SDHAF2 (succinate dehydrogenase complex assembly factor 2) - Rat Genome Database

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Gene: SDHAF2 (succinate dehydrogenase complex assembly factor 2) Homo sapiens
Analyze
Symbol: SDHAF2
Name: succinate dehydrogenase complex assembly factor 2
RGD ID: 1606278
HGNC Page HGNC:26034
Description: Involved in mitochondrial electron transport, succinate to ubiquinone; mitochondrial respiratory chain complex II assembly; and protein-FAD linkage. Acts upstream of or within negative regulation of canonical Wnt signaling pathway; negative regulation of epithelial to mesenchymal transition; and protein dephosphorylation. Located in cytosol; mitochondrion; and nucleolus. Implicated in paraganglioma.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C11orf79; FLJ20487; hSDH5; paraganglioma or familial glomus tumors 2; PGL2; PPGL2; SDH assembly factor 2; SDH5; succinate dehydrogenase assembly factor 2, mitochondrial; succinate dehydrogenase subunit 5, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,430,124 - 61,446,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,430,042 - 61,446,839 (+)EnsemblGRCh38hg38GRCh38
GRCh371161,197,596 - 61,214,205 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361160,954,173 - 60,970,805 (+)NCBINCBI36Build 36hg18NCBI36
Celera1158,533,118 - 58,549,759 (+)NCBICelera
Cytogenetic Map11q12.2NCBI
HuRef1157,525,486 - 57,542,128 (+)NCBIHuRef
CHM1_11161,080,599 - 61,097,240 (+)NCBICHM1_1
T2T-CHM13v2.01161,419,022 - 61,435,631 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA)
mitochondrial matrix  (IEA)
mitochondrion  (HTP,IBA,IDA,IEA)
nucleolus  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Adrenal pheochromocytoma  (IAGP)
Adult onset  (IAGP)
Aniridia  (IAGP)
Arachnoid hemangiomatosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Cerebral hemorrhage  (IAGP)
Chemodectoma  (IAGP)
Chest pain  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Cranial nerve compression  (IAGP)
Cranial nerve paralysis  (IAGP)
Dysphonia  (IAGP)
Elevated circulating calcitonin concentration  (IAGP)
Elevated urinary dopamine level  (IAGP)
Elevated urinary epinephrine level  (IAGP)
Elevated urinary norepinephrine level  (IAGP)
Episodic abdominal pain  (IAGP)
Episodic hyperhidrosis  (IAGP)
Episodic paroxysmal anxiety  (IAGP)
Extraadrenal pheochromocytoma  (IAGP)
Fatigue  (IAGP)
Flushing  (IAGP)
Glomerular sclerosis  (IAGP)
Glomus jugular tumor  (IAGP)
Glomus tympanicum paraganglioma  (IAGP)
Hematuria  (IAGP)
Hoarse voice  (IAGP)
Hypercalcemia  (IAGP)
Hypertension associated with pheochromocytoma  (IAGP)
Hypertensive retinopathy  (IAGP)
Intellectual disability  (IAGP)
Loss of voice  (IAGP)
Nausea  (IAGP)
Neoplasm  (IAGP)
Ovarian neoplasm  (IAGP)
Pallor  (IAGP)
Palpitations  (IAGP)
Panic attack  (IAGP)
Paraganglioma  (IAGP)
Paraganglioma of head and neck  (IAGP)
Paroxysmal vertigo  (IAGP)
Pheochromocytoma  (IAGP)
Positive regitine blocking test  (IAGP)
Proteinuria  (IAGP)
Pulsatile tinnitus  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Renal cell carcinoma  (IAGP)
Retinal capillary hemangioma  (IAGP)
Sinus tachycardia  (IAGP)
Tremor  (IAGP)
Vagal paraganglioma  (IAGP)
Vocal cord paralysis  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7814027   PMID:8981955   PMID:12477932   PMID:16169070   PMID:18029348   PMID:19628817   PMID:19915015   PMID:20071235   PMID:20301715   PMID:20877624   PMID:20972721   PMID:21224366  
PMID:21358191   PMID:21771581   PMID:21873635   PMID:22241717   PMID:22939629   PMID:23061808   PMID:23078982   PMID:23174333   PMID:23291190   PMID:23380393   PMID:23788249   PMID:23983127  
PMID:24322175   PMID:24414418   PMID:24712571   PMID:24973967   PMID:26096992   PMID:26496610   PMID:27296776   PMID:27587393   PMID:28099933   PMID:28384794   PMID:28514442   PMID:29117863  
PMID:29144820   PMID:31588224   PMID:31687641   PMID:32295730   PMID:32296183   PMID:32887801   PMID:33961781   PMID:34237211   PMID:34373451   PMID:34800366   PMID:36215168  


Genomics

Comparative Map Data
SDHAF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,430,124 - 61,446,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,430,042 - 61,446,839 (+)EnsemblGRCh38hg38GRCh38
GRCh371161,197,596 - 61,214,205 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361160,954,173 - 60,970,805 (+)NCBINCBI36Build 36hg18NCBI36
Celera1158,533,118 - 58,549,759 (+)NCBICelera
Cytogenetic Map11q12.2NCBI
HuRef1157,525,486 - 57,542,128 (+)NCBIHuRef
CHM1_11161,080,599 - 61,097,240 (+)NCBICHM1_1
T2T-CHM13v2.01161,419,022 - 61,435,631 (+)NCBIT2T-CHM13v2.0
Sdhaf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391910,477,876 - 10,502,573 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1910,477,898 - 10,503,506 (-)EnsemblGRCm39 Ensembl
GRCm381910,500,512 - 10,525,209 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1910,500,534 - 10,526,142 (-)EnsemblGRCm38mm10GRCm38
MGSCv371910,575,002 - 10,599,699 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361910,568,685 - 10,592,254 (-)NCBIMGSCv36mm8
Celera1911,196,361 - 11,220,981 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map196.6NCBI
Sdhaf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81216,564,002 - 216,592,877 (-)NCBIGRCr8
mRatBN7.21207,139,070 - 207,167,830 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1207,139,112 - 207,168,616 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1215,521,171 - 215,546,172 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01222,576,801 - 222,601,616 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01215,271,804 - 215,296,619 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01226,543,671 - 226,572,414 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1226,547,531 - 226,572,349 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01233,489,879 - 233,518,610 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,983,948 - 213,008,757 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11213,142,378 - 213,167,187 (-)NCBI
Celera1204,636,393 - 204,661,202 (-)NCBICelera
Cytogenetic Map1q43NCBI
Sdhaf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555116,125,966 - 6,139,098 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555116,125,966 - 6,139,098 (-)NCBIChiLan1.0ChiLan1.0
SDHAF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2962,597,981 - 62,641,505 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11163,641,624 - 63,658,366 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01156,729,314 - 56,746,075 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11160,093,656 - 60,110,288 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1160,093,656 - 60,110,288 (+)Ensemblpanpan1.1panPan2
SDHAF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11854,970,987 - 54,986,676 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1854,971,658 - 54,987,394 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1853,545,381 - 53,559,709 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01856,018,425 - 56,034,151 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1856,018,431 - 56,034,842 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11855,078,338 - 55,092,676 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01854,698,954 - 54,714,665 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01855,580,364 - 55,594,705 (-)NCBIUU_Cfam_GSD_1.0
Sdhaf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494711,493,919 - 11,514,572 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365811,607,698 - 1,628,414 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365811,607,741 - 1,628,347 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SDHAF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl210,072,920 - 10,088,117 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1210,074,965 - 10,088,185 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.229,622,544 - 9,635,304 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SDHAF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1112,401,164 - 12,417,389 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl112,398,920 - 12,417,383 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038109,778,143 - 109,794,799 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sdhaf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624926792,173 - 801,954 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624926792,172 - 802,838 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SDHAF2
492 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017841.4(SDHAF2):c.419T>C (p.Leu140Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561249] Chr11:61445989 [GRCh38]
Chr11:61213461 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.156G>A (p.Leu52=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404427]|Hereditary pheochromocytoma-paraganglioma [RCV000548677] Chr11:61437744 [GRCh38]
Chr11:61205216 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566506]|Hereditary pheochromocytoma-paraganglioma [RCV000703323]|Paragangliomas 2 [RCV003471907]|not provided [RCV003478296] Chr11:61437727 [GRCh38]
Chr11:61205199 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.464C>T (p.Ala155Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330867]|Hereditary pheochromocytoma-paraganglioma [RCV000543373] Chr11:61446034 [GRCh38]
Chr11:61213506 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.371-4G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568908]|Hereditary pheochromocytoma-paraganglioma [RCV001438476]|not provided [RCV000869765] Chr11:61445937 [GRCh38]
Chr11:61213409 [GRCh37]
Chr11:11q12.2		 benign|likely benign|uncertain significance
NM_017841.4(SDHAF2):c.240G>A (p.Leu80=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456109]|Hereditary pheochromocytoma-paraganglioma [RCV000526925] Chr11:61437828 [GRCh38]
Chr11:61205300 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019240]|Hereditary pheochromocytoma-paraganglioma [RCV000529961]|Ovarian cancer [RCV003153704]|Paragangliomas 2 [RCV003476260] Chr11:61438063 [GRCh38]
Chr11:61205535 [GRCh37]
Chr11:11q12.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017841.4(SDHAF2):c.177dup (p.Asp60Ter) duplication Hereditary pheochromocytoma-paraganglioma [RCV000639343] Chr11:61437764..61437765 [GRCh38]
Chr11:61205236..61205237 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.24G>A (p.Ser8=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564959]|Hereditary pheochromocytoma-paraganglioma [RCV000872798]|SDHAF2-related disorder [RCV003900284]|not provided [RCV003478297] Chr11:61430170 [GRCh38]
Chr11:61197642 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.260+1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431596]|Hereditary pheochromocytoma-paraganglioma [RCV000526730] Chr11:61437849 [GRCh38]
Chr11:61205321 [GRCh37]
Chr11:11q12.2		 likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.6G>A (p.Ala2=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574509]|Hereditary pheochromocytoma-paraganglioma [RCV000557765]|Paragangliomas 2 [RCV003495146]|SDHAF2-related disorder [RCV003962504]|not provided [RCV002476142] Chr11:61430152 [GRCh38]
Chr11:61197624 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567200]|Hereditary pheochromocytoma-paraganglioma [RCV000540123]|Paragangliomas 2 [RCV002497118]|SDHAF2-related disorder [RCV003905379]|not provided [RCV001530643] Chr11:61430178 [GRCh38]
Chr11:61197650 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165971]|Hereditary pheochromocytoma-paraganglioma [RCV000639339]|Paragangliomas 2 [RCV000000428]|not provided [RCV000519058] Chr11:61437820 [GRCh38]
Chr11:61205292 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568645]|Hereditary pheochromocytoma-paraganglioma [RCV000687293]|Paragangliomas 2 [RCV003473261]|not provided [RCV000034763] Chr11:61437640 [GRCh38]
Chr11:61205112 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.97C>T (p.Arg33Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563333]|Hereditary pheochromocytoma-paraganglioma [RCV001084530]|not provided [RCV000034764]|not specified [RCV000433296] Chr11:61437685 [GRCh38]
Chr11:61205157 [GRCh37]
Chr11:11q12.2		 benign|likely benign|uncertain significance
NM_017841.4(SDHAF2):c.*12C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426693]|Hereditary pheochromocytoma-paraganglioma [RCV000374390]|not provided [RCV000128615]|not specified [RCV000424465] Chr11:61446083 [GRCh38]
Chr11:61213555 [GRCh37]
Chr11:11q12.2		 benign|likely benign|uncertain significance
NM_017841.4(SDHAF2):c.10T>G (p.Ser4Ala) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001348986] Chr11:61430156 [GRCh38]
Chr11:61197628 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3 copy number gain See cases [RCV000136058] Chr11:61409529..61821159 [GRCh38]
Chr11:61177001..61588631 [GRCh37]
Chr11:60933577..61345207 [NCBI36]
Chr11:11q12.2		 likely benign
GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3 copy number gain See cases [RCV000139309] Chr11:61181337..61516830 [GRCh38]
Chr11:60948809..61284302 [GRCh37]
Chr11:60705385..61040878 [NCBI36]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.286C>T (p.His96Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166919]|Hereditary pheochromocytoma-paraganglioma [RCV001248062]|Paragangliomas 2 [RCV004567320] Chr11:61438029 [GRCh38]
Chr11:61205501 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.158C>T (p.Pro53Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399667]|Hereditary pheochromocytoma-paraganglioma [RCV001216373] Chr11:61437746 [GRCh38]
Chr11:61205218 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341319]|Hereditary pheochromocytoma-paraganglioma [RCV000543075]|Paragangliomas 2 [RCV002497119] Chr11:61446067 [GRCh38]
Chr11:61213539 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.330C>T (p.Asn110=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562433]|Hereditary pheochromocytoma-paraganglioma [RCV001435348] Chr11:61438073 [GRCh38]
Chr11:61205545 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255443]|Hereditary pheochromocytoma-paraganglioma [RCV000547322]|Paragangliomas 2 [RCV003476258] Chr11:61430171 [GRCh38]
Chr11:61197643 [GRCh37]
Chr11:11q12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219985]|Hereditary pheochromocytoma-paraganglioma [RCV000468611]|Paragangliomas 2 [RCV003444221]|not provided [RCV002298531] Chr11:61437793 [GRCh38]
Chr11:61205265 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213784]|Hereditary pheochromocytoma-paraganglioma [RCV000689934]|not provided [RCV001558463] Chr11:61438090 [GRCh38]
Chr11:61205562 [GRCh37]
Chr11:11q12.2		 likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222477]|Hereditary pheochromocytoma-paraganglioma [RCV000792983]|Paragangliomas 2 [RCV002503868]|not specified [RCV001800552] Chr11:61437794 [GRCh38]
Chr11:61205266 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.309C>A (p.Asn103Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221377]|Hereditary pheochromocytoma-paraganglioma [RCV001853595] Chr11:61438052 [GRCh38]
Chr11:61205524 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.359A>G (p.Tyr120Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219332]|Paragangliomas 2 [RCV004567668] Chr11:61438102 [GRCh38]
Chr11:61205574 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+10G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000228443]|Paragangliomas 2 [RCV002500807]|not specified [RCV000254091] Chr11:61430192 [GRCh38]
Chr11:61197664 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347911]|Hereditary pheochromocytoma-paraganglioma [RCV000232071]|Paragangliomas 2 [RCV003475832]|not provided [RCV003322764] Chr11:61446060 [GRCh38]
Chr11:61213532 [GRCh37]
Chr11:11q12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017841.4(SDHAF2):c.239T>C (p.Leu80Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569293]|Hereditary pheochromocytoma-paraganglioma [RCV000234685]|Paragangliomas 2 [RCV004567755]|not provided [RCV002307466] Chr11:61437827 [GRCh38]
Chr11:61205299 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.63A>G (p.Leu21=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567740]|Hereditary pheochromocytoma-paraganglioma [RCV000225841]|not provided [RCV001722264] Chr11:61437651 [GRCh38]
Chr11:61205123 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.260+12G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002064158]|not specified [RCV000600813] Chr11:61437860 [GRCh38]
Chr11:61205332 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.261-42G>A single nucleotide variant Paragangliomas 2 [RCV001807190]|not provided [RCV001651225]|not specified [RCV000248502] Chr11:61437962 [GRCh38]
Chr11:61205434 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.36+17T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002058277]|not specified [RCV000245771] Chr11:61430199 [GRCh38]
