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 ..Pheochromocytoma (D010673)
Child Nodes:
........Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome (C563522)
........Pheochromocytoma Islet Cell Tumor Syndrome (C566807)
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:

9812

Name:

Pheochromocytoma

Definition:

A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)

Alternative IDs:

OMIM:171300

ParentIDs:

MESH:D010235

TreeNumbers:

C04.557.465.625.650.700.725 |C04.557.580.625.650.700.725

Synonyms:

Slim Mappings:

Cancer

Reference:

MedGen: D010673
MeSH: D010673
OMIM: 171300;
MSeqDR :
Genes: GDNF; KIF1B; MAX; RET; SDHB; SDHD; TMEM127; VHL;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000957	Cafe-au-lait spot
3	HP:0001342	Cerebral hemorrhage
4	HP:0000519	Congenital cataract
5	HP:0001635	Congestive heart failure
6	HP:0003345	Elevated urinary norepinephrine
7	HP:0000875	Episodic hypertension
8	HP:0001028	Hemangioma
9	HP:0003072	Hypercalcemia
10	HP:0000975	Hyperhidrosis
11	HP:0001095	Hypertensive retinopathy
12	HP:0002664	Neoplasm
13	HP:0002666	Pheochromocytoma
14	HP:0003574	Positive regitine blocking test
15	HP:0000093	Proteinuria
16	HP:0001920	Renal artery stenosis
17	HP:0001649	Tachycardia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001365951.3(KIF1B):c.-260C>T	23095	KIF1B	Likely benign	149705989	RCV000283204\|RCV000342869\|RCV000377532;	N	Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,	1	10270756	10270756	1:g.10270756C>T	ClinGen:CA10654418	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)	23095	KIF1B	Uncertain significance	1269940164	RCV001789835\|RCV003163929;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	10292487	10292487	10292487	-
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)	23095	KIF1B	Conflicting interpretations of pathogenicity	144889528	RCV000276770\|RCV000327165\|RCV000371287\|RCV002321967;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10318682	10318682	NC_000001.10:g.10318682T>C	ClinGen:CA580664	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)	23095	KIF1B	Uncertain significance	1051917954	RCV001809194\|RCV002329764\|RCV002541481;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	1	10327453	10327453	10327453	-
NM_001365951.3(KIF1B):c.720+17C>T	23095	KIF1B	Benign	1339458	RCV000242299\|RCV001173391\|RCV001594911\|RCV001730633\|RCV001730632\|RCV002058255\|RCV002374420;	N	MedGen:CN169374\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:C3661900\|MONDO:MONDO:0007308,MedGen:C1861678,OMIM:118210, Orphanet:99946\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29	1	10328338	10328338	NC_000001.10:g.10328338C>T	ClinGen:CA580761	CN169374 not specified;
NM_001365951.3(KIF1B):c.883-10_883-7del	23095	KIF1B	Uncertain significance	886044975	RCV000276260\|RCV000330762\|RCV000370802;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10335474	10335477	NC_000001.10:g.10335476_10335479del	ClinGen:CA10607209	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.1038-5del	23095	KIF1B	Conflicting interpretations of pathogenicity	886044976	RCV000278520\|RCV000337111\|RCV000390695\|RCV002365330;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10338039	10338039	NC_000001.10:g.10338039del	ClinGen:CA10607211	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)	23095	KIF1B	Uncertain significance	374848403	RCV000468879\|RCV000764927\|RCV002402256;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007308,MedGen:C1861678,OMIM:118210, Orphanet:99946; Human Phenotype Ontology:HP:0003006,Huma	1	10355752	10355752	NC_000001.10:g.10355752A>G	ClinGen:CA581057	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.2115+6012C>G	23095	KIF1B	Uncertain significance	-1	RCV002292245;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10363316	10363316	10363316	-
NM_001365951.3(KIF1B):c.2115+6476T>C	23095	KIF1B	Uncertain significance	764466176	RCV002254871;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10363780	10363780	10363780	-
NM_001365951.3(KIF1B):c.2115+6545C>A	23095	KIF1B	Uncertain significance	1299989581	RCV001789833;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10363849	10363849	10363849	-
NM_001365951.3(KIF1B):c.2115+7115C>A	23095	KIF1B	Uncertain significance	-1	RCV003230334;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10364419	10364419		-
NM_001365951.3(KIF1B):c.2115+7270G>A	23095	KIF1B	Uncertain significance	-1	RCV003325279;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10364574	10364574		-
NM_001365951.3(KIF1B):c.2115+7343G>A	23095	KIF1B	Uncertain significance	-1	RCV003325274;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10364647	10364647		-
NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val)	23095	KIF1B	Uncertain significance	773852256	RCV001775464\|RCV002422842;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	10380159	10380159	10380159	-
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)	23095	KIF1B	Uncertain significance	141942131	RCV001048551\|RCV001173602\|RCV001197631\|RCV002429624;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:	1	10386339	10386339	1:g.10386339C>T	-
NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys)	23095	KIF1B	Uncertain significance	2102315795	RCV001775466\|RCV003298994;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	10397165	10397165	10397165	-
NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)	23095	KIF1B	Uncertain significance	-1	RCV002320835\|RCV003444264;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10397459	10397459	10397459	-
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)	23095	KIF1B	Uncertain significance	373663596	RCV001334807\|RCV001341321\|RCV002456467\|RCV002504522;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MO	1	10399838	10399838	10399838	-
NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)	23095	KIF1B	Uncertain significance	-1	RCV002327727\|RCV003325240;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10423357	10423357	10423357	-
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg)	23095	KIF1B	Uncertain significance	1011009249	RCV001954845\|RCV002331462\|RCV003154222;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10425555	10425555	10425555	-
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)	23095	KIF1B	Uncertain significance	754479325	RCV001345337\|RCV002341713\|RCV003325230;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10434991	10434991	10434991	-
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)	23095	KIF1B	Conflicting interpretations of pathogenicity	775692548	RCV001060670\|RCV002339299\|RCV003153921\|RCV003132195;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	1	10435018	10435018	1:g.10435018A>G	-
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)	23095	KIF1B	Uncertain significance	768058092	RCV000653948\|RCV002334202\|RCV003230271;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	10435040	10435040	1:g.10435040G>A	ClinGen:CA582292	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)	23095	KIF1B	Uncertain significance	-1	RCV002292255\|RCV002337433;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	10435323	10435323	10435323	-
NM_001365951.3(KIF1B):c.*249CA[19]	23095	KIF1B	Uncertain significance	111663673	RCV000300776\|RCV000336997\|RCV000406423;	N	Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,	1	10436892	10436893	NC_000001.10:g.10436894CA[19]	ClinGen:CA10607225	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*249CA[18]	23095	KIF1B	Uncertain significance	111663673	RCV000285279\|RCV000340430\|RCV000407758;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635\|MONDO:MONDO:0018993,	1	10436892	10436893	NC_000001.10:g.10436894CA[18]	ClinGen:CA10607232	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*249CA[13]	23095	KIF1B	Uncertain significance	111663673	RCV000267787\|RCV000326562\|RCV000381078;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10436893	10436898	NC_000001.10:g.10436894CA[13]	ClinGen:CA10607231	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.281_286del	23095	KIF1B	Uncertain significance	886044990	RCV000282887\|RCV000322969\|RCV000377571;	N	Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,	1	10436921	10436926	NC_000001.10:g.10436926_10436931del	ClinGen:CA10607236	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.281_282dup	23095	KIF1B	Uncertain significance	886044986	RCV000279205\|RCV000337967\|RCV000373964;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10436924	10436925	NC_000001.10:g.10436926_10436927dup	ClinGen:CA10607233	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*454CT[1]	23095	KIF1B	Uncertain significance	886044993	RCV000263911\|RCV000318958\|RCV000377177;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10437098	10437099	NC_000001.10:g.10437099CT[1]	ClinGen:CA10607227	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*1104C>T	23095	KIF1B	Uncertain significance	886044995	RCV000300698\|RCV000355497\|RCV000403663;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10437749	10437749	NC_000001.10:g.10437749C>T	ClinGen:CA10607284	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*1363dup	23095	KIF1B	Uncertain significance	567435289	RCV000300453\|RCV000352939\|RCV000405839;	N	Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,	1	10437995	10437996	NC_000001.10:g.10438008dup	ClinGen:CA10607234	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*2032T>A	23095	KIF1B	Uncertain significance	190108168	RCV000269858\|RCV000303939\|RCV000362199;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635\|MONDO:MONDO:0018993,	1	10438677	10438677	NC_000001.10:g.10438677T>A	ClinGen:CA10607292	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*2978dup	23095	KIF1B	Uncertain significance	145348144	RCV000313918\|RCV000349018\|RCV000391400;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10439620	10439621	NC_000001.10:g.10439623dup	ClinGen:CA10607255	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*3644dup	23095	KIF1B	Uncertain significance	775451005	RCV000275549\|RCV000330668\|RCV000389884;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10440288	10440289	NC_000001.10:g.10440289dup	ClinGen:CA10607266	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*4127dup	23095	KIF1B	Likely benign	548680591	RCV000308905\|RCV000362280\|RCV000391358;	N	Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,	1	10440763	10440764	1:g.10440763_10440764insA	ClinGen:CA10607322	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.*4279dup	23095	KIF1B	Likely benign	531640427	RCV000261208\|RCV000316247\|RCV000360547;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10440921	10440922	1:g.10440921_10440922insT	ClinGen:CA10607374	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001365951.3(KIF1B):c.4664_4665insG	23095	KIF1B	Uncertain significance	571589510	RCV000262609\|RCV000301314\|RCV000367666;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10441309	10441310	NC_000001.10:g.10441309_10441310insG	ClinGen:CA10607260	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_015074.3(KIF1B):c.*5019T>C	23095	KIF1B	Benign	3748581	RCV000289173\|RCV000343588\|RCV000394684;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D00944	1	10441664	10441664	1:g.10441664T>C	ClinGen:CA10654419	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_002382.5(MAX):c.*1308C>T	4149	MAX	Uncertain significance	527697025	RCV000385993;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65541886	65541886	NC_000014.8:g.65541886G>A	ClinGen:CA10645734	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*1285T>C	4149	MAX	Uncertain significance	886050628	RCV000275219;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65541909	65541909	NC_000014.8:g.65541909A>G	ClinGen:CA10640633	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*1278C>T	4149	MAX	Uncertain significance	541851564	RCV000328022;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65541916	65541916	14:g.65541916G>A	ClinGen:CA10645735	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*1276G>C	4149	MAX	Uncertain significance	748335228	RCV000384901;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65541918	65541918	NC_000014.8:g.65541918C>G	ClinGen:CA10635093	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*1229C>T	4149	MAX	Uncertain significance	562514408	RCV000288360;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65541965	65541965	NC_000014.8:g.65541965G>A	ClinGen:CA10645741	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*1127G>C	4149	MAX	Benign	4902357	RCV000345638;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542067	65542067	NC_000014.8:g.65542067C>G	ClinGen:CA10640635	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*1123A>C	4149	MAX	Benign	552459072	RCV000379771;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542071	65542071	NC_000014.8:g.65542071T>G	ClinGen:CA10645746	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*1035C>T	4149	MAX	Uncertain significance	1357628064	RCV001114771;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542159	65542159	14:g.65542159G>A	-
NM_002382.5(MAX):c.*1023C>T	4149	MAX	Uncertain significance	886050629	RCV000282996;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542171	65542171	NC_000014.8:g.65542171G>A	ClinGen:CA10640636	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*943G>A	4149	MAX	Uncertain significance	111875569	RCV001109139;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542251	65542251	14:g.65542251C>T	-
NM_002382.5(MAX):c.*942C>T	4149	MAX	Uncertain significance	886050630	RCV000340243;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542252	65542252	NC_000014.8:g.65542252G>A	ClinGen:CA10644540	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*873T>C	4149	MAX	Uncertain significance	183467855	RCV000391087;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542321	65542321	NC_000014.8:g.65542321A>G	ClinGen:CA10640641	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*717T>C	4149	MAX	Benign	4902358	RCV000281603;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542477	65542477	NC_000014.8:g.65542477A>G	ClinGen:CA10645748	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*700G>T	4149	MAX	Benign	139403325	RCV001109140;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542494	65542494	14:g.65542494C>A	-
NM_002382.5(MAX):c.*678C>T	4149	MAX	Uncertain significance	934021031	RCV001109141;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542516	65542516	14:g.65542516G>A	-
NM_002382.5(MAX):c.*616C>T	4149	MAX	Benign	192895631	RCV001109142;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542578	65542578	14:g.65542578G>A	-
NM_002382.5(MAX):c.*608CA[1]	4149	MAX	Uncertain significance	886050631	RCV000334265;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542583	65542584	NC_000014.8:g.65542583TG[1]	ClinGen:CA10635094	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*603C>G	4149	MAX	Likely benign	117802316	RCV000391090;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542591	65542591	NC_000014.8:g.65542591G>C	ClinGen:CA10635096	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*587G>A	4149	MAX	Benign	1957949	RCV000313362;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542607	65542607	NC_000014.8:g.65542607C>T	ClinGen:CA10645749	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*565G>A	4149	MAX	Benign	1957948	RCV000370674;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542629	65542629	14:g.65542629C>T	ClinGen:CA10645750	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*534G>A	4149	MAX	Uncertain significance	886050632	RCV000404128;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542660	65542660	14:g.65542660C>T	ClinGen:CA10645753	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*503T>G	4149	MAX	Uncertain significance	886050633	RCV000312410;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542691	65542691	14:g.65542691A>C	ClinGen:CA10640649	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*461C>T	4149	MAX	Benign	183428804	RCV000364721;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542733	65542733	14:g.65542733G>A	ClinGen:CA10644541	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*405G>A	4149	MAX	Likely benign	45440292	RCV000272704;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542789	65542789	14:g.65542789C>T	ClinGen:CA10644543	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*404C>T	4149	MAX	Benign	4902359	RCV000325472;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542790	65542790	14:g.65542790G>A	ClinGen:CA10635098	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*375G>A	4149	MAX	Benign	539220905	RCV000363715;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542819	65542819	14:g.65542819C>T	ClinGen:CA10640651	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*344T>A	4149	MAX	Benign	561238353	RCV000266837;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542850	65542850	14:g.65542850A>T	ClinGen:CA10640654	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*320T>G	4149	MAX	Uncertain significance	750680125	RCV000324397;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542874	65542874	14:g.65542874A>C	ClinGen:CA10640657	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*297C>T	4149	MAX	Benign	561525266	RCV000376646;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542897	65542897	14:g.65542897G>A	ClinGen:CA10644548	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*248A>T	4149	MAX	Benign	559154342	RCV000284585;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65542946	65542946	14:g.65542946T>A	ClinGen:CA10644558	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*170C>T	4149	MAX	Uncertain significance	762709691	RCV000318609;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543024	65543024	14:g.65543024G>A	ClinGen:CA10635099	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*169T>C	4149	MAX	Uncertain significance	567680521	RCV001114882;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543025	65543025	14:g.65543025A>G	-
NM_002382.5(MAX):c.*144C>T	4149	MAX	Benign	191382960	RCV000375599;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543050	65543050	14:g.65543050G>A	ClinGen:CA10635100	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*128T>A	4149	MAX	Benign	539193441	RCV001109239;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543066	65543066	14:g.65543066A>T	-
NM_002382.5(MAX):c.*96C>G	4149	MAX	Uncertain significance	949792280	RCV001109240;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543098	65543098	14:g.65543098G>C	-
NM_002382.5(MAX):c.*92G>A	4149	MAX	Benign	45604339	RCV000281937\|RCV001711932;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	14	65543102	65543102	14:g.65543102C>T	ClinGen:CA10635103	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*65G>C	4149	MAX	Benign	566299166	RCV001109241;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543129	65543129	14:g.65543129C>G	-
NM_002382.5(MAX):c.*44G>A	4149	MAX	Likely benign	767990726	RCV000336940;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543150	65543150	NC_000014.8:g.65543150C>T	ClinGen:CA7232774	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.*7C>T	4149	MAX	Benign/Likely benign	199514174	RCV000400673\|RCV001568749\|RCV003317190;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MedGen:CN169374	14	65543187	65543187	NC_000014.8:g.65543187G>A	ClinGen:CA7232781	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.466C>T (p.Arg156Trp)	4149	MAX	Uncertain significance	768360710	RCV000802353\|RCV001022874\|RCV001292850;	N	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,OMIM:171300, Orphanet:29072	14	65543211	65543211	14:g.65543211G>A	-
NM_002382.5(MAX):c.425C>T (p.Ser142Leu)	4149	MAX	Uncertain significance	760147253	RCV000473532\|RCV001022163\|RCV003470394;	N	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,OMIM:171300, Orphanet:29072	14	65543252	65543252	NC_000014.8:g.65543252G>A	ClinGen:CA7232790	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_002382.5(MAX):c.413C>T (p.Ser138Leu)	4149	MAX	Uncertain significance	1176118785	RCV001369109\|RCV002329382\|RCV003469609;	N	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,OMIM:171300, Orphanet:29072	14	65543264	65543264	65543264	-
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)	4149	MAX	Uncertain significance	771696396	RCV000691216\|RCV001021889\|RCV001816708\|RCV002307591\|RCV003465578;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543267	65543267	14:g.65543267C>T	-	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_002382.5(MAX):c.406G>A (p.Gly136Arg)	4149	MAX	Conflicting interpretations of pathogenicity	140490467	RCV000547101\|RCV000575376\|RCV001574060\|RCV002305505;	N	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,OMIM:171300, Orphanet:29072\|MedGen:C3661900	14	65543271	65543271	14:g.65543271C>T	ClinGen:CA7232795	C0027672 Hereditary cancer-predisposing syndrome;
NM_002382.5(MAX):c.406G>C (p.Gly136Arg)	4149	MAX	Uncertain significance	140490467	RCV002021439\|RCV002324495\|RCV003475296;	N	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,OMIM:171300, Orphanet:29072	14	65543271	65543271	65543271	-
NM_002382.5(MAX):c.373A>C (p.Asn125His)	4149	MAX	Uncertain significance	2063062933	RCV001111566;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543304	65543304	14:g.65543304T>G	-
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)	4149	MAX	Uncertain significance	-1	RCV003470054;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543320	65543320		-
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)	4149	MAX	Uncertain significance	769555911	RCV001111567\|RCV001206702\|RCV002451323;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	14	65543333	65543333	14:g.65543333T>C	-
NM_002382.5(MAX):c.341A>C (p.Asn114Thr)	4149	MAX	Conflicting interpretations of pathogenicity	772912674	RCV000233307\|RCV000562371\|RCV002510826\|RCV003469156;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65543336	65543336	14:g.65543336T>G	ClinGen:CA7232806	C0027672 Hereditary cancer-predisposing syndrome;
