Full data view for gene VRK1

Information The variants shown are described using the NM_003384.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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.-6+145T>C r.(=) p.(=) Unknown - benign g.97263929T>C - VRK1(NM_003384.3):c.-6+145T>C - VRK1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45A>G r.(?) p.(Ala15=) Unknown - benign g.97299853A>G g.96833516A>G VRK1(NM_003384.3):c.45A>G (p.A15=) - VRK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45A>G r.(?) p.(Ala15=) Unknown - benign g.97299853A>G g.96833516A>G VRK1(NM_003384.3):c.45A>G (p.A15=) - VRK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.161-145A>G r.(=) p.(=) Unknown - benign g.97303954A>G - VRK1(NM_003384.3):c.161-145A>G - VRK1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161-14A>G r.(=) p.(=) Unknown - likely benign g.97304085A>G g.96837748A>G VRK1(NM_003384.3):c.161-14A>G - VRK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.164A>G r.(?) p.(Asp55Gly) Unknown - VUS g.97304102A>G - VRK1(NM_003384.3):c.164A>G (p.D55G) - VRK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175T>G r.(?) p.(Ser59Ala) Unknown - likely benign g.97304113T>G g.96837776T>G VRK1(NM_003384.2):c.175T>G (p.S59A) - VRK1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.236C>T r.(?) p.(Pro79Leu) Both (homozygous) ACMG likely pathogenic g.97312451C>T g.96846114C>T - - VRK1_000018 ACMG PS4, PM2, PP1, PP2, PP3, PP4 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 11DG0443 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
-/. - c.286+141G>A r.(=) p.(=) Unknown - benign g.97312642G>A - VRK1(NM_003384.3):c.286+141G>A - VRK1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362A>G r.(?) p.(Lys121Arg) Unknown - VUS g.97313669A>G - VRK1(NM_003384.3):c.362A>G (p.K121R) - VRK1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375-8G>C r.(=) p.(=) Unknown - benign g.97319160G>C g.96852823G>C VRK1(NM_003384.2):c.375-8G>C (, p.(=)), VRK1(NM_003384.3):c.375-8G>C - VRK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375-8G>C r.(=) p.(=) Unknown - likely benign g.97319160G>C - VRK1(NM_003384.2):c.375-8G>C (, p.(=)), VRK1(NM_003384.3):c.375-8G>C - VRK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375-8G>C r.(=) p.(=) Unknown - likely benign g.97319160G>C - VRK1(NM_003384.2):c.375-8G>C (, p.(=)), VRK1(NM_003384.3):c.375-8G>C - VRK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375-8G>C r.(=) p.(=) Unknown - benign g.97319160G>C - VRK1(NM_003384.2):c.375-8G>C (, p.(=)), VRK1(NM_003384.3):c.375-8G>C - VRK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.451C>T r.(?) p.(Arg151Trp) Unknown - VUS g.97319244C>T - VRK1(NM_003384.3):c.451C>T (p.R151W) - VRK1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.463T>A r.(?) p.(Leu155Met) Unknown - VUS g.97319256T>A - VRK1(NM_003384.3):c.463T>A (p.L155M) - VRK1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466C>A r.(?) p.(Gln156Lys) Unknown - VUS g.97319259C>A g.96852922C>A VRK1(NM_003384.2):c.466C>A (p.Q156K) - VRK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.583T>G r.(?) p.(Leu195Val) Unknown - VUS g.97321567T>G - VRK1(NM_003384.3):c.583T>G (p.L195V) - VRK1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.583T>G r.(?) p.(Leu195Val) Unknown - pathogenic g.97321567T>G - VRK1(NM_003384.3):c.583T>G (p.L195V) - VRK1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.623G>A r.(?) p.(Gly208Glu) Unknown - VUS g.97321607G>A g.96855270G>A - - VRK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705C>T r.(?) p.(Gly235=) Unknown - benign g.97321689C>T g.96855352C>T VRK1(NM_003384.3):c.705C>T (p.G235=) - VRK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705C>T r.(?) p.