Full data view for gene BCKDHA

Information The variants shown are described using the NM_000709.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-4944G>A r.(?) p.(=) Unknown - VUS g.41898789G>A - EXOSC5(NM_020158.4):c.245C>T (p.(Pro82Leu)) - BCKDHA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-585del r.(?) p.(=) Unknown - likely pathogenic g.41903148del - - - BCKDHA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-34T>G r.(?) p.(=) Unknown - benign g.41903699T>G g.41397794T>G - - BCKDHA_000055 - Journal: Jaradat 2016 - rs45500792 Germline - - - - - DNA SEQ - - Healthy/Control - Journal: Jaradat 2016 control - - Jordan - - - - - 1 Johan den Dunnen
-?/. - c.15C>T r.(?) p.(Ile5=) Unknown - likely benign g.41903747C>T g.41397842C>T BCKDHA(NM_000709.3):c.15C>T (p.I5=) - BCKDHA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.34C>A r.(?) p.(Arg12=) Unknown - benign g.41903766C>A g.41397861C>A BCKDHA(NM_000709.4):c.34C>A (p.R12=) - BCKDHA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.34C>A r.(?) p.(Arg12=) Unknown - benign g.41903766C>A g.41397861C>A - - BCKDHA_000005 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - rs34541442 Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 2 Johan den Dunnen
?/. - c.55C>A r.(?) p.(Gln19Lys) Unknown - VUS g.41903787C>A g.41397882C>A BCKDHA(NM_000709.3):c.55C>A (p.(Gln19Lys)) - BCKDHA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_4i c.(108+1_109-1)_(484+1_485-1)del r.? p.(His37Valfs*3) Maternal (confirmed) - pathogenic g.(41903841_41916541)_(41920063_41925039)del - - - BCKDHA_000025 - - - - Germline - - - - - DNA, RNA SEQ, SEQ-NG-I - - MSUD1A - - - - - - - - - - - 1 Belen Perez
+?/. - c.(108+1_109-1)_(484+1_485-1)del r.(109_484) del p.(His37ValfsTer3) Parent #2 - likely pathogenic g.(41903841_41916541)_(41920063_41925039)del g.(41397936_41410636)_(41414158_41419134)del r.109-?_484+? - BCKDHA_000025 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat28 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
-/. - c.114C>T r.(?) p.(Pro38=) Unknown - benign g.41916547C>T g.41410642C>T - - BCKDHA_000056 - Journal: Jaradat 2016 - rs11549935 Germline - - - - - DNA SEQ - - Healthy/Control - Journal: Jaradat 2016 control - - Jordan - - - - - 1 Johan den Dunnen
-/. - c.116C>A r.(?) p.(Pro39His) Unknown - benign g.41916549C>A g.41410644C>A BCKDHA(NM_000709.4):c.116C>A (p.P39H) - BCKDHA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.116C>A r.(?) p.(Pro39His) Unknown - benign g.41916549C>A g.41410644C>A - - BCKDHA_000007 - PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud002 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - 1 Johan den Dunnen
-/. 2 c.116C>A r.(?) p.(Pro39His) Unknown - benign g.41916549C>A g.41410644C>A - - BCKDHA_000007 enzyme activity <0.05 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud007 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Spain - - - - - 1 Johan den Dunnen
-/. 2 c.116C>A r.(?) p.(Pro39His) Unknown - benign g.41916549C>A g.41410644C>A - - BCKDHA_000007 enzyme activity 0.65 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud019 PubMed: Henneke 2003, Journal: Henneke 2003 - - - France - - - - - 1 Johan den Dunnen
-/. - c.116C>A r.(?) p.(Pro39His) Unknown - benign g.41916549C>A g.41410644C>A 87C>A (Pro39His) - BCKDHA_000007 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - rs34589432 Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 5 Johan den Dunnen
