Full data view for gene CANT1

Information The variants shown are described using the NM_001159772.1 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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     

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Owner     
?/? 1i c.-286+1G>A r.spl p.? Both (homozygous) - VUS g.77005745C>T g.79009663C>T - - CANT1_000008 - - - - Unknown - - - - - DNA SEQ - - DBQD2 - - - - - - - - - - - 1 celine huber
-?/. 1i c.-286+53A>G r.(?) p.(=) Both (homozygous) - likely benign g.77005693T>C g.79009611T>C - - CANT1_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.56G>A r.(?) p.(Arg19Gln) Unknown - VUS g.76993649C>T - CANT1(NM_138793.3):c.56G>A (p.R19Q) - CANT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.100delinsTT r.(?) p.(Ala34Phefs*56) Paternal (confirmed) - VUS g.76993605delinsAA g.78997523delinsAA - - CANT1_000003 - - - - Unknown - - - - - DNA SEQ - - DBQD1 - - - - - - - - - - - 1 celine huber
?/? 4 c.100delinsTT r.(?) p.(Ala34Phefs*56) Maternal (confirmed) - VUS g.76993605delinsAA g.78997523delinsAA - - CANT1_000003 - - - - Unknown - - - - - DNA SEQ - - DBQD1 - - - - - - - - - - - 1 celine huber
-?/. - c.103G>A r.(?) p.(Ala35Thr) Unknown - likely benign g.76993602C>T g.78997520C>T CANT1(NM_138793.3):c.103G>A (p.A35T) - CANT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104C>T r.(?) p.(Ala35Val) Unknown - likely benign g.76993601G>A g.78997519G>A CANT1(NM_138793.3):c.104C>T (p.A35V) - CANT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159T>C r.(?) p.(Ala53=) Unknown - benign g.76993546A>G g.78997464A>G CANT1(NM_138793.4):c.159T>C (p.A53=) - CANT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188G>A r.(?) p.(Arg63His) Unknown - likely benign g.76993517C>T - CANT1(NM_138793.3):c.188G>A (p.R63H) - CANT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188G>C r.(?) p.(Arg63Pro) Unknown - likely benign g.76993517C>G - CANT1(NM_138793.3):c.188G>C (p.(Arg63Pro)) - CANT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199G>C r.(?) p.(Gly67Arg) Unknown - likely benign g.76993506C>G - CANT1(NM_138793.3):c.199G>C (p.(Gly67Arg)) - CANT1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.210dup r.(?) p.(Thr71Hisfs*19) Paternal (confirmed) ACMG likely pathogenic (recessive) g.76993500dup g.78997418dup - - CANT1_000032 ACMG: PVS1, PM2_SUP - - - Germline - - - - - DNA SEQ-NG-I - - DBQD1 211748 - prenatal trio-exom after ultrasound abnormalities ? no Germany - - - - - 1 Andreas Laner
?/. - c.262A>G r.(?) p.(Asn88Asp) Unknown - VUS g.76993443T>C g.78997361T>C CANT1(NM_138793.3):c.262A>G (p.N88D) - CANT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.277_278del r.(?) p.(Leu93Valfs*89) Paternal (confirmed) - VUS g.76993427_76993428del g.78997345_78997346del 277_278delCT - CANT1_000006 - - - - Unknown - - - - - DNA SEQ - - DBQD1 - - - - - - - - - - - 1 celine huber
+/. - c.277_278del r.(?) p.(Leu93Valfs*89) Unknown - pathogenic g.76993427_76993428del - CANT1(NM_001159772.1):c.277_278del (p.(Leu93Valfs*89)) - CANT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316C>T r.(?) p.(Arg106Ter) Unknown - pathogenic g.76993389G>A g.78997307G>A CANT1(NM_138793.3):c.316C>T (p.R106*) - CANT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.358del r.(?) p.(Gln120Lysfs*10) Maternal (confirmed) - VUS g.76993349del g.78997267del - - CANT1_000004 - - - - Unknown - - - - - DNA SEQ - - DBQD1 - - - - - - - - - - - 1 celine huber
