All transcript 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.

154 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
-?/. - 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
-?/. - 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
?/? 1i c.70+153_70+157dup r.(=) p.(=) - VUS g.31774444_31774448dup g.31200307_31200311dup - - B3GLCT_000027 - - - - Germline - - - 0 - Global Variome, with Curator vacancy
?/? 1i c.71-85T>C r.(=) p.(=) - VUS g.31789103T>C g.31214966T>C - - B3GLCT_000023 - - - - Unknown - - - 0 - Martine van Belzen
-?/. - 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
-/. - 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
-/. - 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 - - - 0 - VKGL-NL_AMC
-/. - 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 - - - 0 - VKGL-NL_Groningen
-?/. - 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
-?/. - 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
-?/. - 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
-?/. - 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
-?/. - 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
-?/. - 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
?/? 2i c.121-133G>A r.(=) p.(=) - VUS g.31796956G>A g.31222819G>A - - B3GLCT_000025 - - - - Unknown - - - 0 - Martine van Belzen
?/? 2i c.121-120G>C r.(=) p.(=) - VUS g.31796969G>C g.31222832G>C - - B3GLCT_000008 - - - - Unknown - 6/6 - 0 - Martine van Belzen
?/? 2i c.121-120G>C r.(=) p.(=) - VUS g.31796969G>C g.31222832G>C - - B3GLCT_000008 dbSNP: 0.97 - - rs2147515 Unknown - - - 0 - Johan den Dunnen
-/- 2i c.121-83A>G r.(=) p.(=) - benign g.31797006A>G g.31222869A>G - - B3GLCT_000022 - - - - Unknown - - - 0 - Martine van Belzen
?/? 2i c.121-83A>G r.(=) p.(=) - VUS g.31797006A>G g.31222869A>G - - B3GLCT_000022 - - - rs3818415 Unknown - - - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Leiden
+?/+? 4 c.230dup r.(?) p.(Leu77Phefs*27) - likely pathogenic g.31803391dup g.31229254dup - - B3GLCT_000032 - PubMed: Reis 2008 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. - 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 - - - 0 - VKGL-NL_Groningen
+/? 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 - - - 0 - Johan den Dunnen
?/? 4i c.271-12T>C r.(=) p.(=) - VUS g.31821148T>C g.31247011T>C - - B3GLCT_000009 - - - - Unknown - - - 0 - Martine van Belzen
?/? 4i c.271-12T>C r.(=) p.(=) - VUS g.31821148T>C g.31247011T>C - - B3GLCT_000009 - - - rs34698943 Unknown - - - 0 - Johan den Dunnen
-?/. - c.271-12T>C r.(=) p.(=) - likely benign g.31821148T>C g.31247011T>C B3GALTL(NM_194318.3):c.271-12T>C - B3GLCT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - 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
?/? 5 c.288C>T r.(=) p.(=) - VUS g.31821177C>T g.31247040C>T - - B3GLCT_000028 - - - - Unknown - - - 0 - Martine van Belzen
?/? 5 c.288C>T r.(=) p.(=) - VUS g.31821177C>T g.31247040C>T - - B3GLCT_000028 - - - rs9542305 Unknown - - - 0 - Johan den Dunnen
-?/. - c.288C>T r.(?) p.(Leu96=) - likely benign g.31821177C>T g.31247040C>T B3GLCT(NM_194318.3):c.288C>T (p.L96=) - B3GLCT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - 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
+/. - 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 - - - 0 - VKGL-NL_VUmc
?/? 5i c.347+4C>T r.spl? p.? - VUS g.31821240C>T g.31247103C>T - - B3GLCT_000011 - - - - Unknown - 1/6 - 0 - Martine van Belzen