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)	4149	MAX	Conflicting interpretations of pathogenicity	775808138	RCV000229325\|RCV000563755\|RCV001111568;	N	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,OMIM:171300, Orphanet:29072	14	65543348	65543348	NC_000014.8:g.65543348T>G	ClinGen:CA7232809	C0027672 Hereditary cancer-predisposing syndrome;
NM_002382.5(MAX):c.299G>A (p.Arg100His)	4149	MAX	Uncertain significance	776978293	RCV000810157\|RCV001017891\|RCV003467436;	N	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,OMIM:171300, Orphanet:29072	14	65543378	65543378	14:g.65543378C>T	-
NM_002382.5(MAX):c.295+10C>T	4149	MAX	Benign/Likely benign	375446224	RCV000554265\|RCV001111569;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65544621	65544621	NC_000014.8:g.65544621G>A	ClinGen:CA7232905	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)	4149	MAX	Uncertain significance	-1	RCV003085234\|RCV003459749;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65544660	65544660	NC_000014.8:g.65544660T>G	-
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)	4149	MAX	Uncertain significance	-1	RCV002423452\|RCV003464537;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65544730	65544730	65544730	-
NM_002382.5(MAX):c.172-6230G>A	4149	MAX	Conflicting interpretations of pathogenicity	148339628	RCV000989236\|RCV003221427;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	14	65550984	65550984	14:g.65550984C>T	-
NM_002382.5(MAX):c.97C>T (p.Arg33Ter)	4149	MAX	Pathogenic	387906651	RCV000022655\|RCV000550085\|RCV000562852\|RCV003328552;	N	MedGen:C3149711\|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,OMIM:171300, Orphanet:29072	14	65560500	65560500	14:g.65560500G>A	ClinGen:CA128642,OMIM:154950.0004	C0027672 Hereditary cancer-predisposing syndrome;
NM_002382.5(MAX):c.64G>T (p.Ala22Ser)	4149	MAX	Uncertain significance	-1	RCV002364138\|RCV003098272\|RCV003471355;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65560533	65560533	65560533	-
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)	4149	MAX	Conflicting interpretations of pathogenicity	200547781	RCV000473057\|RCV000562291\|RCV001111570\|RCV002284390\|RCV002480339\|RCV003424008;	N	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,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MedGen:CN169374\|	14	65568271	65568271	NC_000014.8:g.65568271T>A	ClinGen:CA7232993	C0027672 Hereditary cancer-predisposing syndrome;
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)	4149	MAX	Pathogenic/Likely pathogenic	2139963878	RCV001389671\|RCV003136061;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65568272	65568272	65568272	-
NM_002382.5(MAX):c.37-15dup	4149	MAX	Conflicting interpretations of pathogenicity	747340873	RCV000292365\|RCV000589849\|RCV002348052\|RCV003321582;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	14	65568304	65568305	NC_000014.8:g.65568315dup	ClinGen:CA7233003	CN517202 not provided;
NM_002382.5(MAX):c.25G>T (p.Val9Leu)	4149	MAX	Uncertain significance	201743423	RCV000351964\|RCV000488919\|RCV000569331\|RCV000473647\|RCV001820931;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN169374	14	65569033	65569033	NC_000014.8:g.65569033C>A	ClinGen:CA7233036	C0027672 Hereditary cancer-predisposing syndrome;
NM_002382.5(MAX):c.-18C>T	4149	MAX	Benign	201456746	RCV000392707;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569075	65569075	NC_000014.8:g.65569075G>A	ClinGen:CA7233041	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-30C>G	4149	MAX	Benign	755465193	RCV000307644;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569087	65569087	NC_000014.8:g.65569087G>C	ClinGen:CA7233046	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-80G>A	4149	MAX	Uncertain significance	886050634	RCV000362163;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569137	65569137	NC_000014.8:g.65569137C>T	ClinGen:CA10635107	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-94G>C	4149	MAX	Benign/Likely benign	536235832	RCV000402960\|RCV001559023;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	14	65569151	65569151	NC_000014.8:g.65569151C>G	ClinGen:CA10640661	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-98G>T	4149	MAX	Benign	556543602	RCV000308644;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569155	65569155	NC_000014.8:g.65569155C>A	ClinGen:CA10640662	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-99G>A	4149	MAX	Uncertain significance	570017996	RCV000358794;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569156	65569156	NC_000014.8:g.65569156C>T	ClinGen:CA10640663	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-100T>G	4149	MAX	Benign/Likely benign	111941208	RCV000268442\|RCV001547929;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	14	65569157	65569157	NC_000014.8:g.65569157A>C	ClinGen:CA10645757	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-126AGTG[6]	4149	MAX	Uncertain significance	556734672	RCV000323533;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569163	65569164	NC_000014.8:g.65569165ACTC[6]	ClinGen:CA10645763	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-126AGTG[4]	4149	MAX	Conflicting interpretations of pathogenicity	556734672	RCV000354961\|RCV002262984;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	14	65569164	65569167	NC_000014.8:g.65569165ACTC[4]	ClinGen:CA10635108	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-110A>T	4149	MAX	Uncertain significance	886050636	RCV000260135;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569167	65569167	NC_000014.8:g.65569167T>A	ClinGen:CA10645769	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-127G>A	4149	MAX	Uncertain significance	886050637	RCV000320185;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569184	65569184	NC_000014.8:g.65569184C>T	ClinGen:CA10635111	C0031511 171300 Pheochromocytoma;
NM_002382.5(MAX):c.-152TG[8]	4149	MAX	Uncertain significance	886050638	RCV000374857;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569195	65569196	NC_000014.8:g.65569196CA[8]	ClinGen:CA10635112	C0031511 171300 Pheochromocytoma;
NR_073138.1(MAX):n.146C>G	4149	MAX	Uncertain significance	899541680	RCV001114984;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	14	65569268	65569268		-
NM_020630.5(RET):c.-200A>G	5979	RET	Benign	10900296	RCV000265906\|RCV000281211\|RCV000320981\|RCV000375701\|RCV001692084;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MedGen:CN239304\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C	10	43572507	43572507	10:g.43572507A>G	ClinGen:CA10654456	CN239304 Hirschsprung Disease, Dominant;
NM_020975.5(RET):c.-196C>A	5979	RET	Benign/Likely benign	10900297	RCV000295854\|RCV000317662\|RCV000350719\|RCV000372338\|RCV000836537;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MedGen:CN239304\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C	10	43572511	43572511	10:g.43572511C>A	ClinGen:CA10654457	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.-187C>A	5979	RET	Uncertain significance	886046983	RCV000291019\|RCV000325032\|RCV000383449\|RCV000381849;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MedGen:CN239304\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	10	43572520	43572520	NC_000010.10:g.43572520C>A	ClinGen:CA10635704	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.-160G>T	5979	RET	Benign/Likely benign	567112195	RCV001103596\|RCV001103597\|RCV001103598\|RCV001103599\|RCV003413914;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0	10	43572547	43572547	10:g.43572547G>T	-
NM_020975.6(RET):c.-158G>A	5979	RET	Uncertain significance	886046984	RCV000284131\|RCV000285183\|RCV000342597\|RCV000400846;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:	10	43572549	43572549	NC_000010.10:g.43572549G>A	ClinGen:CA10631663	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.-132G>T	5979	RET	Conflicting interpretations of pathogenicity	886046985	RCV000298833\|RCV000336868\|RCV000369892\|RCV000393831\|RCV002256191;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedG	10	43572575	43572575	NC_000010.10:g.43572575G>T	ClinGen:CA10628534	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.-51C>T	5979	RET	Uncertain significance	765384640	RCV001105541\|RCV001106684\|RCV001106682\|RCV001106683;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedG	10	43572656	43572656	10:g.43572656C>T	-
NM_020975.6(RET):c.-2C>A	5979	RET	Conflicting interpretations of pathogenicity	876657980	RCV000221356\|RCV000572702\|RCV001580474\|RCV002503860;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240, Orphanet:	10	43572705	43572705	10:g.43572705C>A	ClinGen:CA10576788	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.138C>T (p.Ala46=)	5979	RET	Likely benign	1177522214	RCV001411320\|RCV002390899\|RCV002479059;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007723,MedGen:C3888239,OMIM	10	43595971	43595971		-
NM_020975.6(RET):c.144G>A (p.Thr48=)	5979	RET	Likely benign	759872307	RCV000827021\|RCV001011645\|RCV001086694\|RCV002503779;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedG	10	43595977	43595977		ClinGen:CA033685	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.220G>A (p.Gly74Ser)	5979	RET	Conflicting interpretations of pathogenicity	764938319	RCV000270926\|RCV000323687\|RCV000329067\|RCV000363157\|RCV000551141\|RCV001014798\|RCV003153553;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:	10	43596053	43596053	10:g.43596053G>A	ClinGen:CA037807	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.334C>T (p.Arg112Cys)	5979	RET	Uncertain significance	762626209	RCV000200291\|RCV000283887\|RCV000322527\|RCV000380664\|RCV000374792\|RCV000572326\|RCV000663300\|RCV002470810;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMI	10	43596167	43596167	NC_000010.10:g.43596167C>T	ClinGen:CA043169	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.337+12G>A	5979	RET	Benign/Likely benign	200468424	RCV000312273\|RCV000346124\|RCV000351814\|RCV000390153\|RCV000410692\|RCV000411730\|RCV000605249\|RCV002255357\|RCV002059550\|RCV003417968;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MedGen:CN239304\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MO	10	43596182	43596182	10:g.43596182G>A	ClinGen:CA043185	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.375C>A (p.Val125=)	5979	RET	Benign/Likely benign	1800859	RCV000082057\|RCV000163272\|RCV000267055\|RCV000307088\|RCV000364069\|RCV000407158\|RCV000712298\|RCV000736271\|RCV001082716\|RCV003315608;	N	MedGen:CN169374\|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:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:	10	43597827	43597827		ClinGen:CA009244
NM_020975.6(RET):c.398G>A (p.Arg133His)	5979	RET	Conflicting interpretations of pathogenicity	138265837	RCV000688498\|RCV001021592\|RCV002469258\|RCV002485619;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedG	10	43597850	43597850	10:g.43597850G>A	-	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.452A>T (p.Asn151Ile)	5979	RET	Uncertain significance	150261092	RCV001297473\|RCV002341583\|RCV002476383;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0008234,MeSH:D018813,MedGen:	10	43597904	43597904	43597904	-
NM_020975.6(RET):c.468C>T (p.Ala156=)	5979	RET	Benign/Likely benign	141290380	RCV000200388\|RCV000561761\|RCV000607836\|RCV002500618;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedG	10	43597920	43597920		ClinGen:CA043776	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.484C>T (p.Pro162Ser)	5979	RET	Uncertain significance	1564490122	RCV000688770\|RCV001103794\|RCV001103791\|RCV001103792\|RCV001103793;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMI	10	43597936	43597936	NC_000010.10:g.43597936C>T	-	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.517T>C (p.Ser173Pro)	5979	RET	Uncertain significance	864622361	RCV000204256\|RCV002336561\|RCV002485343;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007958,MedGen:C1833921,OMIM	10	43597969	43597969	NC_000010.10:g.43597969T>C	ClinGen:CA348499	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.566G>A (p.Arg189His)	5979	RET	Conflicting interpretations of pathogenicity	753707182	RCV000526271\|RCV001105728\|RCV001105729\|RCV001105730\|RCV001105731\|RCV002350393;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMI	10	43598018	43598018	10:g.43598018G>A	ClinGen:CA043969	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.596A>G (p.Asn199Ser)	5979	RET	Uncertain significance	886046986	RCV000260835\|RCV000332410\|RCV000375547\|RCV000389327\|RCV001297828\|RCV002356413;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43598048	43598048	10:g.43598048A>G	ClinGen:CA10635327	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.597C>T (p.Asn199=)	5979	RET	Conflicting interpretations of pathogenicity	55810667	RCV000123323\|RCV000292445\|RCV000291430\|RCV000349967\|RCV000383508\|RCV000565107\|RCV000611182\|RCV003415926;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:	10	43598049	43598049		ClinGen:CA009297
NM_020975.6(RET):c.625+11A>G	5979	RET	Likely benign	778239396	RCV002197754\|RCV002498200;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155	10	43598088	43598088	43598088	-
NM_020975.6(RET):c.626-41G>A	5979	RET	Likely benign	572623103	RCV002268742\|RCV002496208;	N	MedGen:CN169374\|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240,	10	43600359	43600359	43600359	-
NM_020975.6(RET):c.654G>A (p.Pro218=)	5979	RET	Benign/Likely benign	137928436	RCV000344061\|RCV000342504\|RCV000303924\|RCV000398250\|RCV000570184\|RCV000595562\|RCV000679755\|RCV001083416;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:	10	43600428	43600428		ClinGen:CA044443
NM_020975.6(RET):c.677G>C (p.Arg226Pro)	5979	RET	Uncertain significance	937818626	RCV001243116\|RCV002366071\|RCV002480816\|RCV003469464;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007958,MedGen:C1833921,OMIM	10	43600451	43600451	10:g.43600451G>C	-
NM_020975.6(RET):c.682G>C (p.Ala228Pro)	5979	RET	Conflicting interpretations of pathogenicity	760813493	RCV000206221\|RCV000571565\|RCV002494530\|RCV003148679;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007723,MedGen:C3888239,OMIM	10	43600456	43600456	NC_000010.10:g.43600456G>C	ClinGen:CA044503	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.693C>T (p.Arg231=)	5979	RET	Conflicting interpretations of pathogenicity	576806329	RCV000123325\|RCV000263104\|RCV000302880\|RCV000355396\|RCV000391410\|RCV000409807\|RCV000412200\|RCV000568383\|RCV001081768;	N	MedGen:C3661900\|MedGen:CN239304\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphane	10	43600467	43600467		ClinGen:CA009323	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.750C>T (p.Arg250=)	5979	RET	Conflicting interpretations of pathogenicity	1013952995	RCV001209376\|RCV002393470\|RCV002480689;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0008234,MeSH:D018813,MedGen:	10	43600524	43600524		-
NM_020975.6(RET):c.867+4C>G	5979	RET	Uncertain significance	1837741280	RCV001104182\|RCV001104183\|RCV001104181\|RCV001106953;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedG	10	43600645	43600645	10:g.43600645C>G	-
NM_020975.6(RET):c.957C>A (p.Leu319=)	5979	RET	Conflicting interpretations of pathogenicity	149926238	RCV000163298\|RCV000327857\|RCV000275161\|RCV000384830\|RCV000288125\|RCV000679757\|RCV001084417\|RCV001818363;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGe	10	43601913	43601913		ClinGen:CA009391
NM_020975.6(RET):c.960C>A (p.Pro320=)	5979	RET	Conflicting interpretations of pathogenicity	756761746	RCV001206433\|RCV002256697\|RCV002484114;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0008234,MeSH:D018813,MedGen:	10	43601916	43601916		-
NM_020975.6(RET):c.1051G>A (p.Val351Ile)	5979	RET	Uncertain significance	777716061	RCV000167232\|RCV000553159\|RCV002485039;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007723,MedGen:C3888239,OMIM	10	43602007	43602007	10:g.43602007G>A	ClinGen:CA007417	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.1062T>C (p.Tyr354=)	5979	RET	Uncertain significance	1837785673	RCV001053723\|RCV001107615\|RCV001103995\|RCV001107616\|RCV001107617;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedGen:C3888239,OMI	10	43602018	43602018		-
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)	5979	RET	Conflicting interpretations of pathogenicity	754116867	RCV000567474\|RCV000802145\|RCV002476249\|RCV003225093;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008082,MeSH:D018814,MedGen:	10	43604517	43604517	NC_000010.10:g.43604517C>T	ClinGen:CA031579	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.1109T>A (p.Met370Lys)	5979	RET	Uncertain significance	886046987	RCV000287203\|RCV000327108\|RCV000339810\|RCV000379414\|RCV000692332\|RCV003298361;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:	10	43604524	43604524	10:g.43604524T>A	ClinGen:CA10628535	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.1118C>T (p.Ala373Val)	5979	RET	Benign/Likely benign	546866208	RCV000168246\|RCV000281539\|RCV000338812\|RCV000401362\|RCV000393682\|RCV000607370\|RCV000662764\|RCV001017385\|RCV003316068;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MedGen:CN239304\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGe	10	43604533	43604533	10:g.43604533C>T	ClinGen:CA007442	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.1162G>A (p.Val388Ile)	5979	RET	Uncertain significance	776223166	RCV000312196\|RCV000313283\|RCV000370252\|RCV000393718\|RCV000654549\|RCV002321978;	N	MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:	10	43604577	43604577	10:g.43604577G>A	ClinGen:CA031971	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.1230C>G (p.Leu410=)	5979	RET	Likely benign	995081128	RCV002169435\|RCV002494029\|RCV002361428;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653; MONDO:MONDO:000	10	43604645	43604645		-
NM_020975.6(RET):c.1253G>A (p.Arg418Gln)	5979	RET	Conflicting interpretations of pathogenicity	371731991	RCV000206643\|RCV000561732\|RCV002285278\|RCV002494521;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedG	10	43604668	43604668	10:g.43604668G>A	ClinGen:CA032301	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.1253G>C (p.Arg418Pro)	5979	RET	Uncertain significance	371731991	RCV000205043\|RCV000564885\|RCV002478724;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007958,MedGen:C1833921,OMIM	10	43604668	43604668	NC_000010.10:g.43604668G>C	ClinGen:CA349205	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.1264-10G>A	5979	RET	Uncertain significance	1837911590	RCV001040346\|RCV002481879;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:000	10	43606645	43606645	10:g.43606645G>A	-
NM_020975.6(RET):c.1264-8C>T	5979	RET	Conflicting interpretations of pathogenicity	769595884	RCV001107715\|RCV001107716\|RCV001107717\|RCV001107718\|RCV001079777;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43606647	43606647	NC_000010.10:g.43606647C>T	ClinGen:CA593289956	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.1264-5C>A	5979	RET	Conflicting interpretations of pathogenicity	9282835	RCV001566899\|RCV002488386\|RCV001866004\|RCV002414269;	N	MedGen:C3661900\|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240,	10	43606650	43606650	43606650	-
NM_020975.6(RET):c.1326G>T (p.Leu442=)	5979	RET	Uncertain significance	746055866	RCV001104387\|RCV001104384\|RCV001104385\|RCV001104386;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43606717	43606717		-
NM_020975.6(RET):c.1353G>T (p.Thr451=)	5979	RET	Benign/Likely benign	201568301	RCV000468172\|RCV001011137\|RCV001107137\|RCV001107134\|RCV001107135\|RCV001107136;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0024519,MedGen:C1619700,OMIM	10	43606744	43606744		ClinGen:CA033231
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)	5979	RET	Conflicting interpretations of pathogenicity	775842917	RCV000292520\|RCV000352045\|RCV000390089\|RCV000402202\|RCV001239526\|RCV001840481\|RCV002392835\|RCV003409465\|RCV003469251;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN239304\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MO	10	43606811	43606811	10:g.43606811C>T	ClinGen:CA033490	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.1476C>G (p.Thr492=)	5979	RET	Likely benign	758249079	RCV000679716\|RCV001011749\|RCV001082401\|RCV002485313;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedG	10	43606867	43606867		ClinGen:CA033815	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.1493C>T (p.Ala498Val)	5979	RET	Uncertain significance	375677628	RCV000569143\|RCV000696079\|RCV002508232\|RCV002476248\|RCV003325206;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008082,MeSH	10	43606884	43606884	10:g.43606884C>T	ClinGen:CA033877	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.1523-7C>T	5979	RET	Benign/Likely benign	567967877	RCV000309086\|RCV000358721\|RCV000362668\|RCV000407084\|RCV000871046\|RCV002504056;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedG	10	43607540	43607540	10:g.43607540C>T	ClinGen:CA034277	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.1547C>G (p.Pro516Arg)	5979	RET	Uncertain significance	1194200337	RCV000691033\|RCV002397394\|RCV002485643\|RCV003148828;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007958,MedGen:C1833921,OMIM	10	43607571	43607571	10:g.43607571C>G	-	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.1617C>A (p.Gly539=)	5979	RET	Likely benign	1554818648	RCV001413705\|RCV002493973;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240, Orphanet:653, Orphanet:99361; MONDO:MONDO:0007723,MedGen:C3	10	43607641	43607641		-