?/. - c.176C>T r.(?) p.(Ala59Val) Unknown - VUS g.41916609C>T - BCKDHA(NM_000709.4):c.176C>T (p.(Ala59Val)) - BCKDHA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.246G>A r.(?) p.(Met82Ile) Unknown - VUS g.41916679G>A - BCKDHA(NM_000709.4):c.246G>A (p.(Met82Ile)) - BCKDHA_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.249C>T r.(?) p.(Asp83=) Unknown - likely benign g.41916682C>T - BCKDHA(NM_000709.3):c.249C>T (p.D83=) - BCKDHA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.250C>T r.(?) p.(Arg84Trp) Unknown - VUS g.41916683C>T - BCKDHA(NM_000709.3):c.250C>T (p.R84W) - BCKDHA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288C>T r.(?) p.(His96=) Unknown - likely benign g.41916721C>T g.41410816C>T BCKDHA(NM_000709.3):c.288C>T (p.H96=) - BCKDHA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.288+9C>T r.(=) p.(=) Parent #1 - VUS g.41916730C>T g.41410825C>T - - BCKDHA_000039 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123497 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.289-5C>T r.spl? p.? Unknown - likely benign g.41916823C>T g.41410918C>T BCKDHA(NM_000709.4):c.289-5C>T - BCKDHA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293C>T r.(?) p.(Pro98Leu) Unknown - VUS g.41916832C>T g.41410927C>T BCKDHA(NM_000709.3):c.293C>T (p.P98L) - BCKDHA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336T>G r.(?) p.(Leu112=) Unknown - likely benign g.41916875T>G - BCKDHA(NM_000709.4):c.336T>G (p.L112=) - BCKDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370C>T r.(?) p.(Arg124Trp) Unknown - VUS g.41916909C>T g.41411004C>T BCKDHA(NM_000709.3):c.370C>T (p.R124W) - BCKDHA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.373C>G r.(?) p.(Gln125Glu) Both (homozygous) - pathogenic (recessive) g.41916912C>G g.41411007C>G (Q125E) - BCKDHA_000057 - PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} - - Germline - - - - - DNA SEQ, SSCA - - MSUD Pat4 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.376-10A>C r.(=) p.(=) Unknown - benign g.41919944A>C g.41414039A>C BCKDHA(NM_000709.4):c.376-10A>C - BCKDHA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.376-10A>C r.(=) p.(=) Unknown - benign g.41919944A>C g.41414039A>C BCKDHA(NM_000709.4):c.376-10A>C - BCKDHA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376-4C>T r.spl? p.? Unknown - likely benign g.41919950C>T g.41414045C>T BCKDHA(NM_000709.4):c.376-4C>T - BCKDHA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.452C>T r.(?) p.(Thr151Met) Unknown - VUS g.41920030C>T g.41414125C>T - - BCKDHA_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.452C>T r.(?) p.(Thr151Met) Unknown - likely benign g.41920030C>T g.41414125C>T BCKDHA(NM_000709.4):c.452C>T (p.T151M) - BCKDHA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.452C>T r.(?) p.(Thr151Met) Unknown - likely benign g.41920030C>T g.41414125C>T BCKDHA(NM_000709.4):c.452C>T (p.T151M) - BCKDHA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.452C>T r.(?) p.(Thr151Met) Parent #1 - likely benign g.41920030C>T g.41414125C>T - - BCKDHA_000002 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34442879 Germline - 18/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 18 Mohammed Faruq
?/. - c.452C>T r.(?) p.(Thr151Met) Maternal (confirmed) - VUS g.41920030C>T g.41414125C>T (T106M) - BCKDHA_000002 - PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MSUD Pat5 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.452C>T r.(?) p.(Thr151Met) Unknown - benign g.41920030C>T g.41414125C>T - - BCKDHA_000002 - Journal: Jaradat 2016 - rs34442879 Germline - 1/50 controls - - - DNA SEQ - - Healthy/Control - Journal: Jaradat 2016 control - - Jordan - - - - - 1 Johan den Dunnen
-?/. 4 c.452C>T r.(?) p.(Thr151Met) Both (homozygous) - likely benign g.41920030C>T g.41414125C>T - - BCKDHA_000002 - PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud006 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - 1 Johan den Dunnen
