Unique variants in the CBS gene

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

219 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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 12 c.[1105C>T;1471C>T] - - p.[Arg369Cys;Arg491Cys] - NA 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) - - - - - Johan den Dunnen
-/. 1 _1 c.(-3469_-3466del) CTTT[5] r.(=) p.(=) - benign g.44499284_44499287del g.43079174_43079177del -3469_-3466del -6921TTTC - CBS_000056 - PubMed: Kraus 1998 - - Germline - 20/30 chromosomes - - - Johan den Dunnen
+/. 1 5 c.[172C>T;341C>T] - - p.[Arg58Trp;Ala114Val] - NA 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) - - - - - Johan den Dunnen
+/. 1 4 c.[233C>G;306G>C] - - p.[Pro78Arg;Lys12Asn] - NA 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) - - - - - Johan den Dunnen
+/. 1 5 c.[374G>A;393G>C] - - p.[Arg125Gln;Glu131Asp] - NA 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) - - - - - Johan den Dunnen
+/. 1 5 c.[430G>A;1316G>A] - - p.[Glu144Lys;Arg439Gln] - NA 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) - - - - - Johan den Dunnen
+/. 7 3 c.19dup - r.(?) p.(Gln7Profs*30) - pathogenic g.44492290dup g.43072180dup 19insC - CBS_000218 CBS activity 0.46 nM/mg/h, CBS activity 0.33 nM/mg/h PubMed: Gaustadnes 2002, PubMed: Kozich 1997, PubMed: Janosik 2001, PubMed: Sokolova 2001, 1 more item - - Germline - 3/9770000 chromosomes - - - Johan den Dunnen
+?/., +/. 4 3 c.28del - r.(?) p.(Val10TrpfsTer72), p.(Val10Trpfs*72) - likely pathogenic, pathogenic g.44492276del g.43072166del CBS(NM_001178008.2):c.28delG (p.V10Wfs*72), 28delG - CBS_000217 VKGL data sharing initiative Nederland, CBS activity 0.03 nM/mg/h PubMed: Janosik 2001, PubMed: Sokolova 2001 - - CLASSIFICATION record, Germline - 1/9770000 chromosomes - - - VKGL-NL_Rotterdam, Johan den Dunnen
-/. 3 ? c.52C>T - r.(?) p.(Arg18Cys) - benign g.44492252G>A g.43072142G>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 PubMed: Lee 2005 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, Johan den Dunnen
+/. 1 3 c.103G>A - r.(?) p.(Asp35Asn) - pathogenic g.44492201C>T g.43072091C>T 103G>A;129G>A - CBS_000216 - PubMed: Katsushima 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.129G>A - r.(?) p.(Trp43*) - pathogenic g.44492175C>T g.43072065C>T 103G>A;129G>A - CBS_000215 - PubMed: Katsushima 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.133C>T - r.(?) p.(Arg45Trp) - VUS g.44492171G>A g.43072061G>A CBS(NM_001178008.2):c.133C>T (p.R45W) - CBS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 ? c.141T>A - r.(?) p.(Asp47Glu) - pathogenic g.44492163A>T g.43072053A>T - - CBS_000214 - PubMed: Cheng 2007 - - Germline - - - - - Johan den Dunnen
+/., ?/. 7 3, ? c.146C>T - r.(?) p.(Pro49Leu) - pathogenic, VUS g.44492158G>A g.43072048G>A CBS(NM_001178008.2):c.146C>T (p.P49L) - CBS_000052 VKGL data sharing initiative Nederland PubMed: Cozar 2011, PubMed: Gaustadnes 2002, PubMed: de Franchis 1998, PubMed: Sperandeo 1995, 1 more item - - Germline, CLASSIFICATION record - - DdeI+ - - Johan den Dunnen, VKGL-NL_Rotterdam
