MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Paraganglioma (D010235)
..Starting node ..PARAGANGLIOMAS 4 (OMIM:115310)
Child Nodes:
Sister Nodes:
..Carney-Stratakis Syndrome (C564650)
..Paraganglioma, Extra-Adrenal (D010236) 6
..Paragangliomas 2 (C566646)
..Paragangliomas 3 (C565335)
..PARAGANGLIOMAS 4 (OMIM:115310)
..PARAGANGLIOMAS 5 (OMIM:614165)
..Paragangliomas with Sensorineural Hearing Loss (C566831)
..Pheochromocytoma (D010673) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9482

Name:

PARAGANGLIOMAS 4

Definition:

Alternative IDs:

DO:DOID:0050773

ParentIDs:

MESH:D010235

TreeNumbers:

C04.557.465.625.650.700/115310 |C04.557.580.625.650.700/115310

Synonyms:

Slim Mappings:

Cancer

Reference:

MedGen: 115310
MeSH: 115310
OMIM: 115310;
MSeqDR :
Genes: SDHB;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0006748	Adrenal pheochromocytoma
4	HP:0030074	Chemodectoma
5	HP:0006824	Cranial nerve paralysis
6	HP:0011976	Elevated urinary catecholamines
7	HP:0000740	Episodic paroxysmal anxiety
8	HP:0006737	Extraadrenal pheochromocytoma
9	HP:0100723	Gastrointestinal stroma tumor	HP:0040283
10	HP:0003001	Glomus jugular tumor
11	HP:0000975	Hyperhidrosis
12	HP:0002640	Hypertension associated with pheochromocytoma
13	HP:0003829	Incomplete penetrance
14	HP:0003006	Neuroblastoma	HP:0040283
15	HP:0001962	Palpitations
16	HP:0002864	Paraganglioma of head and neck	HP:0040283
17	HP:0008629	Pulsatile tinnitus
18	HP:0002331	Recurrent paroxysmal headache
19	HP:0005584	Renal cell carcinoma
20	HP:0001649	Tachycardia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NC_000001.11:g.(?_17018871)_(17044898_?)del	6390	SDHB	Pathogenic	-1	RCV001033948;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345366	17371393	na	na	-1	-
NC_000001.11:g.(?_17018875)_(17044894_?)del	6390	SDHB	Pathogenic	-1	RCV000537003;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072	1	17345370	17371389	na	na		-	C1861848 115310 Paragangliomas 4;
NC_000001.11:g.(?_17018881)_(17018968_?)dup	6390	SDHB	Uncertain significance	-1	RCV001033052;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345376	17345463	na	na	-1	-
NC_000001.11:g.(?_17018881)_(17054019_?)del	6390	SDHB	Pathogenic	-1	RCV001033008;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345376	17380514	na	na	-1	-
NC_000001.11:g.(?_17018881)_(17054019_?)dup	6390	SDHB	Uncertain significance	-1	RCV001032845;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345376	17380514	na	na	-1	-
NC_000001.10:g.(?_17345376)_(17371393_?)dup	6390	SDHB	Uncertain significance	-1	RCV001295590;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345376	17371393	na	na	-1	-
NC_000001.10:g.(?_17345376)_(17355241_?)dup	6390	SDHB	Uncertain significance	-1	RCV001324551;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345376	17355241	na	na	-1	-
NC_000001.10:g.(?_17345376)_(17345463_?)del	6390	SDHB	Pathogenic	-1	RCV001385634;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345376	17345463	na	na	-1	-
NC_000001.10:g.(?_17345376)_(17371403_?)del	6390	SDHB	Pathogenic	-1	RCV001385635;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345376	17371403	na	na	-1	-
NC_000001.10:g.(?_17345376)_(17359650_?)del	6390	SDHB	Pathogenic	-1	RCV001932317;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345376	17359650	na	na	-1	-
NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)	6390	SDHB	Uncertain significance	-1	RCV001976108;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345383	17345384	GA	AG	17345383	-
NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)	6390	SDHB	Uncertain significance	-1	RCV001993678;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345384	17345384	A	C	17345384	-
NM_003000.3(SDHB):c.831del (p.Ala278fs)	6390	SDHB	Uncertain significance	-1	RCV001893854;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345388	17345388	CT	C	17345387	-
NM_003000.3(SDHB):c.828G>A (p.Lys276=)	6390	SDHB	Likely benign	-1	RCV001475037;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345391	17345391	C	T	17345391	-
NM_003000.3(SDHB):c.823_825del (p.Glu275del)	6390	SDHB	Uncertain significance	rs1221042239	RCV001061121;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345394	17345396	TCTC	T	1:g.17345394_17345396del	-
NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)	6390	SDHB	Uncertain significance	-1	RCV001982839;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345404	17345404	G	A	17345404	-
NM_003000.3(SDHB):c.812C>T (p.Ala271Val)	6390	SDHB	Uncertain significance	rs2077945936	RCV001314208\|RCV001776188;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345407	17345407	G	A	17345407	-
NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)	6390	SDHB	Uncertain significance	rs771388711	RCV000691533;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345418	17345418	C	G	NC_000001.10:g.17345418C>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)	6390	SDHB	Uncertain significance	rs2077946088	RCV001226419;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345420	17345420	T	C	1:g.17345420T>C	-
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)	6390	SDHB	Uncertain significance	-1	RCV001371987;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345426	17345426	C	T	17345426	-
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)	6390	SDHB	Uncertain significance	rs1557738283	RCV000687486;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345428	17345428	G	T	NC_000001.10:g.17345428G>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.790G>A (p.Ala264Thr)	6390	SDHB	Uncertain significance	-1	RCV001892685;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345429	17345429	C	T	17345429	-
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)	6390	SDHB	Likely pathogenic	rs1553176976	RCV000485215\|RCV000696403;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17345431	17345432	A	ATAGC	NC_000001.10:g.17345433_17345436dup	ClinGen:CA16617019	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)	6390	SDHB	Uncertain significance	rs1187293049	RCV001215579;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345441	17345441	C	G	1:g.17345441C>G	-
NM_003000.3(SDHB):c.777A>T (p.Pro259=)	6390	SDHB	Likely benign	-1	RCV001487948;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345442	17345442	T	A	17345442	-
NM_003000.3(SDHB):c.772A>C (p.Asn258His)	6390	SDHB	Uncertain significance	rs2077946345	RCV001347890;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345447	17345447	T	G	17345447	-
NM_003000.3(SDHB):c.766-5T>C	6390	SDHB	Likely benign	-1	RCV001461968;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17345458	17345458	A	G	17345458	-
NM_003000.3(SDHB):c.766-9T>G	6390	SDHB	Likely benign	-1	RCV001474933;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17345462	17345462	A	C	17345462	-
NM_003000.3(SDHB):c.743_765+36del	6390	SDHB	Pathogenic	-1	RCV001999969;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349067	17349125	CTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGT	C	17349066	-
NM_003000.3(SDHB):c.765+13G>A	6390	SDHB	Benign/Likely benign	rs115561881	RCV000245434\|RCV000411316\|RCV002058131;	N	MedGen:CN169374\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	1	17349090	17349090	C	T	NC_000001.10:g.17349090C>T	ClinGen:CA089747	CN169374 not specified;
NC_000001.10:g.(?_17349093)_(17350579_?)del	6390	SDHB	Likely pathogenic	-1	RCV002040406;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349093	17350579	na	na	-1	-
NC_000001.10:g.(?_17349093)_(17380514_?)del	6390	SDHB	Pathogenic	-1	RCV001950764;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349093	17380514	na	na	-1	-
NM_003000.3(SDHB):c.765+8G>T	6390	SDHB	Likely benign	-1	RCV001437867;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349095	17349095	C	A	17349095	-
NM_003000.3(SDHB):c.765+6T>C	6390	SDHB	Uncertain significance	-1	RCV001372335;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349097	17349097	A	G	17349097	-
NM_003000.3(SDHB):c.765+4C>T	6390	SDHB	Uncertain significance	rs776039903	RCV000701556\|RCV001026666;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349099	17349099	G	A	NC_000001.10:g.17349099G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.765+3A>T	6390	SDHB	Uncertain significance	rs2077967877	RCV001039278;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349100	17349100	T	A	1:g.17349100T>A	-
NM_003000.3(SDHB):c.765+1G>A	6390	SDHB	Pathogenic	-1	RCV001384747;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349102	17349102	C	T	17349102	-
NM_003000.3(SDHB):c.760C>G (p.Pro254Ala)	6390	SDHB	Uncertain significance	-1	RCV001932558;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349108	17349108	G	C	17349108	-
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)	6390	SDHB	Likely pathogenic	rs786201085	RCV000162580\|RCV001040032;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H	1	17349110	17349110	C	T	1:g.17349110C>T	ClinGen:CA016171	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.753G>A (p.Arg251=)	6390	SDHB	Likely benign	-1	RCV001437820;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349115	17349115	C	T	17349115	-
NM_003000.3(SDHB):c.752G>A (p.Arg251Lys)	6390	SDHB	Uncertain significance	-1	RCV001890455;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349116	17349116	C	T	17349116	-
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)	6390	SDHB	Uncertain significance	rs1057517537	RCV000412001\|RCV000565120\|RCV000694160\|RCV001823137;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D	1	17349119	17349119	G	A	NC_000001.10:g.17349119G>A	ClinGen:CA16042051	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.746G>C (p.Cys249Ser)	6390	SDHB	Uncertain significance	rs1064794269	RCV001040294;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349122	17349122	C	G	1:g.17349122C>G	-
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)	6390	SDHB	Conflicting interpretations of pathogenicity	rs1131691058	RCV000492396\|RCV001058694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17349124	17349124	G	C	NC_000001.10:g.17349124G>C	ClinGen:CA338270053	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)	6390	SDHB	Uncertain significance	rs2077968083	RCV001323020;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349125	17349125	T	C	17349125	-
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)	6390	SDHB	Uncertain significance	rs2077968110	RCV001236140;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349127	17349127	C	A	1:g.17349127C>A	-
