MCID: HRD031
MIFTS: 47

Hereditary Paraganglioma-Pheochromocytoma Syndromes

Categories: Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

MalaCards integrated aliases for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

Name: Hereditary Paraganglioma-Pheochromocytoma Syndromes 24 25 29 6
Hereditary Pheochromocytoma-Paraganglioma 53 25 59
Hereditary Paraganglioma-Pheochromocytoma 53 25
Familial Pheochromocytoma-Paraganglioma 53 59
Paragangliomas 4 25 73
Paragangliomas 2 25 73
Paragangliomas 3 25 73
Familial Paraganglioma-Pheochromocytoma Syndromes 25
Hereditary Paragangliomas and Pheochromocytomas 6
Sdhx-Related Paraganglioma-Pheochromocytoma 53
Familial Nonchromaffin Paragangliomas 24
Familial Paraganglioma Syndrome 25
Familial Glomus Tumors 24
Paragangliomas 1 25
Paraganglioma 73
Fpgl/pheo 25
Fpgl 25

Characteristics:

Orphanet epidemiological data:

59
hereditary pheochromocytoma-paraganglioma
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: adult;

GeneReviews:

24
Penetrance Age-related penetrance. pathogenic variants in the genes encoding the subunits of sdh appear to have a high but age-related penetrance (table 3). data, however, are limited [neumann et al 2004, benn et al 2006, jafri et al 2013]...

Classifications:



Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 29072Disease definitionHereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).EpidemiologyHereditary PGL/PCCs represent 30% of all PGL/PCC, for which prevalence is around 1/500,000 for PCC and 1/1,000,000 for PGL.Clinical descriptionPGL can be either hypersecreting (catecholamines) or non-secreting and PCCs usually secrete catecholamines. Secreting (sympathetic) PGLs are predominantly found in the thoracic, abdominal and pelvic areas. Hypersecretion manifests as sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Urinary bladder PGL may be revealed by painless hematuria and blood pressure increase after micturition. Non-secreting (parasympathetic) PGLs are predominantly located in the head and neck and present as enlarging masses that may be asymptomatic or may be associated with unilateral hearing loss, pulsatile tinnitus, cough, hoarseness of voice, pharyngeal fullness, swallowing difficulty, pain and/or problems with tongue motion. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Gastric stromal tumors and renal cancers are rarely associated.EtiologyUp to 10% of genetically determined PCC/PGLs are due to a SDHx germline mutation. Hereditary PCC/PGLs are caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant but associated with maternal genomic imprinting for SDHD and SDHAF2 and expressed when the mutation is inherited from the father. Penetrance depends on the gene, age and tumor sites. Tumors in patients with SDHB mutations are more likely to become malignant than those in patients with other SDHx mutations.Diagnostic methodsDiagnosis is based on clinical examination and family history. Young age at onset, presence of bilateral, extra-adrenal or multiple tumors, or malignancy suggest an inherited disorder. Imaging studies (MRI, CT) are used to detect tumors and may include functional imaging (scintigraphy, PET). Biochemical testing includes plasma free metanephrines and/or 24 hour-urinary fractionated metanephrines. Molecular genetic testing confirms the diagnosis.Differential diagnosisDifferential diagnoses include non-hereditary PCC/PGL (although hereditary PCC/PGL tends to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms), PCC/PGL associated with other hereditary conditions (neurofibromatosis type 1, von Hippel-Lindau syndrome, multiple endocrine neoplasia type 2, Carney triad and Carney-Stratakis syndrome; see these terms) and familial PCC due to TMEM127 mutation.Antenatal diagnosisPrenatal testing is not recommended. Presymptomatic testing is proposed in at-risk children from 6 years of age.Management and treatmentTreatment for secreting tumors involves blood pressure control with alpha-blockers followed by surgery by specialized teams. If the tumors have not metastasized, surgical resection can be curative. Follow-up is required due to the risk of recurrence and malignancy in particular for SDHB mutation-carriers. For head and neck PGL, external radiotherapy can be proposed. When metastases have occurred, other treatment options including chemotherapy and targeted radiotherapy should be proposed.PrognosisThe disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hereditary Paraganglioma-Pheochromocytoma Syndromes, also known as hereditary pheochromocytoma-paraganglioma, is related to paragangliomas 1 and paraganglioma, and has symptoms including aphonia An important gene associated with Hereditary Paraganglioma-Pheochromocytoma Syndromes is MAX (MYC Associated Factor X), and among its related pathways/superpathways are Pathways in cancer and Glucose / Energy Metabolism. Affiliated tissues include testes, tongue and adrenal gland, and related phenotypes are extraadrenal pheochromocytoma and adrenal pheochromocytoma

Genetics Home Reference : 25 Hereditary paraganglioma-pheochromocytoma is an inherited condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas.

GeneReviews: NBK1548

Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 36, show less)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 31.9 SDHB SDHC SDHD TIMM8B
2 paraganglioma 27.0 MAX RET SDHA SDHAF2 SDHB SDHC
3 pheochromocytoma 26.8 FH KIF1B MAX RET SDHA SDHAF2
4 acromegaly 11.3
5 paragangliomas 4 11.3
6 paragangliomas 2 11.3
7 paragangliomas 3 11.3
8 cowden syndrome 3 10.5 SDHD TIMM8B
9 glomus tumor 10.3 SDHB SDHD
10 chondroma 10.3 SDHB SDHC SDHD
11 lymphatic system disease 10.2 SDHB SDHC SDHD
12 multiple endocrine neoplasia, type iia 10.1 RET SDHB SDHD
13 hereditary leiomyomatosis and renal cell cancer 10.1 FH SDHB
14 extra-adrenal pheochromocytoma 10.1 SDHAF2 SDHB SDHC SDHD
15 multiple endocrine neoplasia, type i 10.0 RET SDHB SDHD
16 renal oncocytoma 10.0 MAX SDHB
17 bone disease 10.0
18 paraganglioma and gastric stromal sarcoma 9.9 SDHB SDHC SDHD TIMM8B
19 fumarate hydratase deficiency 9.9 FH VHL
20 cowden disease 9.8 RET SDHB SDHC SDHD
21 endocrine gland cancer 9.8 RET SDHB SDHC SDHD
22 seminal vesicle tumor 9.8 SDHA SDHB
23 aging 9.8
24 familial renal papillary carcinoma 9.6 FH RET
25 adrenal medulla cancer 9.6 RET SDHAF2 SDHB SDHC SDHD
26 multiple endocrine neoplasia 9.6 RET SDHB SDHC VHL
27 carney triad 9.3 SDHA SDHB SDHC SDHD
28 neurofibromatosis, type iv, of riccardi 9.3 RET SDHB SDHC SDHD VHL
29 von hippel-lindau syndrome 9.3 RET SDHB SDHC SDHD VHL
30 gastrointestinal stromal tumor 9.3 SDHA SDHB SDHC SDHD
31 neural crest tumor 9.1 SDHA SDHAF2 SDHB SDHC SDHD
32 mitochondrial complex ii deficiency 9.1 SDHA SDHAF2 SDHB SDHC SDHD
33 sporadic pheochromocytoma 9.1 MAX RET SDHB SDHC SDHD VHL
34 persistent generalized lymphadenopathy 8.9 SDHA SDHAF2 SDHB SDHC SDHD TMEM127
35 lymph node disease 8.8 SDHA SDHAF2 SDHB SDHC SDHD TMEM127
36 phaeochromocytoma 8.8 RET SDHAF2 SDHB SDHC SDHD TMEM127

Graphical network of the top 20 diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:



Diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes

Symptoms & Phenotypes for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Human phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

59 32 (showing 41, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 extraadrenal pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006737
2 adrenal pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006748
3 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
4 glomerulosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0000096
5 episodic paroxysmal anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000740
6 episodic hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001069
7 hypertensive retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001095
8 cerebral hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0001342
9 dysphonia 59 32 frequent (33%) Frequent (79-30%) HP:0001618
10 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
11 palpitations 59 32 frequent (33%) Frequent (79-30%) HP:0001962
12 nausea 59 32 frequent (33%) Frequent (79-30%) HP:0002018
13 recurrent paroxysmal headache 59 32 frequent (33%) Frequent (79-30%) HP:0002331
14 episodic abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002574
15 paraganglioma of head and neck 59 32 frequent (33%) Frequent (79-30%) HP:0002864
16 hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0003072
17 elevated urinary norepinephrine 59 32 frequent (33%) Frequent (79-30%) HP:0003345
18 positive regitine blocking test 59 32 frequent (33%) Frequent (79-30%) HP:0003574
19 elevated urinary epinephrine 59 32 frequent (33%) Frequent (79-30%) HP:0003639
20 pulsatile tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0008629
21 paroxysmal vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0010532
22 sinus tachycardia 59 32 frequent (33%) Frequent (79-30%) HP:0011703
23 elevated urinary dopamine 59 32 frequent (33%) Frequent (79-30%) HP:0011979
24 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
25 flushing 59 32 frequent (33%) Frequent (79-30%) HP:0031284
26 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
27 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
28 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
29 pallor 59 32 occasional (7.5%) Occasional (29-5%) HP:0000980
30 cranial nerve compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0001293
31 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
32 vocal cord paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001605
33 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
34 elevated calcitonin 59 32 occasional (7.5%) Occasional (29-5%) HP:0003528
35 renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005584
36 retinal capillary hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009711
37 arachnoid hemangiomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012222
38 panic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0025269
39 aniridia 59 32 very rare (1%) Very rare (<4-1%) HP:0000526
40 paraganglioma 59 Very frequent (99-80%)
41 hypertension associated with pheochromocytoma 59 Frequent (79-30%)

UMLS symptoms related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:


aphonia

GenomeRNAi Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

26 (showing 8, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.58 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.58 MAX RET SDHD VHL
3 Decreased viability GR00221-A-3 9.58 MAX
4 Decreased viability GR00221-A-4 9.58 RET SDHD
5 Decreased viability GR00231-A 9.58 RET
6 Decreased viability GR00301-A 9.58 RET VHL
7 Decreased viability GR00381-A-1 9.58 SDHD
8 Decreased viability GR00402-S-2 9.58 MAX RET SDHD VHL

Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic Tests for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic tests related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

# Genetic test Affiliating Genes
1 Hereditary Paraganglioma-Pheochromocytoma Syndromes 29 MAX

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

MalaCards organs/tissues related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

41
Testes, Tongue, Adrenal Gland, Kidney, Heart, Bone

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Articles related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

(showing 8, show less)
# Title Authors Year
1
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )
2018
2
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste-Reply. ( 28837712 )
2017
3
Multimodality Radionuclide Imaging in a Patient With Hereditary Paraganglioma-Pheochromocytoma Syndrome. ( 28902732 )
2017
4
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste. ( 28837713 )
2017
5
Palliation of Extensive Metastatic Bone Disease With 223Ra-Dichloride I+-Particle Therapy in a Patient With Malignant Hereditary Paraganglioma-Pheochromocytoma Syndrome With SDHB Mutation. ( 26359562 )
2016
6
Combined Treatment With 131I-MIBG and Sunitinib Induces Remission in a Patient With Metastatic Paraganglioma Due to Hereditary Paraganglioma-Pheochromocytoma Syndrome From an SDHB Mutation. ( 26359568 )
2016
7
Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations. ( 24375508 )
2013
8
Hereditary Paraganglioma-Pheochromocytoma Syndromes ( 20301715 )
1993

Variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes

ClinVar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

6
(showing 547, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh37 Chromosome 11, 61205292: 61205292
2 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh38 Chromosome 11, 61437820: 61437820
3 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
4 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916
5 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
6 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939
7 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
8 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh38 Chromosome 11, 112088971: 112088971
9 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555
10 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh38 Chromosome 11, 112094831: 112094831
11 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh37 Chromosome 11, 111958623: 111958623
12 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh38 Chromosome 11, 112087899: 112087899
13 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh37 Chromosome 11, 111957634: 111957634
14 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh38 Chromosome 11, 112086910: 112086910
15 SDHD NM_003002.3(SDHD): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh37 Chromosome 11, 111965630: 111965630
16 SDHD NM_003002.3(SDHD): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh38 Chromosome 11, 112094906: 112094906
17 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
18 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh37 Chromosome 11, 111958585: 111958585
19 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
20 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh38 Chromosome 1, 161356841: 161356841
21 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
22 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh38 Chromosome 1, 17033078: 17033078
23 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
24 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh38 Chromosome 1, 17024025: 17024025
25 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
26 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh38 Chromosome 1, 17022648: 17022648
27 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
28 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh38 Chromosome 1, 17044882: 17044882
29 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
30 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh38 Chromosome 1, 17028605: 17028605
31 SDHD NM_003002.3(SDHD): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs80338846 GRCh37 Chromosome 11, 111959705: 111959705
32 SDHD NM_003002.3(SDHD): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs80338846 GRCh38 Chromosome 11, 112088981: 112088981
33 MAX NM_002382.4(MAX): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs387906650 GRCh37 Chromosome 14, 65544703: 65544703
34 MAX NM_002382.4(MAX): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs387906650 GRCh38 Chromosome 14, 65077985: 65077985
35 MAX NM_002382.4(MAX): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs387906651 GRCh37 Chromosome 14, 65560500: 65560500
36 MAX NM_002382.4(MAX): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs387906651 GRCh38 Chromosome 14, 65093782: 65093782
37 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
38 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh38 Chromosome 1, 17028599: 17028599
39 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh37 Chromosome 1, 161293426: 161293426
40 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh38 Chromosome 1, 161323636: 161323636
41 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
42 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh38 Chromosome 1, 17028737: 17028737
43 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
44 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516836 GRCh38 Chromosome 1, 17024015: 17024015
45 TMEM127 NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs) deletion Likely pathogenic rs121908822 GRCh37 Chromosome 2, 96920712: 96920715
46 TMEM127 NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs) deletion Likely pathogenic rs121908822 GRCh38 Chromosome 2, 96254974: 96254977
47 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553
48 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058
49 SDHB NM_003000.2(SDHB): c.575G> A (p.Cys192Tyr) single nucleotide variant Pathogenic rs397516835 GRCh37 Chromosome 1, 17350535: 17350535
50 SDHB NM_003000.2(SDHB): c.575G> A (p.Cys192Tyr) single nucleotide variant Pathogenic rs397516835 GRCh38 Chromosome 1, 17024040: 17024040
51 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
52 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh38 Chromosome 1, 17022684: 17022684
53 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
54 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh38 Chromosome 1, 17044825: 17044825
55 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
56 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh38 Chromosome 1, 17053947: 17053947
57 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh37 Chromosome 11, 111965693: 111965693
58 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh38 Chromosome 11, 112094969: 112094969
59 SDHB NM_003000.2(SDHB): c.277T> C (p.Cys93Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs727503415 GRCh37 Chromosome 1, 17359564: 17359564
60 SDHB NM_003000.2(SDHB): c.277T> C (p.Cys93Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs727503415 GRCh38 Chromosome 1, 17033069: 17033069
61 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Likely pathogenic rs727504457 GRCh37 Chromosome 1, 17359581: 17359581
62 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Likely pathogenic rs727504457 GRCh38 Chromosome 1, 17033086: 17033086
63 TMEM127 NM_017849.3(TMEM127): c.308delG (p.Gly103Alafs) deletion Likely pathogenic rs727503490 GRCh37 Chromosome 2, 96920672: 96920672
64 TMEM127 NM_017849.3(TMEM127): c.308delG (p.Gly103Alafs) deletion Likely pathogenic rs727503490 GRCh38 Chromosome 2, 96254934: 96254934
65 SDHD NM_003002.3(SDHD): c.*(?_286)_*(387_?)del deletion Likely pathogenic GRCh37 Chromosome 11, 111965980: 111966081
66 SDHD NM_003002.3(SDHD): c.*(?_286)_*(387_?)del deletion Likely pathogenic GRCh38 Chromosome 11, 112095256: 112095357
67 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh37 Chromosome 1, 161326622: 161326622
68 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh38 Chromosome 1, 161356832: 161356832
69 SDHB NM_003000.2(SDHB): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic rs138996609 GRCh37 Chromosome 1, 17349180: 17349180
70 SDHB NM_003000.2(SDHB): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic rs138996609 GRCh38 Chromosome 1, 17022685: 17022685
71 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
72 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh38 Chromosome 1, 17024015: 17024015
73 SDHB NM_003000.2(SDHB): c.574T> C (p.Cys192Arg) single nucleotide variant Pathogenic rs786202732 GRCh38 Chromosome 1, 17024041: 17024041
74 SDHB NM_003000.2(SDHB): c.574T> C (p.Cys192Arg) single nucleotide variant Pathogenic rs786202732 GRCh37 Chromosome 1, 17350536: 17350536
75 SDHB NM_003000.2(SDHB): c.541-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs786201161 GRCh37 Chromosome 1, 17350571: 17350571
76 SDHB NM_003000.2(SDHB): c.541-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs786201161 GRCh38 Chromosome 1, 17024076: 17024076
77 SDHB NM_003000.2(SDHB): c.286+1G> A single nucleotide variant Likely pathogenic rs786201063 GRCh37 Chromosome 1, 17359554: 17359554
78 SDHB NM_003000.2(SDHB): c.286+1G> A single nucleotide variant Likely pathogenic rs786201063 GRCh38 Chromosome 1, 17033059: 17033059
79 SDHB NM_003000.2(SDHB): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely pathogenic rs772551056 GRCh37 Chromosome 1, 17371319: 17371319
80 SDHB NM_003000.2(SDHB): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely pathogenic rs772551056 GRCh38 Chromosome 1, 17044824: 17044824
81 SDHB NM_003000.2(SDHB): c.88delC (p.Gln30Argfs) deletion Pathogenic rs747198089 GRCh37 Chromosome 1, 17371368: 17371368
82 SDHB NM_003000.2(SDHB): c.88delC (p.Gln30Argfs) deletion Pathogenic rs747198089 GRCh38 Chromosome 1, 17044873: 17044873
83 SDHB NM_003000.2(SDHB): c.26T> A (p.Leu9Ter) single nucleotide variant Pathogenic rs786203800 GRCh37 Chromosome 1, 17380489: 17380489
84 SDHB NM_003000.2(SDHB): c.26T> A (p.Leu9Ter) single nucleotide variant Pathogenic rs786203800 GRCh38 Chromosome 1, 17053994: 17053994
85 TMEM127 NM_017849.3(TMEM127): c.565C> T (p.Leu189=) single nucleotide variant Benign/Likely benign rs146965678 GRCh37 Chromosome 2, 96919698: 96919698
86 TMEM127 NM_017849.3(TMEM127): c.565C> T (p.Leu189=) single nucleotide variant Benign/Likely benign rs146965678 GRCh38 Chromosome 2, 96253960: 96253960
87 TMEM127 NM_017849.3(TMEM127): c.394G> A (p.Ala132Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs750870974 GRCh37 Chromosome 2, 96920586: 96920586
88 TMEM127 NM_017849.3(TMEM127): c.394G> A (p.Ala132Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs750870974 GRCh38 Chromosome 2, 96254848: 96254848
89 TMEM127 NM_017849.3(TMEM127): c.324C> T (p.Leu108=) single nucleotide variant Likely benign rs148381232 GRCh37 Chromosome 2, 96920656: 96920656
90 TMEM127 NM_017849.3(TMEM127): c.324C> T (p.Leu108=) single nucleotide variant Likely benign rs148381232 GRCh38 Chromosome 2, 96254918: 96254918
91 TMEM127 NM_017849.3(TMEM127): c.288C> T (p.Ile96=) single nucleotide variant Conflicting interpretations of pathogenicity rs758726687 GRCh37 Chromosome 2, 96920692: 96920692
92 TMEM127 NM_017849.3(TMEM127): c.288C> T (p.Ile96=) single nucleotide variant Conflicting interpretations of pathogenicity rs758726687 GRCh38 Chromosome 2, 96254954: 96254954
93 TMEM127 NM_017849.3(TMEM127): c.253A> G (p.Met85Val) single nucleotide variant Uncertain significance rs771261665 GRCh37 Chromosome 2, 96920727: 96920727
94 TMEM127 NM_017849.3(TMEM127): c.253A> G (p.Met85Val) single nucleotide variant Uncertain significance rs771261665 GRCh38 Chromosome 2, 96254989: 96254989
95 SDHD NM_003002.3(SDHD): c.298_301delACTC (p.Thr100Phefs) deletion Pathogenic rs786203067 GRCh37 Chromosome 11, 111959719: 111959722
96 SDHD NM_003002.3(SDHD): c.298_301delACTC (p.Thr100Phefs) deletion Pathogenic rs786203067 GRCh38 Chromosome 11, 112088995: 112088998
97 MAX NM_002382.4(MAX): c.279T> C (p.Ala93=) single nucleotide variant Likely benign rs145370107 GRCh37 Chromosome 14, 65544647: 65544647
98 MAX NM_002382.4(MAX): c.279T> C (p.Ala93=) single nucleotide variant Likely benign rs145370107 GRCh38 Chromosome 14, 65077929: 65077929
99 SDHB NM_003000.2(SDHB): c.343C> T (p.Arg115Ter) single nucleotide variant Pathogenic rs751000085 GRCh37 Chromosome 1, 17355175: 17355175
100 SDHB NM_003000.2(SDHB): c.343C> T (p.Arg115Ter) single nucleotide variant Pathogenic rs751000085 GRCh38 Chromosome 1, 17028680: 17028680
101 SDHB NM_003000.2(SDHB): c.526G> T (p.Glu176Ter) single nucleotide variant Pathogenic rs794728946 GRCh37 Chromosome 1, 17354258: 17354258
102 SDHB NM_003000.2(SDHB): c.526G> T (p.Glu176Ter) single nucleotide variant Pathogenic rs794728946 GRCh38 Chromosome 1, 17027763: 17027763
103 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh37 Chromosome 1, 17350523: 17350523
104 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh38 Chromosome 1, 17024028: 17024028
105 SDHB NM_003000.2(SDHB): c.566G> T (p.Cys189Phe) single nucleotide variant Likely pathogenic rs876658540 GRCh37 Chromosome 1, 17350544: 17350544
106 SDHB NM_003000.2(SDHB): c.566G> T (p.Cys189Phe) single nucleotide variant Likely pathogenic rs876658540 GRCh38 Chromosome 1, 17024049: 17024049
107 SDHB NM_003000.2(SDHB): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs876658451 GRCh37 Chromosome 1, 17354339: 17354339
108 SDHB NM_003000.2(SDHB): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs876658451 GRCh38 Chromosome 1, 17027844: 17027844
109 SDHB NM_003000.2(SDHB): c.80G> A (p.Arg27Gln) single nucleotide variant Uncertain significance rs373976827 GRCh37 Chromosome 1, 17371376: 17371376
