Full data view for gene CBS

A gene variant database curated by the Kraus Lab.
Information The variants shown are described using the NM_000071.2 transcript reference sequence.

997 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 12 c.[1105C>T;1471C>T] - NA - p.[Arg369Cys;Arg491Cys] Unknown g.[44476994G>A;44480591G>A] g.[43056884G>A;43060481G>A] - - CBS_000064 expression cloning in E.coli, CBs activity 0.10 Kluijtmans 1998, PhD thesis - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. _1 c.(-3469_-3466del) CTTT[5] benign r.(=) p.(=) Unknown g.44499261_44499264del - -3469_-3466del -6921TTTC - CBS_000056 - PubMed: Kraus 1998 - - Germline - 20/30 chromosomes - 0 - DNA PCR, SEQ - - Healthy/Control controls PubMed: Kraus 1998 screened 15 controls - - - Europe - 0 - - 1 Johan den Dunnen
+/. 5 c.[172C>T;341C>T] - NA - p.[Arg58Trp;Ala114Val] Unknown g.[44486463G>A;44492132G>A] g.[43066353G>A;43072022G>A] - - CBS_000057 expression cloning in E.coli, CBs activity 0.013 PubMed: de Franchis 1999 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.[233C>G;306G>C] - NA - p.[Pro78Arg;Lys12Asn] Unknown g.[44488629C>G;44488702G>C] g.[43068519C>G;43068592G>C] - - CBS_000058 expression cloning in E.coli, CBs activity 0 PubMed: de Franchis 1994 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.[374G>A;393G>C] - NA - p.[Arg125Gln;Glu131Asp] Unknown g.[44486411C>G;44486430C>T] g.[43066301C>G;43066320C>T] - - CBS_000059 expression cloning in E.coli, CBs activity 0.015 PubMed: Marble 1994 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.[430G>A;1316G>A] - NA - p.[Glu144Lys;Arg439Gln] Unknown g.[44478986C>T;44486374C>T] g.[43058876C>T;43066264C>T] - - CBS_000060 expression cloning in E.coli, CBs activity <0.01 PubMed: Dawson 1997 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.19dup - pathogenic r.(?) p.(Gln7Profs*30) Both (homozygous) g.44492285dup g.43072175dup 19insC - CBS_000218 - PubMed: Kozich 1997 - - Germline - - - 0 - DNA SEQ - - CBSD 419 PubMed: Kozich 1997 - - - Slovakia (Slovak Republic) - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.19dup - pathogenic r.(?) p.(Gln7Profs*30) Parent #1 g.44492285dup g.43072175dup 19insC - CBS_000218 - PubMed: Kozich 1997 - - Germline - - - 0 - DNA SEQ - - CBSD Pat PubMed: Kozich 1997 - - - Slovakia (Slovak Republic) - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.19dup - pathogenic r.(?) p.(Gln7Profs*30) Both (homozygous) g.44492285dup g.43072175dup 19insC - CBS_000218 CBS activity 0.46 nM/mg/h PubMed: Janosik 2001 - - Germline - - - 0 - DNA SEQ - - CBSD Pat3 PubMed: Janosik 2001 - F - Slovakia (Slovak Republic) - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.19dup - pathogenic r.(?) p.(Gln7Profs*30) Parent #2 g.44492285dup g.43072175dup 19insC - CBS_000218 CBS activity 0.33 nM/mg/h PubMed: Janosik 2001, PubMed: Linnebank 2004 - - Germline - - - 0 - DNA SEQ - - CBSD Pat9 PubMed: Janosik 2001, PubMed: Linnebank 2004 - F - Slovakia (Slovak Republic) - - 0 - partially pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.19dup - pathogenic r.(?) p.(Gln7Profs*30) Unknown g.44492285dup g.43072175dup 19insC - CBS_000218 - PubMed: Gaustadnes 2002 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - Lebanon - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.19dup - pathogenic r.(?) p.(Gln7Profs*30) Unknown g.44492285dup g.43072175dup 19insC - CBS_000218 - PubMed: Gaustadnes 2002 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - Lebanon - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.19dup - pathogenic r.(?) p.(Gln7Profs*30) Unknown g.44492285dup g.43072175dup - - CBS_000218 - PubMed: Sokolova 2001 - - Germline - 3/9770000 chromosomes - 0 - DNA SEQ - - Healthy/Control - PubMed: Sokolova 2001 biochemical screen 4885000 individuals - - Czech Republic;Slovenia - - 0 - - 3 Johan den Dunnen