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)	6390	SDHB	Uncertain significance	rs2077968110	RCV001325002;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349127	17349127	C	T	17349127	-
NM_003000.3(SDHB):c.741G>C (p.Met247Ile)	6390	SDHB	Uncertain significance	-1	RCV002002845;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349127	17349127	C	G	17349127	-
NM_003000.3(SDHB):c.738C>T (p.Ile246=)	6390	SDHB	Likely benign	rs1476198465	RCV000866975\|RCV001026362\|RCV001447802;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:290	1	17349130	17349130	G	A	1:g.17349130G>A	-
NM_003000.3(SDHB):c.738C>G (p.Ile246Met)	6390	SDHB	Uncertain significance	-1	RCV002034109;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349130	17349130	G	C	17349130	-
NM_003000.3(SDHB):c.737T>G (p.Ile246Ser)	6390	SDHB	Uncertain significance	rs1570944778	RCV001302135;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349131	17349131	A	C	17349131	-
NM_003000.3(SDHB):c.732C>T (p.His244=)	6390	SDHB	Likely benign	rs1570944785	RCV000925591;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349136	17349136	G	A	1:g.17349136G>A	-
NM_003000.3(SDHB):c.725G>A (p.Arg242His)	6390	SDHB	Pathogenic/Likely pathogenic	rs74315368	RCV000013620\|RCV000013619\|RCV000022778\|RCV000129095\|RCV000183216\|RCV000505354\|RCV000627751\|RCV001836632;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349143	17349143	C	T	1:g.17349143C>T	ClinGen:CA016163,UniProtKB:P21912#VAR_017869,OMIM:185470.0004	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)	6390	SDHB	Pathogenic	rs786203251	RCV000166478\|RCV000461517\|RCV001092589;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17349144	17349144	G	A	1:g.17349144G>A	ClinGen:CA016155	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.718_721del (p.Leu240fs)	6390	SDHB	Pathogenic	rs794728950	RCV000183221\|RCV001026125\|RCV001385644;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:290	1	17349147	17349150	TATAG	T	1:g.17349147_17349150del	ClinGen:CA016135	CN517202 not provided;
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)	6390	SDHB	Pathogenic	rs587781266	RCV000013622\|RCV000013621\|RCV000128877\|RCV001034689\|RCV001797588;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:H	1	17349149	17349152	TAGAG	T	NC_000001.10:g.17349150GA[1]	ClinGen:CA016120,OMIM:185470.0005	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro)	6390	SDHB	Uncertain significance	rs1131691046	RCV000492257\|RCV001856952;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17349149	17349149	A	G	NC_000001.10:g.17349149A>G	ClinGen:CA338270230	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.717T>C (p.Ser239=)	6390	SDHB	Likely benign	-1	RCV001422123;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349151	17349151	A	G	17349151	-
NM_003000.3(SDHB):c.716C>A (p.Ser239Tyr)	6390	SDHB	Uncertain significance	rs201098090	RCV000700844;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349152	17349152	G	T	NC_000001.10:g.17349152G>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.715T>C (p.Ser239Pro)	6390	SDHB	Uncertain significance	-1	RCV001892128;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349153	17349153	A	G	17349153	-
NM_003000.3(SDHB):c.713del (p.Phe238fs)	6390	SDHB	Pathogenic	rs876660642	RCV000221959\|RCV001233559;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17349155	17349155	GA	G	1:g.17349155_17349155del	ClinGen:CA10577669	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.711A>G (p.Pro237=)	6390	SDHB	Likely benign	-1	RCV001475412;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349157	17349157	T	C	17349157	-
NM_003000.3(SDHB):c.710C>T (p.Pro237Leu)	6390	SDHB	Uncertain significance	rs878854579	RCV001337406;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349158	17349158	G	A	17349158	-
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)	6390	SDHB	Conflicting interpretations of pathogenicity	rs186768244	RCV000412414\|RCV000465994\|RCV000571866\|RCV001591047;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype	1	17349159	17349159	G	A	NC_000001.10:g.17349159G>A	ClinGen:CA089715	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.706G>A (p.Asp236Asn)	6390	SDHB	Uncertain significance	rs2077968555	RCV001069271;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349162	17349162	C	T	1:g.17349162C>T	-
NM_003000.3(SDHB):c.705G>A (p.Gln235=)	6390	SDHB	Likely benign	-1	RCV001887236;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349163	17349163	C	T	17349163	-
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)	6390	SDHB	Uncertain significance	rs786202913	RCV000165977\|RCV001056293;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17349167	17349167	A	T	1:g.17349167A>T	ClinGen:CA016109	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.700C>T (p.Leu234=)	6390	SDHB	Likely benign	rs201728852	RCV000279182\|RCV000317866\|RCV000633984\|RCV000568441\|RCV002061161;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM	1	17349168	17349168	G	A	NC_000001.10:g.17349168G>A	ClinGen:CA089712	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)	6390	SDHB	Pathogenic	rs1553177285	RCV000534002;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349171	17349171	T	A	NC_000001.10:g.17349171T>A	ClinGen:CA338270321	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.693G>A (p.Leu231=)	6390	SDHB	Likely benign	-1	RCV001446997;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349175	17349175	C	T	17349175	-
NM_003000.3(SDHB):c.689G>A (p.Arg230His)	6390	SDHB	Pathogenic/Likely pathogenic	rs587782604	RCV000131970\|RCV000183215\|RCV000456660\|RCV000505312\|RCV000660259\|RCV000762865\|RCV001310280;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phen	1	17349179	17349179	C	T	1:g.17349179C>T	ClinGen:CA016085,OMIM:185470.0023	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)	6390	SDHB	Pathogenic	rs587782604	RCV000164275\|RCV000473831\|RCV000522081;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17349179	17349179	C	A	1:g.17349179C>A	ClinGen:CA016097	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)	6390	SDHB	Pathogenic	rs1209914140	RCV000547430;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349182	17349183	T	TCCTCTGTGAAGCG	NC_000001.10:g.17349193_17349194insCGCCTCTGTGAAG	ClinGen:CA521037681	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)	6390	SDHB	Pathogenic	rs762812025	RCV000505318\|RCV000798175\|RCV001025703;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP	1	17349184	17349185	CCT	C	NC_000001.10:g.17349184_17349185delCT	ClinGen:CA089708	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.680C>T (p.Thr227Ile)	6390	SDHB	Uncertain significance	-1	RCV001370670;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349188	17349188	G	A	17349188	-
NM_003000.3(SDHB):c.668_679del (p.Arg223_Phe226del)	6390	SDHB	Uncertain significance	-1	RCV001901000;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349189	17349200	GTGAAGTCATCTC	G	17349188	-
NM_003000.3(SDHB):c.664T>G (p.Ser222Ala)	6390	SDHB	Uncertain significance	-1	RCV001952942;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349204	17349204	A	C	17349204	-
NM_003000.3(SDHB):c.655A>G (p.Met219Val)	6390	SDHB	Uncertain significance	-1	RCV001880338;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349213	17349213	T	C	17349213	-
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)	6390	SDHB	Pathogenic/Likely pathogenic	rs200245469	RCV000162444\|RCV000539362\|RCV000984327\|RCV001528474;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H	1	17349219	17349219	G	A	1:g.17349219G>A	ClinGen:CA016064	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.647A>G (p.Tyr216Cys)	6390	SDHB	Uncertain significance	rs1553177291	RCV000572107\|RCV000633963;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17349221	17349221	T	C	1:g.17349221T>C	ClinGen:CA338270510	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.643-8_643-3del	6390	SDHB	Uncertain significance	rs2077969156	RCV001214438;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349228	17349233	TGGAAAA	T	1:g.17349228_17349233del	-
NM_003000.3(SDHB):c.643-4C>G	6390	SDHB	Likely benign	rs748796588	RCV000922055;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17349229	17349229	G	C	1:g.17349229G>C	-
NM_003000.3(SDHB):c.643-7T>C	6390	SDHB	Likely benign	rs374921867	RCV000937971\|RCV001477352;	N	MedGen:CN517202\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17349232	17349232	A	G	1:g.17349232A>G	-
NM_003000.3(SDHB):c.643-8T>C	6390	SDHB	Likely benign	-1	RCV001426660;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349233	17349233	A	G	17349233	-
NM_003000.3(SDHB):c.643-10G>A	6390	SDHB	Uncertain significance	rs1553177293	RCV000520490\|RCV001042634;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17349235	17349235	C	T	1:g.17349235C>T	ClinGen:CA658656883	CN169374 not specified;
NM_003000.3(SDHB):c.643-17C>T	6390	SDHB	Likely benign	-1	RCV002136172;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17349242	17349242	G	A	17349242	-
NM_003000.3(SDHB):c.642+325C>T	6390	SDHB	Benign	rs2235930	RCV000861647\|RCV001519058;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17350143	17350143	G	A	1:g.17350143G>A	-
NM_003000.3(SDHB):c.642+17T>C	6390	SDHB	Likely benign	rs200597595	RCV000409287\|RCV001571908\|RCV002058845;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MedGen:CN517202\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	1	17350451	17350451	A	G	1:g.17350451A>G	ClinGen:CA089687	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.642+14T>C	6390	SDHB	Likely benign	-1	RCV002109767;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350454	17350454	A	G	17350454	-
NM_003000.3(SDHB):c.642+9C>G	6390	SDHB	Likely benign	-1	RCV002091518;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350459	17350459	G	C	17350459	-
NM_003000.3(SDHB):c.642_642+6del	6390	SDHB	Pathogenic/Likely pathogenic	rs876660368	RCV000215647\|RCV001854690;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17350462	17350468	ACCTCACC	A	1:g.17350462_17350468del	ClinGen:CA10577670	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.642+6G>A	6390	SDHB	Uncertain significance	-1	RCV001359531;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350462	17350462	C	T	17350462	-
NM_003000.3(SDHB):c.642+2T>G	6390	SDHB	Pathogenic/Likely pathogenic	rs1553177424	RCV000519924\|RCV001207024;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17350466	17350466	A	C	1:g.17350466A>C	ClinGen:CA338270919	CN517202 not provided;
