Full data view for gene B3GAT3

Information The variants shown are described using the NM_012200.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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     

Panel size     

Owner     
-?/. - c.-5146C>T r.(?) p.(=) Unknown - likely benign g.62394565G>A g.62627093G>A GANAB(NM_001329224.1):c.1554C>T (p.D518=) - B3GAT3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4643T>C r.(?) p.(=) Unknown - VUS g.62394062A>G g.62626590A>G - - B3GAT3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4464C>T r.(?) p.(=) Unknown - VUS g.62393883G>A g.62626411G>A GANAB(NM_001278192.1):c.2272C>T (p.(His758Tyr)) - GANAB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-4210A>G r.(?) p.(=) Unknown - VUS g.62393629T>C - GANAB(NM_198335.3):c.2699A>G (p.D900G) - B3GAT3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>T r.(?) p.(Met1?) Unknown - pathogenic g.62389419T>A g.62621947T>A B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.3):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1A>T r.(?) p.(Met1?) Unknown - likely pathogenic g.62389419T>A g.62621947T>A B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.3):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1A>T r.(?) p.(Met1?) Unknown - likely pathogenic g.62389419T>A - B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.3):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104C>T r.(?) p.(Pro35Leu) Unknown - VUS g.62388122G>A - B3GAT3(NM_012200.3):c.104C>T (p.P35L) - B3GAT3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.167C>T r.(?) p.(Ala56Val) Unknown - likely benign g.62388059G>A g.62620587G>A B3GAT3(NM_012200.3):c.167C>T (p.(Ala56Val)) - B3GAT3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.175C>T r.(?) p.(Arg59Ter) Unknown - likely pathogenic g.62388051G>A g.62620579G>A B3GAT3(NM_001288723.1):c.175C>T (p.R59*) - B3GAT3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(Pro71=) Unknown - likely benign g.62388013G>A g.62620541G>A B3GAT3(NM_001288723.1):c.213C>T (p.P71=), B3GAT3(NM_012200.3):c.213C>T (p.P71=) - B3GAT3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(Pro71=) Unknown - likely benign g.62388013G>A g.62620541G>A B3GAT3(NM_001288723.1):c.213C>T (p.P71=), B3GAT3(NM_012200.3):c.213C>T (p.P71=) - B3GAT3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257+3A>G r.spl? p.? Unknown - VUS g.62387966T>C g.62620494T>C B3GAT3(NM_012200.3):c.257+3A>G (p.?) - B3GAT3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430C>T r.(?) p.(Arg144Trp) Unknown - VUS g.62384647G>A g.62617175G>A B3GAT3(NM_001288723.1):c.430C>T (p.R144W) - B3GAT3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.481C>T r.(?) p.(Arg161Trp) Paternal (confirmed) - likely pathogenic (recessive) g.62384596G>A g.62617124G>A - - B3GAT3_000009 - Ritelli et al., submitted 2019 - rs765246909 Germline - - - 0 - DNA SEQ-NG-IT Blood Whole exome sequencing JDSSCDHD - Ritelli et al., submitted 2019 - F no (Italy) - 16y 0 - - 1 Marco Ritelli
-/. - c.821C>A r.(?) p.(Thr274Asn) Unknown - benign g.62384066G>T g.62616594G>T B3GAT3(NM_012200.3):c.821C>A (p.(Thr274Asn), p.T274N) - B3GAT3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.821C>A r.(?) p.(Thr274Asn) Unknown - likely benign g.62384066G>T g.62616594G>T B3GAT3(NM_012200.3):c.821C>A (p.(Thr274Asn), p.T274N) - B3GAT3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.830G>A r.(?) p.(Arg277Gln) Both (homozygous) - pathogenic g.62384057C>T g.62616585C>T - - B3GAT3_000001 not in 1144 control chromosomes PubMed: Baasanjav 2011, OMIM:var0001 - - Germline yes - - 0 - DNA SEQ - - JDSSCDHD - PubMed: Baasanjav 2011 4-generation family, 4 affecteds, unaffected carrier parents - yes United Arab Emirates - - 0 - - 4 Johan den Dunnen
+?/. - c.830G>A r.(?) p.(Arg277Gln) Parent #1 - likely pathogenic g.62384057C>T g.62616585C>T - - B3GAT3_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387906937 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. 4 c.889C>T r.(?) p.(Arg297Trp) Maternal (confirmed) - likely pathogenic (recessive) g.62383998G>A g.62616526G>A - - B3GAT3_000008 - Ritelli et al., submitted 2019 - rs759636773 Germline - - - 0 - DNA SEQ-NG-IT Blood Whole exome sequencing JDSSCDHD - Ritelli et al., submitted 2019 - F no (Italy) - 16y 0 - - 1 Marco Ritelli
