Unique variants in gene B3GLCT

NOTE: the name of this gene was recently changed from B3GALTL to B3GLCT.
Information The variants shown are described using the NM_194318.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.35C>A r.(?) p.(Pro12Gln) - likely benign g.31774256C>A g.31200119C>A B3GLCT(NM_194318.3):c.35C>A (p.P12Q) - B3GLCT_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.58A>C r.(?) p.(Thr20Pro) - likely benign g.31774279A>C - B3GLCT(NM_194318.3):c.58A>C (p.T20P) - B3GLCT_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 1i c.70+153_70+157dup r.(=) p.(=) - VUS g.31774444_31774448dup g.31200307_31200311dup - - B3GLCT_000027 - - - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 1i c.71-85T>C r.(=) p.(=) - VUS g.31789103T>C g.31214966T>C - - B3GLCT_000023 - - - - Unknown - - - - - Martine van Belzen
-?/. 1 - c.71-9T>C r.(=) p.(=) - likely benign g.31789179T>C g.31215042T>C B3GLCT(NM_194318.3):c.71-9T>C - B3GLCT_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.71-6_71-5del r.spl? p.? - benign g.31789182_31789183del g.31215045_31215046del B3GLCT(NM_194318.3):c.71-6_71-5delTT - B3GLCT_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.71-5del r.spl? p.? - benign g.31789183del g.31215046del B3GLCT(NM_194318.3):c.71-5delT - B3GLCT_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.71-4_71del r.spl? p.? - likely benign g.31789184_31789188del g.31215047_31215051del B3GALTL(NM_194318.3):c.71-4_71del (p.?) - B3GLCT_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.76G>T r.(?) p.(Gly26Cys) - likely benign g.31789193G>T g.31215056G>T B3GALTL(NM_194318.3):c.76G>T (p.(Gly26Cys)) - B3GLCT_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.77G>T r.(?) p.(Gly26Val) - likely benign g.31789194G>T g.31215057G>T B3GALTL(NM_194318.3):c.77G>T (p.(Gly26Val)) - B3GLCT_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.81G>T r.(?) p.(Leu27Phe) - likely benign g.31789198G>T g.31215061G>T B3GALTL(NM_194318.3):c.81G>T (p.(Leu27Phe)) - B3GLCT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.82G>T r.(?) p.(Ala28Ser) - likely benign g.31789199G>T g.31215062G>T B3GALTL(NM_194318.3):c.82G>T (p.(Ala28Ser)) - B3GLCT_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.83C>T r.(?) p.(Ala28Val) - likely benign g.31789200C>T g.31215063C>T B3GALTL(NM_194318.3):c.83C>T (p.(Ala28Val)) - B3GLCT_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 1 2i c.121-133G>A r.(=) p.(=) - VUS g.31796956G>A g.31222819G>A - - B3GLCT_000025 - - - - Unknown - - - - - Martine van Belzen
?/? 2 2i c.121-120G>C r.(=) p.(=) - VUS g.31796969G>C g.31222832G>C - - B3GLCT_000008 dbSNP: 0.97 - - rs2147515 Unknown - 6/6 - - - Martine van Belzen, Johan den Dunnen
-/-, ?/? 2 2i c.121-83A>G r.(=) p.(=) - benign, VUS g.31797006A>G g.31222869A>G - - B3GLCT_000022 - - - rs3818415 Unknown - - - - - Martine van Belzen, Johan den Dunnen
-?/. 1 - c.161-7G>T r.(=) p.(=) - likely benign g.31803315G>T g.31229178G>T B3GALTL(NM_194318.3):c.161-7G>T (p.(=)) - B3GLCT_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 4 c.230dup r.(?) p.(Leu77Phefs*27) - likely pathogenic g.31803391dup g.31229254dup - - B3GLCT_000032 - PubMed: Reis 2008 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 - c.236_239del r.(?) p.(Lys79ThrfsTer3) - pathogenic g.31803397_31803400del g.31229260_31229263del B3GLCT(NM_194318.3):c.236_239delAAAG (p.K79Tfs*3) - B3GLCT_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 1 4i c.270+1G>A r.spl? p.? - pathogenic g.31803432G>A g.31229295G>A 1020+1G>A - B3GLCT_000036 - {PMID18759095:Kapoor 2008:18759095} - - Unknown - - - - - Johan den Dunnen