?/? 5i c.347+4C>T r.spl? p.? - VUS g.31821240C>T g.31247103C>T - - B3GLCT_000011 - - - rs9564692 Unknown - - - 0 - Johan den Dunnen
?/. 5i c.347+4C>T r.(=) p.(=) - VUS g.31821240C>T g.31247103C>T - - B3GLCT_000011 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
?/. 5i c.347+4C>T r.(=) p.(=) - VUS g.31821240C>T g.31247103C>T - - B3GLCT_000011 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
?/. 5i c.347+4C>T r.(=) p.(=) - VUS g.31821240C>T g.31247103C>T - - B3GLCT_000011 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
-/. - c.347+4C>T r.spl? p.? - benign g.31821240C>T g.31247103C>T B3GLCT(NM_194318.3):c.347+4C>T - B3GLCT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/? 5i c.347+5G>A r.spl? p.? - VUS g.31821241G>A g.31247104G>A - - B3GLCT_000003 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 5i c.347+5G>A r.spl? p.? - VUS g.31821241G>A g.31247104G>A 437+5G>A - B3GLCT_000003 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 5i c.347+5G>A r.spl? p.? - VUS g.31821241G>A g.31247104G>A - - B3GLCT_000003 - - - rs80338850 Unknown - - - 0 - Johan den Dunnen
?/? 5i c.347+20C>G r.(=) p.(=) - VUS g.31821256C>G g.31247119C>G - - B3GLCT_000010 - - - - Unknown - 2/3 - 0 - Martine van Belzen
?/? 5i c.347+20C>G r.(=) p.(=) - VUS g.31821256C>G g.31247119C>G - - B3GLCT_000010 - - - rs9542307 Unknown - - - 0 - Johan den Dunnen
?/. 5i c.347+20C>G r.(=) p.(=) - VUS g.31821256C>G g.31247119C>G - - B3GLCT_000010 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
?/. 5i c.347+20C>G r.(=) p.(=) - VUS g.31821256C>G g.31247119C>G - - B3GLCT_000010 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
?/. 5i c.347+20C>G r.(=) p.(=) - VUS g.31821256C>G g.31247119C>G - - B3GLCT_000010 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
-/. - c.347+20C>G r.(=) p.(=) - benign g.31821256C>G g.31247119C>G B3GLCT(NM_194318.3):c.347+20C>G - B3GLCT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.347+20C>G r.(=) p.(=) - benign g.31821256C>G g.31247119C>G B3GLCT(NM_194318.3):c.347+20C>G - B3GLCT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? 6 c.348C>T r.(?) p.(=) (p.His116) - VUS g.31821992C>T g.31247855C>T - - B3GLCT_000012 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown - 0/6 - 0 - Martine van Belzen
?/? 6 c.348C>T r.(?) p.(=) - VUS g.31821992C>T g.31247855C>T - - B3GLCT_000012 dbSNP: 0.02 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - rs4943266 Unknown - - - 0 - Johan den Dunnen
?/. 6 c.348T>C r.(=) p.(=) - VUS g.31821992T>C g.31247855T>C - - B3GLCT_000039 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
?/. 6 c.348T>C r.(=) p.(=) - VUS g.31821992T>C g.31247855T>C - - B3GLCT_000039 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
-/. - c.348T>C r.(?) p.(His116=) - benign g.31821992T>C g.31247855T>C B3GLCT(NM_194318.3):c.348T>C (p.H116=) - B3GLCT_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.348T>C r.(?) p.(His116=) - benign g.31821992T>C g.31247855T>C B3GLCT(NM_194318.3):c.348T>C (p.H116=) - B3GLCT_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - 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
+?/+? 6i c.459+1G>A r.spl? p.? - likely pathogenic g.31822104G>A g.31247967G>A 1020+1G>A - B3GLCT_000031 - PubMed: Reis 2008 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/? 6i c.459+1G>A r.spl? p.? - pathogenic g.31822104G>A g.31247967G>A - - B3GLCT_000031 - PubMed: Dassie-Ajdid 2009 - - Unknown - - - 0 - Johan den Dunnen
+/. - 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