+/. 3 c.28del - pathogenic r.(?) p.(Val10Trpfs*72) Parent #2 g.44492276del g.43072166del 28delG - CBS_000217 - PubMed: Janosik 2001 - - Germline - - - 0 - DNA SEQ - - CBSD Pat8 (sib10) PubMed: Janosik 2001 - M - Czech Republic - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.28del - pathogenic r.(?) p.(Val10Trpfs*72) Parent #2 g.44492276del g.43072166del 28delG - CBS_000217 CBS activity 0.03 nM/mg/h PubMed: Janosik 2001 - - Germline - - - 0 - DNA SEQ - - CBSD Pat10 (sib8) PubMed: Janosik 2001 - M - Czech Republic - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.28del - pathogenic r.(?) p.(Val10Trpfs*72) Unknown g.44492276del g.43072166del 28delG - CBS_000217 - PubMed: Sokolova 2001 - - Germline - 1/9770000 chromosomes - 0 - DNA SEQ - - Healthy/Control - PubMed: Sokolova 2001 biochemical screen 4885000 individuals - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.28del - likely pathogenic r.(?) p.(Val10Trpfs*72) Unknown g.44492276del - CBS(NM_001178008.2):c.28delG (p.V10Wfs*72) - CBS_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52C>T - benign r.(?) p.(Arg18Cys) Unknown g.44492252G>A - CBS(NM_000071.2):c.52C>T (p.R18C), CBS(NM_001178008.2):c.52C>T (p.R18C) - CBS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.52C>T - benign r.(?) p.(Arg18Cys) Unknown g.44492252G>A - CBS(NM_000071.2):c.52C>T (p.R18C), CBS(NM_001178008.2):c.52C>T (p.R18C) - CBS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. ? c.52C>T - benign r.(?) p.(Arg18Cys) Unknown g.44492252G>A g.43072142G>A - - CBS_000030 - PubMed: Lee 2005 - - Germline - - - 0 - DNA SEQ - - CBSD Pat1 PubMed: Lee 2005 newborn screening - - Korea - - 0 - - 1 Johan den Dunnen
+/. 3 c.103G>A - pathogenic r.(?) p.(Asp35Asn) Parent #1 g.44492201C>T g.43072091C>T 103G>A;129G>A - CBS_000216 - PubMed: Katsushima 2006 - - Germline - - - 0 - DNA SEQ - - CBSD Pat6 PubMed: Katsushima 2006 newborn screening - - Japan - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.129G>A - pathogenic r.(?) p.(Trp43*) Parent #1 g.44492175C>T g.43072065C>T 103G>A;129G>A - CBS_000215 - PubMed: Katsushima 2006 - - Germline - - - 0 - DNA SEQ - - CBSD Pat6 PubMed: Katsushima 2006 newborn screening - - Japan - - 0 - not pyridoxine responsive 1 Johan den Dunnen
?/. - c.133C>T - VUS r.(?) p.(Arg45Trp) Unknown g.44492171G>A - CBS(NM_001178008.2):c.133C>T (p.R45W) - CBS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.141T>A - pathogenic r.(?) p.(Asp47Glu) Both (homozygous) g.44492163A>T g.43072053A>T - - CBS_000214 - PubMed: Cheng 2007 - - Germline - - - 0 - DNA SEQ - - CBSD Pat PubMed: Cheng 2007 - M - - - - 0 - - 1 Johan den Dunnen
?/. - c.146C>T - VUS r.(?) p.(Pro49Leu) Unknown g.44492158G>A - CBS(NM_001178008.2):c.146C>T (p.P49L) - CBS_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.146C>T - pathogenic r.(?) p.(Pro49Leu) Unknown g.44492158G>A g.43072048G>A - - CBS_000052 - PubMed: Gaustadnes 2002 - - Germline - - DdeI+ 0 - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.146C>T - pathogenic r.(?) p.(Pro49Leu) Parent #2 g.44492158G>A g.43072048G>A - - CBS_000052 - PubMed: Evangelisti 2008 - - Germline - - DdeI+ 0 - DNA, RNA RT-PCR, SEQ - - CBSD Pat4 PubMed: Evangelisti 2008 - - - Italy - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.146C>T - pathogenic r.