All variants in the CYB5R3 gene

Information The variants shown are described using the NM_000398.6 transcript reference sequence.

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

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     
-?/. - c.21+6C>T - r.(=) p.(=) - likely benign g.43045295G>A g.42649289G>A CYB5R3(NM_000398.6):c.21+6C>T (p.(=)) - CYB5R3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.21+4827C>T - r.(=) p.(=) - VUS g.43040474G>A g.42644468G>A CYB5R3(NM_000398.6):c.21+4827C>T (p.(=)) - CYB5R3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.45A>G - r.(?) p.(Pro15=) - benign g.43032829T>C g.42636823T>C CYB5R3(NM_001171660.1):c.144A>G (p.P48=) - ATP5L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.51G>A - r.(?) p.(Trp17*) ACMG likely pathogenic (recessive) g.43032823C>T - - - CYB5R3_000080 - - - - Germline yes - - - - Wenjuan Qiu
+/+ 2 c.82C>T - r.(?) p.(Gln28*) - pathogenic g.43032792G>A g.42636786G>A Gln27STOP - CYB5R3_000071 check combination variants Journal: Fermo 2008 PMID: 18343696 - - Germline - - - - - Joaquin Brintrup
+/+ 2 c.129C>A - r.(?) p.(Tyr43*) - pathogenic g.43032745G>T g.42636739G>T - - CYB5R3_000070 check combination variants PubMed: Manabe 1996 - - Germline - - - - - Joaquin Brintrup
+/+ 2 c.136C>T - r.(?) p.(Arg46Trp) - pathogenic g.43032738G>A g.42636732G>A Arg45Trp - CYB5R3_000069 check combination variants Journal: Fermo 2008 - rs753499270 Germline - - - - - Joaquin Brintrup
-?/. - c.137G>A - r.(?) p.(Arg46Gln) - likely benign g.43032737C>T g.42636731C>T CYB5R3(NM_001129819.2):c.68G>A (p.R23Q) - ATP5L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.145G>C - r.(?) p.(Asp49His) - VUS g.43032729C>G g.42636723C>G CYB5R3(NM_001129819.2):c.76G>C (p.D26H) - ATP5L2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.148C>T - r.(?) p.(Arg50Trp) - pathogenic g.43032726G>A g.42636720G>A - - CYB5R3_000004 - - - - Germline - - - - - Joaquin Brintrup
+/. 2 c.148C>T - r.(?) p.(Arg50Trp) - pathogenic g.43032726G>A g.42636720G>A - - CYB5R3_000004 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 2 c.148C>T - r.(?) p.(Arg50Trp) - pathogenic g.43032726G>A g.42636720G>A - - CYB5R3_000004 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 2 c.148C>T - r.(?) p.(Arg50Trp) - pathogenic g.43032726G>A g.42636720G>A - - CYB5R3_000004 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 2 c.148C>T - r.(?) p.(Arg50Trp) - pathogenic g.43032726G>A g.42636720G>A - - CYB5R3_000004 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 2 c.149G>A - r.(?) p.(Arg50Gln) - pathogenic g.43032725C>T g.42636719C>T G149A (R49Q) - CYB5R3_000025 - PubMed: Dekker 2001 - - Germline - - - - - Joaquin Brintrup
+/+ 2i c.153+1G>A - r.spl? p.? - pathogenic g.43032720C>T g.42636714C>T IVS2, DS, G-A,+1 (Case 6) - CYB5R3_000068 check combination variants Journal: Ewenczyk 2008 - - Germline - - - - - Joaquin Brintrup
+/+ 3 c.162C>G - r.(?) p.(Ser54Arg) - pathogenic g.43027448G>C g.42631442G>C NG_012194.1:g.17958C>G - CYB5R3_000067 check combination variants Journal: Lorenzo 2011 - - Germline - - - - - Joaquin Brintrup
