Full data view for gene VARS2

Information The variants shown are described using the NM_020442.4 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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.-4340C>T r.(?) p.(=) Unknown - VUS g.30877809C>T g.30910032C>T GTF2H4(NM_001517.4):c.343C>T (p.(Arg115Cys)) - GTF2H4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2280C>T r.(?) p.(=) Unknown - VUS g.30879869C>T - GTF2H4(NM_001517.5):c.904C>T (p.(His302Tyr)) - GTF2H4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-150C>G r.(?) p.(=) Unknown - VUS g.30881999C>G - - - chr6_008369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76C>T r.(?) p.(His26Tyr) Both (homozygous) - benign g.30882689C>T g.30914912C>T - - VARS2_000027 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6926224 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.190G>A r.(?) p.(Gly64Arg) Parent #1 - benign g.30882803G>A g.30915026G>A - - VARS2_000024 190 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6926723 Germline - 190/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 190 Mohammed Faruq
-/. - c.190G>A r.(?) p.(Gly64Arg) Both (homozygous) - benign g.30882803G>A g.30915026G>A - - VARS2_000024 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6926723 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.259C>T r.(?) p.(Pro87Ser) Unknown - VUS g.30882990C>T g.30915213C>T VARS2(NM_001167733.1):c.-162C>T (p.(=)) - VARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.263C>T r.(?) p.(Thr88Met) Unknown - VUS g.30882994C>T g.30915217C>T VARS2(NM_001167733.1):c.-158C>T (p.(=)) - GTF2H4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.283+3A>G r.spl? p.? Unknown - likely benign g.30883017A>G - VARS2(NM_001167734.1):c.373+3A>G, VARS2(NM_020442.4):c.283+3A>G (p.?) - GTF2H4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.283+3A>G r.spl? p.? Unknown - likely benign g.30883017A>G - VARS2(NM_001167734.1):c.373+3A>G, VARS2(NM_020442.4):c.283+3A>G (p.?) - GTF2H4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547T>G r.(?) p.(Ser183Ala) Unknown - VUS g.30883798T>G g.30916021T>G VARS2(NM_001167733.1):c.127T>G (p.(Ser43Ala)) - VARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.801G>A r.(?) p.(=) Unknown - VUS g.30884929G>A - VARS2(NM_020442.6):c.801G>A (p.(Ala267=)) - GTF2H4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.876G>A r.(?) p.(Val292=) Unknown - likely benign g.30885474G>A g.30917697G>A VARS2(NM_001167733.1):c.456G>A (p.(=)) - GTF2H4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.889_890insACACAGCTTCGACTGGCTGTG r.(?) p.(Leu297delinsHisThrAlaSerThrGlyCysVal) Unknown - VUS g.30885487_30885488insACACAGCTTCGACTGGCTGTG - VARS2(NM_020442.6):c.889_890insACACAGCTTCGACTGGCTGTG (p.(Leu297delinsHisThrAlaSerThrGlyCysVal)) - GTF2H4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1010C>T r.(?) p.(Thr337Ile) Both (homozygous) - pathogenic g.30886628C>T g.30918851C>T 1100C>T (T367I) - VARS2_000001 - PubMed: Diodato 2014 - - Germline yes - - - - DNA SEQ-NG - - ? 24827421-P1 PubMed: Diodato 2014 - M ? Italy - - - - - 1 Daniele Ghezzi
+/. 11 c.1010C>T r.(?) p.(Thr337Ile) Unknown - pathogenic g.30886628C>T g.30918851C>T NM_020442.5:c.1010C>T - VARS2_000001 - - - rs587777585 Germline - - - - - DNA SEQ-NG - - encephalomyopathy, mitochondrial - - - F no Italy - - - - - 1 Daniele Ghezzi
+/. - c.1010C>T r.(?) p.(Thr337Ile) Unknown - pathogenic (recessive) g.30886628C>T g.30918851C>T NM_001167734.1:c.1100C>T - VARS2_000001 - PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat97 PubMed: Pronicka 2016 2-generation family, affected sibs with similar symptoms M - Poland - - - - - 1 Johan den Dunnen
