1 |
MMACHC
|
NM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs)
|
duplication |
Pathogenic |
rs398124292
|
GRCh38 |
Chromosome 1, 45507545: 45507545 |
2 |
MMACHC
|
NM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs)
|
duplication |
Pathogenic |
rs398124292
|
GRCh37 |
Chromosome 1, 45973217: 45973217 |
3 |
MTRR
|
NM_002454.2(MTRR): c.66A> G (p.Ile22Met)
|
single nucleotide variant |
drug response |
rs1801394
|
GRCh37 |
Chromosome 5, 7870973: 7870973 |
4 |
MTRR
|
NM_002454.2(MTRR): c.66A> G (p.Ile22Met)
|
single nucleotide variant |
drug response |
rs1801394
|
GRCh38 |
Chromosome 5, 7870860: 7870860 |
5 |
MMACHC
|
NM_015506.2(MMACHC): c.321G> A (p.Val107=)
|
single nucleotide variant |
Benign |
rs2275276
|
GRCh37 |
Chromosome 1, 45973928: 45973928 |
6 |
MMACHC
|
NM_015506.2(MMACHC): c.321G> A (p.Val107=)
|
single nucleotide variant |
Benign |
rs2275276
|
GRCh38 |
Chromosome 1, 45508256: 45508256 |
7 |
LMBRD1
|
NM_018368.3(LMBRD1): c.1407T> A (p.Asp469Glu)
|
single nucleotide variant |
Benign |
rs12648
|
GRCh37 |
Chromosome 6, 70407465: 70407465 |
8 |
LMBRD1
|
NM_018368.3(LMBRD1): c.1407T> A (p.Asp469Glu)
|
single nucleotide variant |
Benign |
rs12648
|
GRCh38 |
Chromosome 6, 69697573: 69697573 |
9 |
MMACHC
|
NM_015506.2(MMACHC): c.178G> C (p.Asp60His)
|
single nucleotide variant |
Benign/Likely benign |
rs6662272
|
GRCh37 |
Chromosome 1, 45973124: 45973124 |
10 |
MMACHC
|
NM_015506.2(MMACHC): c.178G> C (p.Asp60His)
|
single nucleotide variant |
Benign/Likely benign |
rs6662272
|
GRCh38 |
Chromosome 1, 45507452: 45507452 |
11 |
MMACHC
|
NM_015506.2(MMACHC): c.738C> T (p.Pro246=)
|
single nucleotide variant |
Benign/Likely benign |
rs16832550
|
GRCh37 |
Chromosome 1, 45974776: 45974776 |
12 |
MMACHC
|
NM_015506.2(MMACHC): c.738C> T (p.Pro246=)
|
single nucleotide variant |
Benign/Likely benign |
rs16832550
|
GRCh38 |
Chromosome 1, 45509104: 45509104 |
13 |
MTR
|
NM_000254.2(MTR): c.3474G> A (p.Leu1158=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs142113735
|
GRCh37 |
Chromosome 1, 237058726: 237058726 |
14 |
MTR
|
NM_000254.2(MTR): c.3474G> A (p.Leu1158=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs142113735
|
GRCh38 |
Chromosome 1, 236895426: 236895426 |
15 |
MTR
|
NM_000254.2(MTR): c.3492C> A (p.Arg1164=)
|
single nucleotide variant |
Benign |
rs12070777
|
GRCh37 |
Chromosome 1, 237058744: 237058744 |
16 |
MTR
|
NM_000254.2(MTR): c.3492C> A (p.Arg1164=)
|
single nucleotide variant |
Benign |
rs12070777
|
GRCh38 |
Chromosome 1, 236895444: 236895444 |
17 |
MTR
|
NM_000254.2(MTR): c.3576C> T (p.Leu1192=)
|
single nucleotide variant |
Benign |
rs1131449
|
GRCh37 |
Chromosome 1, 237058828: 237058828 |
18 |
MTR
|
NM_000254.2(MTR): c.3576C> T (p.Leu1192=)
|
single nucleotide variant |
Benign |
rs1131449
|
GRCh38 |
Chromosome 1, 236895528: 236895528 |
19 |
MTR
|
NM_000254.2(MTR): c.3711+15G> T
|
single nucleotide variant |
Benign |
rs3820571
|
GRCh37 |
Chromosome 1, 237060433: 237060433 |
20 |
MTR
|
NM_000254.2(MTR): c.3711+15G> T
|
single nucleotide variant |
Benign |
rs3820571
|
GRCh38 |
Chromosome 1, 236897133: 236897133 |
21 |
MTR
|
NM_000254.2(MTR): c.3712-8T> C
|
single nucleotide variant |
Benign |
rs12022937
|
GRCh38 |
Chromosome 1, 236897550: 236897550 |
22 |
MTR
|
NM_000254.2(MTR): c.3712-8T> C
|
single nucleotide variant |
Benign |
rs12022937
|
GRCh37 |
Chromosome 1, 237060850: 237060850 |
23 |
MTR
|
NM_000254.2(MTR): c.340-6C> T
|
single nucleotide variant |
Benign/Likely benign |
rs7526063
|
GRCh37 |
Chromosome 1, 236971998: 236971998 |
24 |
MTR
|
NM_000254.2(MTR): c.340-6C> T
|
single nucleotide variant |
Benign/Likely benign |
rs7526063
|
GRCh38 |
Chromosome 1, 236808698: 236808698 |
25 |
MTR
|
NM_000254.2(MTR): c.2594+15T> C
|
single nucleotide variant |
Benign |
rs1770449
|
GRCh37 |
