1 |
CALM2
|
NM_001743.5(CALM2): c.293A> G (p.Asn98Ser)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124647
|
GRCh37 |
Chromosome 2, 47388990: 47388990 |
2 |
CALM2
|
NM_001743.5(CALM2): c.293A> G (p.Asn98Ser)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124647
|
GRCh38 |
Chromosome 2, 47161851: 47161851 |
3 |
CALM2
|
NM_001743.5(CALM2): c.293A> T (p.Asn98Ile)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124647
|
GRCh37 |
Chromosome 2, 47388990: 47388990 |
4 |
CALM2
|
NM_001743.5(CALM2): c.293A> T (p.Asn98Ile)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124647
|
GRCh38 |
Chromosome 2, 47161851: 47161851 |
5 |
CALM2
|
NM_001743.5(CALM2): c.396T> G (p.Asp132Glu)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124648
|
GRCh37 |
Chromosome 2, 47388887: 47388887 |
6 |
CALM2
|
NM_001743.5(CALM2): c.396T> G (p.Asp132Glu)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124648
|
GRCh38 |
Chromosome 2, 47161748: 47161748 |
7 |
CALM2
|
NM_001743.5(CALM2): c.400G> C (p.Asp134His)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124650
|
GRCh37 |
Chromosome 2, 47388883: 47388883 |
8 |
CALM2
|
NM_001743.5(CALM2): c.400G> C (p.Asp134His)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124650
|
GRCh38 |
Chromosome 2, 47161744: 47161744 |
9 |
CALM2
|
NM_001743.5(CALM2): c.407A> C (p.Gln136Pro)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124649
|
GRCh37 |
Chromosome 2, 47388876: 47388876 |
10 |
CALM2
|
NM_001743.5(CALM2): c.407A> C (p.Gln136Pro)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398124649
|
GRCh38 |
Chromosome 2, 47161737: 47161737 |
11 |
CALM2
|
NM_001305625.1(CALM2): c.179A> T (p.Asp60Val)
|
single nucleotide variant |
Pathogenic |
rs730882254
|
GRCh37 |
Chromosome 2, 47388996: 47388996 |
12 |
CALM2
|
NM_001305625.1(CALM2): c.179A> T (p.Asp60Val)
|
single nucleotide variant |
Pathogenic |
rs730882254
|
GRCh38 |
Chromosome 2, 47161857: 47161857 |
13 |
CALM2
|
NM_001743.5(CALM2): c.400G> A (p.Asp134Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs398124650
|
GRCh38 |
Chromosome 2, 47161744: 47161744 |
14 |
CALM2
|
NM_001743.5(CALM2): c.400G> A (p.Asp134Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs398124650
|
GRCh37 |
Chromosome 2, 47388883: 47388883 |
15 |
CALM2
|
NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 2, 47388869: 47388869 |
16 |
CALM2
|
NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 2, 47161730: 47161730 |