+/+? 3 c.172C>T - r.(?) p.(Arg58Trp) - pathogenic (recessive) g.43027438G>A g.42631432G>A p.Arg57Trp (start ATG=0) - CYB5R3_000066 Kedar et al. 2014: Two homozygous siblings with chloroquine induced methemoglobinemia. Both parents are heterozygous carriers of the same mutation. NADH-cyb5R activity reduced to 16 and 20 (IU/gHb) respectively (Refernece range 30 to 40 (IU/gHb). Journal: Kedar 2014 - rs1302856929 Germline - - - - - Joaquin Brintrup
+/+ 3 c.173G>A - r.(?) p.(Arg58Gln) - pathogenic g.43027437C>T g.42631431C>T - - CYB5R3_000017 check combination variants Journal: Fermo 2008 - rs121965007 Germline - - - - - Joaquin Brintrup
+/. 3 c.173G>A - r.(?) p.(Arg58Gln) - pathogenic g.43027437C>T g.42631431C>T - - CYB5R3_000017 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 3 c.173G>A b5R Toyoake r.(?) p.(Arg58Gln) - pathogenic g.43027437C>T g.42631431C>T G>A (Arg57Gln) - CYB5R3_000017 not in 88 control chromosomes PubMed: Katsube 1991, OMIM:var0002 - rs121965007 Germline - - MspI- - - Johan den Dunnen
+/. 3 c.173G>A - r.(?) p.(Arg58Gln) - pathogenic g.43027437C>T g.42631431C>T G>A (Arg57Gln) - CYB5R3_000017 - PubMed: Shirabe 1992 - - Germline - - HpaII- - - Johan den Dunnen
+/. 3 c.173G>A - r.(?) p.(Arg58Gln) - pathogenic g.43027437C>T g.42631431C>T G>A (Arg57Gln) - CYB5R3_000017 - PubMed: Shirabe 1992 - - Germline - - - - - Johan den Dunnen
+/. 3 c.173G>C - r.(?) p.(Arg58Pro) - pathogenic g.43027437C>G g.42631431C>G - - CYB5R3_000065 3-year old male with a CYB5R3 compound heterozygous mutation. Maternally inherited c.173G>C, p.(Arg58Pro) and paternally inherited c.226G>A, p.(Gly76Ser). He has been described as having a “milder” form of RCM type II. Journal: Cooper 2016 PubMed: Percy 2012 - rs121965007 Germline - - - - - Joaquin Brintrup
+/+ 3 c.175C>T - r.(?) p.(Arg59Cys) - pathogenic g.43027435G>A g.42631429G>A - - CYB5R3_000005 - - - - Germline - - - - - Joaquin Brintrup
+/. 3 c.176G>A - r.(?) p.(Arg59His) - pathogenic g.43027434C>T g.42631428C>T - - CYB5R3_000006 - - - - Germline - - - - - Joaquin Brintrup
+/. 3 c.182G>C - r.(?) p.(Arg61Pro) - pathogenic g.43027428C>G g.42631422C>G - - CYB5R3_000007 - - - - Germline - - - - - Joaquin Brintrup
+/. 3 c.182G>C - r.(?) p.(Arg61Pro) - pathogenic g.43027428C>G g.42631422C>G - - CYB5R3_000007 - - - - Germline - - - - - Joaquin Brintrup
+/. 3 c.194C>T - r.(?) p.(Pro65Leu) - pathogenic g.43027416G>A g.42631410G>A - - CYB5R3_000026 check combination variants Journal: Fermo 2008 - - Germline - - - - - Joaquin Brintrup
+/. 3 c.194C>T - r.(?) p.(Pro65Leu) - pathogenic g.43027416G>A g.42631410G>A C194T (P64L) - CYB5R3_000026 - PubMed: Dekker 2001 - - Germline - - - - - Joaquin Brintrup
?/. - c.214G>A - r.(?) p.(Gly72Ser) - VUS g.43027396C>T - CYB5R3(NM_000398.7):c.214G>A (p.(Gly72Ser)) - ATP5L2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 c.218T>C - r.(?) p.(Leu73Pro) - pathogenic g.43027392A>G g.42631386A>G - - CYB5R3_000064 check combination variants Journal: Fermo 2008 - - Germline - - - - - Joaquin Brintrup
