1 |
MYO1A
|
NM_005379.3(MYO1A): c.277C> T (p.Arg93Ter)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs121909305
|
GRCh37 |
Chromosome 12, 57441459: 57441459 |
2 |
MYO1A
|
NM_005379.3(MYO1A): c.277C> T (p.Arg93Ter)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs121909305
|
GRCh38 |
Chromosome 12, 57047675: 57047675 |
3 |
MYO1A
|
NM_005379.3(MYO1A): c.347_349dupCTT (p.Ser116_Tyr117insSer)
|
duplication |
Uncertain significance |
rs864309476
|
GRCh38 |
Chromosome 12, 57047384: 57047386 |
4 |
MYO1A
|
NM_005379.3(MYO1A): c.347_349dupCTT (p.Ser116_Tyr117insSer)
|
duplication |
Uncertain significance |
rs864309476
|
GRCh37 |
Chromosome 12, 57441168: 57441170 |
5 |
MYO1A
|
NM_005379.3(MYO1A): c.916G> A (p.Val306Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs55679042
|
GRCh37 |
Chromosome 12, 57437119: 57437119 |
6 |
MYO1A
|
NM_005379.3(MYO1A): c.916G> A (p.Val306Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs55679042
|
GRCh38 |
Chromosome 12, 57043335: 57043335 |
7 |
MYO1A
|
NM_005379.3(MYO1A): c.1155G> T (p.Glu385Asp)
|
single nucleotide variant |
Uncertain significance |
rs61753849
|
GRCh37 |
Chromosome 12, 57435225: 57435225 |
8 |
MYO1A
|
NM_005379.3(MYO1A): c.1155G> T (p.Glu385Asp)
|
single nucleotide variant |
Uncertain significance |
rs61753849
|
GRCh38 |
Chromosome 12, 57041441: 57041441 |
9 |
MYO1A
|
NM_005379.3(MYO1A): c.1985G> A (p.Gly662Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs33962952
|
GRCh37 |
Chromosome 12, 57431402: 57431402 |
10 |
MYO1A
|
NM_005379.3(MYO1A): c.1985G> A (p.Gly662Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs33962952
|
GRCh38 |
Chromosome 12, 57037618: 57037618 |
11 |
MYO1A
|
NM_005379.3(MYO1A): c.2728T> C (p.Ser910Pro)
|
single nucleotide variant |
Uncertain significance |
rs121909306
|
GRCh37 |
Chromosome 12, 57423368: 57423368 |
12 |
MYO1A
|
NM_005379.3(MYO1A): c.2728T> C (p.Ser910Pro)
|
single nucleotide variant |
Uncertain significance |
rs121909306
|
GRCh38 |
Chromosome 12, 57029584: 57029584 |
13 |
MYO1A
|
NM_005379.3(MYO1A): c.1882C> G (p.Arg628Gly)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs151187460
|
GRCh37 |
Chromosome 12, 57431732: 57431732 |
14 |
MYO1A
|
NM_005379.3(MYO1A): c.1882C> G (p.Arg628Gly)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs151187460
|
GRCh38 |
Chromosome 12, 57037948: 57037948 |
15 |
MYO1A
|
NM_005379.3(MYO1A): c.1011+2T> G
|
single nucleotide variant |
Likely benign |
rs875989945
|
GRCh38 |
Chromosome 12, 57043238: 57043238 |
16 |
MYO1A
|
NM_005379.3(MYO1A): c.2021G> A (p.Gly674Asp)
|
single nucleotide variant |
Likely benign |
rs148808080
|
GRCh37 |
Chromosome 12, 57431366: 57431366 |
17 |
MYO1A
|
NM_005379.3(MYO1A): c.2021G> A (p.Gly674Asp)
|
single nucleotide variant |
Likely benign |
rs148808080
|
GRCh38 |
Chromosome 12, 57037582: 57037582 |
18 |
MYO1A
|
NM_005379.3(MYO1A): c.1011+2T> G
|
single nucleotide variant |
Likely benign |
rs875989945
|
GRCh37 |
Chromosome 12, 57437022: 57437022 |
19 |
MYO1A
|
NM_005379.3(MYO1A): c.640+1G> C
|
single nucleotide variant |
Likely benign |
rs199924915
|
GRCh37 |
Chromosome 12, 57440335: 57440335 |
20 |
MYO1A
|
NM_005379.3(MYO1A): c.640+1G> C
|
single nucleotide variant |
Likely benign |
rs199924915
|
GRCh38 |
Chromosome 12, 57046551: 57046551 |
21 |
MYO1A
|
NM_005379.3(MYO1A): c.235G> T (p.Ala79Ser)
|
single nucleotide variant |
Likely benign |
rs147101055
|
GRCh37 |
Chromosome 12, 57441501: 57441501 |
22 |
MYO1A
|
NM_005379.3(MYO1A): c.235G> T (p.Ala79Ser)
|
single nucleotide variant |
Likely benign |
rs147101055
|
GRCh38 |
Chromosome 12, 57047717: 57047717 |