-?/. 4 c.452C>T r.(?) p.(Thr151Met) Unknown - likely benign g.41920030C>T g.41414125C>T - - BCKDHA_000002 enzyme activity <0.01 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud013 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.475C>T r.(?) p.(Arg159Trp) Parent #1 - pathogenic (recessive) g.41920053C>T g.41414148C>T - - BCKDHA_000058 no variant 2nd chromosome PubMed: Flaschker 2007, Journal: Flaschker 2007 - - Germline - - - - - DNA SEQ - - MSUD Pat6 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.486T>G r.(?) p.(Gly162=) Unknown - likely benign g.41925041T>G g.41419136T>G BCKDHA(NM_000709.4):c.486T>G (p.(Gly162=)) - BCKDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.512_512del r.(?) p.(Leu171ArgfsTer159) Both (homozygous) - pathogenic (recessive) g.41925067del g.41419162del 512_512delT - BCKDHA_000059 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - - Germline - 2/66 alleles MSUD - - - DNA SEQ - - MSUD Pat1 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
-?/. - c.517C>T r.(?) p.(Leu173=) Unknown - likely benign g.41925072C>T g.41419167C>T BCKDHA(NM_000709.4):c.517C>T (p.L173=) - BCKDHA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.647-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.41928068G>C g.41422163G>C - - BCKDHA_000060 - Journal: Jaradat 2016 - - Germline - - - - - DNA SEQ - - MSUD Pat2 Journal: Jaradat 2016 multi-generation family, 2 affected, unaffected heterozygous carrier parents/relatives F - Jordan - - - - - 2 Johan den Dunnen
-?/. - c.648G>T r.(?) p.(Ala216=) Unknown - likely benign g.41928070G>T g.41422165G>T BCKDHA(NM_000709.3):c.648G>T (p.A216=) - BCKDHA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.659C>T r.(?) p.(Ala220Val) Paternal (confirmed) - pathogenic g.41928081C>T g.41422176C>T - - BCKDHA_000024 - - - - Germline - - - - - DNA, RNA SEQ, SEQ-NG-I - - MSUD1A - - - - - - - - - - - 1 Belen Perez
+?/. - c.659C>T r.(?) p.(Ala220Val) Parent #1 - likely pathogenic g.41928081C>T g.41422176C>T - - BCKDHA_000024 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat28 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.664G>A r.(?) p.(Ala222Thr) Unknown - VUS g.41928086G>A g.41422181G>A BCKDHA(NM_000709.4):c.664G>A (p.A222T) - BCKDHA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Phe236=) Unknown - likely benign g.41928130C>T g.41422225C>T BCKDHA(NM_000709.3):c.708C>T (p.F236=), BCKDHA(NM_000709.4):c.708C>T (p.F236=) - BCKDHA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Phe236=) Unknown - likely benign g.41928130C>T g.41422225C>T BCKDHA(NM_000709.3):c.708C>T (p.F236=), BCKDHA(NM_000709.4):c.708C>T (p.F236=) - BCKDHA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Phe236=) Unknown - likely benign g.41928130C>T - BCKDHA(NM_000709.3):c.708C>T (p.F236=), BCKDHA(NM_000709.4):c.708C>T (p.F236=) - BCKDHA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719C>G r.(?) p.(Ala240Gly) Unknown - VUS g.41928141C>G g.41422236C>G - - BCKDHA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.736G>A r.(?) p.(Ala246Thr) Unknown - VUS g.41928158G>A g.41422253G>A - - BCKDHA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.745G>A r.(?) p.(Gly249Ser) Unknown - VUS g.41928167G>A g.41422262G>A BCKDHA(NM_000709.3):c.745G>A (p.G249S) - BCKDHA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.757G>A r.(?) p.(Ala253Thr) Both (homozygous) - pathogenic (recessive) g.41928179G>A g.41422274G>A - - BCKDHA_000061 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - - Germline - - - - - DNA SEQ - - MSUD Pat16 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.773G>A r.(?) p.(Cys258Tyr) Both (homozygous) - pathogenic (recessive) g.41928195G>A g.41422290G>A (C213Y) - BCKDHA_000062 - PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} - rs2122143379 Germline - - - - - DNA SEQ, SSCA - - MSUD FamPat1 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 2 affected sibs, unaffected parents - yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.773G>A r.