Full data view for gene VPS4A

Information The variants shown are described using the NM_013245.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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.83C>T r.(?) p.(Ala28Val) Both (homozygous) - pathogenic (recessive) g.69349972C>T g.69316069C>T - - VPS4A_000005 - PubMed: Seu 2020, Journal: Seu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Seu 2020, Journal: Seu 2020 - F - - Arab - - - - 1 Johan den Dunnen
?/. - c.502C>T r.(?) p.(Pro168Ser) Unknown - VUS g.69353328C>T g.69319425C>T - - VPS4A_000007 - PubMed: Rodger 2020, Journal: Rodger 2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - ? Fam PubMed: Rodger 2020, Journal: Rodger 2020 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.582_584del r.(?) p.(Ser195del) Unknown - pathogenic (dominant) g.69353408_69353410del g.69319505_69319507del - - VPS4A_000003 - PubMed: Hamdan 2015 - - De novo - - - - - DNA SEQ-NG - WES ID 985.382 PubMed: Hamdan 2015 - M - Canada - - - - - 1 Johan den Dunnen
?/. - c.608G>A r.(?) p.(Gly203Glu) Unknown - VUS g.69353434G>A g.69319531G>A VPS4A(NM_013245.2):c.608G>A (p.(Gly203Glu)) - VPS4A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.608G>A r.(?) p.(Gly203Glu) Unknown - pathogenic (dominant) g.69353434G>A g.69319531G>A - - VPS4A_000001 - PubMed: Seu 2020, Journal: Seu 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Seu 2020, Journal: Seu 2020 - M - United States European;Hispanic-American - - - - 1 Johan den Dunnen
+/. - c.616G>A r.(?) p.(Glu206Lys) Unknown - pathogenic (dominant) g.69353442G>A g.69319539G>A - - VPS4A_000006 - PubMed: Rodger 2020, Journal: Rodger 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat6 PubMed: Rodger 2020, Journal: Rodger 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. - c.698G>T r.(?) p.(Cys233Phe) Unknown - VUS g.69354121G>T - VPS4A(NM_013245.3):c.698G>T (p.C233F) - VPS4A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.769+1G>A r.spl? p.? Unknown - VUS g.69354193G>A - - - VPS4A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.850A>G r.(?) p.(Arg284Gly) Unknown - pathogenic (dominant) g.69354671A>G g.69320768A>G - - VPS4A_000008 - PubMed: Rodger 2020, Journal: Rodger 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat2 PubMed: Rodger 2020, Journal: Rodger 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Italy white 29y - - - 1 Johan den Dunnen
+/. - c.850A>T r.(?) p.(Arg284Trp) Unknown - pathogenic (dominant) g.69354671A>T g.69320768A>T - - VPS4A_000004 - PubMed: Seu 2020, Journal: Seu 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Seu 2020, Journal: Seu 2020 - F - United States European;Hispanic-American - - - - 1 Johan den Dunnen
+/. - c.850A>T r.(?) p.(Arg284Trp) Unknown - pathogenic (dominant) g.69354671A>T g.69320768A>T - - VPS4A_000004 - PubMed: Rodger 2020, Journal: Rodger 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat1 PubMed: Rodger 2020, Journal: Rodger 2020 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.850A>T r.(?) p.(Arg284Trp) Unknown - pathogenic (dominant) g.69354671A>T g.69320768A>T - - VPS4A_000004 - PubMed: Rodger 2020, Journal: Rodger 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat3 PubMed: Rodger 2020, Journal: Rodger 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) white 26m - - - 1 Johan den Dunnen
+/. - c.850A>T r.(?) p.(Arg284Trp) Unknown - pathogenic (dominant) g.69354671A>T g.69320768A>T - - VPS4A_000004 - PubMed: Rodger 2020, Journal: Rodger 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat4 PubMed: Rodger 2020, Journal: Rodger 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - 1 Johan den Dunnen
+/. - c.850A>T r.(?) p.(Arg284Trp) Unknown - pathogenic (dominant) g.69354671A>T g.69320768A>T - - VPS4A_000004 - PubMed: Rodger 2020, Journal: Rodger 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat5 PubMed: Rodger 2020, Journal: Rodger 2020 2-generation family, 1 affected, unaffected non-carrier parents F - United States white - - - - 1 Johan den Dunnen
?/. - c.881C>T r.(?) p.(Pro294Leu) Unknown - VUS g.69354983C>T g.69321080C>T VPS4A(NM_013245.2):c.881C>T (p.(Pro294Leu)) - VPS4A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1009A>G r.(?) p.(Ile337Val) Unknown - VUS g.69355111A>G g.69321208A>G - - VPS4A_000009 - PubMed: Rodger 2020, Journal: Rodger 2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - ? Fam PubMed: Rodger 2020, Journal: Rodger 2020 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.1009A>G r.(?) p.(Ile337Val) Unknown - VUS g.69355111A>G g.69321208A>G - - VPS4A_000009 - PubMed: Rodger 2020, Journal: Rodger 2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - ? Fam PubMed: Rodger 2020, Journal: Rodger 2020 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.1009A>G r.(?) p.(Ile337Val) Unknown - VUS g.69355111A>G g.69321208A>G - - VPS4A_000009 - PubMed: Rodger 2020, Journal: Rodger 2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - ? Fam PubMed: Rodger 2020, Journal: Rodger 2020 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.*4735T>C r.(=) p.(=) Unknown - likely benign g.69362947T>C g.69329044T>C PDF(NM_022341.1):c.710A>G (p.(Tyr237Cys)) - COG8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4762A>G r.(=) p.(=) Unknown - VUS g.69362974A>G - COG8(NM_032382.5):c.*135T>C - COG8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query