Chr11:61197671 [GRCh37]
Chr11:11q12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017841.4(SDHAF2):c.*49A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000282634]|not provided [RCV002244785] Chr11:61446120 [GRCh38]
Chr11:61213592 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.*456A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000323915] Chr11:61446527 [GRCh38]
Chr11:61213999 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.*58G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000349236] Chr11:61446129 [GRCh38]
Chr11:61213601 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*378G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000404063] Chr11:61446449 [GRCh38]
Chr11:61213921 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019853]|Hereditary pheochromocytoma-paraganglioma [RCV000700336]|Paragangliomas 2 [RCV003475930]|not provided [RCV002509360] Chr11:61438073 [GRCh38]
Chr11:61205545 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*653A>G single nucleotide variant Pheochromocytoma [RCV000260795] Chr11:61446724 [GRCh38]
Chr11:61214196 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*415A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000358704] Chr11:61446486 [GRCh38]
Chr11:61213958 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.*76C>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000408072] Chr11:61446147 [GRCh38]
Chr11:61213619 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.*446C>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000266503] Chr11:61446517 [GRCh38]
Chr11:61213989 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.3(SDHAF2):c.*669A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000318229] Chr11:61446740 [GRCh38]
Chr11:61214212 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*377T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000364678] Chr11:61446448 [GRCh38]
Chr11:61213920 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.370+12G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002056210]|Pheochromocytoma [RCV000336073] Chr11:61438125 [GRCh38]
Chr11:61205597 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.*233C>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000307579] Chr11:61446304 [GRCh38]
Chr11:61213776 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*172del deletion Pheochromocytoma [RCV000408068] Chr11:61446242 [GRCh38]
Chr11:61213714 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*170C>A single nucleotide variant Pheochromocytoma [RCV000352611] Chr11:61446241 [GRCh38]
Chr11:61213713 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*627G>T single nucleotide variant Pheochromocytoma [RCV000353316] Chr11:61446698 [GRCh38]
Chr11:61214170 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*389C>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000301552] Chr11:61446460 [GRCh38]
Chr11:61213932 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*113C>A single nucleotide variant Pheochromocytoma [RCV000314128] Chr11:61446184 [GRCh38]
Chr11:61213656 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.37-7A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000554870] Chr11:61437618 [GRCh38]
Chr11:61205090 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.496C>T (p.Arg166Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567136]|Hereditary pheochromocytoma-paraganglioma [RCV000532954] Chr11:61446066 [GRCh38]
Chr11:61213538 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.133A>G (p.Lys45Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386043]|Hereditary pheochromocytoma-paraganglioma [RCV000639338]|not provided [RCV003223661] Chr11:61437721 [GRCh38]
Chr11:61205193 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.458T>C (p.Leu153Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000639342] Chr11:61446028 [GRCh38]
Chr11:61213500 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.80G>A (p.Ser27Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027179]|Hereditary pheochromocytoma-paraganglioma [RCV000639347]|not provided [RCV002222569] Chr11:61437668 [GRCh38]
Chr11:61205140 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358808]|Hereditary pheochromocytoma-paraganglioma [RCV000639348]|Paragangliomas 2 [RCV003472008] Chr11:61445961 [GRCh38]
Chr11:61213433 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.370G>A (p.Glu124Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567848]|Hereditary pheochromocytoma-paraganglioma [RCV001066455] Chr11:61438113 [GRCh38]
Chr11:61205585 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.37A>T (p.Met13Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573855]|Hereditary pheochromocytoma-paraganglioma [RCV000689080] Chr11:61437625 [GRCh38]
Chr11:61205097 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.383C>T (p.Ala128Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004659093]|Hereditary pheochromocytoma-paraganglioma [RCV000533177]|not provided [RCV003319370] Chr11:61445953 [GRCh38]
Chr11:61213425 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168658]|Hereditary pheochromocytoma-paraganglioma [RCV000704185]|Paragangliomas 2 [RCV003495130]|not provided [RCV000421747]|not specified [RCV000611145] Chr11:61437753 [GRCh38]
Chr11:61205225 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.-1A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000492746]|Hereditary pheochromocytoma-paraganglioma [RCV004000570]|not provided [RCV003153571] Chr11:61430146 [GRCh38]
Chr11:61197618 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.21C>T (p.Phe7=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014772]|Hereditary pheochromocytoma-paraganglioma [RCV000461014] Chr11:61430167 [GRCh38]
Chr11:61197639 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.460C>T (p.Arg154Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022775]|Hereditary pheochromocytoma-paraganglioma [RCV000463394]|not provided [RCV002291638] Chr11:61446030 [GRCh38]
Chr11:61213502 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.261-9del deletion Hereditary pheochromocytoma-paraganglioma [RCV001418347] Chr11:61437994 [GRCh38]
Chr11:61205466 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.430G>A (p.Ala144Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000576139]|Hereditary pheochromocytoma-paraganglioma [RCV000471205]|not provided [RCV003128945] Chr11:61446000 [GRCh38]
Chr11:61213472 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.319C>T (p.Arg107Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561135]|Hereditary pheochromocytoma-paraganglioma [RCV000467831]|SDHAF2-related disorder [RCV003942571]|not specified [RCV000732063] Chr11:61438062 [GRCh38]
Chr11:61205534 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.371-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566130]|Hereditary pheochromocytoma-paraganglioma [RCV000467864]|Paragangliomas 2 [RCV003476104] Chr11:61445939 [GRCh38]
Chr11:61213411 [GRCh37]
Chr11:11q12.2		 likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.15A>G (p.Thr5=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563732]|Hereditary pheochromocytoma-paraganglioma [RCV000475629]|not provided [RCV003478040] Chr11:61430161 [GRCh38]
Chr11:61197633 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.446_447del (p.Lys149fs) deletion Hereditary cancer-predisposing syndrome [RCV001022516]|Hereditary pheochromocytoma-paraganglioma [RCV000822300]|not provided [RCV002480336]|not specified [RCV000455263] Chr11:61446015..61446016 [GRCh38]
Chr11:61213487..61213488 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.363G>A (p.Trp121Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168716]|Hereditary pheochromocytoma-paraganglioma [RCV001856800]|not specified [RCV000455277] Chr11:61438106 [GRCh38]
Chr11:61205578 [GRCh37]
Chr11:11q12.2		 pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.157C>T (p.Pro53Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012279]|Hereditary pheochromocytoma-paraganglioma [RCV000460874] Chr11:61437745 [GRCh38]
Chr11:61205217 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568244]|Hereditary pheochromocytoma-paraganglioma [RCV000476593]|SDHAF2-related disorder [RCV003899933]|not provided [RCV000483780] Chr11:61430153 [GRCh38]
Chr11:61197625 [GRCh37]
Chr11:11q12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_017841.4(SDHAF2):c.13A>G (p.Thr5Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572947]|Hereditary pheochromocytoma-paraganglioma [RCV000457612]|not provided [RCV000728259] Chr11:61430159 [GRCh38]
Chr11:61197631 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573339]|Hereditary pheochromocytoma-paraganglioma [RCV000472498]|Paragangliomas 2 [RCV003476103] Chr11:61437809 [GRCh38]
Chr11:61205281 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019980]|Hereditary pheochromocytoma-paraganglioma [RCV000461728]|Paragangliomas 2 [RCV003476105]|SDHAF2-related disorder [RCV003960039]|not provided [RCV003477988] Chr11:61438074 [GRCh38]
Chr11:61205546 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.385C>T (p.Pro129Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002365662]|Hereditary pheochromocytoma-paraganglioma [RCV000461982] Chr11:61445955 [GRCh38]
Chr11:61213427 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) duplication Hereditary cancer-predisposing syndrome [RCV002451059]|Hereditary pheochromocytoma-paraganglioma [RCV000639340]|Paragangliomas 2 [RCV003476021]|SDHAF2-related disorder [RCV003960019]|not provided [RCV003884543]|not specified [RCV000456060] Chr11:61438095..61438096 [GRCh38]
Chr11:61205567..61205568 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.294A>G (p.Thr98=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436517]|Hereditary pheochromocytoma-paraganglioma [RCV000469562] Chr11:61438037 [GRCh38]
Chr11:61205509 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574855]|Hereditary pheochromocytoma-paraganglioma [RCV000477172]|Paragangliomas 2 [RCV002291637]|not provided [RCV003148750] Chr11:61446046 [GRCh38]
Chr11:61213518 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.2T>C (p.Met1Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017953]|Hereditary pheochromocytoma-paraganglioma [RCV000469697] Chr11:61430148 [GRCh38]
Chr11:61197620 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_017841.4(SDHAF2):c.24G>T (p.Ser8=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001412323] Chr11:61430170 [GRCh38]
Chr11:61197642 [GRCh37]
Chr11:11q12.2		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_017841.4(SDHAF2):c.109G>T (p.Gly37Cys) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000533916] Chr11:61437697 [GRCh38]
Chr11:61205169 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.360C>T (p.Tyr120=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570546]|Hereditary pheochromocytoma-paraganglioma [RCV000868792]|not provided [RCV003478298] Chr11:61438103 [GRCh38]
Chr11:61205575 [GRCh37]
Chr11:11q12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017841.4(SDHAF2):c.500G>A (p.Ter167=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301603] Chr11:61446070 [GRCh38]
Chr11:61213542 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.366C>T (p.Ala122=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301604] Chr11:61438109 [GRCh38]
Chr11:61205581 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.260+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571706]|Hereditary pheochromocytoma-paraganglioma [RCV001035689]|Paragangliomas 2 [RCV003471908] Chr11:61437851 [GRCh38]
Chr11:61205323 [GRCh37]
Chr11:11q12.2		 likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.264T>G (p.Leu88=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000541476] Chr11:61438007 [GRCh38]
Chr11:61205479 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.370+8G>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000560156] Chr11:61438121 [GRCh38]
Chr11:61205593 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.248G>T (p.Cys83Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015684]|Hereditary pheochromocytoma-paraganglioma [RCV000541679] Chr11:61437836 [GRCh38]
Chr11:61205308 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.6G>T (p.Ala2=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561924]|Hereditary pheochromocytoma-paraganglioma [RCV000944974] Chr11:61430152 [GRCh38]
Chr11:61197624 [GRCh37]
Chr11:11q12.2		 likely benign|conflicting interpretations of pathogenicity
NM_017841.4(SDHAF2):c.153T>G (p.Pro51=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567514]|Hereditary pheochromocytoma-paraganglioma [RCV000935254] Chr11:61437741 [GRCh38]
Chr11:61205213 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.43G>T (p.Ala15Ser) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000639333] Chr11:61437631 [GRCh38]
Chr11:61205103 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) insertion Hereditary cancer-predisposing syndrome [RCV001018326]|Hereditary pheochromocytoma-paraganglioma [RCV000639336]|Paragangliomas 2 [RCV003472006]|not provided [RCV001766368] Chr11:61438048..61438049 [GRCh38]
Chr11:61205520..61205521 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.465C>T (p.Ala155=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330868]|Hereditary pheochromocytoma-paraganglioma [RCV000559200]|not provided [RCV002461297] Chr11:61446035 [GRCh38]
Chr11:61213507 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.-11A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004002503]|not specified [RCV000612300] Chr11:61430136 [GRCh38]
Chr11:61197608 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.2(SDHAF2):c.-50G>T single nucleotide variant not specified [RCV000601347] Chr11:61430097 [GRCh38]
Chr11:61197569 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386044]|Hereditary pheochromocytoma-paraganglioma [RCV000639349]|not provided [RCV001579475] Chr11:61437686 [GRCh38]
Chr11:61205158 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.453G>A (p.Gln151=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000639375] Chr11:61446023 [GRCh38]
Chr11:61213495 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323960]|Hereditary pheochromocytoma-paraganglioma [RCV000556172]|Paragangliomas 2 [RCV003476259] Chr11:61438056 [GRCh38]
Chr11:61205528 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.7G>A (p.Val3Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572705] Chr11:61430153 [GRCh38]
Chr11:61197625 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.414C>T (p.Ala138=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572055]|Hereditary pheochromocytoma-paraganglioma [RCV001444783]|SDHAF2-related disorder [RCV003900285] Chr11:61445984 [GRCh38]
Chr11:61213456 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.218A>C (p.Glu73Ala) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000639351] Chr11:61437806 [GRCh38]
Chr11:61205278 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.138C>G (p.Asp46Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303021]|Hereditary pheochromocytoma-paraganglioma [RCV000639354] Chr11:61437726 [GRCh38]
Chr11:61205198 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.327T>A (p.Ile109=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380654]|Hereditary pheochromocytoma-paraganglioma [RCV000639363] Chr11:61438070 [GRCh38]
Chr11:61205542 [GRCh37]
Chr11:11q12.2		 likely benign
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3 copy number gain not provided [RCV000683362] Chr11:58935215..62177656 [GRCh37]
Chr11:11q12.1-12.3		 likely pathogenic
NM_017841.4(SDHAF2):c.415C>A (p.Leu139Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004026537]|Hereditary pheochromocytoma-paraganglioma [RCV000701053] Chr11:61445985 [GRCh38]
Chr11:61213457 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.370+6G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000703901]|not provided [RCV002473123]|not specified [RCV003994090] Chr11:61438119 [GRCh38]
Chr11:61205591 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.194C>T (p.Thr65Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013718]|Hereditary pheochromocytoma-paraganglioma [RCV000698562]|Paragangliomas 2 [RCV004569351]|not provided [RCV003238188] Chr11:61437782 [GRCh38]
Chr11:61205254 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004026400]|Hereditary pheochromocytoma-paraganglioma [RCV000697271]|Ovarian cancer [RCV003153814]|Paragangliomas 2 [RCV003472224] Chr11:61438084 [GRCh38]
Chr11:61205556 [GRCh37]
Chr11:11q12.2		 benign|uncertain significance
NM_017841.4(SDHAF2):c.60C>A (p.Ser20Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000692739] Chr11:61437648 [GRCh38]