+/. 3 c.223G>T - r.(?) p.(Val75Phe) - pathogenic g.43027387C>A g.42631381C>A - - CYB5R3_000008 - - - - Germline - - - - - Joaquin Brintrup
-?/. - c.225C>T - r.(?) p.(Val75=) - likely benign g.43027385G>A - CYB5R3(NM_001129819.2):c.156C>T (p.V52=) - ATP5L2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.226G>A - r.(?) p.(Gly76Ser) - pathogenic g.43027384C>T g.42631378C>T G75S - CYB5R3_000018 check combination variants Journal: Percy 2006, PubMed: Percy 2006 - - Germline - - - - - Joaquin Brintrup
+/. 3 c.226G>A - r.(spl?) p.(Gly76Ser) - pathogenic g.43027384C>T g.42631378C>T - - CYB5R3_000018 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 3 c.226G>A - r.(spl?) p.(Gly76Ser) - pathogenic g.43027384C>T g.42631378C>T G75S - CYB5R3_000018 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 3 c.226G>A - r.(spl?) p.(Gly76Ser) - pathogenic g.43027384C>T g.42631378C>T G75S - CYB5R3_000018 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
-?/. - c.226+10G>A - r.(=) p.(=) - likely benign g.43027374C>T - CYB5R3(NM_000398.7):c.226+10G>A - ATP5L2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 4 c.229C>T - r.(?) p.(Gln77*) - pathogenic g.43026992G>A g.42630986G>A - - CYB5R3_000063 check combination variants PubMed: Aalfs 2000 - - Germline - - - - - Joaquin Brintrup
?/. - c.245C>T - r.(?) p.(Ser82Leu) - VUS g.43026976G>A g.42630970G>A CYB5R3(NM_001129819.2):c.176C>T (p.S59L) - ATP5L2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.250C>T - r.(?) p.(Arg84*) - pathogenic g.43026971G>A g.42630965G>A - - CYB5R3_000062 check combination variants Journal: Fermo 2008 - - Germline - - - - - Joaquin Brintrup
+/. 4 c.287C>A - r.(?) p.(Pro96His) - pathogenic g.43026934G>T g.42630928G>T codon 95 CCC>CAC - CYB5R3_000061 check combination variants PubMed: Manabe 1996 - - Germline - - - - - Joaquin Brintrup
+/. 4 c.316G>A - r.(?) p.(Val106Met) - pathogenic g.43026905C>T g.42630899C>T G>A (Val105Met) - CYB5R3_000032 - PubMed: Shirabe 1992, OMIM:var0004 - rs121965009 Germline - - - - - Joaquin Brintrup
+/. 4 c.332A>T - r.(?) p.(Lys111Met) - pathogenic g.43026889T>A g.42630883T>A Lys111Met - CYB5R3_000060 check combination variants Journal: Ewenczyk 2008 - - Germline - - - - - Joaquin Brintrup
+/. 4i c.334-2A>G - r.spl p.? - pathogenic g.43024289T>C g.42628283T>C - - CYB5R3_000059 check combination variants Journal: Kugler 2001 - - Germline - - - - - Joaquin Brintrup
+/. 4i c.334-1G>A - r.spl p.? - pathogenic g.43024288C>T g.42628282C>T IVS4-1G>A - CYB5R3_000027 - PubMed: Dekker 2001 - - Germline - - - - - Joaquin Brintrup
+?/. 4i_8i c.(333+1_334-1)_(733+1_734-1)del - r.? p.? - likely pathogenic g.(?_43019795)_(43024287_?)del - chr22:43019795-?_43024287+?del - CYB5R3_000082 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.376A>G - r.(?) p.(Lys126Glu) - VUS g.43024245T>C - CYB5R3(NM_000398.7):c.376A>G (p.(Lys126Glu)) - ATP5L2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.379A>G - r.(?) p.(Met127Val) - pathogenic g.43024242T>C g.42628236T>C - - CYB5R3_000058 check combination variants Journal: Fermo 2008 - - Germline - - - - - Joaquin Brintrup