(?) p.(Cys258Tyr) Both (homozygous) - pathogenic (recessive) g.41928195G>A g.41422290G>A (C213Y) - BCKDHA_000062 - PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} - rs2122143379 Germline - - - - - DNA SEQ, SSCA - - MSUD Pat2 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.773G>A r.(?) p.(Cys258Tyr) Both (homozygous) - pathogenic (recessive) g.41928195G>A g.41422290G>A (C213Y) - BCKDHA_000062 - PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} - rs2122143379 Germline - - - - - DNA SEQ, SSCA - - MSUD Pat3 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - yes Turkey - - - - - 1 Johan den Dunnen
-/. - c.840C>T r.(?) p.(Arg280=) Unknown - benign g.41928262C>T g.41422357C>T BCKDHA(NM_000709.4):c.840C>T (p.R280=) - BCKDHA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.853G>C r.(?) p.(Ala285Pro) Both (homozygous) - pathogenic (recessive) g.41928275G>C g.41422370G>C - - BCKDHA_000063 enzyme activity <0.01 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud018 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Italy - - - - - 1 Johan den Dunnen
-/. - c.853+61T>C r.(?) p.(=) Unknown - benign g.41928336T>C g.41422431T>C - - BCKDHA_000064 - Journal: Jaradat 2016 - rs284651 Germline - - - - - DNA SEQ - - Healthy/Control - Journal: Jaradat 2016 control - - Jordan - - - - - 1 Johan den Dunnen
+/. - c.854-2A>G r.spl? p.? Unknown - pathogenic g.41928532A>G - BCKDHA(NM_000709.3):c.854-2A>G - BCKDHA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.859C>T r.(?) p.(Arg287Ter) Both (homozygous) - pathogenic (recessive) g.41928539C>T g.41422634C>T - - BCKDHA_000065 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs764247545 Germline - 2/66 alleles MSUD - - - DNA SEQ - - MSUD Pat8 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 7 c.859C>T r.(?) p.(Arg287Ter) Both (homozygous) - pathogenic (recessive) g.41928539C>T g.41422634C>T - - BCKDHA_000065 enzyme activity 0.03 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud001 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.861_868del r.(?) p.(Gly288Valfs*11) Unknown - VUS g.41928541_41928548del g.41422636_41422643del chr19:g.46620381_46620388delGAGGCCCC - BCKDHA_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 7 c.861_868del r.(?) p.(Gly288ValfsTer11) Both (homozygous) - pathogenic (recessive) g.41928541_41928548del g.41422636_41422643del 859_866delCGAGGCCC - BCKDHA_000001 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - - Germline - 2/66 alleles MSUD - - - DNA SEQ - - MSUD Pat3 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 7 c.868G>A r.(?) p.(Gly290Arg) Both (homozygous) - pathogenic (recessive) g.41928548G>A g.41422643G>A - - BCKDHA_000054 - PubMed: Henneke 2003, Journal: Henneke 2003, PubMed: Flaschker 2007 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud009;Pat1 PubMed: Henneke 2003, Journal: Henneke 2003, PubMed: Flaschker 2007 - - - Turkey - - - - - 1 Johan den Dunnen
+?/. 7 c.890G>A r.(?) p.(Arg297His) Parent #1 ACMG likely pathogenic (recessive) g.41928570G>A g.41422665G>A - - BCKDHA_000049 Zeynalzadeh 2018:29306928, Cheng 2017:28830848, Frazier 2014:24881969 - ClinVar-93376 rs200137189 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD1A 3bINP-062 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 7 c.890G>A r.(?) p.(Arg297His) Both (homozygous) - pathogenic (recessive) g.41928570G>A g.41422665G>A - - BCKDHA_000049 - Journal: Jaradat 2016 - - Germline - - - - - DNA SEQ - - MSUD Pat4 Journal: Jaradat 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Jordan Iraq - - - - 1 Johan den Dunnen