Chr11:61205120 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.106A>G (p.Arg36Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017188]|Hereditary pheochromocytoma-paraganglioma [RCV000700909] Chr11:61437694 [GRCh38]
Chr11:61205166 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.370+160C>T single nucleotide variant not provided [RCV001567633] Chr11:61438273 [GRCh38]
Chr11:61205745 [GRCh37]
Chr11:11q12.2		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_017841.4(SDHAF2):c.260+10T>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001477781] Chr11:61437858 [GRCh38]
Chr11:61205330 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.208C>G (p.Leu70Val) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001066406] Chr11:61437796 [GRCh38]
Chr11:61205268 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+284C>T single nucleotide variant not provided [RCV001568764] Chr11:61430466 [GRCh38]
Chr11:61197938 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427164]|Hereditary pheochromocytoma-paraganglioma [RCV000869314]|Paragangliomas 2 [RCV003495193]|SDHAF2-related disorder [RCV003920379]|not provided [RCV003389840] Chr11:61438012 [GRCh38]
Chr11:61205484 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.260+10T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000927043] Chr11:61437858 [GRCh38]
Chr11:61205330 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.309C>T (p.Asn103=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018610]|Hereditary pheochromocytoma-paraganglioma [RCV000876922] Chr11:61438052 [GRCh38]
Chr11:61205524 [GRCh37]
Chr11:11q12.2		 benign|likely benign
NM_017841.4(SDHAF2):c.354T>C (p.Ile118=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020581]|Hereditary pheochromocytoma-paraganglioma [RCV001450688] Chr11:61438097 [GRCh38]
Chr11:61205569 [GRCh37]
Chr11:11q12.2		 likely benign
NC_000011.10:g.(?_61437615)_(61446071_?)dup duplication Hereditary pheochromocytoma-paraganglioma [RCV001032994] Chr11:61205087..61213543 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.446A>G (p.Lys149Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001061609] Chr11:61446016 [GRCh38]
Chr11:61213488 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.103T>C (p.Tyr35His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391124]|Hereditary pheochromocytoma-paraganglioma [RCV001042027]|not provided [RCV003478672] Chr11:61437691 [GRCh38]
Chr11:61205163 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.101T>C (p.Phe34Ser) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001059233] Chr11:61437689 [GRCh38]
Chr11:61205161 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.446A>C (p.Lys149Thr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001051157] Chr11:61446016 [GRCh38]
Chr11:61213488 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.100T>C (p.Phe34Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434440]|Hereditary pheochromocytoma-paraganglioma [RCV001037693] Chr11:61437688 [GRCh38]
Chr11:61205160 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.473T>C (p.Leu158Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001037417] Chr11:61446043 [GRCh38]
Chr11:61213515 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380735]|Hereditary pheochromocytoma-paraganglioma [RCV000807160]|Paragangliomas 2 [RCV003472392] Chr11:61445980 [GRCh38]
Chr11:61213452 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.370+4C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004027427]|Hereditary pheochromocytoma-paraganglioma [RCV000792882]|Paragangliomas 2 [RCV002487647] Chr11:61438117 [GRCh38]
Chr11:61205589 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.51A>G (p.Ser17=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002545902] Chr11:61437639 [GRCh38]
Chr11:61205111 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.288C>T (p.His96=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001472924] Chr11:61438031 [GRCh38]
Chr11:61205503 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.387A>G (p.Pro129=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021339]|Hereditary pheochromocytoma-paraganglioma [RCV000869077] Chr11:61445957 [GRCh38]
Chr11:61213429 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.420G>C (p.Leu140=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332842]|Hereditary pheochromocytoma-paraganglioma [RCV001466195] Chr11:61445990 [GRCh38]
Chr11:61213462 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.449A>G (p.Glu150Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022579]|Hereditary pheochromocytoma-paraganglioma [RCV000822428] Chr11:61446019 [GRCh38]
Chr11:61213491 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.136G>A (p.Asp46Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372864]|Hereditary pheochromocytoma-paraganglioma [RCV000809871] Chr11:61437724 [GRCh38]
Chr11:61205196 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.427T>A (p.Phe143Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256552]|Hereditary pheochromocytoma-paraganglioma [RCV000823216] Chr11:61445997 [GRCh38]
Chr11:61213469 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.314A>G (p.Tyr105Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018813]|Hereditary pheochromocytoma-paraganglioma [RCV000804806]|not provided [RCV003327464] Chr11:61438057 [GRCh38]
Chr11:61205529 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.145_147del (p.Glu49del) deletion Hereditary cancer-predisposing syndrome [RCV002390713]|Hereditary pheochromocytoma-paraganglioma [RCV000824040]|Paragangliomas 2 [RCV004569785]|not provided [RCV003442118]|not specified [RCV001816911] Chr11:61437733..61437735 [GRCh38]
Chr11:61205205..61205207 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.35T>C (p.Leu12Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453904]|Hereditary pheochromocytoma-paraganglioma [RCV000824143] Chr11:61430181 [GRCh38]
Chr11:61197653 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.253C>A (p.Leu85Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015874]|Hereditary pheochromocytoma-paraganglioma [RCV000801704] Chr11:61437841 [GRCh38]
Chr11:61205313 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.261-2A>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000818208] Chr11:61438002 [GRCh38]
Chr11:61205474 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_017841.4(SDHAF2):c.130_132del (p.Gln44del) deletion Hereditary pheochromocytoma-paraganglioma [RCV000816857] Chr11:61437718..61437720 [GRCh38]
Chr11:61205190..61205192 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.98G>T (p.Arg33Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019878]|Hereditary pheochromocytoma-paraganglioma [RCV000800389] Chr11:61437686 [GRCh38]
Chr11:61205158 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.350A>T (p.Asp117Val) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000792242] Chr11:61438093 [GRCh38]
Chr11:61205565 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.348G>C (p.Trp116Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458437]|Hereditary pheochromocytoma-paraganglioma [RCV000796987] Chr11:61438091 [GRCh38]
Chr11:61205563 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.327T>G (p.Ile109Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442711]|Hereditary pheochromocytoma-paraganglioma [RCV000809492] Chr11:61438070 [GRCh38]
Chr11:61205542 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+5G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000811932] Chr11:61430187 [GRCh38]
Chr11:61197659 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.29C>T (p.Ser10Leu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000808682]|Paragangliomas 2 [RCV004569651] Chr11:61430175 [GRCh38]
Chr11:61197647 [GRCh37]
Chr11:11q12.2		 uncertain significance
NC_000011.9:g.(?_61205087)_(61213553_?)dup duplication Hereditary pheochromocytoma-paraganglioma [RCV000792161] Chr11:61437615..61446081 [GRCh38]
Chr11:61205087..61213553 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010273]|Hereditary pheochromocytoma-paraganglioma [RCV000801877]|Paragangliomas 2 [RCV003472368] Chr11:61430157 [GRCh38]
Chr11:61197629 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.457C>T (p.Leu153=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022732] Chr11:61446027 [GRCh38]
Chr11:61213499 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.350A>G (p.Asp117Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020482]|Hereditary pheochromocytoma-paraganglioma [RCV001245142] Chr11:61438093 [GRCh38]
Chr11:61205565 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3 copy number gain not provided [RCV000848682] Chr11:60499486..61529578 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.126T>C (p.Asp42=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001486247] Chr11:61437714 [GRCh38]
Chr11:61205186 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.46C>G (p.Leu16Val) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001228955] Chr11:61437634 [GRCh38]
Chr11:61205106 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.443del (p.Asn148fs) deletion Hereditary cancer-predisposing syndrome [RCV001022481]|Hereditary pheochromocytoma-paraganglioma [RCV001238072] Chr11:61446009 [GRCh38]
Chr11:61213481 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.46C>T (p.Leu16=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022922]|Hereditary pheochromocytoma-paraganglioma [RCV002550006] Chr11:61437634 [GRCh38]
Chr11:61205106 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020532]|Hereditary pheochromocytoma-paraganglioma [RCV001067015]|Paragangliomas 2 [RCV001253131] Chr11:61438095 [GRCh38]
Chr11:61205567 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.409A>T (p.Met137Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021857] Chr11:61445979 [GRCh38]
Chr11:61213451 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.334C>A (p.Pro112Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307921]|Hereditary pheochromocytoma-paraganglioma [RCV001068480] Chr11:61438077 [GRCh38]
Chr11:61205549 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.37-1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346199]|Hereditary pheochromocytoma-paraganglioma [RCV001238114]|Paragangliomas 2 [RCV001784526]|not provided [RCV000994638] Chr11:61437624 [GRCh38]
Chr11:61205096 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic
NM_017841.4(SDHAF2):c.406G>A (p.Val136Ile) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001209105] Chr11:61445976 [GRCh38]
Chr11:61213448 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.8T>C (p.Val3Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375198]|Hereditary pheochromocytoma-paraganglioma [RCV001219732] Chr11:61430154 [GRCh38]
Chr11:61197626 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.121A>G (p.Thr41Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294012]|Hereditary pheochromocytoma-paraganglioma [RCV001208813] Chr11:61437709 [GRCh38]
Chr11:61205181 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.14C>T (p.Thr5Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393592]|Hereditary pheochromocytoma-paraganglioma [RCV001234560] Chr11:61430160 [GRCh38]
Chr11:61197632 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.83T>G (p.Val28Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003373056]|Hereditary pheochromocytoma-paraganglioma [RCV001225041] Chr11:61437671 [GRCh38]
Chr11:61205143 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.222C>G (p.Ser74Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001209912] Chr11:61437810 [GRCh38]
Chr11:61205282 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.370+2T>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001221687] Chr11:61438115 [GRCh38]
Chr11:61205587 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.215A>G (p.Tyr72Cys) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001224431] Chr11:61437803 [GRCh38]
Chr11:61205275 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*479A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001105031] Chr11:61446550 [GRCh38]
Chr11:61214022 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.2(SDHAF2):c.-29G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001106094] Chr11:61430118 [GRCh38]
Chr11:61197590 [GRCh37]
Chr11:11q12.2		 uncertain significance
NC_000011.9:g.(?_61165722)_(61197674_?)dup duplication Familial aplasia of the vermis [RCV003105620] Chr11:61165722..61197674 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.130C>T (p.Gln44Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004039468]|Hereditary pheochromocytoma-paraganglioma [RCV001866107]|not provided [RCV001581492] Chr11:61437718 [GRCh38]
Chr11:61205190 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic
NM_017841.4(SDHAF2):c.370+7G>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV000981282] Chr11:61438120 [GRCh38]
Chr11:61205592 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.321C>T (p.Arg107=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445109]|Hereditary pheochromocytoma-paraganglioma [RCV000954816] Chr11:61438064 [GRCh38]
Chr11:61205536 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.324G>T (p.Leu108=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320118]|Hereditary pheochromocytoma-paraganglioma [RCV001499761] Chr11:61438067 [GRCh38]
Chr11:61205539 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.18G>A (p.Val6=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013612]|Hereditary pheochromocytoma-paraganglioma [RCV001452385] Chr11:61430164 [GRCh38]
Chr11:61197636 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163731]|Hereditary pheochromocytoma-paraganglioma [RCV001223024]|Paragangliomas 2 [RCV003473778] Chr11:61437684 [GRCh38]
Chr11:61205156 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.451C>T (p.Gln151Ter) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001245020] Chr11:61446021 [GRCh38]
Chr11:61213493 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.3G>A (p.Met1Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375214]|Hereditary pheochromocytoma-paraganglioma [RCV001223536] Chr11:61430149 [GRCh38]
Chr11:61197621 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.274G>A (p.Glu92Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166543]|Hereditary pheochromocytoma-paraganglioma [RCV001245636] Chr11:61438017 [GRCh38]
Chr11:61205489 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*284C>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001103121] Chr11:61446355 [GRCh38]
Chr11:61213827 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.37A>G (p.Met13Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004032619]|Hereditary pheochromocytoma-paraganglioma [RCV001227902] Chr11:61437625 [GRCh38]
Chr11:61205097 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.312C>A (p.Leu104=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320120]|Hereditary pheochromocytoma-paraganglioma [RCV001428314] Chr11:61438055 [GRCh38]
Chr11:61205527 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.370+103dup duplication not provided [RCV001688934] Chr11:61438204..61438205 [GRCh38]
Chr11:61205676..61205677 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.461G>A (p.Arg154His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022798]|Hereditary pheochromocytoma-paraganglioma [RCV001058957] Chr11:61446031 [GRCh38]
Chr11:61213503 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.175A>G (p.Thr59Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012996]|Hereditary pheochromocytoma-paraganglioma [RCV001325686] Chr11:61437763 [GRCh38]
Chr11:61205235 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*657A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001105032] Chr11:61446728 [GRCh38]
Chr11:61214200 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.*661A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001105033] Chr11:61446732 [GRCh38]
Chr11:61214204 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015230]|Hereditary pheochromocytoma-paraganglioma [RCV003633552] Chr11:61437821 [GRCh38]
Chr11:61205293 [GRCh37]
Chr11:11q12.2		 likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015284]|Hereditary pheochromocytoma-paraganglioma [RCV001211466]|Paragangliomas 2 [RCV003473576] Chr11:61437823 [GRCh38]
Chr11:61205295 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.246C>G (p.Asn82Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015457]|Hereditary pheochromocytoma-paraganglioma [RCV001219841] Chr11:61437834 [GRCh38]
Chr11:61205306 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.277C>G (p.His93Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016580]|Hereditary pheochromocytoma-paraganglioma [RCV004004558] Chr11:61438020 [GRCh38]