(Gly235=) Unknown - benign g.97321689C>T g.96855352C>T VRK1(NM_003384.3):c.705C>T (p.G235=) - VRK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.726T>C r.(?) p.(Gly242=) Unknown - likely benign g.97322483T>C g.96856146T>C VRK1(NM_003384.2):c.726T>C (p.G242=) - VRK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810T>C r.(?) p.(Tyr270=) Unknown - likely benign g.97322567T>C - VRK1(NM_003384.3):c.810T>C (p.Y270=) - VRK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830+3A>G r.spl? p.? Unknown - VUS g.97322590A>G - VRK1(NM_003384.2):c.830+3A>G (p.?) - VRK1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832T>C r.(?) p.(Tyr278His) Unknown - VUS g.97322866T>C g.96856529T>C VRK1(NM_003384.2):c.832T>C (p.Y278H) - VRK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.858G>T r.(?) p.(Met286Ile) Unknown - VUS g.97322892G>T g.96856555G>T VRK1(NM_003384.2):c.858G>T (p.M286I), VRK1(NM_003384.3):c.858G>T (p.M286I) - VRK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.858G>T r.(?) p.(Met286Ile) Unknown - VUS g.97322892G>T g.96856555G>T VRK1(NM_003384.2):c.858G>T (p.M286I), VRK1(NM_003384.3):c.858G>T (p.M286I) - VRK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.858G>T r.(?) p.(Met286Ile) Parent #1 - VUS g.97322892G>T g.96856555G>T - - VRK1_000012 4 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139476915 Germline - 4/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.858G>T r.(?) p.(Met286Ile) Both (homozygous) - VUS g.97322892G>T g.96856555G>T - - VRK1_000012 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139476915 Germline - 3/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.882C>G r.(?) p.(Asn294Lys) Unknown - VUS g.97322916C>G g.96856579C>G VRK1(NM_003384.3):c.882C>G (p.N294K) - VRK1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901A>G r.(?) p.(Lys301Glu) Unknown - VUS g.97326905A>G - VRK1(NM_003384.3):c.901A>G (p.K301E) - VRK1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.906C>T r.(?) p.(Tyr302=) Unknown - likely benign g.97326910C>T - VRK1(NM_003384.2):c.906C>T (p.Y302=), VRK1(NM_003384.3):c.906C>T (p.Y302=) - VRK1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.906C>T r.(?) p.(Tyr302=) Unknown - likely benign g.97326910C>T - VRK1(NM_003384.2):c.906C>T (p.Y302=), VRK1(NM_003384.3):c.906C>T (p.Y302=) - VRK1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.932A>G r.(?) p.(Tyr311Cys) Unknown - VUS g.97326936A>G g.96860599A>G VRK1(NM_003384.2):c.932A>G (p.Y311C) - VRK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1020C>T r.(?) p.(Asp340=) Unknown - likely benign g.97327024C>T - VRK1(NM_003384.2):c.1020C>T (p.D340=), VRK1(NM_003384.3):c.1020C>T (p.D340=) - VRK1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1020C>T r.(?) p.(Asp340=) Unknown - likely benign g.97327024C>T - VRK1(NM_003384.2):c.1020C>T (p.D340=), VRK1(NM_003384.3):c.1020C>T (p.D340=) - VRK1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1069-111C>T r.(=) p.(=) Unknown - likely benign g.97342256C>T - VRK1(NM_003384.3):c.1069-111C>T - VRK1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1072C>T r.(?) p.(Arg358*) Both (homozygous) ACMG pathogenic g.97342370C>T g.96876033C>T - - VRK1_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - PCH1A - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.1072C>T r.(?) p.(Arg358Ter) Both (homozygous) - likely pathogenic g.97342370C>T g.96876033C>T - - VRK1_000001 - PubMed: Srivastava 2014 - - Germline - - - - - DNA SEQ-NG - WES ? Pat74 PubMed: Srivastava 2014 - - - United States - - - - - 1 Johan den Dunnen
+?/. 12i c.1159+1G>A r.spl p.? Both (homozygous) - likely pathogenic g.97342458G>A g.96876121G>A - - VRK1_000019 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-569 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
Legend   How to query