Chromosome 1, 237038161: 237038161 |
26 |
MTR
|
NM_000254.2(MTR): c.2594+15T> C
|
single nucleotide variant |
Benign |
rs1770449
|
GRCh38 |
Chromosome 1, 236874861: 236874861 |
27 |
MTR
|
NM_000254.2(MTR): c.2756A> G (p.Asp919Gly)
|
single nucleotide variant |
Benign |
rs1805087
|
GRCh37 |
Chromosome 1, 237048500: 237048500 |
28 |
MTR
|
NM_000254.2(MTR): c.2756A> G (p.Asp919Gly)
|
single nucleotide variant |
Benign |
rs1805087
|
GRCh38 |
Chromosome 1, 236885200: 236885200 |
29 |
MTR
|
NM_000254.2(MTR): c.3144A> G (p.Ala1048=)
|
single nucleotide variant |
Benign |
rs2229276
|
GRCh37 |
Chromosome 1, 237054569: 237054569 |
30 |
MTR
|
NM_000254.2(MTR): c.3144A> G (p.Ala1048=)
|
single nucleotide variant |
Benign |
rs2229276
|
GRCh38 |
Chromosome 1, 236891269: 236891269 |
31 |
MTRR
|
NM_002454.2(MTRR): c.1049A> G (p.Lys350Arg)
|
single nucleotide variant |
Benign |
rs162036
|
GRCh38 |
Chromosome 5, 7885846: 7885846 |
32 |
MTRR
|
NM_002454.2(MTRR): c.1049A> G (p.Lys350Arg)
|
single nucleotide variant |
Benign |
rs162036
|
GRCh37 |
Chromosome 5, 7885959: 7885959 |
33 |
MTRR
|
NM_002454.2(MTRR): c.1155G> A (p.Leu385=)
|
single nucleotide variant |
Benign/Likely benign |
rs2287779
|
GRCh38 |
Chromosome 5, 7889103: 7889103 |
34 |
MTRR
|
NM_002454.2(MTRR): c.1155G> A (p.Leu385=)
|
single nucleotide variant |
Benign/Likely benign |
rs2287779
|
GRCh37 |
Chromosome 5, 7889216: 7889216 |
35 |
MTRR
|
NM_002454.2(MTRR): c.1243C> T (p.Arg415Cys)
|
single nucleotide variant |
Benign/Likely benign |
rs2287780
|
GRCh38 |
Chromosome 5, 7889191: 7889191 |
36 |
MTRR
|
NM_002454.2(MTRR): c.1243C> T (p.Arg415Cys)
|
single nucleotide variant |
Benign/Likely benign |
rs2287780
|
GRCh37 |
Chromosome 5, 7889304: 7889304 |
37 |
MTRR
|
NM_002454.2(MTRR): c.1349C> G (p.Pro450Arg)
|
single nucleotide variant |
Benign/Likely benign |
rs16879334
|
GRCh38 |
Chromosome 5, 7891393: 7891393 |
38 |
MTRR
|
NM_002454.2(MTRR): c.1349C> G (p.Pro450Arg)
|
single nucleotide variant |
Benign/Likely benign |
rs16879334
|
GRCh37 |
Chromosome 5, 7891506: 7891506 |
39 |
MTRR
|
NM_002454.2(MTRR): c.1761T> C (p.Tyr587=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs6874544
|
GRCh38 |
Chromosome 5, 7896948: 7896948 |
40 |
MTRR
|
NM_002454.2(MTRR): c.1761T> C (p.Tyr587=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs6874544
|
GRCh37 |
Chromosome 5, 7897061: 7897061 |
41 |
MTRR
|
NM_002454.2(MTRR): c.1783C> T (p.His595Tyr)
|
single nucleotide variant |
Benign |
rs10380
|
GRCh38 |
Chromosome 5, 7897078: 7897078 |
42 |
MTRR
|
NM_002454.2(MTRR): c.1783C> T (p.His595Tyr)
|
single nucleotide variant |
Benign |
rs10380
|
GRCh37 |
Chromosome 5, 7897191: 7897191 |
43 |
MTRR
|
NM_002454.2(MTRR): c.1875G> A (p.Val625=)
|
single nucleotide variant |
Benign |
rs12347
|
GRCh38 |
Chromosome 5, 7897170: 7897170 |
44 |
MTRR
|
NM_002454.2(MTRR): c.1875G> A (p.Val625=)
|
single nucleotide variant |
Benign |
rs12347
|
GRCh37 |
Chromosome 5, 7897283: 7897283 |
45 |
MTRR
|
NM_002454.2(MTRR): c.1911G> A (p.Ala637=)
|
single nucleotide variant |
Benign |
rs1802059
|
GRCh38 |
Chromosome 5, 7897206: 7897206 |
46 |
MTRR
|
NM_002454.2(MTRR): c.1911G> A (p.Ala637=)
|
single nucleotide variant |
Benign |
rs1802059
|
GRCh37 |
Chromosome 5, 7897319: 7897319 |
47 |
MTRR
|
NM_002454.2(MTRR): c.-119T> C
|
single nucleotide variant |
Benign |
rs72716536
|
GRCh38 |
Chromosome 5, 7869122: 7869122 |
48 |
MTRR
|
NM_002454.2(MTRR): c.-119T> C
|
single nucleotide variant |
Benign |
rs72716536
|
GRCh37 |
Chromosome 5, 7869235: 7869235 |
49 |
MTRR
|
NM_002454.2(MTRR): c.524C> T (p.Ser175Leu)
|
single nucleotide variant |
Benign |
rs1532268
|
GRCh38 |
Chromosome 5, 7878066: 7878066 |
50 |
MTRR
|
NM_002454.2(MTRR): c.524C> T (p.Ser175Leu)
|
single nucleotide variant |
Benign |
rs1532268
|
GRCh37 |
Chromosome 5, 7878179: 7878179 |