110 SDHB NM_003000.2(SDHB): c.80G> A (p.Arg27Gln) single nucleotide variant Uncertain significance rs373976827 GRCh38 Chromosome 1, 17044881: 17044881
111 SDHAF2 NM_017841.2(SDHAF2): c.205C> T (p.Arg69Cys) single nucleotide variant Uncertain significance rs532255760 GRCh37 Chromosome 11, 61205265: 61205265
112 SDHAF2 NM_017841.2(SDHAF2): c.205C> T (p.Arg69Cys) single nucleotide variant Uncertain significance rs532255760 GRCh38 Chromosome 11, 61437793: 61437793
113 MAX NM_002382.4(MAX): c.467G> A (p.Arg156Gln) single nucleotide variant Uncertain significance rs876659544 GRCh37 Chromosome 14, 65543210: 65543210
114 MAX NM_002382.4(MAX): c.467G> A (p.Arg156Gln) single nucleotide variant Uncertain significance rs876659544 GRCh38 Chromosome 14, 65076492: 65076492
115 MAX NM_002382.4(MAX): c.41A> G (p.Glu14Gly) single nucleotide variant Uncertain significance rs876660888 GRCh37 Chromosome 14, 65568286: 65568286
116 MAX NM_002382.4(MAX): c.41A> G (p.Glu14Gly) single nucleotide variant Uncertain significance rs876660888 GRCh38 Chromosome 14, 65101568: 65101568
117 SDHB NM_003000.2(SDHB): c.271A> T (p.Arg91Ter) single nucleotide variant Pathogenic rs878854575 GRCh37 Chromosome 1, 17359570: 17359570
118 SDHB NM_003000.2(SDHB): c.271A> T (p.Arg91Ter) single nucleotide variant Pathogenic rs878854575 GRCh38 Chromosome 1, 17033075: 17033075
119 TMEM127 NM_017849.3(TMEM127): c.-131-?_*3600del deletion Pathogenic GRCh38 Chromosome 2, 96250208: 96265512
120 TMEM127 NM_017849.3(TMEM127): c.-131-?_*3600del deletion Pathogenic GRCh37 Chromosome 2, 96915946: 96931250
121 TMEM127 NM_017849.3(TMEM127): c.619G> A (p.Ala207Thr) single nucleotide variant Uncertain significance rs756818796 GRCh38 Chromosome 2, 96253906: 96253906
122 TMEM127 NM_017849.3(TMEM127): c.619G> A (p.Ala207Thr) single nucleotide variant Uncertain significance rs756818796 GRCh37 Chromosome 2, 96919644: 96919644
123 TMEM127 NM_017849.3(TMEM127): c.534C> T (p.Tyr178=) single nucleotide variant Benign/Likely benign rs550833832 GRCh38 Chromosome 2, 96253991: 96253991
124 TMEM127 NM_017849.3(TMEM127): c.534C> T (p.Tyr178=) single nucleotide variant Benign/Likely benign rs550833832 GRCh37 Chromosome 2, 96919729: 96919729
125 TMEM127 NM_017849.3(TMEM127): c.494A> G (p.His165Arg) single nucleotide variant Uncertain significance rs752030320 GRCh38 Chromosome 2, 96254031: 96254031
126 TMEM127 NM_017849.3(TMEM127): c.494A> G (p.His165Arg) single nucleotide variant Uncertain significance rs752030320 GRCh37 Chromosome 2, 96919769: 96919769
127 TMEM127 NM_017849.3(TMEM127): c.409+7C> T single nucleotide variant Benign/Likely benign rs189327749 GRCh37 Chromosome 2, 96920564: 96920564
128 TMEM127 NM_017849.3(TMEM127): c.409+7C> T single nucleotide variant Benign/Likely benign rs189327749 GRCh38 Chromosome 2, 96254826: 96254826
129 TMEM127 NM_017849.3(TMEM127): c.292G> A (p.Ala98Thr) single nucleotide variant Uncertain significance rs369144563 GRCh37 Chromosome 2, 96920688: 96920688
130 TMEM127 NM_017849.3(TMEM127): c.292G> A (p.Ala98Thr) single nucleotide variant Uncertain significance rs369144563 GRCh38 Chromosome 2, 96254950: 96254950
131 TMEM127 NM_017849.3(TMEM127): c.289G> A (p.Ala97Thr) single nucleotide variant Uncertain significance rs752938517 GRCh38 Chromosome 2, 96254953: 96254953
132 TMEM127 NM_017849.3(TMEM127): c.289G> A (p.Ala97Thr) single nucleotide variant Uncertain significance rs752938517 GRCh37 Chromosome 2, 96920691: 96920691
133 TMEM127 NM_017849.3(TMEM127): c.53C> T (p.Pro18Leu) single nucleotide variant Benign/Likely benign rs377740271 GRCh38 Chromosome 2, 96265329: 96265329
134 TMEM127 NM_017849.3(TMEM127): c.53C> T (p.Pro18Leu) single nucleotide variant Benign/Likely benign rs377740271 GRCh37 Chromosome 2, 96931067: 96931067
135 SDHD NM_003002.3(SDHD): c.209G> A (p.Arg70Lys) single nucleotide variant Uncertain significance rs755047928 GRCh37 Chromosome 11, 111959630: 111959630
136 SDHD NM_003002.3(SDHD): c.209G> A (p.Arg70Lys) single nucleotide variant Uncertain significance rs755047928 GRCh38 Chromosome 11, 112088906: 112088906
137 SDHAF2 NM_017841.2(SDHAF2): c.36+10G> A single nucleotide variant Benign/Likely benign rs114207859 GRCh37 Chromosome 11, 61197664: 61197664
138 SDHAF2 NM_017841.2(SDHAF2): c.36+10G> A single nucleotide variant Benign/Likely benign rs114207859 GRCh38 Chromosome 11, 61430192: 61430192
139 SDHAF2 NM_017841.2(SDHAF2): c.63A> G (p.Leu21=) single nucleotide variant Benign/Likely benign rs191513932 GRCh38 Chromosome 11, 61437651: 61437651
140 SDHAF2 NM_017841.2(SDHAF2): c.63A> G (p.Leu21=) single nucleotide variant Benign/Likely benign rs191513932 GRCh37 Chromosome 11, 61205123: 61205123
141 SDHAF2 NM_017841.2(SDHAF2): c.239T> C (p.Leu80Ser) single nucleotide variant Uncertain significance rs376560419 GRCh38 Chromosome 11, 61437827: 61437827
142 SDHAF2 NM_017841.2(SDHAF2): c.239T> C (p.Leu80Ser) single nucleotide variant Uncertain significance rs376560419 GRCh37 Chromosome 11, 61205299: 61205299
143 SDHAF2 NM_017841.2(SDHAF2): c.490A> G (p.Lys164Glu) single nucleotide variant Uncertain significance rs150187184 GRCh38 Chromosome 11, 61446060: 61446060
144 SDHAF2 NM_017841.2(SDHAF2): c.490A> G (p.Lys164Glu) single nucleotide variant Uncertain significance rs150187184 GRCh37 Chromosome 11, 61213532: 61213532
145 MAX NM_002382.4(MAX): c.397G> A (p.Ala133Thr) single nucleotide variant Uncertain significance rs750459929 GRCh37 Chromosome 14, 65543280: 65543280
146 MAX NM_002382.4(MAX): c.397G> A (p.Ala133Thr) single nucleotide variant Uncertain significance rs750459929 GRCh38 Chromosome 14, 65076562: 65076562
147 MAX NM_002382.4(MAX): c.341A> C (p.Asn114Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs772912674 GRCh37 Chromosome 14, 65543336: 65543336
148 MAX NM_002382.4(MAX): c.341A> C (p.Asn114Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs772912674 GRCh38 Chromosome 14, 65076618: 65076618
149 MAX NM_002382.4(MAX): c.329A> C (p.Gln110Pro) single nucleotide variant Uncertain significance rs775808138 GRCh38 Chromosome 14, 65076630: 65076630
150 MAX NM_002382.4(MAX): c.329A> C (p.Gln110Pro) single nucleotide variant Uncertain significance rs775808138 GRCh37 Chromosome 14, 65543348: 65543348
151 MAX NM_002382.4(MAX): c.285G> A (p.Leu95=) single nucleotide variant Uncertain significance rs878854500 GRCh37 Chromosome 14, 65544641: 65544641
152 MAX NM_002382.4(MAX): c.285G> A (p.Leu95=) single nucleotide variant Uncertain significance rs878854500 GRCh38 Chromosome 14, 65077923: 65077923
153 MAX NM_002382.4(MAX): c.284T> C (p.Leu95Pro) single nucleotide variant Uncertain significance rs878854499 GRCh38 Chromosome 14, 65077924: 65077924
154 MAX NM_002382.4(MAX): c.284T> C (p.Leu95Pro) single nucleotide variant Uncertain significance rs878854499 GRCh37 Chromosome 14, 65544642: 65544642
155 TMEM127 NM_017849.3(TMEM127): c.464T> A (p.Leu155Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886039439 GRCh37 Chromosome 2, 96919799: 96919799
156 TMEM127 NM_017849.3(TMEM127): c.464T> A (p.Leu155Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886039439 GRCh38 Chromosome 2, 96254061: 96254061
157 SDHD NM_003002.3(SDHD): c.53dupC (p.Leu19Serfs) duplication Pathogenic rs886041237 GRCh37 Chromosome 11, 111958581: 111958581
158 SDHD NM_003002.3(SDHD): c.53dupC (p.Leu19Serfs) duplication Pathogenic rs886041237 GRCh38 Chromosome 11, 112087857: 112087857
159 TMEM127 NM_017849.3(TMEM127): c.281G> A (p.Arg94Gln) single nucleotide variant Uncertain significance rs746831347 GRCh37 Chromosome 2, 96920699: 96920699
160 TMEM127 NM_017849.3(TMEM127): c.281G> A (p.Arg94Gln) single nucleotide variant Uncertain significance rs746831347 GRCh38 Chromosome 2, 96254961: 96254961
161 MAX NM_002382.4(MAX): c.25G> T (p.Val9Leu) single nucleotide variant Uncertain significance rs201743423 GRCh38 Chromosome 14, 65102315: 65102315
162 MAX NM_002382.4(MAX): c.25G> T (p.Val9Leu) single nucleotide variant Uncertain significance rs201743423 GRCh37 Chromosome 14, 65569033: 65569033
163 TMEM127 NM_017849.3(TMEM127): c.117_120delGTCT (p.Ile41Argfs) deletion Pathogenic rs121908816 GRCh37 Chromosome 2, 96931000: 96931003
164 TMEM127 NM_017849.3(TMEM127): c.117_120delGTCT (p.Ile41Argfs) deletion Pathogenic rs121908816 GRCh38 Chromosome 2, 96265262: 96265265
165 SDHAF2 NM_017841.2(SDHAF2): c.355dupT (p.Tyr119Leufs) duplication Uncertain significance GRCh38 Chromosome 11, 61438098: 61438098
166 SDHAF2 NM_017841.2(SDHAF2): c.355dupT (p.Tyr119Leufs) duplication Uncertain significance GRCh37 Chromosome 11, 61205570: 61205570
167 SDHB NM_003000.2(SDHB): c.331_332delCT (p.Leu111Serfs) deletion Pathogenic rs1060503751 GRCh37 Chromosome 1, 17355186: 17355187
168 SDHB NM_003000.2(SDHB): c.331_332delCT (p.Leu111Serfs) deletion Pathogenic rs1060503751 GRCh38 Chromosome 1, 17028691: 17028692
169 TMEM127 NM_017849.3(TMEM127): c.666G> A (p.Ala222=) single nucleotide variant Likely benign rs772481029 GRCh37 Chromosome 2, 96919597: 96919597
170 TMEM127 NM_017849.3(TMEM127): c.666G> A (p.Ala222=) single nucleotide variant Likely benign rs772481029 GRCh38 Chromosome 2, 96253859: 96253859
171 TMEM127 NM_017849.3(TMEM127): c.600C> A (p.Pro200=) single nucleotide variant Likely benign rs1060503974 GRCh37 Chromosome 2, 96919663: 96919663
172 TMEM127 NM_017849.3(TMEM127): c.600C> A (p.Pro200=) single nucleotide variant Likely benign rs1060503974 GRCh38 Chromosome 2, 96253925: 96253925
173 TMEM127 NM_017849.3(TMEM127): c.522C> T (p.Ala174=) single nucleotide variant Likely benign rs367951215 GRCh37 Chromosome 2, 96919741: 96919741
174 TMEM127 NM_017849.3(TMEM127): c.522C> T (p.Ala174=) single nucleotide variant Likely benign rs367951215 GRCh38 Chromosome 2, 96254003: 96254003
175 TMEM127 NM_017849.3(TMEM127): c.408G> T (p.Thr136=) single nucleotide variant Uncertain significance rs143522428 GRCh37 Chromosome 2, 96920572: 96920572
176 TMEM127 NM_017849.3(TMEM127): c.408G> T (p.Thr136=) single nucleotide variant Uncertain significance rs143522428 GRCh38 Chromosome 2, 96254834: 96254834
177 TMEM127 NM_017849.3(TMEM127): c.213G> A (p.Val71=) single nucleotide variant Likely benign rs777169152 GRCh37 Chromosome 2, 96930907: 96930907
178 TMEM127 NM_017849.3(TMEM127): c.213G> A (p.Val71=) single nucleotide variant Likely benign rs777169152 GRCh38 Chromosome 2, 96265169: 96265169
179 TMEM127 NM_017849.3(TMEM127): c.665C> T (p.Ala222Val) single nucleotide variant Uncertain significance rs373951977 GRCh38 Chromosome 2, 96253860: 96253860
180 TMEM127 NM_017849.3(TMEM127): c.665C> T (p.Ala222Val) single nucleotide variant Uncertain significance rs373951977 GRCh37 Chromosome 2, 96919598: 96919598
181 TMEM127 NM_017849.3(TMEM127): c.228C> A (p.His76Gln) single nucleotide variant Uncertain significance rs1060500599 GRCh38 Chromosome 2, 96265154: 96265154
182 TMEM127 NM_017849.3(TMEM127): c.228C> A (p.His76Gln) single nucleotide variant Uncertain significance rs1060500599 GRCh37 Chromosome 2, 96930892: 96930892
183 TMEM127 NM_017849.3(TMEM127): c.80C> T (p.Pro27Leu) single nucleotide variant Uncertain significance rs983504110 GRCh38 Chromosome 2, 96265302: 96265302
184 TMEM127 NM_017849.3(TMEM127): c.80C> T (p.Pro27Leu) single nucleotide variant Uncertain significance rs983504110 GRCh37 Chromosome 2, 96931040: 96931040
185 TMEM127 NM_017849.3(TMEM127): c.671A> G (p.Tyr224Cys) single nucleotide variant Uncertain significance rs1060500598 GRCh37 Chromosome 2, 96919592: 96919592
186 TMEM127 NM_017849.3(TMEM127): c.671A> G (p.Tyr224Cys) single nucleotide variant Uncertain significance rs1060500598 GRCh38 Chromosome 2, 96253854: 96253854
187 TMEM127 NM_017849.3(TMEM127): c.620C> T (p.Ala207Val) single nucleotide variant Uncertain significance rs751044006 GRCh37 Chromosome 2, 96919643: 96919643
188 TMEM127 NM_017849.3(TMEM127): c.620C> T (p.Ala207Val) single nucleotide variant Uncertain significance rs751044006 GRCh38 Chromosome 2, 96253905: 96253905
189 TMEM127 NM_017849.3(TMEM127): c.573G> A (p.Thr191=) single nucleotide variant Likely benign rs147816248 GRCh37 Chromosome 2, 96919690: 96919690
190 TMEM127 NM_017849.3(TMEM127): c.573G> A (p.Thr191=) single nucleotide variant Likely benign rs147816248 GRCh38 Chromosome 2, 96253952: 96253952
191 TMEM127 NM_017849.3(TMEM127): c.550G> C (p.Gly184Arg) single nucleotide variant Uncertain significance rs1060500597 GRCh37 Chromosome 2, 96919713: 96919713