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)	5979	RET	Conflicting interpretations of pathogenicity	543376293	RCV000260802\|RCV000263988\|RCV000305137\|RCV000359923\|RCV000573672\|RCV000697839\|RCV001252827\|RCV002480091\|RCV003153554;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedG	10	43607642	43607642	10:g.43607642A>G	ClinGen:CA034653	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.1648+5G>A	5979	RET	Uncertain significance	863224776	RCV000195571\|RCV002485321\|RCV003298264;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240, Orphanet:653, Orphanet:99361; MONDO:MONDO:0008234,MeSH:D018	10	43607677	43607677	10:g.43607677G>A	ClinGen:CA335777	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.1649-7T>C	5979	RET	Likely benign	758817204	RCV000868071\|RCV002495279;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653; MONDO:MONDO:000	10	43608294	43608294	10:g.43608294T>C	-
NM_020975.6(RET):c.1760-12G>A	5979	RET	Conflicting interpretations of pathogenicity	377767392	RCV000261911\|RCV000315977\|RCV000330417\|RCV000375196\|RCV000663117\|RCV000679724\|RCV002054468;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MedGen:CN239304\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MO	10	43608992	43608992	10:g.43608992G>A	ClinGen:CA007734	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)	5979	RET	Conflicting interpretations of pathogenicity	745418960	RCV000549713\|RCV001013214\|RCV001107245\|RCV001107247\|RCV001107244\|RCV001107246\|RCV002491103;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0024519,MedGen:C1619700,OMIM	10	43609042	43609042	NC_000010.10:g.43609042C>T	ClinGen:CA035694	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.1879+14G>A	5979	RET	Conflicting interpretations of pathogenicity	532810255	RCV000295350\|RCV000345576\|RCV000381315\|RCV000389662\|RCV000662734\|RCV001850584;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:	10	43609137	43609137	10:g.43609137G>A	ClinGen:CA035963	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.1880-5C>A	5979	RET	Uncertain significance	1838016447	RCV001102655\|RCV001102656\|RCV001107890\|RCV001107889\|RCV002411629;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43609923	43609923	10:g.43609923C>A	-
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)	5979	RET	Conflicting interpretations of pathogenicity	377767406	RCV000519407\|RCV000564566\|RCV000696792\|RCV001818172\|RCV002477000\|RCV003460488;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MO	10	43609939	43609939	10:g.43609939G>A	ClinGen:CA008190	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)	5979	RET	Pathogenic	75076352	RCV000014923\|RCV000014922\|RCV000182581\|RCV000654584\|RCV001013616\|RCV001310209\|RCV001420921;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653\|MedGen:C3661900\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653	10	43609948	43609948	10:g.43609948T>G	ClinGen:CA008324,UniProtKB:P07949#VAR_006323,OMIM:164761.0003	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	5979	RET	Pathogenic	75076352	RCV000014938\|RCV000014937\|RCV000082051\|RCV000163338\|RCV000420446\|RCV000420995\|RCV000430685\|RCV000431794\|RCV000552504\|RCV000677899\|RCV003460479;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672	10	43609948	43609948	10:g.43609948T>C	ClinVar:13906,ClinGen:CA008315,UniProtKB:P07949#VAR_006326,OMIM:164761.0002,OMIM:164761.0011	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	5979	RET	Pathogenic	75996173	RCV000014924\|RCV000014925\|RCV000129490\|RCV000182582\|RCV000422622\|RCV000425364\|RCV000421191\|RCV000432822\|RCV000438527\|RCV000476408;	N	MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	10	43609949	43609949	10:g.43609949G>A	ClinGen:CA008348,UniProtKB:P07949#VAR_006325,OMIM:164761.0004	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.1901G>C (p.Cys634Ser)	5979	RET	Pathogenic	75996173	RCV000014926\|RCV000014927\|RCV000021824\|RCV001262460\|RCV002251730;	N	MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:000	10	43609949	43609949	10:g.43609949G>C	OMIM:164761.0005,ClinGen:CA008361,UniProtKB:P07949#VAR_006327	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)	5979	RET	Pathogenic	75996173	RCV000014929\|RCV000014930\|RCV000014928\|RCV000471652\|RCV002408463\|RCV003237413;	N	MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240, Orphanet:653, Orphanet:99361\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698,O	10	43609949	43609949	10:g.43609949G>T	ClinGen:CA008370,UniProtKB:P07949#VAR_006324,OMIM:164761.0006	C1833921 155240 Familial medullary thyroid carcinoma;
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)	5979	RET	Pathogenic	77709286	RCV000014939\|RCV000014940\|RCV000405235\|RCV000424817\|RCV000417418\|RCV000432112\|RCV000444799\|RCV000442512\|RCV000459040\|RCV001013621;	N	MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269	10	43609950	43609950	10:g.43609950C>G	ClinGen:CA008378,UniProtKB:P07949#VAR_006328,OMIM:164761.0012	C0238462 Medullary thyroid carcinoma;
NM_020975.6(RET):c.1904G>A (p.Arg635His)	5979	RET	Uncertain significance	776164321	RCV000205542\|RCV002408893\|RCV002485344;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007958,MedGen:C1833921,OMIM	10	43609952	43609952	10:g.43609952G>A	ClinGen:CA036487	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.2005A>G (p.Ile669Val)	5979	RET	Conflicting interpretations of pathogenicity	776986585	RCV000566339\|RCV001359410\|RCV002491139\|RCV003222050;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008082,MeSH:D018814,MedGen:	10	43610053	43610053	NC_000010.10:g.43610053A>G	ClinGen:CA036871	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.2050C>T (p.Pro684Ser)	5979	RET	Uncertain significance	141347316	RCV000298948\|RCV000343375\|RCV000353999\|RCV000391239\|RCV001069295\|RCV003320629\|RCV002418152;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43610098	43610098	10:g.43610098C>T	ClinGen:CA037073	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.2052G>A (p.Pro684=)	5979	RET	Conflicting interpretations of pathogenicity	145122337	RCV000369018\|RCV000263785\|RCV000273369\|RCV000300341\|RCV000566200\|RCV000616095\|RCV000679726\|RCV001082755;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43610100	43610100		ClinGen:CA037105
NM_020975.6(RET):c.2078G>A (p.Arg693His)	5979	RET	Uncertain significance	1332256523	RCV001232485\|RCV002418797\|RCV002491748\|RCV003387978;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0008082,MeSH:D018814,MedGen:	10	43610126	43610126	10:g.43610126G>A	-
NM_020975.6(RET):c.2162G>A (p.Arg721Gln)	5979	RET	Uncertain significance	1356141763	RCV000708757\|RCV001545206\|RCV001205883\|RCV002485780\|RCV003460990;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007723,MedG	10	43612057	43612057	10:g.43612057G>A	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.2182A>G (p.Lys728Glu)	5979	RET	Uncertain significance	147216744	RCV000691463\|RCV002424623\|RCV002485646;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007958,MedGen:C1833921,OMIM	10	43612077	43612077	10:g.43612077A>G	-	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.2284+15C>T	5979	RET	Likely benign	768252806	RCV002137253\|RCV002486910;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240, Orphanet:653, Orphanet:99361; MONDO:MONDO:0007723,MedGen:C3	10	43612194	43612194	43612194	-
NM_020975.6(RET):c.2290G>A (p.Ala764Thr)	5979	RET	Conflicting interpretations of pathogenicity	748799148	RCV000576114\|RCV000654575\|RCV002476250;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008082,MeSH:D018814,MedGen:	10	43613826	43613826	NC_000010.10:g.43613826G>A	ClinGen:CA038434	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	5979	RET	Conflicting interpretations of pathogenicity	77724903	RCV000014963\|RCV000014962\|RCV000034771\|RCV000130367\|RCV000148769\|RCV000235206\|RCV000312825\|RCV000370653\|RCV000400976\|RCV000419149\|RCV000426589\|RCV000436831\|RCV000431156\|RCV000441584\|RCV000754613\|RCV001083710;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240, Orphanet:653, Orphanet:99361\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401	10	43613908	43613908	10:g.43613908A>T	ClinGen:CA008726,UniProtKB:P07949#VAR_009483,OMIM:164761.0034	C1833921 155240 Familial medullary thyroid carcinoma;
NM_020975.6(RET):c.2403C>T (p.Leu801=)	5979	RET	Conflicting interpretations of pathogenicity	1554819519	RCV000572478\|RCV000869947\|RCV001102858\|RCV001102855\|RCV001102856\|RCV001102857;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM	10	43614989	43614989		ClinGen:CA469479710
NM_020975.6(RET):c.2467G>A (p.Gly823Arg)	5979	RET	Uncertain significance	138847998	RCV000272691\|RCV000307731\|RCV000362457\|RCV000393505\|RCV001015632\|RCV002520586;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN239304\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MO	10	43615053	43615053	10:g.43615053G>A	ClinGen:CA10635707	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.2480T>C (p.Leu827Pro)	5979	RET	Uncertain significance	2132945857	RCV002031063\|RCV002486763\|RCV003464399;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155	10	43615066	43615066	43615066	-
NM_020975.6(RET):c.2508C>T (p.Ser836=)	5979	RET	Benign/Likely benign	1800862	RCV000151741\|RCV000203081\|RCV000264509\|RCV000327711\|RCV000359214\|RCV000712296\|RCV001015789\|RCV001080523\|RCV003315509;	N	MedGen:CN169374\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO	10	43615094	43615094		ClinGen:CA008829
NM_020975.6(RET):c.2535C>T (p.Ala845=)	5979	RET	Likely benign	377767425	RCV001490472\|RCV002496437;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400, Orphanet:247698, Orphanet:653; MONDO:MONDO:000	10	43615121	43615121		ClinGen:CA008893
NM_020975.6(RET):c.2546G>A (p.Gly849Asp)	5979	RET	Uncertain significance	761130672	RCV000654598\|RCV002485479;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653; MONDO:MONDO:000	10	43615132	43615132	10:g.43615132G>A	ClinGen:CA039728	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.2580G>A (p.Gln860=)	5979	RET	Conflicting interpretations of pathogenicity	886046988	RCV000279714\|RCV000316068\|RCV000375295\|RCV000378390\|RCV001428203\|RCV002429252;	N	MedGen:CN239304\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MO	10	43615166	43615166		ClinGen:CA10635722	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.2700T>C (p.Tyr900=)	5979	RET	Likely benign	1185622721	RCV001427792\|RCV002432185\|RCV002504705;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007958,MedGen:C1833921,OMIM	10	43615621	43615621		-
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	5979	RET	Pathogenic/Likely pathogenic	74799832	RCV000014941\|RCV000014942\|RCV000014943\|RCV000082054\|RCV000175096\|RCV000161926\|RCV000415312\|RCV000425499\|RCV000428538\|RCV000417859\|RCV000444529\|RCV000999916\|RCV001266480\|RCV001292662\|RCV001542764\|RCV002255998;	N	MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653\|MedGen:C1833929\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0008234,MeSH:D018813	10	43617416	43617416	10:g.43617416T>C	ClinGen:CA009082,UniProtKB:P07949#VAR_006342,OMIM:164761.0013	C0009806 Constipation;
NM_020975.6(RET):c.2755G>C (p.Ala919Pro)	5979	RET	Uncertain significance	1361265737	RCV000705686\|RCV002485764\|RCV002440539\|RCV003403635;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155	10	43617418	43617418	10:g.43617418G>C	-	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.2776C>G (p.His926Asp)	5979	RET	Conflicting interpretations of pathogenicity	774215008	RCV000196286\|RCV002433890\|RCV002478713\|RCV003441780;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0007958,MedGen:C1833921,OMIM	10	43617439	43617439	10:g.43617439C>G	ClinGen:CA040885	CN073359 Multiple endocrine neoplasia, type 2;
NM_020975.6(RET):c.2790G>A (p.Thr930=)	5979	RET	Likely benign	746599792	RCV000561012\|RCV000868350\|RCV002491141;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008082,MeSH:D018814,MedGen:	10	43617453	43617453		ClinGen:CA040923	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.2847A>G (p.Gly949=)	5979	RET	Conflicting interpretations of pathogenicity	886046989	RCV000307108\|RCV000351301\|RCV000366161\|RCV000399319\|RCV000988349\|RCV001453964\|RCV002436139;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MedGen:CN239304\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MO	10	43619164	43619164		ClinGen:CA10628546	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.2876G>A (p.Arg959Gln)	5979	RET	Uncertain significance	745650861	RCV000268422\|RCV000303500\|RCV000358250\|RCV000406955\|RCV000568661\|RCV000654551\|RCV002494937\|RCV003165811;	N	MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0	10	43619193	43619193	10:g.43619193G>A	ClinGen:CA041338	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.2939+13T>C	5979	RET	Likely benign	149417158	RCV002129466\|RCV002500007;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:000	10	43619269	43619269	43619269	-
NM_020975.6(RET):c.2985G>A (p.Arg995=)	5979	RET	Likely benign	1252674267	RCV001401269\|RCV002499850\|RCV003355457;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300, Orphanet:247709, Orphanet:653; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:000	10	43620376	43620376		-
NM_020975.6(RET):c.2988G>A (p.Pro996=)	5979	RET	Conflicting interpretations of pathogenicity	145798106	RCV000199267\|RCV000291942\|RCV000253581\|RCV000288556\|RCV000345815\|RCV000395274\|RCV000569522\|RCV000662488\|RCV001289998\|RCV003326372;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN169374\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedGe	10	43620379	43620379		ClinGen:CA041871
NM_020975.6(RET):c.3022A>T (p.Met1008Leu)	5979	RET	Uncertain significance	1554820077	RCV000569684\|RCV000817531\|RCV002483541;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008082,MeSH:D018814,MedGen:	10	43620413	43620413	NC_000010.10:g.43620413A>T	ClinGen:CA376558209	C0027672 Hereditary cancer-predisposing syndrome;
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu)	5979	RET	Uncertain significance	1305293392	RCV001217322\|RCV002322057\|RCV002484179;	N	MONDO:MONDO:0019003,MedGen:C4048306, Orphanet:653\|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:0008234,MeSH:D018813,MedGen:	10	43622123	43622123	10:g.43622123C>T	-
NM_020975.6(RET):c.*29C>A	5979	RET	Conflicting interpretations of pathogenicity	199639914	RCV001103049\|RCV001103050\|RCV001104961\|RCV001104962\|RCV003321801;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedG	10	43623746	43623746	10:g.43623746C>A	-
NM_020975.6(RET):c.*84G>A	5979	RET	Conflicting interpretations of pathogenicity	558718557	RCV000263605\|RCV000298834\|RCV000356032\|RCV000408384;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43623801	43623801	10:g.43623801G>A	ClinGen:CA10628547	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*95C>T	5979	RET	Benign	17028	RCV000276472\|RCV000311724\|RCV000333449\|RCV000368704;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedG	10	43623812	43623812	10:g.43623812C>T	ClinGen:CA10635733	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*175C>G	5979	RET	Uncertain significance	886046990	RCV000270264\|RCV000327627\|RCV000381115\|RCV000384628;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0017169,MedGen:C0	10	43623892	43623892	10:g.43623892C>G	ClinGen:CA10631664	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*180G>A	5979	RET	Uncertain significance	1838382247	RCV001108332\|RCV001108331\|RCV001108333\|RCV001108330;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0017169,MedGen:C0	10	43623897	43623897	10:g.43623897G>A	-
NM_020975.6(RET):c.*330A>G	5979	RET	Benign/Likely benign	141460872	RCV000283226\|RCV000286851\|RCV000340605\|RCV000378919;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0	10	43624047	43624047	10:g.43624047A>G	ClinGen:CA10631667	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*358G>T	5979	RET	Uncertain significance	886046991	RCV000299661\|RCV000334795\|RCV000338153\|RCV000400079;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN239304	10	43624075	43624075	10:g.43624075G>T	ClinGen:CA10628554	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*368G>T	5979	RET	Uncertain significance	756051983	RCV000269418\|RCV000312483\|RCV000369487\|RCV000390066;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN239304	10	43624085	43624085	10:g.43624085G>T	ClinGen:CA10631668	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*446A>G	5979	RET	Uncertain significance	886046992	RCV000267044\|RCV000324570\|RCV000378016\|RCV000372391;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MedGen:CN239304\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	10	43624163	43624163	NC_000010.10:g.43624163A>G	ClinGen:CA10631669	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*453G>T	5979	RET	Uncertain significance	886046993	RCV000280125\|RCV000293193\|RCV000337622\|RCV000375834;	N	MedGen:CN239304\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161	10	43624170	43624170	NC_000010.10:g.43624170G>T	ClinGen:CA10631670	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*499dup	5979	RET	Likely benign	201945709	RCV000295662\|RCV000344726\|RCV000350514\|RCV000397284;	N	MedGen:CN239304\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	10	43624208	43624209	NC_000010.10:g.43624216dup	ClinGen:CA10635734	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*506G>T	5979	RET	Uncertain significance	886046995	RCV000309584\|RCV000366669\|RCV000400228\|RCV000406930;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43624223	43624223	NC_000010.10:g.43624223G>T	ClinGen:CA10628556	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*509A>G	5979	RET	Uncertain significance	886046996	RCV000268470\|RCV000303593\|RCV000316349\|RCV000360823;	N	MedGen:CN239304\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	10	43624226	43624226	NC_000010.10:g.43624226A>G	ClinGen:CA10631671	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*553G>T	5979	RET	Uncertain significance	886046998	RCV000288950\|RCV000294156\|RCV000332648\|RCV000389582;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MedGen:CN239304\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709	10	43624270	43624270	NC_000010.10:g.43624270G>T	ClinGen:CA10628560	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*576G>A	5979	RET	Benign/Likely benign	185408658	RCV000283152\|RCV000340524\|RCV000346203\|RCV000395374;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0017169,MedGen:C0	10	43624293	43624293	NC_000010.10:g.43624293G>A	ClinGen:CA10628561	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*600delinsTT	5979	RET	Uncertain significance	1588882236	RCV000305093\|RCV000352892\|RCV000398518\|RCV000399835;	N	MedGen:CN239304\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709	10	43624317	43624317	NC_000010.10:g.43624317delinsTT	ClinGen:CA10635737	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*749dup	5979	RET	Uncertain significance	886047000	RCV000273880\|RCV000299755\|RCV000331119\|RCV000356820;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN239304\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709	10	43624461	43624462	NC_000010.10:g.43624466dup	ClinGen:CA10635739	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*763C>T	5979	RET	Uncertain significance	886047001	RCV000277277\|RCV000325309\|RCV000369398\|RCV000382566;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MedGen:CN239304\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	10	43624480	43624480	NC_000010.10:g.43624480C>T	ClinGen:CA10635745	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*824G>T	5979	RET	Uncertain significance	886047002	RCV000284745\|RCV000290443\|RCV000329039\|RCV000376622;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedG	10	43624541	43624541	NC_000010.10:g.43624541G>T	ClinGen:CA10628564	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*883G>A	5979	RET	Uncertain significance	1838396430	RCV001103246\|RCV001103247\|RCV001105160\|RCV001105161;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0	10	43624600	43624600	10:g.43624600G>A	-
NM_020975.6(RET):c.*935C>A	5979	RET	Uncertain significance	886047003	RCV000278865\|RCV000336369\|RCV000342111\|RCV000380262;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN239304	10	43624652	43624652	NC_000010.10:g.43624652C>A	ClinGen:CA10628572	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1020G>T	5979	RET	Uncertain significance	886047004	RCV000301310\|RCV000349233\|RCV000390469\|RCV000390198;	N	MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MedGen:CN239304\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161	10	43624737	43624737	NC_000010.10:g.43624737G>T	ClinGen:CA10635746	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1103C>T	5979	RET	Uncertain significance	886047005	RCV000276919\|RCV000307482\|RCV000313199\|RCV000362150;	N	MedGen:CN239304\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161	10	43624820	43624820	NC_000010.10:g.43624820C>T	ClinGen:CA10635747	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1112A>G	5979	RET	Uncertain significance	1353594500	RCV001106292\|RCV001106293\|RCV001106290\|RCV001106291;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:	10	43624829	43624829	10:g.43624829A>G	-
