Full data view for gene PRKG2

Information The variants shown are described using the NM_006259.1 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
Legend   How to query  

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.68C>G r.(?) p.(Thr23Ser) Unknown - likely benign g.82126134G>C g.81204980G>C PRKG2(NM_006259.1):c.68C>G (p.(Thr23Ser)) - PRKG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.176C>A r.(?) p.(Ser59Ter) Unknown - likely pathogenic g.82126026G>T g.81204872G>T PRKG2(NM_006259.1):c.176C>A (p.(Ser59Ter)) - PRKG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.491dup r.(?) p.(Asn164Lysfs*2) Both (homozygous) - pathogenic (recessive) g.82096085dup g.81174931dup - - PRKG2_000011 - PubMed: Díaz-Gonzalez 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - AMD Pat2 PubMed: Díaz-Gonzalez 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - 1 Johan den Dunnen
?/. - c.540G>A r.(?) p.(Met180Ile) Unknown - VUS g.82096035C>T g.81174881C>T PRKG2(NM_001282485.1):c.540G>A (p.(Met180Ile)) - PRKG2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617T>G r.(?) p.(Phe206Cys) Unknown - VUS g.82095958A>C - PRKG2(NM_001282485.1):c.617T>G (p.(Phe206Cys)) - PRKG2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.628+6T>C r.(=) p.(=) Unknown - likely benign g.82095941A>G g.81174787A>G PRKG2(NM_006259.1):c.628+6T>C (p.(=)) - PRKG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.776G>A r.(?) p.(Arg259Gln) Unknown - VUS g.82090889C>T - PRKG2(NM_006259.3):c.776G>A (p.(Arg259Gln)) - PRKG2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.990+218G>T r.(=) p.(=) Unknown - likely benign g.82074580C>A - PRKG2(NM_001282480.1):c.-271+4G>T - PRKG2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1254G>A r.(?) p.(=) Unknown - VUS g.82064101C>T - PRKG2(NM_006259.3):c.1254G>A (p.(Lys418=)) - PRKG2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1639A>G r.(?) p.(Ser547Gly) Unknown - likely benign g.82056446T>C g.81135292T>C PRKG2(NM_006259.1):c.1639A>G (p.(Ser547Gly)) - PRKG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1705C>T r.(?) p.(Arg569*) Both (homozygous) - pathogenic (recessive) g.82056380G>A - - - PRKG2_000010 - PubMed: Díaz-Gonzalez 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - AMD Pat1 PubMed: Díaz-Gonzalez 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.1705C>T r.(?) p.(Arg569Ter) Both (homozygous) - pathogenic (recessive) g.82056380G>A g.81135226G>A - - PRKG2_000010 - PubMed: Pagnamenta 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PSACH Fam2PatV3 PubMed: Pagnamenta 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iran - - - - - 1 Johan den Dunnen
-?/. - c.1941-8C>T r.(=) p.(=) Unknown - likely benign g.82027097G>A - PRKG2(NM_006259.1):c.1941-8C>T (p.(=)) - PRKG2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1947del r.(?) p.(Ser651LeufsTer6) Unknown - likely pathogenic g.82027085del - PRKG2(NM_006259.1):c.1947del (p.(Ser651Leufs*6)) - PRKG2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2030G>A r.(?) p.(Arg677Gln) Unknown - VUS g.82027000C>T - PRKG2(NM_006259.1):c.2030G>A (p.(Arg677Gln)) - PRKG2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2115_2126+6del r.(?) p.(Asn703_Arg709delinsLys) Unknown - VUS g.82025522_82025539del - PRKG2(NM_001282480.1):c.855_866+6del (p.?) - PRKG2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2127-21_2127-14del r.(=) p.(=) Unknown - benign g.82013660_82013667del g.81092506_81092513del PRKG2(NM_006259.2):c.2127-21_2127-14delCCTTCCTT - PRKG2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2127-10C>A r.(=) p.(=) Unknown - likely benign g.82013616G>T - PRKG2(NM_006259.3):c.2127-10C>A - PRKG2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2193+3A>G r.spl? p.? Unknown - VUS g.82013537T>C - PRKG2(NM_006259.3):c.2193+3A>G - PRKG2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2282dup r.(?) p.(Asp761GlufsTer34) Both (homozygous) - pathogenic (recessive) g.82010869dup g.81089715dup 2282dupA - PRKG2_000012 - PubMed: Pagnamenta 2022 - - Germline yes - - - - DNA SEQ - WES SMD Fam1PatIV3 PubMed: Pagnamenta 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes Pakistan - - - - - 3 Johan den Dunnen
+/. - c.2282dup r.(?) p.(Asp761GlufsTer34) Both (homozygous) - pathogenic (recessive) g.82010869dup g.81089715dup 2283dupA - PRKG2_000012 - PubMed: Pagnamenta 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS OI, SMD Fam1PatIV6 PubMed: Pagnamenta 2022 brother M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2282dup r.(?) p.(Asp761GlufsTer34) Both (homozygous) - pathogenic (recessive) g.82010869dup g.81089715dup 2284dupA - PRKG2_000012 - PubMed: Pagnamenta 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS SMD Fam1PatIV7 PubMed: Pagnamenta 2022 brother M yes Pakistan - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.