?/?, -?/. 3 4i c.271-12T>C r.(=) p.(=) - VUS, likely benign g.31821148T>C g.31247011T>C B3GALTL(NM_194318.3):c.271-12T>C - B3GLCT_000009 VKGL data sharing initiative Nederland - - rs34698943 Unknown, CLASSIFICATION record - - - - - Martine van Belzen, Johan den Dunnen, VKGL-NL_Utrecht
-?/. 1 - c.271-8T>C r.(=) p.(=) - likely benign g.31821152T>C g.31247015T>C B3GALTL(NM_194318.3):c.271-8T>C (p.(=)) - B3GLCT_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/? 3 5 c.288C>T r.(?), r.(=) p.(Leu96=), p.(=) - likely benign, VUS g.31821177C>T g.31247040C>T B3GLCT(NM_194318.3):c.288C>T (p.L96=) - B3GLCT_000028 VKGL data sharing initiative Nederland - - rs9542305 CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, Martine van Belzen, Johan den Dunnen
-?/. 1 - c.315A>G r.(?) p.(Glu105=) - likely benign g.31821204A>G g.31247067A>G B3GLCT(NM_194318.3):c.315A>G (p.E105=) - B3GLCT_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.335del r.(?) p.(Pro112ArgfsTer8) - pathogenic g.31821224del g.31247087del B3GALTL(NM_194318.3):c.335delC (p.P112Rfs*8) - B3GLCT_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/?, -/., ?/. 6 5i c.347+4C>T r.spl?, r.(=) p.?, p.(=) - VUS, benign g.31821240C>T g.31247103C>T B3GLCT(NM_194318.3):c.347+4C>T - B3GLCT_000011 VKGL data sharing initiative Nederland PubMed: Almomani 2011 - rs9564692 Unknown, CLASSIFICATION record, Germline - 1/6 - - - Martine van Belzen, Johan den Dunnen, VKGL-NL_Groningen
?/? 3 5i c.347+5G>A r.spl? p.? - VUS g.31821241G>A g.31247104G>A 437+5G>A - B3GLCT_000003 - PubMed: Lesnik Oberstein 2006 - rs80338850 Germline, Unknown - - - - - Martine van Belzen, Johan den Dunnen
?/?, -/., ?/. 7 5i c.347+20C>G r.(=) p.(=) - VUS, benign g.31821256C>G g.31247119C>G B3GLCT(NM_194318.3):c.347+20C>G - B3GLCT_000010 VKGL data sharing initiative Nederland PubMed: Almomani 2011 - rs9542307 Unknown, CLASSIFICATION record, Germline - 2/3 - - - Martine van Belzen, Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/? 2 6 c.348C>T r.(?) p.(=) (p.His116), p.(=) - VUS g.31821992C>T g.31247855C>T - - B3GLCT_000012 2 more items - - rs4943266 Unknown - 0/6 - - - Martine van Belzen, Johan den Dunnen
-/., ?/. 4 6 c.348T>C r.(?), r.(=) p.(His116=), p.(=) - benign, VUS g.31821992T>C g.31247855T>C B3GLCT(NM_194318.3):c.348T>C (p.H116=) - B3GLCT_000039 VKGL data sharing initiative Nederland PubMed: Almomani 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, Johan den Dunnen
-?/. 1 - c.452C>T r.(?) p.(Pro151Leu) - likely benign g.31822096C>T g.31247959C>T B3GALTL(NM_194318.3):c.452C>T (p.(Pro151Leu)) - B3GLCT_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+?, +/? 2 6i c.459+1G>A r.spl? p.? - likely pathogenic, pathogenic g.31822104G>A g.31247967G>A 1020+1G>A - B3GLCT_000031 - PubMed: Reis 2008, PubMed: Dassie-Ajdid 2009 - - Germline, Unknown - - - - - Global Variome, with Curator vacancy, Johan den Dunnen
