1 |
BSCL2; HNRNPUL2-BSCL2
|
NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)
|
single nucleotide variant |
Pathogenic |
rs137852972
|
GRCh37 |
Chromosome 11, 62469971: 62469971 |
2 |
BSCL2; HNRNPUL2-BSCL2
|
NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)
|
single nucleotide variant |
Pathogenic |
rs137852972
|
GRCh38 |
Chromosome 11, 62702499: 62702499 |
3 |
GARS
|
NM_002047.3(GARS): c.548T> C (p.Leu183Pro)
|
single nucleotide variant |
Pathogenic |
rs137852644
|
GRCh37 |
Chromosome 7, 30640795: 30640795 |
4 |
GARS
|
NM_002047.3(GARS): c.548T> C (p.Leu183Pro)
|
single nucleotide variant |
Pathogenic |
rs137852644
|
GRCh38 |
Chromosome 7, 30601179: 30601179 |
5 |
GARS
|
NM_002047.3(GARS): c.374A> G (p.Glu125Gly)
|
single nucleotide variant |
Pathogenic |
rs137852645
|
GRCh37 |
Chromosome 7, 30639612: 30639612 |
6 |
GARS
|
NM_002047.3(GARS): c.374A> G (p.Glu125Gly)
|
single nucleotide variant |
Pathogenic |
rs137852645
|
GRCh38 |
Chromosome 7, 30599996: 30599996 |
7 |
GARS
|
NM_002047.3(GARS): c.1738G> C (p.Gly580Arg)
|
single nucleotide variant |
Pathogenic |
rs137852646
|
GRCh37 |
Chromosome 7, 30668214: 30668214 |
8 |
GARS
|
NM_002047.3(GARS): c.1738G> C (p.Gly580Arg)
|
single nucleotide variant |
Pathogenic |
rs137852646
|
GRCh38 |
Chromosome 7, 30628598: 30628598 |
9 |
GARS
|
NM_002047.3(GARS): c.1660G> A (p.Asp554Asn)
|
single nucleotide variant |
Pathogenic |
rs137852647
|
GRCh37 |
Chromosome 7, 30665896: 30665896 |
10 |
GARS
|
NM_002047.3(GARS): c.1660G> A (p.Asp554Asn)
|
single nucleotide variant |
Pathogenic |
rs137852647
|
GRCh38 |
Chromosome 7, 30626280: 30626280 |
11 |
GARS
|
NM_002047.3(GARS): c.222+5C> T
|
single nucleotide variant |
Benign |
rs2072236
|
GRCh37 |
Chromosome 7, 30634764: 30634764 |
12 |
GARS
|
NM_002047.3(GARS): c.222+5C> T
|
single nucleotide variant |
Benign |
rs2072236
|
GRCh38 |
Chromosome 7, 30595148: 30595148 |
13 |
GARS
|
NM_002047.3(GARS): c.93G> C (p.Leu31=)
|
single nucleotide variant |
Benign |
rs2529438
|
GRCh37 |
Chromosome 7, 30634630: 30634630 |
14 |
GARS
|
NM_002047.3(GARS): c.93G> C (p.Leu31=)
|
single nucleotide variant |
Benign |
rs2529438
|
GRCh38 |
Chromosome 7, 30595014: 30595014 |
15 |
GARS
|
NM_002047.3(GARS): c.998A> T (p.Glu333Val)
|
single nucleotide variant |
Likely pathogenic |
rs863224873
|
GRCh38 |
Chromosome 7, 30612212: 30612212 |
16 |
GARS
|
NM_002047.3(GARS): c.998A> T (p.Glu333Val)
|
single nucleotide variant |
Likely pathogenic |
rs863224873
|
GRCh37 |
Chromosome 7, 30651828: 30651828 |
17 |
GARS
|
NM_002047.3(GARS): c.2042C> T (p.Pro681Leu)
|
single nucleotide variant |
Uncertain significance |
rs879254346
|
GRCh37 |
Chromosome 7, 30672001: 30672001 |
18 |
GARS
|
NM_002047.3(GARS): c.2042C> T (p.Pro681Leu)
|
single nucleotide variant |
Uncertain significance |
rs879254346
|
GRCh38 |
Chromosome 7, 30632385: 30632385 |
19 |
GARS
|
NM_002047.3(GARS): c.124C> G (p.Pro42Ala)
|
single nucleotide variant |
Benign |
rs1049402
|
GRCh37 |
Chromosome 7, 30634661: 30634661 |
20 |
GARS
|
NM_002047.3(GARS): c.124C> G (p.Pro42Ala)
|
single nucleotide variant |
Benign |
rs1049402
|
GRCh38 |
Chromosome 7, 30595045: 30595045 |
21 |
GARS
|
NM_002047.3(GARS): c.2095-6C> T
|
single nucleotide variant |
Benign |
rs2240401
|
GRCh38 |
Chromosome 7, 30633729: 30633729 |
22 |
GARS
|
NM_002047.3(GARS): c.2095-6C> T
|
single nucleotide variant |
Benign |
rs2240401
|
GRCh37 |
Chromosome 7, 30673345: 30673345 |
23 |
GARS
|
NM_002047.3(GARS): c.1415A> G (p.His472Arg)
|
single nucleotide variant |
Pathogenic |
rs1060502838
|
GRCh38 |
Chromosome 7, 30621448: 30621448 |
24 |
GARS
|
NM_002047.3(GARS): c.1415A> G (p.His472Arg)
|
single nucleotide variant |
Pathogenic |
rs1060502838
|
GRCh37 |
Chromosome 7, 30661064: 30661064 |
25 |
GARS
|
NM_002047.3(GARS): c.-45C> G
|
single nucleotide variant |
not provided |
rs903029869
|
GRCh37 |
Chromosome 7, 30634493: 30634493 |
26 |
GARS
|
NM_002047.3(GARS): c.-45C> G
|
single nucleotide variant |
not provided |
rs903029869
|
GRCh38 |
Chromosome 7, 30594877: 30594877 |