Full data view for gene L2HGDH

Information The variants shown are described using the NM_024884.2 transcript reference sequence.

435 entries on 5 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     
+/. _1_9i c.-1_1196+1del r.0? p.? Both (homozygous) - pathogenic (recessive) g.50732077_50778871del g.50265359_50312153del del exon 1-9 - L2HGDH_000011 - PubMed: Topcu 2004, OMIM:var0005 - - Germline - - - 0 - DNA SEQ, PCR - - L2HGA - PubMed: Topcu 2004, OMIM:var0005 consanguineous parents (3rd degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+/. _1_10_ c.-1_*1del r.0? p.0? Both (homozygous) - pathogenic (recessive) g.50713775_50778869del g.50247057_50312151del del exon 1-10 - L2HGDH_000010 L2HG level 1979 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - 0 - DNA SEQ, PCR, MLPA - - L2HGA - PubMed: Steenweg 2010 - M yes France - - 0 - - 1 Gajja Salomons
+?/. 1 c.1A>C r.(?) p.0? Parent #1 - likely pathogenic (recessive) g.50778868T>G g.50312150T>G p.(Met1?) - L2HGDH_000082 - PubMed: Steenweg 2010 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Steenweg 2010 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 1 c.1A>C r.(?) p.0? Parent #2 - likely pathogenic (recessive) g.50778868T>G g.50312150T>G p.(Met1?) - L2HGDH_000082 - PubMed: Steenweg 2010 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Steenweg 2010 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 1 c.1A>G r.(?) p.0? Both (homozygous) - likely pathogenic (recessive) g.50778868T>C g.50312150T>C p.(Met1?) - L2HGDH_000083 L2HG level 888 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - 0 - DNA MLPA, SEQ - - L2HGA - PubMed: Steenweg 2010 - F yes Italy - - 0 - - 1 Gajja Salomons
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic (recessive) g.50778868T>C g.50312150T>C p.(Met1?) - L2HGDH_000083 - PubMed: Steenweg 2010 - - Germline - - - 0 - DNA MLPA, SEQ - - L2HGA - PubMed: Steenweg 2010 - F - France - - 0 - - 1 Gajja Salomons
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic (recessive) g.50778868T>C g.50312150T>C p.(Met1?) - L2HGDH_000083 - PubMed: Steenweg 2010 - - Germline - - - 0 - DNA MLPA, SEQ - - Healthy/Control - PubMed: Steenweg 2010 - F - France - - 0 - - 1 Gajja Salomons
+?/. 1 c.1A>G r.(?) p.0? Parent #1 - likely pathogenic (recessive) g.50778868T>C g.50312150T>C p.(Met1?) - L2HGDH_000083 - PubMed: Steenweg 2010 - - Germline - - - 0 - DNA MLPA, SEQ - - Healthy/Control - PubMed: Steenweg 2010 - M - France - - 0 - - 1 Gajja Salomons
+?/. 1 c.25del r.(?) p.(Val9Leufs*43) Parent #1 - likely pathogenic (recessive) g.50778845del g.50312127del 25delG - L2HGDH_000102 - - - - Germline - - - 0 - DNA SEQ - - L2HGA - - - M - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+?/. 1 c.25del r.(?) p.(Val9Leufs*43) Parent #2 - likely pathogenic (recessive) g.50778845del g.50312127del 25delG - L2HGDH_000102 - - - - Germline - - - 0 - DNA SEQ - - L2HGA - - - M - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+?/. 1 c.25del r.(?) p.(Val9Leufs*43) Parent #1 - likely pathogenic (recessive) g.50778845del g.50312127del 25delG - L2HGDH_000102 - - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - F - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
-/. - c.53T>G r.(?) p.(Leu18Arg) Unknown - benign g.50778816A>C g.50312098A>C L2HGDH(NM_024884.3):c.53T>G (p.L18R) - L2HGDH_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.53T>G r.(?) p.(Leu18Arg) Parent #1 - benign g.50778816A>C g.50312098A>C - - L2HGDH_000079 - rs2275591 - - Germline - 0.49-0.70 - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 Gajja Salomons
-/? 1 c.99G>T r.(?) p.(Arg33Ser) Parent #2 - benign g.50778770C>A g.50312052C>A - - L2HGDH_000080 - rs35710558 - - Germline - 0.04 - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 Gajja Salomons
+?/. - c.140+1G>A r.(?) p.(?) Both (homozygous) ACMG likely pathogenic g.50778728C>T - - - L2HGDH_000129 ACMG grading: PVS1,PM2 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
+/. 1i_4i c.141-1_540+1del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.50760832_50769736del g.50294114_50303018del del exon 2-4 - L2HGDH_000026 L2HG level 2171 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - 0 - DNA SEQ, PCR, MLPA - - L2HGA - PubMed: Steenweg 2010 - M yes France - - 0 - - 1 Gajja Salomons
+/. 1i_4i c.141-1_540+1del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.50760832_50769736del g.50294114_50303018del del exon 2-4 - L2HGDH_000026 L2HG level 815 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - 0 - DNA SEQ, PCR, MLPA - - L2HGA - PubMed: Steenweg 2010 - F yes Spain - - 0 - - 1 Gajja Salomons
+/. 1i_4i c.141-1_540+1del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.50760832_50769736del g.50294114_50303018del del exon 2-4 - L2HGDH_000026 - PubMed: Steenweg 2010 - - Germline - - - 0 - DNA SEQ, PCR, MLPA - - L2HGA - PubMed: Steenweg 2010 - F yes Belgium - - 0 - - 1 Gajja Salomons
?/. - c.148G>A r.(?) p.(Asp50Asn) Unknown - VUS g.50769728C>T - L2HGDH(NM_024884.2):c.148G>A (p.D50N) - L2HGDH_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159C>T r.(?) p.(Ile53=) Unknown - benign g.50769717G>A g.50302999G>A L2HGDH(NM_024884.3):c.159C>T (p.I53=) - L2HGDH_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 consanguineous parents (1st degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - M - Lebanon - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Lebanon - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 1033 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - M no Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #2 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 987 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F no Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #2 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 987 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F no Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 1494 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Both (homozygous) - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 L2HG level 1576 umol/mmol creat PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #2 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.164G>A r.(?) p.(Gly55Asp) Parent #1 - likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 - PubMed: Topcu 2004, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Topcu 2004, OMIM:var0004 - F - Greece - - 0 - - 1 Gajja Salomons