(?) p.(Pro49Leu) Unknown g.44492158G>A g.43072048G>A - - CBS_000052 - PubMed: Cozar 2011 - - Germline - - DdeI+ 0 - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 3 c.146C>T - pathogenic r.(?) p.(Pro49Leu) Unknown g.44492158G>A g.43072048G>A - - CBS_000052 - PubMed: Cozar 2011 - - Germline - - DdeI+ 0 - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. ? c.146C>T - pathogenic r.(?) p.(Pro49Leu) Parent #1 g.44492158G>A g.43072048G>A - - CBS_000052 - PubMed: de Franchis 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat5 (VP) PubMed: de Franchis 1998 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. ? c.146C>T - pathogenic r.(?) p.(Pro49Leu) Maternal (confirmed) g.44492158G>A g.43072048G>A - - CBS_000052 - PubMed: Sperandeo 1995 - - Germline - - - 0 - DNA SEQ - - CBSD Pat2 PubMed: Sperandeo 1995 - - - Italy 2 carrier brothers - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.172C>T - NA - p.Arg58Trp Unknown g.44492132G>A g.43072022G>A - - CBS_000213 expression cloning in E.coli, CBs activity 0.013 PubMed: de Franchis 1999 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.172C>T - pathogenic r.(?) p.(Arg58Trp) Parent #1 g.44492132G>A g.43072022G>A - - CBS_000213 - PubMed: de Franchis 1999, PubMed: Kraus 1999 - - Germline - - - 0 - DNA SEQ - - CBSD GT (2241) PubMed: de Franchis 1999, PubMed: Kraus 1999 - - - Italy - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. ? c.172C>T - pathogenic r.(?) p.(Arg58Trp) Parent #2 g.44492132G>A g.43072022G>A - - CBS_000213 - PubMed: de Franchis 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat6 PubMed: de Franchis 1998 - - - Italy - - 0 - not pyridoxine responsive 1 Johan den Dunnen
?/. - c.172C>T - VUS r.(?) p.(Arg58Trp) Unknown g.44492132G>A - CBS(NM_001178008.2):c.172C>T (p.R58W) - CBS_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.194A>C - pathogenic r.(?) p.(His65Pro) Unknown g.44492110T>G g.43072000T>G - - CBS_000212 - CBS mutation database, Linnebank - - Germline - - - 0 - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.194A>G - pathogenic r.(?) p.(His65Arg) Unknown g.44492110T>C g.43072000T>C - - CBS_000211 - PubMed: Chen 1999 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Chen 1999 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.194A>G - pathogenic r.(?) p.(His65Arg) Parent #1 g.44492110T>C g.43072000T>C - - CBS_000211 CBS activity 0.02 nM/mg/h; no variant 2nd allele identified PubMed: Janosik 2001 - - Germline - - - 0 - DNA SEQ - - CBSD Pat11 PubMed: Janosik 2001 - M - Czech Republic - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3 c.194A>G - pathogenic r.(?) p.(His65Arg) Unknown g.44492110T>C g.43072000T>C - - CBS_000211 - CBS mutation database, Linnebank - - Germline - - - 0 - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 3_3i c.208_209+8del - pathogenic r.spl p.0? Parent #1 g.44492087_44492096del g.43071977_43071986del 69_70+8del - CBS_000209 - PubMed: Urreizti 2006 - - Germline - - FokI+ 0 - DNA SEQ - - CBSD Pat64 PubMed: Urreizti 2006 - - - Argentina - - 0 - - 1 Johan den Dunnen
+/. 3i c.209+1G>A - pathogenic r.[-8_209del,153_209del] p.? Maternal (confirmed) g.44492094C>T g.43071984C>T - - CBS_000029 - PubMed: Gordon 1997 - - Germline - - - 0 - DNA SEQ - - CBSD Pat1 PubMed: Gordon 1997 - - - England;Wales - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3i c.209+1G>A - pathogenic r.[153_209del,-8_209del] p.? Unknown g.44492094C>T g.43071984C>T IVS1+1G>A - CBS_000029 - CBS mutation database, Linnebank - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CBSD - CBS mutation database, Linnebank - - - Brazil - - 0 - - 1 Johan den Dunnen