+/., ?/. 4 3, ? c.172C>T - r.(?) p.Arg58Trp, p.(Arg58Trp) - NA, VUS, pathogenic g.44492132G>A g.43072022G>A CBS(NM_001178008.2):c.172C>T (p.R58W) - CBS_000213 expression cloning in E.coli, CBs activity 0.013, VKGL data sharing initiative Nederland PubMed: de Franchis 1999, PubMed: de Franchis 1998, PubMed: de Franchis 1999, PubMed: Kraus 1999 - - In vitro (cloned), CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 3 c.194A>C - r.(?) p.(His65Pro) - pathogenic g.44492110T>G g.43072000T>G - - CBS_000212 - CBS mutation database, Linnebank - - Germline - - - - - Johan den Dunnen
+/. 3 3 c.194A>G - r.(?) p.(His65Arg) - pathogenic g.44492110T>C g.43072000T>C - - CBS_000211 CBS activity 0.02 nM/mg/h; no variant 2nd allele identified CBS mutation database, Linnebank, PubMed: Chen 1999, PubMed: Janosik 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 3_3i c.208_209+8del - r.spl p.0? - pathogenic g.44492089_44492098del g.43071979_43071988del 69_70+8del - CBS_000209 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - Johan den Dunnen
+/. 5 3i c.209+1G>A - r.[153_209del,-8_209del], r.[-8_209del,153_209del] p.? - pathogenic g.44492094C>T g.43071984C>T IVS1+1G>A - CBS_000029 - PubMed: Gaustadnes 2002, PubMed: Urreizti 2003, CBS mutation database, Linnebank, PubMed: Gordon 1997 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.209+1_209+2insC - r.spl p.? - pathogenic g.44492093_44492094insG g.43071983_43071984insG IVS1+1insC - CBS_000210 - PubMed: Gaustadnes 2002 - - Germline - - - - - Johan den Dunnen
+/. 3 3i c.210-1G>C - r.spl p.? - pathogenic g.44488726C>G g.43068616C>G IVS1-1G>C, IVS2-1G>C - CBS_000208 CBS activity 0.03 nM/mg/h PubMed: Janosik 2001, PubMed: Sokolova 2001 - - Germline - 1/9770000 chromosomes - - - Johan den Dunnen
-?/. 1 - c.215A>T - r.(?) p.(Lys72Ile) - likely benign g.44488720T>A - CBS(NM_000071.2):c.215A>T (p.(Lys72Ile)) - CBS_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 4 c.233C>G - r.(?), r.233c>g p.Pro78Arg - NA, pathogenic g.44488702G>C g.43068592G>C - - CBS_000207 expression cloning in E.coli, CBs activity 0.126-0.609, both 0,5 activity PubMed: de Franchis 1994 - - In vitro (cloned), Germline - - - - - Johan den Dunnen
+/. 7 4, ? c.253G>A - r.(?) p.(Gly85Arg) - pathogenic g.44488682C>T g.43068572C>T - - CBS_000206 1 heterozygous, no homozygous; Clinindb (India) PubMed: Cozar 2011, PubMed: Maclean 2002, Faruq 2020, submtted, PubMed: De Lucca 2004, 2 more items - rs863223435 Germline - 1/2792 individuals - - - Johan den Dunnen, Mohammed Faruq
+/. 1 4 c.256del - r.(?) p.(Asp86Thrfs*16) - pathogenic g.44488682del g.43068572del G253del - CBS_000205 - CBS mutation database, Linnebank - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.260C>A - r.(?) p.(Thr87Asn) - pathogenic g.44488675G>T g.43068565G>T - - CBS_000204 - CBS mutation database, De Lucca - - Germline - - MslI- - - Johan den Dunnen
+/. 4 ?, 4 c.262C>T - r.(?) p.(Pro88Ser) - pathogenic g.44488673G>A g.43068563G>A - - CBS_000203 - PubMed: de Franchis 1998, PubMed: Sebastio 1995 - - Germline - - MnlI+ - - Johan den Dunnen
+/. 5 4 c.302T>C - r.(?) p.(Leu101Pro) - pathogenic g.44488633A>G g.43068523A>G - - CBS_000202 no variant 2nd allele identified PubMed: Gaustadnes 2002, PubMed: Gallagher 1998, PubMed: Kruger 2003 - - Germline - - - - - Johan den Dunnen
