|
rs189261858
|
|
|
0.710 |
GeneticVariation |
BEFREE |
These observations suggest that the R450H mutation is a commonly observed TSH receptor mutation in patients with TSH resistance</span> in Japan.
|
16756469 |
2006 |
|
rs748793969
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of the RTSH phenotype, exome analysis identified five rare DUOX2 gene variants (p.A649E, p.P1391A, p.R885L, p.G488R, and p.SF965-6SfsX29) found to be pathogenic.
|
27821020 |
2017 |
|
rs121908863
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
|
21707688 |
2011 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.
|
15693879 |
2005 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.
|
19506388 |
2009 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
|
21677043 |
2011 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
|
11442002 |
2001 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
|
21714469 |
2010 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
|
27637299 |
2016 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
|
22405933 |
2012 |
|
rs189261858
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
|
22876533 |
2012 |
|
rs121908862
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908865
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908866
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
|
14725684 |
2004 |
|
rs121908866
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population.
|
12629076 |
2003 |
|
rs121908866
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Four families with loss of function mutations of the thyrotropin receptor.
|
8954020 |
1996 |
|
rs121908866
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.
|
9100579 |
1997 |
|
rs121908867
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908868
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908869
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908870
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908871
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908872
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
|
9185526 |
1997 |
|
rs121908872
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
|
14725684 |
2004 |