Full data view for gene CHST3

Information The variants shown are described using the NM_004273.4 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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     

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Owner     
+/. - c.(?_-1)_(*1_?)del r.0? p.0 Both (homozygous) - pathogenic (recessive) g.(?_73765600)_(73768230_?)del g.(?_72005842)_(72008472_?)del 1_1440del - CHST3_000036 - PubMed: Ranza 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat14 PubMed: Ranza 2017 patient, no family history - yes Morocco - - - - - 1 Johan den Dunnen
-/. - c.-294C>G r.(?) p.(=) Unknown - benign g.73724266C>G g.71964508C>G - - CHST3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-107-5C>T r.spl? p.? Unknown - likely benign g.73765489C>T - CHST3(NM_004273.5):c.-107-5C>T - CHST3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102T>G r.(?) p.(Val34=) Unknown - likely benign g.73765702T>G g.72005944T>G CHST3(NM_004273.5):c.102T>G (p.V34=) - CHST3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108C>G r.(?) p.(Val36=) Unknown - likely benign g.73765708C>G g.72005950C>G CHST3(NM_004273.5):c.108C>G (p.V36=) - CHST3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140+7G>A r.(=) p.(=) Unknown - likely benign g.73765747G>A - CHST3(NM_004273.5):c.140+7G>A - CHST3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_3 c.141-1_141inv r.spl p.? Paternal (inferred) - pathogenic g.73766929_73766930inv g.72007171_72007172inv IVS2-1G>C and 141G>C - CHST3_000002 - PubMed: Hermanns 2008, Journal: Hermanns 2008 - - Germline yes - - - - DNA SEQ - - SEDCJD - PubMed: Hermanns 2008, Journal: Hermanns 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents, unaffected sister M no Spain - - - - - 1 Johan den Dunnen
+/. - c.206del r.(?) p.(Leu69Argfs*3) Unknown - pathogenic g.73766995del - - - CHST3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.244G>A r.(?) p.(Glu82Lys) Unknown - VUS g.73767033G>A - CHST3(NM_004273.5):c.244G>A (p.(Glu82Lys)) - CHST3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276C>A r.(?) p.(Ser92Arg) Unknown - likely benign g.73767065C>A g.72007307C>A CHST3(NM_004273.5):c.276C>A (p.S92R) - CHST3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313C>G r.(?) p.(Pro105Ala) Unknown - likely benign g.73767102C>G g.72007344C>G CHST3(NM_004273.4):c.313C>G (p.(Pro105Ala)) - CHST3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348G>T r.(?) p.(Glu116Asp) Unknown - likely benign g.73767137G>T - CHST3(NM_004273.4):c.348G>T (p.(Glu116Asp)) - CHST3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.417C>T r.(?) p.(Ala139=) Unknown - benign g.73767206C>T g.72007448C>T CHST3(NM_004273.4):c.417C>T (p.A139=) - CHST3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.430G>A r.(?) p.(Gly144Ser) Both (homozygous) - likely pathogenic (recessive) g.73767219G>A g.72007461G>A - - CHST3_000042 ACMG PM1, PM2 , PM5, PP1,  PP3, PP4 PubMed: Singh 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia Fam5Pat7/8/9 PubMed: Singh 2024 2-generation family, affected brother/sister/brother, unaffected parents F;M - India - - - - - 3 Johan den Dunnen
?/. - c.488A>T r.(?) p.(Glu163Val) Unknown - VUS g.73767277A>T g.72007519A>T - - CHST3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.500A>G r.(?) p.(His167Arg) Both (homozygous) - likely pathogenic (recessive) g.73767289A>G g.72007531A>G - - CHST3_000038 - PubMed: Singh 2024, PubMed: Jacob 2025 SCV002507172.1 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia Fam1Pat1/2 PubMed: Singh 2024, PubMed: Jacob 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - India - - - - - 2 Johan den Dunnen