+/. 7 c.890G>A r.(?) p.(Arg297His) Both (homozygous) - pathogenic (recessive) g.41928570G>A g.41422665G>A 919G>A (Arg297His) - BCKDHA_000049 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - - Germline - - - - - DNA SEQ - - MSUD Pat32 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - yes Turkey - - - - - 1 Johan den Dunnen
+/. 7 c.909_910del r.(?) p.(Phe304CysfsTer36) Both (homozygous) - pathogenic (recessive) g.41928589_41928590del g.41422684_41422685del 908_909delTG - BCKDHA_000066 - Journal: Jaradat 2016 - - Germline - - - - - DNA SEQ - - MSUD Pat3 Journal: Jaradat 2016 patient M yes Jordan - 1y - - - 1 Johan den Dunnen
-?/. - c.924C>T r.(?) p.(Asn308=) Unknown - likely benign g.41928604C>T - BCKDHA(NM_000709.3):c.924C>T (p.N308=) - BCKDHA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941G>A r.(?) p.(Arg314Gln) Unknown - VUS g.41928621G>A g.41422716G>A BCKDHA(NM_000709.3):c.941G>A (p.R314Q) - BCKDHA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.944G>A r.(?) p.(Arg315Gln) Unknown - VUS g.41928624G>A g.41422719G>A BCKDHA(NM_000709.3):c.944G>A (p.R315Q) - BCKDHA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.947G>A r.(?) p.(Arg316Gln) Unknown - VUS g.41928627G>A g.41422722G>A - - BCKDHA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.947_956del r.(?) p.(Arg316GlnfsTer11) Both (homozygous) - pathogenic (recessive) g.41928627_41928636del g.41422722_41422731del 947_956delGGGCTGTGGC - BCKDHA_000067 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - - Germline - 2/66 alleles MSUD - - - DNA SEQ - - MSUD Pat2 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
-/. - c.972C>T r.(?) p.(Phe324=) Unknown - benign g.41928652C>T g.41422747C>T BCKDHA(NM_000709.4):c.972C>T (p.F324=) - BCKDHA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.972C>T r.(?) p.(Phe324=) Unknown - benign g.41928652C>T g.41422747C>T BCKDHA(NM_000709.4):c.972C>T (p.F324=) - BCKDHA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.972C>T r.(?) p.(Phe324=) Both (homozygous) - benign g.41928652C>T g.41422747C>T (F280F) - BCKDHA_000018 - PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} - - Germline - - - - - DNA SEQ, SSCA - - MSUD Pat6 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.972C>T r.(?) p.(Phe324=) Unknown - benign g.41928652C>T g.41422747C>T - - BCKDHA_000018 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - rs284652 Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 7 Johan den Dunnen
-?/. - c.975C>T r.(?) p.(Leu325=) Unknown - likely benign g.41928655C>T g.41422750C>T BCKDHA(NM_000709.3):c.975C>T (p.L325=) - BCKDHA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.979G>A r.(?) p.(Glu327Lys) Parent #1 - likely pathogenic g.41928659G>A g.41422754G>A - - BCKDHA_000040 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123515 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 7 c.982G>A r.(?) p.(Ala328Thr) Both (homozygous) - pathogenic (recessive) g.41928662G>A g.41422757G>A - - BCKDHA_000068 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - - Germline - - - - - DNA SEQ - - MSUD Pat7 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - yes Turkey - - - - - 1 Johan den Dunnen
-/. 7i c.995+26C>T r.(?) p.(=) Both (homozygous) - benign g.41928701C>T g.41422796C>T - - BCKDHA_000053 - Journal: Jaradat 2016 - rs284653 Germline - - - - - DNA SEQ - - MSUD Pat4 Journal: Jaradat 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Jordan Iraq - - - - 1 Johan den Dunnen
-/. - c.996-18C>T r.(?) p.(=) Unknown - benign g.41928885C>T g.41422980C>T - - BCKDHA_000069 - Journal: Jaradat 2016 - rs201511678 Germline - - - - - DNA SEQ - - Healthy/Control - Journal: Jaradat 2016 control - - Jordan - - - - - 1 Johan den Dunnen