NM_020975.6(RET):c.*1116T>C	5979	RET	Benign	2435355	RCV000260152\|RCV000284603\|RCV000324757\|RCV000379318\|RCV001653477;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:	10	43624833	43624833	NC_000010.10:g.43624833T>C	ClinGen:CA10635748	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1212C>T	5979	RET	Uncertain significance	551902553	RCV000315236\|RCV000351376\|RCV000396896\|RCV000399183;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43624929	43624929	NC_000010.10:g.43624929C>T	ClinGen:CA10635351	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1233T>C	5979	RET	Uncertain significance	886047007	RCV000261730\|RCV000298137\|RCV000311238\|RCV000356720;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN239304\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709	10	43624950	43624950	NC_000010.10:g.43624950T>C	ClinGen:CA10635352	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1278del	5979	RET	Uncertain significance	886047008	RCV000267509\|RCV000322629\|RCV000352985\|RCV000377713;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN239304\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161	10	43624991	43624991	NC_000010.10:g.43624995del	ClinGen:CA10635752	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1337A>T	5979	RET	Uncertain significance	886047009	RCV000264397\|RCV000288888\|RCV000328952\|RCV000383496;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MedGen:CN239304\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161	10	43625054	43625054	10:g.43625054A>T	ClinGen:CA10635753	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1345G>T	5979	RET	Uncertain significance	886047010	RCV000294961\|RCV000325233\|RCV000348963\|RCV000389194;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MedGen:CN239304\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709	10	43625062	43625062	10:g.43625062G>T	ClinGen:CA10631679	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1348G>A	5979	RET	Conflicting interpretations of pathogenicity	149252070	RCV000280995\|RCV000336056\|RCV000395362\|RCV000399812;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:	10	43625065	43625065	10:g.43625065G>A	ClinGen:CA10635757	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1489G>A	5979	RET	Uncertain significance	535080963	RCV000305790\|RCV000302417\|RCV000360640\|RCV000400648;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0	10	43625206	43625206	10:g.43625206G>A	ClinGen:CA10631681	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1516C>T	5979	RET	Uncertain significance	886985086	RCV001108599\|RCV001108598\|RCV001108596\|RCV001108597;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedG	10	43625233	43625233	10:g.43625233C>T	-
NM_020975.6(RET):c.*1533A>G	5979	RET	Uncertain significance	1838409564	RCV001103422\|RCV001103423\|RCV001108600\|RCV001108601;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedG	10	43625250	43625250	10:g.43625250A>G	-
NM_020975.6(RET):c.*1558A>C	5979	RET	Benign/Likely benign	142572876	RCV000276991\|RCV000293204\|RCV000331932\|RCV000386482;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:	10	43625275	43625275	10:g.43625275A>C	ClinGen:CA10631688	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1599G>A	5979	RET	Benign/Likely benign	145954635	RCV000307007\|RCV000310427\|RCV000364996\|RCV000390291;	N	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:	10	43625316	43625316	10:g.43625316G>A	ClinGen:CA10635356	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1644G>C	5979	RET	Conflicting interpretations of pathogenicity	117119161	RCV000276517\|RCV000331623\|RCV000356657\|RCV000370937;	N	MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0	10	43625361	43625361	10:g.43625361G>C	ClinGen:CA10631689	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1646T>G	5979	RET	Uncertain significance	886047011	RCV000261803\|RCV000267584\|RCV000316975\|RCV000371557;	N	MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0	10	43625363	43625363	10:g.43625363T>G	ClinGen:CA10635758	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1659T>C	5979	RET	Uncertain significance	886047012	RCV000282802\|RCV000322689\|RCV000347551\|RCV000377190;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0017169,MedGen:C0	10	43625376	43625376	10:g.43625376T>C	ClinGen:CA10628580	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1742G>A	5979	RET	Likely benign	143369221	RCV000289145\|RCV000344157\|RCV000383450\|RCV000396957;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MedGen:CN239304	10	43625459	43625459	10:g.43625459G>A	ClinGen:CA10628582	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1797T>C	5979	RET	Uncertain significance	886047013	RCV000301023\|RCV000313773\|RCV000349898\|RCV000390500;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:	10	43625514	43625514	10:g.43625514T>C	ClinGen:CA10635357	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1797T>G	5979	RET	Uncertain significance	886047013	RCV000261095\|RCV000297500\|RCV000355872\|RCV000361705;	N	MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0	10	43625514	43625514	10:g.43625514T>G	ClinGen:CA10635762	CN239304 Hirschsprung Disease, Dominant;
NM_020975.6(RET):c.*1812C>A	5979	RET	Conflicting interpretations of pathogenicity	183817000	RCV001103515\|RCV001103516\|RCV001105442\|RCV001105441;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0007723,MedG	10	43625529	43625529	10:g.43625529C>A	-
NM_020975.6(RET):c.*1886T>G	5979	RET	Uncertain significance	1019095754	RCV001105444\|RCV001106585\|RCV001105443\|RCV001106586;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0017169,MedGen:C0	10	43625603	43625603	10:g.43625603T>G	-
NM_020975.6(RET):c.*1900C>A	5979	RET	Uncertain significance	956882000	RCV001106587\|RCV001106588\|RCV001106589\|RCV001106590;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100, Orphanet:276161\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedG	10	43625617	43625617	10:g.43625617C>A	-
NM_020975.6(RET):c.*1969T>C	5979	RET	Benign/Likely benign	3026785	RCV000014982\|RCV000288793\|RCV000380866\|RCV000328614\|RCV000350648\|RCV000662849\|RCV001723569;	N	MedGen:C3888125\|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830, Orphanet:411709\|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0	10	43625686	43625686	10:g.43625686T>C	ClinGen:CA010034,OMIM:164761.0052	CN239304 Hirschsprung Disease, Dominant;
NM_004168.3(SDHA):c.-115T>C	6389	SDHA	Likely benign	2303741	RCV000313041\|RCV000338764\|RCV000400671;	N	MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	5	218356	218356	NC_000005.9:g.218356T>C	ClinGen:CA10624324	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-84dup	6389	SDHA	Likely benign	35805262	RCV000307350\|RCV000370159\|RCV000399941;	N	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208	5	218381	218382	NC_000005.9:g.218387dup	ClinGen:CA10621606	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-63G>A	6389	SDHA	Uncertain significance	886060513	RCV000272151\|RCV000329506\|RCV000364389;	N	MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	5	218408	218408	NC_000005.9:g.218408G>A	ClinGen:CA10621607	C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.1909-12_1909-11del	6389	SDHA	Conflicting interpretations of pathogenicity	372662724	RCV000281629\|RCV000337728\|RCV000394391\|RCV000483037\|RCV000492532\|RCV001354980\|RCV002061279;	N	MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011, Orphanet:3208\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN169374\|MONDO:MONDO:001	5	256435	256436	NC_000005.9:g.256435CT[1]	ClinGen:CA3173456	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.370+12G>A	54949	SDHAF2	Conflicting interpretations of pathogenicity	886048415	RCV000336073\|RCV002056210;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072	11	61205597	61205597	NC_000011.9:g.61205597G>A	ClinGen:CA10631071	C0031511 171300 Pheochromocytoma;
NM_017841.4(SDHAF2):c.*113C>A	54949	SDHAF2	Uncertain significance	886048416	RCV000314128;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	61213656	61213656	NC_000011.9:g.61213656C>A	ClinGen:CA10638835	C0031511 171300 Pheochromocytoma;
NM_017841.4(SDHAF2):c.*170C>A	54949	SDHAF2	Uncertain significance	886048417	RCV000352611;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	61213713	61213713	NC_000011.9:g.61213713C>A	ClinGen:CA10638836	C0031511 171300 Pheochromocytoma;
NM_017841.4(SDHAF2):c.*172del	54949	SDHAF2	Uncertain significance	537244040	RCV000408068;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	61213714	61213714	NC_000011.9:g.61213715del	ClinGen:CA10635116	C0031511 171300 Pheochromocytoma;
NM_017841.4(SDHAF2):c.*627G>T	54949	SDHAF2	Uncertain significance	886048422	RCV000353316;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	61214170	61214170	NC_000011.9:g.61214170G>T	ClinGen:CA10631077	C0031511 171300 Pheochromocytoma;
NM_017841.4(SDHAF2):c.*653A>G	54949	SDHAF2	Uncertain significance	886048423	RCV000260795;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	61214196	61214196	NC_000011.9:g.61214196A>G	ClinGen:CA10638840	C0031511 171300 Pheochromocytoma;
NM_003000.2(SDHB):c.-151_*159del	6390	SDHB	Pathogenic	-1	RCV000227793;	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	17345217	17380665		-	C0238198 606764 Gastrointestinal stroma tumor;
NC_000001.11:g.(?_17018871)_(17054029_?)del	6390	SDHB	Pathogenic	-1	RCV000800672;	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	17345366	17380524		-
NC_000001.11:g.(?_17018871)_(17018968_?)del	6390	SDHB	Pathogenic	-1	RCV000803920;	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	17345366	17345463		-
NC_000001.11:g.(?_17018871)_(17033155_?)del	6390	SDHB	Pathogenic	-1	RCV001031344;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345366	17359650	-1	-
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; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345366	17371393	-1	-
NC_000001.10:g.(?_17345370)_(17355237_?)dup	6390	SDHB	Uncertain significance	-1	RCV000633992;	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	17345370	17355237		-	C0238198 606764 Gastrointestinal stroma tumor;
NC_000001.11:g.(?_17018881)_(17044898_?)del	6390	SDHB	Pathogenic	-1	RCV001032051;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345376	17371393	-1	-
NC_000001.10:g.(?_17345376)_(17345463_?)del	6390	SDHB	Pathogenic	-1	RCV001385634;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345376	17345463	-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; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345376	17371403	-1	-
NC_000001.10:g.(?_17345376)_(17359650_?)del	6390	SDHB	Pathogenic	-1	RCV001932317;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345376	17359650	-1	-
NM_003000.3(SDHB):c.837A>G (p.Ser279=)	6390	SDHB	Likely benign	770120161	RCV000927818\|RCV001017647;	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	17345382	17345382	1:g.17345382T>C	-
NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)	6390	SDHB	Uncertain significance	-1	RCV003066129;	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	17345387	17345387	NC_000001.10:g.17345387C>G	-
NM_003000.3(SDHB):c.823_825del (p.Glu275del)	6390	SDHB	Uncertain significance	1221042239	RCV001061121;	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	17345394	17345396	1:g.17345394_17345396del	-
NM_003000.3(SDHB):c.820A>G (p.Lys274Glu)	6390	SDHB	Uncertain significance	1273897502	RCV000544666\|RCV001584250\|RCV002431564\|RCV003476242;	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	17345399	17345399	1:g.17345399T>C	ClinGen:CA338268787	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)	6390	SDHB	Uncertain significance	1553176966	RCV000633946;	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	17345400	17345400	1:g.17345400A>T	ClinGen:CA338268791	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.819T>C (p.Tyr273=)	6390	SDHB	Likely benign	-1	RCV002731161\|RCV003308256;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345400	17345400		-
NM_003000.3(SDHB):c.818A>T (p.Tyr273Phe)	6390	SDHB	Uncertain significance	773523792	RCV000570384\|RCV001063468;	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	17345401	17345401	1:g.17345401T>A	ClinGen:CA338268794	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.812C>T (p.Ala271Val)	6390	SDHB	Uncertain significance	2077945936	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	17345407	-
NM_003000.3(SDHB):c.811G>C (p.Ala271Pro)	6390	SDHB	Uncertain significance	-1	RCV002594096;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345408	17345408	NC_000001.10:g.17345408C>G	-
NM_003000.3(SDHB):c.808A>G (p.Met270Val)	6390	SDHB	Uncertain significance	878854584	RCV000233159;	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	17345411	17345411	1:g.17345411T>C	ClinGen:CA10581739	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.805A>G (p.Met269Val)	6390	SDHB	Uncertain significance	749612417	RCV000793539;	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	17345414	17345414	1:g.17345414T>C	-
NM_003000.3(SDHB):c.802A>T (p.Lys268Ter)	6390	SDHB	Uncertain significance	1060503755	RCV000473417;	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	17345417	17345417	NC_000001.10:g.17345417T>A	ClinGen:CA16609907	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)	6390	SDHB	Uncertain significance	771388711	RCV000691533;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345418	17345418	NC_000001.10:g.17345418C>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)	6390	SDHB	Uncertain significance	2077946088	RCV001226419;	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	17345420	17345420	1:g.17345420T>C	-
NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)	6390	SDHB	Uncertain significance	2101508231	RCV001371987\|RCV002420837;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345426	17345426	17345426	-
NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)	6390	SDHB	Uncertain significance	1557738283	RCV000687486\|RCV002422477;	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	17345428	17345428	NC_000001.10:g.17345428G>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.789T>C (p.Ile263=)	6390	SDHB	Likely benign	1395418494	RCV001026924\|RCV001471575;	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	17345430	17345430	1:g.17345430A>G	-
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)	6390	SDHB	Likely pathogenic	1553176976	RCV000485215\|RCV000696403\|RCV002413330;	N	MedGen:C3661900\|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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen	1	17345431	17345432	NC_000001.10:g.17345433_17345436dup	ClinGen:CA16617019	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.787A>G (p.Ile263Val)	6390	SDHB	Uncertain significance	-1	RCV002412297\|RCV003099771;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17345432	17345432	17345432	-
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs)	6390	SDHB	Likely pathogenic	1553176979	RCV000633976;	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	17345433	17345434	1:g.17345433_17345434insC	ClinGen:CA658795401	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.785C>T (p.Ala262Val)	6390	SDHB	Uncertain significance	776093267	RCV002050184;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345434	17345434	17345434	-
NM_003000.3(SDHB):c.783A>G (p.Lys261=)	6390	SDHB	Likely benign	1060505014	RCV000470055\|RCV002413312;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345436	17345436	NC_000001.10:g.17345436T>C	ClinGen:CA16609913	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.782A>C (p.Lys261Thr)	6390	SDHB	Uncertain significance	1553176980	RCV000544462\|RCV003302798\|RCV003476241;	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	17345437	17345437	1:g.17345437T>G	ClinGen:CA338268983	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.780dup (p.Lys261fs)	6390	SDHB	Likely pathogenic	1557738304	RCV000698551\|RCV003303166;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345438	17345439	NC_000001.10:g.17345441dup	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.779G>A (p.Gly260Glu)	6390	SDHB	Uncertain significance	-1	RCV002625876;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345440	17345440	NC_000001.10:g.17345440C>T	-
NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)	6390	SDHB	Uncertain significance	1187293049	RCV001215579;	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	17345441	17345441	1:g.17345441C>G	-
NM_003000.3(SDHB):c.777A>T (p.Pro259=)	6390	SDHB	Likely benign	2101508283	RCV001487948;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345442	17345442	17345442	-
NM_003000.3(SDHB):c.775C>A (p.Pro259Thr)	6390	SDHB	Uncertain significance	2077946320	RCV001205531;	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	17345444	17345444	1:g.17345444G>T	-
NM_003000.3(SDHB):c.773A>C (p.Asn258Thr)	6390	SDHB	Uncertain significance	1570942645	RCV000810177;	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	17345446	17345446	1:g.17345446T>G	-
NM_003000.3(SDHB):c.772A>C (p.Asn258His)	6390	SDHB	Uncertain significance	2077946345	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	17345447	-
NM_003000.3(SDHB):c.770T>G (p.Leu257Arg)	6390	SDHB	Uncertain significance	1570942652	RCV000809744;	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	17345449	17345449	1:g.17345449A>C	-
NM_003000.3(SDHB):c.768T>C (p.Gly256=)	6390	SDHB	Likely benign	1060505017	RCV000457750\|RCV002402373;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345451	17345451	1:g.17345451A>G	ClinGen:CA16609915	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.766-6T>C	6390	SDHB	Likely benign	1553176984	RCV000633987;	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	17345459	17345459	1:g.17345459A>G	ClinGen:CA658795402	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.766-11C>G	6390	SDHB	Likely benign	-1	RCV003112701;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17345464	17345464	NC_000001.10:g.17345464G>C	-
NM_003000.3(SDHB):c.766-21_766-19del	6390	SDHB	Likely benign	-1	RCV002599582;	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	17345472	17345474	NC_000001.10:g.17345472_17345474del	-
NM_003000.3(SDHB):c.743_765+36del	6390	SDHB	Pathogenic	2101513438	RCV001999969;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349067	17349125	17349066	-
NM_003000.3(SDHB):c.761_765+33del	6390	SDHB	Pathogenic	2077967597	RCV001237722;	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	17349070	17349107	1:g.17349070_17349107del	-
NM_003000.3(SDHB):c.765+16G>T	6390	SDHB	Likely benign	-1	RCV002889366;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349087	17349087	NC_000001.10:g.17349087C>A	-
NM_003000.3(SDHB):c.765+13G>A	6390	SDHB	Benign/Likely benign	115561881	RCV000245434\|RCV000411316\|RCV002058131;	N	MedGen:CN169374\|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	17349090	17349090	NC_000001.10:g.17349090C>T	ClinGen:CA089747	CN169374 not specified;
NM_003000.3(SDHB):c.765+9G>T	6390	SDHB	Likely benign	-1	RCV002903346;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349094	17349094	NC_000001.10:g.17349094C>A	-
NM_003000.3(SDHB):c.765+8G>A	6390	SDHB	Likely benign	1553177265	RCV000633989;	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	17349095	17349095	1:g.17349095C>T	ClinGen:CA658795405	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.765+8G>T	6390	SDHB	Likely benign	1553177265	RCV001437867;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349095	17349095	17349095	-
NM_003000.3(SDHB):c.765+6T>C	6390	SDHB	Uncertain significance	2101513489	RCV001372335;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349097	17349097	17349097	-
NC_000001.10:g.(?_17349097)_(17359646_?)dup	6390	SDHB	Likely pathogenic	-1	RCV001379640;	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	17349097	17359646	-1	-
NM_003000.3(SDHB):c.765+5G>T	6390	SDHB	Uncertain significance	199945904	RCV000213200\|RCV002519678;	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	17349098	17349098	1:g.17349098C>A	ClinGen:CA10577668	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.756_765+4del	6390	SDHB	Likely pathogenic	1553177267	RCV000531863;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349099	17349112	1:g.17349099_17349112del	ClinGen:CA658656880	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.765+4C>T	6390	SDHB	Conflicting interpretations of pathogenicity	776039903	RCV000701556\|RCV001026666;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349099	17349099	NC_000001.10:g.17349099G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.765+4C>A	6390	SDHB	Uncertain significance	776039903	RCV000795978;	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	17349099	17349099	1:g.17349099G>T	-
NM_003000.3(SDHB):c.765+3A>T	6390	SDHB	Uncertain significance	2077967877	RCV001039278;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349100	17349100	1:g.17349100T>A	-
NM_003000.3(SDHB):c.765G>C (p.Lys255Asn)	6390	SDHB	Uncertain significance	761295633	RCV000815177;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349103	17349103	1:g.17349103C>G	-
NM_003000.3(SDHB):c.763A>G (p.Lys255Glu)	6390	SDHB	Uncertain significance	1570944737	RCV000813402;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349105	17349105	1:g.17349105T>C	-
NM_003000.3(SDHB):c.762T>C (p.Pro254=)	6390	SDHB	Likely benign	2101513519	RCV001419763\|RCV002395956;	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	17349106	17349106	17349106	-
NM_003000.3(SDHB):c.759T>C (p.Cys253=)	6390	SDHB	Likely benign	2101513546	RCV002148338;	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	17349109	17349109	17349109	-
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)	6390	SDHB	Likely pathogenic	786201085	RCV000162580\|RCV001040032;	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	17349110	17349110	1:g.17349110C>T	ClinGen:CA016171	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.755C>T (p.Thr252Ile)	6390	SDHB	Uncertain significance	-1	RCV002394009\|RCV003099677;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17349113	17349113	17349113	-
NM_003000.3(SDHB):c.753G>T (p.Arg251Ser)	6390	SDHB	Uncertain significance	201094649	RCV001240523\|RCV002393618;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349115	17349115	1:g.17349115C>A	-
NM_003000.3(SDHB):c.753G>A (p.Arg251=)	6390	SDHB	Likely benign	201094649	RCV001437820\|RCV002396007;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349115	17349115	17349115	-
NM_003000.3(SDHB):c.743A>G (p.Asn248Ser)	6390	SDHB	Uncertain significance	2077968083	RCV001323020;	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	17349125	17349125	17349125	-
NM_003000.3(SDHB):c.741G>T (p.Met247Ile)	6390	SDHB	Uncertain significance	2077968110	RCV001236140;	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	17349127	17349127	1:g.17349127C>A	-
NM_003000.3(SDHB):c.741G>A (p.Met247Ile)	6390	SDHB	Uncertain significance	2077968110	RCV001325002\|RCV002384433;	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	17349127	17349127	17349127	-