+/. 3i c.209+1G>A - pathogenic r.[153_209del,-8_209del] p.? Unknown g.44492094C>T g.43071984C>T IVS1+1G>A - CBS_000029 - PubMed: Gaustadnes 2002 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3i c.209+1G>A - pathogenic r.[153_209del,-8_209del] p.? Parent #2 g.44492094C>T g.43071984C>T IVS1+1G>A - CBS_000029 - PubMed: Urreizti 2003 - - Germline - - - 0 - DNA SEQ - - CBSD Pat15 PubMed: Urreizti 2003 - - - Spain - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3i c.209+1G>A - pathogenic r.[153_209del,-8_209del] p.? Unknown g.44492094C>T g.43071984C>T IVS1+1G>A - CBS_000029 - CBS mutation database, Linnebank - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CBSD - CBS mutation database, Linnebank - - - Germany - - 0 - partially pyridoxine responsive 1 Johan den Dunnen
+/. 3i c.209+1_209+2insC - pathogenic r.spl p.? Unknown g.44492093_44492094insG g.43071983_43071984insG IVS1+1insC - CBS_000210 - PubMed: Gaustadnes 2002 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 3i c.210-1G>C - pathogenic r.spl p.? Parent #1 g.44488726C>G g.43068616C>G IVS1-1G>C - CBS_000208 - PubMed: Janosik 2001 - - Germline - - - 0 - DNA SEQ - - CBSD Pat8 (sib10) PubMed: Janosik 2001 - M - Czech Republic - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3i c.210-1G>C - pathogenic r.spl p.? Parent #1 g.44488726C>G g.43068616C>G IVS1-1G>C - CBS_000208 CBS activity 0.03 nM/mg/h PubMed: Janosik 2001 - - Germline - - - 0 - DNA SEQ - - CBSD Pat10 (sib8) PubMed: Janosik 2001 - M - Czech Republic - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 3i c.210-1G>C - pathogenic r.spl p.? Unknown g.44488726C>G g.43068616C>G IVS2-1G>C - CBS_000208 - PubMed: Sokolova 2001 - - Germline - 1/9770000 chromosomes - 0 - DNA SEQ - - Healthy/Control - PubMed: Sokolova 2001 biochemical screen 4885000 individuals - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.233C>G - NA - p.Pro78Arg Unknown g.44488702G>C g.43068592G>C - - CBS_000207 expression cloning in E.coli, CBs activity 0.126-0.609 PubMed: de Franchis 1994 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.233C>G - pathogenic r.233c>g p.Pro78Arg Paternal (confirmed) g.44488702G>C g.43068592G>C - - CBS_000207 both 0,5 activity PubMed: de Franchis 1994 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CBSD PatWC/TC/MC PubMed: de Franchis 1994 - - - Ireland Irish - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.233C>G - pathogenic r.233c>g p.Pro78Arg Paternal (confirmed) g.44488702G>C g.43068592G>C - - CBS_000207 both 0,5 activity PubMed: de Franchis 1994 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CBSD PatTC PubMed: de Franchis 1994 family, 3 affected sibs - - Ireland Irish - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.253G>A - pathogenic r.(?) p.(Gly85Arg) Parent #2 g.44488682C>T g.43068572C>T - - CBS_000206 - PubMed: Maclean 2002 - - Germline - - - 0 - DNA SEQ - - CBSD Pat1 PubMed: Maclean 2002 - F - Denmark - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.253G>A - pathogenic r.(?) p.(Gly85Arg) Both (homozygous) g.44488682C>T g.43068572C>T - - CBS_000206 - PubMed: De Lucca 2004 - - Germline - - - 0 - DNA SEQ - - CBSD Pat390/1110 PubMed: De Lucca 2004 - - - Venezuela - - 0 - partially pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.253G>A - pathogenic r.(?) p.(Gly85Arg) Unknown g.44488682C>T g.43068572C>T - - CBS_000206 - CBS mutation database, De Lucca - - Germline - - - 0 - DNA SEQ - - CBSD - CBS mutation database, De Lucca - - - Venezuela - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.253G>A - pathogenic r.(?) p.(Gly85Arg) Unknown g.44488682C>T g.43068572C>T - - CBS_000206 - PubMed: Cozar 2011 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Argentina - - 0 - - 1 Johan den Dunnen