NM_003000.3(SDHB):c.642+1G>A	6390	SDHB	Pathogenic	rs1131691052	RCV000505294\|RCV001557208\|RCV001857227;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Pheno	1	17350467	17350467	C	T	NC_000001.10:g.17350467C>T	ClinGen:CA338270921	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.642G>C (p.Gln214His)	6390	SDHB	Uncertain significance	rs1278834014	RCV000505356\|RCV000818248\|RCV001824813;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP	1	17350468	17350468	C	G	NC_000001.10:g.17350468C>G	ClinGen:CA338270924	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)	6390	SDHB	Pathogenic/Likely pathogenic	rs876658461	RCV000215175\|RCV000238597\|RCV000472972\|RCV000657586\|RCV000762866\|RCV001175589;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H	1	17350470	17350470	G	A	1:g.17350470G>A	ClinGen:CA10577671	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.636T>C (p.Leu212=)	6390	SDHB	Likely benign	-1	RCV001473640;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350474	17350474	A	G	17350474	-
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)	6390	SDHB	Conflicting interpretations of pathogenicity	rs1228560456	RCV000565195\|RCV000697509;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17350476	17350476	G	A	1:g.17350476G>A	ClinGen:CA338270937	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.632T>C (p.Val211Ala)	6390	SDHB	Uncertain significance	-1	RCV001902970;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350478	17350478	A	G	17350478	-
NM_003000.3(SDHB):c.631G>A (p.Val211Ile)	6390	SDHB	Uncertain significance	rs2077977582	RCV001039568;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350479	17350479	C	T	1:g.17350479C>T	-
NM_003000.3(SDHB):c.629C>T (p.Ala210Val)	6390	SDHB	Uncertain significance	rs1252727177	RCV001325346\|RCV001751630;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350481	17350481	G	A	17350481	-
NM_003000.3(SDHB):c.626C>G (p.Pro209Arg)	6390	SDHB	Uncertain significance	rs2077977622	RCV001223405;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350484	17350484	G	C	1:g.17350484G>C	-
NM_003000.3(SDHB):c.619C>T (p.Leu207=)	6390	SDHB	Likely benign	rs1570945806	RCV000982552\|RCV001394565;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17350491	17350491	G	A	1:g.17350491G>A	-
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)	6390	SDHB	Pathogenic	rs587782617	RCV000131995\|RCV000633970\|RCV000657287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17350494	17350503	TATTTGTCTCC	T	1:g.17350494_17350503del	ClinGen:CA016035	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.614A>C (p.Lys205Thr)	6390	SDHB	Uncertain significance	-1	RCV001975885;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350496	17350496	T	G	17350496	-
NM_003000.3(SDHB):c.609A>C (p.Gly203=)	6390	SDHB	Likely benign	rs1570945818	RCV001024892\|RCV001402067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17350501	17350501	T	G	1:g.17350501T>G	-
NM_003000.3(SDHB):c.605dup (p.Asn202fs)	6390	SDHB	Pathogenic	rs1131691053	RCV000492713\|RCV001036821;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17350504	17350505	G	GT	1:g.17350504_17350505insT	ClinGen:CA645369143	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)	6390	SDHB	Uncertain significance	rs2077977917	RCV001229296;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350507	17350507	C	G	1:g.17350507C>G	-
NM_003000.3(SDHB):c.601T>C (p.Trp201Arg)	6390	SDHB	Uncertain significance	-1	RCV002042891;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350509	17350509	A	G	17350509	-
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)	6390	SDHB	Pathogenic/Likely pathogenic	rs397516836	RCV000037723\|RCV000492138\|RCV000660257\|RCV001852786;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OM	1	17350510	17350510	C	T	1:g.17350510C>T	ClinGen:CA016011	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)	6390	SDHB	Pathogenic	rs397516836	RCV000162460\|RCV000462889\|RCV000505334\|RCV001577788\|RCV001523819;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H	1	17350510	17350510	C	A	1:g.17350510C>A	ClinGen:CA016022	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)	6390	SDHB	Likely pathogenic	rs1557739966	RCV000693104\|RCV001024760;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350512	17350512	A	G	NC_000001.10:g.17350512A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.598del (p.Trp200fs)	6390	SDHB	Pathogenic	-1	RCV001934749;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350512	17350512	CA	C	17350511	-
NM_003000.3(SDHB):c.593G>T (p.Ser198Ile)	6390	SDHB	Uncertain significance	-1	RCV001871293;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350517	17350517	C	A	17350517	-
NM_003000.3(SDHB):c.592A>C (p.Ser198Arg)	6390	SDHB	Uncertain significance	rs2077978250	RCV001062177;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350518	17350518	T	G	1:g.17350518T>G	-
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)	6390	SDHB	Pathogenic/Likely pathogenic	rs74315367	RCV000013617\|RCV000030623\|RCV000213984\|RCV000465474\|RCV001810856;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OM	1	17350520	17350520	G	C	1:g.17350520G>C	ClinGen:CA016001,UniProtKB:P21912#VAR_017868,OMIM:185470.0002	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)	6390	SDHB	Uncertain significance	rs2077978300	RCV001048320;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350521	17350521	G	A	1:g.17350521G>A	-
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)	6390	SDHB	Pathogenic	rs876658367	RCV000220162\|RCV000461924\|RCV000505388\|RCV000479413\|RCV001034642;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,Me	1	17350523	17350523	C	T	1:g.17350523C>T	ClinGen:CA10577672,UniProtKB:P21912#VAR_035067	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg)	6390	SDHB	Likely pathogenic	-1	RCV002019589;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350524	17350524	A	G	17350524	-
NM_003000.3(SDHB):c.582C>T (p.Thr194=)	6390	SDHB	Likely benign	rs775450654	RCV000874457\|RCV001024576;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350528	17350528	G	A	1:g.17350528G>A	-
NM_003000.3(SDHB):c.582C>G (p.Thr194=)	6390	SDHB	Likely benign	rs775450654	RCV000873549\|RCV001505782;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17350528	17350528	G	C	1:g.17350528G>C	-
NM_003000.3(SDHB):c.578G>A (p.Ser193Asn)	6390	SDHB	Uncertain significance	rs2077978395	RCV001309362;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350532	17350532	C	T	17350532	-
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)	6390	SDHB	Uncertain significance	-1	RCV002011566;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350541	17350541	G	A	17350541	-
NM_003000.3(SDHB):c.568G>A (p.Ala190Thr)	6390	SDHB	Uncertain significance	rs199789177	RCV001305161;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350542	17350542	C	T	17350542	-
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp)	6390	SDHB	Likely pathogenic	-1	RCV002026727;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350543	17350543	A	C	17350543	-
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)	6390	SDHB	Uncertain significance	rs2077978513	RCV001224869;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350545	17350545	A	G	1:g.17350545A>G	-
NM_003000.3(SDHB):c.564C>T (p.Leu188=)	6390	SDHB	Likely benign	-1	RCV001413806;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350546	17350546	G	A	17350546	-
NM_003000.3(SDHB):c.562C>A (p.Leu188Ile)	6390	SDHB	Uncertain significance	-1	RCV001942759;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350548	17350548	G	T	17350548	-
NM_003000.3(SDHB):c.550T>C (p.Tyr184His)	6390	SDHB	Uncertain significance	rs1553177442	RCV000563200\|RCV001215617;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17350560	17350560	A	G	1:g.17350560A>G	ClinGen:CA338271439	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)	6390	SDHB	Uncertain significance	rs1557740003	RCV000703565\|RCV001543112;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350563	17350563	G	A	NC_000001.10:g.17350563G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)	6390	SDHB	Uncertain significance	rs1570945931	RCV001024138\|RCV001337551;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17350565	17350565	C	G	1:g.17350565C>G	-
NM_003000.3(SDHB):c.541-30_541-2dup	6390	SDHB	Likely benign	-1	RCV001413898;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17350570	17350571	C	CTGTATGGGGAGAAAAGAGAGGCAGGAGCT	17350570	-
NM_003000.3(SDHB):c.541-2A>G	6390	SDHB	Pathogenic/Likely pathogenic	rs786201161	RCV000162804\|RCV000374774\|RCV000523104\|RCV000505364\|RCV000797086;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN239418\|MedGen:CN517202\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:	1	17350571	17350571	T	C	1:g.17350571T>C	ClinGen:CA015950	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.541-3C>A	6390	SDHB	Uncertain significance	-1	RCV001926312;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350572	17350572	G	T	17350572	-
NM_003000.3(SDHB):c.541-5T>C	6390	SDHB	Likely benign	-1	RCV001482884;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350574	17350574	A	G	17350574	-
NM_003000.3(SDHB):c.541-7C>G	6390	SDHB	Likely benign	-1	RCV001431561;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350576	17350576	G	C	17350576	-
NM_003000.3(SDHB):c.541-9C>T	6390	SDHB	Likely benign	rs755367242	RCV000841519\|RCV001472872;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen	1	17350578	17350578	G	A	1:g.17350578G>A	-
NM_003000.3(SDHB):c.541-10C>T	6390	SDHB	Likely benign	rs200004039	RCV000827259\|RCV001087443;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17350579	17350579	G	A	1:g.17350579G>A	-
NM_003000.3(SDHB):c.541-19C>G	6390	SDHB	Likely benign	-1	RCV002164349;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17350588	17350588	G	C	17350588	-
NM_003000.3(SDHB):c.540+15T>C	6390	SDHB	Likely benign	-1	RCV002173858;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354229	17354229	A	G	17354229	-
NM_003000.3(SDHB):c.540_540+13del	6390	SDHB	Likely pathogenic	rs1553177666	RCV000551202\|RCV001378111;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:	1	17354231	17354244	TAGGGACTAATGACC	T	1:g.17354231_17354244del	ClinGen:CA658656888	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.540+13T>C	6390	SDHB	Likely benign	-1	RCV002182154;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354231	17354231	A	G	17354231	-