-?/. - c.504C>T r.(?) p.(Ile168=) Unknown - likely benign g.73767293C>T - CHST3(NM_004273.4):c.504C>T (p.I168=) - CHST3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.590T>C r.(?) p.(Leu197Pro) Both (homozygous) ACMG pathogenic g.73767379T>C g.72007621T>C - - CHST3_000030 - - - - Germline yes - - - - RNA SEQ-NG - WES SEMD - - - - yes Pakistan - - - - - 1 Noor-ul-ain Ain
+/. - c.603C>A r.(?) p.(Tyr201*) Both (homozygous) ACMG pathogenic g.73767392C>A g.72007634C>A - - CHST3_000028 - - - - Germline - - - - - DNA SEQ-NG - - SEDCJD - - - - yes Pakistan - - - - - 1 Noor-ul-ain Ain
+/. 3 c.617_618delinsCA r.(?) p.(Phe206Ser) Maternal (confirmed) - pathogenic g.73767406_73767407delinsCA g.72007648_72007649delinsCA 617-618TC>CA (F203X) - CHST3_000001 - PubMed: Hermanns 2008, Journal: Hermanns 2008 - - Germline yes - - - - DNA SEQ - - SEDCJD - PubMed: Hermanns 2008, Journal: Hermanns 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents, unaffected sister M no Spain - - - - - 1 Johan den Dunnen
+/. - c.665G>T r.(?) p.(Arg222Leu) Both (homozygous) - likely pathogenic (recessive) g.73767454G>T g.72007696G>T NM_004273.4:c.665G>T:p.(Arg222Leu) - CHST3_000025 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG1370 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+?/. - c.688G>A r.(?) p.(Glu230Lys) Both (homozygous) - likely pathogenic (recessive) g.73767477G>A g.72007719G>A - - CHST3_000039 - PubMed: Singh 2024, PubMed: Jacob 2025 SCV002507147.1 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia Fam2Pat3;? PubMed: Singh 2024, PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - 1 Johan den Dunnen
-?/. - c.705G>A r.(?) p.(Thr235=) Unknown - likely benign g.73767494G>A g.72007736G>A CHST3(NM_004273.5):c.705G>A (p.T235=) - CHST3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.766A>T r.(?) p.(Asn256Tyr) Unknown - VUS g.73767555A>T - CHST3(NM_004273.4):c.766A>T (p.N256Y), CHST3(NM_004273.5):c.766A>T (p.(Asn256Tyr)) - CHST3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.766A>T r.(?) p.(Asn256Tyr) Unknown - VUS g.73767555A>T - CHST3(NM_004273.4):c.766A>T (p.N256Y), CHST3(NM_004273.5):c.766A>T (p.(Asn256Tyr)) - CHST3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.768C>G r.(?) p.(Asn256Lys) Both (homozygous) - likely pathogenic (recessive) g.73767557C>G g.72007799C>G - - CHST3_000043 - PubMed: Jacob 2025 SCV002507191.1 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - - - - 1 Johan den Dunnen
?/. - c.793C>G r.(?) p.(Arg265Gly) Unknown - VUS g.73767582C>G g.72007824C>G CHST3(NM_004273.4):c.793C>G (p.(Arg265Gly)) - CHST3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.823G>A r.(?) p.(Val275Met) Unknown - VUS g.73767612G>A g.72007854G>A CHST3(NM_004273.4):c.823G>A (p.V275M, p.(Val275Met)) - CHST3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.823G>A r.(?) p.(Val275Met) Unknown - VUS g.73767612G>A - CHST3(NM_004273.4):c.823G>A (p.V275M, p.(Val275Met)) - CHST3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.869C>G r.(?) p.(Pro290Arg) Unknown - VUS g.73767658C>G - CHST3(NM_004273.5):c.869C>G (p.(Pro290Arg)) - CHST3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.976dupG r.(?) p.(Asp326GlyfsTer186) Both (homozygous) - pathogenic (recessive) g.73767765dup g.72008007dup 976dupG - CHST3_000041 ACMG PVS1, PM2 , PP3 PubMed: Singh 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia Fam3Pat4 PubMed: Singh 2024 2-generation family, 1 affected, unaffected parents M - India - - - - - 1 Johan den Dunnen
