1 |
L2HGDH |
NM_024884.3(L2HGDH):c.906+1G>T |
SNV |
Pathogenic
|
1609 |
rs786200870 |
GRCh37: 14:50735880-50735880 GRCh38: 14:50269162-50269162 |
2 |
L2HGDH |
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp) |
SNV |
Pathogenic
|
1610 |
rs118204021 |
GRCh37: 14:50769712-50769712 GRCh38: 14:50302994-50302994 |
3 |
overlap with 6 genes |
L2HGDH, EX1-9DEL |
DEL |
Pathogenic
|
1611 |
|
GRCh37: GRCh38: 14:50000000-50247254 |
4 |
L2HGDH |
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg) |
SNV |
Pathogenic
|
1612 |
rs267607206 |
GRCh37: 14:50768850-50768850 GRCh38: 14:50302132-50302132 |
5 |
L2HGDH |
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter) |
SNV |
Pathogenic
|
30793 |
rs387907013 |
GRCh37: 14:50734532-50734532 GRCh38: 14:50267814-50267814 |
6 |
L2HGDH |
NM_024884.3(L2HGDH):c.709C>T (p.Gln237Ter) |
SNV |
Pathogenic
|
931549 |
rs1890096157 |
GRCh37: 14:50745267-50745267 GRCh38: 14:50278549-50278549 |
7 |
L2HGDH |
NM_024884.3(L2HGDH):c.408+1G>C |
SNV |
Pathogenic
|
873014 |
rs2030438427 |
GRCh37: 14:50768734-50768734 GRCh38: 14:50302016-50302016 |
8 |
L2HGDH |
NM_024884.3(L2HGDH):c.140+726del |
DEL |
Pathogenic
|
1339478 |
|
GRCh37: 14:50778003-50778003 GRCh38: 14:50311285-50311285 |
9 |
L2HGDH |
NM_024884.3(L2HGDH):c.1065-13_1196+207del |
DEL |
Pathogenic
|
973586 |
rs1889265791 |
GRCh37: 14:50731869-50732220 GRCh38: 14:50265151-50265502 |
10 |
L2HGDH |
NM_024884.3(L2HGDH):c.959del (p.Asp320fs) |
DEL |
Pathogenic
|
1299481 |
|
GRCh37: 14:50734576-50734576 GRCh38: 14:50267858-50267858 |
11 |
L2HGDH |
NM_024884.3(L2HGDH):c.853del (p.Tyr285fs) |
DEL |
Pathogenic
|
1448939 |
|
GRCh37: 14:50735934-50735934 GRCh38: 14:50269216-50269216 |
12 |
L2HGDH |
NC_000014.8:g.(?_50778709)_(50778888_?)del |
DEL |
Pathogenic
|
1070154 |
|
GRCh37: 14:50778709-50778888 GRCh38: |
13 |
L2HGDH |
NM_024884.3(L2HGDH):c.530del (p.Pro177fs) |
DEL |
Pathogenic
|
567343 |
rs766538932 |
GRCh37: 14:50760843-50760843 GRCh38: 14:50294125-50294125 |
14 |
L2HGDH |
NC_000014.9:g.(?_50267733)_(50269350_?)del |
DEL |
Pathogenic
|
831656 |
|
GRCh37: 14:50734451-50736068 GRCh38: |
15 |
L2HGDH |
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) |
DEL |
Pathogenic
|
1608 |
rs786200869 |
GRCh37: 14:50732157-50732157 GRCh38: 14:50265439-50265439 |
16 |
L2HGDH |
NM_024884.3(L2HGDH):c.465del (p.Gly156fs) |
DEL |
Pathogenic
|
211348 |
rs797045678 |
GRCh37: 14:50760908-50760908 GRCh38: 14:50294190-50294190 |
17 |
L2HGDH |
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs) |
DEL |
Pathogenic
|
435701 |
rs1555328749 |
GRCh37: 14:50734520-50734520 GRCh38: 14:50267802-50267802 |
18 |
L2HGDH |
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter) |
SNV |
Pathogenic
|
580563 |
rs937345512 |
GRCh37: 14:50769668-50769668 GRCh38: 14:50302950-50302950 |