-/., +/., ?/., -?/. 6 4 c.304A>C - r.(?) p.(Lys102Gln) - benign, pathogenic, VUS, likely benign g.44488631T>G g.43068521T>G CBS(NM_000071.2):c.304A>C (p.K102Q), 304A>C;IVS4-29del129 - CBS_000001 VKGL data sharing initiative Nederland PubMed: Kozich 1997, CBS mutation database, Linnebank - - CLASSIFICATION record, Germline - - PstI+ - - VKGL-NL_AMC, Johan den Dunnen, Gerard C.P. Schaafsma, VKGL-NL_Utrecht
+/. 3 4 c.306G>C - r.(?), r.306g>c p.Lys12Asn, p.Lys102Asn - NA, pathogenic g.44488629C>G g.43068519C>G - - CBS_000201 expression cloning in E.coli, CBs activity 0.333-0.387, both 0,5 activity PubMed: de Franchis 1994 - - In vitro (cloned), Germline - - - - - Johan den Dunnen
+/. 1 4 c.313_316del - r.(?) p.(Leu105Trpfs*13) - pathogenic g.44488619_44488622del g.43068509_43068512del - - CBS_000200 - PubMed: Kraus 1999, V Shih - - Germline - - - - - Johan den Dunnen
-/. 1 - c.316+728C>T - r.(=) p.(=) - benign g.44487891G>A g.43067781G>A CBS(NM_000071.2):c.316+728C>T, CBSL(NM_001354006.1):c.316+728C>T - CBS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 4 5 c.325T>C - r.(?) p.(Cys109Arg) - pathogenic g.44486479A>G g.43066369A>G CBS(NM_001321072.1):c.10T>C (p.C4R) - CBS_000051 VKGL data sharing initiative Nederland PubMed: Gaustadnes 2002 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 23 5, ? c.341C>T - r.(?) p.(Ala114Val), p.Ala114Val - pathogenic, NA g.44486463G>A g.43066353G>A - - CBS_000199 CBS activity 0.13 nM/mg/h, expression cloning in E.coli, CBs activity 0-0.545, no var allele 2, 1 more item PubMed: Janosik 2001, PubMed: Kozich 1993, PubMed: de Franchis 1999, PubMed: de Franchis 1998, 8 more items - - Germline, In vitro (cloned) - 1/9770000 chromosomes MaeII+, FokI+ - - Johan den Dunnen
+/. 8 ?, 5 c.346G>A - r.(?), r.346g>a p.(Gly116Arg), p.Gly116Arg - pathogenic g.44486458C>T g.43066348C>T - - CBS_000198 no var allele 2 PubMed: de Franchis 1998, Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1), 3 more items - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.361C>A - r.(?) p.(Arg121Ser) - pathogenic g.44486443G>T g.43066333G>T - - CBS_000197 - CBS mutation database, Linnebank - - Germline - - - - - Johan den Dunnen
+/. 4 5 c.361C>T - r.(?) p.(Arg121Cys) - pathogenic g.44486443G>A g.43066333G>A - - CBS_000196 - PubMed: Katsushima 2006, PubMed: Cozar 2011, CBS mutation database, Shih, PubMed: Kraus 1999, V Shih - - Germline - - - - - Johan den Dunnen
+/. 7 5 c.362G>A - r.(?) p.(Arg121His) - pathogenic g.44486442C>T g.43066332C>T - - CBS_000195 - PubMed: Katsushima 2006, PubMed: Kraus 1999, V Shih, PubMed: Urreizti 2006, PubMed: Bermudez 2006, 1 more item - - Germline - - FokI+ - - Johan den Dunnen
+/. 1 5 c.362G>T - r.(?) p.(Arg121Leu) - pathogenic g.44486442C>A g.43066332C>A - - CBS_000194 - PubMed: Kraus 1999, V Shih - - Germline - - - - - Johan den Dunnen
+/. 5 5 c.373C>T - r.(?) p.(Arg125Trp) - pathogenic g.44486431G>A g.43066321G>A - - CBS_000193 - PubMed: Urreizti 2003, CBS mutation database, Linnebank, PubMed: Kluijtmans 1999 - - Germline - - AciI- - - Johan den Dunnen
+/. 15 5, ? c.374G>A - r.(?), r.374g>a p.(Arg125Gln), p.Arg125Gln - pathogenic, NA g.44486430C>T g.43066320C>T G374A - CBS_000191 expression cloning in E.coli, CBs activity 0.019 CBS mutation database, Kraus, PubMed: Cozar 2011, PubMed: Gaustadnes 2002, PubMed: Marble 1994, 5 more items - - Germline, In vitro (cloned) - - PstI+ - - Johan den Dunnen