+?/. - c.164G>A r.(?) p.(Gly55Asp) Unknown ACMG likely pathogenic g.50769712C>T g.50302994C>T - - L2HGDH_000027 ACMG grading: PM3,PM2,PP4,PP1 - - rs118204021 Germline - - - 0 - DNA SEQ-NG-S - - - - - - M - - - - 0 - - 1 Andreas Laner
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #1 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #1 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 L2HG level 2723 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F no Netherlands - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #1 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 L2HG level 1192 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F no Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #2 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 L2HG level 1192 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F no Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #1 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - - - Italy - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #1 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 L2HG level 1856 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M no Greece - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #1 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 L2HG level 5243 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F - Brazil - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #2 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - F - Brazil - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #1 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M - Belgium - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #1 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #2 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - M - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #1 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - M yes Macedonia - - 0 - - 1 Gajja Salomons
+?/. 2 c.169G>A r.(?) p.(Gly57Arg) Parent #2 - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - Healthy/Control - PubMed: Vilarinho 2005 - F - Macedonia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #1 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - F - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #2 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - F - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #1 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #2 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #1 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #2 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #1 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #2 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #1 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - F - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.185C>A r.(?) p.(Ala62Asp) Parent #2 - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Larnaout 2008 - F - Tunisia - - 0 - - 1 Gajja Salomons
+/. - c.208C>T r.(?) p.(Arg70Ter) Unknown - pathogenic g.50769668G>A g.50302950G>A L2HGDH(NM_024884.2):c.208C>T (p.R70*), L2HGDH(NM_024884.3):c.208C>T (p.R70*) - L2HGDH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Pakistan - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Germany - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Turkey - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - Venezuela - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 L2HG level 1660 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M no Spain - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 L2HG level 1660 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M no Spain - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 L2HG level 2723 umol/mmol creat PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ, MLPA - - L2HGA - PubMed: Vilarinho 2005 - F no Netherlands - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - - - France - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M - Canada - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M - United States - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - M - United States - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Vilarinho 2005 - F - United States - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #2 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Vilarinho 2005 - M - United States - - 0 - - 1 Gajja Salomons
+/. 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Vilarinho 2005 - F - - - - 0 - - 1 Gajja Salomons
+/. - c.208C>T r.(?) p.(Arg70Ter) Unknown - pathogenic g.50769668G>A - L2HGDH(NM_024884.2):c.208C>T (p.R70*), L2HGDH(NM_024884.3):c.208C>T (p.R70*) - L2HGDH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Both (homozygous) - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 consanguineous parents (1st degree) - yes Turkey - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Both (homozygous) - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies; L2HG level 1703 umol/mmol creat PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F yes Germany - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - - - Netherlands - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - - - Netherlands - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Both (homozygous) - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies; L2HG level 1592 umol/mmol creat PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F yes Netherlands - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - - - France - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - - - France - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - France - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - France - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - Belgium - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - Belgium - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #2 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - M - Tunisia - - 0 - - 1 Gajja Salomons
+?/. 2 c.241A>G r.(?) p.(Lys81Glu) Parent #1 - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - 0 - DNA SEQ - - L2HGA - PubMed: Rzem 2004, PubMed: Rzem 2006 - F - France - - 0 - - 1 Gajja Salomons
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