19 |
L2HGDH |
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter) |
SNV |
Pathogenic
|
863865 |
rs752025180 |
GRCh37: 14:50735958-50735958 GRCh38: 14:50269240-50269240 |
20 |
L2HGDH |
NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter) |
SNV |
Pathogenic
|
1028352 |
rs1889521207 |
GRCh37: 14:50735884-50735884 GRCh38: 14:50269166-50269166 |
21 |
L2HGDH, DMAC2L |
NM_024884.3(L2HGDH):c.1A>G (p.Met1Val) |
SNV |
Pathogenic
|
1342871 |
rs1477101414 |
GRCh37: 14:50778868-50778868 GRCh38: 14:50312150-50312150 |
22 |
L2HGDH |
NM_024884.3(L2HGDH):c.256+1G>A |
SNV |
Pathogenic/Likely Pathogenic
|
379781 |
rs150299874 |
GRCh37: 14:50769619-50769619 GRCh38: 14:50302901-50302901 |
23 |
L2HGDH |
NM_024884.3(L2HGDH):c.368A>G (p.Tyr123Cys) |
SNV |
Likely Pathogenic
|
1709367 |
|
GRCh37: 14:50768775-50768775 GRCh38: 14:50302057-50302057 |
24 |
L2HGDH |
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) |
SNV |
Likely Pathogenic
|
1607 |
rs118204020 |
GRCh37: 14:50735882-50735882 GRCh38: 14:50269164-50269164 |
25 |
L2HGDH |
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) |
SNV |
Likely Pathogenic
|
435700 |
rs887386390 |
GRCh37: 14:50750708-50750708 GRCh38: 14:50283990-50283990 |
26 |
L2HGDH |
NM_024884.3(L2HGDH):c.408+14T>C |
SNV |
Conflicting Interpretations Of Pathogenicity
|
1028350 |
rs77736285 |
GRCh37: 14:50768721-50768721 GRCh38: 14:50302003-50302003 |
27 |
L2HGDH |
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
158800 |
rs564306903 |
GRCh37: 14:50750665-50750665 GRCh38: 14:50283947-50283947 |
28 |
L2HGDH |
NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg) |
SNV |
Uncertain Significance
|
571395 |
rs1273518496 |
GRCh37: 14:50734503-50734503 GRCh38: 14:50267785-50267785 |
29 |
L2HGDH, DMAC2L |
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser) |
SNV |
Uncertain Significance
|
576215 |
rs749417358 |
GRCh37: 14:50778799-50778799 GRCh38: 14:50312081-50312081 |
30 |
L2HGDH |
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg) |
SNV |
Uncertain Significance
|
641569 |
rs140209047 |
GRCh37: 14:50768868-50768868 GRCh38: 14:50302150-50302150 |
31 |
L2HGDH |
NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln) |
SNV |
Uncertain Significance
|
841222 |
rs765312282 |
GRCh37: 14:50735942-50735942 GRCh38: 14:50269224-50269224 |
32 |
L2HGDH |
NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys) |
SNV |
Uncertain Significance
|
849499 |
rs754748944 |
GRCh37: 14:50713796-50713796 GRCh38: 14:50247078-50247078 |
33 |
L2HGDH |
NM_024884.3(L2HGDH):c.833T>C (p.Ile278Thr) |
SNV |
Uncertain Significance
|
1028351 |
rs763449413 |
GRCh37: 14:50735954-50735954 GRCh38: 14:50269236-50269236 |
34 |
L2HGDH |
NM_024884.3(L2HGDH):c.779G>T (p.Gly260Val) |
SNV |
Uncertain Significance
|
947758 |
rs776859735 |