192 TMEM127 NM_017849.3(TMEM127): c.550G> C (p.Gly184Arg) single nucleotide variant Uncertain significance rs1060500597 GRCh38 Chromosome 2, 96253975: 96253975
193 TMEM127 NM_017849.3(TMEM127): c.413T> C (p.Leu138Pro) single nucleotide variant Uncertain significance rs772714957 GRCh37 Chromosome 2, 96919850: 96919850
194 TMEM127 NM_017849.3(TMEM127): c.413T> C (p.Leu138Pro) single nucleotide variant Uncertain significance rs772714957 GRCh38 Chromosome 2, 96254112: 96254112
195 TMEM127 NM_017849.3(TMEM127): c.280C> A (p.Arg94=) single nucleotide variant Likely benign rs121908824 GRCh37 Chromosome 2, 96920700: 96920700
196 TMEM127 NM_017849.3(TMEM127): c.280C> A (p.Arg94=) single nucleotide variant Likely benign rs121908824 GRCh38 Chromosome 2, 96254962: 96254962
197 TMEM127 NM_017849.3(TMEM127): c.88A> G (p.Ser30Gly) single nucleotide variant Uncertain significance rs763476625 GRCh37 Chromosome 2, 96931032: 96931032
198 TMEM127 NM_017849.3(TMEM127): c.88A> G (p.Ser30Gly) single nucleotide variant Uncertain significance rs763476625 GRCh38 Chromosome 2, 96265294: 96265294
199 TMEM127 NM_017849.3(TMEM127): c.39C> A (p.Arg13=) single nucleotide variant Likely benign rs1060503975 GRCh37 Chromosome 2, 96931081: 96931081
200 TMEM127 NM_017849.3(TMEM127): c.39C> A (p.Arg13=) single nucleotide variant Likely benign rs1060503975 GRCh38 Chromosome 2, 96265343: 96265343
201 TMEM127 NM_017849.3(TMEM127): c.672T> C (p.Tyr224=) single nucleotide variant Likely benign rs201935270 GRCh37 Chromosome 2, 96919591: 96919591
202 TMEM127 NM_017849.3(TMEM127): c.672T> C (p.Tyr224=) single nucleotide variant Likely benign rs201935270 GRCh38 Chromosome 2, 96253853: 96253853
203 TMEM127 NM_017849.3(TMEM127): c.598C> A (p.Pro200Thr) single nucleotide variant Uncertain significance rs200351681 GRCh37 Chromosome 2, 96919665: 96919665
204 TMEM127 NM_017849.3(TMEM127): c.598C> A (p.Pro200Thr) single nucleotide variant Uncertain significance rs200351681 GRCh38 Chromosome 2, 96253927: 96253927
205 TMEM127 NM_017849.3(TMEM127): c.519C> T (p.Phe173=) single nucleotide variant Likely benign rs758676810 GRCh37 Chromosome 2, 96919744: 96919744
206 TMEM127 NM_017849.3(TMEM127): c.519C> T (p.Phe173=) single nucleotide variant Likely benign rs758676810 GRCh38 Chromosome 2, 96254006: 96254006
207 SDHAF2 NM_017841.2(SDHAF2): c.15A> G (p.Thr5=) single nucleotide variant Likely benign rs144511254 GRCh37 Chromosome 11, 61197633: 61197633
208 SDHAF2 NM_017841.2(SDHAF2): c.15A> G (p.Thr5=) single nucleotide variant Likely benign rs144511254 GRCh38 Chromosome 11, 61430161: 61430161
209 SDHAF2 NM_017841.2(SDHAF2): c.21C> T (p.Phe7=) single nucleotide variant Likely benign rs892955355 GRCh37 Chromosome 11, 61197639: 61197639
210 SDHAF2 NM_017841.2(SDHAF2): c.21C> T (p.Phe7=) single nucleotide variant Likely benign rs892955355 GRCh38 Chromosome 11, 61430167: 61430167
211 SDHAF2 NM_017841.2(SDHAF2): c.261-9delT deletion Likely benign rs1060504900 GRCh37 Chromosome 11, 61205467: 61205467
212 SDHAF2 NM_017841.2(SDHAF2): c.261-9delT deletion Likely benign rs1060504900 GRCh38 Chromosome 11, 61437995: 61437995
213 SDHAF2 NM_017841.2(SDHAF2): c.331G> A (p.Glu111Lys) single nucleotide variant Uncertain significance rs145616631 GRCh37 Chromosome 11, 61205546: 61205546
214 SDHAF2 NM_017841.2(SDHAF2): c.331G> A (p.Glu111Lys) single nucleotide variant Uncertain significance rs145616631 GRCh38 Chromosome 11, 61438074: 61438074
215 SDHAF2 NM_017841.2(SDHAF2): c.371-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs375280597 GRCh37 Chromosome 11, 61213411: 61213411
216 SDHAF2 NM_017841.2(SDHAF2): c.371-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs375280597 GRCh38 Chromosome 11, 61445939: 61445939
217 SDHAF2 NM_017841.2(SDHAF2): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs1060503392 GRCh38 Chromosome 11, 61430148: 61430148
218 SDHAF2 NM_017841.2(SDHAF2): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs1060503392 GRCh37 Chromosome 11, 61197620: 61197620
219 SDHAF2 NM_017841.2(SDHAF2): c.13A> G (p.Thr5Ala) single nucleotide variant Uncertain significance rs775763888 GRCh38 Chromosome 11, 61430159: 61430159
220 SDHAF2 NM_017841.2(SDHAF2): c.13A> G (p.Thr5Ala) single nucleotide variant Uncertain significance rs775763888 GRCh37 Chromosome 11, 61197631: 61197631
221 SDHAF2 NM_017841.2(SDHAF2): c.294A> G (p.Thr98=) single nucleotide variant Likely benign rs762441285 GRCh37 Chromosome 11, 61205509: 61205509
222 SDHAF2 NM_017841.2(SDHAF2): c.294A> G (p.Thr98=) single nucleotide variant Likely benign rs762441285 GRCh38 Chromosome 11, 61438037: 61438037
223 SDHAF2 NM_017841.2(SDHAF2): c.319C> T (p.Arg107Cys) single nucleotide variant Likely benign rs140191819 GRCh37 Chromosome 11, 61205534: 61205534
224 SDHAF2 NM_017841.2(SDHAF2): c.319C> T (p.Arg107Cys) single nucleotide variant Likely benign rs140191819 GRCh38 Chromosome 11, 61438062: 61438062
225 SDHAF2 NM_017841.2(SDHAF2): c.385C> T (p.Pro129Ser) single nucleotide variant Uncertain significance rs1060503391 GRCh37 Chromosome 11, 61213427: 61213427
226 SDHAF2 NM_017841.2(SDHAF2): c.385C> T (p.Pro129Ser) single nucleotide variant Uncertain significance rs1060503391 GRCh38 Chromosome 11, 61445955: 61445955
227 SDHAF2 NM_017841.2(SDHAF2): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance rs572576746 GRCh37 Chromosome 11, 61213472: 61213472
228 SDHAF2 NM_017841.2(SDHAF2): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance rs572576746 GRCh38 Chromosome 11, 61446000: 61446000
229 SDHAF2 NM_017841.2(SDHAF2): c.7G> T (p.Val3Leu) single nucleotide variant Uncertain significance rs149277592 GRCh38 Chromosome 11, 61430153: 61430153
230 SDHAF2 NM_017841.2(SDHAF2): c.7G> T (p.Val3Leu) single nucleotide variant Uncertain significance rs149277592 GRCh37 Chromosome 11, 61197625: 61197625
231 SDHAF2 NM_017841.2(SDHAF2): c.157C> T (p.Pro53Ser) single nucleotide variant Uncertain significance rs1060503390 GRCh38 Chromosome 11, 61437745: 61437745
232 SDHAF2 NM_017841.2(SDHAF2): c.157C> T (p.Pro53Ser) single nucleotide variant Uncertain significance rs1060503390 GRCh37 Chromosome 11, 61205217: 61205217
233 SDHAF2 NM_017841.2(SDHAF2): c.221G> A (p.Ser74Asn) single nucleotide variant Uncertain significance rs1060503389 GRCh38 Chromosome 11, 61437809: 61437809
234 SDHAF2 NM_017841.2(SDHAF2): c.221G> A (p.Ser74Asn) single nucleotide variant Uncertain significance rs1060503389 GRCh37 Chromosome 11, 61205281: 61205281
235 SDHAF2 NM_017841.2(SDHAF2): c.460C> T (p.Arg154Cys) single nucleotide variant Uncertain significance rs778585796 GRCh38 Chromosome 11, 61446030: 61446030
236 SDHAF2 NM_017841.2(SDHAF2): c.460C> T (p.Arg154Cys) single nucleotide variant Uncertain significance rs778585796 GRCh37 Chromosome 11, 61213502: 61213502
237 SDHAF2 NM_017841.2(SDHAF2): c.476A> C (p.Glu159Ala) single nucleotide variant Uncertain significance rs140920079 GRCh38 Chromosome 11, 61446046: 61446046
238 SDHAF2 NM_017841.2(SDHAF2): c.476A> C (p.Glu159Ala) single nucleotide variant Uncertain significance rs140920079 GRCh37 Chromosome 11, 61213518: 61213518
239 MAX NC_000014.9: g.(?_65101546)_(65102544_?)del deletion Pathogenic GRCh37 Chromosome 14, 65568264: 65569262
240 MAX NC_000014.9: g.(?_65101546)_(65102544_?)del deletion Pathogenic GRCh38 Chromosome 14, 65101546: 65102544
241 MAX NM_002382.4(MAX): c.375C> T (p.Asn125=) single nucleotide variant Likely benign rs370238588 GRCh37 Chromosome 14, 65543302: 65543302
242 MAX NM_002382.4(MAX): c.375C> T (p.Asn125=) single nucleotide variant Likely benign rs370238588 GRCh38 Chromosome 14, 65076584: 65076584
243 MAX NM_002382.4(MAX): c.337A> T (p.Thr113Ser) single nucleotide variant Uncertain significance rs1060500100 GRCh37 Chromosome 14, 65543340: 65543340
244 MAX NM_002382.4(MAX): c.337A> T (p.Thr113Ser) single nucleotide variant Uncertain significance rs1060500100 GRCh38 Chromosome 14, 65076622: 65076622
245 MAX NM_002382.4(MAX): c.21C> A (p.Ile7=) single nucleotide variant Likely benign rs760248675 GRCh37 Chromosome 14, 65569037: 65569037
246 MAX NM_002382.4(MAX): c.21C> A (p.Ile7=) single nucleotide variant Likely benign rs760248675 GRCh38 Chromosome 14, 65102319: 65102319
247 MAX NM_002382.4(MAX): c.425C> T (p.Ser142Leu) single nucleotide variant Uncertain significance rs760147253 GRCh37 Chromosome 14, 65543252: 65543252
248 MAX NM_002382.4(MAX): c.425C> T (p.Ser142Leu) single nucleotide variant Uncertain significance rs760147253 GRCh38 Chromosome 14, 65076534: 65076534
249 MAX NM_002382.4(MAX): c.295+10C> G single nucleotide variant Likely benign rs375446224 GRCh37 Chromosome 14, 65544621: 65544621
250 MAX NM_002382.4(MAX): c.295+10C> G single nucleotide variant Likely benign rs375446224 GRCh38 Chromosome 14, 65077903: 65077903
251 MAX NM_002382.4(MAX): c.295+6C> T single nucleotide variant Uncertain significance rs146552320 GRCh37 Chromosome 14, 65544625: 65544625
252 MAX NM_002382.4(MAX): c.295+6C> T single nucleotide variant Uncertain significance rs146552320 GRCh38 Chromosome 14, 65077907: 65077907
253 MAX NM_002382.4(MAX): c.268C> T (p.Arg90Trp) single nucleotide variant Uncertain significance rs1060500099 GRCh37 Chromosome 14, 65544658: 65544658
254 MAX NM_002382.4(MAX): c.268C> T (p.Arg90Trp) single nucleotide variant Uncertain significance rs1060500099 GRCh38 Chromosome 14, 65077940: 65077940
255 MAX NM_002382.4(MAX): c.211_221delATCCAGTATAT (p.Ile71Alafs) deletion Pathogenic rs1060500101 GRCh38 Chromosome 14, 65077987: 65077997
256 MAX NM_002382.4(MAX): c.211_221delATCCAGTATAT (p.Ile71Alafs) deletion Pathogenic rs1060500101 GRCh37 Chromosome 14, 65544705: 65544715
257 MAX NM_002382.4(MAX): c.63+8T> C single nucleotide variant Likely benign rs776724315 GRCh38 Chromosome 14, 65101538: 65101538
258 MAX NM_002382.4(MAX): c.63+8T> C single nucleotide variant Likely benign rs776724315 GRCh37 Chromosome 14, 65568256: 65568256
259 MAX NM_002382.4(MAX): c.415G> A (p.Asp139Asn) single nucleotide variant Uncertain significance rs772397458 GRCh37 Chromosome 14, 65543262: 65543262
260 MAX NM_002382.4(MAX): c.415G> A (p.Asp139Asn) single nucleotide variant Uncertain significance rs772397458 GRCh38 Chromosome 14, 65076544: 65076544
261 MAX NM_002382.4(MAX): c.414G> A (p.Ser138=) single nucleotide variant Conflicting interpretations of pathogenicity rs559090673 GRCh37 Chromosome 14, 65543263: 65543263
262 MAX NM_002382.4(MAX): c.414G> A (p.Ser138=) single nucleotide variant Conflicting interpretations of pathogenicity rs559090673 GRCh38 Chromosome 14, 65076545: 65076545
263 MAX NM_002382.4(MAX): c.171+6T> C single nucleotide variant Uncertain significance rs1060500098 GRCh37 Chromosome 14, 65560420: 65560420
264 MAX NM_002382.4(MAX): c.171+6T> C single nucleotide variant Uncertain significance rs1060500098 GRCh38 Chromosome 14, 65093702: 65093702
265 MAX NM_002382.4(MAX): c.56A> T (p.Gln19Leu) single nucleotide variant Uncertain significance rs200547781 GRCh37 Chromosome 14, 65568271: 65568271
266 MAX NM_002382.4(MAX): c.56A> T (p.Gln19Leu) single nucleotide variant Uncertain significance rs200547781 GRCh38 Chromosome 14, 65101553: 65101553
267 MAX NM_002382.4(MAX): c.426G> A (p.Ser142=) single nucleotide variant Likely benign rs145787299 GRCh38 Chromosome 14, 65076533: 65076533
268 MAX NM_002382.4(MAX): c.426G> A (p.Ser142=) single nucleotide variant Likely benign rs145787299 GRCh37 Chromosome 14, 65543251: 65543251
269 MAX NM_002382.4(MAX): c.298C> T (p.Arg100Cys) single nucleotide variant Uncertain significance rs762084527 GRCh38 Chromosome 14, 65076661: 65076661
270 MAX NM_002382.4(MAX): c.298C> T (p.Arg100Cys) single nucleotide variant Uncertain significance rs762084527 GRCh37 Chromosome 14, 65543379: 65543379
271 MAX NM_002382.4(MAX): c.102A> G (p.Lys34=) single nucleotide variant Likely benign rs1060503836 GRCh38 Chromosome 14, 65093777: 65093777
272 MAX NM_002382.4(MAX): c.102A> G (p.Lys34=) single nucleotide variant Likely benign rs1060503836 GRCh37 Chromosome 14, 65560495: 65560495
273 SDHC NM_003001.3(SDHC): c.377A> G (p.Tyr126Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs898854295 GRCh37 Chromosome 1, 161326602: 161326602
274 SDHC NM_003001.3(SDHC): c.377A> G (p.Tyr126Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs898854295 GRCh38 Chromosome 1, 161356812: 161356812