+/. 1 - c.596+2_596+5del r.spl? p.? - pathogenic g.31835221_31835224del g.31261084_31261087del B3GLCT(NM_194318.3):c.595_596+2delAAGT - B3GLCT_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 2 7i c.596+50del r.(=) p.(=) - VUS g.31835269del g.31261132del - - B3GLCT_000013 - - - rs34409451 Unknown - 2/3 - - - Martine van Belzen, Johan den Dunnen
?/? 2 7i c.597-23del r.(=) p.(=) - VUS g.31843328del g.31269191del - - B3GLCT_000014 rs35261337 - - rs3215787 Unknown - - - - - Martine van Belzen, Johan den Dunnen
+/+ 2 7i_15 c.(596+1_597-1)_(*1848_?)del r.? p.? - pathogenic g.(31835220_31843350)_(31905653_?)del - (?_-142)_(*1848_?)del - B3GLCT_000001 partial gene deletion (exon 8-15), not as reported a full gene deletion PubMed: Lesnik Oberstein 2006, PubMed: Hess 2008, PubMed: Lesnik Oberstein 2006 - - Germline - - - - - Martine van Belzen
+/., +/+, ?/?, +/?, ?/. 28 8i c.660+1G>A r.spl?, r.(=) p.?, p.(=) - pathogenic, VUS g.31843415G>A g.31269278G>A B3GALTL(NM_194318.3):c.660+1G>A (p.?), B3GLCT(NM_194318.3):c.660+1G>A, 1020+1G>A - B3GLCT_000002 VKGL data sharing initiative Nederland, Founder mutation PubMed: Lesnik Oberstein 2006, PubMed: Hess 2008, PubMed: Lesnik Oberstein 2006, 2 more items - rs80338851 CLASSIFICATION record, Germline, Unknown yes - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, Martine van Belzen, VKGL-NL_Groningen, Johan den Dunnen, Karen Stals, VKGL-NL_Utrecht
?/? 2 9 c.672C>T r.(=) p.(=) - VUS g.31848657C>T g.31274520C>T - - B3GLCT_000015 dbSNP: 0.05 - - rs35019745 Unknown - 1/6 - - - Martine van Belzen, Johan den Dunnen
?/?, -?/. 3 9 c.733G>A r.(?) p.(Val245Met) - VUS, likely benign g.31848718G>A g.31274581G>A B3GALTL(NM_194318.3):c.733G>A (p.(Val245Met)) - B3GLCT_000026 VKGL data sharing initiative Nederland - - rs34830061 Unknown, CLASSIFICATION record - - - - - Martine van Belzen, Johan den Dunnen, VKGL-NL_Leiden
?/?, ?/. 3 9i c.780+58A>G r.(=) p.(=) - VUS g.31848823A>G g.31274686A>G - - B3GLCT_000016 dbSNP: 0.19 PubMed: Almomani 2011 - rs728930 Unknown, Germline - 3/6 - - - Martine van Belzen, Johan den Dunnen
?/? 1 9i c.781-34_781-31dup r.(=) p.(=) - VUS g.31850805_31850808dup g.31276668_31276671dup - - B3GLCT_000017 - - - - Unknown - 4/6 - - - Martine van Belzen
?/?, ?/. 7 10i c.850+81G>A r.(=) p.(=) - VUS g.31850989G>A g.31276852G>A - - B3GLCT_000018 dbSNP: 0.64 PubMed: Almomani 2011 - rs4065552 Unknown, Germline - 2/3 - - - Martine van Belzen, Johan den Dunnen
?/. 1 10i c.850+151A>G r.(=) p.(=) - VUS g.31851059A>G g.31276922A>G - - B3GLCT_000044 - PubMed: Almomani 2011 - rs1409373 Germline - - - - - Johan den Dunnen
?/? 2 11i c.965-88G>C r.(=) p.(=) - VUS g.31860769G>C g.31286632G>C - - B3GLCT_000019 dbSNP: 0.25 - - rs9543606 Unknown - 4/6 - - - Martine van Belzen, Johan den Dunnen
?/. 1 - c.1040T>C r.(?) p.(Ile347Thr) - VUS g.31860932T>C g.31286795T>C B3GLCT(NM_194318.3):c.1040T>C (p.I347T) - B3GLCT_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/+? 1 12 c.1052A>G r.(?) p.(Asp351Gly) - VUS g.31860944A>G g.31286807A>G - - B3GLCT_000030 - - - - Unknown - - - - - Martine van Belzen
?/? 2 12i c.1065-19G>T r.(=) p.(=) - VUS g.31891684G>T g.31317547G>T - - B3GLCT_000029 - - - rs28668251 Unknown - - - - - Martine van Belzen, Johan den Dunnen