+/. 1 5 c.374G>C - r.(?) p.(Arg125Pro) - pathogenic g.44486430C>G g.43066320C>G - - CBS_000192 - PubMed: Castro 2001 - - Germline - - HpaII+ - - Johan den Dunnen
+/. 2 ?, 5 c.376A>G - r.(?) p.(Met126Val) - pathogenic g.44486428T>C g.43066318T>C - - CBS_000190 - PubMed: de Franchis 1998, PubMed: de Franchis 1999, PubMed: Kraus 1999 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.381T>G - r.(?) p.(Ile127Met) - VUS g.44486423A>C g.43066313A>C CBS(NM_000071.2):c.381T>G (p.(Ile127Met)) - CBS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 5 c.384G>C - r.(?) p.(Glu128Asp) - pathogenic g.44486420C>G g.43066310C>G - - CBS_000189 no variant 2nd allele identified PubMed: Coude 1998 - - Germline - - MulI-,FokI- - - Johan den Dunnen
+/. 2 5 c.393G>C - r.(?), r.393g>c p.Glu131Asp - NA, pathogenic g.44486411C>G g.43066301C>G - - CBS_000188 expression cloning in E.coli, CBs activity 0 PubMed: Marble 1994 - - In vitro (cloned), Germline - - - - - Johan den Dunnen
?/. 1 - c.400G>A - r.(?) p.(Gly134Arg) - VUS g.44486404C>T g.43066294C>T CBS(NM_001321072.1):c.85G>A (p.G29R) - CBS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.415G>A - r.(?) p.(Gly139Arg) - pathogenic g.44486389C>T g.43066279C>T - - CBS_000187 - PubMed: Shih 1995 - - Germline - - - - - Johan den Dunnen
+/. 3 5, ? c.429C>G - r.(?) p.(Ile143Met) - pathogenic g.44486375G>C g.43066265G>C - - CBS_000186 - PubMed: Orendae 2004, PubMed: Linnebank 2004 - - Germline - - TaqI- - - Johan den Dunnen
+/. 13 5 c.430G>A - r.(?) p.(Glu144Lys), p.Glu144Lys - pathogenic, NA g.44486374C>T g.43066264C>T - - CBS_000185 expression cloning in E.coli, CBs activity <0.01, CBS activity 0.00 nM/mg/h, 2 more items PubMed: Gaustadnes 2002, PubMed: Dawson 1997, PubMed: Shih 1995, PubMed: Gordon 1997, 4 more items - - Germline, In vitro (cloned) - 2/9770000 chromosomes TaqI- - - Johan den Dunnen
+/. 2 5 c.434C>T - r.(?) p.Pro145Leu, p.(Pro145Leu) - NA, pathogenic g.44486370G>A g.43066260G>A - - CBS_000184 expression cloning in E.coli, CBs activity 0 PubMed: Kozich 1993 - - In vitro (cloned), Germline - - - - - Johan den Dunnen
+/. 4 5 c.442G>A - r.(?) p.(Gly148Arg) - pathogenic g.44486362C>T g.43066252C>T - - CBS_000183 - PubMed: Orendae 2004, PubMed: Urreizti 2006, PubMed: Kraus 1999, T Ohura, PubMed: Katsushima 2006 - - Germline - - MspI-,BstNI+, FokI+ - - Johan den Dunnen
+/. 1 5 c.443G>A - r.(?) p.(Gly148Glu) - pathogenic g.44486361C>T g.43066251C>T - - CBS_000182 - CBS mutation database, Linnebank - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.444dup - r.(?) p.(Asn149Glufs*39) - pathogenic g.44486362dup g.43066252dup - - CBS_000181 - PubMed: Gaustadnes 2002 - - Germline - - - - - Johan den Dunnen
+/. 6 5, ? c.451G>A - r.spl? p.(Gly151Arg) - pathogenic g.44486353C>T g.43066243C>T - - CBS_000180 - PubMed: Kraus 1999, V Shih, Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1), 4 more items - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.452_478del - r.(?) p.(Gly151_Ala159del) - pathogenic g.44485782_44485808del g.43065672_43065698del 452del27 - CBS_000172 - PubMed: de Franchis 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 5i_6i c.(451+1_452-1)_(531+1_532-1)del - r.452_531del p.? - pathogenic g.(44485632_44485725)_(44485806_44486352)del g.(43065522_43065615)_(43065696_43066242)del 452del80 - CBS_000062 - PubMed: Kraus 1999, V Shih - - Germline - - - - - Johan den Dunnen
