1 |
MFRP
|
NM_031433.3(MFRP): c.1150dupC (p.His384Profs)
|
duplication |
Pathogenic |
rs587776595
|
GRCh37 |
Chromosome 11, 119213688: 119213688 |
2 |
MFRP
|
NM_031433.3(MFRP): c.1150dupC (p.His384Profs)
|
duplication |
Pathogenic |
rs587776595
|
GRCh38 |
Chromosome 11, 119342978: 119342978 |
3 |
MFRP
|
NM_031433.3(MFRP): c.523C> T (p.Gln175Ter)
|
single nucleotide variant |
Pathogenic |
rs121908189
|
GRCh37 |
Chromosome 11, 119216248: 119216248 |
4 |
MFRP
|
NM_031433.3(MFRP): c.523C> T (p.Gln175Ter)
|
single nucleotide variant |
Pathogenic |
rs121908189
|
GRCh38 |
Chromosome 11, 119345538: 119345538 |
5 |
MFRP
|
NM_031433.3(MFRP): c.498delC (p.Asn167Thrfs)
|
deletion |
Pathogenic |
rs587776596
|
GRCh37 |
Chromosome 11, 119216273: 119216273 |
6 |
MFRP
|
NM_031433.3(MFRP): c.498delC (p.Asn167Thrfs)
|
deletion |
Pathogenic |
rs587776596
|
GRCh38 |
Chromosome 11, 119345563: 119345563 |
7 |
MFRP
|
NM_031433.3(MFRP): c.498dupC (p.Asn167Glnfs)
|
duplication |
Pathogenic |
rs606231145
|
GRCh38 |
Chromosome 11, 119345563: 119345563 |
8 |
MFRP
|
NM_031433.3(MFRP): c.498dupC (p.Asn167Glnfs)
|
duplication |
Pathogenic |
rs606231145
|
GRCh37 |
Chromosome 11, 119216273: 119216273 |
9 |
C1QTNF5; MFRP
|
NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg)
|
single nucleotide variant |
Uncertain significance |
rs145319149
|
GRCh37 |
Chromosome 11, 119214636: 119214636 |
10 |
C1QTNF5; MFRP
|
NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg)
|
single nucleotide variant |
Uncertain significance |
rs145319149
|
GRCh38 |
Chromosome 11, 119343926: 119343926 |
11 |
MFRP
|
NM_031433.3(MFRP): c.951C> A (p.Tyr317Ter)
|
single nucleotide variant |
Pathogenic |
rs730882141
|
GRCh37 |
Chromosome 11, 119215049: 119215049 |
12 |
MFRP
|
NM_031433.3(MFRP): c.951C> A (p.Tyr317Ter)
|
single nucleotide variant |
Pathogenic |
rs730882141
|
GRCh38 |
Chromosome 11, 119344339: 119344339 |
13 |
MFRP
|
NM_031433.3(MFRP): c.1622_1625delTCTG (p.Val541Alafs)
|
deletion |
Pathogenic |
rs730882142
|
GRCh37 |
Chromosome 11, 119212373: 119212376 |
14 |
MFRP
|
NM_031433.3(MFRP): c.1622_1625delTCTG (p.Val541Alafs)
|
deletion |
Pathogenic |
rs730882142
|
GRCh38 |
Chromosome 11, 119341663: 119341666 |
15 |
MFRP
|
NM_031433.3(MFRP): c.201G> A (p.Trp67Ter)
|
single nucleotide variant |
Pathogenic |
rs150232843
|
GRCh37 |
Chromosome 11, 119216826: 119216826 |
16 |
MFRP
|
NM_031433.3(MFRP): c.201G> A (p.Trp67Ter)
|
single nucleotide variant |
Pathogenic |
rs150232843
|
GRCh38 |
Chromosome 11, 119346116: 119346116 |
17 |
MFRP
|
NM_031433.3(MFRP): c.491_492insT (p.Asn167Glnfs)
|
insertion |
Pathogenic |
rs730882143
|
GRCh37 |
Chromosome 11, 119216279: 119216280 |
18 |
MFRP
|
NM_031433.3(MFRP): c.491_492insT (p.Asn167Glnfs)
|
insertion |
Pathogenic |
rs730882143
|
GRCh38 |