275 SDHB NM_003000.2(SDHB): c.287G> A (p.Gly96Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs778952116 GRCh37 Chromosome 1, 17355231: 17355231
276 SDHB NM_003000.2(SDHB): c.287G> A (p.Gly96Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs778952116 GRCh38 Chromosome 1, 17028736: 17028736
277 SDHB NM_003000.2(SDHB): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs1131691049 GRCh37 Chromosome 1, 17380514: 17380514
278 SDHB NM_003000.2(SDHB): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs1131691049 GRCh38 Chromosome 1, 17054019: 17054019
279 SDHD NM_003002.3(SDHD): c.148C> G (p.His50Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs779249550 GRCh37 Chromosome 11, 111958676: 111958676
280 SDHD NM_003002.3(SDHD): c.148C> G (p.His50Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs779249550 GRCh38 Chromosome 11, 112087952: 112087952
281 SDHC NM_003001.3(SDHC): c.218G> A (p.Gly73Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 161340632: 161340632
282 SDHC NM_003001.3(SDHC): c.218G> A (p.Gly73Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 161310422: 161310422
283 SDHC NM_003001.3(SDHC): c.406_510del105 (p.Met136_Ter170delinsArgLys) deletion Pathogenic GRCh38 Chromosome 1, 161362329: 161362433
284 SDHC NM_003001.3(SDHC): c.406_510del105 (p.Met136_Ter170delinsArgLys) deletion Pathogenic GRCh37 Chromosome 1, 161332119: 161332223
285 SDHB NM_003000.2(SDHB): c.761_762insC (p.Lys255Terfs) insertion Pathogenic GRCh38 Chromosome 1, 17022611: 17022612
286 SDHB NM_003000.2(SDHB): c.761_762insC (p.Lys255Terfs) insertion Pathogenic GRCh37 Chromosome 1, 17349106: 17349107
287 SDHB NM_003000.2(SDHB): c.736A> T (p.Ile246Phe) single nucleotide variant Pathogenic rs146800605 GRCh37 Chromosome 1, 17349132: 17349132
288 SDHB NM_003000.2(SDHB): c.736A> T (p.Ile246Phe) single nucleotide variant Pathogenic rs146800605 GRCh38 Chromosome 1, 17022637: 17022637
289 SDHB NM_003000.2(SDHB): c.683_684delAG (p.Glu228Glyfs) deletion Pathogenic rs762812025 GRCh38 Chromosome 1, 17022689: 17022690
290 SDHB NM_003000.2(SDHB): c.683_684delAG (p.Glu228Glyfs) deletion Pathogenic rs762812025 GRCh37 Chromosome 1, 17349184: 17349185
291 SDHB NM_003000.2(SDHB): c.642+1G> A single nucleotide variant Pathogenic rs1131691052 GRCh38 Chromosome 1, 17023972: 17023972
292 SDHB NM_003000.2(SDHB): c.642+1G> A single nucleotide variant Pathogenic rs1131691052 GRCh37 Chromosome 1, 17350467: 17350467
293 SDHB NM_003000.2(SDHB): c.642G> C (p.Gln214His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 17023973: 17023973
294 SDHB NM_003000.2(SDHB): c.642G> C (p.Gln214His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 17350468: 17350468
295 SDHB NM_003000.2(SDHB): c.553G> T (p.Glu185Ter) single nucleotide variant Pathogenic rs1045881797 GRCh38 Chromosome 1, 17024062: 17024062
296 SDHB NM_003000.2(SDHB): c.553G> T (p.Glu185Ter) single nucleotide variant Pathogenic rs1045881797 GRCh37 Chromosome 1, 17350557: 17350557
297 SDHB NM_003000.2(SDHB): c.540G> A (p.Leu180=) single nucleotide variant Likely pathogenic rs528442805 GRCh38 Chromosome 1, 17027749: 17027749
298 SDHB NM_003000.2(SDHB): c.540G> A (p.Leu180=) single nucleotide variant Likely pathogenic rs528442805 GRCh37 Chromosome 1, 17354244: 17354244
299 SDHB NM_003000.2(SDHB): c.523_527delGAAGAinsAAGG (p.Glu175Lysfs) indel Pathogenic GRCh37 Chromosome 1, 17354257: 17354261
300 SDHB NM_003000.2(SDHB): c.523_527delGAAGAinsAAGG (p.Glu175Lysfs) indel Pathogenic GRCh38 Chromosome 1, 17027762: 17027766
301 SDHB NM_003000.2(SDHB): c.490C> T (p.Gln164Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 17027799: 17027799
302 SDHB NM_003000.2(SDHB): c.490C> T (p.Gln164Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 17354294: 17354294
303 SDHB NM_003000.2(SDHB): c.445_447delCAGinsGGTATCT (p.Gln149Glyfs) indel Pathogenic GRCh38 Chromosome 1, 17027842: 17027844
304 SDHB NM_003000.2(SDHB): c.445_447delCAGinsGGTATCT (p.Gln149Glyfs) indel Pathogenic GRCh37 Chromosome 1, 17354337: 17354339
305 SDHB NM_003000.2(SDHB): c.392delC (p.Pro131Hisfs) deletion Pathogenic GRCh37 Chromosome 1, 17355126: 17355126
306 SDHB NM_003000.2(SDHB): c.392delC (p.Pro131Hisfs) deletion Pathogenic GRCh38 Chromosome 1, 17028631: 17028631
307 SDHB NM_003000.2(SDHB): c.369_370insA (p.Val124Serfs) insertion Pathogenic GRCh38 Chromosome 1, 17028653: 17028654
308 SDHB NM_003000.2(SDHB): c.369_370insA (p.Val124Serfs) insertion Pathogenic GRCh37 Chromosome 1, 17355148: 17355149
309 SDHB NM_003000.2(SDHB): c.348_352delGATTG (p.Ile117Hisfs) deletion Likely pathogenic GRCh38 Chromosome 1, 17028671: 17028675
310 SDHB NM_003000.2(SDHB): c.348_352delGATTG (p.Ile117Hisfs) deletion Likely pathogenic GRCh37 Chromosome 1, 17355166: 17355170
311 SDHB NM_003000.2(SDHB): c.287-3C> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 17028739: 17028739
312 SDHB NM_003000.2(SDHB): c.287-3C> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 17355234: 17355234
313 SDHB NM_003000.2(SDHB): c.275C> A (p.Ser92Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 17359566: 17359566
314 SDHB NM_003000.2(SDHB): c.275C> A (p.Ser92Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 17033071: 17033071
315 SDHB NM_003000.2(SDHB): c.274T> C (p.Ser92Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 17359567: 17359567
316 SDHB NM_003000.2(SDHB): c.274T> C (p.Ser92Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 17033072: 17033072
317 SDHB NM_003000.2(SDHB): c.183T> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs760169139 GRCh38 Chromosome 1, 17044778: 17044778
318 SDHB NM_003000.2(SDHB): c.183T> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs760169139 GRCh37 Chromosome 1, 17371273: 17371273
319 SDHB NM_003000.2(SDHB): c.73-9A> G single nucleotide variant Pathogenic GRCh38 Chromosome 1, 17044897: 17044897
320 SDHB NM_003000.2(SDHB): c.73-9A> G single nucleotide variant Pathogenic GRCh37 Chromosome 1, 17371392: 17371392
321 SDHB NM_003000.2(SDHB): c.1_72del72 (p.Met1_Gln24del) deletion Pathogenic GRCh38 Chromosome 1, 17053948: 17054019
322 SDHB NM_003000.2(SDHB): c.1_72del72 (p.Met1_Gln24del) deletion Pathogenic GRCh37 Chromosome 1, 17380443: 17380514
323 SDHD NM_003002.3(SDHD): c.170-1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 11, 112088866: 112088866
324 SDHD NM_003002.3(SDHD): c.170-1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 11, 111959590: 111959590
325 SDHD NM_003002.3(SDHD): c.239T> G (p.Leu80Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 112088936: 112088936
326 SDHD NM_003002.3(SDHD): c.239T> G (p.Leu80Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111959660: 111959660
327 SDHD NM_003002.3(SDHD): c.314+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 112089012: 112089012
328 SDHD NM_003002.3(SDHD): c.314+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 111959736: 111959736
329 SDHD NM_003002.3(SDHD): c.315_480del166 (p.Trp105Cysfs) deletion Pathogenic GRCh38 Chromosome 11, 112094805: 112094970
330 SDHD NM_003002.3(SDHD): c.315_480del166 (p.Trp105Cysfs) deletion Pathogenic GRCh37 Chromosome 11, 111965529: 111965694
331 SDHD NM_003002.3(SDHD): c.331_333delGTT (p.Val111del) deletion Uncertain significance GRCh37 Chromosome 11, 111965545: 111965547
332 SDHD NM_003002.3(SDHD): c.331_333delGTT (p.Val111del) deletion Uncertain significance GRCh38 Chromosome 11, 112094821: 112094823
333 SDHD NM_003002.3(SDHD): c.342T> A (p.Tyr114Ter) single nucleotide variant Pathogenic rs1050032491 GRCh37 Chromosome 11, 111965556: 111965556
334 SDHD NM_003002.3(SDHD): c.342T> A (p.Tyr114Ter) single nucleotide variant Pathogenic rs1050032491 GRCh38 Chromosome 11, 112094832: 112094832
335 SDHD NM_003002.3(SDHD): c.381delG (p.Leu128Phefs) deletion Pathogenic GRCh38 Chromosome 11, 112094871: 112094871
336 SDHD NM_003002.3(SDHD): c.381delG (p.Leu128Phefs) deletion Pathogenic GRCh37 Chromosome 11, 111965595: 111965595
337 SDHD NM_003002.3(SDHD): c.443G> T (p.Gly148Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111965657: 111965657
338 SDHD NM_003002.3(SDHD): c.443G> T (p.Gly148Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 112094933: 112094933
339 SDHB NM_003000.2: c.1_843del deletion Pathogenic
340 SDHB NM_003000.2: c.73_846del deletion Pathogenic
341 SDHB NM_003000.2: c.287_540del deletion Pathogenic
342 SDHD NM_003002.3: c.1_169del deletion Pathogenic
343 TMEM127 NC_000002.12: g.(?_96253802)_(96265387_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 96253802: 96265387
344 TMEM127 NM_017849.3(TMEM127): c.430A> T (p.Ile144Phe) single nucleotide variant Uncertain significance rs896909534 GRCh38 Chromosome 2, 96254095: 96254095
345 TMEM127 NM_017849.3(TMEM127): c.430A> T (p.Ile144Phe) single nucleotide variant Uncertain significance rs896909534 GRCh37 Chromosome 2, 96919833: 96919833
346 TMEM127 NM_017849.3(TMEM127): c.410-5C> T single nucleotide variant Likely benign GRCh38 Chromosome 2, 96254120: 96254120
347 TMEM127 NM_017849.3(TMEM127): c.410-5C> T single nucleotide variant Likely benign GRCh37 Chromosome 2, 96919858: 96919858
348 TMEM127 NM_017849.3(TMEM127): c.133T> A (p.Cys45Ser) single nucleotide variant Uncertain significance rs995979769 GRCh38 Chromosome 2, 96265249: 96265249
349 TMEM127 NM_017849.3(TMEM127): c.133T> A (p.Cys45Ser) single nucleotide variant Uncertain significance rs995979769 GRCh37 Chromosome 2, 96930987: 96930987
350 TMEM127 NM_017849.3(TMEM127): c.81G> A (p.Pro27=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96931039: 96931039
351 TMEM127 NM_017849.3(TMEM127): c.81G> A (p.Pro27=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96265301: 96265301
352 TMEM127 NM_017849.3(TMEM127): c.519C> A (p.Phe173Leu) single nucleotide variant Uncertain significance rs758676810 GRCh38 Chromosome 2, 96254006: 96254006
353 TMEM127 NM_017849.3(TMEM127): c.519C> A (p.Phe173Leu) single nucleotide variant Uncertain significance rs758676810 GRCh37 Chromosome 2, 96919744: 96919744
354 TMEM127 NM_017849.3(TMEM127): c.496G> A (p.Gly166Arg) single nucleotide variant Uncertain significance rs372120755 GRCh38 Chromosome 2, 96254029: 96254029
355 TMEM127 NM_017849.3(TMEM127): c.496G> A (p.Gly166Arg) single nucleotide variant Uncertain significance rs372120755 GRCh37 Chromosome 2, 96919767: 96919767
356 TMEM127 NM_017849.3(TMEM127): c.469C> T (p.Gln157Ter) single nucleotide variant Pathogenic rs780133289 GRCh38 Chromosome 2, 96254056: 96254056
357 TMEM127 NM_017849.3(TMEM127): c.469C> T (p.Gln157Ter) single nucleotide variant Pathogenic rs780133289 GRCh37 Chromosome 2, 96919794: 96919794
358 TMEM127 NM_017849.3(TMEM127): c.212T> A (p.Val71Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265170: 96265170
359 TMEM127 NM_017849.3(TMEM127): c.212T> A (p.Val71Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96930908: 96930908
360 TMEM127 NM_017849.3(TMEM127): c.124_125delAC (p.Thr42Glyfs) deletion Pathogenic GRCh38 Chromosome 2, 96265257: 96265258
361 TMEM127 NM_017849.3(TMEM127): c.124_125delAC (p.Thr42Glyfs) deletion Pathogenic GRCh37 Chromosome 2, 96930995: 96930996
362 TMEM127 NM_017849.3(TMEM127): c.102C> T (p.Ala34=) single nucleotide variant Likely benign rs781643869 GRCh38 Chromosome 2, 96265280: 96265280
363 TMEM127 NM_017849.3(TMEM127): c.102C> T (p.Ala34=) single nucleotide variant Likely benign rs781643869 GRCh37 Chromosome 2, 96931018: 96931018
364 TMEM127 NM_017849.3(TMEM127): c.94G> T (p.Ala32Ser) single nucleotide variant Uncertain significance rs770347064 GRCh38 Chromosome 2, 96265288: 96265288
365 TMEM127 NM_017849.3(TMEM127): c.94G> T (p.Ala32Ser) single nucleotide variant Uncertain significance rs770347064 GRCh37 Chromosome 2, 96931026: 96931026
366 TMEM127 NM_017849.3(TMEM127): c.12C> T (p.Pro4=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96265370: 96265370
367 TMEM127 NM_017849.3(TMEM127): c.12C> T (p.Pro4=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96931108: 96931108
368 TMEM127 NM_017849.3(TMEM127): c.663G> A (p.Pro221=) single nucleotide variant Likely benign rs377760956 GRCh38 Chromosome 2, 96253862: 96253862
369 TMEM127 NM_017849.3(TMEM127): c.663G> A (p.Pro221=) single nucleotide variant Likely benign rs377760956 GRCh37 Chromosome 2, 96919600: 96919600