-?/., +/. 2 6 c.453G>A - r.453g>a, r.(?) p.Pro145=, p.(Pro145=) - likely benign, pathogenic g.44485804C>T g.43065694C>T - - CBS_000179 - PubMed: Marble 1994, PubMed: Urreizti 2006 - - Germline - - FokI+ - - Johan den Dunnen
+/. 3 6 c.456C>G - r.(?) p.Ile152Met, p.(Ile152Met) - NA, pathogenic g.44485801G>C g.43065691G>C - - CBS_000178 expression cloning in E.coli, CBs activity 0.003 Kluijtmans 1998, PhD thesis, PubMed: Kluijtmans 1999 - - In vitro (cloned), Germline - - Sau3AI- - - Johan den Dunnen
+/. 4 ?, 6 c.457G>A - r.(?) p.(Gly153Arg) - pathogenic g.44485800C>T g.43065690C>T - - CBS_000177 - PubMed: Zaidi 2012, Redonnet-Vernhet 2005 (abstract J Inherit Metab Dis 28 sup1), 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.461T>A - r.(?) p.(Leu154Gln) - pathogenic g.44485796A>T g.43065686A>T - - CBS_000176 - PubMed: Lee 2005 - - Germline - - - - - Johan den Dunnen
+/., ?/. 6 6, ? c.463G>A - r.(?) p.(Ala155Thr) - pathogenic, VUS g.44485794C>T g.43065684C>T CBSL(NM_001354006.1):c.463G>A (p.A155T) - CBS_000175 CBS activity 0.00 nM/mg/h, CBS activity 0.10 nM/mg/h, VKGL data sharing initiative Nederland PubMed: Janosik 2001, PubMed: Linnebank 2004, PubMed: Janosik 2001, PubMed: Kraus 1999, V Kozich, 1 more item - - Germline, CLASSIFICATION record - 2/9770000 chromosomes Sau96I+ - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 ? c.464C>T - r.(?) p.(Ala155Val) - pathogenic g.44485793G>A g.43065683G>A - - CBS_000174 - PubMed: Lee 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.469G>C - r.(?) p.(Ala157Pro) - pathogenic g.44485788C>G g.43065678C>G - - CBS_000173 - PubMed: Evangelisti 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.493_514del - r.(?) p.(Cys165Argfs*2) - pathogenic g.44485743_44485764del g.43065633_43065654del 493del22 - CBS_000169 - PubMed: Gaustadnes 1998 - - Germline - - - - - Johan den Dunnen
+/. 9 6, ? c.494G>A - r.(?) p.(Cys165Tyr), p.Cys165Tyr - pathogenic, NA g.44485763C>T g.43065653C>T CBS(NM_000071.2):c.494G>A (p.C165Y) - CBS_000027 VKGL data sharing initiative Nederland, expression cloning in E.coli, CBs activity 0.013, 1 more item PubMed: Gaustadnes 2002, Kluijtmans 1998, PhD thesis, PubMed: Kluijtmans 1995, PubMed: Janosik 2001, 2 more items - - CLASSIFICATION record, Germline, In vitro (cloned) - - BsoFI- - - VKGL-NL_Utrecht, Johan den Dunnen
-?/. 1 - c.501C>T - r.(?) p.(Ile167=) - likely benign g.44485756G>A g.43065646G>A CBS(NM_001321072.1):c.186C>T (p.I62=) - CBS_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 6 c.502G>A - r.(?) p.(Val168Met) - pathogenic g.44485755C>T g.43065645C>T - - CBS_000171 - PubMed: Kruger 1995, CBS mutation database, Linnebank - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.503T>C - r.(?) p.(Val168Ala) - pathogenic g.44485754A>G g.43065644A>G - - CBS_000170 - PubMed: Porto 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.517A>G - r.(?) p.(Met173Val) - pathogenic g.44485740T>C g.43065630T>C - - CBS_000168 - PubMed: Urreizti 2006 - - Germline - - FokI+ - - Johan den Dunnen
