Unique variants in the L2HGDH gene

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

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 _1_9i c.-1_1196+1del r.0? p.? - pathogenic (recessive) g.50732077_50778871del g.50265359_50312153del del exon 1-9 - L2HGDH_000011 - PubMed: Topcu 2004, OMIM:var0005 - - Germline - - - - - Gajja Salomons
+/. 1 _1_10_ c.-1_*1del r.0? p.0? - pathogenic (recessive) g.50713775_50778869del g.50247057_50312151del del exon 1-10 - L2HGDH_000010 L2HG level 1979 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 2 1 c.1A>C r.(?) p.0? - likely pathogenic (recessive) g.50778868T>G g.50312150T>G p.(Met1?) - L2HGDH_000082 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 4 1 c.1A>G r.(?) p.0? - likely pathogenic (recessive) g.50778868T>C g.50312150T>C p.(Met1?) - L2HGDH_000083 L2HG level 888 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 3 1 c.25del r.(?) p.(Val9Leufs*43) - likely pathogenic (recessive) g.50778845del g.50312127del 25delG - L2HGDH_000102 - - - - Germline - - - - - Gajja Salomons
-/. 2 1 c.53T>G r.(?) p.(Leu18Arg) - benign g.50778816A>C g.50312098A>C L2HGDH(NM_024884.3):c.53T>G (p.L18R) - L2HGDH_000079 VKGL data sharing initiative Nederland rs2275591 - - CLASSIFICATION record, Germline - 0.49-0.70 - - - Gajja Salomons, VKGL-NL_Groningen
-/? 1 1 c.99G>T r.(?) p.(Arg33Ser) - benign g.50778770C>A g.50312052C>A - - L2HGDH_000080 - rs35710558 - - Germline - 0.04 - - - Gajja Salomons
+?/. 1 - c.140+1G>A r.(?) p.(?) ACMG likely pathogenic g.50778728C>T - - - L2HGDH_000129 ACMG grading: PVS1,PM2 - - - Germline - - - - - Andreas Laner
+/. 3 1i_4i c.141-1_540+1del r.spl? p.? - pathogenic (recessive) g.50760832_50769736del g.50294114_50303018del del exon 2-4 - L2HGDH_000026 L2HG level 2171 umol/mmol creat, L2HG level 815 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
?/. 1 - c.148G>A r.(?) p.(Asp50Asn) - VUS g.50769728C>T - L2HGDH(NM_024884.2):c.148G>A (p.D50N) - L2HGDH_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.159C>T r.(?) p.(Ile53=) - 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 - - - - - VKGL-NL_Groningen
+?/. 18 2 c.164G>A r.(?) p.(Gly55Asp) ACMG likely pathogenic, likely pathogenic (recessive) g.50769712C>T g.50302994C>T - - L2HGDH_000027 ACMG grading: PM3,PM2,PP4,PP1, L2HG level 1033 umol/mmol creat, L2HG level 1494 umol/mmol creat, 2 more items PubMed: Topcu 2004, OMIM:var0004 - rs118204021 Germline - - - - - Andreas Laner, Gajja Salomons
+?/. 13 2 c.169G>A r.(?) p.(Gly57Arg) - likely pathogenic (recessive) g.50769707C>T g.50302989C>T - - L2HGDH_000028 L2HG level 1192 umol/mmol creat, L2HG level 1856 umol/mmol creat, L2HG level 2723 umol/mmol creat, 1 more item PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons
+?/. 10 2 c.185C>A r.(?) p.(Ala62Asp) - likely pathogenic (recessive) g.50769691G>T g.50302973G>T - - L2HGDH_000081 - PubMed: Larnaout 2008 - - Germline - - - - - Gajja Salomons
