Gene: RMRP ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554651489
rs1554651489
RMRP ; CCDC107
AGCTTCACAGAGTAG 0.700 GeneticVariation CLINVAR Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. 28094436

2017
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137

2015
dbSNP: rs727502776
rs727502776
RMRP ; CCDC107
AGCTTCACAGAGTAGT 0.700 GeneticVariation CLINVAR [Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases]. 25616543

2015
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature. 24217815

2014
dbSNP: rs1554651404
rs1554651404
RMRP ; CCDC107
ACGTCCTCAGCTTCACAGAG 0.700 GeneticVariation CLINVAR Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 21570718

2011
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
CGTCCTCAGCTTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 21570718

2011
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 21570718

2011
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 21396580

2011
dbSNP: rs1563907686
rs1563907686
RMRP ; CCDC107
AACCACGTCCTCAGCTTCACAGAGTAGTATTTTATAG 0.700 GeneticVariation CLINVAR Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 21570718

2011
dbSNP: rs1554651543
rs1554651543
RMRP ; CCDC107
AGAGTAGT 0.700 GeneticVariation CLINVAR An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency. 21063072

2010
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008
dbSNP: rs1554651404
rs1554651404
RMRP ; CCDC107
ACGTCCTCAGCTTCACAGAG 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
CGTCCTCAGCTTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
dbSNP: rs1563907686
rs1563907686
RMRP ; CCDC107
AACCACGTCCTCAGCTTCACAGAGTAGTATTTTATAG 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
dbSNP: rs199476103
rs199476103
RMRP ; CCDC107
C 0.700 CausalMutation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
T 0.700 GeneticVariation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
A 0.700 CausalMutation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007
dbSNP: rs936059863
rs936059863
RMRP ; CCDC107
C 0.700 CausalMutation CLINVAR Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. 17937437

2007
dbSNP: rs948931144
rs948931144
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007
dbSNP: rs1554651404
rs1554651404
RMRP ; CCDC107
ACGTCCTCAGCTTCACAGAG 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
CGTCCTCAGCTTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
dbSNP: rs1554651489
rs1554651489
RMRP ; CCDC107
AGCTTCACAGAGTAG 0.700 GeneticVariation CLINVAR A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. 17015150

2006
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
dbSNP: rs1563907686
rs1563907686
RMRP ; CCDC107
AACCACGTCCTCAGCTTCACAGAGTAGTATTTTATAG 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006