+/. 2 6 c.518_520del - r.(?) p.(Met173del) - pathogenic g.44485739_44485741del g.43065629_43065631del 518delTGA - CBS_000167 - PubMed: Cozar 2011 - - Germline - - - - - Johan den Dunnen
+/. 3 6 c.526G>A - r.(?) p.(Glu176Lys) - pathogenic g.44485731C>T g.43065621C>T - - CBS_000166 CBS activity 0.03 nM/mg/h PubMed: Janosik 2001, PubMed: Kozich 1997, PubMed: Sokolova 2001 - - Germline - 2/9770000 chromosomes BstXI+ - - Johan den Dunnen
+/. 2 6i c.531+1G>A - r.spl p.? - pathogenic g.44485725C>T g.43065615C>T IVS4+1G>A - CBS_000165 - CBS mutation database, Skovby - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.531+11G>A - r.(=) p.(=) - benign, likely benign g.44485715C>T g.43065605C>T CBS(NM_000071.2):c.531+11G>A - CBS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
+/. 1 6i_8i c.532-38del796 - r.spl p.? - pathogenic g.44485669del796 g.43065559del796 IVS4-38del796 (V178GfsX23 ) - CBS_000164 1 more item PubMed: Cozar 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 6i c.532-30_532-2del - r.spl p.? - pathogenic g.44485634_44485662del g.43065524_43065552del 532-32del30 - CBS_000162 - PubMed: Kozich 1997 - - Germline - - - - - Johan den Dunnen
+/. 2 6i c.532-29_631del - r.532_666del p.? - pathogenic g.44485533_44485661del g.43065423_43065551del 304A>C;IVS4-29del129 - CBS_000157 - CBS mutation database, Linnebank - - Germline - - PstI+ - - Johan den Dunnen
+/. 2 6i c.532-14_532-7del - r.spl? p.(?) - pathogenic g.44485639_44485646del g.43065529_43065536del IVS5-14_-7del8 - CBS_000163 - PubMed: Cozar 2011 - - Germline - - - - - Johan den Dunnen
+/. 3 7 c.536_553del - r.(?) p.(Asp179_Leu184del) - pathogenic g.44485613_44485630del g.43065503_43065520del 533del18 - CBS_000160 - PubMed: Gaustadnes 2002, PubMed: Shih 1995 - - Germline - - - - - Johan den Dunnen
+/. 2 7 c.539T>C - r.(?) p.Val18Ala, p.(Val180Ala) - NA, pathogenic g.44485624A>G g.43065514A>G - - CBS_000161 expression cloning in E.coli, CBs activity 0.03, no variant 2nd allele identified Kluijtmans 1998, PhD thesis, PubMed: Kluijtmans 1999 - - In vitro (cloned), Germline - - - - - Johan den Dunnen
+/. 52 7, ? c.572C>T - r.(?) p.(Thr191Met), p.Thr191Met - pathogenic, NA g.44485591G>A g.43065481G>A - - CBS_000159 no variant 2nd allele identified, expression cloning in E.coli, CBs activity 0.01, 1 more item PubMed: Cozar 2011, PubMed: Urreizti 2003, PubMed: Porto 2005, PubMed: De Lucca 2004, 6 more items - rs121964973 Germline, In vitro (cloned) - 2/2788 individuals FokI+ - - Johan den Dunnen, Mohammed Faruq
-/. 1 - c.573G>A - r.(?) p.(Thr191=) - benign g.44485590C>T g.43065480C>T CBS(NM_000071.2):c.573G>A (p.T191=) - CBS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.582T>C - r.(?) p.(Asn194=) - likely benign g.44485581A>G g.43065471A>G CBS(NM_001321072.1):c.267T>C (p.N89=), CBSL(NM_001354006.1):c.582T>C (p.N194=) - CBS_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.593A>T - r.(?) p.(Asp198Val) - pathogenic g.44485570T>A g.43065460T>A - - CBS_000158 - PubMed: Kraus 1999, V Shih - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 7 c.599C>T - r.(?) p.(Pro200Leu) - pathogenic, VUS g.44485564G>A g.43065454G>A CBS(NM_000071.2):c.599C>T (p.(Pro200Leu)) - CBS_000025 VKGL data sharing initiative Nederland PubMed: Cozar 2011 - - Germline, CLASSIFICATION record - - MspI- - - Johan den Dunnen, VKGL-NL_Leiden