+/. 23 2 c.208C>T r.(?) p.(Arg70*), p.(Arg70Ter) - pathogenic, pathogenic (recessive) 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 L2HG level 1660 umol/mmol creat, L2HG level 2723 umol/mmol creat, 1 more item PubMed: Vilarinho 2005 - - CLASSIFICATION record, Germline - - - - - Gajja Salomons, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+?/. 27 2 c.241A>G r.(?) p.(Lys81Glu) - likely pathogenic (recessive) g.50769635T>C g.50302917T>C - - L2HGDH_000030 pathogenicity proven by overexpression studies, 4 more items PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.246G>A r.(?) p.(Glu82=) - likely benign g.50769630C>T - L2HGDH(NM_024884.2):c.246G>A (p.E82=) - L2HGDH_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 2 c.256+1G>A r.spl p.? - likely pathogenic (recessive) g.50769619C>T g.50302901C>T - - L2HGDH_000058 exon 02 skipping - - - Germline - - - - - Enzo Cohen
+/. 1 2i c.257-2A>G r.spl p.? - pathogenic (recessive) g.50768888T>C g.50302170T>C - - L2HGDH_000031 - PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons
+?/. 5 3 c.292C>T r.(?) p.(His98Tyr) - likely pathogenic (recessive) g.50768851G>A g.50302133G>A - - L2HGDH_000033 L2HG level 1410 umol/mmol creat PubMed: Topcu 2004 - - Germline - - - - - Gajja Salomons
+?/. 12 3 c.293A>G r.(?) p.(His98Arg) - likely pathogenic (recessive) g.50768850T>C g.50302132T>C - - L2HGDH_000034 - PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons
+/. 2 3 c.320_341del r.(?) p.(Ser107Tyrfs*25) - pathogenic (recessive) g.50768804_50768825del g.50302086_50302107del - - L2HGDH_000035 L2HG level 1874 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+/. 2 3 c.339T>A r.(?) p.(Cys113*) - pathogenic (recessive) g.50768804A>T g.50302086A>T - - L2HGDH_000099 - - - - Germline - - - - - Gajja Salomons
-?/. 1 - c.342A>T r.(?) p.(Val114=) - likely benign g.50768801T>A - L2HGDH(NM_024884.2):c.342A>T (p.V114=) - L2HGDH_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 7 3 c.347G>A r.(?) p.(Gly116Asp) - likely pathogenic (recessive) g.50768796C>T g.50302078C>T - - L2HGDH_000036 L2HG level 2217 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+/. 1 3 c.358_360del r.(?) p.(Leu120del) - pathogenic (recessive) g.50768787_50768789del g.50302069_50302071del 358_360delCTC - L2HGDH_000037 L2HG level 3357 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+/. 1 3 c.382G>T r.(?) p.(Gly128*) - pathogenic (recessive) g.50768761C>A g.50302043C>A - - L2HGDH_000038 L2HG level 3162 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 2 3i c.408+2_408+6del r.spl p.? - likely pathogenic (recessive) g.50768731_50768735del g.50302013_50302017del 408+1_408+5delGTATG - L2HGDH_000039 - PubMed: Sass 2008 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.409-4_409del r.spl? p.? - likely benign g.50760964_50760968del g.50294246_50294250del L2HGDH(NM_024884.2):c.409-4_409del (p.?) - L2HGDH_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 3i_9i c.409-1_1196+1del r.spl? p.? - pathogenic (recessive) g.50732075_50760965del g.50265357_50294247del del exon 4-9 - L2HGDH_000040 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
-?/? 4 4 c.418G>C r.(?) p.Ala140Pro - likely benign g.50760955C>G g.50294237C>G - - L2HGDH_000087 L2HGDH_activity 8, no variant 2nd allele {PMID19005678; Jequier Gygax 2009}, PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
?/. 1 - c.444A>C r.(?) p.(Arg148Ser) - VUS g.50760929T>G g.50294211T>G L2HGDH(NM_024884.2):c.444A>C (p.R148S) - L2HGDH_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 4 c.459T>A r.(?) p.(Tyr153*) - pathogenic (recessive) g.50760914A>T g.50294196A>T - - L2HGDH_000042 L2HG level 894 umol/mmol creat PubMed: Topcu 2004 - - Germline - - - - - Gajja Salomons