Chromosome 11, 119345569: 119345570 |
19 |
MFRP
|
NM_031433.3(MFRP): c.1549C> T (p.Arg517Trp)
|
single nucleotide variant |
Pathogenic |
rs730882144
|
GRCh37 |
Chromosome 11, 119212449: 119212449 |
20 |
MFRP
|
NM_031433.3(MFRP): c.1549C> T (p.Arg517Trp)
|
single nucleotide variant |
Pathogenic |
rs730882144
|
GRCh38 |
Chromosome 11, 119341739: 119341739 |
21 |
C1QTNF5; MFRP
|
NM_015645.4(C1QTNF5): c.-1867G> A
|
single nucleotide variant |
Benign/Likely benign |
rs61736238
|
GRCh37 |
Chromosome 11, 119215586: 119215586 |
22 |
C1QTNF5; MFRP
|
NM_015645.4(C1QTNF5): c.-1867G> A
|
single nucleotide variant |
Benign/Likely benign |
rs61736238
|
GRCh38 |
Chromosome 11, 119344876: 119344876 |
23 |
MFRP
|
NM_031433.3(MFRP): c.958C> T (p.Gln320Ter)
|
single nucleotide variant |
Pathogenic |
rs797045054
|
GRCh37 |
Chromosome 11, 119215042: 119215042 |
24 |
MFRP
|
NM_031433.3(MFRP): c.958C> T (p.Gln320Ter)
|
single nucleotide variant |
Pathogenic |
rs797045054
|
GRCh38 |
Chromosome 11, 119344332: 119344332 |
25 |
C1QTNF5; MFRP
|
NG_012235.1: g.5548G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs149376662
|
GRCh37 |
Chromosome 11, 119216836: 119216836 |
26 |
C1QTNF5; MFRP
|
NG_012235.1: g.5548G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs149376662
|
GRCh38 |
Chromosome 11, 119346126: 119346126 |
27 |
MFRP
|
NM_031433.3(MFRP): c.397G> T (p.Glu133Ter)
|
single nucleotide variant |
Pathogenic |
rs770341402
|
GRCh38 |
Chromosome 11, 119345803: 119345803 |
28 |
MFRP
|
NM_031433.3(MFRP): c.397G> T (p.Glu133Ter)
|
single nucleotide variant |
Pathogenic |
rs770341402
|
GRCh37 |
Chromosome 11, 119216513: 119216513 |
29 |
MFRP
|
NM_031433.3(MFRP): c.899-2A> G
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 11, 119215103: 119215103 |
30 |
MFRP
|
NM_031433.3(MFRP): c.899-2A> G
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 11, 119344393: 119344393 |
31 |
MFRP
|
NM_031433.3(MFRP): c.104dup (p.Pro36Serfs)
|
duplication |
Likely pathogenic |
|
GRCh38 |
Chromosome 11, 119346325: 119346325 |
32 |
MFRP
|
NM_031433.3(MFRP): c.104dup (p.Pro36Serfs)
|
duplication |
Likely pathogenic |
|
GRCh37 |
Chromosome 11, 119217035: 119217035 |
33 |
MFRP
|
NM_031433.3(MFRP): c.1148C> G (p.Pro383Arg)
|
single nucleotide variant |
Uncertain significance |
rs758398734
|
GRCh37 |
Chromosome 11, 119213690: 119213690 |
34 |
MFRP
|
NM_031433.3(MFRP): c.1148C> G (p.Pro383Arg)
|
single nucleotide variant |
Uncertain significance |
rs758398734
|
GRCh38 |
Chromosome 11, 119342980: 119342980 |
35 |
MFRP
|
NM_031433.3(MFRP): c.629delG (p.Gly210Alafs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 11, 119216142: 119216142 |
36 |
MFRP
|
NM_031433.3(MFRP): c.629delG (p.Gly210Alafs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 11, 119345432: 119345432 |