NM_003000.3(SDHB):c.540+12C>T	6390	SDHB	Likely benign	-1	RCV002117261;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354232	17354232	G	A	17354232	-
NM_003000.3(SDHB):c.540+12C>G	6390	SDHB	Likely benign	-1	RCV002122049;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354232	17354232	G	C	17354232	-
NC_000001.10:g.(?_17354234)_(17359650_?)dup	6390	SDHB	Likely pathogenic	-1	RCV002016090;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354234	17359650	na	na	-1	-
NM_003000.3(SDHB):c.540+8G>A	6390	SDHB	Likely benign	-1	RCV001478694;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354236	17354236	C	T	17354236	-
NM_003000.3(SDHB):c.540+5T>C	6390	SDHB	Uncertain significance	rs1557741072	RCV000701546;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354239	17354239	A	G	1:g.17354239A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.540+1G>A	6390	SDHB	Likely pathogenic	rs1553177667	RCV000527325\|RCV001376794;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:	1	17354243	17354243	C	T	NC_000001.10:g.17354243C>T	ClinGen:CA338272394	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.534G>A (p.Glu178=)	6390	SDHB	Likely benign	-1	RCV001463805;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354250	17354250	C	T	17354250	-
NM_003000.3(SDHB):c.533A>T (p.Glu178Val)	6390	SDHB	Uncertain significance	-1	RCV002001471;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354251	17354251	T	A	17354251	-
NM_003000.3(SDHB):c.532G>C (p.Glu178Gln)	6390	SDHB	Uncertain significance	rs2077999285	RCV001340290;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354252	17354252	C	G	17354252	-
NM_003000.3(SDHB):c.523dup (p.Glu175fs)	6390	SDHB	Pathogenic	rs2077999421	RCV001223247;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354260	17354261	T	TC	1:g.17354260_17354261insC	-
NM_003000.3(SDHB):c.524A>G (p.Glu175Gly)	6390	SDHB	Uncertain significance	-1	RCV002023920;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354260	17354260	T	C	17354260	-
NM_003000.3(SDHB):c.522A>G (p.Ile174Met)	6390	SDHB	Uncertain significance	-1	RCV002019841;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354262	17354262	T	C	17354262	-
NM_003000.3(SDHB):c.519C>T (p.Ser173=)	6390	SDHB	Likely benign	-1	RCV001463363;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354265	17354265	G	A	17354265	-
NM_003000.3(SDHB):c.513G>A (p.Leu171=)	6390	SDHB	Likely benign	-1	RCV002163117;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354271	17354271	C	T	17354271	-
NM_003000.3(SDHB):c.507G>A (p.Gln169=)	6390	SDHB	Likely benign	-1	RCV001436012;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354277	17354277	C	T	17354277	-
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)	6390	SDHB	Pathogenic	rs1553177677	RCV000525973\|RCV001383002;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:	1	17354282	17354282	G	A	1:g.17354282G>A	ClinGen:CA338272662	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.501G>A (p.Lys167=)	6390	SDHB	Likely benign	rs1570947881	RCV000935993\|RCV001411781;	N	MedGen:CN517202\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17354283	17354283	C	T	1:g.17354283C>T	-
NM_003000.3(SDHB):c.492G>A (p.Gln164=)	6390	SDHB	Likely benign	-1	RCV002140963;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354292	17354292	C	T	17354292	-
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)	6390	SDHB	Uncertain significance	-1	RCV002013250;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354296	17354296	G	T	17354296	-
NM_003000.3(SDHB):c.484G>T (p.Glu162Ter)	6390	SDHB	Pathogenic	-1	RCV001918002;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354300	17354300	C	A	17354300	-
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)	6390	SDHB	Uncertain significance	rs1049317868	RCV000564159\|RCV000803790\|RCV001194403;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17354302	17354302	T	C	NC_000001.10:g.17354302T>C	ClinGen:CA18665939	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)	6390	SDHB	Uncertain significance	rs2077999799	RCV001229816;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354305	17354305	T	G	1:g.17354305T>G	-
NM_003000.3(SDHB):c.470T>C (p.Leu157Ser)	6390	SDHB	Uncertain significance	rs2077999812	RCV001035371;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354314	17354314	A	G	1:g.17354314A>G	-
NM_003000.3(SDHB):c.466del (p.Tyr156fs)	6390	SDHB	Pathogenic	-1	RCV001382459;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354318	17354318	TA	T	17354317	-
NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)	6390	SDHB	Uncertain significance	rs1396860069	RCV001057543;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354326	17354326	A	G	1:g.17354326A>G	-
NM_003000.3(SDHB):c.457A>G (p.Ile153Val)	6390	SDHB	Uncertain significance	rs1450956956	RCV000565320\|RCV001060686;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17354327	17354327	T	C	1:g.17354327T>C	ClinGen:CA338273114	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)	6390	SDHB	Uncertain significance	rs1450956956	RCV000699660;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354327	17354327	T	A	1:g.17354327T>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.453A>G (p.Lys151=)	6390	SDHB	Likely benign	rs1570947967	RCV000976943\|RCV001463601;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17354331	17354331	T	C	1:g.17354331T>C	-
NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter)	6390	SDHB	Pathogenic	-1	RCV001981499;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354334	17354334	G	C	17354334	-
NM_003000.3(SDHB):c.448T>C (p.Tyr150His)	6390	SDHB	Uncertain significance	-1	RCV001984083;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354336	17354336	A	G	17354336	-
NM_003000.3(SDHB):c.447G>T (p.Gln149His)	6390	SDHB	Uncertain significance	-1	RCV001874938;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354337	17354337	C	A	17354337	-
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)	6390	SDHB	Pathogenic	-1	RCV001899634;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354337	17354338	C	CTG	17354337	-
NM_003000.3(SDHB):c.442G>A (p.Ala148Thr)	6390	SDHB	Uncertain significance	rs2078000133	RCV001295161;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354342	17354342	C	T	17354342	-
NM_003000.3(SDHB):c.440A>T (p.Tyr147Phe)	6390	SDHB	Uncertain significance	rs774568101	RCV001022440\|RCV001042955;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17354344	17354344	T	A	1:g.17354344T>A	-
NM_003000.3(SDHB):c.438C>A (p.Phe146Leu)	6390	SDHB	Uncertain significance	rs1570948017	RCV001022404\|RCV001873356;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17354346	17354346	G	T	1:g.17354346G>T	-
NM_003000.3(SDHB):c.438C>G (p.Phe146Leu)	6390	SDHB	Uncertain significance	rs1570948017	RCV001213150;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354346	17354346	G	C	1:g.17354346G>C	-
NM_003000.3(SDHB):c.437T>C (p.Phe146Ser)	6390	SDHB	Uncertain significance	-1	RCV001904292;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354347	17354347	A	G	17354347	-
NM_003000.3(SDHB):c.427T>A (p.Leu143Met)	6390	SDHB	Uncertain significance	rs1570948034	RCV001022207\|RCV001070335;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17354357	17354357	A	T	1:g.17354357A>T	-
NM_003000.3(SDHB):c.425A>T (p.Asp142Val)	6390	SDHB	Uncertain significance	rs759709073	RCV000685060;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354359	17354359	T	A	1:g.17354359T>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.425A>G (p.Asp142Gly)	6390	SDHB	Uncertain significance	-1	RCV002021903;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354359	17354359	T	C	17354359	-
NM_003000.3(SDHB):c.424-1G>A	6390	SDHB	Pathogenic/Likely pathogenic	rs1131691060	RCV000492109\|RCV001244653;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17354361	17354361	C	T	1:g.17354361C>T	ClinGen:CA338273531	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.424-3C>G	6390	SDHB	Uncertain significance	rs1557741166	RCV000701874;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354363	17354363	G	C	1:g.17354363G>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.424-7A>C	6390	SDHB	Likely benign	rs1570948064	RCV000982178\|RCV001499796;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17354367	17354367	T	G	1:g.17354367T>G	-
NM_003000.3(SDHB):c.424-14_424-9dup	6390	SDHB	Likely benign	rs1064794554	RCV000481304\|RCV000662623\|RCV002060795;	N	MedGen:CN169374\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17354368	17354369	T	TAAGAGG	1:g.17354368_17354369insAAGAGG	ClinGen:CA16617022	CN169374 not specified;
NM_003000.3(SDHB):c.424-17_424-9del	6390	SDHB	Likely benign	-1	RCV001413380;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354369	17354377	TAAGAGGAAG	T	17354368	-
NM_003000.3(SDHB):c.424-13_424-11dup	6390	SDHB	Likely benign	-1	RCV002126305;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354370	17354371	A	AGAG	17354370	-
NM_003000.3(SDHB):c.424-37TTC[6]	6390	SDHB	Conflicting interpretations of pathogenicity	rs34261028	RCV000243274\|RCV000307606\|RCV000402739\|RCV001517903\|RCV001580091;	N	MedGen:CN169374\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenot	1	17354374	17354379	GGAAGAA	G	1:g.17354374_17354379del	ClinGen:CA637817	CN169374 not specified;
NM_003000.3(SDHB):c.424-37TTC[5]	6390	SDHB	Likely benign	-1	RCV002177729;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17354374	17354382	GGAAGAAGAA	G	17354373	-
NM_003000.3(SDHB):c.424-19T>C	6390	SDHB	Likely benign	-1	RCV002160119;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354379	17354379	A	G	17354379	-
NM_003000.3(SDHB):c.424-20C>A	6390	SDHB	Likely benign	-1	RCV002122386;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17354380	17354380	G	T	17354380	-
NM_003000.3(SDHB):c.423+11G>T	6390	SDHB	Likely benign	-1	RCV002078476;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355084	17355084	C	A	17355084	-
NM_003000.3(SDHB):c.423+10T>G	6390	SDHB	Likely benign	-1	RCV002144695;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355085	17355085	A	C	17355085	-
NM_003000.3(SDHB):c.423+8T>G	6390	SDHB	Likely benign	-1	RCV001487864;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355087	17355087	A	C	17355087	-
NM_003000.3(SDHB):c.423+7T>C	6390	SDHB	Likely benign	-1	RCV001452277;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355088	17355088	A	G	17355088	-