Chr11:61205492 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.289A>G (p.Met97Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016846]|Hereditary pheochromocytoma-paraganglioma [RCV001309477] Chr11:61438032 [GRCh38]
Chr11:61205504 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.100T>G (p.Phe34Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016986]|Hereditary pheochromocytoma-paraganglioma [RCV001320391] Chr11:61437688 [GRCh38]
Chr11:61205160 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.-5G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024790] Chr11:61430142 [GRCh38]
Chr11:61197614 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.83T>A (p.Val28Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017709]|Hereditary pheochromocytoma-paraganglioma [RCV001873301] Chr11:61437671 [GRCh38]
Chr11:61205143 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018870]|Hereditary pheochromocytoma-paraganglioma [RCV001385114]|Paragangliomas 2 [RCV003495225]|not provided [RCV002511016] Chr11:61438058 [GRCh38]
Chr11:61205530 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic
NM_017841.4(SDHAF2):c.206G>T (p.Arg69Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004031534]|Hereditary pheochromocytoma-paraganglioma [RCV001049038] Chr11:61437794 [GRCh38]
Chr11:61205266 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3 copy number gain not provided [RCV001006412] Chr11:60385382..62456278 [GRCh37]
Chr11:11q12.2-12.3		 uncertain significance
NM_017841.4(SDHAF2):c.436AACAAA[1] (p.146NK[1]) microsatellite Hereditary pheochromocytoma-paraganglioma [RCV001206206] Chr11:61446003..61446008 [GRCh38]
Chr11:61213475..61213480 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.190G>A (p.Glu64Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409398]|Hereditary pheochromocytoma-paraganglioma [RCV001042094] Chr11:61437778 [GRCh38]
Chr11:61205250 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.337A>G (p.Ser113Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451564]|Hereditary pheochromocytoma-paraganglioma [RCV001235001] Chr11:61438080 [GRCh38]
Chr11:61205552 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.146A>G (p.Glu49Gly) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001053733]|not provided [RCV001772266] Chr11:61437734 [GRCh38]
Chr11:61205206 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.17T>C (p.Val6Ala) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001236138] Chr11:61430163 [GRCh38]
Chr11:61197635 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.169G>A (p.Glu57Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004033882]|Hereditary pheochromocytoma-paraganglioma [RCV001213276] Chr11:61437757 [GRCh38]
Chr11:61205229 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.*476C>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001105030]|not provided [RCV004693626] Chr11:61446547 [GRCh38]
Chr11:61214019 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.279T>G (p.His93Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436840]|Hereditary pheochromocytoma-paraganglioma [RCV001218399] Chr11:61438022 [GRCh38]
Chr11:61205494 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.487G>C (p.Glu163Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023194] Chr11:61446057 [GRCh38]
Chr11:61213529 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.201_205dup (p.Arg69fs) duplication Hereditary cancer-predisposing syndrome [RCV001014030] Chr11:61437788..61437789 [GRCh38]
Chr11:61205260..61205261 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.43G>C (p.Ala15Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004030541]|Hereditary pheochromocytoma-paraganglioma [RCV001064541] Chr11:61437631 [GRCh38]
Chr11:61205103 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.230G>C (p.Arg77Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015135]|Hereditary pheochromocytoma-paraganglioma [RCV001873261] Chr11:61437818 [GRCh38]
Chr11:61205290 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.199del (p.Arg67fs) deletion Hereditary cancer-predisposing syndrome [RCV003380802]|Hereditary pheochromocytoma-paraganglioma [RCV001036494]|not provided [RCV003151828] Chr11:61437784 [GRCh38]
Chr11:61205256 [GRCh37]
Chr11:11q12.2		 pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.23C>A (p.Ser8Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015411]|Hereditary pheochromocytoma-paraganglioma [RCV002549418] Chr11:61430169 [GRCh38]
Chr11:61197641 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.444_447del (p.Asn148fs) deletion Hereditary cancer-predisposing syndrome [RCV003163622]|Hereditary pheochromocytoma-paraganglioma [RCV001213191] Chr11:61446011..61446014 [GRCh38]
Chr11:61213483..61213486 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.259A>C (p.Ser87Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016057] Chr11:61437847 [GRCh38]
Chr11:61205319 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.459G>C (p.Leu153=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022763]|Hereditary pheochromocytoma-paraganglioma [RCV001432444] Chr11:61446029 [GRCh38]
Chr11:61213501 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.265T>C (p.Phe89Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429860]|Hereditary pheochromocytoma-paraganglioma [RCV001202572] Chr11:61438008 [GRCh38]
Chr11:61205480 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.410T>G (p.Met137Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001233653] Chr11:61445980 [GRCh38]
Chr11:61213452 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.143T>C (p.Ile48Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011590] Chr11:61437731 [GRCh38]
Chr11:61205203 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.29del (p.Ser10fs) deletion Hereditary cancer-predisposing syndrome [RCV001017895]|Hereditary pheochromocytoma-paraganglioma [RCV002551804] Chr11:61430175 [GRCh38]
Chr11:61197647 [GRCh37]
Chr11:11q12.2		 pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.37-176G>A single nucleotide variant not provided [RCV001565144] Chr11:61437449 [GRCh38]
Chr11:61204921 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.370+2T>C single nucleotide variant not specified [RCV001264453] Chr11:61438115 [GRCh38]
Chr11:61205587 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs) microsatellite Hereditary cancer-predisposing syndrome [RCV004659450]|Paragangliomas 2 [RCV001262451] Chr11:61437626..61437629 [GRCh38]
Chr11:61205098..61205101 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_017841.4(SDHAF2):c.466C>T (p.Pro156Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294345]|Hereditary pheochromocytoma-paraganglioma [RCV001341936] Chr11:61446036 [GRCh38]
Chr11:61213508 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.181G>A (p.Glu61Lys) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001300140] Chr11:61437769 [GRCh38]
Chr11:61205241 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.53G>A (p.Arg18Lys) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001342533] Chr11:61437641 [GRCh38]
Chr11:61205113 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.37-8del deletion Hereditary pheochromocytoma-paraganglioma [RCV001313561] Chr11:61437617 [GRCh38]
Chr11:61205089 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.157C>A (p.Pro53Thr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001300202] Chr11:61437745 [GRCh38]
Chr11:61205217 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+6GA[2] microsatellite Hereditary pheochromocytoma-paraganglioma [RCV001392150] Chr11:61430188..61430191 [GRCh38]
Chr11:61197660..61197663 [GRCh37]
Chr11:11q12.2		 likely benign
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3		 uncertain significance
NM_017841.4(SDHAF2):c.318C>A (p.Asp106Glu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001307690] Chr11:61438061 [GRCh38]
Chr11:61205533 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.75G>A (p.Leu25=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001392393] Chr11:61437663 [GRCh38]
Chr11:61205135 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.370+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004036594]|Hereditary pheochromocytoma-paraganglioma [RCV001349765]|Paragangliomas 2 [RCV004570852] Chr11:61438116 [GRCh38]
Chr11:61205588 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.478T>C (p.Tyr160His) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001371805] Chr11:61446048 [GRCh38]
Chr11:61213520 [GRCh37]
Chr11:11q12.2		 uncertain significance
NC_000011.9:g.(?_61197619)_(61213543_?)dup duplication Hereditary pheochromocytoma-paraganglioma [RCV001323792] Chr11:61197619..61213543 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.151C>T (p.Pro51Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004671336]|Hereditary pheochromocytoma-paraganglioma [RCV001318585] Chr11:61437739 [GRCh38]
Chr11:61205211 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.362G>A (p.Trp121Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456517]|Hereditary pheochromocytoma-paraganglioma [RCV001349165] Chr11:61438105 [GRCh38]
Chr11:61205577 [GRCh37]
Chr11:11q12.2		 pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.240G>C (p.Leu80Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004037079]|Hereditary pheochromocytoma-paraganglioma [RCV001369471] Chr11:61437828 [GRCh38]
Chr11:61205300 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.238T>G (p.Leu80Val) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001364489] Chr11:61437826 [GRCh38]
Chr11:61205298 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.28T>A (p.Ser10Thr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001351066] Chr11:61430174 [GRCh38]
Chr11:61197646 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.456A>G (p.Arg152=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341843]|Hereditary pheochromocytoma-paraganglioma [RCV001394623] Chr11:61446026 [GRCh38]
Chr11:61213498 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.448G>A (p.Glu150Lys) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001316414] Chr11:61446018 [GRCh38]
Chr11:61213490 [GRCh37]
Chr11:11q12.2		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_017841.4(SDHAF2):c.405A>C (p.Glu135Asp) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001327520] Chr11:61445975 [GRCh38]
Chr11:61213447 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.451C>G (p.Gln151Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341778]|Hereditary pheochromocytoma-paraganglioma [RCV001365908]|Paragangliomas 2 [RCV004570891] Chr11:61446021 [GRCh38]
Chr11:61213493 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.421A>C (p.Arg141=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329555]|Hereditary pheochromocytoma-paraganglioma [RCV001468302] Chr11:61445991 [GRCh38]
Chr11:61213463 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.234A>G (p.Gly78=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001470363] Chr11:61437822 [GRCh38]
Chr11:61205294 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.198A>G (p.Lys66=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420891]|Hereditary pheochromocytoma-paraganglioma [RCV001399630] Chr11:61437786 [GRCh38]
Chr11:61205258 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.371-10T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001461934] Chr11:61445931 [GRCh38]
Chr11:61213403 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.370+10A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001472007] Chr11:61438123 [GRCh38]
Chr11:61205595 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.207C>T (p.Arg69=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420883]|Hereditary pheochromocytoma-paraganglioma [RCV001397905]|not provided [RCV003394032] Chr11:61437795 [GRCh38]
Chr11:61205267 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.37-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357285]|Hereditary pheochromocytoma-paraganglioma [RCV001379490] Chr11:61437623 [GRCh38]
Chr11:61205095 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic
NM_017841.4(SDHAF2):c.324G>A (p.Leu108=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322499]|Hereditary pheochromocytoma-paraganglioma [RCV001456813] Chr11:61438067 [GRCh38]
Chr11:61205539 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.371-7C>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001474748] Chr11:61445934 [GRCh38]
Chr11:61213406 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.138C>T (p.Asp46=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396066]|Hereditary pheochromocytoma-paraganglioma [RCV001456493] Chr11:61437726 [GRCh38]
Chr11:61205198 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.124del (p.Asp42fs) deletion Hereditary pheochromocytoma-paraganglioma [RCV001381014] Chr11:61437712 [GRCh38]
Chr11:61205184 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.222C>T (p.Ser74=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001446312] Chr11:61437810 [GRCh38]
Chr11:61205282 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.228G>A (p.Lys76=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001446281] Chr11:61437816 [GRCh38]
Chr11:61205288 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.12T>A (p.Ser4=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001449088] Chr11:61430158 [GRCh38]
Chr11:61197630 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.260+2T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001379058] Chr11:61437850 [GRCh38]
Chr11:61205322 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_017841.4(SDHAF2):c.483C>G (p.Leu161=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341949]|Hereditary pheochromocytoma-paraganglioma [RCV001434450] Chr11:61446053 [GRCh38]
Chr11:61213525 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.371-7C>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001429440] Chr11:61445934 [GRCh38]
Chr11:61213406 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.63A>T (p.Leu21=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001468541] Chr11:61437651 [GRCh38]
Chr11:61205123 [GRCh37]
Chr11:11q12.2		 likely benign
NC_000011.10:g.61429996del deletion not provided [RCV001675550] Chr11:61429989 [GRCh38]
Chr11:61197461 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.34C>T (p.Leu12=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001480191] Chr11:61430180 [GRCh38]
Chr11:61197652 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.99C>T (p.Arg33=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384794]|Hereditary pheochromocytoma-paraganglioma [RCV001486819] Chr11:61437687 [GRCh38]
Chr11:61205159 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.249C>T (p.Cys83=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169973]|Hereditary pheochromocytoma-paraganglioma [RCV001397855] Chr11:61437837 [GRCh38]
Chr11:61205309 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.375T>C (p.Ala125=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003382593]|Hereditary pheochromocytoma-paraganglioma [RCV001459215] Chr11:61445945 [GRCh38]
Chr11:61213417 [GRCh37]
Chr11:11q12.2		 likely benign
NC_000011.9:g.(?_61205087)_(61213543_?)del deletion Hereditary pheochromocytoma-paraganglioma [RCV001379209] Chr11:61205087..61213543 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic
NM_017841.4(SDHAF2):c.66G>A (p.Leu22=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004037252]|Hereditary pheochromocytoma-paraganglioma [RCV001485612] Chr11:61437654 [GRCh38]
Chr11:61205126 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.435A>G (p.Lys145=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003108673] Chr11:61446005 [GRCh38]
Chr11:61213477 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.298A>G (p.Lys100Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440891]|Hereditary pheochromocytoma-paraganglioma [RCV003772323]|not specified [RCV001820730] Chr11:61438041 [GRCh38]
Chr11:61205513 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.216T>A (p.Tyr72Ter) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001950745] Chr11:61437804 [GRCh38]
Chr11:61205276 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.23C>T (p.Ser8Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449511]|Hereditary pheochromocytoma-paraganglioma [RCV001874902] Chr11:61430169 [GRCh38]
Chr11:61197641 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.32C>G (p.Ser11Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458741]|Hereditary pheochromocytoma-paraganglioma [RCV001896081]|Paragangliomas 2 [RCV004571550] Chr11:61430178 [GRCh38]
Chr11:61197650 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.230G>A (p.Arg77Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004038803]|Hereditary pheochromocytoma-paraganglioma [RCV002044309] Chr11:61437818 [GRCh38]