NM_003000.3(SDHB):c.739A>G (p.Met247Val)	6390	SDHB	Uncertain significance	200896502	RCV000543096\|RCV000575911\|RCV003237901\|RCV003409778\|RCV003476240;	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	17349129	17349129	1:g.17349129T>C	ClinGen:CA089742	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.738C>G (p.Ile246Met)	6390	SDHB	Uncertain significance	1476198465	RCV002034109;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349130	17349130	17349130	-
NM_003000.3(SDHB):c.737T>G (p.Ile246Ser)	6390	SDHB	Uncertain significance	1570944778	RCV001302135;	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	17349131	17349131	17349131	-
NM_003000.3(SDHB):c.734C>T (p.Thr245Ile)	6390	SDHB	Uncertain significance	-1	RCV002838873;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349134	17349134	NC_000001.10:g.17349134G>A	-
NM_003000.3(SDHB):c.733A>G (p.Thr245Ala)	6390	SDHB	Uncertain significance	-1	RCV003047197\|RCV003170928;	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	17349135	17349135	NC_000001.10:g.17349135T>C	-
NM_003000.3(SDHB):c.732C>T (p.His244=)	6390	SDHB	Likely benign	1570944785	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	1:g.17349136G>A	-
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp)	6390	SDHB	Likely pathogenic	2101513669	RCV002033119;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349139	17349139	17349139	-
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)	6390	SDHB	Pathogenic	587781266	RCV000013621\|RCV000128877\|RCV001034689\|RCV001797588;	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; MONDO:MONDO:0007273,MedGen	1	17349149	17349152	NC_000001.10:g.17349150GA[1]	ClinGen:CA016120,OMIM:185470.0005	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.717T>C (p.Ser239=)	6390	SDHB	Likely benign	2101513742	RCV001422123;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349151	17349151	17349151	-
NM_003000.3(SDHB):c.717T>A (p.Ser239=)	6390	SDHB	Likely benign	2101513742	RCV001505142;	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	17349151	17349151	17349151	-
NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)	6390	SDHB	Uncertain significance	201098090	RCV000148869\|RCV000795778\|RCV001026110\|RCV001775634\|RCV003474795\|RCV003320576;	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	17349152	17349152	1:g.17349152G>C	ClinGen:CA016128	C0031511 171300 Pheochromocytoma;
NM_003000.3(SDHB):c.716C>A (p.Ser239Tyr)	6390	SDHB	Uncertain significance	201098090	RCV000700844;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349152	17349152	NC_000001.10:g.17349152G>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.715T>C (p.Ser239Pro)	6390	SDHB	Uncertain significance	2101513765	RCV001892128;	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	17349153	17349153	17349153	-
NM_003000.3(SDHB):c.713del (p.Phe238fs)	6390	SDHB	Pathogenic	876660642	RCV000221959\|RCV001233559\|RCV003227723;	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	17349155	17349155	1:g.17349155_17349155del	ClinGen:CA10577669	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)	6390	SDHB	Uncertain significance	1553177279	RCV000569670\|RCV001207029;	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	17349155	17349155	1:g.17349155A>G	ClinGen:CA338270254	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.711A>C (p.Pro237=)	6390	SDHB	Likely benign	1570944839	RCV002179475;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349157	17349157	17349157	-
NM_003000.3(SDHB):c.710C>T (p.Pro237Leu)	6390	SDHB	Uncertain significance	878854579	RCV001337406;	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	17349158	17349158	17349158	-
NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer)	6390	SDHB	Pathogenic	1570944850	RCV000820083;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349160	17349161	1:g.17349160_17349161insTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCA	-
NM_003000.3(SDHB):c.706G>A (p.Asp236Asn)	6390	SDHB	Uncertain significance	2077968555	RCV001069271;	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	17349162	17349162	1:g.17349162C>T	-
NM_003000.3(SDHB):c.705G>C (p.Gln235His)	6390	SDHB	Uncertain significance	1570944851	RCV001025981\|RCV001776087\|RCV002304229;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|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	17349163	17349163	1:g.17349163C>G	-
NM_003000.3(SDHB):c.704A>G (p.Gln235Arg)	6390	SDHB	Uncertain significance	1570944853	RCV000808084;	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	17349164	17349164	1:g.17349164T>C	-
NM_003000.3(SDHB):c.702G>A (p.Leu234=)	6390	SDHB	Likely benign	-1	RCV002364917\|RCV003098452;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17349166	17349166		-
NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)	6390	SDHB	Uncertain significance	786202913	RCV000165977\|RCV001056293\|RCV002469038;	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	1:g.17349167A>T	ClinGen:CA016109	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.700C>G (p.Leu234Val)	6390	SDHB	Uncertain significance	-1	RCV002378251\|RCV003103354;	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	17349168	17349168	17349168	-
NM_003000.3(SDHB):c.699G>A (p.Lys233=)	6390	SDHB	Likely benign	-1	RCV003064007;	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	17349169	17349169		-
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)	6390	SDHB	Pathogenic	1553177285	RCV000534002;	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	17349171	17349171	NC_000001.10:g.17349171T>A	ClinGen:CA338270321	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.696C>T (p.Ala232=)	6390	SDHB	Likely benign	779143585	RCV000633982\|RCV001821794\|RCV002360533;	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	17349172	17349172	1:g.17349172G>A	ClinGen:CA089710	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.693G>A (p.Leu231=)	6390	SDHB	Likely benign	2101513857	RCV001446997;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349175	17349175	17349175	-
NM_003000.3(SDHB):c.689G>A (p.Arg230His)	6390	SDHB	Pathogenic/Likely pathogenic	587782604	RCV000131970\|RCV000183215\|RCV000456660\|RCV000505312\|RCV000660259\|RCV000762865\|RCV001310280\|RCV003474782;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedG	1	17349179	17349179	1:g.17349179C>T	OMIM:185470.0023,ClinGen:CA016085	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)	6390	SDHB	Pathogenic/Likely pathogenic	138996609	RCV000164435\|RCV000505374\|RCV000520697\|RCV000528137\|RCV000660258;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,Me	1	17349180	17349180	1:g.17349180G>A	ClinGen:CA016074,UniProtKB:P21912#VAR_054383	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)	6390	SDHB	Pathogenic	-1	RCV002362153\|RCV003103339;	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	17349180	17349181	17349180	-
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)	6390	SDHB	Pathogenic	1209914140	RCV000547430;	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	17349182	17349183	NC_000001.10:g.17349193_17349194insCGCCTCTGTGAAG	ClinGen:CA521037681	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)	6390	SDHB	Pathogenic	762812025	RCV000505318\|RCV000798175\|RCV001025703;	N	MONDO:MONDO:0017366,MedGen:C1708353, 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:606764,Orphan	1	17349184	17349185	NC_000001.10:g.17349184_17349185delCT	ClinGen:CA089708	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.684G>A (p.Glu228=)	6390	SDHB	Likely benign	2101513893	RCV002269232\|RCV003101533;	N	MedGen:CN169374\|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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen	1	17349184	17349184		-
NM_003000.3(SDHB):c.683A>C (p.Glu228Ala)	6390	SDHB	Uncertain significance	-1	RCV002362053\|RCV003098399;	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	17349185	17349185	17349185	-
NM_003000.3(SDHB):c.680C>T (p.Thr227Ile)	6390	SDHB	Uncertain significance	1486615365	RCV001370670;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349188	17349188	17349188	-
NM_003000.3(SDHB):c.680C>A (p.Thr227Lys)	6390	SDHB	Uncertain significance	1486615365	RCV002029841;	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	17349188	17349188	17349188	-
NM_003000.3(SDHB):c.677del (p.Phe226fs)	6390	SDHB	Pathogenic	2077968833	RCV001042429;	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	17349191	17349191	1:g.17349191_17349191del	-
NM_003000.3(SDHB):c.676T>C (p.Phe226Leu)	6390	SDHB	Uncertain significance	1570944911	RCV000795787;	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	17349192	17349192	1:g.17349192A>G	-
NM_003000.3(SDHB):c.673G>A (p.Asp225Asn)	6390	SDHB	Uncertain significance	1570944919	RCV000821533;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349195	17349195	1:g.17349195C>T	-
NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer)	6390	SDHB	Pathogenic	-1	RCV002876927;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349201	17349202	NC_000001.10:g.17349201_17349202del	-
NM_003000.3(SDHB):c.664T>G (p.Ser222Ala)	6390	SDHB	Uncertain significance	2101513953	RCV001952942;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349204	17349204	17349204	-
NM_003000.3(SDHB):c.663C>T (p.Asp221=)	6390	SDHB	Likely benign	1475864409	RCV001419035;	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	17349205	17349205	17349205	-
NM_003000.3(SDHB):c.662A>G (p.Asp221Gly)	6390	SDHB	Uncertain significance	2101513961	RCV001786529;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	17349206	17349206	17349206	-
NM_003000.3(SDHB):c.661G>A (p.Asp221Asn)	6390	SDHB	Uncertain significance	1553177288	RCV000633971;	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	17349207	17349207	1:g.17349207C>T	ClinGen:CA338270470	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.658A>G (p.Ile220Val)	6390	SDHB	Uncertain significance	1188548211	RCV000633961\|RCV002360531;	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	17349210	17349210	NC_000001.10:g.17349210T>C	ClinGen:CA338270477	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.657G>T (p.Met219Ile)	6390	SDHB	Uncertain significance	-1	RCV002863491;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349211	17349211	NC_000001.10:g.17349211C>A	-
NM_003000.3(SDHB):c.647A>G (p.Tyr216Cys)	6390	SDHB	Uncertain significance	1553177291	RCV000572107\|RCV000633963;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17349221	17349221	1:g.17349221T>C	ClinGen:CA338270510	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.644C>A (p.Ala215Asp)	6390	SDHB	Uncertain significance	1060503761	RCV001025276\|RCV002550909;	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	17349224	17349224	1:g.17349224G>T	-
NM_003000.3(SDHB):c.643-8_643-3del	6390	SDHB	Uncertain significance	2077969156	RCV001214438;	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	17349228	17349233	1:g.17349228_17349233del	-
NM_003000.3(SDHB):c.643-8T>C	6390	SDHB	Likely benign	2101514064	RCV001426660;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349233	17349233	17349233	-
NM_003000.3(SDHB):c.643-9G>A	6390	SDHB	Likely benign	-1	RCV002858651;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349234	17349234	NC_000001.10:g.17349234C>T	-
NM_003000.3(SDHB):c.643-11T>C	6390	SDHB	Likely benign	-1	RCV002863175;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349236	17349236	NC_000001.10:g.17349236A>G	-
NM_003000.3(SDHB):c.643-12C>G	6390	SDHB	Likely benign	2101514078	RCV002081335;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17349237	17349237	17349237	-
NM_003000.3(SDHB):c.643-15T>C	6390	SDHB	Likely benign	-1	RCV003069420;	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	17349240	17349240	NC_000001.10:g.17349240A>G	-
NM_003000.3(SDHB):c.643-16A>G	6390	SDHB	Likely benign	-1	RCV002647342;	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	17349241	17349241	NC_000001.10:g.17349241T>C	-
NM_003000.3(SDHB):c.643-17C>T	6390	SDHB	Likely benign	2101514084	RCV002136172;	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	17349242	17349242	17349242	-
NM_003000.3(SDHB):c.642+14_642+25del	6390	SDHB	Likely benign	763857045	RCV002172266;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350443	17350454	17350442	-
NM_003000.3(SDHB):c.642+20C>G	6390	SDHB	Likely benign	-1	RCV003012577;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350448	17350448	NC_000001.10:g.17350448G>C	-
NM_003000.3(SDHB):c.642+10T>C	6390	SDHB	Likely benign	780427803	RCV000633983;	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	17350458	17350458	1:g.17350458A>G	ClinGen:CA089683	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.642+9C>T	6390	SDHB	Likely benign	-1	RCV003060360;	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	NC_000001.10:g.17350459G>A	-
NM_003000.3(SDHB):c.642+8G>A	6390	SDHB	Likely benign	-1	RCV002619542;	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	17350460	17350460	NC_000001.10:g.17350460C>T	-
NM_003000.3(SDHB):c.642+7T>C	6390	SDHB	Likely benign	747423037	RCV000633980;	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	17350461	17350461	1:g.17350461A>G	ClinGen:CA089692	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.642_642+6del	6390	SDHB	Pathogenic/Likely pathogenic	876660368	RCV000215647\|RCV001854690;	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	17350462	17350468	1:g.17350462_17350468del	ClinGen:CA10577670	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.642+6G>A	6390	SDHB	Uncertain significance	1326333007	RCV001359531;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350462	17350462	17350462	-
NM_003000.3(SDHB):c.642+5G>A	6390	SDHB	Uncertain significance	755486893	RCV000809006\|RCV002363086;	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	17350463	17350463	1:g.17350463C>T	-
NM_003000.3(SDHB):c.642+3G>A	6390	SDHB	Uncertain significance	878854577	RCV000228435;	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	17350465	17350465	1:g.17350465C>T	ClinGen:CA10581745	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)	6390	SDHB	Uncertain significance	202014362	RCV000034689\|RCV000462266\|RCV000708782\|RCV002354184\|RCV003473254;	N	MedGen:C3661900\|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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen	1	17350472	17350472	1:g.17350472A>G	ClinGen:CA016054	C0018553 Cowden syndrome;
NM_003000.3(SDHB):c.637dup (p.Met213fs)	6390	SDHB	Pathogenic	-1	RCV002594372;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350472	17350473	NC_000001.10:g.17350473dup	-
NM_003000.3(SDHB):c.637A>T (p.Met213Leu)	6390	SDHB	Uncertain significance	770622939	RCV001025199\|RCV001862314\|RCV003473601;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17350473	17350473	1:g.17350473T>A	-
NM_003000.3(SDHB):c.635T>A (p.Leu212His)	6390	SDHB	Uncertain significance	1307247907	RCV001204449\|RCV001796384;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350475	17350475	1:g.17350475A>T	-
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)	6390	SDHB	Conflicting interpretations of pathogenicity	1228560456	RCV000565195\|RCV000697509;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17350476	17350476	1:g.17350476G>A	ClinGen:CA338270937	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.634C>G (p.Leu212Val)	6390	SDHB	Conflicting interpretations of pathogenicity	1228560456	RCV001206205\|RCV002365929;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350476	17350476	1:g.17350476G>C	-
NM_003000.3(SDHB):c.631G>C (p.Val211Leu)	6390	SDHB	Uncertain significance	2077977582	RCV002050222\|RCV002361089;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350479	17350479	17350479	-
NM_003000.3(SDHB):c.629C>T (p.Ala210Val)	6390	SDHB	Uncertain significance	1252727177	RCV001325346\|RCV001751630;	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	17350481	17350481	17350481	-
NM_003000.3(SDHB):c.626C>G (p.Pro209Arg)	6390	SDHB	Uncertain significance	2077977622	RCV001223405;	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	17350484	17350484	1:g.17350484G>C	-
NM_003000.3(SDHB):c.624G>T (p.Gly208=)	6390	SDHB	Likely benign	1214592422	RCV001025046\|RCV001478985;	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	17350486	17350486	1:g.17350486C>A	-
NM_003000.3(SDHB):c.609_622dup (p.Gly208fs)	6390	SDHB	Pathogenic	1570945796	RCV000795584;	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	17350487	17350488	1:g.17350487_17350488insCCAGATATTTGTCT	-
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)	6390	SDHB	Pathogenic/Likely pathogenic	-1	RCV002366610\|RCV003103280\|RCV003475353;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17350487	17350487	17350487	-
NM_003000.3(SDHB):c.620_621del (p.Leu207fs)	6390	SDHB	Pathogenic	1060503752	RCV000471748;	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	17350489	17350490	NC_000001.10:g.17350489_17350490del	ClinGen:CA16609920	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.619C>T (p.Leu207=)	6390	SDHB	Likely benign	1570945806	RCV001394565;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350491	17350491	1:g.17350491G>A	-
NM_003000.3(SDHB):c.617A>G (p.Tyr206Cys)	6390	SDHB	Uncertain significance	-1	RCV002353744\|RCV003098157;	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	17350493	17350493	17350493	-
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)	6390	SDHB	Pathogenic	587782617	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; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17350494	17350503	1:g.17350494_17350503del	ClinGen:CA016035	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.609A>C (p.Gly203=)	6390	SDHB	Likely benign	1570945818	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	1:g.17350501T>G	-
NM_003000.3(SDHB):c.608G>C (p.Gly203Ala)	6390	SDHB	Uncertain significance	1553177435	RCV000527439;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350502	17350502	1:g.17350502C>G	ClinGen:CA338271013	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.608del (p.Gly203fs)	6390	SDHB	Pathogenic	1553177436	RCV000633960;	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	17350502	17350502	1:g.17350502_17350502del	ClinGen:CA658795407	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.603G>C (p.Trp201Cys)	6390	SDHB	Uncertain significance	2077977917	RCV001229296;	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	17350507	17350507	1:g.17350507C>G	-
NM_003000.3(SDHB):c.602G>A (p.Trp201Ter)	6390	SDHB	Pathogenic	1060503759	RCV000458792;	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	17350508	17350508	NC_000001.10:g.17350508C>T	ClinGen:CA16609931	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)	6390	SDHB	Likely pathogenic	1557739966	RCV000693104\|RCV001024760;	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	17350512	17350512	NC_000001.10:g.17350512A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.598del (p.Trp200fs)	6390	SDHB	Pathogenic	2101516424	RCV001934749;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350512	17350512	17350511	-
NM_003000.3(SDHB):c.596A>G (p.Tyr199Cys)	6390	SDHB	Uncertain significance	2077978220	RCV001211889;	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	17350514	17350514	1:g.17350514T>C	-
NM_003000.3(SDHB):c.593G>C (p.Ser198Thr)	6390	SDHB	Uncertain significance	1570945857	RCV000804255\|RCV002352375;	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	17350517	17350517	1:g.17350517C>G	-
NM_003000.3(SDHB):c.592A>C (p.Ser198Arg)	6390	SDHB	Uncertain significance	2077978250	RCV001062177;	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	17350518	17350518	1:g.17350518T>G	-
NM_003000.3(SDHB):c.591C>T (p.Pro197=)	6390	SDHB	Likely benign	-1	RCV003036008;	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	17350519	17350519		-
NM_003000.3(SDHB):c.590C>T (p.Pro197Leu)	6390	SDHB	Uncertain significance	-1	RCV002730144;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350520	17350520	NC_000001.10:g.17350520G>A	-
NM_003000.3(SDHB):c.588C>T (p.Cys196=)	6390	SDHB	Likely benign	1060505015	RCV000462172\|RCV002356761;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350522	17350522	NC_000001.10:g.17350522G>A	ClinGen:CA16609933	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.582C>T (p.Thr194=)	6390	SDHB	Conflicting interpretations of pathogenicity	775450654	RCV000874457\|RCV001024576\|RCV003148889;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350528	17350528	1:g.17350528G>A	-
NM_003000.3(SDHB):c.581C>G (p.Thr194Ser)	6390	SDHB	Uncertain significance	200535030	RCV000633950\|RCV002358780\|RCV003332216;	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	17350529	17350529	1:g.17350529G>C	ClinGen:CA18663196	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.578G>A (p.Ser193Asn)	6390	SDHB	Uncertain significance	2077978395	RCV001309362\|RCV002357123;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350532	17350532	17350532	-
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)	6390	SDHB	Pathogenic	397516835	RCV000130852\|RCV000505338\|RCV002514739;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MO	1	17350535	17350535	1:g.17350535C>T	ClinGen:CA015982	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)	6390	SDHB	Pathogenic	786202732	RCV000165688\|RCV000482399\|RCV000505299\|RCV000821774\|RCV003316045;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,Me	1	17350536	17350536	1:g.17350536A>G	ClinGen:CA015973,UniProtKB:P21912#VAR_035066	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)	6390	SDHB	Pathogenic/Likely pathogenic	2077978456	RCV001253160\|RCV001387122\|RCV002290664\|RCV003365294;	N	Human Phenotype Ontology:HP:0005933,Human Phenotype Ontology:HP:0009726,MONDO:MONDO:0021163,MedGen:C0022665\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MOND	1	17350538	17350538	1:g.17350538C>T	-
NM_003000.3(SDHB):c.569C>T (p.Ala190Val)	6390	SDHB	Uncertain significance	201900648	RCV002011566\|RCV003355769;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350541	17350541	17350541	-
NM_003000.3(SDHB):c.568G>A (p.Ala190Thr)	6390	SDHB	Uncertain significance	199789177	RCV001305161;	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	17350542	17350542	17350542	-