?/. - c.1000G>A r.(?) p.(Gly334Arg) Unknown - VUS g.41928907G>A - BCKDHA(NM_000709.3):c.1000G>A (p.G334R) - BCKDHA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1081A>G r.(?) p.(Ile361Val) Unknown - VUS g.41928988A>G g.41423083A>G BCKDHA(NM_000709.3):c.1081A>G (p.I361V) - BCKDHA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1159C>T r.(?) p.(Arg387Cys) Unknown - VUS g.41929066C>T g.41423161C>T BCKDHA(NM_000709.3):c.1159C>T (p.(Arg387Cys)) - BCKDHA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1192G>A r.(?) p.(Glu398Lys) Unknown - VUS g.41930367G>A g.41424462G>A BCKDHA(NM_000709.3):c.1192G>A (p.E398K) - BCKDHA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1192G>T r.(?) p.(Glu398*) Parent #2 ACMG pathogenic (recessive) g.41930367G>T g.41424462G>T - - BCKDHA_000050 Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). - ClinVar-553717 rs201168715 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD1A 3bINP-062 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
-/. - c.1221A>G r.(?) p.(Leu407=) Unknown - benign g.41930396A>G g.41424491A>G BCKDHA(NM_000709.4):c.1221A>G (p.L407=) - BCKDHA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1221A>G r.(?) p.(Leu407=) Unknown - benign g.41930396A>G g.41424491A>G BCKDHA(NM_000709.4):c.1221A>G (p.L407=) - BCKDHA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1221A>G Leu407 p.(Leu407=) Unknown - benign g.41930396A>G g.41424491A>G 1222A>G (Leu407Leu) - BCKDHA_000021 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - rs4647 Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 9 Johan den Dunnen
+/. 9 c.1234G>A r.(?) p.(Val412Met) Both (homozygous) - pathogenic (recessive) g.41930409G>A g.41424504G>A - - BCKDHA_000070 - PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud006 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - 1 Johan den Dunnen
+/. 9 c.1234G>A r.(?) p.(Val412Met) Both (homozygous) - pathogenic (recessive) g.41930409G>A g.41424504G>A - - BCKDHA_000070 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - - Germline - - - - - DNA SEQ - - MSUD Pat3 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 1 Johan den Dunnen
+/. 9 c.1251del r.(?) p.(Ala418ProfsTer67) Both (homozygous) - pathogenic (recessive) g.41930426del g.41424521del 1251delC - BCKDHA_000071 - Journal: Jaradat 2016 - - Germline - - - - - DNA SEQ - - MSUD Pat1 Journal: Jaradat 2016 patient M yes Jordan - - - - - 1 Johan den Dunnen
?/. - c.1271A>G r.(?) p.(Gln424Arg) Unknown - VUS g.41930446A>G g.41424541A>G BCKDHA(NM_000709.3):c.1271A>G (p.(Gln424Arg)) - BCKDHA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1312T>A r.(?) p.(Tyr438Asn) Unknown - VUS g.41930487T>A g.41424582T>A - - BCKDHA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1312T>A r.(?) p.(Tyr438Asn) Unknown - pathogenic g.41930487T>A g.41424582T>A BCKDHA(NM_000709.4):c.1312T>A (p.Y438N) - BCKDHA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1312T>A r.(?) p.(Tyr438Asn) Parent #1 - pathogenic (recessive) g.41930487T>A - - - BCKDHA_000003 no variant 2nd chromosome PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MSUD1A M015 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/. 9 c.1312T>A r.(?) p.(Tyr438Asn) Both (homozygous) - pathogenic (recessive) g.41930487T>A g.41424582T>A - - BCKDHA_000003 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs137852870 Germline - 8/66 alleles MSUD - - - DNA SEQ - - MSUD Pat4 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 9 c.1312T>A r.(?) p.(Tyr438Asn) Both (homozygous) - pathogenic (recessive) g.41930487T>A g.41424582T>A - - BCKDHA_000003 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs137852870 Germline - 8/66 alleles MSUD - - - DNA SEQ - - MSUD Pat5 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
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