rs121909117
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
rs121909117
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
|
0.800 |
GeneticVariation |
UNIPROT |
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
|
18348274 |
2008 |
rs121909117
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
|
0.800 |
GeneticVariation |
UNIPROT |
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
|
9462749 |
1998 |
rs121909117
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1555937398
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIA
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
|
29407415 |
2018 |
rs1555938422
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIA
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
|
29407415 |
2018 |
rs1555939415
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIA
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
|
29407415 |
2018 |
rs1555939564
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIA
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
|
29407415 |
2018 |
rs267607081
|
POLR2F;SOX10
|
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
rs74315515
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
rs750566714
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
rs267607081
|
POLR2F;SOX10
|
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
|
0.700 |
GeneticVariation |
UNIPROT |
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
|
19208381 |
2009 |
rs74315515
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
|
17999358 |
2007 |
rs750566714
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
|
17999358 |
2007 |
rs267607081
|
POLR2F;SOX10
|
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
|
15004559 |
2004 |
rs267607081
|
POLR2F;SOX10
|
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
|
0.700 |
GeneticVariation |
UNIPROT |
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
|
10762540 |
2000 |
rs74315515
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.
|
10441344 |
1999 |
rs750566714
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
|
0.700 |
GeneticVariation |
UNIPROT |
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.
|
10441344 |
1999 |
rs1057518656
|
POLR2F;SOX10
|
WAARDENBURG SYNDROME, TYPE IIE
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1064796049
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1373797370
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555937390
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555937395
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555937400
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555937463
|
POLR2F;SOX10
|
Waardenburg Syndrome, Type 4c
|
CT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|