NM_003000.3(SDHB):c.568G>T (p.Ala190Ser)	6390	SDHB	Uncertain significance	-1	RCV002347472\|RCV003103215;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17350542	17350542	17350542	-
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)	6390	SDHB	Pathogenic/Likely pathogenic	876658540	RCV000215934\|RCV000505376\|RCV001327188;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OM	1	17350544	17350544	1:g.17350544C>A	ClinGen:CA10577673	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)	6390	SDHB	Likely pathogenic	-1	RCV002648129;	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	17350544	17350544	NC_000001.10:g.17350544C>T	-
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)	6390	SDHB	Uncertain significance	2077978513	RCV001224869;	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	17350545	17350545	1:g.17350545A>G	-
NM_003000.3(SDHB):c.564C>T (p.Leu188=)	6390	SDHB	Likely benign	776487215	RCV001413806\|RCV002350798;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350546	17350546	17350546	-
NM_003000.3(SDHB):c.560T>A (p.Ile187Asn)	6390	SDHB	Uncertain significance	-1	RCV002295889;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350550	17350550	17350550	-
NM_003000.3(SDHB):c.559A>C (p.Ile187Leu)	6390	SDHB	Uncertain significance	-1	RCV002810533;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350551	17350551	NC_000001.10:g.17350551T>G	-
NM_003000.3(SDHB):c.558C>T (p.Cys186=)	6390	SDHB	Likely benign	1570945906	RCV000934151\|RCV002346110;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350552	17350552	1:g.17350552G>A	-
NM_003000.3(SDHB):c.557G>C (p.Cys186Ser)	6390	SDHB	Uncertain significance	1553177440	RCV000535282;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350553	17350553	1:g.17350553C>G	ClinGen:CA338271376	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys)	6390	SDHB	Uncertain significance	1045881797	RCV000571471\|RCV000695840\|RCV002483542;	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	17350557	17350557	1:g.17350557C>T	ClinGen:CA18663233	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.553G>C (p.Glu185Gln)	6390	SDHB	Uncertain significance	1045881797	RCV001210662;	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	17350557	17350557	1:g.17350557C>G	-
NM_003000.3(SDHB):c.551A>G (p.Tyr184Cys)	6390	SDHB	Uncertain significance	2101516629	RCV002032944;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350559	17350559	17350559	-
NM_003000.3(SDHB):c.550T>C (p.Tyr184His)	6390	SDHB	Uncertain significance	1553177442	RCV000563200\|RCV001215617;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17350560	17350560	1:g.17350560A>G	ClinGen:CA338271439	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.549C>T (p.Leu183=)	6390	SDHB	Likely benign	1411654404	RCV000575316\|RCV000983548;	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	17350561	17350561	NC_000001.10:g.17350561G>A	ClinGen:CA416083972	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.547C>T (p.Leu183Phe)	6390	SDHB	Uncertain significance	1557740003	RCV000703565\|RCV001543112\|RCV003165894;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350563	17350563	NC_000001.10:g.17350563G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.545G>C (p.Gly182Ala)	6390	SDHB	Uncertain significance	1570945931	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	1:g.17350565C>G	-
NM_003000.3(SDHB):c.544G>T (p.Gly182Trp)	6390	SDHB	Uncertain significance	201928318	RCV000818427;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350566	17350566	1:g.17350566C>A	-
NM_003000.3(SDHB):c.543C>T (p.Asp181=)	6390	SDHB	Likely benign	199809975	RCV000561330\|RCV000841202\|RCV001082193;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedG	1	17350567	17350567	NC_000001.10:g.17350567G>A	ClinGen:CA089666	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.541-30_541-2dup	6390	SDHB	Likely benign	751159957	RCV001413898\|RCV002350799;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350570	17350571	17350570	-
NM_003000.3(SDHB):c.541-3C>A	6390	SDHB	Uncertain significance	751920183	RCV001926312;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350572	17350572	17350572	-
NM_003000.3(SDHB):c.541-3C>G	6390	SDHB	Uncertain significance	-1	RCV002349437\|RCV003096726;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17350572	17350572	17350572	-
NM_003000.3(SDHB):c.541-5T>C	6390	SDHB	Likely benign	2101516704	RCV001482884\|RCV002350990;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350574	17350574	17350574	-
NM_003000.3(SDHB):c.541-6A>G	6390	SDHB	Likely benign	1195530396	RCV000633979;	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	17350575	17350575	1:g.17350575T>C	ClinGen:CA658795408	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.541-18_541-8dup	6390	SDHB	Likely benign	1553177448	RCV000546563;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350576	17350577	1:g.17350576_17350577insGGGAGAAAAGA	ClinGen:CA658656887	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.541-8C>G	6390	SDHB	Uncertain significance	1570946001	RCV000814086;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350577	17350577	1:g.17350577G>C	-
NM_003000.3(SDHB):c.541-8C>T	6390	SDHB	Likely benign	-1	RCV002801083;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350577	17350577	NC_000001.10:g.17350577G>A	-
NM_003000.3(SDHB):c.541-9C>T	6390	SDHB	Likely benign	755367242	RCV000841519\|RCV001472872;	N	MedGen:C3661900\|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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen	1	17350578	17350578	1:g.17350578G>A	-
NM_003000.3(SDHB):c.541-10C>T	6390	SDHB	Likely benign	200004039	RCV000827259\|RCV001087443;	N	MedGen:C3661900\|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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen	1	17350579	17350579	1:g.17350579G>A	-
NM_003000.3(SDHB):c.541-14_541-13del	6390	SDHB	Likely benign	2101516735	RCV002098771;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350582	17350583	17350581	-
NM_003000.3(SDHB):c.541-14T>C	6390	SDHB	Likely benign	-1	RCV002655002;	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	17350583	17350583	NC_000001.10:g.17350583A>G	-
NM_003000.3(SDHB):c.541-21CT[2]	6390	SDHB	Likely benign	-1	RCV002824481;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350585	17350586	NC_000001.10:g.17350585AG[2]	-
NM_003000.3(SDHB):c.541-17C>G	6390	SDHB	Likely benign	-1	RCV003095647;	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	17350586	17350586	NC_000001.10:g.17350586G>C	-
NM_003000.3(SDHB):c.541-19C>G	6390	SDHB	Likely benign	781716730	RCV002164349;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17350588	17350588	17350588	-
NM_003000.3(SDHB):c.540+16T>C	6390	SDHB	Likely benign	-1	RCV002914436;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354228	17354228	NC_000001.10:g.17354228A>G	-
NM_003000.3(SDHB):c.540_540+13del	6390	SDHB	Likely pathogenic	1553177666	RCV000551202\|RCV001378111;	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:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:	1	17354231	17354244	1:g.17354231_17354244del	ClinGen:CA658656888	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.540+13T>C	6390	SDHB	Likely benign	2101521499	RCV002182154;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354231	17354231	17354231	-
NM_003000.3(SDHB):c.540+11C>G	6390	SDHB	Likely benign	-1	RCV002947781;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354233	17354233	NC_000001.10:g.17354233G>C	-
NM_003000.3(SDHB):c.540+5T>G	6390	SDHB	Uncertain significance	-1	RCV002842769;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354239	17354239	NC_000001.10:g.17354239A>C	-
NM_003000.3(SDHB):c.540+4A>G	6390	SDHB	Uncertain significance	1557741074	RCV000698715;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354240	17354240	1:g.17354240T>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.540+3C>T	6390	SDHB	Uncertain significance	-1	RCV003016687;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354241	17354241	NC_000001.10:g.17354241G>A	-
NM_003000.3(SDHB):c.540+1G>A	6390	SDHB	Likely pathogenic	1553177667	RCV000527325\|RCV001376794;	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:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:	1	17354243	17354243	NC_000001.10:g.17354243C>T	ClinGen:CA338272394	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.537A>G (p.Lys179=)	6390	SDHB	Conflicting interpretations of pathogenicity	-1	RCV002889915\|RCV003167856;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354247	17354247		-
NM_003000.3(SDHB):c.536A>T (p.Lys179Ile)	6390	SDHB	Uncertain significance	1553177670	RCV000533942;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354248	17354248	1:g.17354248T>A	ClinGen:CA338272421	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.534G>T (p.Glu178Asp)	6390	SDHB	Uncertain significance	2077999274	RCV001211513;	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	17354250	17354250	1:g.17354250C>A	-
NM_003000.3(SDHB):c.533A>T (p.Glu178Val)	6390	SDHB	Uncertain significance	2101521549	RCV002001471;	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	17354251	17354251	17354251	-
NM_003000.3(SDHB):c.532G>C (p.Glu178Gln)	6390	SDHB	Uncertain significance	2077999285	RCV001340290;	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	17354252	17354252	17354252	-
NM_003000.3(SDHB):c.523dup (p.Glu175fs)	6390	SDHB	Pathogenic	2077999421	RCV001223247;	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	17354260	17354261	1:g.17354260_17354261insC	-
NM_003000.3(SDHB):c.523G>C (p.Glu175Gln)	6390	SDHB	Uncertain significance	202203339	RCV000633954\|RCV001023786\|RCV003411504;	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	17354261	17354261	NC_000001.10:g.17354261C>G	ClinGen:CA18665895	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.518C>T (p.Ser173Phe)	6390	SDHB	Uncertain significance	895331139	RCV001319772;	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	17354266	17354266	17354266	-
NM_003000.3(SDHB):c.515A>G (p.Gln172Arg)	6390	SDHB	Uncertain significance	2077999528	RCV001367638;	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	17354269	17354269	17354269	-
NM_003000.3(SDHB):c.511C>T (p.Leu171=)	6390	SDHB	Likely benign	780870337	RCV002136069\|RCV002346510;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354273	17354273	17354273	-
NM_003000.3(SDHB):c.508T>C (p.Tyr170His)	6390	SDHB	Uncertain significance	-1	RCV003044004;	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	17354276	17354276	NC_000001.10:g.17354276A>G	-
NM_003000.3(SDHB):c.505C>G (p.Gln169Glu)	6390	SDHB	Uncertain significance	1553177676	RCV001207898\|RCV002339532;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354279	17354279	1:g.17354279G>C	-
NM_003000.3(SDHB):c.503A>G (p.Gln168Arg)	6390	SDHB	Uncertain significance	-1	RCV002834495;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354281	17354281	NC_000001.10:g.17354281T>C	-
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)	6390	SDHB	Pathogenic	1553177677	RCV000525973\|RCV001383002\|RCV002350305;	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:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:	1	17354282	17354282	1:g.17354282G>A	ClinGen:CA338272662	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.501G>T (p.Lys167Asn)	6390	SDHB	Uncertain significance	1570947881	RCV001219779;	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	17354283	17354283	1:g.17354283C>A	-
NM_003000.3(SDHB):c.499A>T (p.Lys167Ter)	6390	SDHB	Pathogenic	1060503753	RCV000463782;	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	17354285	17354285	NC_000001.10:g.17354285T>A	ClinGen:CA16609934	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.491del (p.Gln164fs)	6390	SDHB	Pathogenic	1553177678	RCV000633978\|RCV001567602;	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	17354293	17354293	NC_000001.10:g.17354293del	ClinGen:CA658795404	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)	6390	SDHB	Uncertain significance	769687734	RCV002013250;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354296	17354296	17354296	-
NM_003000.3(SDHB):c.485A>G (p.Glu162Gly)	6390	SDHB	Uncertain significance	-1	RCV003021616;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354299	17354299	NC_000001.10:g.17354299T>C	-
NM_003000.3(SDHB):c.482A>T (p.Asp161Val)	6390	SDHB	Uncertain significance	1049317868	RCV000706391\|RCV002334388;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354302	17354302	NC_000001.10:g.17354302T>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.472AAG[2] (p.Lys160del)	6390	SDHB	Uncertain significance	1173714647	RCV000556470\|RCV001023034\|RCV003476238;	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	17354304	17354306	1:g.17354304_17354306del	ClinGen:CA521039145	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.480G>A (p.Lys160=)	6390	SDHB	Likely benign	1553177683	RCV000633985\|RCV002334075;	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	17354304	17354304	1:g.17354304C>T	ClinGen:CA416086043	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.479A>C (p.Lys160Thr)	6390	SDHB	Uncertain significance	2077999799	RCV001229816;	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	17354305	17354305	1:g.17354305T>G	-
NM_003000.3(SDHB):c.477G>C (p.Lys159Asn)	6390	SDHB	Uncertain significance	-1	RCV003008216;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354307	17354307	NC_000001.10:g.17354307C>G	-
NM_003000.3(SDHB):c.473del (p.Lys158fs)	6390	SDHB	Pathogenic	-1	RCV002807218;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354311	17354311	NC_000001.10:g.17354312del	-
NM_003000.3(SDHB):c.466del (p.Tyr156fs)	6390	SDHB	Pathogenic	2101521760	RCV001382459;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354318	17354318	17354317	-
NM_003000.3(SDHB):c.465T>C (p.Pro155=)	6390	SDHB	Likely benign	1553177685	RCV000565893\|RCV001480877;	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	17354319	17354319	1:g.17354319A>G	ClinGen:CA416086152	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.464C>T (p.Pro155Leu)	6390	SDHB	Uncertain significance	1553177686	RCV000633952;	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	17354320	17354320	1:g.17354320G>A	ClinGen:CA338272998	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.463C>T (p.Pro155Ser)	6390	SDHB	Uncertain significance	763008243	RCV000477025;	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	17354321	17354321	NC_000001.10:g.17354321G>A	ClinGen:CA089630	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.457A>G (p.Ile153Val)	6390	SDHB	Uncertain significance	1450956956	RCV000565320\|RCV001060686;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17354327	17354327	1:g.17354327T>C	ClinGen:CA338273114	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.457A>T (p.Ile153Phe)	6390	SDHB	Uncertain significance	1450956956	RCV000699660;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354327	17354327	1:g.17354327T>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.453A>G (p.Lys151=)	6390	SDHB	Likely benign	1570947967	RCV001463601;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354331	17354331	1:g.17354331T>C	-
NM_003000.3(SDHB):c.448T>C (p.Tyr150His)	6390	SDHB	Uncertain significance	2101521819	RCV001984083;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354336	17354336	17354336	-
NM_003000.3(SDHB):c.447G>T (p.Gln149His)	6390	SDHB	Uncertain significance	200353146	RCV001874938\|RCV002331385;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354337	17354337	17354337	-
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)	6390	SDHB	Pathogenic	2101521836	RCV001899634;	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	17354337	17354338	17354337	-
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)	6390	SDHB	Pathogenic	876658451	RCV000219011\|RCV000505327\|RCV001857761;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OM	1	17354339	17354339	1:g.17354339G>A	ClinGen:CA10577675	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.444A>T (p.Ala148=)	6390	SDHB	Likely benign	-1	RCV002806682;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354340	17354340		-
NM_003000.3(SDHB):c.442G>A (p.Ala148Thr)	6390	SDHB	Uncertain significance	2078000133	RCV001295161\|RCV002327633;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354342	17354342	17354342	-
NM_003000.3(SDHB):c.442G>T (p.Ala148Ser)	6390	SDHB	Uncertain significance	-1	RCV002333967\|RCV003094697;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17354342	17354342	17354342	-
NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter)	6390	SDHB	Pathogenic	1060503763	RCV000460882;	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	17354343	17354343	NC_000001.10:g.17354343A>C	ClinGen:CA16609941	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.440A>T (p.Tyr147Phe)	6390	SDHB	Uncertain significance	774568101	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	1:g.17354344T>A	-
NM_003000.3(SDHB):c.439T>C (p.Tyr147His)	6390	SDHB	Uncertain significance	-1	RCV003015867;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354345	17354345	NC_000001.10:g.17354345A>G	-
NM_003000.3(SDHB):c.438C>A (p.Phe146Leu)	6390	SDHB	Uncertain significance	1570948017	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	1:g.17354346G>T	-
NM_003000.3(SDHB):c.438C>G (p.Phe146Leu)	6390	SDHB	Uncertain significance	1570948017	RCV001213150;	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	17354346	17354346	1:g.17354346G>C	-
NM_003000.3(SDHB):c.427T>A (p.Leu143Met)	6390	SDHB	Uncertain significance	1570948034	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	1:g.17354357A>T	-
NM_003000.3(SDHB):c.425A>T (p.Asp142Val)	6390	SDHB	Uncertain significance	759709073	RCV000685060\|RCV002331317;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354359	17354359	1:g.17354359T>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.424-7A>C	6390	SDHB	Likely benign	1570948064	RCV001499796;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354367	17354367	1:g.17354367T>G	-
NM_003000.3(SDHB):c.424-7A>T	6390	SDHB	Likely benign	1570948064	RCV001394867;	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	17354367	17354367	17354367	-
NM_003000.3(SDHB):c.424-17_424-9del	6390	SDHB	Likely benign	2101521957	RCV001413380;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354369	17354377	17354368	-
NM_003000.3(SDHB):c.424-9T>G	6390	SDHB	Likely benign	-1	RCV003087475;	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	17354369	17354369	NC_000001.10:g.17354369A>C	-
NM_003000.3(SDHB):c.424-14_424-9del	6390	SDHB	Likely benign	-1	RCV002638788;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354369	17354374	NC_000001.10:g.17354373_17354378del	-
NM_003000.3(SDHB):c.424-10T>G	6390	SDHB	Likely benign	-1	RCV003033452;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354370	17354370	NC_000001.10:g.17354370A>C	-
NM_003000.3(SDHB):c.424-11C>G	6390	SDHB	Likely benign	199523383	RCV002157137;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354371	17354371	17354371	-
NM_003000.3(SDHB):c.424-37TTC[10]	6390	SDHB	Benign/Likely benign	34261028	RCV000030449\|RCV000248855\|RCV001811222\|RCV002054523\|RCV002256011\|RCV002496469;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontolog	1	17354373	17354374	1:g.17354373_17354374insGAAGAA	ClinGen:CA260527	CN169374 not specified;
NM_003000.3(SDHB):c.424-13C>T	6390	SDHB	Likely benign	-1	RCV002621287;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354373	17354373	NC_000001.10:g.17354373G>A	-
NM_003000.3(SDHB):c.424-13del	6390	SDHB	Likely benign	-1	RCV003008347;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354373	17354373	NC_000001.10:g.17354374del	-
NM_003000.3(SDHB):c.424-13C>G	6390	SDHB	Likely benign	-1	RCV002991426;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354373	17354373	NC_000001.10:g.17354373G>C	-
NM_003000.2(SDHB):c.424-16_424-14dup	6390	SDHB	Conflicting interpretations of pathogenicity	34261028	RCV000037721\|RCV000295494\|RCV000352632\|RCV002054677\|RCV002257376\|RCV003103724;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMI	1	17354374	17354376	1:g.17354373_17354374insGAA	ClinGen:CA134779	CN169374 not specified;
NM_003000.3(SDHB):c.424-37TTC[6]	6390	SDHB	Conflicting interpretations of pathogenicity	34261028	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\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMI	1	17354374	17354379	1:g.17354374_17354379del	ClinGen:CA637817	CN169374 not specified;
NM_003000.3(SDHB):c.424-37TTC[7]	6390	SDHB	Benign/Likely benign	34261028	RCV001579364\|RCV002068762\|RCV002268397;	N	MedGen:C3661900\|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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen	1	17354374	17354376	1:g.17354374_17354376del	-
NM_003000.3(SDHB):c.424-37TTC[5]	6390	SDHB	Likely benign	34261028	RCV002177729;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354374	17354382	17354373	-
NM_003000.3(SDHB):c.424-16T>C	6390	SDHB	Likely benign	-1	RCV002912837;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354376	17354376	NC_000001.10:g.17354376A>G	-
NM_003000.3(SDHB):c.424-19T>C	6390	SDHB	Likely benign	201836574	RCV002160119;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17354379	17354379	17354379	-
NM_003000.3(SDHB):c.423+20T>A	6390	SDHB	Conflicting interpretations of pathogenicity	190139590	RCV000183209\|RCV000204733\|RCV000514661\|RCV000755700\|RCV000986264\|RCV002257364;	N	MedGen:CN169374\|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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen	1	17355075	17355075	1:g.17355075A>T	ClinGen:CA015870	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.423+19C>G	6390	SDHB	Likely benign	-1	RCV002806480;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355076	17355076	NC_000001.10:g.17355076G>C	-
NM_003000.3(SDHB):c.423+18T>G	6390	SDHB	Likely benign	2101522874	RCV002213286;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355077	17355077	17355077	-
NM_003000.3(SDHB):c.423+17C>T	6390	SDHB	Likely benign	2101522881	RCV002090351;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355078	17355078	17355078	-
