/. - c.325T>G r.(?) p.(Ser109Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341C>T r.(?) p.(Pro114Leu) Unknown - VUS g.151478363G>A g.151781277G>A - - PRKAG2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.346C>T r.(?) p.(Arg116Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347G>A r.(?) p.(Arg116His) Unknown - VUS g.151478357C>T - PRKAG2(NM_016203.3):c.347G>A (p.R116H) - PRKAG2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356G>A r.(?) p.(Arg119Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.382C>T r.(?) p.(Arg128Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.395A>G r.(?) p.(Lys132Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.418C>T r.(?) p.(Pro140Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.425C>T r.(?) p.(Thr142Ile) Unknown - VUS g.151478279G>A g.151781193G>A PRKAG2(NM_016203.3):c.425C>T (p.T142I) - PRKAG2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.425C>T r.(?) p.(Thr142Ile) Unknown - VUS g.151478279G>A g.151781193G>A - - PRKAG2_000040 - PubMed: Walsh 2017 - - Germline - 1/2438 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.425C>T r.(?) p.(Thr142Ile) Unknown - VUS g.151478279G>A g.151781193G>A - - PRKAG2_000040 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/191 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.428C>T r.(?) p.(Ser143Leu) Unknown - VUS g.151478276G>A g.151781190G>A - - PRKAG2_000190 - PubMed: Walsh 2017 - - Germline - 1/2438 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.431C>T r.(?) p.(Pro144Leu) Unknown - VUS g.151478273G>A g.151781187G>A - - PRKAG2_000189 - PubMed: Walsh 2017 - - Germline - 2/1535 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 2 Johan den Dunnen
+?/. - c.432dup r.(?) p.(Gly145ArgfsTer37) Unknown - likely pathogenic g.151478274dup g.151781188dup - - PRKAG2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433G>A r.(?) p.(Gly145Arg) Unknown - VUS g.151478271C>T - PRKAG2(NM_016203.3):c.433G>A (p.G145R) - PRKAG2_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.442A>G r.(?) p.(Arg148Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.454C>T r.(?) p.(Arg152Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.455G>A r.(?) p.(Arg152His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.455G>A r.(?) p.(Arg152His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.466+45150C>T r.(=) p.(=) Unknown - benign g.151433088G>A g.151736002G>A PRKAG2(NM_001304527.1):c.-9C>T - PRKAG2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.466+45165C>T r.(=) p.(=) Unknown - VUS g.151433073G>A - PRKAG2(NM_001304527.1):c.7C>T (p.R3C) - PRKAG2_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466+45240C>T r.(=) p.(=) Unknown - VUS g.151432998G>A - PRKAG2(NM_001304527.1):c.82C>T (p.H28Y) - PRKAG2_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.466+45241A>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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