Full data view for gene ARVCF

Information The variants shown are described using the NM_001670.2 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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.-1826523_*1118992dup r.? p.? Unknown - pathogenic (recessive) g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1460080_*935116del r.0? p.0? Unknown - pathogenic (recessive) g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1460080_*1064716del r.0? p.0? Unknown - pathogenic (recessive) g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1460080_*1069240del r.0? p.0? Unknown - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.-19+1723T>C r.(=) p.(=) Both (homozygous) - VUS g.19996255A>G g.20008732A>G - - ARVCF_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.40G>C r.(?) p.(Ala14Pro) Unknown - VUS g.19978278C>G g.19990755C>G ARVCF(NM_001670.2):c.40G>C (p.(Ala14Pro)) - ARVCF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.210+3525T>C r.(=) p.(=) Unknown - benign g.19974583A>G g.19987060A>G ARVCF(NM_001670.3):c.210+3525T>C - ARVCF_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448G>A r.(?) p.(Asp150Asn) Unknown - likely benign g.19969182C>T g.19981659C>T ARVCF(NM_001670.3):c.448G>A (p.D150N) - ARVCF_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494G>A r.(?) p.(Arg165Gln) Unknown - VUS g.19969136C>T g.19981613C>T ARVCF(NM_001670.2):c.494G>A (p.(Arg165Gln)) - ARVCF_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.524T>C r.(?) p.(Val175Ala) Unknown - benign g.19969106A>G g.19981583A>G ARVCF(NM_001670.3):c.524T>C (p.V175A) - ARVCF_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.555T>C r.(?) p.(Ser185=) Unknown - benign g.19969075A>G g.19981552A>G ARVCF(NM_001670.3):c.555T>C (p.S185=) - ARVCF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Ser200=) Unknown - likely benign g.19969030G>A - ARVCF(NM_001670.2):c.600C>T (p.S200=) - ARVCF_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.659C>T r.(?) p.(Pro220Leu) Unknown - benign g.19968971G>A g.19981448G>A ARVCF(NM_001670.3):c.659C>T (p.P220L) - ARVCF_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1822C>T r.(?) p.(Arg608Cys) Unknown - VUS g.19964986G>A g.19977463G>A ARVCF(NM_001670.2):c.1822C>T (p.(Arg608Cys)) - ARVCF_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1889-8C>G r.(=) p.(=) Unknown - likely benign g.19963288G>C g.19975765G>C ARVCF(NM_001670.2):c.1889-8C>G (p.(=)) - ARVCF_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2275C>T r.(?) p.(Arg759Cys) Unknown - VUS g.19960805G>A g.19973282G>A ARVCF(NM_001670.2):c.2275C>T (p.(Arg759Cys)) - ARVCF_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2456C>G r.(?) p.(Ala819Gly) Unknown - VUS g.19960542G>C - ARVCF(NM_001670.2):c.2456C>G (p.A819G) - ARVCF_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2657G>T r.(?) p.(Gly886Val) Unknown - VUS g.19959919C>A g.19972396C>A ARVCF(NM_001670.3):c.2657G>T (p.G886V) - ARVCF_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2717G>A r.(?) p.(Arg906Gln) Unknown - benign g.19959473C>T g.19971950C>T ARVCF(NM_001670.3):c.2717G>A (p.R906Q) - ARVCF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2016dup r.(?) p.(=) Unknown - benign g.19956269dup g.19968746dup COMT(NM_000754.3):c.*10dupC, COMT(NM_000754.4):c.*10dupC - ARVCF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2016dup r.(?) p.(=) Unknown - benign g.19956269dup g.19968746dup COMT(NM_000754.3):c.*10dupC, COMT(NM_000754.4):c.*10dupC - ARVCF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2204C>T r.(=) p.(=) Unknown - VUS g.19956075G>A - COMT(NM_000754.4):c.632G>A (p.R211Q) - ARVCF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2207A>G r.(=) p.(=) Unknown - VUS g.19956072T>C g.19968549T>C COMT(NM_000754.3):c.629T>C (p.L210P) - ARVCF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6475C>T r.(=) p.(=) Unknown - benign g.19951804G>A g.19964281G>A COMT(NM_000754.3):c.597G>A (p.P199=) - COMT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6537T>A r.(=) p.(=) Unknown - VUS g.19951742A>T g.19964219A>T COMT(NM_000754.3):c.535A>T (p.K179*), COMT(NM_001362828.2):c.535A>T (p.K179*) - COMT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6537T>A r.(=) p.(=) Unknown - VUS g.19951742A>T g.19964219A>T COMT(NM_000754.3):c.535A>T (p.K179*), COMT(NM_001362828.2):c.535A>T (p.K179*) - COMT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7008C>T r.(=) p.(=) Unknown - benign g.19951271G>A g.19963748G>A COMT(NM_000754.3):c.472G>A (p.V158M), COMT(NM_000754.4):c.472G>A (p.V158M) - COMT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7008C>T r.