+/. 5 c.382T>C b5R Hiroshima r.(?) p.(Ser128Pro) - pathogenic g.43024239A>G g.42628233A>G T>C (Ser127Pro) - CYB5R3_000030 - PubMed: Kobayashi 1990, OMIM:var0001 - rs121965006 Germline yes - - - - Joaquin Brintrup
+/. 5 c.383C>T - r.(?) p.(Ser128Phe) - pathogenic g.43024238G>A g.42628232G>A - - CYB5R3_000001 - - - - Germline - - - - - Joaquin Brintrup
+/. 5 c.383C>T - r.(?) p.(Ser128Phe) - pathogenic g.43024238G>A g.42628232G>A - - CYB5R3_000001 - - - - Germline - - - - - Joaquin Brintrup
+/. 5 c.392T>C - r.(?) p.(Leu131Pro) - pathogenic g.43024229A>G g.42628223A>G Leu131Pro - CYB5R3_000057 check combination variants Journal: Ewenczyk 2008 - - Germline - - - - - Joaquin Brintrup
+/+ 5 c.415_416del - r.(?) p.(Thr139Hisfs*2) - pathogenic g.43024207_43024208del g.42628201_42628202del - - CYB5R3_000009 - - - - Germline - - - - - Joaquin Brintrup
+/. 5 c.428G>C - r.(?) p.(Arg143Pro) - pathogenic g.43024193C>G g.42628187C>G - - CYB5R3_000010 - - - - Germline - - - - - Joaquin Brintrup
+/. 5 c.431G>A - r.(?) p.(Gly144Asp) - pathogenic g.43024190C>T g.42628184C>T - - CYB5R3_000056 check combination variants Journal: Kedar 2008 - - Germline - - - - - Joaquin Brintrup
+/. 5 c.433C>T - r.(?) p.(Pro145Ser) - pathogenic g.43024188G>A g.42628182G>A - - CYB5R3_000015 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 5 c.434C>T - r.(?) p.(Pro145Leu) - pathogenic g.43024187G>A g.42628181G>A C434T (P144L) - CYB5R3_000011 - PubMed: Dekker 2001 - - Germline - - - - - Joaquin Brintrup
?/. - c.436A>G - r.(?) p.(Ser146Gly) - VUS g.43024185T>C g.42628179T>C CYB5R3(NM_000398.6):c.436A>G (p.(Ser146Gly)) - CYB5R3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.437G>C - r.[(536g>c),spl] p.[((Ser146Thr),?] - pathogenic (recessive) g.43024184C>G g.42628178C>G NM_001171660.1:c.536G>C - CYB5R3_000079 - PubMed: Santos-Cortez 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.437G>C - r.[(536g>c),spl] p.[((Ser146Thr),?] - pathogenic (recessive) g.43024184C>G g.42628178C>G NM_001171660.1:c.536G>C - CYB5R3_000079 - PubMed: Santos-Cortez 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.437G>C - r.[(536g>c),spl] p.[((Ser146Thr),?] - pathogenic (recessive) g.43024184C>G g.42628178C>G NM_001171660.1:c.536G>C - CYB5R3_000079 - PubMed: Santos-Cortez 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.437G>C - r.[(536g>c),spl] p.[((Ser146Thr),?] - pathogenic (recessive) g.43024184C>G g.42628178C>G NM_001171660.1:c.536G>C - CYB5R3_000079 - PubMed: Santos-Cortez 2018 - - Germline - - - - - Johan den Dunnen
+/. 5 c.446T>C - r.(?) p.(Leu149Pro) - pathogenic g.43024175A>G g.42628169A>G Leu148Pro - CYB5R3_000031 check combination variants Journal: Percy and Lappin 2008, PubMed: Percy and Lappin 2008 - - Germline - - - - - Joaquin Brintrup
+/. 5 c.446T>C b5R Kurobe r.(?) p.(Leu149Pro) - pathogenic g.43024175A>G g.42628169A>G T>C (Leu148Pro) - CYB5R3_000031 not in 92 control chromosomes PubMed: Katsube 1991, OMIM:var0003 - rs121965008 Germline yes - MspI+ - - Johan den Dunnen