Chr11:61205290 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.26C>T (p.Thr9Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441107]|Hereditary pheochromocytoma-paraganglioma [RCV001983169] Chr11:61430172 [GRCh38]
Chr11:61197644 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.187A>G (p.Ile63Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004041921]|Hereditary pheochromocytoma-paraganglioma [RCV001967394] Chr11:61437775 [GRCh38]
Chr11:61205247 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.401A>G (p.Asn134Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170186]|Hereditary pheochromocytoma-paraganglioma [RCV001965539] Chr11:61445971 [GRCh38]
Chr11:61213443 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423019]|Hereditary pheochromocytoma-paraganglioma [RCV001909973]|Paragangliomas 2 [RCV003475162]|not provided [RCV003318701] Chr11:61437784 [GRCh38]
Chr11:61205256 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.422G>A (p.Arg141Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331584]|Hereditary pheochromocytoma-paraganglioma [RCV001986670] Chr11:61445992 [GRCh38]
Chr11:61213464 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.436AACAAA[3] (p.146NK[3]) microsatellite Hereditary pheochromocytoma-paraganglioma [RCV002023290] Chr11:61446002..61446003 [GRCh38]
Chr11:61213474..61213475 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.40C>T (p.Leu14Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003382735]|Hereditary pheochromocytoma-paraganglioma [RCV001964778]|not provided [RCV004591643] Chr11:61437628 [GRCh38]
Chr11:61205100 [GRCh37]
Chr11:11q12.2		 uncertain significance
NC_000011.9:g.(?_61205087)_(61205595_?)del deletion Hereditary pheochromocytoma-paraganglioma [RCV002004614] Chr11:61205087..61205595 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+9A>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002006580] Chr11:61430191 [GRCh38]
Chr11:61197663 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334886]|Hereditary pheochromocytoma-paraganglioma [RCV001947703]|Paragangliomas 2 [RCV003475166] Chr11:61446024 [GRCh38]
Chr11:61213496 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.194C>G (p.Thr65Ser) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002001295]|Ovarian cancer [RCV003154231] Chr11:61437782 [GRCh38]
Chr11:61205254 [GRCh37]
Chr11:11q12.2		 benign|uncertain significance
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) microsatellite Hereditary pheochromocytoma-paraganglioma [RCV001999776]|Paragangliomas 2 [RCV003475212] Chr11:61437815..61437816 [GRCh38]
Chr11:61205287..61205288 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic
NM_017841.4(SDHAF2):c.208_210delinsAGT (p.Leu70Ser) indel Hereditary pheochromocytoma-paraganglioma [RCV001995906] Chr11:61437796..61437798 [GRCh38]
Chr11:61205268..61205270 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.79A>G (p.Ser27Gly) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001864919] Chr11:61437667 [GRCh38]
Chr11:61205139 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.267del (p.Phe89fs) deletion Hereditary cancer-predisposing syndrome [RCV002441101]|Hereditary pheochromocytoma-paraganglioma [RCV001993114]|Paragangliomas 2 [RCV004571698] Chr11:61438006 [GRCh38]
Chr11:61205478 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic
NM_017841.4(SDHAF2):c.82G>A (p.Val28Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004656710]|Hereditary pheochromocytoma-paraganglioma [RCV001898054] Chr11:61437670 [GRCh38]
Chr11:61205142 [GRCh37]
Chr11:11q12.2		 uncertain significance
NC_000011.9:g.(?_61197619)_(61205595_?)dup duplication Hereditary pheochromocytoma-paraganglioma [RCV001931388] Chr11:61197619..61205595 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.202G>A (p.Ala68Thr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001881796] Chr11:61437790 [GRCh38]
Chr11:61205262 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423263]|Hereditary pheochromocytoma-paraganglioma [RCV002026347]|Paragangliomas 2 [RCV003475291] Chr11:61437787 [GRCh38]
Chr11:61205259 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.116G>A (p.Ser39Asn) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001995955] Chr11:61437704 [GRCh38]
Chr11:61205176 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.28del (p.Ser10fs) deletion Hereditary cancer-predisposing syndrome [RCV003303494]|Hereditary pheochromocytoma-paraganglioma [RCV001993356]|Paragangliomas 2 [RCV003495260] Chr11:61430173 [GRCh38]
Chr11:61197645 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.152C>T (p.Pro51Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397880]|Hereditary pheochromocytoma-paraganglioma [RCV001901632]|not provided [RCV003478894] Chr11:61437740 [GRCh38]
Chr11:61205212 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.122C>G (p.Thr41Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001973967] Chr11:61437710 [GRCh38]
Chr11:61205182 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.271A>G (p.Lys91Glu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001980674] Chr11:61438014 [GRCh38]
Chr11:61205486 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.437A>G (p.Asn146Ser) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002035054]|Paragangliomas 2 [RCV004571424] Chr11:61446007 [GRCh38]
Chr11:61213479 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+6G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001916911] Chr11:61430188 [GRCh38]
Chr11:61197660 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.176C>T (p.Thr59Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397956]|Hereditary pheochromocytoma-paraganglioma [RCV001954991] Chr11:61437764 [GRCh38]
Chr11:61205236 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.382G>C (p.Ala128Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359335]|Hereditary pheochromocytoma-paraganglioma [RCV001902350]|Paragangliomas 2 [RCV004571480] Chr11:61445952 [GRCh38]
Chr11:61213424 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.301C>A (p.Gln101Lys) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001905648] Chr11:61438044 [GRCh38]
Chr11:61205516 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.276A>C (p.Glu92Asp) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001977442] Chr11:61438019 [GRCh38]
Chr11:61205491 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.469G>T (p.Asp157Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334785]|Hereditary pheochromocytoma-paraganglioma [RCV001900644]|not provided [RCV002307775] Chr11:61446039 [GRCh38]
Chr11:61213511 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.124G>A (p.Asp42Asn) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001977638] Chr11:61437712 [GRCh38]
Chr11:61205184 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.170A>G (p.Glu57Gly) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001881137] Chr11:61437758 [GRCh38]
Chr11:61205230 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.220A>G (p.Ser74Gly) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001932463] Chr11:61437808 [GRCh38]
Chr11:61205280 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.104A>C (p.Tyr35Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389004]|Hereditary pheochromocytoma-paraganglioma [RCV002012550] Chr11:61437692 [GRCh38]
Chr11:61205164 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.448G>C (p.Glu150Gln) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001973318] Chr11:61446018 [GRCh38]
Chr11:61213490 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.11C>T (p.Ser4Phe) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002011703] Chr11:61430157 [GRCh38]
Chr11:61197629 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.260+6G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV001936410] Chr11:61437854 [GRCh38]
Chr11:61205326 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.37-6T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002208678] Chr11:61437619 [GRCh38]
Chr11:61205091 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.30G>C (p.Ser10=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002191567] Chr11:61430176 [GRCh38]
Chr11:61197648 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.195C>T (p.Thr65=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002089456] Chr11:61437783 [GRCh38]
Chr11:61205255 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.454A>C (p.Arg152=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002149158] Chr11:61446024 [GRCh38]
Chr11:61213496 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.260+26dup duplication Hereditary pheochromocytoma-paraganglioma [RCV002124612] Chr11:61437865..61437866 [GRCh38]
Chr11:61205337..61205338 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.261-8G>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002088366] Chr11:61437996 [GRCh38]
Chr11:61205468 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.260+25_260+26dup duplication Hereditary pheochromocytoma-paraganglioma [RCV002125067] Chr11:61437865..61437866 [GRCh38]
Chr11:61205337..61205338 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.418C>T (p.Leu140=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002108409] Chr11:61445988 [GRCh38]
Chr11:61213460 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.294A>C (p.Thr98=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002094078] Chr11:61438037 [GRCh38]
Chr11:61205509 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.225A>G (p.Arg75=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002096320] Chr11:61437813 [GRCh38]
Chr11:61205285 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.180T>C (p.Asp60=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002151447] Chr11:61437768 [GRCh38]
Chr11:61205240 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.371-17C>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002081111] Chr11:61445924 [GRCh38]
Chr11:61213396 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.36+19C>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002135305] Chr11:61430201 [GRCh38]
Chr11:61197673 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.260+26del deletion Hereditary pheochromocytoma-paraganglioma [RCV002188121] Chr11:61437866 [GRCh38]
Chr11:61205338 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.450G>A (p.Glu150=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337339]|Hereditary pheochromocytoma-paraganglioma [RCV002114589] Chr11:61446020 [GRCh38]
Chr11:61213492 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.371-6T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002133783] Chr11:61445935 [GRCh38]
Chr11:61213407 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.36+7_36+9del deletion Hereditary pheochromocytoma-paraganglioma [RCV002170606] Chr11:61430189..61430191 [GRCh38]
Chr11:61197661..61197663 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.371-12C>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002093086] Chr11:61445929 [GRCh38]
Chr11:61213401 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.315T>C (p.Tyr105=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002098331] Chr11:61438058 [GRCh38]
Chr11:61205530 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.132A>G (p.Gln44=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002218728] Chr11:61437720 [GRCh38]
Chr11:61205192 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.216T>C (p.Tyr72=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002220607] Chr11:61437804 [GRCh38]
Chr11:61205276 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.370+17G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002141418] Chr11:61438130 [GRCh38]
Chr11:61205602 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.171G>A (p.Glu57=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400374]|Hereditary pheochromocytoma-paraganglioma [RCV002156436] Chr11:61437759 [GRCh38]
Chr11:61205231 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.37-18G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002217610] Chr11:61437607 [GRCh38]
Chr11:61205079 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.261-21_261-16del deletion Hereditary pheochromocytoma-paraganglioma [RCV002137259] Chr11:61437982..61437987 [GRCh38]
Chr11:61205454..61205459 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.261-8G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002098056] Chr11:61437996 [GRCh38]
Chr11:61205468 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.36+14A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002181241] Chr11:61430196 [GRCh38]
Chr11:61197668 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.300G>A (p.Lys100=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441276]|Hereditary pheochromocytoma-paraganglioma [RCV002199836] Chr11:61438043 [GRCh38]
Chr11:61205515 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.36+11A>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002157868] Chr11:61430193 [GRCh38]
Chr11:61197665 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.9G>A (p.Val3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382388]|Hereditary pheochromocytoma-paraganglioma [RCV002081522] Chr11:61430155 [GRCh38]
Chr11:61197627 [GRCh37]
Chr11:11q12.2		 likely benign
NC_000011.9:g.(?_58916346)_(64972349_?)dup duplication Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] Chr11:58916346..64972349 [GRCh37]
Chr11:11q12.1-13.1		 uncertain significance|no classifications from unflagged records
NC_000011.9:g.(?_61197619)_(61552680_?)del deletion Hereditary pheochromocytoma-paraganglioma [RCV003119804] Chr11:61197619..61552680 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.69T>C (p.Ser23=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003122055] Chr11:61437657 [GRCh38]
Chr11:61205129 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.33del (p.Ser11_Leu12insTer) deletion Hereditary cancer-predisposing syndrome [RCV002452035] Chr11:61430179 [GRCh38]
Chr11:61197651 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.33G>A (p.Ser11=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452038] Chr11:61430179 [GRCh38]
Chr11:61197651 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.370+4C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348925] Chr11:61438117 [GRCh38]
Chr11:61205589 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.477G>T (p.Glu159Asp) single nucleotide variant not provided [RCV002291895] Chr11:61446047 [GRCh38]
Chr11:61213519 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.385C>G (p.Pro129Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366227]|Hereditary pheochromocytoma-paraganglioma [RCV004005644] Chr11:61445955 [GRCh38]
Chr11:61213427 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
NM_017841.4(SDHAF2):c.33G>T (p.Ser11=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452060]|Hereditary pheochromocytoma-paraganglioma [RCV003099459] Chr11:61430179 [GRCh38]
Chr11:61197651 [GRCh37]
Chr11:11q12.2		 likely benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_017841.4(SDHAF2):c.285G>A (p.Gln95=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435465] Chr11:61438028 [GRCh38]
Chr11:61205500 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.122C>T (p.Thr41Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369185]|Hereditary pheochromocytoma-paraganglioma [RCV003776305] Chr11:61437710 [GRCh38]
Chr11:61205182 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455201] Chr11:61430183 [GRCh38]
Chr11:61197655 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455065]|Hereditary pheochromocytoma-paraganglioma [RCV003775671] Chr11:61438100 [GRCh38]
Chr11:61205572 [GRCh37]
Chr11:11q12.2		 likely pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.498T>C (p.Arg166=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351367] Chr11:61446068 [GRCh38]
Chr11:61213540 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.96A>G (p.Arg32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387013] Chr11:61437684 [GRCh38]
Chr11:61205156 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.264T>C (p.Leu88=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453061] Chr11:61438007 [GRCh38]
Chr11:61205479 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.131A>G (p.Gln44Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385641]|Hereditary pheochromocytoma-paraganglioma [RCV003774259]|not provided [RCV003149030] Chr11:61437719 [GRCh38]
Chr11:61205191 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.457C>G (p.Leu153Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342186] Chr11:61446027 [GRCh38]
Chr11:61213499 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.212T>C (p.Leu71Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417756]|Hereditary pheochromocytoma-paraganglioma [RCV003098642] Chr11:61437800 [GRCh38]