(=) p.(=) Unknown - benign g.19951271G>A g.19963748G>A COMT(NM_000754.3):c.472G>A (p.V158M), COMT(NM_000754.4):c.472G>A (p.V158M) - COMT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7008C>T r.(=) p.(=) Unknown - benign g.19951271G>A g.19963748G>A COMT(NM_000754.3):c.472G>A (p.V158M), COMT(NM_000754.4):c.472G>A (p.V158M) - COMT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7008C>T r.(=) p.(=) Unknown - benign g.19951271G>A g.19963748G>A COMT(NM_000754.3):c.472G>A (p.V158M), COMT(NM_000754.4):c.472G>A (p.V158M) - COMT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7072G>C r.(=) p.(=) Unknown - benign g.19951207C>G g.19963684C>G COMT(NM_000754.3):c.408C>G (p.L136=), COMT(NM_000754.4):c.408C>G (p.L136=) - COMT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7072G>C r.(=) p.(=) Unknown - benign g.19951207C>G g.19963684C>G COMT(NM_000754.3):c.408C>G (p.L136=), COMT(NM_000754.4):c.408C>G (p.L136=) - COMT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7072G>C r.(=) p.(=) Unknown - benign g.19951207C>G g.19963684C>G COMT(NM_000754.3):c.408C>G (p.L136=), COMT(NM_000754.4):c.408C>G (p.L136=) - COMT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7072G>C r.(=) p.(=) Unknown - benign g.19951207C>G g.19963684C>G COMT(NM_000754.3):c.408C>G (p.L136=), COMT(NM_000754.4):c.408C>G (p.L136=) - COMT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7176C>T r.(=) p.(=) Unknown - likely benign g.19951103G>A - COMT(NM_000754.3):c.304G>A (p.A102T) - ARVCF_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7210G>C r.(=) p.(=) Unknown - likely benign g.19951069C>G g.19963546C>G - - ARVCF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8044G>A r.(=) p.(=) Unknown - benign g.19950235C>T g.19962712C>T COMT(NM_000754.3):c.186C>T (p.H62=), COMT(NM_000754.4):c.186C>T (p.H62=) - COMT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8044G>A r.(=) p.(=) Unknown - benign g.19950235C>T g.19962712C>T COMT(NM_000754.3):c.186C>T (p.H62=), COMT(NM_000754.4):c.186C>T (p.H62=) - COMT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8044G>A r.(=) p.(=) Unknown - benign g.19950235C>T g.19962712C>T COMT(NM_000754.3):c.186C>T (p.H62=), COMT(NM_000754.4):c.186C>T (p.H62=) - COMT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8044G>A r.(=) p.(=) Unknown - benign g.19950235C>T g.19962712C>T COMT(NM_000754.3):c.186C>T (p.H62=), COMT(NM_000754.4):c.186C>T (p.H62=) - COMT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8234A>T r.(=) p.(=) Unknown - VUS g.19950045T>A - COMT(NM_001362828.2):c.-5T>A - ARVCF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8239G>A r.(=) p.(=) Unknown - likely benign g.19950040C>T g.19962517C>T COMT(NM_000754.3):c.1-10C>T - COMT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*26340A>G r.(=) p.(=) Unknown - likely benign g.19931939T>C - COMT(NM_000754.4):c.-92+2519T>C - ARVCF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29011A>G r.(=) p.(=) Unknown - likely benign g.19929268T>C g.19941745T>C TXNRD2(NM_001282512.2):c.59A>G (p.Q20R) - ARVCF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29016G>A r.(=) p.(=) Unknown - likely benign g.19929263C>T g.19941740C>T TXNRD2(NM_001282512.3):c.64G>A (p.V22M), TXNRD2(NM_006440.3):c.64G>A (p.V22M), TXNRD2(NM_006440.5):c.64G>A (p.V22M) - COMT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29016G>A r.(=) p.(=) Unknown - likely benign g.19929263C>T g.19941740C>T TXNRD2(NM_001282512.3):c.64G>A (p.V22M), TXNRD2(NM_006440.3):c.64G>A (p.V22M), TXNRD2(NM_006440.5):c.64G>A (p.V22M) - COMT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29016G>A r.(=) p.(=) Unknown - likely benign g.19929263C>T g.19941740C>T TXNRD2(NM_001282512.3):c.64G>A (p.V22M), TXNRD2(NM_006440.3):c.64G>A (p.V22M), TXNRD2(NM_006440.5):c.64G>A (p.V22M) - COMT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29016G>T r.(=) p.(=) Unknown - likely benign g.19929263C>A - TXNRD2(NM_006440.3):c.64G>T (p.V22L) - ARVCF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*29022_*29028dup r.(=) p.(=) Unknown - VUS g.19929252_19929258dup - TXNRD2(NM_006440.5):c.70_76dupGGCGGGG (p.V26Gfs*18) - ARVCF_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29029T>G r.(=) p.(=) Unknown - likely benign g.19929250A>C g.19941727A>C TXNRD2(NM_001282512.3):c.77T>G (p.V26G) - TXNRD2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29072dup r.(?) p.(=) Unknown - likely benign g.19929210dup g.19941687dup TXNRD2(NM_006440.5):c.103+17dupG - TXNRD2_000046 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.