+/. 4 c.253G>A - pathogenic r.(?) p.(Gly85Arg) Unknown g.44488682C>T g.43068572C>T - - CBS_000206 - PubMed: Cozar 2011 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Cozar 2011 - - - Argentina - - 0 - - 1 Johan den Dunnen
+/. ? c.253G>A - pathogenic r.(?) p.(Gly85Arg) Parent #1 g.44488682C>T g.43068572C>T - - CBS_000206 - PubMed: Kraus 1999, M Gaustadnes - - Germline - - - 0 - DNA SEQ - - CBSD EH PubMed: Kraus 1999, M Gaustadnes - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.256del - pathogenic r.(?) p.(Asp86Thrfs*16) Unknown g.44488679del g.43068569del G253del - CBS_000205 - CBS mutation database, Linnebank - - Germline - - - 0 - DNA SEQ - - CBSD - CBS mutation database, Linnebank - - - Brazil - - 0 - - 1 Johan den Dunnen
+/. 4 c.260C>A - pathogenic r.(?) p.(Thr87Asn) Unknown g.44488675G>T g.43068565G>T - - CBS_000204 - CBS mutation database, De Lucca - - Germline - - MslI- 0 - DNA SEQ - - CBSD - CBS mutation database, De Lucca - - - Venezuela - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.262C>T - pathogenic r.(?) p.(Pro88Ser) Parent #2 g.44488673G>A g.43068563G>A - - CBS_000203 - PubMed: Sebastio 1995 - - Germline - - MnlI+ 0 - DNA SEQ - - CBSD Pat3a (SS) PubMed: Sebastio 1995 family, 3 affected - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. ? c.262C>T - pathogenic r.(?) p.(Pro88Ser) Parent #2 g.44488673G>A g.43068563G>A - - CBS_000203 - PubMed: de Franchis 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat3 PubMed: de Franchis 1998 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. ? c.262C>T - pathogenic r.(?) p.(Pro88Ser) Parent #2 g.44488673G>A g.43068563G>A - - CBS_000203 - PubMed: Sebastio 1995 - - Germline - - MnlI+ 0 - DNA SEQ - - CBSD Pat3b (SR) PubMed: Sebastio 1995 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. ? c.262C>T - pathogenic r.(?) p.(Pro88Ser) Parent #2 g.44488673G>A g.43068563G>A - - CBS_000203 - PubMed: Sebastio 1995 - - Germline - - MnlI+ 0 - DNA SEQ - - CBSD Pat3c (SG) PubMed: Sebastio 1995 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.302T>C - pathogenic r.(?) p.(Leu101Pro) Parent #1 g.44488633A>G g.43068523A>G - - CBS_000202 no variant 2nd allele identified PubMed: Gallagher 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat005 PubMed: Gallagher 1998 - - - Ireland Irish - 0 - - 1 Johan den Dunnen
+/. 4 c.302T>C - pathogenic r.(?) p.(Leu101Pro) Both (homozygous) g.44488633A>G g.43068523A>G - - CBS_000202 - PubMed: Gallagher 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat245/248 (sibs) PubMed: Gallagher 1998 - - - Ireland Irish - 0 - - 1 Johan den Dunnen
+/. 4 c.302T>C - pathogenic r.(?) p.(Leu101Pro) Parent #2 g.44488633A>G g.43068523A>G - - CBS_000202 - PubMed: Gallagher 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat040 (cousin of 245/248 PubMed: Gallager 1998 - - - Ireland Irish - 0 - - 1 Johan den Dunnen
+/. 4 c.302T>C - pathogenic r.(?) p.(Leu101Pro) Unknown g.44488633A>G g.43068523A>G - - CBS_000202 - PubMed: Gaustadnes 2002 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.302T>C - pathogenic r.(?) p.(Leu101Pro) Parent #1 g.44488633A>G g.43068523A>G - - CBS_000202 - PubMed: Kruger 2003 - - Germline - - - 0 - DNA SEQ - - CBSD Pat6 PubMed: Kruger 2003 - - - - white - 0 - not pyridoxine responsive 1 Johan den Dunnen