+/. 5 c.462A>C - r.(?) p.(Lys154Asn) - pathogenic g.43024159T>G g.42628153T>G IVS 5 -2 - CYB5R3_000055 check combination variants PubMed: Maran 2005 - - Germline - - - - - Joaquin Brintrup
+/. 5i c.463+2T>C - r.spl? p.? - pathogenic g.43024156A>G g.42628150A>G IVS 5 +2 - CYB5R3_000054 check combination variants Journal: Yilmaz 2005 - - Germline - - - - - Joaquin Brintrup
+/. 5i c.463+8G>C - r.(?) p.(?) - pathogenic g.43024150C>G g.42628144C>G - - CYB5R3_000053 check combination variants PubMed: Vieira 1995 - - Germline - - - - - Joaquin Brintrup
+/. 5i c.464-2A>C - r.spl? p.? - pathogenic g.43023696T>G g.42627690T>G intron 5 splice acceptor CCCCAG>CCCCCG - CYB5R3_000052 check combination variants PubMed: Owen 1997 - - Germline - - - - - Joaquin Brintrup
+/. 5 c.464G>A - r.(spl?) p.(Gly155Glu) - pathogenic g.43023694C>T g.42627688C>T 461G>A (Gly155Glu) - CYB5R3_000016 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.470T>G - r.(?) p.(Phe157Cys) - pathogenic g.43023688A>C g.42627682A>C - - CYB5R3_000051 check combination variants Journal: Lorenzo 2011 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.478C>T - r.(?) p.(Arg160*) - pathogenic g.43023680G>A g.42627674G>A - - CYB5R3_000049 check combination variants PubMed: Aalfs 2000 - - Germline - - - - - Joaquin Brintrup
+/+ 6 c.478C>T - r.(?) p.(Arg160*) ACMG likely pathogenic (recessive) g.43023680G>A - - - CYB5R3_000081 - - 248 rs61732609 Germline yes - - - - Wenjuan Qiu
+/. 6 c.479C>G - r.(?) p.(Arg160Pro) - pathogenic g.43023681G>C - - - CYB5R3_000050 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.514G>C - r.(?) p.(Val172Leu) - pathogenic g.43023644C>G g.42627638C>G - - CYB5R3_000048 check combination variants Journal: Rawa 2013 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.517_525del - r.(?) p.(Lys173_Val175del) - pathogenic g.43023636_43023644del g.42627630_42627638del c.517_525delAAGTCTGTG - CYB5R3_000023 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+?/. - c.527G>T - r.(?) p.(Gly176Val) - likely pathogenic g.43023631C>A - - - CYB5R3_000083 - - - rs377689936 CLASSIFICATION record - - - - - MobiDetails
+/. 6 c.529A>G - r.(?) p.(Met177Val) - pathogenic g.43023629T>C g.42627623T>C 531G>A (Met177Val) - CYB5R3_000024 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.529A>G - r.(?) p.(Met177Val) - pathogenic g.43023629T>C g.42627623T>C 531G>A (Met177Val) - CYB5R3_000024 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.531G>A - r.(?) p.(Met177Ile) - pathogenic g.43023627C>T g.42627621C>T - - CYB5R3_000019 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.533T>C - r.(?) p.(Ile178Thr) - pathogenic g.43023625A>G g.42627619A>G 530T>C (Ile178Thr) - CYB5R3_000020 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.533T>C - r.(?) p.(Ile178Thr) - pathogenic g.43023625A>G g.42627619A>G 530T>C (Ile178Thr) - CYB5R3_000020 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.533T>C - r.