?/. - c.1003G>A r.(?) p.(Glu335Lys) Unknown - VUS g.73767792G>A g.72008034G>A CHST3(NM_004273.4):c.1003G>A (p.E335K) - CHST3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - benign g.73767859G>A g.72008101G>A CHST3(NM_004273.5):c.1070G>A (p.R357Q) - CHST3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - benign g.73767859G>A g.72008101G>A CHST3(NM_004273.5):c.1070G>A (p.R357Q) - CHST3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - benign g.73767859G>A g.72008101G>A CHST3(NM_004273.5):c.1070G>A (p.R357Q) - CHST3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1135C>T r.(?) p.(=) Unknown - likely benign g.73767924C>T - CHST3(NM_004273.5):c.1135C>T (p.L379=) - CHST3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1160G>A r.(?) p.(Arg387His) Parent #1 - benign g.73767949G>A g.72008191G>A - - CHST3_000023 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145384892 Germline - 4/2785 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.1160G>A r.(?) p.(Arg387His) Unknown - likely benign g.73767949G>A - CHST3(NM_004273.4):c.1160G>A (p.(Arg387His)) - CHST3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1165G>C r.(?) p.(Ala389Pro) Both (homozygous) - likely pathogenic (recessive) g.73767954G>C g.72008196G>C - - CHST3_000040 - PubMed: Singh 2024, PubMed: Jacob 2025 SCV002054012.2 - Germline - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia Fam4Pat5/6;? PubMed: Singh 2024, PubMed: Jacob 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - India - - - - - 2 Johan den Dunnen
-?/. - c.1173C>A r.(?) p.(Ile391=) Unknown - likely benign g.73767962C>A g.72008204C>A CHST3(NM_004273.5):c.1173C>A (p.I391=) - CHST3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197C>T r.(?) p.(Asp399=) Unknown - likely benign g.73767986C>T g.72008228C>T CHST3(NM_004273.4):c.1197C>T (p.D399=), CHST3(NM_004273.5):c.1197C>T (p.D399=) - CHST3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197C>T r.(?) p.(Asp399=) Unknown - likely benign g.73767986C>T g.72008228C>T CHST3(NM_004273.4):c.1197C>T (p.D399=), CHST3(NM_004273.5):c.1197C>T (p.D399=) - CHST3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251G>C r.(?) p.(Thr417=) Unknown - likely benign g.73768040G>C g.72008282G>C CHST3(NM_004273.4):c.1251G>C (p.T417=), CHST3(NM_004273.5):c.1251G>C (p.T417=) - CHST3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1251G>C r.(?) p.(Thr417=) Unknown - likely benign g.73768040G>C g.72008282G>C CHST3(NM_004273.4):c.1251G>C (p.T417=), CHST3(NM_004273.5):c.1251G>C (p.T417=) - CHST3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1336C>T r.(?) p.(Pro446Ser) Unknown - likely benign g.73768125C>T - CHST3(NM_004273.4):c.1336C>T (p.(Pro446Ser)) - CHST3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1347C>T r.(?) p.(Arg449=) Unknown - benign g.73768136C>T g.72008378C>T CHST3(NM_004273.4):c.1347C>T (p.R449=) - CHST3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1363C>G r.(?) p.(Leu455Val) Unknown - likely benign g.73768152C>G g.72008394C>G CHST3(NM_004273.4):c.1363C>G (p.L455V), CHST3(NM_004273.5):c.1363C>G (p.L455V) - CHST3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1363C>G r.(?) p.(Leu455Val) Unknown - likely benign g.73768152C>G g.72008394C>G CHST3(NM_004273.4):c.1363C>G (p.L455V), CHST3(NM_004273.5):c.1363C>G (p.L455V) - CHST3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1428C>T r.(?) p.(Phe476=) Unknown - benign g.73768217C>T g.72008459C>T CHST3(NM_004273.5):c.1428C>T (p.F476=) - CHST3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1428C>T r.(=) p.(=) Parent #1 - likely benign g.73768217C>T g.72008459C>T - - CHST3_000011 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75845750 Germline - 2/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
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