+?/. 4 4 c.467G>T r.(?) p.(Gly156Val) - likely pathogenic (recessive) g.50760906C>A g.50294188C>A - - L2HGDH_000043 - PubMed: Sass 2008 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.510G>A r.(?) p.(Glu170=) - likely benign g.50760863C>T g.50294145C>T L2HGDH(NM_024884.2):c.510G>A (p.E170=) - L2HGDH_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 4 c.527A>G r.(?) p.(Glu176Gly) - likely pathogenic (recessive) g.50760846T>C g.50294128T>C - - L2HGDH_000095 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 16 4 c.528G>T r.(?) p.(Glu176Asp) - likely pathogenic (recessive) g.50760845C>A g.50294127C>A - - L2HGDH_000045 pathogenicity proven by overexpression studies PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - Gajja Salomons
+/. 51 4 c.530_533delinsATT r.(?) p.Pro177Hisfs*6 - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 L2HG level 2138 umol/mmol creat, L2HG level 2352 umol/mmol creat, L2HG level 2416 umol/mmol creat, 3 more items PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons, Enzo Cohen
-/. 1 4 c.533A>T r.(?) p.(Tyr178Phe) - benign g.50760840T>A g.50294122T>A - - L2HGDH_000086 - PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons
+?/. 1 4 c.535T>C r.(?) p.(Cys179Arg) - likely pathogenic (recessive) g.50760838A>G g.50294120A>G - - L2HGDH_000047 L2HG level 2177 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 1 4i c.540+5G>C r.spl? p.? - likely pathogenic (recessive) g.50760828C>G g.50294110C>G - - L2HGDH_000048 L2HG level 888 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+/. 1 4i_5i c.541-1_703+1del r.spl? p.? - pathogenic (recessive) g.50750588_50750752del g.50283870_50284034del del ex5 - L2HGDH_000049 L2HG level 2177 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 2 5 c.551C>T r.(?) p.(Ala184Val) - likely pathogenic (recessive) g.50750741G>A g.50284023G>A - - L2HGDH_000050 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 2 5 c.557_560del r.(?) p.(Asp186Valfs*28) - likely pathogenic (recessive) g.50750736_50750739del g.50284018_50284021del 557_560delATTG - L2HGDH_000051 - PubMed: Sass 2008 - - Germline - - - - - Gajja Salomons
+?/. 1 5 c.560G>A r.(?) p.(Cys187Tyr) - likely pathogenic (recessive) g.50750732C>T g.50284014C>T - - L2HGDH_000103 - - - - Germline - - - - - Gajja Salomons
+?/. 2 5 c.584A>G r.(?) p.(Tyr195Cys) - likely pathogenic, likely pathogenic (recessive) g.50750708T>C g.50283990T>C - - L2HGDH_000052 - PubMed: Sass 2008 - - Germline, Unknown - - - - - IMGAG, Gajja Salomons
+/. 2 5 c.589C>T r.(?) p.(Gln197*) - pathogenic (recessive) g.50750703G>A g.50283985G>A - - L2HGDH_000053 L2HG level 394 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
-/. 1 - c.593T>G r.(?) p.(Val198Gly) - benign g.50750699A>C g.50283981A>C L2HGDH(NM_024884.3):c.593T>G (p.V198G) - L2HGDH_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 5 c.601del r.(?) p.(Ser201Hisfs*14) - likely pathogenic (recessive) g.50750691del g.50283973del p.Ser201HisfsX214 - L2HGDH_000054 - PubMed: Sass 2008 - - Germline - - - - - Gajja Salomons
+/. 2 5 c.610C>T r.(?) p.(Gln204*) - pathogenic (recessive) g.50750682G>A g.50283964G>A - - L2HGDH_000055 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