+?/. - c.1010C>T r.(?) p.(Thr337Ile) Unknown - likely pathogenic g.30886628C>T - - - VARS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1045G>A r.(?) p.(Ala349Thr) Parent #1 - likely pathogenic g.30886663G>A g.30918886G>A - - VARS2_000004 - PubMed: Taylor 2014, OMIM:var0001 - rs587777583 Germline - - - - - DNA SEQ-NG - WES COXPD 25058219-Pat29 PubMed: Taylor 2014 family, 2 affecteds M - United Kingdom (Great Britain) - 10y - - - 2 Johan den Dunnen
+?/. - c.1045G>A r.(?) p.(Ala349Thr) Parent #1 - likely pathogenic (recessive) g.30886663G>A g.30918886G>A NM_001167734.1:c.1135G>A - VARS2_000004 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat29 PubMed: Taylor 2014 2 affected M - United Kingdom (Great Britain) British - - - - 2 Johan den Dunnen
+?/. - c.1048G>A r.(?) p.(Val350Ile) Unknown - likely pathogenic g.30886666G>A g.30918889G>A - - GTF2H4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1060G>A r.(?) p.(Asp354Asn) Unknown - likely pathogenic g.30886678G>A g.30918901G>A NM_020442.5:c.1060G>A - VARS2_000002 - - - rs753490759 Germline - - - - - DNA SEQ-NG - - encephalomyopathy, mitochondrial - - - F no Italy - - - - - 1 Daniele Ghezzi
?/. - c.1066C>T r.(?) p.(Arg356Ter) Unknown - VUS g.30886684C>T g.30918907C>T VARS2(NM_001167733.1):c.646C>T (p.(Arg216Ter)) - GTF2H4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1168G>A r.(?) p.(Ala390Thr) Unknown - pathogenic g.30887868G>A g.30920091G>A VARS2(NM_001167733.1):c.748G>A (p.(Ala250Thr)) - VARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1168G>A r.(?) p.(Ala390Thr) Unknown - likely pathogenic g.30887868G>A - VARS2(NM_001167733.1):c.748G>A (p.(Ala250Thr)) - VARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1315C>T r.(?) p.(Arg439Trp) Unknown - VUS g.30888131C>T g.30920354C>T - - VARS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1345T>C r.(?) p.(Trp449Arg) Unknown - benign g.30888161T>C - - - VARS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1346G>A r.(?) p.(Trp449Ter) Unknown - VUS g.30888162G>A g.30920385G>A VARS2(NM_001167733.1):c.926G>A (p.(Trp309Ter)) - VARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1400G>A r.(?) p.(Arg467His) Unknown - pathogenic (recessive) g.30888447G>A g.30920670G>A NM_001167734.1:c.1490G>A - VARS2_000023 - PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat97 PubMed: Pronicka 2016 2-generation family, affected sibs with similar symptoms M - Poland - - - - - 1 Johan den Dunnen
+?/. 15 c.1456G>T r.(?) p.(Glu486*) Unknown - likely pathogenic g.30888503G>T g.30920726G>T - - VARS2_000005 - - - rs143821815 Germline yes - - - - DNA SEQ-NG - - MC4DN - - - M - - - - - - - 1 Daniele Ghezzi
-?/. - c.1670C>A r.(?) p.(Ala557Asp) Unknown - likely benign g.30889403C>A g.30921626C>A VARS2(NM_001167733.1):c.1250C>A (p.(Ala417Asp)) - VARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1691C>T r.(?) p.(Ala564Val) Both (homozygous) - likely pathogenic g.30889424C>T g.30921647C>T c.1691C>T, p.(Ala564Val) - VARS2_000030 homozygous PubMed: Abu Diab 2019 - - Germline yes - - - - DNA SEQ-NG, arraySNP, SEQ blood whole exome sequencing, SNP array homozygosity mapping retinal disease SJ002 II:1 PubMed: Abu Diab 2019 - M yes Israel Palestinian - - - - 1 LOVD
+?/. - c.1691C>T r.(?) p.(Ala564Val) Both (homozygous) - likely pathogenic g.30889424C>T g.30921647C>T c.1691C>T, p.(Ala564Val) - VARS2_000030 homozygous PubMed: Abu Diab 2019 - - Germline yes - - - - DNA SEQ-NG, arraySNP, SEQ blood whole exome sequencing, SNP array homozygosity mapping retinal disease SJ002 II:2 PubMed: Abu Diab 2019 - M yes Israel Palestinian - - - - 1 LOVD