-?/. - c.909G>A r.(?) p.(Arg303=) Unknown - likely benign g.62383978C>T - B3GAT3(NM_001288723.1):c.909G>A (p.R303=) - B3GAT3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.909+262del r.(=) p.(=) Unknown - benign g.62383730del g.62616258del B3GAT3(NM_001288723.1):c.910-4delT - B3GAT3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.909+262del r.(=) p.(=) Unknown - likely benign g.62383730del g.62616258del B3GAT3(NM_001288723.1):c.910-4delT - B3GAT3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.909+262T>G r.(=) p.(=) Unknown - benign g.62383716A>C g.62616244A>C B3GAT3(NM_001288723.1):c.910-4T>G - B3GAT3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.909+263C>G r.(=) p.(=) Unknown - benign g.62383715G>C - B3GAT3(NM_001288723.2):c.910-3C>G - B3GAT3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909+263C>T r.(=) p.(=) Unknown - likely benign g.62383715G>A g.62616243G>A B3GAT3(NM_001288723.1):c.910-3C>T - B3GAT3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.909+263del r.(=) p.(=) Unknown - benign g.62383715del g.62616243del B3GAT3(NM_001288723.1):c.910-3delC - B3GAT3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.909+263del r.(=) p.(=) Unknown - benign g.62383715del g.62616243del B3GAT3(NM_001288723.1):c.910-3delC - B3GAT3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.909+263_909+264insG r.(=) p.(=) Unknown - benign g.62383714_62383715insC g.62616242_62616243insC B3GAT3(NM_001288723.1):c.910-3_910-2insG - B3GAT3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.909+270_909+271del r.(=) p.(=) Unknown - benign g.62383709_62383710del g.62616237_62616238del B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35) - B3GAT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.909+270_909+271del r.(=) p.(=) Unknown - likely benign g.62383709_62383710del g.62616237_62616238del B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35) - B3GAT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909+303A>G r.(=) p.(=) Unknown - likely benign g.62383675T>C - B3GAT3(NM_012200.3):c.909+303A>G - B3GAT3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.929G>C r.(?) p.(Arg310Pro) Unknown - VUS g.62383252C>G g.62615780C>G B3GAT3(NM_012200.3):c.929G>C (p.(Arg310Pro)) - B3GAT3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930G>A r.(?) p.(Arg310=) Unknown - likely benign g.62383251C>T g.62615779C>T B3GAT3(NM_012200.3):c.930G>A (p.R310=) - B3GAT3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*977C>T r.(=) p.(=) Unknown - VUS g.62382196G>A g.62614724G>A - - ROM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1050del r.(?) p.(=) Unknown - benign g.62382123del g.62614651del ROM1(NM_000327.3):c.868delC (p.Q290Kfs*26) - B3GAT3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1239T>A r.(=) p.(=) Unknown - likely benign g.62381934A>T g.62614462A>T ROM1(NM_000327.3):c.795A>T (p.A265=) - B3GAT3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1348C>T r.(=) p.(=) Unknown - likely benign g.62381825G>A g.62614353G>A ROM1(NM_000327.3):c.686G>A (p.R229H, p.(Arg229His)) - ROM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1348C>T r.(=) p.(=) Unknown - likely benign g.62381825G>A g.62614353G>A ROM1(NM_000327.3):c.686G>A (p.R229H, p.(Arg229His)) - ROM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1849C>T r.(=) p.(=) Unknown - benign g.62381324G>A g.62613852G>A ROM1(NM_000327.3):c.571G>A (p.G191S) - ROM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*1908C>T r.(=) p.(=) Unknown - VUS g.62381265G>A g.62613793G>A ROM1(NM_000327.3):c.512G>A (p.R171H) - ROM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2023G>A r.(=) p.(=) Unknown - likely benign g.62381150C>T - ROM1(NM_000327.3):c.397C>T (p.L133=) - B3GAT3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2067C>G r.(=) p.(=) Unknown - benign g.62381106G>C g.62613634G>C ROM1(NM_000327.3):c.353G>C (p.G118A) - ROM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2067C>G r.(=) p.(=) Unknown - benign g.62381106G>C - ROM1(NM_000327.3):c.353G>C (p.G118A) - ROM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2069G>A r.(=) p.(=) Unknown - likely benign g.62381104C>T - ROM1(NM_000327.3):c.351C>T (p.V117=) - B3GAT3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2089del r.(?) p.(=) Unknown - pathogenic g.62381092del g.62613620del ROM1(NM_000327.3):c.339delG (p.L114Sfs*8) - ROM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*2089del r.(?) p.(=) Unknown - VUS g.62381092del g.62613620del ROM1(NM_000327.3):c.339delG (p.L114Sfs*8) - ROM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2089dup r.(?) p.(=) Unknown - VUS g.62381092dup g.62613620dup ROM1(NM_000327.3):c.339dupG (p.L114Afs*18) - B3GAT3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2089dup r.(?) p.(=) Unknown - pathogenic g.62381092dup g.62613620dup ROM1(NM_000327.3):c.339dupG (p.L114Afs*18) - B3GAT3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2097G>A r.(=) p.(=) Unknown - likely benign g.62381076C>T g.62613604C>T ROM1(NM_000327.3):c.323C>T (p.T108M) - ROM1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2242G>T r.(=) p.(=) Unknown - likely benign g.62380931C>A g.62613459C>A ROM1(NM_000327.3):c.178C>A (p.P60T) - ROM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*2322C>T r.(=) p.(=) Unknown - VUS g.62380851G>A g.62613379G>A - - B3GAT3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2339C>A r.(=) p.(=) Unknown - benign g.62380834G>T g.62613362G>T ROM1(NM_000327.3):c.81G>T (p.L27=) - ROM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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