rs1057518765
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
G
0.700
GeneticVariation
CLINVAR
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
29115496
2018
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
22258527
2012
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
The mutational spectrum in Waardenburg syndrome.
8589691
1995
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.
27073475
2016
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
29094203
2017
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
29531335
2018
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
Clinical and genetic investigation of families with type II Waardenburg syndrome.
26781036
2016
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.
20485200
2010
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
20478267
2010
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
24194866
2013
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
23787126
2013
rs1553704814
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
C
0.700
CausalMutation
CLINVAR
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
27889061
2016
rs104893746
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
0.010
GeneticVariation
BEFREE
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259* ) in the <i>MITF</i> gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia).
31213145
2019
rs763119975
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
0.010
GeneticVariation
BEFREE
In contrast, their two children both carried a homozygous p.R223H mutation and had classic WS features including profound hearing loss, heterochromia irides and marked pigmentary abnormalities in hair and skin.
30549420
2019
rs876657699
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome
0.010
GeneticVariation
BEFREE
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259* ) in the <i>MITF</i> gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia).
31213145
2019