+/. - c.375G>C r.(?) p.(Trp125Cys) Unknown - pathogenic g.76993330C>G - CANT1(NM_138793.3):c.375G>C (p.W125C) - CANT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.531_532del r.(?) p.(Tyr178Leufs*4) Both (homozygous) - VUS g.76993175_76993176del g.78997093_78997094del 531_532delCT - CANT1_000005 - - - - Unknown - - - - - DNA SEQ - - DBQD1 - - - - - - - - - - - 1 celine huber
?/? 4 c.531_532del r.(?) p.(Tyr178Leufs*4) Both (homozygous) - VUS g.76993175_76993176del g.78997093_78997094del 531_532delCT - CANT1_000005 - - - - Unknown - - - - - DNA SEQ - - DBQD1 - - - - - - - - - - - 1 celine huber
-?/. - c.559G>A r.(?) p.(Val187Ile) Unknown - likely benign g.76993146C>T g.78997064C>T CANT1(NM_138793.3):c.559G>A (p.V187I) - CANT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.643G>A r.(?) p.(Glu215Lys) Both (homozygous) - pathogenic (recessive) g.76991292C>T g.78995210C>T NM_138793.3:c.643G>A - CANT1_000035 - PubMed: Byrne 2020 - - Germline yes - - - - DNA SEQ-NG - WES skeletal dysplasia Fam2Pat2A/2B PubMed: Byrne 2020 2-generation family, 2 affected brothers (deceased), unaffected heterozygous carrier parents M yes Australia Turkey - - - - 1 Johan den Dunnen
?/. - c.667C>T r.(?) p.(Arg223Cys) Unknown - VUS g.76991268G>A g.78995186G>A CANT1(NM_138793.3):c.667C>T (p.R223C) - CANT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754G>T r.(?) p.(Gly252Cys) Unknown - VUS g.76991181C>A - CANT1(NM_138793.3):c.754G>T (p.G252C) - CANT1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768C>T r.(?) p.(Ser256=) Unknown - likely benign g.76991167G>A g.78995085G>A CANT1(NM_138793.3):c.768C>T (p.S256=) - CANT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.808C>T r.(?) p.(Arg270Trp) Unknown - VUS g.76991127G>A g.78995045G>A CANT1(NM_138793.3):c.808C>T (p.R270W) - CANT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.862T>C r.(?) p.(Trp288Arg) Maternal (confirmed) ACMG likely pathogenic (recessive) g.76989976A>G - - - CANT1_000031 ACMG: PP3_STR, PM3, PM2_SUP - - - Germline - - - - - DNA SEQ-NG-I - - DBQD1 211748 - prenatal trio-exom after ultrasound abnormalities ? no Germany - - - - - 1 Andreas Laner
+/. - c.889_901del r.(?) p.(Phe297AlafsTer21) Both (homozygous) - pathogenic (recessive) g.76989938_76989950del g.78993856_78993868del 899_901del - CANT1_000036 - PubMed: Ranza 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat3 PubMed: Ranza 2017 fetus, no family history - yes Algeria - <0d - - - 1 Johan den Dunnen
+/. - c.894_898dup r.(?) p.(Ser303Alafs*21) Both (homozygous) - pathogenic (recessive) g.76989940_76989944dup g.78993858_78993862dup NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21) - CANT1_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG0001 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
+/. - c.894_898dup r.(?) p.(Ser303Alafs*21) Both (homozygous) - pathogenic (recessive) g.76989940_76989944dup g.78993858_78993862dup NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21) - CANT1_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG2387 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.894_898dup r.(?) p.(Ser303Alafs*21) Both (homozygous) - pathogenic (recessive) g.76989940_76989944dup g.78993858_78993862dup NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21) - CANT1_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 16DG0734 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.894_898dup r.(?) p.(Ser303Alafs*21) Both (homozygous) - pathogenic (recessive) g.76989940_76989944dup g.78993858_78993862dup NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21) - CANT1_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 09DG00066, 09DG00019 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - 2 LOVD