Chr11:61205272 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.23C>G (p.Ser8Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430667] Chr11:61430169 [GRCh38]
Chr11:61197641 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.295_296del (p.Glu99fs) deletion Hereditary pheochromocytoma-paraganglioma [RCV003633729]|not provided [RCV003480104] Chr11:61438037..61438038 [GRCh38]
Chr11:61205509..61205510 [GRCh37]
Chr11:11q12.2		 pathogenic|likely pathogenic
NM_017841.4(SDHAF2):c.278A>T (p.His93Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441387]|Hereditary pheochromocytoma-paraganglioma [RCV003102217] Chr11:61438021 [GRCh38]
Chr11:61205493 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.199A>C (p.Arg67=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417056] Chr11:61437787 [GRCh38]
Chr11:61205259 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.333G>A (p.Glu111=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326572] Chr11:61438076 [GRCh38]
Chr11:61205548 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.57C>T (p.His19=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359853] Chr11:61437645 [GRCh38]
Chr11:61205117 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.409A>G (p.Met137Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323290]|Hereditary pheochromocytoma-paraganglioma [RCV003102521] Chr11:61445979 [GRCh38]
Chr11:61213451 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.373G>T (p.Ala125Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363781] Chr11:61445943 [GRCh38]
Chr11:61213415 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.467C>T (p.Pro156Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335198]|Hereditary pheochromocytoma-paraganglioma [RCV003096417] Chr11:61446037 [GRCh38]
Chr11:61213509 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.467dup (p.Asp157fs) duplication Hereditary cancer-predisposing syndrome [RCV002335201] Chr11:61446033..61446034 [GRCh38]
Chr11:61213505..61213506 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.349G>A (p.Asp117Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459113]|Hereditary pheochromocytoma-paraganglioma [RCV003099525] Chr11:61438092 [GRCh38]
Chr11:61205564 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.445A>G (p.Lys149Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328404]|Hereditary pheochromocytoma-paraganglioma [RCV003633628] Chr11:61446015 [GRCh38]
Chr11:61213487 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.381A>G (p.Pro127=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355294] Chr11:61445951 [GRCh38]
Chr11:61213423 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.64T>C (p.Leu22=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364141]|Hereditary pheochromocytoma-paraganglioma [RCV003633641] Chr11:61437652 [GRCh38]
Chr11:61205124 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.135G>A (p.Lys45=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383458]|Hereditary pheochromocytoma-paraganglioma [RCV003517411] Chr11:61437723 [GRCh38]
Chr11:61205195 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.343G>C (p.Asp115His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457114] Chr11:61438086 [GRCh38]
Chr11:61205558 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.485T>C (p.Phe162Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340342] Chr11:61446055 [GRCh38]
Chr11:61213527 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.161C>T (p.Pro54Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401041] Chr11:61437749 [GRCh38]
Chr11:61205221 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.424G>T (p.Asp142Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329854]|Hereditary pheochromocytoma-paraganglioma [RCV003633625] Chr11:61445994 [GRCh38]
Chr11:61213466 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.219G>A (p.Glu73=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425662] Chr11:61437807 [GRCh38]
Chr11:61205279 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.328A>T (p.Asn110Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445815] Chr11:61438071 [GRCh38]
Chr11:61205543 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.189dup (p.Glu64fs) duplication Hereditary cancer-predisposing syndrome [RCV002408197] Chr11:61437776..61437777 [GRCh38]
Chr11:61205248..61205249 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.158C>G (p.Pro53Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002301708] Chr11:61437746 [GRCh38]
Chr11:61205218 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.63A>C (p.Leu21=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361551] Chr11:61437651 [GRCh38]
Chr11:61205123 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.35T>A (p.Leu12Gln) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002301736] Chr11:61430181 [GRCh38]
Chr11:61197653 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.162A>G (p.Pro54=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401232]|Hereditary pheochromocytoma-paraganglioma [RCV003774419] Chr11:61437750 [GRCh38]
Chr11:61205222 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.24G>C (p.Ser8=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431090] Chr11:61430170 [GRCh38]
Chr11:61197642 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.45T>C (p.Ala15=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342379] Chr11:61437633 [GRCh38]
Chr11:61205105 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.452A>G (p.Gln151Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340029]|Hereditary pheochromocytoma-paraganglioma [RCV003094742] Chr11:61446022 [GRCh38]
Chr11:61213494 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.22T>A (p.Ser8Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428471] Chr11:61430168 [GRCh38]
Chr11:61197640 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.428T>C (p.Phe143Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330197] Chr11:61445998 [GRCh38]
Chr11:61213470 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.267dup (p.Ala90fs) duplication Hereditary cancer-predisposing syndrome [RCV002428891] Chr11:61438005..61438006 [GRCh38]
Chr11:61205477..61205478 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.453G>T (p.Gln151His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330318] Chr11:61446023 [GRCh38]
Chr11:61213495 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.444C>A (p.Asn148Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328320]|Hereditary pheochromocytoma-paraganglioma [RCV003094708] Chr11:61446014 [GRCh38]
Chr11:61213486 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.480C>A (p.Tyr160Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337930]|Hereditary pheochromocytoma-paraganglioma [RCV003517393] Chr11:61446050 [GRCh38]
Chr11:61213522 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.48G>A (p.Leu16=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332408] Chr11:61437636 [GRCh38]
Chr11:61205108 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.22T>C (p.Ser8Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446315] Chr11:61430168 [GRCh38]
Chr11:61197640 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.468A>G (p.Pro156=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335235] Chr11:61446038 [GRCh38]
Chr11:61213510 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.12T>C (p.Ser4=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380819]|Hereditary pheochromocytoma-paraganglioma [RCV003633651] Chr11:61430158 [GRCh38]
Chr11:61197630 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.49T>C (p.Ser17Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343024]|Hereditary pheochromocytoma-paraganglioma [RCV003776012] Chr11:61437637 [GRCh38]
Chr11:61205109 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.450G>T (p.Glu150Asp) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002302021] Chr11:61446020 [GRCh38]
Chr11:61213492 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.469_472del (p.Asp157fs) deletion Hereditary cancer-predisposing syndrome [RCV002335254] Chr11:61446039..61446042 [GRCh38]
Chr11:61213511..61213514 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.115A>G (p.Ser39Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321114]|Hereditary pheochromocytoma-paraganglioma [RCV003775763] Chr11:61437703 [GRCh38]
Chr11:61205175 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.114C>T (p.Asp38=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346636] Chr11:61437702 [GRCh38]
Chr11:61205174 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.90A>C (p.Ser30=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378618]|Hereditary pheochromocytoma-paraganglioma [RCV003517408] Chr11:61437678 [GRCh38]
Chr11:61205150 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.108A>G (p.Arg36=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443811] Chr11:61437696 [GRCh38]
Chr11:61205168 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.-5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357988] Chr11:61430142 [GRCh38]
Chr11:61197614 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.247T>C (p.Cys83Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002967670] Chr11:61437835 [GRCh38]
Chr11:61205307 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.283C>T (p.Gln95Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003308381]|Hereditary pheochromocytoma-paraganglioma [RCV002971134] Chr11:61438026 [GRCh38]
Chr11:61205498 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.119C>T (p.Pro40Leu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002617850] Chr11:61437707 [GRCh38]
Chr11:61205179 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.260+13G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002843542] Chr11:61437861 [GRCh38]
Chr11:61205333 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.370+19A>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003032929] Chr11:61438132 [GRCh38]
Chr11:61205604 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.268G>C (p.Ala90Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002994689] Chr11:61438011 [GRCh38]
Chr11:61205483 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.371-13T>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002858001] Chr11:61445928 [GRCh38]
Chr11:61213400 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.270T>C (p.Ala90=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003079276] Chr11:61438013 [GRCh38]
Chr11:61205485 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.310C>T (p.Leu104Phe) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002800267] Chr11:61438053 [GRCh38]
Chr11:61205525 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.18G>C (p.Val6=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002740340] Chr11:61430164 [GRCh38]
Chr11:61197636 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.370+20G>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002800088] Chr11:61438133 [GRCh38]
Chr11:61205605 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.228G>C (p.Lys76Asn) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003003141] Chr11:61437816 [GRCh38]
Chr11:61205288 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.273A>G (p.Lys91=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170807]|Hereditary pheochromocytoma-paraganglioma [RCV002999075] Chr11:61438016 [GRCh38]
Chr11:61205488 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.19T>C (p.Phe7Leu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002910097] Chr11:61430165 [GRCh38]
Chr11:61197637 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.263T>C (p.Leu88Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003020588] Chr11:61438006 [GRCh38]
Chr11:61205478 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.37-5T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002885243] Chr11:61437620 [GRCh38]
Chr11:61205092 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.412G>C (p.Ala138Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002591348] Chr11:61445982 [GRCh38]
Chr11:61213454 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.89C>G (p.Ser30Ter) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002846684] Chr11:61437677 [GRCh38]
Chr11:61205149 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.88T>C (p.Ser30Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003037700] Chr11:61437676 [GRCh38]
Chr11:61205148 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.416T>C (p.Leu139Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002948911] Chr11:61445986 [GRCh38]
Chr11:61213458 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.410T>C (p.Met137Thr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003025361] Chr11:61445980 [GRCh38]
Chr11:61213452 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+12G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002624776] Chr11:61430194 [GRCh38]
Chr11:61197666 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.261-19_261-16del deletion Hereditary pheochromocytoma-paraganglioma [RCV003083765] Chr11:61437982..61437985 [GRCh38]
Chr11:61205454..61205457 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.477G>A (p.Glu159=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003056959] Chr11:61446047 [GRCh38]
Chr11:61213519 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.184T>C (p.Ser62Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003024678] Chr11:61437772 [GRCh38]
Chr11:61205244 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.9G>C (p.Val3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004068819]|Hereditary pheochromocytoma-paraganglioma [RCV002595219] Chr11:61430155 [GRCh38]
Chr11:61197627 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.184T>G (p.Ser62Ala) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002932894] Chr11:61437772 [GRCh38]
Chr11:61205244 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.214T>C (p.Tyr72His) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003041625] Chr11:61437802 [GRCh38]
Chr11:61205274 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.261-16T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002872443] Chr11:61437988 [GRCh38]
Chr11:61205460 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.36+16G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002800687] Chr11:61430198 [GRCh38]
Chr11:61197670 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375693]|Hereditary pheochromocytoma-paraganglioma [RCV002790668]|Paragangliomas 2 [RCV003475422] Chr11:61430182 [GRCh38]
Chr11:61197654 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.153T>A (p.Pro51=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002872076] Chr11:61437741 [GRCh38]
Chr11:61205213 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.480C>G (p.Tyr160Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003308412]|Hereditary pheochromocytoma-paraganglioma [RCV003007364] Chr11:61446050 [GRCh38]
Chr11:61213522 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.367A>C (p.Thr123Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002941945] Chr11:61438110 [GRCh38]
Chr11:61205582 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.260+16T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002627695] Chr11:61437864 [GRCh38]
Chr11:61205336 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.488A>C (p.Glu163Ala) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003046724] Chr11:61446058 [GRCh38]
Chr11:61213530 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.497G>T (p.Arg166Leu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002600025] Chr11:61446067 [GRCh38]
Chr11:61213539 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.432T>C (p.Ala144=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002806038] Chr11:61446002 [GRCh38]
Chr11:61213474 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.318C>G (p.Asp106Glu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002856408] Chr11:61438061 [GRCh38]
Chr11:61205533 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.178G>A (p.Asp60Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004068743]|Hereditary pheochromocytoma-paraganglioma [RCV003047360] Chr11:61437766 [GRCh38]
Chr11:61205238 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.324G>C (p.Leu108=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002898903] Chr11:61438067 [GRCh38]
Chr11:61205539 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.36+1G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002857503] Chr11:61430183 [GRCh38]
Chr11:61197655 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_017841.4(SDHAF2):c.19T>G (p.Phe7Val) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002807021] Chr11:61430165 [GRCh38]
