Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. 20816580

2010
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation BEFREE Our findings indicate that malignant SDHD-related PGL is associated with several mutations besides D92Y. 17973943

2008
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation BEFREE SDHD mutations (D92Y) are associated with malignant paragangliomas and catecholamine excess with remarkable interindividual variations despite the same mutation. 17227803

2007
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326

2004
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. 11343322

2001
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation BEFREE Here, we demonstrate that two founder mutations, Asp92Tyr and Leu139Pro, are responsible for paragangliomas in 24 and 6 of the 32 independently ascertained Dutch paraganglioma families, respectively. 11391798

2001
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT Here, we demonstrate that two founder mutations, Asp92Tyr and Leu139Pro, are responsible for paragangliomas in 24 and 6 of the 32 independently ascertained Dutch paraganglioma families, respectively. 11391798

2001
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796

2001
dbSNP: rs80338845
rs80338845
SDHD
0.730 GeneticVariation UNIPROT Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297

2000
dbSNP: rs80338844
rs80338844
SDHD
0.720 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs80338844
rs80338844
SDHD
0.720 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs80338844
rs80338844
SDHD
0.720 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs80338844
rs80338844
SDHD
0.720 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs80338844
rs80338844
SDHD
0.720 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs80338844
rs80338844
SDHD
0.720 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs80338844
rs80338844
SDHD
0.720 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs80338844
rs80338844
SDHD
0.720 GeneticVariation UNIPROT Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. 20816580

2010
dbSNP: rs80338844
rs80338844
SDHD
0.720 GeneticVariation BEFREE A P81L mutation associated with abdominal and head and neck PGL was detected in three families. 17102085

2006