GRCh37: 14:50736008-50736008 GRCh38: 14:50269290-50269290 |
35 |
L2HGDH |
NM_024884.3(L2HGDH):c.574A>G (p.Ile192Val) |
SNV |
Uncertain Significance
|
966753 |
rs755942764 |
GRCh37: 14:50750718-50750718 GRCh38: 14:50284000-50284000 |
36 |
L2HGDH |
NM_024884.3(L2HGDH):c.152T>C (p.Ile51Thr) |
SNV |
Uncertain Significance
|
1018292 |
rs760247218 |
GRCh37: 14:50769724-50769724 GRCh38: 14:50303006-50303006 |
37 |
L2HGDH |
NM_024884.3(L2HGDH):c.713A>G (p.Tyr238Cys) |
SNV |
Uncertain Significance
|
1301784 |
|
GRCh37: 14:50745263-50745263 GRCh38: 14:50278545-50278545 |
38 |
L2HGDH |
NM_024884.3(L2HGDH):c.258T>A (p.Ala86=) |
SNV |
Uncertain Significance
|
1360289 |
|
GRCh37: 14:50768885-50768885 GRCh38: 14:50302167-50302167 |
39 |
L2HGDH |
NM_024884.3(L2HGDH):c.289A>T (p.Ile97Leu) |
SNV |
Uncertain Significance
|
1389039 |
|
GRCh37: 14:50768854-50768854 GRCh38: 14:50302136-50302136 |
40 |
L2HGDH |
NM_024884.3(L2HGDH):c.486G>A (p.Pro162=) |
SNV |
Uncertain Significance
|
1384006 |
|
GRCh37: 14:50760887-50760887 GRCh38: 14:50294169-50294169 |
41 |
L2HGDH |
NM_024884.3(L2HGDH):c.274C>T (p.His92Tyr) |
SNV |
Uncertain Significance
|
1394858 |
|
GRCh37: 14:50768869-50768869 GRCh38: 14:50302151-50302151 |
42 |
L2HGDH |
NM_024884.3(L2HGDH):c.1267G>A (p.Ala423Thr) |
SNV |
Uncertain Significance
|
1044003 |
rs1888055860 |
GRCh37: 14:50713901-50713901 GRCh38: 14:50247183-50247183 |
43 |
L2HGDH |
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) |
SNV |
Uncertain Significance
|
435690 |
rs150157112 |
GRCh37: 14:50732095-50732095 GRCh38: 14:50265377-50265377 |
44 |
L2HGDH |
NM_024884.3(L2HGDH):c.794G>A (p.Arg265His) |
SNV |
Uncertain Significance
|
862846 |
rs748747271 |
GRCh37: 14:50735993-50735993 GRCh38: 14:50269275-50269275 |
45 |
L2HGDH |
NM_024884.3(L2HGDH):c.433G>A (p.Glu145Lys) |
SNV |
Uncertain Significance
|
1010897 |
rs1403658578 |
GRCh37: 14:50760940-50760940 GRCh38: 14:50294222-50294222 |
46 |
L2HGDH |
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) |
SNV |
Uncertain Significance
|
579954 |
rs368140834 |
GRCh37: 14:50750706-50750706 GRCh38: 14:50283988-50283988 |
47 |
L2HGDH |
NM_024884.3(L2HGDH):c.530C>T (p.Pro177Leu) |
SNV |
Uncertain Significance
|
1522731 |
|
GRCh37: 14:50760843-50760843 GRCh38: 14:50294125-50294125 |
48 |
L2HGDH |
NM_024884.3(L2HGDH):c.738G>A (p.Lys246=) |
SNV |
Uncertain Significance
|
1007053 |
rs771091083 |
GRCh37: 14:50745238-50745238 GRCh38: 14:50278520-50278520 |
49 |
L2HGDH |
NM_024884.3(L2HGDH):c.1199G>A (p.Gly400Asp) |
SNV |
Uncertain Significance
|
1334028 |
|
GRCh37: 14:50713969-50713969 GRCh38: 14:50247251-50247251 |
50 |
L2HGDH |
NM_024884.3(L2HGDH):c.1376A>G (p.Gln459Arg) |
SNV |
Uncertain Significance
|
1032202 |
rs375890787 |
GRCh37: 14:50713792-50713792 GRCh38: 14:50247074-50247074 |