NM_003000.3(SDHB):c.423+1G>A	6390	SDHB	Pathogenic	rs398122805	RCV000022779\|RCV000163600\|RCV000505379\|RCV000481826\|RCV000627750\|RCV000762867;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,Me	1	17355094	17355094	C	T	1:g.17355094C>T	ClinGen:CA015862,OMIM:185470.0019	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)	6390	SDHB	Uncertain significance	rs1553177734	RCV001340975;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355096	17355096	G	A	17355096	-
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	6390	SDHB	Pathogenic/Likely pathogenic	rs267607032	RCV000013634\|RCV000132167\|RCV000505751\|RCV000505378\|RCV000627753;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,Me	1	17355100	17355100	C	A	1:g.17355100C>A	ClinGen:CA015853,OMIM:185470.0016	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.417T>C (p.Leu139=)	6390	SDHB	Likely benign	rs1570948513	RCV000866777\|RCV001456318;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17355101	17355101	A	G	1:g.17355101A>G	-
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)	6390	SDHB	Likely pathogenic	rs786203529	RCV000166877\|RCV001729423\|RCV001850356;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen	1	17355106	17355106	C	A	1:g.17355106C>A	ClinGen:CA015837	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.411G>A (p.Lys137=)	6390	SDHB	Likely benign	-1	RCV002156459;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355107	17355107	C	T	17355107	-
NM_003000.3(SDHB):c.407T>G (p.Ile136Arg)	6390	SDHB	Uncertain significance	rs2078004335	RCV001313359;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355111	17355111	A	C	17355111	-
NM_003000.3(SDHB):c.406A>G (p.Ile136Val)	6390	SDHB	Uncertain significance	rs2078004347	RCV001217089;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355112	17355112	T	C	1:g.17355112T>C	-
NM_003000.3(SDHB):c.405G>A (p.Val135=)	6390	SDHB	Likely benign	-1	RCV002191385;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355113	17355113	C	T	17355113	-
NM_003000.3(SDHB):c.402T>C (p.Tyr134=)	6390	SDHB	Likely benign	-1	RCV001430670;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355116	17355116	A	G	17355116	-
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)	6390	SDHB	Uncertain significance	rs200893429	RCV001065903;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355117	17355117	T	C	1:g.17355117T>C	-
NM_003000.3(SDHB):c.399dup (p.Tyr134fs)	6390	SDHB	Pathogenic	rs1557741425	RCV000702806;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355118	17355119	A	AC	1:g.17355118_17355119insC	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.400T>C (p.Tyr134His)	6390	SDHB	Uncertain significance	rs771004483	RCV001021652\|RCV001036784;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17355118	17355118	A	G	1:g.17355118A>G	-
NM_003000.3(SDHB):c.399G>T (p.Met133Ile)	6390	SDHB	Uncertain significance	-1	RCV001961375;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355119	17355119	C	A	17355119	-
NM_003000.3(SDHB):c.398T>C (p.Met133Thr)	6390	SDHB	Uncertain significance	rs553392349	RCV000690466;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355120	17355120	A	G	1:g.17355120A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.395A>C (p.His132Pro)	6390	SDHB	Pathogenic/Likely pathogenic	rs74315372	RCV000013628\|RCV001021521\|RCV001857343;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H	1	17355123	17355123	T	G	1:g.17355123T>G	ClinGen:CA015817,UniProtKB:P21912#VAR_037621,OMIM:185470.0010	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.392del (p.Pro131fs)	6390	SDHB	Pathogenic	rs1553177739	RCV000505383\|RCV001228851;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP	1	17355126	17355126	TG	T	1:g.17355126_17355126del	ClinGen:CA645509069	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.392C>T (p.Pro131Leu)	6390	SDHB	Uncertain significance	-1	RCV001884875;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355126	17355126	G	A	17355126	-
NM_003000.3(SDHB):c.388C>T (p.Leu130Phe)	6390	SDHB	Uncertain significance	-1	RCV001917706;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355130	17355130	G	A	17355130	-
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser)	6390	SDHB	Uncertain significance	rs1553177740	RCV001021307\|RCV001246876;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17355133	17355133	G	A	1:g.17355133G>A	-
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	6390	SDHB	Pathogenic/Likely pathogenic	rs786201095	RCV000162628\|RCV000170330\|RCV000464351\|RCV000505708\|RCV000660256\|RCV000780706\|RCV000826205;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011424,MedGen:C1858592,OMIM:604287, Orphanet:139411\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGe	1	17355138	17355138	A	C	1:g.17355138A>C	ClinGen:CA015797	C1858592 604287 Carney triad;
NM_003000.3(SDHB):c.379A>G (p.Ile127Val)	6390	SDHB	Uncertain significance	rs201372280	RCV001064015;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355139	17355139	T	C	1:g.17355139T>C	-
NM_003000.3(SDHB):c.375A>G (p.Ser125=)	6390	SDHB	Likely benign	-1	RCV002168546;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355143	17355143	T	C	17355143	-
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)	6390	SDHB	Pathogenic	rs786203506	RCV000166840\|RCV001054765;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17355144	17355144	G	T	1:g.17355144G>T	ClinGen:CA015788	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)	6390	SDHB	Uncertain significance	rs1557741456	RCV000692699;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355147	17355147	A	G	NC_000001.10:g.17355147A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.370G>A (p.Val124Ile)	6390	SDHB	Uncertain significance	rs978525560	RCV001350477;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355148	17355148	C	T	17355148	-
NM_003000.3(SDHB):c.368A>C (p.Lys123Thr)	6390	SDHB	Uncertain significance	rs1557741464	RCV000687226\|RCV001543131;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355150	17355150	T	G	NC_000001.10:g.17355150T>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.368A>G (p.Lys123Arg)	6390	SDHB	Uncertain significance	-1	RCV001370672;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355150	17355150	T	C	17355150	-
NM_003000.3(SDHB):c.365A>G (p.Asn122Ser)	6390	SDHB	Uncertain significance	rs1557741472	RCV001020819\|RCV001067820;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17355153	17355153	T	C	1:g.17355153T>C	-
NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)	6390	SDHB	Uncertain significance	rs775925040	RCV001020760\|RCV001071144\|RCV001759706;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17355156	17355156	A	G	1:g.17355156A>G	-
NM_003000.3(SDHB):c.361C>T (p.Leu121Phe)	6390	SDHB	Uncertain significance	rs1194401420	RCV000691221;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355157	17355157	G	A	1:g.17355157G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.356C>A (p.Thr119Asn)	6390	SDHB	Uncertain significance	rs11541234	RCV000693366;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355162	17355162	G	T	NC_000001.10:g.17355162G>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.351T>A (p.Ile117=)	6390	SDHB	Likely benign	-1	RCV001435681;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355167	17355167	A	T	17355167	-
NM_003000.3(SDHB):c.347G>T (p.Arg116Met)	6390	SDHB	Uncertain significance	-1	RCV002025228;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355171	17355171	C	A	17355171	-
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)	6390	SDHB	Pathogenic	rs751000085	RCV000178185\|RCV000505340\|RCV000627752\|RCV001507023;	N	MedGen:CN517202\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Pheno	1	17355175	17355175	G	A	1:g.17355175G>A	ClinGen:CA015763	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly)	6390	SDHB	Uncertain significance	-1	RCV001982237;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355175	17355175	G	C	17355175	-
NM_003000.3(SDHB):c.342C>T (p.Thr114=)	6390	SDHB	Likely benign	rs528599830	RCV000975653\|RCV001483453;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17355176	17355176	G	A	1:g.17355176G>A	-
NM_003000.3(SDHB):c.340A>G (p.Thr114Ala)	6390	SDHB	Uncertain significance	-1	RCV001961962;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355178	17355178	T	C	17355178	-
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)	6390	SDHB	Uncertain significance	rs2078005043	RCV001224418;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355181	17355181	A	C	1:g.17355181A>C	-
NM_003000.3(SDHB):c.336T>C (p.Ala112=)	6390	SDHB	Likely benign	-1	RCV001422202;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355182	17355182	A	G	17355182	-
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)	6390	SDHB	Conflicting interpretations of pathogenicity	rs1570948631	RCV001020007\|RCV001873325;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17355186	17355186	A	G	1:g.17355186A>G	-
NM_003000.3(SDHB):c.331C>G (p.Leu111Val)	6390	SDHB	Uncertain significance	rs2078005090	RCV001226209;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355187	17355187	G	C	1:g.17355187G>C	-
NM_003000.3(SDHB):c.330T>C (p.Thr110=)	6390	SDHB	Likely benign	-1	RCV001476662;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17355188	17355188	A	G	17355188	-
NM_003000.3(SDHB):c.328A>T (p.Thr110Ser)	6390	SDHB	Uncertain significance	rs1407350591	RCV001302229;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355190	17355190	T	A	17355190	-
NM_003000.3(SDHB):c.316A>G (p.Asn106Asp)	6390	SDHB	Uncertain significance	rs1557741510	RCV000690510;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355202	17355202	T	C	1:g.17355202T>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.312C>T (p.Asn104=)	6390	SDHB	Likely benign	rs876660346	RCV000222005\|RCV000938642;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17355206	17355206	G	A	1:g.17355206G>A	ClinGen:CA10577677	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)	6390	SDHB	Pathogenic	rs786201316	RCV000163361\|RCV000801474\|RCV001781508;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H	1	17355207	17355207	T	CC	NC_000001.10:g.17355207delinsCC	ClinGen:CA188076	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)	6390	SDHB	Likely pathogenic	rs878854576	RCV000232854\|RCV000492765\|RCV001377867;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H	1	17355222	17355222	C	T	1:g.17355222C>T	ClinGen:CA10581747	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)	6390	SDHB	Likely pathogenic	rs1553177769	RCV000567029\|RCV000693661;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17355229	17355229	T	A	1:g.17355229T>A	ClinGen:CA338275267	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)	6390	SDHB	Conflicting interpretations of pathogenicity	rs778952116	RCV000492591\|RCV000633945\|RCV000505304\|RCV000660255;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17355231	17355231	C	T	1:g.17355231C>T	ClinGen:CA089580	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.287G>T (p.Gly96Val)	6390	SDHB	Uncertain significance	-1	RCV001372333;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355231	17355231	C	A	17355231	-