?/? 7i c.596+50del r.(=) p.(=) - VUS g.31835269del g.31261132del - - B3GLCT_000013 - - - - Unknown - 2/3 - 0 - Martine van Belzen
?/? 7i c.596+50del r.(=) p.(=) - VUS g.31835269del g.31261132del - - B3GLCT_000013 - - - rs34409451 Unknown - - - 0 - Johan den Dunnen
?/? 7i c.597-23del r.(=) p.(=) - VUS g.31843328del g.31269191del - - B3GLCT_000014 - - - - Unknown - - - 0 - Martine van Belzen
?/? 7i c.597-23del r.(=) p.(=) - VUS g.31843328del g.31269191del - - B3GLCT_000014 rs35261337 - - rs3215787 Unknown - - - 0 - Johan den Dunnen
+/+ 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 - - Germline - - - 0 - Martine van Belzen
+/+ 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 - - Germline - - - 0 - Martine van Belzen
+/+ 8i c.660+1G>A r.spl? p.? - pathogenic g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006, PubMed: Hess 2008 - - Germline - - - 0 - Martine van Belzen
+/+ 8i c.660+1G>A r.spl? p.? - pathogenic g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - Martine van Belzen
?/? 8i c.660+1G>A r.spl? p.? - VUS g.31843415G>A g.31269278G>A - - B3GLCT_000002 - - - rs80338851 Unknown - - - 0 - Johan den Dunnen
+/? 8i c.660+1G>A r.spl? p.? - pathogenic g.31843415G>A g.31269278G>A - - B3GLCT_000002 - PubMed: Dassie-Ajdid 2009 - - Unknown - - - 0 - Johan den Dunnen
?/. 8i c.660+1G>A r.(=) p.(=) - VUS g.31843415G>A g.31269278G>A - - B3GLCT_000002 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 8i c.660+1G>A r.spl? p.? - pathogenic g.31843415G>A g.31269278G>A - - B3GLCT_000002 Founder mutation - - rs80338851 Germline yes - - 0 - Karen Stals
+/. - c.660+1G>A r.spl? p.? - pathogenic g.31843415G>A g.31269278G>A B3GALTL(NM_194318.3):c.660+1G>A (p.?), B3GLCT(NM_194318.3):c.660+1G>A - B3GLCT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.660+1G>A r.spl? p.? - pathogenic g.31843415G>A g.31269278G>A B3GALTL(NM_194318.3):c.660+1G>A (p.?), B3GLCT(NM_194318.3):c.660+1G>A - B3GLCT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.660+1G>A r.spl? p.? - pathogenic g.31843415G>A g.31269278G>A B3GALTL(NM_194318.3):c.660+1G>A (p.?), B3GLCT(NM_194318.3):c.660+1G>A - B3GLCT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.660+1G>A r.spl? p.? - pathogenic g.31843415G>A - B3GALTL(NM_194318.3):c.660+1G>A (p.?), B3GLCT(NM_194318.3):c.660+1G>A - B3GLCT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 9 c.672C>T r.(=) p.(=) - VUS g.31848657C>T g.31274520C>T - - B3GLCT_000015 - - - - Unknown - 1/6 - 0 - Martine van Belzen
?/? 9 c.672C>T r.(=) p.(=) - VUS g.31848657C>T g.31274520C>T - - B3GLCT_000015 dbSNP: 0.05 - - rs35019745 Unknown - - - 0 - Johan den Dunnen
?/? 9 c.733G>A r.(?) p.(Val245Met) - VUS g.31848718G>A g.31274581G>A - - B3GLCT_000026 - - - - Unknown - - - 0 - Martine van Belzen
?/? 9 c.733G>A r.(?) p.(Val245Met) - VUS g.31848718G>A g.31274581G>A - - B3GLCT_000026 - - - rs34830061 Unknown - - - 0 - Johan den Dunnen
-?/. - c.733G>A r.(?) p.(Val245Met) - likely benign g.31848718G>A g.31274581G>A B3GALTL(NM_194318.3):c.733G>A (p.(Val245Met)) - B3GLCT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 9i c.780+58A>G r.(=) p.(=) - VUS g.31848823A>G g.31274686A>G - - B3GLCT_000016 - - - - Unknown - 3/6 - 0 - Martine van Belzen
?/? 9i c.780+58A>G r.(=) p.(=) - VUS g.31848823A>G g.31274686A>G - - B3GLCT_000016 dbSNP: 0.19 - - rs728930 Unknown - - - 0 - Johan den Dunnen
?/. 9i c.780+58A>G r.(=) p.(=) - VUS g.31848823A>G g.31274686A>G - - B3GLCT_000016 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen
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