NM_003000.3(SDHB):c.423+13A>G	6390	SDHB	Likely benign	-1	RCV003017795;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355082	17355082	NC_000001.10:g.17355082T>C	-
NM_003000.3(SDHB):c.423+12C>T	6390	SDHB	Likely benign	2078004107	RCV002164327;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355083	17355083	17355083	-
NM_003000.3(SDHB):c.423+9C>T	6390	SDHB	Likely benign	1570948499	RCV001409572;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355086	17355086	1:g.17355086G>A	-
NM_003000.3(SDHB):c.423+8T>G	6390	SDHB	Likely benign	2101522899	RCV001487864;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355087	17355087	17355087	-
NM_003000.3(SDHB):c.423+7T>C	6390	SDHB	Likely benign	2101522903	RCV001452277;	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	17355088	17355088	17355088	-
NM_003000.3(SDHB):c.423+7T>A	6390	SDHB	Uncertain significance	-1	RCV002796842;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355088	17355088	NC_000001.10:g.17355088A>T	-
NM_003000.3(SDHB):c.423+1G>T	6390	SDHB	Pathogenic	398122805	RCV001786533;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	17355094	17355094	17355094	-
NM_003000.3(SDHB):c.423C>A (p.Pro141=)	6390	SDHB	Uncertain significance	-1	RCV003031955;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355095	17355095		-
NM_003000.3(SDHB):c.422C>G (p.Pro141Arg)	6390	SDHB	Uncertain significance	1553177734	RCV000633947;	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	17355096	17355096	1:g.17355096G>C	ClinGen:CA338273808	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.422C>T (p.Pro141Leu)	6390	SDHB	Uncertain significance	1553177734	RCV001340975;	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	17355096	17355096	17355096	-
NM_003000.3(SDHB):c.413A>G (p.Asp138Gly)	6390	SDHB	Pathogenic	1570948527	RCV000816787;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355105	17355105	1:g.17355105T>C	-
NM_003000.3(SDHB):c.412del (p.Asp138fs)	6390	SDHB	Pathogenic	2101522958	RCV001381306\|RCV002329400;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355106	17355106	17355105	-
NM_003000.3(SDHB):c.409A>G (p.Lys137Glu)	6390	SDHB	Uncertain significance	2078004315	RCV001217111;	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	17355109	17355109	1:g.17355109T>C	-
NM_003000.3(SDHB):c.408A>C (p.Ile136=)	6390	SDHB	Uncertain significance	-1	RCV002671363;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355110	17355110		-
NM_003000.3(SDHB):c.407T>G (p.Ile136Arg)	6390	SDHB	Uncertain significance	2078004335	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	17355111	-
NM_003000.3(SDHB):c.406A>G (p.Ile136Val)	6390	SDHB	Conflicting interpretations of pathogenicity	2078004347	RCV001217089\|RCV002322054\|RCV003153946;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355112	17355112	1:g.17355112T>C	-
NM_003000.3(SDHB):c.406A>T (p.Ile136Leu)	6390	SDHB	Uncertain significance	-1	RCV002791370;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355112	17355112	NC_000001.10:g.17355112T>A	-
NM_003000.3(SDHB):c.405G>A (p.Val135=)	6390	SDHB	Likely benign	2101522982	RCV002191385;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355113	17355113	17355113	-
NM_003000.3(SDHB):c.403G>A (p.Val135Met)	6390	SDHB	Conflicting interpretations of pathogenicity	201585157	RCV000034687\|RCV000163306\|RCV000230410\|RCV003387738\|RCV003390721\|RCV003473253;	N	MedGen:C3661900\|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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedG	1	17355115	17355115	1:g.17355115C>T	ClinGen:CA015827	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.401A>G (p.Tyr134Cys)	6390	SDHB	Uncertain significance	200893429	RCV001065903\|RCV002374972;	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	1:g.17355117T>C	-
NM_003000.3(SDHB):c.400T>C (p.Tyr134His)	6390	SDHB	Uncertain significance	771004483	RCV001021652\|RCV001036784\|RCV003413809;	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	1:g.17355118A>G	-
NM_003000.3(SDHB):c.397A>G (p.Met133Val)	6390	SDHB	Uncertain significance	1392546433	RCV000806674\|RCV002352385\|RCV002462169;	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	17355121	17355121	1:g.17355121T>C	-
NM_003000.3(SDHB):c.385C>G (p.Pro129Ala)	6390	SDHB	Uncertain significance	1553177740	RCV000530946;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355133	17355133	NC_000001.10:g.17355133G>C	ClinGen:CA338274293	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser)	6390	SDHB	Uncertain significance	1553177740	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	1:g.17355133G>A	-
NM_003000.3(SDHB):c.383A>G (p.Tyr128Cys)	6390	SDHB	Uncertain significance	772158627	RCV000633972\|RCV002360532;	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	17355135	17355135	1:g.17355135T>C	ClinGen:CA089601	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.383A>C (p.Tyr128Ser)	6390	SDHB	Uncertain significance	-1	RCV003018037\|RCV003377830;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355135	17355135	NC_000001.10:g.17355135T>G	-
NM_003000.3(SDHB):c.379A>G (p.Ile127Val)	6390	SDHB	Conflicting interpretations of pathogenicity	201372280	RCV001064015\|RCV003353144;	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	1:g.17355139T>C	-
NM_003000.3(SDHB):c.376A>G (p.Lys126Glu)	6390	SDHB	Uncertain significance	202095022	RCV000695945\|RCV001021088;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355142	17355142	1:g.17355142T>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.374C>G (p.Ser125Ter)	6390	SDHB	Pathogenic	786203506	RCV000456990;	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	17355144	17355144	NC_000001.10:g.17355144G>C	ClinGen:CA16609939	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.371T>C (p.Val124Ala)	6390	SDHB	Uncertain significance	1557741456	RCV000692699;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355147	17355147	NC_000001.10:g.17355147A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.370G>A (p.Val124Ile)	6390	SDHB	Uncertain significance	978525560	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	17355148	-
NM_003000.3(SDHB):c.368A>G (p.Lys123Arg)	6390	SDHB	Uncertain significance	1557741464	RCV001370672;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355150	17355150	17355150	-
NM_003000.3(SDHB):c.367A>G (p.Lys123Glu)	6390	SDHB	Uncertain significance	1570948588	RCV001020863\|RCV002549528;	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	17355151	17355151	1:g.17355151T>C	-
NM_003000.3(SDHB):c.365A>G (p.Asn122Ser)	6390	SDHB	Conflicting interpretations of pathogenicity	1557741472	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	1:g.17355153T>C	-
NM_003000.3(SDHB):c.363C>T (p.Leu121=)	6390	SDHB	Likely benign	-1	RCV002917879;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355155	17355155		-
NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)	6390	SDHB	Uncertain significance	775925040	RCV001020760\|RCV001071144\|RCV001759706\|RCV003473589;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17355156	17355156	1:g.17355156A>G	-
NM_003000.3(SDHB):c.361C>T (p.Leu121Phe)	6390	SDHB	Uncertain significance	1194401420	RCV000691221\|RCV002458231;	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	17355157	17355157	1:g.17355157G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.359A>G (p.Asn120Ser)	6390	SDHB	Uncertain significance	1553177746	RCV000633957;	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	17355159	17355159	1:g.17355159T>C	ClinGen:CA338274512	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.356C>A (p.Thr119Asn)	6390	SDHB	Uncertain significance	11541234	RCV000693366;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355162	17355162	NC_000001.10:g.17355162G>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.350T>C (p.Ile117Thr)	6390	SDHB	Uncertain significance	1553177755	RCV000633974\|RCV002458016;	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	17355168	17355168	1:g.17355168A>G	ClinGen:CA338274586	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.349A>G (p.Ile117Val)	6390	SDHB	Uncertain significance	-1	RCV002938848;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355169	17355169	NC_000001.10:g.17355169T>C	-
NM_003000.3(SDHB):c.347G>A (p.Arg116Lys)	6390	SDHB	Uncertain significance	-1	RCV003027734;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355171	17355171	NC_000001.10:g.17355171C>T	-
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)	6390	SDHB	Pathogenic	751000085	RCV000178185\|RCV000505340\|RCV000627752\|RCV001507023\|RCV002453635\|RCV003474933;	N	MedGen:C3661900\|MONDO:MONDO:0017366,MedGen:C1708353, 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,OM	1	17355175	17355175	1:g.17355175G>A	ClinGen:CA015763	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.342C>T (p.Thr114=)	6390	SDHB	Likely benign	528599830	RCV001483453;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355176	17355176	1:g.17355176G>A	-
NM_003000.3(SDHB):c.342C>A (p.Thr114=)	6390	SDHB	Likely benign	-1	RCV002596454;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355176	17355176		-
NM_003000.3(SDHB):c.341C>T (p.Thr114Ile)	6390	SDHB	Uncertain significance	-1	RCV003048381;	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	17355177	17355177	NC_000001.10:g.17355177G>A	-
NM_003000.3(SDHB):c.340A>T (p.Thr114Ser)	6390	SDHB	Uncertain significance	2078005007	RCV001217984;	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	17355178	17355178	1:g.17355178T>A	-
NM_003000.3(SDHB):c.339C>T (p.Cys113=)	6390	SDHB	Likely benign	754582722	RCV000456271\|RCV001020194;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355179	17355179	NC_000001.10:g.17355179G>A	ClinGen:CA089590	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)	6390	SDHB	Pathogenic	864321636	RCV000203531\|RCV002515512;	N	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:606764, Orphanet:44890; Human Phenotype Ontology:HP:0002666,MONDO:	1	17355180	17355180	NC_000001.10:g.17355180C>G	ClinGen:CA279931	C0031511 171300 Pheochromocytoma;
NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr)	6390	SDHB	Pathogenic	864321636	RCV001211133;	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	17355180	17355180	1:g.17355180C>T	-
NM_003000.3(SDHB):c.337T>G (p.Cys113Gly)	6390	SDHB	Uncertain significance	2078005043	RCV001224418;	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	17355181	17355181	1:g.17355181A>C	-
NM_003000.3(SDHB):c.336T>C (p.Ala112=)	6390	SDHB	Likely benign	2101523242	RCV001422202;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355182	17355182	17355182	-
NM_003000.3(SDHB):c.335C>G (p.Ala112Gly)	6390	SDHB	Uncertain significance	1553177762	RCV000633962;	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	17355183	17355183	1:g.17355183G>C	ClinGen:CA338274795	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.325_335del (p.Asn109fs)	6390	SDHB	Pathogenic	2101523248	RCV001972661;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355183	17355193	17355182	-
NM_003000.3(SDHB):c.331_332del (p.Leu111fs)	6390	SDHB	Pathogenic	1060503751	RCV000505308\|RCV000477482;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|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,MOND	1	17355186	17355187	NC_000001.10:g.17355186AG[1]	ClinGen:CA16609938	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.332T>C (p.Leu111Pro)	6390	SDHB	Conflicting interpretations of pathogenicity	1570948631	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	1:g.17355186A>G	-
NM_003000.3(SDHB):c.331C>T (p.Leu111=)	6390	SDHB	Likely benign	-1	RCV003034339;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355187	17355187		-
NM_003000.3(SDHB):c.328A>T (p.Thr110Ser)	6390	SDHB	Uncertain significance	1407350591	RCV001302229\|RCV002447295;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355190	17355190	17355190	-
NM_003000.3(SDHB):c.320G>A (p.Gly107Glu)	6390	SDHB	Uncertain significance	-1	RCV002914345;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355198	17355198	NC_000001.10:g.17355198C>T	-
NM_003000.3(SDHB):c.318T>C (p.Asn106=)	6390	SDHB	Likely benign	2101523320	RCV002202161;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355200	17355200	17355200	-
NM_003000.3(SDHB):c.315C>G (p.Ile105Met)	6390	SDHB	Uncertain significance	-1	RCV002578179\|RCV003164820;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355203	17355203	NC_000001.10:g.17355203G>C	-
NM_003000.3(SDHB):c.315C>T (p.Ile105=)	6390	SDHB	Likely benign	-1	RCV002851032;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355203	17355203		-
NM_003000.3(SDHB):c.313A>G (p.Ile105Val)	6390	SDHB	Uncertain significance	1356656612	RCV001360715\|RCV002322317;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355205	17355205	17355205	-
NM_003000.3(SDHB):c.312C>T (p.Asn104=)	6390	SDHB	Likely benign	876660346	RCV000222005\|RCV000938642;	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	17355206	17355206	1:g.17355206G>A	ClinGen:CA10577677	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)	6390	SDHB	Pathogenic	786201316	RCV000163361\|RCV000801474\|RCV001781508\|RCV003407605;	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	17355207	17355207	NC_000001.10:g.17355207delinsCC	ClinGen:CA188076	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.309G>A (p.Met103Ile)	6390	SDHB	Uncertain significance	1570948679	RCV000803380;	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	17355209	17355209	1:g.17355209C>T	-
NM_003000.3(SDHB):c.308T>C (p.Met103Thr)	6390	SDHB	Uncertain significance	1553177765	RCV000633951;	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	17355210	17355210	1:g.17355210A>G	ClinGen:CA338275056	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.306A>G (p.Ala102=)	6390	SDHB	Likely benign	1553177766	RCV001468815\|RCV002448650;	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	17355212	17355212	NC_000001.10:g.17355212T>C	ClinGen:CA416088073	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)	6390	SDHB	Conflicting interpretations of pathogenicity	777578399	RCV001018296\|RCV001310281\|RCV001766844\|RCV001860902;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0030974,MedGen:C5543176,OMIM:619224\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGe	1	17355214	17355214	1:g.17355214C>T	OMIM:185470.0024
NM_003000.3(SDHB):c.303T>C (p.Cys101=)	6390	SDHB	Likely benign	2101523383	RCV001495162;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355215	17355215	17355215	-
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)	6390	SDHB	Uncertain significance	121917755	RCV000013629\|RCV001266192\|RCV001851830;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:H	1	17355219	17355219	1:g.17355219G>A	ClinGen:CA015720,UniProtKB:P21912#VAR_037620,OMIM:185470.0011	C0031511 171300 Pheochromocytoma;
NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)	6390	SDHB	Uncertain significance	121917755	RCV000566270\|RCV000590918\|RCV000687053\|RCV001095843\|RCV001775900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OM	1	17355219	17355219	NC_000001.10:g.17355219G>C	ClinGen:CA338275124	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.287G>T (p.Gly96Val)	6390	SDHB	Uncertain significance	778952116	RCV001372333;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355231	17355231	17355231	-
NM_003000.3(SDHB):c.287-3C>G	6390	SDHB	Likely pathogenic	1553177772	RCV000505289\|RCV001215683\|RCV002438228;	N	MONDO:MONDO:0017366,MedGen:C1708353, 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:606764,Orphan	1	17355234	17355234	NC_000001.10:g.17355234G>C	ClinGen:CA645509071	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.287-4T>C	6390	SDHB	Benign/Likely benign	200419171	RCV000457902\|RCV000563461\|RCV000604153\|RCV001810969;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355235	17355235	NC_000001.10:g.17355235A>G	ClinGen:CA089577	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.287-7C>G	6390	SDHB	Likely benign	542180633	RCV001457416;	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	17355238	17355238	17355238	-
NM_003000.3(SDHB):c.287-8T>C	6390	SDHB	Likely benign	2101523482	RCV002194684;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355239	17355239	17355239	-
NM_003000.3(SDHB):c.287-9C>T	6390	SDHB	Likely benign	-1	RCV003058031;	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	17355240	17355240	NC_000001.10:g.17355240G>A	-
NM_003000.3(SDHB):c.287-11G>A	6390	SDHB	Likely benign	2101523489	RCV002182323;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355242	17355242	17355242	-
NM_003000.3(SDHB):c.287-13G>A	6390	SDHB	Likely benign	-1	RCV002948357;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355244	17355244	NC_000001.10:g.17355244C>T	-
NM_003000.3(SDHB):c.287-16T>C	6390	SDHB	Likely benign	2078005658	RCV002181799;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355247	17355247	17355247	-
NM_003000.3(SDHB):c.287-18A>G	6390	SDHB	Uncertain significance	-1	RCV002823753;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17355249	17355249	NC_000001.10:g.17355249T>C	-
NM_003000.3(SDHB):c.286+18G>T	6390	SDHB	Likely benign	1352485549	RCV002216397;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359537	17359537	17359537	-
NM_003000.3(SDHB):c.286+18G>C	6390	SDHB	Likely benign	1352485549	RCV002090798;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359537	17359537	17359537	-
NM_003000.3(SDHB):c.286+9T>G	6390	SDHB	Likely benign	-1	RCV003014455;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359546	17359546	NC_000001.10:g.17359546A>C	-
NM_003000.3(SDHB):c.286+8T>C	6390	SDHB	Likely benign	2101528825	RCV001503543;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359547	17359547	17359547	-
NM_003000.3(SDHB):c.286+7A>G	6390	SDHB	Likely benign	747131231	RCV002175011;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359548	17359548	17359548	-
NC_000001.11:g.(?_17033054)_(17033151_?)del	6390	SDHB	Pathogenic	-1	RCV000633991;	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	17359549	17359646		-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.286+3G>A	6390	SDHB	Uncertain significance	2078031816	RCV001233715;	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	17359552	17359552	1:g.17359552C>T	-
NM_003000.3(SDHB):c.286+2T>A	6390	SDHB	Pathogenic	587781270	RCV000128905\|RCV000475161\|RCV000481752\|RCV000505293\|RCV000660254\|RCV003474741;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17359553	17359553	1:g.17359553A>T	ClinGen:CA015691	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)	6390	SDHB	Pathogenic/Likely pathogenic	587782243	RCV000130946\|RCV000459169\|RCV000505332\|RCV000489952\|RCV003474773;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17359555	17359555	1:g.17359555C>T	ClinGen:CA015701	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.280A>G (p.Arg94Gly)	6390	SDHB	Uncertain significance	2078031878	RCV001347165\|RCV002438806;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359561	17359561	17359561	-
NM_003000.3(SDHB):c.279C>T (p.Cys93=)	6390	SDHB	Conflicting interpretations of pathogenicity	2101528858	RCV001489636\|RCV002439175;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359562	17359562	17359562	-
NM_003000.3(SDHB):c.272G>A (p.Arg91Lys)	6390	SDHB	Uncertain significance	2078031940	RCV001312656\|RCV002437069;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359569	17359569	17359569	-
NM_003000.3(SDHB):c.271A>T (p.Arg91Ter)	6390	SDHB	Pathogenic	878854575	RCV000230068\|RCV000505337;	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	17359570	17359570	1:g.17359570T>A	ClinGen:CA10581748	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)	6390	SDHB	Conflicting interpretations of pathogenicity	570278423	RCV001984232\|RCV003475273;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359572	17359572	17359572	-
NM_003000.3(SDHB):c.268C>G (p.Arg90Gly)	6390	SDHB	Uncertain significance	74315366	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	1:g.17359573G>C	ClinGen:CA015636	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.267C>T (p.Phe89=)	6390	SDHB	Likely benign	1553178042	RCV001462201\|RCV002434210;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359574	17359574	1:g.17359574G>A	-
NM_003000.3(SDHB):c.264C>G (p.Thr88=)	6390	SDHB	Likely benign	41310416	RCV000215929\|RCV001505459;	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	17359577	17359577	1:g.17359577G>C	ClinGen:CA089557	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.264C>T (p.Thr88=)	6390	SDHB	Likely benign	41310416	RCV002144047\|RCV003382856;	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	17359577	17359577	17359577	-
NM_003000.3(SDHB):c.263C>G (p.Thr88Ser)	6390	SDHB	Uncertain significance	915794675	RCV000633958\|RCV002431878;	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	17359578	17359578	1:g.17359578G>C	ClinGen:CA18669726	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.263C>T (p.Thr88Ile)	6390	SDHB	Uncertain significance	915794675	RCV001315331;	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	17359578	17359578	17359578	-
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe)	6390	SDHB	Uncertain significance	2101528919	RCV001920751;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359580	17359581	17359580	-
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)	6390	SDHB	Pathogenic/Likely pathogenic	727504457	RCV000155443\|RCV000697957\|RCV001016096\|RCV003315943;	N	MONDO:MONDO:0017366,MedGen:C1708353, 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:171300,Orphan	1	17359581	17359581	1:g.17359581A>G	ClinGen:CA015626,UniProtKB:P21912#VAR_018517	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.259T>G (p.Leu87Val)	6390	SDHB	Conflicting interpretations of pathogenicity	-1	RCV002870912\|RCV003367893;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359582	17359582	NC_000001.10:g.17359582A>C	-
NM_003000.3(SDHB):c.256A>G (p.Thr86Ala)	6390	SDHB	Uncertain significance	1570951385	RCV000805584\|RCV002453798;	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	17359585	17359585	1:g.17359585T>C	-