NM_003000.3(SDHB):c.287-1G>C	6390	SDHB	Pathogenic/Likely pathogenic	rs397516833	RCV000037719\|RCV000128907\|RCV000332692\|RCV000478921\|RCV000633965;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,Me	1	17355232	17355232	C	G	1:g.17355232C>G	ClinGen:CA015712	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.287-2A>G	6390	SDHB	Pathogenic	rs1064794270	RCV000486186\|RCV000492665\|RCV001195795\|RCV001203212;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:448	1	17355233	17355233	T	C	1:g.17355233T>C	ClinGen:CA16617023	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.287-3C>G	6390	SDHB	Uncertain significance	rs1553177772	RCV000505289\|RCV001215683;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP	1	17355234	17355234	G	C	NC_000001.10:g.17355234G>C	ClinGen:CA645509071	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.287-4del	6390	SDHB	Likely benign	-1	RCV002187428;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355235	17355235	GA	G	17355234	-
NM_003000.3(SDHB):c.287-11G>A	6390	SDHB	Likely benign	-1	RCV002182323;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355242	17355242	C	T	17355242	-
NM_003000.3(SDHB):c.287-12T>C	6390	SDHB	Likely benign	-1	RCV002093588;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355243	17355243	A	G	17355243	-
NM_003000.3(SDHB):c.287-16T>C	6390	SDHB	Likely benign	-1	RCV002181799;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17355247	17355247	A	G	17355247	-
NM_003000.3(SDHB):c.287-26A>G	6390	SDHB	Likely benign	rs201397253	RCV000209378\|RCV000412023;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072	1	17355257	17355257	T	C	1:g.17355257T>C	ClinGen:CA089570	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.201-4429_287-934del	6390	SDHB	Pathogenic	-1	RCV000626322;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072	1	17356165	17364069	TGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTAC	T	NC_000001.10:g.17356166_17364070del	ClinGen:CA658798041,OMIM:185470.0021	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.286+15C>T	6390	SDHB	Likely benign	-1	RCV002200568;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359540	17359540	G	A	17359540	-
NM_003000.3(SDHB):c.286+7A>G	6390	SDHB	Likely benign	-1	RCV002175011;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359548	17359548	T	C	17359548	-
NM_003000.3(SDHB):c.286+5G>A	6390	SDHB	Uncertain significance	rs768966871	RCV001340713;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359550	17359550	C	T	17359550	-
NM_003000.3(SDHB):c.286+5G>C	6390	SDHB	Uncertain significance	-1	RCV001863761;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359550	17359550	C	G	17359550	-
NM_003000.3(SDHB):c.286+3G>A	6390	SDHB	Uncertain significance	rs2078031816	RCV001233715;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359552	17359552	C	T	1:g.17359552C>T	-
NM_003000.3(SDHB):c.286+2T>A	6390	SDHB	Pathogenic	rs587781270	RCV000128905\|RCV000481752\|RCV000475161\|RCV000505293\|RCV000660254;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:290	1	17359553	17359553	A	T	1:g.17359553A>T	ClinGen:CA015691	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.286+1G>A	6390	SDHB	Pathogenic	rs786201063	RCV000162475\|RCV000505373\|RCV000633969\|RCV001541605;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGe	1	17359554	17359554	C	T	1:g.17359554C>T	ClinGen:CA015681	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)	6390	SDHB	Pathogenic/Likely pathogenic	rs587782243	RCV000130946\|RCV000459169\|RCV000489952\|RCV000505332;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17359555	17359555	C	T	1:g.17359555C>T	ClinGen:CA015701	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys)	6390	SDHB	Likely pathogenic	-1	RCV001973450;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17359555	17359555	C	A	17359555	-
NM_003000.3(SDHB):c.282A>C (p.Arg94Ser)	6390	SDHB	Uncertain significance	-1	RCV001995947;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359559	17359559	T	G	17359559	-
NM_003000.3(SDHB):c.280A>G (p.Arg94Gly)	6390	SDHB	Uncertain significance	rs2078031878	RCV001347165;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359561	17359561	T	C	17359561	-
NM_003000.3(SDHB):c.279C>T (p.Cys93=)	6390	SDHB	Likely benign	-1	RCV001489636;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17359562	17359562	G	A	17359562	-
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)	6390	SDHB	Uncertain significance	rs2078031940	RCV001312656;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17359569	17359569	C	T	17359569	-
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)	6390	SDHB	Conflicting interpretations of pathogenicity	rs570278423	RCV000492424\|RCV000550029\|RCV000782211\|RCV001004837\|RCV001778775;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17359572	17359572	C	T	1:g.17359572C>T	ClinGen:CA015654	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)	6390	SDHB	Uncertain significance	-1	RCV001984232;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17359572	17359572	C	A	17359572	-
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	6390	SDHB	Pathogenic	rs74315366	RCV000013616\|RCV000030621\|RCV000037718\|RCV000183211\|RCV000215883\|RCV000627749\|RCV000763272;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353,Orph	1	17359573	17359573	G	A	1:g.17359573G>A	ClinGen:CA015643,OMIM:185470.0001	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)	6390	SDHB	Uncertain significance	rs74315366	RCV000165299\|RCV001217636;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17359573	17359573	G	C	1:g.17359573G>C	ClinGen:CA015636	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.267C>T (p.Phe89=)	6390	SDHB	Likely benign	rs1553178042	RCV000918990\|RCV001462201;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen	1	17359574	17359574	G	A	1:g.17359574G>A	-
NM_003000.3(SDHB):c.264C>T (p.Thr88=)	6390	SDHB	Likely benign	-1	RCV002144047;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359577	17359577	G	A	17359577	-
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)	6390	SDHB	Uncertain significance	rs1427902008	RCV001346285;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359589	17359589	G	T	17359589	-
NM_003000.3(SDHB):c.252C>T (p.Asp84=)	6390	SDHB	Likely benign	-1	RCV001424752;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359589	17359589	G	A	17359589	-
NM_003000.3(SDHB):c.250G>A (p.Asp84Asn)	6390	SDHB	Uncertain significance	rs2078032193	RCV001227783;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17359591	17359591	C	T	1:g.17359591C>T	-
NM_003000.3(SDHB):c.248T>G (p.Val83Gly)	6390	SDHB	Uncertain significance	rs763547482	RCV001038662;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359593	17359593	A	C	1:g.17359593A>C	-
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)	6390	SDHB	Pathogenic	-1	RCV001946720;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359594	17359595	C	CTTCA	17359594	-
NM_003000.3(SDHB):c.243T>C (p.Asn81=)	6390	SDHB	Likely benign	-1	RCV001452676;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359598	17359598	A	G	17359598	-
NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)	6390	SDHB	Uncertain significance	rs1315623287	RCV001070345;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359600	17359600	T	A	1:g.17359600T>A	-
NM_003000.3(SDHB):c.238A>G (p.Lys80Glu)	6390	SDHB	Conflicting interpretations of pathogenicity	rs1131691051	RCV000492648\|RCV001221061;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17359603	17359603	T	C	1:g.17359603T>C	ClinGen:CA338276567	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.237T>G (p.Ile79Met)	6390	SDHB	Uncertain significance	rs2078032308	RCV001223003;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359604	17359604	A	C	1:g.17359604A>C	-
NM_003000.3(SDHB):c.232A>G (p.Lys78Glu)	6390	SDHB	Uncertain significance	-1	RCV001919570;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359609	17359609	T	C	17359609	-
NM_003000.3(SDHB):c.217T>C (p.Leu73=)	6390	SDHB	Likely benign	-1	RCV001423895;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359624	17359624	A	G	17359624	-
NM_003000.3(SDHB):c.216A>G (p.Val72=)	6390	SDHB	Likely benign	rs1570951479	RCV000983032\|RCV001409181;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17359625	17359625	T	C	1:g.17359625T>C	-
NM_003000.3(SDHB):c.210dup (p.Met71fs)	6390	SDHB	Pathogenic	rs794728947	RCV000183218\|RCV000216710\|RCV000796858;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:290	1	17359630	17359631	T	TG	NC_000001.10:g.17359634dup	ClinGen:CA308154	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.211A>G (p.Met71Val)	6390	SDHB	Uncertain significance	rs1557742895	RCV001014325\|RCV001210128\|RCV001786426;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17359630	17359630	T	C	1:g.17359630T>C	-
NM_003000.3(SDHB):c.208C>T (p.Pro70Ser)	6390	SDHB	Uncertain significance	-1	RCV001925341;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17359633	17359633	G	A	17359633	-
NM_003000.3(SDHB):c.207C>T (p.Gly69=)	6390	SDHB	Likely benign	-1	RCV002147741;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359634	17359634	G	A	17359634	-
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)	6390	SDHB	Conflicting interpretations of pathogenicity	rs587782904	RCV000132547\|RCV000548841;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17359638	17359638	C	T	1:g.17359638C>T	ClinGen:CA015598	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.202T>C (p.Cys68Arg)	6390	SDHB	Uncertain significance	-1	RCV001932073;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17359639	17359639	A	G	17359639	-
NM_003000.3(SDHB):c.201-10T>C	6390	SDHB	Likely benign	-1	RCV002193655;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359650	17359650	A	G	17359650	-
NM_003000.3(SDHB):c.201-17A>G	6390	SDHB	Uncertain significance	-1	RCV002017663;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17359657	17359657	T	C	17359657	-