-/. 1 5 c.627A>G r.(?) p.(=) - benign g.50750665T>C g.50283947T>C - - L2HGDH_000089 - PubMed: Rzem 2004 - - Germline - - - - - Gajja Salomons
+?/. 2 5 c.632G>A r.(?) p.(Gly211Asp) - likely pathogenic (recessive) g.50750660C>T g.50283942C>T - - L2HGDH_000056 L2HG level 2013 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 7 5 c.632G>T r.(?) p.(Gly211Val) - likely pathogenic (recessive) g.50750660C>A g.50283942C>A - - L2HGDH_000057 L2HG level 1856 umol/mmol creat, L2HG level 2128 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
?/. 1 - c.647A>G r.(?) p.(Asn216Ser) - VUS g.50750645T>C g.50283927T>C L2HGDH(NM_024884.2):c.647A>G (p.(Asn216Ser)) - L2HGDH_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.703+12T>C r.(=) p.(=) - benign g.50750577A>G g.50283859A>G L2HGDH(NM_024884.3):c.703+12T>C - L2HGDH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 5i_6i c.704-1_738+1del r.spl? p.? - pathogenic (recessive) g.50745237_50745273del g.50278519_50278555del del ex6 - L2HGDH_000059 L2HG level 2628 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 2 6 c.738G>C r.spl? p.(Lys246Asn) - likely pathogenic (recessive) g.50745238C>G g.50278520C>G - - L2HGDH_000061 1 more item {PMID19005678; Jequier Gygax 2009}, PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+/. 1 6i c.738+1G>A r.spl p.? - pathogenic (recessive) g.50745237C>T g.50278519C>T - - L2HGDH_000060 L2HG level 1580 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.739-5A>G r.spl? p.? - likely benign g.50736053T>C - L2HGDH(NM_024884.3):c.739-5A>G - L2HGDH_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 4 6i c.739-2A>G r.spl, r.spl? p.? - pathogenic, pathogenic (recessive) g.50736050T>C g.50269332T>C L2HGDH(NM_024884.2):c.739-2A>G (p.?) - L2HGDH_000062 L2HG level 1033 umol/mmol creat, VKGL data sharing initiative Nederland PubMed: Topcu 2004 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Gajja Salomons
+?/. 1 6i_8i c.739-1_1063+1del r.739_1063del p.247_355del - likely pathogenic (recessive) g.50734471_50736049del - - - L2HGDH_000084 1 more item - - - Germline - - - - - Enzo Cohen
+/., +?/. 11 7 c.751C>T r.(?) p.(Arg251*) - likely pathogenic (recessive), pathogenic (recessive) g.50736036G>A g.50269318G>A - - L2HGDH_000063 L2HG level 1732 umol/mmol creat, no variant 2nd allele PubMed: Sass 2008 - - Germline - - - - - Gajja Salomons
+?/. 3 7 c.779G>C r.(?) p.(Gly260Ala) - likely pathogenic (recessive) g.50736008C>G g.50269290C>G - - L2HGDH_000064 L2HG level 1804 umol/mmol creat, L2HG level 911 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 1 7 c.779G>T r.(?) p.(Gly260Val) - likely pathogenic (recessive) g.50736008C>A g.50269290C>A - - L2HGDH_000065 L2HG level 1928 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+/. 2 7 c.788C>G r.(?) p.(Ser263*) - pathogenic (recessive) g.50735999G>C g.50269281G>C - - L2HGDH_000066 L2HG level 1354 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 12 7 c.788C>T r.(?) p.(Ser263Leu) - likely pathogenic (recessive) g.50735999G>A g.50269281G>A - - L2HGDH_000067 - PubMed: Sass 2008 - - Germline - - - - - Gajja Salomons
+?/. 1 7 c.802G>T r.(?) p.(Glu268*) - likely pathogenic (recessive) g.50735985C>A g.50269267C>A - - L2HGDH_000068 - PubMed: Sass 2008 - - Germline - - - - - Gajja Salomons