(?) p.(Ile178Thr) - pathogenic g.43023625A>G g.42627619A>G 530T>C (Ile178Thr) - CYB5R3_000020 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.533T>C - r.(?) p.(Ile178Thr) - pathogenic g.43023625A>G g.42627619A>G 530T>C (Ile178Thr) - CYB5R3_000020 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.533T>C - r.(?) p.(Ile178Thr) - pathogenic g.43023625A>G g.42627619A>G 530T>C (Ile178Thr) - CYB5R3_000020 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.533T>C - r.(?) p.(Ile178Thr) - pathogenic g.43023625A>G g.42627619A>G 530T>C (Ile178Thr) - CYB5R3_000020 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.535G>A - r.(?) p.(Ala179Thr) - pathogenic g.43023623C>T g.42627617C>T G535A (A178T) - CYB5R3_000014 - PubMed: Dekker 2001 - - Germline - - - - - Joaquin Brintrup
+/. 6 c.535G>A - r.(?) p.(Ala179Thr) - pathogenic g.43023623C>T g.42627617C>T 536G>A - CYB5R3_000014 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
+/. 6i c.547+1G>A - r.spl p.? - pathogenic g.43023610C>T g.42627604C>T - - CYB5R3_000047 check combination variants PubMed: Maran 2005 - - Germline - - - - - Joaquin Brintrup
-?/. - c.558G>A - r.(?) p.(Pro186=) - likely benign g.43023385C>T g.42627379C>T CYB5R3(NM_000398.7):c.558G>A (p.P186=), CYB5R3(NM_001129819.2):c.489G>A (p.P163=) - ATP5L2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.558G>A - r.(?) p.(Pro186=) - likely benign g.43023385C>T - CYB5R3(NM_000398.7):c.558G>A (p.P186=), CYB5R3(NM_001129819.2):c.489G>A (p.P163=) - ATP5L2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.574C>T - r.(?) p.(Arg192Cys) - likely pathogenic g.43023369G>A - CYB5R3(NM_000398.7):c.574C>T (p.(Arg192Cys)) - ATP5L2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 7 c.610T>C - r.(?) p.(Cys204Arg) - pathogenic g.43023333A>G g.42627327A>G - - CYB5R3_000046 check combination variants PubMed: Maran 2005 - - Germline - - - - - Joaquin Brintrup
+/. 7 c.611G>A - r.(?) p.(Cys204Tyr) - pathogenic g.43023332C>T g.42627326C>T - - CYB5R3_000045 check combination variants PubMed: Wang 2000 - - Germline - - - - - Joaquin Brintrup
+/. 8 c.637G>A - r.(?) p.(Glu213Lys) - pathogenic g.43019891C>T g.42623885C>T - - CYB5R3_000044 check combination variants PubMed: Jenkins and Prchal 1996 - - Germline - - - - - Joaquin Brintrup
?/. - c.637G>A - r.(?) p.(Glu213Lys) - VUS g.43019891C>T g.42623885C>T CYB5R3(NM_001129819.2):c.568G>A (p.E190K) - CYB5R3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8 c.653T>C - r.(?) p.(Leu218Pro) - pathogenic g.43019875A>G g.42623869A>G - - CYB5R3_000043 check combination variants PubMed: Nussenzweig 2006 - - Germline - - - - - Joaquin Brintrup
+/. 8 c.655C>T - r.(?) p.(Arg219*) - pathogenic g.43019873G>A g.42623867G>A - - CYB5R3_000042 check combination variants PubMed: Vieira 1995 - - Germline - - - - - Joaquin Brintrup
+/. 8 c.708G>A - r.(?) p.(Trp236*) - pathogenic g.43019820C>T g.42623814C>T - - CYB5R3_000021 - Journal: Warang 2015 - - Germline - - - - - Joaquin Brintrup
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