-/. 1 - c.636C>T - r.(?) p.(Asn212=) - benign g.44485527G>A g.43065417G>A CBS(NM_001321072.1):c.321C>T (p.N107=) - CBS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.650C>T - r.(?) p.(Ser217Phe) - pathogenic g.44485513G>A g.43065403G>A - - CBS_000156 - PubMed: Katsushima 2006 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.667-6A>G - r.(=) p.(=) - likely benign g.44485388T>C g.43065278T>C CBS(NM_000071.2):c.667-6A>G (p.(=)) - CBS_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 8 c.671G>A - r.(?) p.(Arg224His) - pathogenic g.44485378C>T g.43065268C>T - - CBS_000155 - PubMed: Kruger 1995 - - Germline - - - - - Johan den Dunnen
+/. 7 8, ? c.676G>A - r.(?) p.(Ala226Thr) - pathogenic g.44485373C>T g.43065263C>T - - CBS_000154 - PubMed: Cozar 2011, PubMed: Kraus 1999, L Elsas, PubMed: Urreizti 2006, PubMed: Linnebank 2004, 2 more items - - Germline - - FokI+ - - Johan den Dunnen
+/. 1 8 c.683A>G - r.(?) p.(Asn228Ser) - pathogenic g.44485366T>C g.43065256T>C - - CBS_000153 - PubMed: Kruger 2003 - - Germline - - - - - Johan den Dunnen
+/. 2 8 c.684C>A - r.(?) p.(Asn228Lys) - pathogenic g.44485365G>T g.43065255G>T - - CBS_000152 - PubMed: Gaustadnes 2002, PubMed: Orendae 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 8 c.684C>G - r.(?) p.(Asn228Lys) - pathogenic g.44485365G>C g.43065255G>C - - CBS_000151 - PubMed: Gallagher 1998 - - Germline - - - - - Johan den Dunnen
+/. 2 8 c.689del - r.(?) p.(Leu230Argfs*39) - pathogenic g.44485360del g.43065250del 689delT - CBS_000150 - PubMed: Cozar 2011 - - Germline - - MspI+ - - Johan den Dunnen
+/. 2 8 c.691G>C - r.(?) p.(Ala231Pro) - pathogenic g.44485358C>G g.43065248C>G - - CBS_000149 - PubMed: Kruger 2003 - - Germline - - - - - Johan den Dunnen
+/. 3 8 c.694C>G - r.(?) p.(His232Asp) - pathogenic g.44485355G>C g.43065245G>C - - CBS_000148 - PubMed: Yokoi 2008, PubMed: Katsushima 2006 - - Germline - - - - - Johan den Dunnen
-?/., -/., +/. 5 8 c.699C>T - r.(?) p.(Tyr233=) - likely benign, benign, pathogenic g.44485350G>A g.43065240G>A CBS(NM_000071.2):c.699C>T (p.Y233=), CBSL(NM_001354006.1):c.699C>T (p.Y233=) - CBS_000032 VKGL data sharing initiative Nederland PubMed: Janosikova 2005 - - CLASSIFICATION record, Germline - 128/400 chroosomes - - - VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Nijmegen, Johan den Dunnen
+/., ?/. 6 ?, 8 c.700G>A - r.(?) p.(Asp234Asn) - pathogenic, VUS g.44485349C>T g.43065239C>T - - CBS_000147 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: El-Said 2006, Faruq 2020, submtted, PubMed: De Lucca 2004, CBS mutation database, Shih, 1 more item - rs773734233 Germline, CLASSIFICATION record - 1/2795 individuals, 14/29448 newborns - - - Johan den Dunnen, Mohammed Faruq, VKGL-NL_Nijmegen
+/. 2 ? c.700_702del - r.(?) p.(Asp234del) - pathogenic g.44485349_44485351del g.43065239_43065241del 700_702delGAC - CBS_000146 - PubMed: Lee 2005 - - Germline - - - - - Johan den Dunnen
+/. 2 8 c.715G>A - r.715g>a p.Glu239Lys - pathogenic g.44485334C>T g.43065224C>T - - CBS_000145 - PubMed: de Franchis 1994 - - Germline - - - - - Johan den Dunnen
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