+/. 6 7 c.829C>T r.(?) p.(Arg277*), p.(Arg277Ter) - pathogenic, pathogenic (recessive) g.50735958G>A g.50269240G>A - - L2HGDH_000069 L2HG level 888 umol/mmol creat PubMed: Ganapathy 2019, PubMed: Steenweg 2010 - - Germline - - - - - Johan den Dunnen, Gajja Salomons
-/. 1 7 c.840A>G r.(?) p.(=) - benign g.50735947T>C g.50269229T>C - - L2HGDH_000090 5/210 alleles PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 7 7 c.844C>T r.(?) p.(Arg282Trp) - likely pathogenic (recessive) g.50735943G>A g.50269225G>A - - L2HGDH_000070 L2HG level 2148 umol/mmol creat, L2HG level 951 umol/mmol creat, no variant 2nd allele PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 1 7 c.845G>A r.(?) p.(Arg282Gln) - likely pathogenic (recessive) g.50735942C>T g.50269224C>T - - L2HGDH_000071 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
?/? 1 7 c.847_853delinsTACC r.(?) p.(Gly283_Tyr285delinsTyrHis) - VUS g.50735934_50735940delinsGGTA g.50269216_50269222delinsGGTA - - L2HGDH_000041 - - - - Germline - - - - - Enzo Cohen
-/. 1 7 c.852T>C r.(?) p.(=) - benign g.50735935A>G g.50269217A>G - - L2HGDH_000091 0/210 alleles PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 2 7 c.887T>A r.(?) p.(Val296Glu) - likely pathogenic (recessive) g.50735900A>T g.50269182A>T - - L2HGDH_000096 - {PMID 18671189:Haliloglu 2008} - - Germline - - - - - Gajja Salomons
+/. 6 7 c.903T>G r.(?) p.(Tyr301*) - pathogenic (recessive) g.50735884A>C g.50269166A>C - - L2HGDH_000072 L2HG level 1375 umol/mmol creat, L2HG level 1991 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 19 7 c.905C>T r.(?) p.(Pro302Leu) - likely pathogenic (recessive) g.50735882G>A g.50269164G>A - - L2HGDH_000073 L2HG level 1084 umol/mmol creat, L2HG level 1460 umol/mmol creat, L2HG level 1742 umol/mmol creat, 4 more items PubMed: Topcu 2004, OMIM:var0001 - - Germline - - - - - Gajja Salomons
+/. 3 7i c.906+1G>T r.spl p.? - pathogenic (recessive) g.50735880C>A g.50269162C>A - - L2HGDH_000074 L2HG level 1430 umol/mmol creat PubMed: Topcu 2004, OMIM:var0003 - - Germline - - - - - Gajja Salomons
-/. 1 7i c.906+34dup r.(?) p.(=) - benign g.50735853dup g.50269135dup 906+34dupT - L2HGDH_000092 - PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons
+/. 1 7i c.906+354G>A r.[906+354g>a; r.906_907ins906+205_906+350] p.(=) - pathogenic (recessive) g.50735527C>T g.50268809C>T - - L2HGDH_000075 L2HG level 1732 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+/. 2 7i c.907-2A>G r.spl p.? - pathogenic (recessive) g.50734630T>C g.50267912T>C 908-2A>G - L2HGDH_000076 - PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons
?/? 2 8 c.935_937del r.(?) p.(Gly312del) - VUS g.50734600_50734602del g.50267882_50267884del 934_936delGGA - L2HGDH_000085 - - - - Germline - - - - - Enzo Cohen
+/. 2 8 c.959del r.(?) p.(Asp320Valfs*6) - pathogenic (recessive) g.50734576del g.50267858del 959delA - L2HGDH_000078 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
?/+ 2 8 c.971G>A r.(?) p.(Trp324*) - VUS g.50734564C>T g.50267846C>T - - L2HGDH_000111 - - - - Germline - - - - - Wanjin Chen
+/. 8 8 c.1003C>T r.(?) p.(Arg335*) - pathogenic (recessive) g.50734532G>A g.50267814G>A - - L2HGDH_000012 L2HG level 3162 umol/mmol creat PubMed: Topcu 2004 - - Germline - - - - - Gajja Salomons