NM_003000.3(SDHB):c.201-18G>T	6390	SDHB	Likely benign	-1	RCV002111468;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17359658	17359658	C	A	17359658	-
NM_003000.3(SDHB):c.201-18G>A	6390	SDHB	Likely benign	-1	RCV002127020;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17359658	17359658	C	T	17359658	-
NM_003000.3(SDHB):c.200+3_200+6del	6390	SDHB	Uncertain significance	-1	RCV002039521;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371250	17371253	TACTC	T	17371249	-
NM_003000.3(SDHB):c.200+5G>C	6390	SDHB	Conflicting interpretations of pathogenicity	rs1553178726	RCV000508322\|RCV000536052;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17371251	17371251	C	G	1:g.17371251C>G	ClinGen:CA645509072	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.200+5G>T	6390	SDHB	Uncertain significance	-1	RCV002016515;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371251	17371251	C	A	17371251	-
NM_003000.3(SDHB):c.200+4A>C	6390	SDHB	Uncertain significance	rs774908929	RCV001050432\|RCV001557576;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371252	17371252	T	G	1:g.17371252T>G	-
NM_003000.3(SDHB):c.200+1G>A	6390	SDHB	Pathogenic	-1	RCV001703290\|RCV001868396;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen	1	17371255	17371255	C	T	17371255	-
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)	6390	SDHB	Uncertain significance	rs786202185	RCV000164884\|RCV000560019;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17371263	17371263	G	A	1:g.17371263G>A	ClinGen:CA015581	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.193C>G (p.Leu65Val)	6390	SDHB	Uncertain significance	-1	RCV001758898\|RCV001868698;	N	MedGen:CN517202\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen	1	17371263	17371263	G	C	17371263	-
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)	6390	SDHB	Uncertain significance	rs200131173	RCV001294086\|RCV001871749;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:	1	17371265	17371265	T	C	17371265	-
NM_003000.3(SDHB):c.190del (p.Asp64fs)	6390	SDHB	Pathogenic	rs1553178729	RCV000557065;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371266	17371266	TC	T	1:g.17371266_17371266del	ClinGen:CA658656890	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.189T>C (p.Val63=)	6390	SDHB	Likely benign	-1	RCV002185887;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371267	17371267	A	G	17371267	-
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)	6390	SDHB	Uncertain significance	rs2078099260	RCV001222291;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371269	17371269	C	T	1:g.17371269C>T	-
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)	6390	SDHB	Uncertain significance	-1	RCV001872948;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371272	17371272	C	T	17371272	-
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)	6390	SDHB	Pathogenic	rs760169139	RCV000505331\|RCV001389812;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP	1	17371273	17371273	A	C	NC_000001.10:g.17371273A>C	ClinGen:CA338227764	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.183T>C (p.Tyr61=)	6390	SDHB	Likely benign	-1	RCV001474559;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371273	17371273	A	G	17371273	-
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)	6390	SDHB	Pathogenic	-1	RCV001886266;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371273	17371273	A	T	17371273	-
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)	6390	SDHB	Uncertain significance	rs768171765	RCV001215755;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371274	17371274	T	C	1:g.17371274T>C	-
NM_003000.3(SDHB):c.176A>C (p.Gln59Pro)	6390	SDHB	Uncertain significance	-1	RCV001998970;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371280	17371280	T	G	17371280	-
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)	6390	SDHB	Pathogenic	rs786202100	RCV000164746\|RCV000467539\|RCV001002472\|RCV001257497\|RCV001294007\|RCV001753560;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17371286	17371290	ATGAGG	A	1:g.17371286_17371290del	ClinGen:CA015546	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.162C>T (p.Asp54=)	6390	SDHB	Likely benign	-1	RCV001437184;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371294	17371294	G	A	17371294	-
NM_003000.3(SDHB):c.160G>A (p.Asp54Asn)	6390	SDHB	Uncertain significance	rs1570957997	RCV001012407\|RCV001860707;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17371296	17371296	C	T	1:g.17371296C>T	-
NM_003000.3(SDHB):c.150C>G (p.Asp50Glu)	6390	SDHB	Uncertain significance	rs1570958024	RCV001041328;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371306	17371306	G	C	1:g.17371306G>C	-
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)	6390	SDHB	Uncertain significance	rs1060503765	RCV001229478\|RCV001819929;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371308	17371308	C	T	1:g.17371308C>T	-
NM_003000.3(SDHB):c.146C>T (p.Pro49Leu)	6390	SDHB	Uncertain significance	rs2078100131	RCV001234532;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371310	17371310	G	A	1:g.17371310G>A	-
NM_003000.3(SDHB):c.142G>A (p.Asp48Asn)	6390	SDHB	Uncertain significance	rs2078100198	RCV001049021;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371314	17371314	C	T	1:g.17371314C>T	-
NM_003000.3(SDHB):c.138A>T (p.Arg46=)	6390	SDHB	Likely benign	-1	RCV001422767;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371318	17371318	T	A	17371318	-
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	6390	SDHB	Pathogenic/Likely pathogenic	rs772551056	RCV000162578\|RCV000183217\|RCV000232432\|RCV000505310\|RCV000722045\|RCV000627748\|RCV000763273\|RCV001530203;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN239418\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371319	17371319	C	T	1:g.17371319C>T	ClinGen:CA015517,UniProtKB:P21912#VAR_054377	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	6390	SDHB	Pathogenic	rs74315370	RCV000132150\|RCV000183224\|RCV000228450\|RCV000505277\|RCV000660253;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phen	1	17371320	17371320	G	A	1:g.17371320G>A	ClinGen:CA015507	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.130A>G (p.Ile44Val)	6390	SDHB	Uncertain significance	rs200418115	RCV000521448\|RCV000693783\|RCV001010888;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17371326	17371326	T	C	1:g.17371326T>C	ClinGen:CA089518	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)	6390	SDHB	Uncertain significance	rs2078100395	RCV001213509;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371329	17371329	C	A	1:g.17371329C>A	-
NM_003000.3(SDHB):c.126T>G (p.Phe42Leu)	6390	SDHB	Uncertain significance	-1	RCV002015328;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371330	17371330	A	C	17371330	-
NM_003000.3(SDHB):c.120G>A (p.Lys40=)	6390	SDHB	Likely benign	rs1570958090	RCV000935582\|RCV001398441;	N	MedGen:CN517202\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen	1	17371336	17371336	C	T	1:g.17371336C>T	-
NM_003000.3(SDHB):c.113G>A (p.Arg38His)	6390	SDHB	Likely benign	rs143058777	RCV000230624\|RCV000260688\|RCV000353258\|RCV000575516\|RCV001697230;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371343	17371343	C	T	1:g.17371343C>T	ClinGen:CA089514	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	6390	SDHB	Uncertain significance	rs202119350	RCV000409187\|RCV000456572\|RCV000570971\|RCV000708789\|RCV000986267\|RCV000782212\|RCV000763775;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype	1	17371344	17371344	G	A	1:g.17371344G>A	ClinGen:CA089513	C0018553 Cowden syndrome;
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)	6390	SDHB	Uncertain significance	rs761180960	RCV001341003;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371347	17371347	G	A	17371347	-
NM_003000.3(SDHB):c.109C>G (p.Pro37Ala)	6390	SDHB	Uncertain significance	-1	RCV001899957;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371347	17371347	G	C	17371347	-
NM_003000.3(SDHB):c.108_109delinsAA (p.Pro37Thr)	6390	SDHB	Uncertain significance	-1	RCV002048011;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371347	17371348	GA	TT	17371347	-
NM_003000.3(SDHB):c.106_107delinsAT (p.Ala36Ile)	6390	SDHB	Uncertain significance	rs2078100640	RCV001224016;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371349	17371350	GC	AT	NC_000001.10:g.17371349_17371350delinsAT	-
NM_003000.3(SDHB):c.96T>G (p.Ala32=)	6390	SDHB	Likely benign	-1	RCV001443978;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371360	17371360	A	C	17371360	-
NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)	6390	SDHB	Uncertain significance	-1	RCV001970941;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371362	17371362	C	G	17371362	-
NM_003000.3(SDHB):c.87C>G (p.Ala29=)	6390	SDHB	Likely benign	-1	RCV002216103;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371369	17371369	G	C	17371369	-
NM_003000.3(SDHB):c.84A>G (p.Gly28=)	6390	SDHB	Likely benign	rs1337602604	RCV000940069;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371372	17371372	T	C	1:g.17371372T>C	-
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)	6390	SDHB	Pathogenic	rs74315369	RCV000013623\|RCV000013624\|RCV000129929\|RCV000471400\|RCV000505368\|RCV000657585;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:H	1	17371377	17371377	G	A	1:g.17371377G>A	ClinGen:CA016187,OMIM:185470.0006	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)	6390	SDHB	Conflicting interpretations of pathogenicity	rs74315369	RCV000148870\|RCV000408969\|RCV000492780\|RCV000455540\|RCV000477264\|RCV001527323;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phen	1	17371377	17371377	G	C	1:g.17371377G>C	ClinGen:CA016179	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.73G>T (p.Ala25Ser)	6390	SDHB	Uncertain significance	-1	RCV002002807;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371383	17371383	C	A	17371383	-
NM_003000.3(SDHB):c.73-1G>A	6390	SDHB	Pathogenic/Likely pathogenic	rs1131691055	RCV000492329\|RCV001059539\|RCV001591132;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17371384	17371384	C	T	1:g.17371384C>T	ClinGen:CA338228458	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.73-2A>T	6390	SDHB	Likely pathogenic	-1	RCV002016177;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371385	17371385	T	A	17371385	-
NM_003000.3(SDHB):c.73-5T>G	6390	SDHB	Uncertain significance	rs747649519	RCV001217069;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371388	17371388	A	C	1:g.17371388A>C	-