Chr11:61197637 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.37-20T>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002628154] Chr11:61437605 [GRCh38]
Chr11:61205077 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.371-15_371-13del deletion Hereditary pheochromocytoma-paraganglioma [RCV002857554] Chr11:61445926..61445928 [GRCh38]
Chr11:61213398..61213400 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.371-9C>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003050938] Chr11:61445932 [GRCh38]
Chr11:61213404 [GRCh37]
Chr11:11q12.2		 likely benign|conflicting interpretations of pathogenicity
NM_017841.4(SDHAF2):c.5C>T (p.Ala2Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003382973]|Hereditary pheochromocytoma-paraganglioma [RCV002943115]|not provided [RCV004593105] Chr11:61430151 [GRCh38]
Chr11:61197623 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+14A>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003050242] Chr11:61430196 [GRCh38]
Chr11:61197668 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.21C>A (p.Phe7Leu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003071563] Chr11:61430167 [GRCh38]
Chr11:61197639 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+12G>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV002726125] Chr11:61430194 [GRCh38]
Chr11:61197666 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.260+14A>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003071853] Chr11:61437862 [GRCh38]
Chr11:61205334 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.32C>A (p.Ser11Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004071868]|Hereditary pheochromocytoma-paraganglioma [RCV003069774] Chr11:61430178 [GRCh38]
Chr11:61197650 [GRCh37]
Chr11:11q12.2		 pathogenic|uncertain significance
NM_017841.4(SDHAF2):c.-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296091]|SDHAF2-related disorder [RCV003954082] Chr11:61430143 [GRCh38]
Chr11:61197615 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.408C>A (p.Val136=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181762] Chr11:61445978 [GRCh38]
Chr11:61213450 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.466C>G (p.Pro156Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181763] Chr11:61446036 [GRCh38]
Chr11:61213508 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.9G>T (p.Val3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181764] Chr11:61430155 [GRCh38]
Chr11:61197627 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.29C>G (p.Ser10Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181765] Chr11:61430175 [GRCh38]
Chr11:61197647 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.122C>A (p.Thr41Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181766] Chr11:61437710 [GRCh38]
Chr11:61205182 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.95G>A (p.Arg32Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181767] Chr11:61437683 [GRCh38]
Chr11:61205155 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.66G>T (p.Leu22Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216597]|Hereditary pheochromocytoma-paraganglioma [RCV003633694] Chr11:61437654 [GRCh38]
Chr11:61205126 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.243A>C (p.Glu81Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301598] Chr11:61437831 [GRCh38]
Chr11:61205303 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.139A>T (p.Met47Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301600] Chr11:61437727 [GRCh38]
Chr11:61205199 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.74T>C (p.Leu25Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301601] Chr11:61437662 [GRCh38]
Chr11:61205134 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.75G>T (p.Leu25Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003301602] Chr11:61437663 [GRCh38]
Chr11:61205135 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs) deletion Paragangliomas 2 [RCV003140419] Chr11:61446048..61446051 [GRCh38]
Chr11:61213520..61213523 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.277C>T (p.His93Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165277]|Hereditary pheochromocytoma-paraganglioma [RCV003517464] Chr11:61438020 [GRCh38]
Chr11:61205492 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.4G>T (p.Ala2Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168302] Chr11:61430150 [GRCh38]
Chr11:61197622 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.475G>C (p.Glu159Gln) single nucleotide variant not provided [RCV003229370] Chr11:61446045 [GRCh38]
Chr11:61213517 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg) single nucleotide variant Paragangliomas 2 [RCV003319153] Chr11:61437820 [GRCh38]
Chr11:61205292 [GRCh37]
Chr11:11q12.2		 not provided
NM_017841.4(SDHAF2):c.364G>T (p.Ala122Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305527]|Hereditary pheochromocytoma-paraganglioma [RCV003517478] Chr11:61438107 [GRCh38]
Chr11:61205579 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.495A>C (p.Pro165=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380336] Chr11:61446065 [GRCh38]
Chr11:61213537 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.20T>C (p.Phe7Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380337] Chr11:61430166 [GRCh38]
Chr11:61197638 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.316G>A (p.Asp106Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380339] Chr11:61438059 [GRCh38]
Chr11:61205531 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.233del (p.Gly78fs) deletion Hereditary cancer-predisposing syndrome [RCV003380340] Chr11:61437818 [GRCh38]
Chr11:61205290 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.129C>T (p.Ser43=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380341]|Hereditary pheochromocytoma-paraganglioma [RCV004011295] Chr11:61437717 [GRCh38]
Chr11:61205189 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.282G>A (p.Leu94=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380335] Chr11:61438025 [GRCh38]
Chr11:61205497 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.260G>C (p.Ser87Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380338] Chr11:61437848 [GRCh38]
Chr11:61205320 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.210G>A (p.Leu70=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380342] Chr11:61437798 [GRCh38]
Chr11:61205270 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.128C>T (p.Ser43Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387082]|Hereditary pheochromocytoma-paraganglioma [RCV003517490] Chr11:61437716 [GRCh38]
Chr11:61205188 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.329A>G (p.Asn110Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387087] Chr11:61438072 [GRCh38]
Chr11:61205544 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.247T>G (p.Cys83Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387099]|Hereditary pheochromocytoma-paraganglioma [RCV003633711] Chr11:61437835 [GRCh38]
Chr11:61205307 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.378A>G (p.Lys126=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387106]|Hereditary pheochromocytoma-paraganglioma [RCV003517491] Chr11:61445948 [GRCh38]
Chr11:61213420 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004364797]|Paragangliomas 2 [RCV003472633] Chr11:61437627 [GRCh38]
Chr11:61205099 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.261-10T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003633727]|not provided [RCV003477367] Chr11:61437994 [GRCh38]
Chr11:61205466 [GRCh37]
Chr11:11q12.2		 likely benign|uncertain significance
NM_017841.4(SDHAF2):c.36+2T>C single nucleotide variant not provided [RCV003477368] Chr11:61430184 [GRCh38]
Chr11:61197656 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004661665]|Paragangliomas 2 [RCV003472632] Chr11:61430151 [GRCh38]
Chr11:61197623 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys) single nucleotide variant Paragangliomas 2 [RCV003472634] Chr11:61437761 [GRCh38]
Chr11:61205233 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu) single nucleotide variant Paragangliomas 2 [RCV003472631] Chr11:61437659 [GRCh38]
Chr11:61205131 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.371-4G>C single nucleotide variant Paragangliomas 2 [RCV003472636] Chr11:61445937 [GRCh38]
Chr11:61213409 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter) single nucleotide variant Paragangliomas 2 [RCV003472635] Chr11:61438044 [GRCh38]
Chr11:61205516 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_017841.4(SDHAF2):c.37-793A>G single nucleotide variant not provided [RCV003395827] Chr11:61436832 [GRCh38]
Chr11:61204304 [GRCh37]
Chr11:11q12.2		 benign
NM_017841.4(SDHAF2):c.455G>C (p.Arg152Thr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003518020] Chr11:61446025 [GRCh38]
Chr11:61213497 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.317A>G (p.Asp106Gly) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003518471] Chr11:61438060 [GRCh38]
Chr11:61205532 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.224G>A (p.Arg75Lys) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003518090] Chr11:61437812 [GRCh38]
Chr11:61205284 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.34C>G (p.Leu12Val) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003516999] Chr11:61430180 [GRCh38]
Chr11:61197652 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.326T>C (p.Ile109Thr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003518081] Chr11:61438069 [GRCh38]
Chr11:61205541 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.50C>T (p.Ser17Leu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003516812] Chr11:61437638 [GRCh38]
Chr11:61205110 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.370+1G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003830660] Chr11:61438114 [GRCh38]
Chr11:61205586 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.200G>T (p.Arg67Ile) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003879288] Chr11:61437788 [GRCh38]
Chr11:61205260 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.501A>G (p.Ter167Trp) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003826386] Chr11:61446071 [GRCh38]
Chr11:61213543 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.261-1G>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003517925] Chr11:61438003 [GRCh38]
Chr11:61205475 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_017841.4(SDHAF2):c.215A>T (p.Tyr72Phe) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003848844] Chr11:61437803 [GRCh38]
Chr11:61205275 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.138C>A (p.Asp46Glu) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003516779] Chr11:61437726 [GRCh38]
Chr11:61205198 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.112G>A (p.Asp38Asn) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003517683] Chr11:61437700 [GRCh38]
Chr11:61205172 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.260+15G>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003517710] Chr11:61437863 [GRCh38]
Chr11:61205335 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.37-20T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003516635] Chr11:61437605 [GRCh38]
Chr11:61205077 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.280C>G (p.Leu94Val) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003517574] Chr11:61438023 [GRCh38]
Chr11:61205495 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.62T>G (p.Leu21Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003517097] Chr11:61437650 [GRCh38]
Chr11:61205122 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.320G>T (p.Arg107Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004374069]|Hereditary pheochromocytoma-paraganglioma [RCV003633426] Chr11:61438063 [GRCh38]
Chr11:61205535 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.287A>C (p.His96Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004673944]|Hereditary pheochromocytoma-paraganglioma [RCV003634793] Chr11:61438030 [GRCh38]
Chr11:61205502 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+16G>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003633472] Chr11:61430198 [GRCh38]
Chr11:61197670 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.260+7G>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634882] Chr11:61437855 [GRCh38]
Chr11:61205327 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.396del (p.Phe132fs) deletion Hereditary pheochromocytoma-paraganglioma [RCV003634982] Chr11:61445964 [GRCh38]
Chr11:61213436 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.59G>A (p.Ser20Asn) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003633837] Chr11:61437647 [GRCh38]
Chr11:61205119 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.366_370+9del deletion Hereditary pheochromocytoma-paraganglioma [RCV003634222] Chr11:61438109..61438122 [GRCh38]
Chr11:61205581..61205594 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.250A>G (p.Ile84Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004661758]|Hereditary pheochromocytoma-paraganglioma [RCV003634288] Chr11:61437838 [GRCh38]
Chr11:61205310 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.471T>C (p.Asp157=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634275] Chr11:61446041 [GRCh38]
Chr11:61213513 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.131A>C (p.Gln44Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634544] Chr11:61437719 [GRCh38]
Chr11:61205191 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.36+7A>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634361] Chr11:61430189 [GRCh38]
Chr11:61197661 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.382G>A (p.Ala128Thr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003633172] Chr11:61445952 [GRCh38]
Chr11:61213424 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.265T>G (p.Phe89Val) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003635111] Chr11:61438008 [GRCh38]
Chr11:61205480 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.260+11A>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003633236] Chr11:61437859 [GRCh38]
Chr11:61205331 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.36+10G>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634536] Chr11:61430192 [GRCh38]
Chr11:61197664 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.300G>T (p.Lys100Asn) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003633433] Chr11:61438043 [GRCh38]
Chr11:61205515 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.37-113T>G single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634185] Chr11:61437512 [GRCh38]
Chr11:61204984 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.17T>G (p.Val6Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004366875]|Hereditary pheochromocytoma-paraganglioma [RCV003838940] Chr11:61430163 [GRCh38]
Chr11:61197635 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.109G>A (p.Gly37Ser) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003837688] Chr11:61437697 [GRCh38]
Chr11:61205169 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.4G>A (p.Ala2Thr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634761] Chr11:61430150 [GRCh38]
Chr11:61197622 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.26C>G (p.Thr9Ser) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634813] Chr11:61430172 [GRCh38]
Chr11:61197644 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.370+10A>T single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634360] Chr11:61438123 [GRCh38]
Chr11:61205595 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs) deletion Hereditary cancer-predisposing syndrome [RCV004673928]|Hereditary pheochromocytoma-paraganglioma [RCV004011567]|Paragangliomas 2 [RCV003496835] Chr11:61430153..61430163 [GRCh38]
Chr11:61197625..61197635 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_017841.4(SDHAF2):c.37-12T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634947] Chr11:61437613 [GRCh38]
Chr11:61205085 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.331G>C (p.Glu111Gln) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634684] Chr11:61438074 [GRCh38]
Chr11:61205546 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.20T>A (p.Phe7Tyr) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003634657] Chr11:61430166 [GRCh38]
Chr11:61197638 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.370+11T>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003867655] Chr11:61438124 [GRCh38]
Chr11:61205596 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 copy number gain not specified [RCV003986918] Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1		 likely pathogenic