?/. - c.1700C>T r.(?) p.(Thr567Ile) Unknown - VUS g.30889433C>T g.30921656C>T VARS2(NM_001167733.1):c.1280C>T (p.(Thr427Ile)) - VARS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 19 c.1787C>A r.(?) p.(Ala596Asp) Parent #2 - likely pathogenic g.30889753C>A g.30921976C>A - - VARS2_000003 - PubMed: Taylor 2014, OMIM:var0001 - rs587777584 Germline - - - - - DNA SEQ-NG - WES COXPD 25058219-Pat29 PubMed: Taylor 2014 family, 2 affecteds M - United Kingdom (Great Britain) - 10y - - - 2 Johan den Dunnen
+?/. - c.1787C>A r.(?) p.(Ala596Asp) Parent #2 - likely pathogenic (recessive) g.30889753C>A g.30921976C>A NM_001167734.1:c.1877C>A - VARS2_000003 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat29 PubMed: Taylor 2014 2 affected M - United Kingdom (Great Britain) British - - - - 2 Johan den Dunnen
?/. - c.1865T>C r.(?) p.(Leu622Pro) Unknown - VUS g.30889951T>C g.30922174T>C - - VARS2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1882C>T r.(?) p.(Arg628Cys) Unknown - VUS g.30889968C>T g.30922191C>T VARS2(NM_001167733.1):c.1462C>T (p.(Arg488Cys)) - VARS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1882C>T r.(?) p.(Arg628Cys) Unknown - VUS g.30889968C>T - VARS2(NM_001167733.1):c.1462C>T (p.(Arg488Cys)) - VARS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1883G>A r.(?) p.(Arg628His) Unknown - likely pathogenic g.30889969G>A g.30922192G>A VARS2(NM_001167734.1):c.1973G>A (p.(Arg658His)) - VARS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2090T>C r.(?) p.(Ile697Thr) Unknown - likely benign g.30890535T>C g.30922758T>C VARS2(NM_001167733.1):c.1670T>C (p.(Ile557Thr)) - VARS2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 23 c.2149G>A r.(?) p.(Ala717Thr) Unknown - likely pathogenic g.30890717G>A g.30922940G>A - - VARS2_000006 - - - rs772718755 Germline yes - - - - DNA SEQ-NG - - MC4DN - - - M - - - - - - - 1 Daniele Ghezzi
-/. - c.2412C>T r.(=) p.(=) Parent #1 - benign g.30891228C>T g.30923451C>T - - VARS2_000025 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17189635 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.2551C>T r.(?) p.(Arg851Cys) Both (homozygous) - VUS g.30892215C>T g.30924438C>T - - VARS2_000028 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138855624 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.2684G>A r.(?) p.(Arg895His) Unknown - VUS g.30893061G>A g.30925284G>A VARS2(NM_001167733.1):c.2264G>A (p.(Arg755His)) - VARS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3005G>A r.(?) p.(Arg1002Gln) Unknown - VUS g.30893700G>A g.30925923G>A VARS2(NM_001167733.1):c.2585G>A (p.(Arg862Gln)) - VARS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3033C>G r.(?) p.(Asp1011Glu) Unknown - VUS g.30893728C>G g.30925951C>G 3123C>G - VARS2_000029 - PubMed: Duvvari 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat7AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
?/. - c.3033C>G r.(?) p.(Asp1011Glu) Unknown - VUS g.30893728C>G g.30925951C>G 3123C>G - VARS2_000029 - PubMed: Duvvari 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat9AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
?/. - c.3033C>G r.(?) p.(Asp1011Glu) Unknown - VUS g.30893728C>G g.30925951C>G 3123C>G - VARS2_000029 - PubMed: Duvvari 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat10AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
-/. - c.3033C>T r.(?) p.(Asp1011=) Unknown - benign g.30893728C>T g.30925951C>T - - VARS2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3068C>T r.(?) p.(Ala1023Val) Unknown - VUS g.30893763C>T - VARS2(NM_020442.6):c.3068C>T (p.(Ala1023Val)) - chr6_008370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3166C>T r.(?) p.(Pro1056Ser) Unknown - likely pathogenic g.30893961C>T g.30926184C>T - - VARS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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