1 |
NFIX
|
NM_002501.3(NFIX): c.568C> T (p.Gln190Ter)
|
single nucleotide variant |
Pathogenic |
rs387907253
|
GRCh37 |
Chromosome 19, 13183869: 13183869 |
2 |
NFIX
|
NM_002501.3(NFIX): c.568C> T (p.Gln190Ter)
|
single nucleotide variant |
Pathogenic |
rs387907253
|
GRCh38 |
Chromosome 19, 13073055: 13073055 |
3 |
NFIX
|
NM_002501.3(NFIX): c.179T> C (p.Leu60Pro)
|
single nucleotide variant |
Pathogenic |
rs387907254
|
GRCh37 |
Chromosome 19, 13135986: 13135986 |
4 |
NFIX
|
NM_002501.3(NFIX): c.179T> C (p.Leu60Pro)
|
single nucleotide variant |
Pathogenic |
rs387907254
|
GRCh38 |
Chromosome 19, 13025172: 13025172 |
5 |
NFIX
|
NM_002501.3(NFIX): c.362G> C (p.Arg121Pro)
|
single nucleotide variant |
Pathogenic |
rs387907255
|
GRCh37 |
Chromosome 19, 13136169: 13136169 |
6 |
NFIX
|
NM_002501.3(NFIX): c.362G> C (p.Arg121Pro)
|
single nucleotide variant |
Pathogenic |
rs387907255
|
GRCh38 |
Chromosome 19, 13025355: 13025355 |
7 |
NFIX
|
NM_002501.3(NFIX): c.716C> G (p.Ser239Ter)
|
single nucleotide variant |
Pathogenic |
rs587779381
|
GRCh37 |
Chromosome 19, 13184738: 13184738 |
8 |
NFIX
|
NM_002501.3(NFIX): c.716C> G (p.Ser239Ter)
|
single nucleotide variant |
Pathogenic |
rs587779381
|
GRCh38 |
Chromosome 19, 13073924: 13073924 |
9 |
NFIX
|
NM_001271043.2(NFIX): c.1164G> A (p.Ser388=)
|
single nucleotide variant |
Benign |
rs201174259
|
GRCh37 |
Chromosome 19, 13192555: 13192555 |
10 |
NFIX
|
NM_001271043.2(NFIX): c.1164G> A (p.Ser388=)
|
single nucleotide variant |
Benign |
rs201174259
|
GRCh38 |
Chromosome 19, 13081741: 13081741 |
11 |
NFIX
|
NM_002501.3(NFIX): c.338_342dupAGATC (p.Arg116Serfs)
|
duplication |
Pathogenic |
rs797045056
|
GRCh37 |
Chromosome 19, 13136145: 13136149 |
12 |
NFIX
|
NM_002501.3(NFIX): c.338_342dupAGATC (p.Arg116Serfs)
|
duplication |
Pathogenic |
rs797045056
|
GRCh38 |
Chromosome 19, 13025331: 13025335 |
13 |
NFIX
|
NM_001271043.2(NFIX): c.207G> A (p.Leu69=)
|
single nucleotide variant |
Likely benign |
rs369196245
|
GRCh37 |
Chromosome 19, 13135990: 13135990 |
14 |
NFIX
|
NM_001271043.2(NFIX): c.207G> A (p.Leu69=)
|
single nucleotide variant |
Likely benign |
rs369196245
|
GRCh38 |
Chromosome 19, 13025176: 13025176 |
15 |
NFIX
|
NM_002501.3(NFIX): c.73delG (p.Ala25Leufs)
|
deletion |
Pathogenic |
rs1135401802
|
GRCh37 |
Chromosome 19, 13135880: 13135880 |
16 |
NFIX
|
NM_002501.3(NFIX): c.73delG (p.Ala25Leufs)
|
deletion |
Pathogenic |
rs1135401802
|
GRCh38 |
Chromosome 19, 13025066: 13025066 |
17 |
NFIX
|
NC_000019.9: g.(?_13106632)_(13428155_?)del
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 19, 13106632: 13428155 |
18 |
NFIX
|
NM_002501.3(NFIX): c.467G> C (p.Cys156Ser)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 19, 13136274: 13136274 |
19 |
NFIX
|
NM_002501.3(NFIX): c.467G> C (p.Cys156Ser)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 19, 13025460: 13025460 |
20 |
NFIX
|
NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 19, 13025351: 13025351 |
21 |
NFIX
|
NM_001271043.2(NFIX): c.382del (p.Leu128Cysfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 19, 13136165: 13136165 |
22 |
NFIX
|
NM_001271043.2(NFIX): c.361A> G (p.Lys121Glu)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 19, 13136144: 13136144 |
23 |
NFIX
|
NM_001271043.2(NFIX): c.361A> G (p.Lys121Glu)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 19, 13025330: 13025330 |
24 |
NFIX
|
NM_001271043.2(NFIX): c.811C> T (p.Arg271Trp)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 19, 13184809: 13184809 |
25 |
NFIX
|
NM_001271043.2(NFIX): c.811C> T (p.Arg271Trp)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 19, 13073995: 13073995 |
26 |
NFIX
|
NC_000019.10: g.(?_13075535)_(13078735_?)del
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 19, 13075535: 13078735 |
27 |
NFIX
|
NC_000019.10: g.(?_13075535)_(13078735_?)del
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 19, 13186349: 13189549 |
28 |
NFIX
|
NM_001271043.2(NFIX): c.1012G> A (p.Asp338Asn)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 19, 13078645: 13078645 |
29 |
NFIX
|
NM_001271043.2(NFIX): c.1012G> A (p.Asp338Asn)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 19, 13189459: 13189459 |
30 |
NFIX
|
NM_001271043.2(NFIX): c.979+2T> C
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 19, 13186487: 13186487 |
31 |
NFIX
|
NM_001271043.2(NFIX): c.979+2T> C
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 19, 13075673: 13075673 |