NM_003000.3(SDHB):c.73-7A>C	6390	SDHB	Likely benign	rs770733541	RCV001062511;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371390	17371390	T	G	1:g.17371390T>G	-
NM_003000.3(SDHB):c.73-7del	6390	SDHB	Benign	-1	RCV002115983;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371390	17371390	AT	A	17371389	-
NM_003000.3(SDHB):c.73-9A>G	6390	SDHB	Uncertain significance	rs1553178757	RCV000505287\|RCV001218490;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP	1	17371392	17371392	T	C	NC_000001.10:g.17371392T>C	ClinGen:CA645509073	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.73-11A>C	6390	SDHB	Likely benign	rs927103985	RCV001810677\|RCV002070106;	N	MedGen:CN517202\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen	1	17371394	17371394	T	G	17371394	-
NM_003000.3(SDHB):c.73-13T>G	6390	SDHB	Likely benign	-1	RCV002088382;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17371396	17371396	A	C	17371396	-
NM_003000.3(SDHB):c.73-17A>C	6390	SDHB	Likely benign	-1	RCV002184265;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17371400	17371400	T	G	17371400	-
NM_003000.3(SDHB):c.73-29del	6390	SDHB	Conflicting interpretations of pathogenicity	rs745905902	RCV001294090\|RCV001587324\|RCV001452806;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MedGen:CN517202\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenot	1	17371412	17371412	GA	G	17371411	-
NC_000001.10:g.17375249_17390927del15679	6390	SDHB	Pathogenic	-1	RCV000013635;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072	1	17375249	17390927	na	na		OMIM:185470.0017	C1861848 115310 Paragangliomas 4;
NC_000001.10:g.17376556_17396932del20377	6390	SDHB	Pathogenic	-1	RCV000013636;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072	1	17376556	17396932	na	na		OMIM:185470.0018	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.72+19G>C	6390	SDHB	Likely benign	-1	RCV002115027;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380424	17380424	C	G	17380424	-
NM_003000.3(SDHB):c.72+18A>G	6390	SDHB	Likely benign	-1	RCV002183277;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380425	17380425	T	C	17380425	-
NM_003000.3(SDHB):c.72+10G>A	6390	SDHB	Likely benign	-1	RCV001426105;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380433	17380433	C	T	17380433	-
NM_003000.3(SDHB):c.72+10G>C	6390	SDHB	Likely benign	-1	RCV001491216;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380433	17380433	C	G	17380433	-
NM_003000.3(SDHB):c.72+8C>T	6390	SDHB	Likely benign	-1	RCV002103977;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380435	17380435	G	A	17380435	-
NC_000001.10:g.(?_17380437)_(17380520_?)del	6390	SDHB	Pathogenic	-1	RCV000544511;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380437	17380520	na	na		-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.72G>C (p.Gln24His)	6390	SDHB	Uncertain significance	rs1553179312	RCV001053994;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380443	17380443	C	G	1:g.17380443C>G	-
NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)	6390	SDHB	Uncertain significance	rs2078163018	RCV001041707;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380443	17380444	CT	GG	NC_000001.10:g.17380443_17380444delinsGG	-
NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)	6390	SDHB	Uncertain significance	rs878854580	RCV001344511;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380444	17380444	T	C	17380444	-
NM_003000.3(SDHB):c.67C>G (p.Leu23Val)	6390	SDHB	Uncertain significance	rs1553179319	RCV000519644\|RCV000633968;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen	1	17380448	17380448	G	C	1:g.17380448G>C	ClinGen:CA338230609	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)	6390	SDHB	Conflicting interpretations of pathogenicity	rs141230910	RCV000206152\|RCV000573095\|RCV000596063\|RCV001101396\|RCV001095936;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380450	17380450	C	G	NC_000001.10:g.17380450C>G	ClinGen:CA089705	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.62C>G (p.Ala21Gly)	6390	SDHB	Uncertain significance	-1	RCV001993917;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380453	17380453	G	C	17380453	-
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)	6390	SDHB	Uncertain significance	rs774266782	RCV001321600;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380454	17380454	C	T	17380454	-
NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)	6390	SDHB	Uncertain significance	-1	RCV001371998;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380457	17380457	C	G	17380457	-
NM_003000.3(SDHB):c.54T>C (p.Leu18=)	6390	SDHB	Likely benign	rs759446168	RCV000872648\|RCV001024191\|RCV001483271;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:290	1	17380461	17380461	A	G	1:g.17380461A>G	-
NM_003000.3(SDHB):c.54T>G (p.Leu18=)	6390	SDHB	Likely benign	-1	RCV001414269;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380461	17380461	A	C	17380461	-
NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)	6390	SDHB	Uncertain significance	-1	RCV001370070;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380463	17380463	G	A	17380463	-
NM_003000.3(SDHB):c.51C>T (p.Thr17=)	6390	SDHB	Likely benign	-1	RCV002075283;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380464	17380464	G	A	17380464	-
NM_003000.3(SDHB):c.51C>A (p.Thr17=)	6390	SDHB	Likely benign	-1	RCV002116371;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380464	17380464	G	T	17380464	-
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)	6390	SDHB	Uncertain significance	rs138979875	RCV000132258\|RCV000704459;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17380465	17380465	G	T	1:g.17380465G>T	ClinGen:CA015929	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.48A>C (p.Thr16=)	6390	SDHB	Likely benign	rs1570963474	RCV000876749\|RCV001551964;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380467	17380467	T	G	1:g.17380467T>G	-
NM_003000.3(SDHB):c.45C>T (p.Ala15=)	6390	SDHB	Likely benign	rs764875162	RCV001022765\|RCV001398503;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17380470	17380470	G	A	1:g.17380470G>A	-
NM_003000.3(SDHB):c.19_41dup (p.Ala15_Thr16insSerProTer)	6390	SDHB	Pathogenic	rs794728951	RCV001921860;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380473	17380474	C	CGGCAACCGGCGCCTCAAGGAGAG	17380473	-
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)	6390	SDHB	Uncertain significance	-1	RCV002046965;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380474	17380474	G	T	17380474	-
NM_003000.3(SDHB):c.35G>A (p.Arg12Gln)	6390	SDHB	Uncertain significance	rs1293365726	RCV001050705;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380480	17380480	C	T	1:g.17380480C>T	-
NM_003000.3(SDHB):c.33C>G (p.Arg11=)	6390	SDHB	Likely benign	-1	RCV002192364;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380482	17380482	G	C	17380482	-
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)	6390	SDHB	Uncertain significance	-1	RCV001890192;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380485	17380485	C	A	17380485	-
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)	6390	SDHB	Conflicting interpretations of pathogenicity	rs1570963545	RCV001017896\|RCV001873304;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17380486	17380486	C	T	1:g.17380486C>T	-
NM_003000.3(SDHB):c.27G>C (p.Leu9Phe)	6390	SDHB	Uncertain significance	-1	RCV002009689;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380488	17380488	C	G	17380488	-
NM_003000.3(SDHB):c.22_23del (p.Ser8fs)	6390	SDHB	Pathogenic	rs1060503767	RCV000464374\|RCV001380009;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380492	17380493	GGA	G	NC_000001.10:g.17380493AG[1]	ClinGen:CA16609954	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.23C>T (p.Ser8Phe)	6390	SDHB	Uncertain significance	rs199848267	RCV000687472\|RCV001015412\|RCV001788326\|RCV001843538;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380492	17380492	G	A	NC_000001.10:g.17380492G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.23C>A (p.Ser8Tyr)	6390	SDHB	Uncertain significance	rs199848267	RCV001037637;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380492	17380492	G	T	1:g.17380492G>T	-
NM_003000.3(SDHB):c.20T>A (p.Leu7His)	6390	SDHB	Uncertain significance	-1	RCV002012700;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380495	17380495	A	T	17380495	-
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)	6390	SDHB	Uncertain significance	rs2078164049	RCV001324318;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380496	17380497	GG	AT	17380496	-
NM_003000.3(SDHB):c.18_19delinsAG (p.Leu7Val)	6390	SDHB	Uncertain significance	-1	RCV001911604;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380496	17380497	GG	CT	17380496	-
NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs)	6390	SDHB	Pathogenic	-1	RCV001387810;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380497	17380498	G	GGCAACCGGCGCCTCAAGGAGAGT	17380497	-
NM_003000.3(SDHB):c.15C>A (p.Val5=)	6390	SDHB	Likely benign	rs1182998682	RCV000562714\|RCV000945450;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenoty	1	17380500	17380500	G	T	1:g.17380500G>T	ClinGen:CA416048822	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.15C>T (p.Val5=)	6390	SDHB	Likely benign	rs1182998682	RCV001012308\|RCV001482378;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:H	1	17380500	17380500	G	A	1:g.17380500G>A	-
NM_003000.3(SDHB):c.15C>G (p.Val5=)	6390	SDHB	Likely benign	-1	RCV001466220;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380500	17380500	G	C	17380500	-
NM_003000.3(SDHB):c.12G>A (p.Val4=)	6390	SDHB	Likely benign	rs768683606	RCV000876746\|RCV001010854;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380503	17380503	C	T	1:g.17380503C>T	-
NM_003000.3(SDHB):c.8C>A (p.Ala3Glu)	6390	SDHB	Uncertain significance	rs11203289	RCV001349303;	N	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	17380507	17380507	G	T	17380507	-
NM_003000.3(SDHB):c.7G>A (p.Ala3Thr)	6390	SDHB	Uncertain significance	-1	RCV001359774;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:1	1	17380508	17380508	C	T	17380508	-
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)	6390	SDHB	Pathogenic/Likely pathogenic	rs1131691061	RCV000492186\|RCV000550393\|RCV001379744;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890; MONDO:MONDO:0	1	17380512	17380512	C	T	1:g.17380512C>T	ClinGen:CA338230889	C0027672 Hereditary cancer-predisposing syndrome;

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