+/+ 1 13 c.1098T>A r.(?) p.(Tyr366*) - pathogenic g.31891736T>A g.31317599T>A - - B3GLCT_000034 - - - - Unknown - - - - - Martine van Belzen
-?/., ?/?, ?/., -/. 5 13 c.1105G>A r.(?) p.(Gly369Ser) - likely benign, VUS, benign g.31891743G>A g.31317606G>A B3GALTL(NM_194318.3):c.1105G>A (p.(Gly369Ser), p.G369S) - B3GLCT_000004 VKGL data sharing initiative Nederland PubMed: Almomani 2011 - rs34638481 CLASSIFICATION record, Unknown, Germline - 0.01 - - - VKGL-NL_Leiden, Martine van Belzen, Johan den Dunnen, VKGL-NL_Utrecht
?/? 2 13 c.1108A>G r.(?) p.(Lys370Glu) - VUS g.31891746A>G g.31317609A>G - - B3GLCT_000020 1 more item - - rs1041073 Unknown - 0.37 - - - Martine van Belzen, Johan den Dunnen
-/., ?/. 6 13 c.1108G>A r.(?) p.(Glu370Lys) - benign, VUS g.31891746G>A g.31317609G>A B3GLCT(NM_194318.3):c.1108G>A (p.E370K) - B3GLCT_000048 VKGL data sharing initiative Nederland PubMed: Almomani 2011 - rs041073 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, Johan den Dunnen
+/+ 1 13 c.1140C>A r.(?) p.(Tyr380*) - pathogenic g.31891778C>A g.31317641C>A - - B3GLCT_000035 - - - - Unknown - - - - - Martine van Belzen
+/? 1 13 c.1178G>A r.(?) p.(Gly393Glu) - pathogenic g.31891816G>A g.31317679G>A - - B3GLCT_000037 not in 100 control chromosomes (Caucasian) PubMed: Dassie-Ajdid 2009 - - Unknown - - - - - Johan den Dunnen
+?/. 1 - c.1183G>A r.(?) p.(Gly395Arg) - likely pathogenic g.31891821G>A g.31317684G>A - - B3GLCT_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 13i c.1185-2A>G r.spl? p.? - pathogenic g.31897886A>G g.31323749A>G - - B3GLCT_000033 - - - - Unknown - - - - - Martine van Belzen
-?/., ?/? 2 14 c.1207G>A r.(?) p.(Val403Ile) - likely benign, VUS g.31897910G>A g.31323773G>A B3GLCT(NM_194318.3):c.1207G>A (p.V403I) - B3GLCT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Martine van Belzen
?/. 1 - c.1255C>T r.(?) p.(Pro419Ser) - VUS g.31897958C>T g.31323821C>T B3GALTL(NM_194318.3):c.1255C>T (p.(Pro419Ser)) - B3GLCT_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1405G>T r.(?) p.(Asp469Tyr) - VUS g.31903713G>T g.31329576G>T B3GLCT(NM_194318.3):c.1405G>T (p.D469Y) - B3GLCT_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 6 15 c.*29G>T r.(=) p.(=) - benign, VUS g.31903834G>T g.31329697G>T - - B3GLCT_000049 VKGL data sharing initiative Nederland PubMed: Almomani 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Johan den Dunnen
?/? 2 15 c.*29T>G r.(?) p.(=) - VUS g.31903834T>G g.31329697T>G - - B3GLCT_000005 2 more items - - rs1060709 Unknown - 4/6 - - - Martine van Belzen, Johan den Dunnen
?/?, ?/. 4 15 c.*36A>G r.(=) p.(=) - VUS g.31903841A>G g.31329704A>G - - B3GLCT_000021 - PubMed: Almomani 2011 - - Unknown, Germline - 1/6 - - - Martine van Belzen, Johan den Dunnen
?/? 2 15 c.*1795G>A r.(?) p.(=) - VUS g.31905600G>A g.31331463G>A - - B3GLCT_000006 1 more item - - rs912604 Unknown - 0.65 - - - Martine van Belzen, Johan den Dunnen
?/? 2 15 c.*1830A>G r.(?) p.(=) - VUS g.31905635A>G g.31331498A>G - - B3GLCT_000007 1 more item - - rs912603 Unknown - 0.38 - - - Martine van Belzen, Johan den Dunnen
?/. 1 15 c.*1836G>A r.(=) p.(=) - VUS g.31905641G>A g.31331504G>A - - B3GLCT_000050 - PubMed: Almomani 2011 - rs912603 Germline - - - - - Johan den Dunnen
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