|
rs1208636573
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1554642022
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1555575860
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1560264452
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs200635937
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs622288
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs770374710
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886041116
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs137853223
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.
|
11502836 |
2001 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
rs121918117
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The GHRH-R gene E72X mutation was found in 71% of this series, in 90% of FIGHD, 36% of NFIGHD, and in 78% with phenotype IB.
|
16355809 |
2005 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
|
16969868 |
2006 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
|
16372351 |
2006 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
rs121909362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After detection of a heterozygous, non-synonymous mutation R179C in exon 6 in one single patient with acquired GH-deficiency (GHD) in late adulthood, analysis of her clinical data followed, leading to the diagnosis of mild short stature (-1.5SD).
|
17462934 |
2007 |
|
rs372703574
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After detection of a heterozygous, non-synonymous mutation R179C in exon 6 in one single patient with acquired GH-deficiency (GHD) in late adulthood, analysis of her clinical data followed, leading to the diagnosis of mild short stature (-1.5SD).
|
17462934 |
2007 |
|
rs6180
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Leu544Ile polymorphism of the GHR gene is associated with cholesterol levels in boys with GH deficiency.
|
17547682 |
2007 |
|
rs755905735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After detection of a heterozygous, non-synonymous mutation R179C in exon 6 in one single patient with acquired GH-deficiency (GHD) in late adulthood, analysis of her clinical data followed, leading to the diagnosis of mild short stature (-1.5SD).
|
17462934 |
2007 |
|
rs763850922
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present report we describe a novel 456G>A heterozygous mutation of splicing of the last base of the 3'-acceptor splice site of exon 4 within the GH1 in a 4.2-year old, extremely short (-5.32 height sDs) girl with congenital IGHD. the mutation involves a highly conserved GGGgtg sequence of the exon 4/IVs4 boundary region of the GH1 gene. the predicted effect of the 456 G>A mutation is perturbed splicing with possible skipping of exon 4 of the GH1 gene. the novel heterozygous 456 G>A mutation in exon 4 expands the spectrum of dominant negative splicing defects within the GH1 gene, responsible for congenital IGHD.
|
17178704 |
2007 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
|
19206176 |
2009 |
|
rs1555970404
|
|
TA |
0.700 |
GeneticVariation |
CLINVAR |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
|
19377476 |
2009 |