?/. 4 c.304A>C - - r.(?) p.(Lys102Gln) Unknown g.44488631T>G g.43068521T>G - - CBS_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.304A>C - likely benign r.(?) p.(Lys102Gln) Unknown g.44488631T>G - CBS(NM_000071.2):c.304A>C (p.K102Q) - CBS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.304A>C - benign r.(?) p.(Lys102Gln) Unknown g.44488631T>G - CBS(NM_000071.2):c.304A>C (p.K102Q) - CBS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.304A>C - pathogenic r.(?) p.(Lys102Gln) Both (homozygous) g.44488631T>G g.43068521T>G - - CBS_000001 - PubMed: Kozich 1997 - - Germline - - PstI+ 0 - DNA SEQ - - CBSD 3149 PubMed: Kozich 1997 - - - - Arab - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.304A>C - pathogenic r.(?) p.(Lys102Gln) Parent #1 g.44488631T>G g.43068521T>G 304A>C;IVS4-29del129 - CBS_000001 - CBS mutation database, Linnebank - - Germline - - PstI+ 0 - DNA SEQ - - CBSD Pat CBS mutation database, Linnebank - - - Israel - - 0 - - 1 Johan den Dunnen
+/. 4 c.304A>C - pathogenic r.(?) p.(Lys102Gln) Parent #1 g.44488631T>G g.43068521T>G 304A>C;IVS4-29del129 - CBS_000001 - CBS mutation database, Linnebank - - Germline - - PstI+ 0 - DNA SEQ - - CBSD Pat CBS mutation database, Linnebank - - - Israel - - 0 - - 1 Johan den Dunnen
+/. 4 c.306G>C - NA - p.Lys12Asn Unknown g.44488629C>G g.43068519C>G - - CBS_000201 expression cloning in E.coli, CBs activity 0.333-0.387 PubMed: de Franchis 1994 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.306G>C - pathogenic r.306g>c p.Lys102Asn Paternal (confirmed) g.44488629C>G g.43068519C>G - - CBS_000201 both 0,5 activity PubMed: de Franchis 1994 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CBSD PatWC/TC/MC PubMed: de Franchis 1994 - - - Ireland Irish - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.306G>C - pathogenic r.306g>c p.Lys102Asn Paternal (confirmed) g.44488629C>G g.43068519C>G - - CBS_000201 both 0,5 activity PubMed: de Franchis 1994 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CBSD PatTC PubMed: de Franchis 1994 family, 3 affected sibs - - Ireland Irish - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 4 c.313_316del - pathogenic r.(?) p.(Leu105Trpfs*13) Parent #2 g.44488619_44488622del g.43068509_43068512del - - CBS_000200 - PubMed: Kraus 1999, V Shih - - Germline - - - 0 - DNA SEQ - - CBSD MGL199 (DM) PubMed: Kraus 1999, V Shih - - - Canada France;United Kingdom (Great Britain) - 0 - not pyridoxine responsive 1 Johan den Dunnen
-/. - c.316+728C>T - benign r.(=) p.(=) Unknown g.44487891G>A - CBS(NM_000071.2):c.316+728C>T - CBS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.325T>C - pathogenic r.(?) p.(Cys109Arg) Unknown g.44486479A>G - CBS(NM_001321072.1):c.10T>C (p.C4R) - CBS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.325T>C - pathogenic r.(?) p.(Cys109Arg) Unknown g.44486479A>G g.43066369A>G - - CBS_000051 - PubMed: Gaustadnes 2002 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.325T>C - pathogenic r.(?) p.(Cys109Arg) Unknown g.44486479A>G g.43066369A>G - - CBS_000051 - PubMed: Gaustadnes 2002 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.325T>C - pathogenic r.(?) p.