+/. - c.894_898dup r.(?) p.(Ser303Alafs*21) Both (homozygous) - pathogenic (recessive) g.76989940_76989944dup g.78993858_78993862dup NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21) - CANT1_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG1354 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/. - c.894_898dup r.(?) p.(Ser303Alafs*21) Both (homozygous) - pathogenic (recessive) g.76989940_76989944dup g.78993858_78993862dup NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21) - CANT1_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0051 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
?/? 6 c.899G>A r.(?) p.(Arg300His) Both (homozygous) - VUS g.76989939C>T g.78993857C>T - - CANT1_000001 - - - - Unknown - - - - - DNA SEQ - - DBQD1 - - - - - - - - - - - 1 celine huber
+/. - c.902_906dup r.(?) p.(Ser303AlafsTer21) Unknown - pathogenic g.76989940_76989944dup g.78993858_78993862dup CANT1(NM_138793.3):c.902_906dupGCGCC (p.S303Afs*21) - CANT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.902_906dup r.(?) p.(Ser303AlafsTer21) Both (homozygous) - pathogenic (recessive) g.76989940_76989944dup g.78993858_78993862dup - - CANT1_000019 - PubMed: Ranza 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat4 PubMed: Ranza 2017 patient, family history - yes Turkey - 3m - - - 1 Johan den Dunnen
?/? 6 c.909C>G r.(?) p.(Ser303Arg) Both (homozygous) - VUS g.76989929G>C g.78993847G>C - - CANT1_000007 - - - - Unknown - - - - - DNA SEQ - - DBQD1 - - - - - - - - - - - 1 celine huber
+/. - c.943A>T r.(?) p.(Lys315Ter) Unknown - pathogenic g.76989895T>A g.78993813T>A CANT1(NM_138793.4):c.943A>T (p.K315*) - CANT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.943A>T r.(?) p.(Lys315Ter) Both (homozygous) - pathogenic (recessive) g.76989895T>A g.78993813T>A - - CANT1_000011 - PubMed: Ranza 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Ranza 2017 patient, no family history - yes Turkey - 5h - - - 1 Johan den Dunnen
-?/. - c.967G>A r.(?) p.(Ala323Thr) Unknown - likely benign g.76989871C>T - CANT1(NM_001159772.1):c.967G>A (p.(Ala323Thr)) - CANT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.982G>A r.(?) p.(Gly328Ser) Unknown - likely benign g.76989856C>T g.78993774C>T CANT1(NM_138793.3):c.982G>A (p.G328S) - CANT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1048del r.(?) p.(Ile350Serfs*44) Unknown ACMG pathogenic (recessive) g.76989790del g.78993708del - - CANT1_000014 Desbuquois Dysplasia - - rs1294064847 Unknown yes - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1121T>A r.(?) p.(Ile374Asn) Both (homozygous) - VUS g.76989717A>T g.78993635A>T - - CANT1_000002 - - - - Unknown - - - - - DNA SEQ - - DBQD1 - - - - - - - - - - - 1 celine huber
-?/. - c.1123A>T r.(?) p.(Met375Leu) Unknown - likely benign g.76989715T>A g.78993633T>A CANT1(NM_138793.3):c.1123A>T (p.M375L, p.(Met375Leu)) - CANT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1123A>T r.(?) p.(Met375Leu) Unknown - likely benign g.76989715T>A - CANT1(NM_138793.3):c.1123A>T (p.M375L, p.(Met375Leu)) - CANT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*829G>A r.(=) p.(=) Parent #1 - likely benign g.76988803C>T g.78992721C>T - - CANT1_000021 108 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115856545 Germline - 108/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 108 Mohammed Faruq
-/. - c.*847C>T r.(=) p.(=) Unknown - benign g.76988785G>A g.78992703G>A CANT1(NM_138793.4):c.*847C>T - CANT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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