NM_017841.4(SDHAF2):c.51A>C (p.Ser17=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003871539] Chr11:61437639 [GRCh38]
Chr11:61205111 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.260+7G>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV003819770] Chr11:61437855 [GRCh38]
Chr11:61205327 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.*3T>A single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004012745] Chr11:61446074 [GRCh38]
Chr11:61213546 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.105C>T (p.Tyr35=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522213] Chr11:61437693 [GRCh38]
Chr11:61205165 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.313dup (p.Tyr105fs) duplication Hereditary cancer-predisposing syndrome [RCV004522218] Chr11:61438055..61438056 [GRCh38]
Chr11:61205527..61205528 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.378A>T (p.Lys126Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522221] Chr11:61445948 [GRCh38]
Chr11:61213420 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.493C>T (p.Pro165Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522224] Chr11:61446063 [GRCh38]
Chr11:61213535 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.70C>T (p.Pro24Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522226] Chr11:61437658 [GRCh38]
Chr11:61205130 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.112G>C (p.Asp38His) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004012541] Chr11:61437700 [GRCh38]
Chr11:61205172 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.206G>C (p.Arg69Pro) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004012556] Chr11:61437794 [GRCh38]
Chr11:61205266 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.177T>A (p.Thr59=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522214] Chr11:61437765 [GRCh38]
Chr11:61205237 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.211_242del (p.Leu71fs) deletion Hereditary cancer-predisposing syndrome [RCV004522215] Chr11:61437799..61437830 [GRCh38]
Chr11:61205271..61205302 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.317A>T (p.Asp106Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522219] Chr11:61438060 [GRCh38]
Chr11:61205532 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.398A>G (p.Glu133Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522222] Chr11:61445968 [GRCh38]
Chr11:61213440 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.219G>C (p.Glu73Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522216] Chr11:61437807 [GRCh38]
Chr11:61205279 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.307A>T (p.Asn103Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522217] Chr11:61438050 [GRCh38]
Chr11:61205522 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.331G>T (p.Glu111Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522220] Chr11:61438074 [GRCh38]
Chr11:61205546 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_017841.4(SDHAF2):c.58A>C (p.Ser20Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522225] Chr11:61437646 [GRCh38]
Chr11:61205118 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.76C>T (p.Leu26Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004522227] Chr11:61437664 [GRCh38]
Chr11:61205136 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.152C>G (p.Pro51Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004012389] Chr11:61437740 [GRCh38]
Chr11:61205212 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.261-12del deletion Hereditary pheochromocytoma-paraganglioma [RCV004013943] Chr11:61437990 [GRCh38]
Chr11:61205462 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.163T>C (p.Trp55Arg) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004014645] Chr11:61437751 [GRCh38]
Chr11:61205223 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.260+6G>C single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004013164] Chr11:61437854 [GRCh38]
Chr11:61205326 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.18G>T (p.Val6=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004014409] Chr11:61430164 [GRCh38]
Chr11:61197636 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.267T>C (p.Phe89=) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004014654] Chr11:61438010 [GRCh38]
Chr11:61205482 [GRCh37]
Chr11:11q12.2		 likely benign
NM_017841.4(SDHAF2):c.407T>C (p.Val136Ala) single nucleotide variant Hereditary pheochromocytoma-paraganglioma [RCV004016006] Chr11:61445977 [GRCh38]
Chr11:61213449 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.250A>C (p.Ile84Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004663457] Chr11:61437838 [GRCh38]
Chr11:61205310 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.110G>A (p.Gly37Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004663460] Chr11:61437698 [GRCh38]
Chr11:61205170 [GRCh37]
Chr11:11q12.2		 uncertain significance
NC_000011.9:g.(?_61213403)_(61213543_?)del deletion Hereditary pheochromocytoma-paraganglioma [RCV004580192] Chr11:61213403..61213543 [GRCh37]
Chr11:11q12.2		 uncertain significance
NC_000011.9:g.(?_61213393)_(61213543_?)dup duplication Hereditary pheochromocytoma-paraganglioma [RCV004580193] Chr11:61213393..61213543 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.143T>G (p.Ile48Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004663461] Chr11:61437731 [GRCh38]
Chr11:61205203 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.406del (p.Val136fs) deletion Paragangliomas 2 [RCV004573569] Chr11:61445976 [GRCh38]
Chr11:61213448 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_017841.4(SDHAF2):c.348G>A (p.Trp116Ter) single nucleotide variant not provided [RCV004585854] Chr11:61438091 [GRCh38]
Chr11:61205563 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_017841.4(SDHAF2):c.184T>A (p.Ser62Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004666959] Chr11:61437772 [GRCh38]
Chr11:61205244 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.385C>A (p.Pro129Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004663458] Chr11:61445955 [GRCh38]
Chr11:61213427 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.1A>G (p.Met1Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004666960] Chr11:61430147 [GRCh38]
Chr11:61197619 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_017841.4(SDHAF2):c.244A>G (p.Asn82Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003380343]|Hereditary pheochromocytoma-paraganglioma [RCV003517496] Chr11:61437832 [GRCh38]
Chr11:61205304 [GRCh37]
Chr11:11q12.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4834
Count of miRNA genes:1062
Interacting mature miRNAs:1344
Transcripts:ENST00000301761, ENST00000359614, ENST00000534878, ENST00000536250, ENST00000536670, ENST00000537782, ENST00000538594, ENST00000541135, ENST00000542074, ENST00000542794, ENST00000543044, ENST00000543265, ENST00000544025, ENST00000544801, ENST00000544880
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
407031161GWAS680137_Halcohol consumption measurement QTL GWAS680137 (human)4e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)116143475361434754Human

Markers in Region
D11S1647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711110,800,358 - 110,800,615UniSTSGRCh37
Celera11107,953,553 - 107,953,806UniSTS
Cytogenetic Map11q12.2UniSTS
HuRef11106,724,711 - 106,724,964UniSTS
Marshfield Genetic Map1198.98RGD
Marshfield Genetic Map1198.98UniSTS
deCODE Assembly Map11109.66UniSTS
WI-12356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,214,059 - 61,214,208UniSTSGRCh37
Build 361160,970,635 - 60,970,784RGDNCBI36
Celera1158,549,579 - 58,549,728RGD
Cytogenetic Map11q12.2UniSTS
HuRef1157,541,948 - 57,542,097UniSTS
GeneMap99-GB4 RH Map11227.83UniSTS
Whitehead-RH Map11289.1UniSTS
RH79179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,213,913 - 61,214,065UniSTSGRCh37
Build 361160,970,489 - 60,970,641RGDNCBI36
Celera1158,549,433 - 58,549,585RGD
Cytogenetic Map11q12.2UniSTS
GeneMap99-GB4 RH Map11227.83UniSTS
NCBI RH Map11550.5UniSTS
G62044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,213,886 - 61,213,991UniSTSGRCh37
Build 361160,970,462 - 60,970,567RGDNCBI36
Celera1158,549,406 - 58,549,511RGD
Cytogenetic Map11q12.2UniSTS
HuRef1157,541,775 - 57,541,880UniSTS
D11S2295E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,213,983 - 61,214,079UniSTSGRCh37
Build 361160,970,559 - 60,970,655RGDNCBI36
Celera1158,549,503 - 58,549,599RGD
Cytogenetic Map11q12.2UniSTS
HuRef1157,541,872 - 57,541,968UniSTS
GeneMap99-GB4 RH Map11227.62UniSTS


Sequence


Ensembl Acc Id: ENST00000301761   ⟹   ENSP00000301761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,124 - 61,446,733 (+)Ensembl
Ensembl Acc Id: ENST00000359614   ⟹   ENSP00000352630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,125 - 61,446,005 (+)Ensembl
Ensembl Acc Id: ENST00000534878   ⟹   ENSP00000471030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,124 - 61,438,243 (+)Ensembl
Ensembl Acc Id: ENST00000536250   ⟹   ENSP00000471120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,131 - 61,438,186 (+)Ensembl
Ensembl Acc Id: ENST00000536670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,121 - 61,468,716 (+)Ensembl
Ensembl Acc Id: ENST00000537782   ⟹   ENSP00000469951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,125 - 61,446,059 (+)Ensembl
Ensembl Acc Id: ENST00000538594   ⟹   ENSP00000440939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,125 - 61,484,727 (+)Ensembl
Ensembl Acc Id: ENST00000541135   ⟹   ENSP00000443130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,056 - 61,481,842 (+)Ensembl
Ensembl Acc Id: ENST00000542074   ⟹   ENSP00000469670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,105 - 61,446,697 (+)Ensembl
Ensembl Acc Id: ENST00000542794   ⟹   ENSP00000439983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,042 - 61,446,342 (+)Ensembl
Ensembl Acc Id: ENST00000543044   ⟹   ENSP00000440219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,150 - 61,482,398 (+)Ensembl
Ensembl Acc Id: ENST00000543265   ⟹   ENSP00000443660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,144 - 61,446,115 (+)Ensembl
Ensembl Acc Id: ENST00000544025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,429,220 - 61,481,879 (+)Ensembl
Ensembl Acc Id: ENST00000544801   ⟹   ENSP00000442581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,126 - 61,484,762 (+)Ensembl
Ensembl Acc Id: ENST00000544880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,143 - 61,485,822 (+)Ensembl
Ensembl Acc Id: ENST00000623232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,124 - 61,436,135 (+)Ensembl
Ensembl Acc Id: ENST00000713959   ⟹   ENSP00000519252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,050 - 61,446,761 (+)Ensembl
Ensembl Acc Id: ENST00000713960   ⟹   ENSP00000519253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,065 - 61,446,740 (+)Ensembl
Ensembl Acc Id: ENST00000713961   ⟹   ENSP00000519254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,112 - 61,446,839 (+)Ensembl
Ensembl Acc Id: ENST00000713962   ⟹   ENSP00000519255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,112 - 61,446,839 (+)Ensembl
Ensembl Acc Id: ENST00000713963   ⟹   ENSP00000519256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,124 - 61,446,839 (+)Ensembl
Ensembl Acc Id: ENST00000713964   ⟹   ENSP00000519257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,134 - 61,446,733 (+)Ensembl
Ensembl Acc Id: ENST00000713965   ⟹   ENSP00000519258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,134 - 61,446,737 (+)Ensembl
Ensembl Acc Id: ENST00000713966   ⟹   ENSP00000519259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,430,140 - 61,446,839 (+)Ensembl
RefSeq Acc Id: NM_017841   ⟹   NP_060311
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,430,124 - 61,446,733 (+)NCBI
GRCh371161,197,514 - 61,214,239 (+)NCBI
Build 361160,954,173 - 60,970,805 (+)NCBI Archive
HuRef1157,525,486 - 57,542,128 (+)ENTREZGENE
CHM1_11161,080,599 - 61,097,240 (+)NCBI
T2T-CHM13v2.01161,419,022 - 61,435,631 (+)NCBI
Sequence:
RefSeq Acc Id: NP_060311   ⟸   NM_017841
- UniProtKB: Q9NX18 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000443130   ⟸   ENST00000541135
Ensembl Acc Id: ENSP00000352630   ⟸   ENST00000359614
Ensembl Acc Id: ENSP00000439983   ⟸   ENST00000542794
Ensembl Acc Id: ENSP00000469670   ⟸   ENST00000542074
Ensembl Acc Id: ENSP00000440219   ⟸   ENST00000543044
Ensembl Acc Id: ENSP00000443660   ⟸   ENST00000543265
Ensembl Acc Id: ENSP00000442581   ⟸   ENST00000544801
Ensembl Acc Id: ENSP00000471030   ⟸   ENST00000534878
Ensembl Acc Id: ENSP00000471120   ⟸   ENST00000536250
Ensembl Acc Id: ENSP00000469951   ⟸   ENST00000537782
Ensembl Acc Id: ENSP00000440939   ⟸   ENST00000538594
Ensembl Acc Id: ENSP00000301761   ⟸   ENST00000301761
Ensembl Acc Id: ENSP00000519258   ⟸   ENST00000713965
Ensembl Acc Id: ENSP00000519254   ⟸   ENST00000713961
Ensembl Acc Id: ENSP00000519257   ⟸   ENST00000713964
Ensembl Acc Id: ENSP00000519256   ⟸   ENST00000713963
Ensembl Acc Id: ENSP00000519253   ⟸   ENST00000713960
Ensembl Acc Id: ENSP00000519255   ⟸   ENST00000713962
Ensembl Acc Id: ENSP00000519259   ⟸   ENST00000713966
Ensembl Acc Id: ENSP00000519252   ⟸   ENST00000713959

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NX18-F1-model_v2 AlphaFold Q9NX18 1-166 view protein structure

Promoters
RGD ID:6789361
Promoter ID:HG_KWN:13055
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001136040,   NM_001142565,   NM_017841,   NM_024811,   OTTHUMT00000347831,   OTTHUMT00000347832,   OTTHUMT00000347833,   OTTHUMT00000347838,   OTTHUMT00000347839,   OTTHUMT00000347840,   OTTHUMT00000347842,   UC001NRO.1,   UC001NRS.1,   UC009YNP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361160,952,466 - 60,954,267 (-)MPROMDB
RGD ID:7220545
Promoter ID:EPDNEW_H16019
Type:initiation region
Name:SDHAF2_1
Description:succinate dehydrogenase complex assembly factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16020  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,430,124 - 61,430,184EPDNEW
RGD ID:7220551
Promoter ID:EPDNEW_H16020
Type:multiple initiation site
Name:SDHAF2_2
Description:succinate dehydrogenase complex assembly factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16019  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,436,900 - 61,436,960EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26034 AgrOrtholog
COSMIC SDHAF2 COSMIC
Ensembl Genes ENSG00000167985 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000256591 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301761 ENTREZGENE
  ENST00000301761.7 UniProtKB/Swiss-Prot
  ENST00000359614.9 UniProtKB/TrEMBL
  ENST00000536250.1 UniProtKB/TrEMBL
  ENST00000537782.5 UniProtKB/TrEMBL
  ENST00000538594.5 UniProtKB/TrEMBL
  ENST00000541135.5 UniProtKB/TrEMBL
  ENST00000542074.1 UniProtKB/TrEMBL
  ENST00000542794.5 UniProtKB/TrEMBL
  ENST00000543044.2 UniProtKB/TrEMBL
  ENST00000543265.1 UniProtKB/TrEMBL
  ENST00000544801.5 UniProtKB/TrEMBL
  ENST00000713959.1 UniProtKB/TrEMBL
  ENST00000713960.1 UniProtKB/TrEMBL
  ENST00000713961.1 UniProtKB/TrEMBL
  ENST00000713962.1 UniProtKB/TrEMBL
  ENST00000713963.1 UniProtKB/TrEMBL
  ENST00000713964.1 UniProtKB/TrEMBL
  ENST00000713965.1 UniProtKB/TrEMBL
  ENST00000713966.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.250 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167985 GTEx
  ENSG00000256591 GTEx
HGNC ID HGNC:26034 ENTREZGENE
Human Proteome Map SDHAF2 Human Proteome Map
InterPro SDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDHAF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54949 UniProtKB/Swiss-Prot
NCBI Gene 54949 ENTREZGENE
OMIM 613019 OMIM
PANTHER PROTEIN EMI5 HOMOLOG, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUCCINATE DEHYDROGENASE ASSEMBLY FACTOR 2, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sdh5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165543618 PharmGKB
Superfamily-SCOP SSF109910 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AAQ5BH68_HUMAN UniProtKB/TrEMBL
  A0AAQ5BH75_HUMAN UniProtKB/TrEMBL
  A0AAQ5BH77_HUMAN UniProtKB/TrEMBL
  A0AAQ5BH83_HUMAN UniProtKB/TrEMBL
  A0AAQ5BH90_HUMAN UniProtKB/TrEMBL
  A0AAQ5BH98_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHA2_HUMAN UniProtKB/TrEMBL
  F5GXW4_HUMAN UniProtKB/TrEMBL
  F5GYJ5_HUMAN UniProtKB/TrEMBL
  F5H4T4_HUMAN UniProtKB/TrEMBL
  F5H5T6_HUMAN UniProtKB/TrEMBL
  F5H8E2_HUMAN UniProtKB/TrEMBL
  F8W679_HUMAN UniProtKB/TrEMBL
  M0QY91_HUMAN UniProtKB/TrEMBL
  M0QYN2_HUMAN UniProtKB/TrEMBL
  Q9NX18 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-25 SDHAF2  succinate dehydrogenase complex assembly factor 2  PGL2  paraganglioma or familial glomus tumors 2  Data merged from RGD:1351013 737654 PROVISIONAL