(Cys109Arg) Unknown g.44486479A>G g.43066369A>G - - CBS_000051 - PubMed: Gaustadnes 2002 - - Germline - - - 0 - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.341C>T - NA - p.Ala114Val Unknown g.44486463G>A g.43066353G>A - - CBS_000199 expression cloning in E.coli, CBs activity 0-0.545 PubMed: Kozich 1993, PubMed: de Franchis 1999 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Parent #1 g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: de Franchis 1999, PubMed: Kraus 1999 - - Germline - - MaeII+ 0 - DNA SEQ - - CBSD GT (2241) PubMed: de Franchis 1999, PubMed: Kraus 1999 - - - Italy - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Parent #1 g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: Kozich 1993 - - Germline - - MaeII+ 0 - DNA SEQ - - CBSD Pat676 PubMed: Kozich 1993 - F - Ireland;Germany activity 0-0.20 - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Unknown g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: de Franchis 1999 - - Germline - - MaeII+ 0 - DNA SEQ - - CBSD - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Unknown g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: de Franchis 1999 - - Germline - - MaeII+ 0 - DNA SEQ - - CBSD - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Unknown g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: de Franchis 1999 - - Germline - - MaeII+ 0 - DNA SEQ - - CBSD - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Unknown g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: de Franchis 1999 - - Germline - - MaeII+ 0 - DNA SEQ - - CBSD - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Parent #2 g.44486463G>A g.43066353G>A - - CBS_000199 CBS activity 0.13 nM/mg/h PubMed: Janosik 2001 - - Germline - - - 0 - DNA SEQ - - CBSD Pat18 PubMed: Janosik 2001 - M - Czech Republic - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Parent #1 g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: de Franchis 1999, PubMed: Kraus 1999 - - Germline - - MaeII+ 0 - DNA SEQ - - CBSD AnD (sib 2242) PubMed: de Franchis 1999, PubMed: Kraus 1999 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Unknown g.44486463G>A g.43066353G>A - - CBS_000199 - CBS mutation database, Kraus - - Germline - - MaeII+ 0 - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Parent #1 g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: Urreizti 2006 - - Germline - - FokI+ 0 - DNA SEQ - - CBSD Pat38 PubMed: Urreizti 2006 - - - Argentina - - 0 - - 1 Johan den Dunnen
+/. 5 c.341C>T - pathogenic r.(?) p.(Ala114Val) Parent #2 g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: Katsushima 2006 - - Germline - - MaeII+ 0 - DNA SEQ - - CBSD Pat3 PubMed: Katsushima 2006 newborn screening - - Japan - - 0 - - 1 Johan den Dunnen
+/. ? c.341C>T - pathogenic r.(?) p.(Ala114Val) Parent #1 g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: de Franchis 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat6 PubMed: de Franchis 1998 - - - Italy - - 0 - not pyridoxine responsive 1 Johan den Dunnen
+/. ? c.341C>T - pathogenic r.(?) p.(Ala114Val) Both (homozygous) g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: de Franchis 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat7 PubMed: de Franchis 1998 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. ? c.341C>T - pathogenic r.(?) p.(Ala114Val) Parent #1 g.44486463G>A g.43066353G>A - - CBS_000199 - PubMed: de Franchis 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat8 PubMed: de Franchis 1998 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
+/. ? c.341C>T - pathogenic r.(?) p.(Ala114Val) Parent #1 g.44486463G>A g.43066353G>A - - CBS_000199 no var allele 2 PubMed: de Franchis 1998 - - Germline - - - 0 - DNA SEQ - - CBSD Pat9 PubMed: de Franchis 1998 - - - Italy - - 0 - pyridoxine responsive 1 Johan den Dunnen
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