+?/., ?/. 6 8 c.1006G>A r.(?) p.(Glu336Lys) - likely pathogenic (recessive), VUS g.50734529C>T g.50267811C>T L2HGDH(NM_024884.2):c.1006G>A (p.(Glu336Lys)) - L2HGDH_000013 L2HG level 687 umol/mmol creat, VKGL data sharing initiative Nederland PubMed: Steenweg 2010 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Gajja Salomons
+/. 3 8 c.1012dup r.(?) p.(Tyr338Leufs*5) - pathogenic (recessive) g.50734524dup g.50267806dup 1012dupT - L2HGDH_000014 L2HG level 2632 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons, Enzo Cohen
+/., +?/. 5 8 c.1015del r.(?) p.(Arg339Aspfs*13) ACMG likely pathogenic (recessive), pathogenic g.50734520del g.50267802del 1015delA - L2HGDH_000015 - PubMed: Sass 2008, PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano, Gajja Salomons
+/. 1 8 c.1026_1037del r.(?) p.(Asp342_Thr346delins342Glu) - pathogenic (recessive) g.50734498_50734509del g.50267780_50267791del 1026_1037delCTTCAGTGCCAC - L2HGDH_000016 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
+?/. 1 8i_91 c.1065-153_1196+1249del r.? p.? - likely pathogenic (recessive) g.50730849_50732382del g.50264131_50265664del del exon 9 - L2HGDH_000017 breakpoint identified PubMed: Rzem 2004, PubMed: Rzem 2006 - - Germline - - - - - Gajja Salomons
-/., -?/-? 2 9 c.1100A>G r.(?) p.(Tyr367Cys) - benign, likely benign g.50732172T>C g.50265454T>C - - L2HGDH_000018 27 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Steenweg 2010 - rs115954396 Germline - 27/2792 individuals - - - Gajja Salomons, Mohammed Faruq
+/. 24 9 c.1107del r.(?) p.(Met372Serfs*11), p.(Thr370Leufs*13) - pathogenic (recessive) g.50732166del g.50265448del 1107delT, 1115delT - L2HGDH_000019 - PubMed: Topcu 2004, OMIM:var0002 - - Germline - - - - - Gajja Salomons
+/. 1 9i c.1196+1G>A r.spl p.? - pathogenic (recessive) g.50732075C>T g.50265357C>T - - L2HGDH_000098 - - - - Germline - - - - - Gajja Salomons
+/. 2 9i c.1196+3A>C r.1196_1197ins1196+1_1196+56 p.? - pathogenic (recessive) g.50732073T>G g.50265355T>G - - L2HGDH_000020 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
-/. 1 9i c.1196+13G>C r.(?) p.(=) - benign g.50732063C>G g.50265345C>G - - L2HGDH_000093 - PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons
-/. 1 9i c.1196+34C>G r.(?) p.(=) - benign g.50732042G>C g.50265324G>C - - L2HGDH_000094 - PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons
+/. 5 9i_10_ c.1197-1_*1del r.spl? p.? - pathogenic (recessive) g.50713776_50713973del g.50247058_50247255del del ex10 - L2HGDH_000021 L2HG level 1401 umol/mmol creat PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
?/. 1 - c.1214G>A r.(?) p.(Arg405Lys) - VUS g.50713954C>T g.50247236C>T L2HGDH(NM_024884.2):c.1214G>A (p.(Arg405Lys)) - L2HGDH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 2 10 c.1217C>T r.(?) p.(Ala406Val) - likely pathogenic (recessive) g.50713951G>A g.50247233G>A - - L2HGDH_000022 - PubMed: Steenweg 2010 - - Germline - - - - - Gajja Salomons
?/. 1 - c.1268C>G r.(?) p.(Ala423Gly) - VUS g.50713900G>C g.50247182G>C L2HGDH(NM_024884.3):c.1268C>G (p.A423G) - L2HGDH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 4 10 c.1301A>C r.(?) p.(His434Pro) - likely pathogenic (recessive) g.50713867T>G g.50247149T>G - - L2HGDH_000023 - PubMed: Vilarinho 2005 - - Germline - - - - - Gajja Salomons
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