370 TMEM127 NM_017849.3(TMEM127): c.562A> G (p.Ile188Val) single nucleotide variant Uncertain significance rs762657413 GRCh38 Chromosome 2, 96253963: 96253963
371 TMEM127 NM_017849.3(TMEM127): c.562A> G (p.Ile188Val) single nucleotide variant Uncertain significance rs762657413 GRCh37 Chromosome 2, 96919701: 96919701
372 TMEM127 NM_017849.3(TMEM127): c.553G> A (p.Gly185Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96253972: 96253972
373 TMEM127 NM_017849.3(TMEM127): c.553G> A (p.Gly185Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96919710: 96919710
374 TMEM127 NM_017849.3(TMEM127): c.427G> A (p.Val143Ile) single nucleotide variant Uncertain significance rs772153618 GRCh38 Chromosome 2, 96254098: 96254098
375 TMEM127 NM_017849.3(TMEM127): c.427G> A (p.Val143Ile) single nucleotide variant Uncertain significance rs772153618 GRCh37 Chromosome 2, 96919836: 96919836
376 TMEM127 NM_017849.3(TMEM127): c.393C> T (p.Phe131=) single nucleotide variant Likely benign rs756680897 GRCh38 Chromosome 2, 96254849: 96254849
377 TMEM127 NM_017849.3(TMEM127): c.393C> T (p.Phe131=) single nucleotide variant Likely benign rs756680897 GRCh37 Chromosome 2, 96920587: 96920587
378 TMEM127 NM_017849.3(TMEM127): c.377C> T (p.Thr126Ile) single nucleotide variant Uncertain significance rs775944671 GRCh38 Chromosome 2, 96254865: 96254865
379 TMEM127 NM_017849.3(TMEM127): c.377C> T (p.Thr126Ile) single nucleotide variant Uncertain significance rs775944671 GRCh37 Chromosome 2, 96920603: 96920603
380 TMEM127 NM_017849.3(TMEM127): c.136A> G (p.Thr46Ala) single nucleotide variant Uncertain significance rs144659242 GRCh38 Chromosome 2, 96265246: 96265246
381 TMEM127 NM_017849.3(TMEM127): c.136A> G (p.Thr46Ala) single nucleotide variant Uncertain significance rs144659242 GRCh37 Chromosome 2, 96930984: 96930984
382 TMEM127 NM_017849.3(TMEM127): c.56G> T (p.Gly19Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931064: 96931064
383 TMEM127 NM_017849.3(TMEM127): c.56G> T (p.Gly19Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265326: 96265326
384 TMEM127 NM_017849.3(TMEM127): c.283delG (p.Val95Serfs) deletion Pathogenic GRCh38 Chromosome 2, 96254959: 96254959
385 TMEM127 NM_017849.3(TMEM127): c.283delG (p.Val95Serfs) deletion Pathogenic GRCh37 Chromosome 2, 96920697: 96920697
386 TMEM127 NM_017849.3(TMEM127): c.210C> T (p.Asp70=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96265172: 96265172
387 TMEM127 NM_017849.3(TMEM127): c.210C> T (p.Asp70=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96930910: 96930910
388 TMEM127 NM_017849.3(TMEM127): c.166A> G (p.Ile56Val) single nucleotide variant Uncertain significance rs751779219 GRCh38 Chromosome 2, 96265216: 96265216
389 TMEM127 NM_017849.3(TMEM127): c.166A> G (p.Ile56Val) single nucleotide variant Uncertain significance rs751779219 GRCh37 Chromosome 2, 96930954: 96930954
390 TMEM127 NM_017849.3(TMEM127): c.158G> A (p.Trp53Ter) single nucleotide variant Pathogenic rs121908818 GRCh38 Chromosome 2, 96265224: 96265224
391 TMEM127 NM_017849.3(TMEM127): c.158G> A (p.Trp53Ter) single nucleotide variant Pathogenic rs121908818 GRCh37 Chromosome 2, 96930962: 96930962
392 TMEM127 NM_017849.3(TMEM127): c.100G> A (p.Ala34Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265282: 96265282
393 TMEM127 NM_017849.3(TMEM127): c.100G> A (p.Ala34Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931020: 96931020
394 TMEM127 NM_017849.3(TMEM127): c.67C> A (p.Leu23Met) single nucleotide variant Uncertain significance rs749807415 GRCh38 Chromosome 2, 96265315: 96265315
395 TMEM127 NM_017849.3(TMEM127): c.67C> A (p.Leu23Met) single nucleotide variant Uncertain significance rs749807415 GRCh37 Chromosome 2, 96931053: 96931053
396 TMEM127 NM_017849.3(TMEM127): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265374: 96265374
397 TMEM127 NM_017849.3(TMEM127): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931112: 96931112
398 SDHAF2 NM_017841.2(SDHAF2): c.25A> G (p.Thr9Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61197643: 61197643
399 SDHAF2 NM_017841.2(SDHAF2): c.25A> G (p.Thr9Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61430171: 61430171
400 SDHAF2 NM_017841.2(SDHAF2): c.32C> T (p.Ser11Leu) single nucleotide variant Likely benign rs148425779 GRCh37 Chromosome 11, 61197650: 61197650
401 SDHAF2 NM_017841.2(SDHAF2): c.32C> T (p.Ser11Leu) single nucleotide variant Likely benign rs148425779 GRCh38 Chromosome 11, 61430178: 61430178
402 SDHAF2 NM_017841.2(SDHAF2): c.370+8G> C single nucleotide variant Likely benign rs764742919 GRCh37 Chromosome 11, 61205593: 61205593
403 SDHAF2 NM_017841.2(SDHAF2): c.370+8G> C single nucleotide variant Likely benign rs764742919 GRCh38 Chromosome 11, 61438121: 61438121
404 SDHAF2 NM_017841.2(SDHAF2): c.496C> T (p.Arg166Cys) single nucleotide variant Uncertain significance rs968303021 GRCh37 Chromosome 11, 61213538: 61213538
405 SDHAF2 NM_017841.2(SDHAF2): c.496C> T (p.Arg166Cys) single nucleotide variant Uncertain significance rs968303021 GRCh38 Chromosome 11, 61446066: 61446066
406 SDHAF2 NM_017841.2(SDHAF2): c.6G> A (p.Ala2=) single nucleotide variant Likely benign rs747571875 GRCh38 Chromosome 11, 61430152: 61430152
407 SDHAF2 NM_017841.2(SDHAF2): c.6G> A (p.Ala2=) single nucleotide variant Likely benign rs747571875 GRCh37 Chromosome 11, 61197624: 61197624
408 SDHAF2 NM_017841.2(SDHAF2): c.240G> A (p.Leu80=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 61205300: 61205300
409 SDHAF2 NM_017841.2(SDHAF2): c.240G> A (p.Leu80=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 61437828: 61437828
410 SDHAF2 NM_017841.2(SDHAF2): c.383C> T (p.Ala128Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61213425: 61213425
411 SDHAF2 NM_017841.2(SDHAF2): c.383C> T (p.Ala128Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61445953: 61445953
412 SDHAF2 NM_017841.2(SDHAF2): c.156G> A (p.Leu52=) single nucleotide variant Likely benign rs773466310 GRCh37 Chromosome 11, 61205216: 61205216
413 SDHAF2 NM_017841.2(SDHAF2): c.156G> A (p.Leu52=) single nucleotide variant Likely benign rs773466310 GRCh38 Chromosome 11, 61437744: 61437744
414 SDHAF2 NM_017841.2(SDHAF2): c.248G> T (p.Cys83Phe) single nucleotide variant Uncertain significance rs982336783 GRCh37 Chromosome 11, 61205308: 61205308
415 SDHAF2 NM_017841.2(SDHAF2): c.248G> T (p.Cys83Phe) single nucleotide variant Uncertain significance rs982336783 GRCh38 Chromosome 11, 61437836: 61437836
416 SDHAF2 NM_017841.2(SDHAF2): c.260+1G> A single nucleotide variant Likely pathogenic rs749527870 GRCh37 Chromosome 11, 61205321: 61205321
417 SDHAF2 NM_017841.2(SDHAF2): c.260+1G> A single nucleotide variant Likely pathogenic rs749527870 GRCh38 Chromosome 11, 61437849: 61437849
418 SDHAF2 NM_017841.2(SDHAF2): c.264T> G (p.Leu88=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 61205479: 61205479
419 SDHAF2 NM_017841.2(SDHAF2): c.264T> G (p.Leu88=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 61438007: 61438007
420 SDHAF2 NM_017841.2(SDHAF2): c.313T> A (p.Tyr105Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61205528: 61205528
421 SDHAF2 NM_017841.2(SDHAF2): c.313T> A (p.Tyr105Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61438056: 61438056
422 SDHAF2 NM_017841.2(SDHAF2): c.320G> A (p.Arg107His) single nucleotide variant Uncertain significance rs535627239 GRCh37 Chromosome 11, 61205535: 61205535
423 SDHAF2 NM_017841.2(SDHAF2): c.320G> A (p.Arg107His) single nucleotide variant Uncertain significance rs535627239 GRCh38 Chromosome 11, 61438063: 61438063
424 SDHAF2 NM_017841.2(SDHAF2): c.465C> T (p.Ala155=) single nucleotide variant Likely benign rs758154733 GRCh37 Chromosome 11, 61213507: 61213507
425 SDHAF2 NM_017841.2(SDHAF2): c.465C> T (p.Ala155=) single nucleotide variant Likely benign rs758154733 GRCh38 Chromosome 11, 61446035: 61446035
426 SDHAF2 NM_017841.2(SDHAF2): c.497G> A (p.Arg166His) single nucleotide variant Uncertain significance rs768048172 GRCh37 Chromosome 11, 61213539: 61213539
427 SDHAF2 NM_017841.2(SDHAF2): c.497G> A (p.Arg166His) single nucleotide variant Uncertain significance rs768048172 GRCh38 Chromosome 11, 61446067: 61446067
428 SDHAF2 NM_017841.2(SDHAF2): c.37-7A> G single nucleotide variant Likely benign GRCh38 Chromosome 11, 61437618: 61437618
429 SDHAF2 NM_017841.2(SDHAF2): c.37-7A> G single nucleotide variant Likely benign GRCh37 Chromosome 11, 61205090: 61205090
430 SDHAF2 NM_017841.2(SDHAF2): c.109G> T (p.Gly37Cys) single nucleotide variant Uncertain significance rs868016844 GRCh38 Chromosome 11, 61437697: 61437697
431 SDHAF2 NM_017841.2(SDHAF2): c.109G> T (p.Gly37Cys) single nucleotide variant Uncertain significance rs868016844 GRCh37 Chromosome 11, 61205169: 61205169
432 SDHAF2 NM_017841.2(SDHAF2): c.464C> T (p.Ala155Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61446034: 61446034
433 SDHAF2 NM_017841.2(SDHAF2): c.464C> T (p.Ala155Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61213506: 61213506
434 MAX NM_002382.4(MAX): c.432T> A (p.Ser144=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 65076527: 65076527
435 MAX NM_002382.4(MAX): c.432T> A (p.Ser144=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 65543245: 65543245
436 MAX NM_002382.4(MAX): c.360C> A (p.Asn120Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 65076599: 65076599
437 MAX NM_002382.4(MAX): c.360C> A (p.Asn120Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 65543317: 65543317
438 MAX NM_002382.4(MAX): c.295+10C> T single nucleotide variant Likely benign rs375446224 GRCh38 Chromosome 14, 65077903: 65077903
439 MAX NM_002382.4(MAX): c.295+10C> T single nucleotide variant Likely benign rs375446224 GRCh37 Chromosome 14, 65544621: 65544621
440 MAX NM_002382.4(MAX): c.21C> G (p.Ile7Met) single nucleotide variant Uncertain significance rs760248675 GRCh37 Chromosome 14, 65569037: 65569037
441 MAX NM_002382.4(MAX): c.21C> G (p.Ile7Met) single nucleotide variant Uncertain significance rs760248675 GRCh38 Chromosome 14, 65102319: 65102319
442 MAX NC_000014.9: g.(?_65093702)_(65102345_?)del deletion Pathogenic GRCh38 Chromosome 14, 65093702: 65102345
443 MAX NC_000014.9: g.(?_65093702)_(65102345_?)del deletion Pathogenic GRCh37 Chromosome 14, 65560420: 65569063
444 MAX NM_002382.4(MAX): c.406G> A (p.Gly136Arg) single nucleotide variant Uncertain significance rs140490467 GRCh37 Chromosome 14, 65543271: 65543271
445 MAX NM_002382.4(MAX): c.406G> A (p.Gly136Arg) single nucleotide variant Uncertain significance rs140490467 GRCh38 Chromosome 14, 65076553: 65076553
446 MAX NM_002382.4(MAX): c.6C> T (p.Ser2=) single nucleotide variant Likely benign rs138539686 GRCh38 Chromosome 14, 65102334: 65102334
447 MAX NM_002382.4(MAX): c.6C> T (p.Ser2=) single nucleotide variant Likely benign rs138539686 GRCh37 Chromosome 14, 65569052: 65569052
448 MAX NM_002382.4(MAX): c.384C> A (p.Gly128=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 65543293: 65543293
449 MAX NM_002382.4(MAX): c.384C> A (p.Gly128=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 65076575: 65076575
450 MAX NM_002382.4(MAX): c.277G> C (p.Ala93Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 65544649: 65544649
451 MAX NM_002382.4(MAX): c.277G> C (p.Ala93Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 65077931: 65077931
452 MAX NM_002382.4(MAX): c.359A> G (p.Asn120Ser) single nucleotide variant Uncertain significance rs80206158 GRCh37 Chromosome 14, 65543318: 65543318
453 MAX NM_002382.4(MAX): c.359A> G (p.Asn120Ser) single nucleotide variant Uncertain significance rs80206158 GRCh38 Chromosome 14, 65076600: 65076600
454 MAX NM_002382.4(MAX): c.295+8C> G single nucleotide variant Likely benign rs754409025 GRCh37 Chromosome 14, 65544623: 65544623
455 MAX NM_002382.4(MAX): c.295+8C> G single nucleotide variant Likely benign rs754409025 GRCh38 Chromosome 14, 65077905: 65077905
456 MAX NM_002382.4(MAX): c.87T> C (p.Asn29=) single nucleotide variant Likely benign rs771488967 GRCh37 Chromosome 14, 65560510: 65560510
457 MAX NM_002382.4(MAX): c.87T> C (p.Asn29=) single nucleotide variant Likely benign rs771488967 GRCh38 Chromosome 14, 65093792: 65093792
458 MAX NM_002382.4(MAX): c.57A> G (p.Gln19=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 65568270: 65568270
459 MAX NM_002382.4(MAX): c.57A> G (p.Gln19=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 65101552: 65101552
460 SDHB NM_003000.2(SDHB): c.299C> G (p.Ser100Cys) single nucleotide variant Uncertain significance rs121917755 GRCh37 Chromosome 1, 17355219: 17355219
461 SDHB NM_003000.2(SDHB): c.299C> G (p.Ser100Cys) single nucleotide variant Uncertain significance rs121917755 GRCh38 Chromosome 1, 17028724: 17028724
462 TMEM127 NM_017849.3(TMEM127): c.572C> T (p.Thr191Met) single nucleotide variant Benign/Likely benign rs200327514 GRCh38 Chromosome 2, 96253953: 96253953
463 TMEM127 NM_017849.3(TMEM127): c.572C> T (p.Thr191Met) single nucleotide variant Benign/Likely benign rs200327514 GRCh37 Chromosome 2, 96919691: 96919691
464 TMEM127 NM_017849.3(TMEM127): c.52C> T (p.Pro18Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265330: 96265330
465 TMEM127 NM_017849.3(TMEM127): c.52C> T (p.Pro18Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931068: 96931068
466 TMEM127 NM_017849.3(TMEM127): c.121A> G (p.Ile41Val) single nucleotide variant Uncertain significance rs760633411 GRCh37 Chromosome 2, 96930999: 96930999
467 TMEM127 NM_017849.3(TMEM127): c.121A> G (p.Ile41Val) single nucleotide variant Uncertain significance rs760633411 GRCh38 Chromosome 2, 96265261: 96265261
468 MAX NM_002382.4(MAX): c.331C> G (p.Leu111Val) single nucleotide variant Uncertain significance rs748675729 GRCh38 Chromosome 14, 65076628: 65076628
469 MAX NM_002382.4(MAX): c.331C> G (p.Leu111Val) single nucleotide variant Uncertain significance rs748675729 GRCh37 Chromosome 14, 65543346: 65543346
470 SDHC NM_003001.3(SDHC): c.21-3_22delCAGAC deletion Likely pathogenic GRCh37 Chromosome 1, 161293401: 161293405
471 SDHC NM_003001.3(SDHC): c.21-3_22delCAGAC deletion Likely pathogenic GRCh38 Chromosome 1, 161323611: 161323615
472 SDHB NM_003000.2(SDHB): c.445_446insTATGG (p.Gln149Leufs) insertion Likely pathogenic GRCh37 Chromosome 1, 17354338: 17354339
473 SDHB NM_003000.2(SDHB): c.445_446insTATGG (p.Gln149Leufs) insertion Likely pathogenic GRCh38 Chromosome 1, 17027843: 17027844
474 TMEM127 NM_017849.3(TMEM127): c.667G> A (p.Glu223Lys) single nucleotide variant Uncertain significance rs779910556 GRCh38 Chromosome 2, 96253858: 96253858
475 TMEM127 NM_017849.3(TMEM127): c.667G> A (p.Glu223Lys) single nucleotide variant Uncertain significance rs779910556 GRCh37 Chromosome 2, 96919596: 96919596
476 TMEM127 NM_017849.3(TMEM127): c.402C> A (p.Ile134=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96254840: 96254840
477 TMEM127 NM_017849.3(TMEM127): c.402C> A (p.Ile134=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96920578: 96920578
478 TMEM127 NM_017849.3(TMEM127): c.71C> G (p.Pro24Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931049: 96931049
479 TMEM127 NM_017849.3(TMEM127): c.71C> G (p.Pro24Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265311: 96265311
480 TMEM127 NM_017849.3(TMEM127): c.19G> A (p.Ala7Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931101: 96931101
481 TMEM127 NM_017849.3(TMEM127): c.19G> A (p.Ala7Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265363: 96265363
482 TMEM127 NM_017849.3(TMEM127): c.10C> T (p.Pro4Ser) single nucleotide variant Uncertain significance rs1024081498 GRCh37 Chromosome 2, 96931110: 96931110
483 TMEM127 NM_017849.3(TMEM127): c.10C> T (p.Pro4Ser) single nucleotide variant Uncertain significance rs1024081498 GRCh38 Chromosome 2, 96265372: 96265372
484 TMEM127 NM_017849.3(TMEM127): c.364G> A (p.Ala122Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96254878: 96254878
485 TMEM127 NM_017849.3(TMEM127): c.364G> A (p.Ala122Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96920616: 96920616
486 TMEM127 NM_017849.3(TMEM127): c.95C> T (p.Ala32Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265287: 96265287
487 TMEM127 NM_017849.3(TMEM127): c.95C> T (p.Ala32Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931025: 96931025
488 TMEM127 NM_017849.3(TMEM127): c.3G> A (p.Met1Ile) single nucleotide variant Uncertain significance rs121908814 GRCh37 Chromosome 2, 96931117: 96931117
489 TMEM127 NM_017849.3(TMEM127): c.3G> A (p.Met1Ile) single nucleotide variant Uncertain significance rs121908814 GRCh38 Chromosome 2, 96265379: 96265379
490 TMEM127 NM_017849.3(TMEM127): c.651C> T (p.Asn217=) single nucleotide variant Likely benign rs759801591 GRCh38 Chromosome 2, 96253874: 96253874
491 TMEM127 NM_017849.3(TMEM127): c.651C> T (p.Asn217=) single nucleotide variant Likely benign rs759801591 GRCh37 Chromosome 2, 96919612: 96919612
492 TMEM127 NM_017849.3(TMEM127): c.604G> A (p.Glu202Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96253921: 96253921
493 TMEM127 NM_017849.3(TMEM127): c.604G> A (p.Glu202Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96919659: 96919659
494 TMEM127 NM_017849.3(TMEM127): c.598C> T (p.Pro200Ser) single nucleotide variant Uncertain significance rs200351681 GRCh38 Chromosome 2, 96253927: 96253927
495 TMEM127 NM_017849.3(TMEM127): c.598C> T (p.Pro200Ser) single nucleotide variant Uncertain significance rs200351681 GRCh37 Chromosome 2, 96919665: 96919665
496 TMEM127 NM_017849.3(TMEM127): c.490T> C (p.Tyr164His) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96919773: 96919773
497 TMEM127 NM_017849.3(TMEM127): c.490T> C (p.Tyr164His) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96254035: 96254035
498 TMEM127 NM_017849.3(TMEM127): c.419G> T (p.Cys140Phe) single nucleotide variant Uncertain significance rs121908828 GRCh38 Chromosome 2, 96254106: 96254106
499 TMEM127 NM_017849.3(TMEM127): c.419G> T (p.Cys140Phe) single nucleotide variant Uncertain significance rs121908828 GRCh37 Chromosome 2, 96919844: 96919844
500 TMEM127 NM_017849.3(TMEM127): c.411T> A (p.Val137=) single nucleotide variant Likely benign rs760099422 GRCh37 Chromosome 2, 96919852: 96919852
501 TMEM127 NM_017849.3(TMEM127): c.411T> A (p.Val137=) single nucleotide variant Likely benign rs760099422 GRCh38 Chromosome 2, 96254114: 96254114
502 TMEM127 NM_017849.3(TMEM127): c.330T> C (p.Ala110=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96920650: 96920650
503 TMEM127 NM_017849.3(TMEM127): c.330T> C (p.Ala110=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96254912: 96254912
504 TMEM127 NM_017849.3(TMEM127): c.145G> A (p.Ala49Thr) single nucleotide variant Uncertain significance rs577020327 GRCh38 Chromosome 2, 96265237: 96265237
505 TMEM127 NM_017849.3(TMEM127): c.145G> A (p.Ala49Thr) single nucleotide variant Uncertain significance rs577020327 GRCh37 Chromosome 2, 96930975: 96930975
506 TMEM127 NM_017849.3(TMEM127): c.143T> C (p.Leu48Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96930977: 96930977
507 TMEM127 NM_017849.3(TMEM127): c.143T> C (p.Leu48Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265239: 96265239
508 SDHAF2 NM_017841.2(SDHAF2): c.43G> T (p.Ala15Ser) single nucleotide variant Uncertain significance rs1002894711 GRCh38 Chromosome 11, 61437631: 61437631
509 SDHAF2 NM_017841.2(SDHAF2): c.43G> T (p.Ala15Ser) single nucleotide variant Uncertain significance rs1002894711 GRCh37 Chromosome 11, 61205103: 61205103
510 SDHAF2 NM_017841.2(SDHAF2): c.80G> A (p.Ser27Asn) single nucleotide variant Uncertain significance rs759472787 GRCh38 Chromosome 11, 61437668: 61437668
511 SDHAF2 NM_017841.2(SDHAF2): c.80G> A (p.Ser27Asn) single nucleotide variant Uncertain significance rs759472787 GRCh37 Chromosome 11, 61205140: 61205140
512 SDHAF2 NM_017841.2(SDHAF2): c.98G> A (p.Arg33His) single nucleotide variant Uncertain significance rs777442412 GRCh37 Chromosome 11, 61205158: 61205158
513 SDHAF2 NM_017841.2(SDHAF2): c.98G> A (p.Arg33His) single nucleotide variant Uncertain significance rs777442412 GRCh38 Chromosome 11, 61437686: 61437686
514 SDHAF2 NM_017841.2(SDHAF2): c.133A> G (p.Lys45Glu) single nucleotide variant Uncertain significance rs368945911 GRCh38 Chromosome 11, 61437721: 61437721
515 SDHAF2 NM_017841.2(SDHAF2): c.133A> G (p.Lys45Glu) single nucleotide variant Uncertain significance rs368945911 GRCh37 Chromosome 11, 61205193: 61205193
516 SDHAF2 NM_017841.2(SDHAF2): c.305_306insA (p.Asn103Glufs) insertion Pathogenic rs753554501 GRCh38 Chromosome 11, 61438048: 61438049
517 SDHAF2 NM_017841.2(SDHAF2): c.305_306insA (p.Asn103Glufs) insertion Pathogenic rs753554501 GRCh37 Chromosome 11, 61205520: 61205521
518 SDHAF2 NM_017841.2(SDHAF2): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61437806: 61437806
519 SDHAF2 NM_017841.2(SDHAF2): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61205278: 61205278
520 SDHAF2 NM_017841.2(SDHAF2): c.391A> T (p.Ile131Leu) single nucleotide variant Uncertain significance rs773580529 GRCh37 Chromosome 11, 61213433: 61213433
521 SDHAF2 NM_017841.2(SDHAF2): c.391A> T (p.Ile131Leu) single nucleotide variant Uncertain significance rs773580529 GRCh38 Chromosome 11, 61445961: 61445961
522 SDHAF2 NM_017841.2(SDHAF2): c.453G> A (p.Gln151=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 61213495: 61213495
523 SDHAF2 NM_017841.2(SDHAF2): c.453G> A (p.Gln151=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 61446023: 61446023
524 SDHAF2 NM_017841.2(SDHAF2): c.138C> G (p.Asp46Glu) single nucleotide variant Uncertain significance rs969049910 GRCh38 Chromosome 11, 61437726: 61437726
525 SDHAF2 NM_017841.2(SDHAF2): c.138C> G (p.Asp46Glu) single nucleotide variant Uncertain significance rs969049910 GRCh37 Chromosome 11, 61205198: 61205198
526 SDHAF2 NM_017841.2(SDHAF2): c.177dup (p.Asp60Terfs) duplication Pathogenic GRCh37 Chromosome 11, 61205237: 61205237
527 SDHAF2 NM_017841.2(SDHAF2): c.177dup (p.Asp60Terfs) duplication Pathogenic GRCh38 Chromosome 11, 61437765: 61437765
528 SDHAF2 NM_017841.2(SDHAF2): c.327T> A (p.Ile109=) single nucleotide variant Likely benign rs757670376 GRCh38 Chromosome 11, 61438070: 61438070
529 SDHAF2 NM_017841.2(SDHAF2): c.327T> A (p.Ile109=) single nucleotide variant Likely benign rs757670376 GRCh37 Chromosome 11, 61205542: 61205542
530 SDHAF2 NM_017841.2(SDHAF2): c.458T> C (p.Leu153Pro) single nucleotide variant Uncertain significance rs753711279 GRCh38 Chromosome 11, 61446028: 61446028
531 SDHAF2 NM_017841.2(SDHAF2): c.458T> C (p.Leu153Pro) single nucleotide variant Uncertain significance rs753711279 GRCh37 Chromosome 11, 61213500: 61213500
532 MAX NM_002382.4(MAX): c.296-1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 65543382: 65543382
533 MAX NM_002382.4(MAX): c.296-1G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 65076664: 65076664
534 MAX NM_002382.4(MAX): c.219T> A (p.Tyr73Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 65544707: 65544707
535 MAX NM_002382.4(MAX): c.219T> A (p.Tyr73Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 65077989: 65077989
536 MAX NM_002382.4(MAX): c.36+10G> C single nucleotide variant Likely benign GRCh37 Chromosome 14, 65569012: 65569012
537 MAX NM_002382.4(MAX): c.36+10G> C single nucleotide variant Likely benign GRCh38 Chromosome 14, 65102294: 65102294
538 MAX NM_002382.4(MAX): c.228delG (p.Asn78Thrfs) deletion Pathogenic GRCh38 Chromosome 14, 65077980: 65077980
539 MAX NM_002382.4(MAX): c.228delG (p.Asn78Thrfs) deletion Pathogenic GRCh37 Chromosome 14, 65544698: 65544698
540 MAX NM_002382.4(MAX): c.177C> G (p.Ser59=) single nucleotide variant Likely benign rs781103630 GRCh38 Chromosome 14, 65078031: 65078031
541 MAX NM_002382.4(MAX): c.177C> G (p.Ser59=) single nucleotide variant Likely benign rs781103630 GRCh37 Chromosome 14, 65544749: 65544749
542 MAX NM_002382.4(MAX): c.36+9T> C single nucleotide variant Likely benign rs774467253 GRCh38 Chromosome 14, 65102295: 65102295
543 MAX NM_002382.4(MAX): c.36+9T> C single nucleotide variant Likely benign rs774467253 GRCh37 Chromosome 14, 65569013: 65569013
544 MAX NM_002382.4(MAX): c.402C> T (p.Phe134=) single nucleotide variant Likely benign rs765370870 GRCh38 Chromosome 14, 65076557: 65076557
545 MAX NM_002382.4(MAX): c.402C> T (p.Phe134=) single nucleotide variant Likely benign rs765370870 GRCh37 Chromosome 14, 65543275: 65543275
546 MAX NM_002382.4(MAX): c.351C> T (p.Ser117=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 65076608: 65076608
547 MAX NM_002382.4(MAX): c.351C> T (p.Ser117=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 65543326: 65543326

Expression for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Search GEO for disease gene expression data for Hereditary Paraganglioma-Pheochromocytoma Syndromes.

Pathways for Hereditary Paraganglioma-Pheochromocytoma Syndromes

GO Terms for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Cellular components related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 FH KIF1B MDH2 SDHA SDHAF2 SDHB
2 mitochondrial inner membrane GO:0005743 9.63 MDH2 SDHA SDHB SDHC SDHD TIMM8B
3 respiratory chain complex II GO:0045273 9.26 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

Biological processes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 MDH2 SDHA SDHB SDHC SDHD
2 electron transport chain GO:0022900 9.54 SDHA SDHB SDHC
3 respiratory electron transport chain GO:0022904 9.43 SDHA SDHB
4 aerobic respiration GO:0009060 9.33 MDH2 SDHB SDHC
5 succinate metabolic process GO:0006105 9.32 SDHA SDHB
6 malate metabolic process GO:0006108 9.26 FH MDH2
7 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHA SDHAF2 SDHC SDHD
8 tricarboxylic acid cycle GO:0006099 9.17 FH MDH2 SDHA SDHAF2 SDHB SDHC

Molecular functions related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC
3 ubiquinone binding GO:0048039 9.26 SDHB SDHD
4 succinate dehydrogenase activity GO:0000104 9.13 SDHA SDHC SDHD
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHA SDHB SDHC SDHD

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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