NM_003000.3(SDHB):c.256A>T (p.Thr86Ser)	6390	SDHB	Uncertain significance	1570951385	RCV001952107\|RCV003475169;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359585	17359585	17359585	-
NM_003000.3(SDHB):c.252C>A (p.Asp84Glu)	6390	SDHB	Uncertain significance	1427902008	RCV001346285\|RCV003294361;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359589	17359589	17359589	-
NM_003000.3(SDHB):c.252C>T (p.Asp84=)	6390	SDHB	Likely benign	1427902008	RCV001424752\|RCV002432177;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359589	17359589	17359589	-
NM_003000.3(SDHB):c.251A>C (p.Asp84Ala)	6390	SDHB	Likely pathogenic	864321637	RCV000203547;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	17359590	17359590	1:g.17359590T>G	ClinGen:CA279941	C0031511 171300 Pheochromocytoma;
NM_003000.3(SDHB):c.250G>A (p.Asp84Asn)	6390	SDHB	Uncertain significance	2078032193	RCV001227783;	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	17359591	17359591	1:g.17359591C>T	-
NM_003000.3(SDHB):c.249del (p.Asp84fs)	6390	SDHB	Pathogenic	2101528951	RCV001972503;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359592	17359592	17359591	-
NM_003000.3(SDHB):c.248T>C (p.Val83Ala)	6390	SDHB	Uncertain significance	763547482	RCV000226167;	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	17359593	17359593	1:g.17359593A>G	ClinGen:CA10581749	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.248T>G (p.Val83Gly)	6390	SDHB	Uncertain significance	763547482	RCV001038662;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359593	17359593	1:g.17359593A>C	-
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)	6390	SDHB	Pathogenic	2101528972	RCV001946720;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359594	17359595	17359594	-
NM_003000.3(SDHB):c.245A>C (p.Glu82Ala)	6390	SDHB	Uncertain significance	-1	RCV002671846;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359596	17359596	NC_000001.10:g.17359596T>G	-
NM_003000.3(SDHB):c.244G>A (p.Glu82Lys)	6390	SDHB	Uncertain significance	-1	RCV002838005;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359597	17359597	NC_000001.10:g.17359597C>T	-
NM_003000.3(SDHB):c.243T>C (p.Asn81=)	6390	SDHB	Likely benign	2101528976	RCV001452676;	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	17359598	17359598	17359598	-
NM_003000.3(SDHB):c.239A>G (p.Lys80Arg)	6390	SDHB	Uncertain significance	-1	RCV003039534;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359602	17359602	NC_000001.10:g.17359602T>C	-
NM_003000.3(SDHB):c.237T>G (p.Ile79Met)	6390	SDHB	Uncertain significance	2078032308	RCV001223003;	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	17359604	17359604	1:g.17359604A>C	-
NM_003000.3(SDHB):c.234G>A (p.Lys78=)	6390	SDHB	Likely benign	776971836	RCV001458553\|RCV003320838;	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	17359607	17359607	17359607	-
NM_003000.3(SDHB):c.232A>G (p.Lys78Glu)	6390	SDHB	Uncertain significance	2101529019	RCV001919570;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359609	17359609	17359609	-
NM_003000.3(SDHB):c.231C>G (p.Ile77Met)	6390	SDHB	Uncertain significance	1570951427	RCV000793209;	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	17359610	17359610	1:g.17359610G>C	-
NM_003000.3(SDHB):c.227T>G (p.Leu76Ter)	6390	SDHB	Likely pathogenic	864321638	RCV000203511;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	17359614	17359614	1:g.17359614A>C	ClinGen:CA279918	C0031511 171300 Pheochromocytoma;
NM_003000.3(SDHB):c.225T>C (p.Ala75=)	6390	SDHB	Likely benign	201762207	RCV000462416\|RCV001014966\|RCV002268115;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359616	17359616	NC_000001.10:g.17359616A>G	ClinGen:CA089546	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)	6390	SDHB	Pathogenic/Likely pathogenic	876658713	RCV000222241\|RCV000475368\|RCV001551663\|RCV003475010;	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	17359620	17359620	1:g.17359620T>G	ClinGen:CA10577678	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)	6390	SDHB	Likely pathogenic	-1	RCV002837496;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359620	17359620	NC_000001.10:g.17359620T>C	-
NM_003000.3(SDHB):c.220G>A (p.Asp74Asn)	6390	SDHB	Uncertain significance	1570951468	RCV000822867;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359621	17359621	1:g.17359621C>T	-
NM_003000.3(SDHB):c.219G>C (p.Leu73Phe)	6390	SDHB	Uncertain significance	-1	RCV002999767;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359622	17359622	NC_000001.10:g.17359622C>G	-
NM_003000.3(SDHB):c.217T>C (p.Leu73=)	6390	SDHB	Likely benign	763734164	RCV001423895\|RCV002432175;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359624	17359624	17359624	-
NM_003000.3(SDHB):c.216A>G (p.Val72=)	6390	SDHB	Likely benign	1570951479	RCV001409181;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359625	17359625	1:g.17359625T>C	-
NM_003000.3(SDHB):c.213G>A (p.Met71Ile)	6390	SDHB	Uncertain significance	-1	RCV002851743;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359628	17359628	NC_000001.10:g.17359628C>T	-
NM_003000.3(SDHB):c.211A>G (p.Met71Val)	6390	SDHB	Uncertain significance	1557742895	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; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17359630	17359630	1:g.17359630T>C	-
NM_003000.3(SDHB):c.208C>A (p.Pro70Thr)	6390	SDHB	Uncertain significance	200890320	RCV000633955\|RCV003162828;	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	17359633	17359633	1:g.17359633G>T	ClinGen:CA089542	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.208C>T (p.Pro70Ser)	6390	SDHB	Uncertain significance	200890320	RCV001925341;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359633	17359633	17359633	-
NM_003000.3(SDHB):c.207C>T (p.Gly69=)	6390	SDHB	Likely benign	2101529103	RCV002147741;	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	17359634	17359634	17359634	-
NM_003000.3(SDHB):c.201A>G (p.Lys67=)	6390	SDHB	Conflicting interpretations of pathogenicity	1436421650	RCV001319389\|RCV002418964;	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	17359640	17359640	17359640	-
NM_003000.3(SDHB):c.201-2A>C	6390	SDHB	Pathogenic	878854574	RCV000229229;	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	17359642	17359642	1:g.17359642T>G	ClinGen:CA10581750	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.201-6T>C	6390	SDHB	Likely benign	2101529151	RCV001394637;	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	17359646	17359646	17359646	-
NM_003000.3(SDHB):c.201-10T>A	6390	SDHB	Uncertain significance	761461907	RCV000822205;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359650	17359650	1:g.17359650A>T	-
NM_003000.3(SDHB):c.201-10T>C	6390	SDHB	Likely benign	761461907	RCV002193655;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359650	17359650	17359650	-
NM_003000.3(SDHB):c.201-17A>G	6390	SDHB	Likely benign	2101529168	RCV002017663;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17359657	17359657	17359657	-
NM_003000.3(SDHB):c.201-20T>C	6390	SDHB	Likely benign	-1	RCV003052629;	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	17359660	17359660	NC_000001.10:g.17359660A>G	-
NM_003000.3(SDHB):c.200+18A>T	6390	SDHB	Likely benign	-1	RCV002871650;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371238	17371238	NC_000001.10:g.17371238T>A	-
NM_003000.3(SDHB):c.200+11C>T	6390	SDHB	Likely benign	-1	RCV002871651;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371245	17371245	NC_000001.10:g.17371245G>A	-
NM_003000.3(SDHB):c.200+3_200+6del	6390	SDHB	Uncertain significance	2101541290	RCV002039521;	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	17371250	17371253	17371249	-
NM_003000.3(SDHB):c.200+5G>C	6390	SDHB	Conflicting interpretations of pathogenicity	1553178726	RCV000508322\|RCV000536052\|RCV002420285;	N	MedGen:CN169374\|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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen	1	17371251	17371251	1:g.17371251C>G	ClinGen:CA645509072	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.200+5G>T	6390	SDHB	Uncertain significance	1553178726	RCV002016515\|RCV002423248;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371251	17371251	17371251	-
NM_003000.3(SDHB):c.200+4A>G	6390	SDHB	Uncertain significance	774908929	RCV000798391;	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	17371252	17371252	1:g.17371252T>C	-
NM_003000.3(SDHB):c.200+1G>A	6390	SDHB	Pathogenic	2101541309	RCV001703290\|RCV001868396\|RCV003451853;	N	MedGen:C3661900\|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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen	1	17371255	17371255	17371255	-
NM_003000.3(SDHB):c.194T>C (p.Leu65Pro)	6390	SDHB	Pathogenic	876659329	RCV000458678;	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	17371262	17371262	NC_000001.10:g.17371262A>G	ClinGen:CA16609949	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)	6390	SDHB	Uncertain significance	786202185	RCV000164884\|RCV000560019\|RCV002485021;	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	1:g.17371263G>A	ClinGen:CA015581	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.193C>G (p.Leu65Val)	6390	SDHB	Uncertain significance	786202185	RCV001758898\|RCV001868698;	N	MedGen:C3661900\|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	17371263	17371263	17371263	-
NM_003000.3(SDHB):c.192C>A (p.Asp64Glu)	6390	SDHB	Uncertain significance	1570957920	RCV000798843;	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	17371264	17371264	1:g.17371264G>T	-
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)	6390	SDHB	Uncertain significance	200131173	RCV001294086\|RCV001871749;	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:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:	1	17371265	17371265	17371265	-
NM_003000.3(SDHB):c.190del (p.Asp64fs)	6390	SDHB	Pathogenic	1553178729	RCV000557065;	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	17371266	17371266	1:g.17371266_17371266del	ClinGen:CA658656890	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.188T>A (p.Val63Asp)	6390	SDHB	Uncertain significance	-1	RCV002299045;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371268	17371268	17371268	-
NM_003000.3(SDHB):c.187G>A (p.Val63Ile)	6390	SDHB	Uncertain significance	2078099260	RCV001222291;	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	17371269	17371269	1:g.17371269C>T	-
NM_003000.3(SDHB):c.186A>G (p.Glu62=)	6390	SDHB	Likely benign	876658473	RCV000220534\|RCV002518260;	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	17371270	17371270	1:g.17371270T>C	ClinGen:CA10577681	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.186A>T (p.Glu62Asp)	6390	SDHB	Uncertain significance	-1	RCV002300120;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371270	17371270	17371270	-
NM_003000.3(SDHB):c.184G>A (p.Glu62Lys)	6390	SDHB	Uncertain significance	1231783823	RCV001872948\|RCV002406972;	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	17371272	17371272	17371272	-
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)	6390	SDHB	Pathogenic	760169139	RCV000505331\|RCV001389812\|RCV002289690\|RCV002413384\|RCV003320666;	N	MONDO:MONDO:0017366,MedGen:C1708353, 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:606764,Orphan	1	17371273	17371273	NC_000001.10:g.17371273A>C	ClinGen:CA338227764	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)	6390	SDHB	Pathogenic	760169139	RCV001886266;	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	17371273	17371273	17371273	-
NM_003000.3(SDHB):c.182A>G (p.Tyr61Cys)	6390	SDHB	Uncertain significance	768171765	RCV001215755;	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	17371274	17371274	1:g.17371274T>C	-
NM_003000.3(SDHB):c.182A>C (p.Tyr61Ser)	6390	SDHB	Uncertain significance	-1	RCV002614348;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371274	17371274	NC_000001.10:g.17371274T>G	-
NM_003000.3(SDHB):c.180T>A (p.Thr60=)	6390	SDHB	Likely benign	2101541350	RCV001499893;	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	17371276	17371276	17371276	-
NM_003000.3(SDHB):c.179C>T (p.Thr60Ile)	6390	SDHB	Uncertain significance	1210793630	RCV000808264\|RCV002406809;	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	17371277	17371277	1:g.17371277G>A	-
NM_003000.3(SDHB):c.177G>C (p.Gln59His)	6390	SDHB	Uncertain significance	1277374324	RCV000633977\|RCV001013127\|RCV002225700;	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	17371279	17371279	1:g.17371279C>G	ClinGen:CA338227782	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.172A>G (p.Met58Val)	6390	SDHB	Uncertain significance	1201188410	RCV000535807\|RCV000568676\|RCV001567081\|RCV003476237;	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	17371284	17371284	1:g.17371284T>C	ClinGen:CA338227821	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.171T>C (p.His57=)	6390	SDHB	Likely benign	1280868219	RCV000633988\|RCV002404760;	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	17371285	17371285	1:g.17371285A>G	ClinGen:CA416046767	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.164A>G (p.Lys55Arg)	6390	SDHB	Uncertain significance	764843485	RCV000707718\|RCV002397494;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371292	17371292	1:g.17371292T>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.162C>T (p.Asp54=)	6390	SDHB	Likely benign	2101541392	RCV001437184\|RCV002405025;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371294	17371294	17371294	-
NM_003000.3(SDHB):c.160G>A (p.Asp54Asn)	6390	SDHB	Uncertain significance	1570957997	RCV001012407\|RCV001860707;	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	17371296	17371296	1:g.17371296C>T	-
NM_003000.3(SDHB):c.155C>A (p.Ala52Asp)	6390	SDHB	Uncertain significance	878854573	RCV000234165;	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	17371301	17371301	1:g.17371301G>T	ClinGen:CA10581751	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.148_151dup (p.Lys51fs)	6390	SDHB	Pathogenic	1570958022	RCV000795396;	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	17371304	17371305	1:g.17371304_17371305insTGTC	-
NM_003000.3(SDHB):c.152A>C (p.Lys51Thr)	6390	SDHB	Uncertain significance	2101541430	RCV001945934;	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	17371304	17371304	17371304	-
NM_003000.3(SDHB):c.150C>G (p.Asp50Glu)	6390	SDHB	Uncertain significance	1570958024	RCV001041328;	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	17371306	17371306	1:g.17371306G>C	-
NM_003000.3(SDHB):c.148G>C (p.Asp50His)	6390	SDHB	Uncertain significance	1060503765	RCV000468197;	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	17371308	17371308	NC_000001.10:g.17371308C>G	ClinGen:CA16609947	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.148G>A (p.Asp50Asn)	6390	SDHB	Uncertain significance	1060503765	RCV001229478\|RCV001819929;	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	17371308	17371308	1:g.17371308C>T	-
NM_003000.3(SDHB):c.147A>G (p.Pro49=)	6390	SDHB	Likely benign	2101541448	RCV001458027;	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	17371309	17371309	17371309	-
NM_003000.3(SDHB):c.146C>T (p.Pro49Leu)	6390	SDHB	Uncertain significance	2078100131	RCV001234532;	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	17371310	17371310	1:g.17371310G>A	-
NM_003000.3(SDHB):c.144C>T (p.Asp48=)	6390	SDHB	Likely benign	1553178737	RCV000633986\|RCV002388025;	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	17371312	17371312	1:g.17371312G>A	ClinGen:CA416046901	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)	6390	SDHB	Pathogenic/Likely pathogenic	202101384	RCV000032784\|RCV000470589\|RCV001011583\|RCV001249469\|RCV001578167\|RCV003315403\|RCV003473248;	N	MONDO:MONDO:0030974,MedGen:C5543176,OMIM:619224\|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:606764, Orphanet:	1	17371313	17371313	1:g.17371313T>A	ClinGen:CA015528,OMIM:185470.0020	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)	6390	SDHB	Likely pathogenic	864321639	RCV000203529;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	17371317	17371325	1:g.17371317_17371325del	ClinGen:CA279930	C0031511 171300 Pheochromocytoma;
NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)	6390	SDHB	Pathogenic	-1	RCV003003327;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371317	17371318	NC_000001.10:g.17371318_17371322dup	-
NM_003000.3(SDHB):c.138A>T (p.Arg46=)	6390	SDHB	Likely benign	1392672185	RCV001422767;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371318	17371318	17371318	-
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)	6390	SDHB	Pathogenic/Likely pathogenic	772551056	RCV000473045\|RCV000571526\|RCV003449160;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371319	17371319	NC_000001.10:g.17371319C>A	ClinGen:CA16609944	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)	6390	SDHB	Pathogenic	74315370	RCV000216404\|RCV000800486\|RCV003335029;	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	17371320	17371320	1:g.17371320G>C	ClinGen:CA015497,UniProtKB:P21912#VAR_035064,OMIM:185470.0008	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	6390	SDHB	Pathogenic	74315370	RCV000132150\|RCV000183224\|RCV000228450\|RCV000505277\|RCV000660253\|RCV003474784;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedG	1	17371320	17371320	1:g.17371320G>A	ClinGen:CA015507	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.136C>A (p.Arg46=)	6390	SDHB	Uncertain significance	74315370	RCV001206403;	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	17371320	17371320	1:g.17371320G>T	-
NM_003000.3(SDHB):c.134A>G (p.Tyr45Cys)	6390	SDHB	Uncertain significance	-1	RCV002695264;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371322	17371322	NC_000001.10:g.17371322T>C	-
NM_003000.3(SDHB):c.127G>T (p.Ala43Ser)	6390	SDHB	Uncertain significance	2078100395	RCV001213509;	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	17371329	17371329	1:g.17371329C>A	-
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)	6390	SDHB	Likely pathogenic	-1	RCV002376483\|RCV003094846;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17371329	17371329	17371329	-
NM_003000.3(SDHB):c.127G>A (p.Ala43Thr)	6390	SDHB	Uncertain significance	-1	RCV002872245;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371329	17371329	NC_000001.10:g.17371329C>T	-
NM_003000.3(SDHB):c.126del (p.Phe42fs)	6390	SDHB	Pathogenic	878854572	RCV000234616;	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	17371330	17371330	1:g.17371330_17371330del	ClinGen:CA10581752	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.125T>C (p.Phe42Ser)	6390	SDHB	Uncertain significance	-1	RCV002430319\|RCV003103490;	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	17371331	17371331	17371331	-
NM_003000.3(SDHB):c.124T>C (p.Phe42Leu)	6390	SDHB	Uncertain significance	-1	RCV003043965;	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	17371332	17371332	NC_000001.10:g.17371332A>G	-
NM_003000.3(SDHB):c.123A>G (p.Lys41=)	6390	SDHB	Likely benign	137877851	RCV001499278\|RCV003298893;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371333	17371333	17371333	-
NM_003000.3(SDHB):c.115A>G (p.Ile39Val)	6390	SDHB	Uncertain significance	-1	RCV002985412\|RCV002985413;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371341	17371341	NC_000001.10:g.17371341T>C	-
NM_003000.3(SDHB):c.112del (p.Arg38fs)	6390	SDHB	Pathogenic	398123690	RCV000633966;	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	17371344	17371344	1:g.17371344_17371344del	ClinGen:CA658795409	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.109C>T (p.Pro37Ser)	6390	SDHB	Uncertain significance	761180960	RCV001341003;	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	17371347	-
NM_003000.3(SDHB):c.106G>T (p.Ala36Ser)	6390	SDHB	Uncertain significance	1204932232	RCV000633956;	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	17371350	17371350	1:g.17371350C>A	ClinGen:CA338228304	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.98C>T (p.Ala33Val)	6390	SDHB	Uncertain significance	-1	RCV002846381;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371358	17371358	NC_000001.10:g.17371358G>A	-
NM_003000.3(SDHB):c.97G>A (p.Ala33Thr)	6390	SDHB	Conflicting interpretations of pathogenicity	777898500	RCV001315755\|RCV002384398;	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	17371359	17371359	17371359	-
NM_003000.3(SDHB):c.96T>C (p.Ala32=)	6390	SDHB	Likely benign	-1	RCV002605334;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371360	17371360		-
NM_003000.3(SDHB):c.95C>T (p.Ala32Val)	6390	SDHB	Uncertain significance	1570958135	RCV000822484;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371361	17371361	1:g.17371361G>A	-
NM_003000.3(SDHB):c.94G>A (p.Ala32Thr)	6390	SDHB	Uncertain significance	1570958136	RCV001019432\|RCV002549504;	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	17371362	17371362	1:g.17371362C>T	-
NM_003000.3(SDHB):c.93A>T (p.Thr31=)	6390	SDHB	Likely benign	2101541592	RCV001394532\|RCV002377587;	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	17371363	17371363	17371363	-
NM_003000.3(SDHB):c.92C>G (p.Thr31Arg)	6390	SDHB	Uncertain significance	-1	RCV002295034;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371364	17371364	17371364	-
NM_003000.3(SDHB):c.91A>G (p.Thr31Ala)	6390	SDHB	Uncertain significance	-1	RCV002304106;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371365	17371365	17371365	-
NM_003000.3(SDHB):c.90G>A (p.Gln30=)	6390	SDHB	Likely benign	-1	RCV002830086;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371366	17371366		-
NM_003000.3(SDHB):c.88del (p.Gln30fs)	6390	SDHB	Pathogenic	747198089	RCV000166126\|RCV000505352\|RCV001058703;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OM	1	17371368	17371368	1:g.17371368_17371368del	ClinGen:CA016194	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.87C>G (p.Ala29=)	6390	SDHB	Likely benign	2078100833	RCV002216103;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371369	17371369	17371369	-
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)	6390	SDHB	Uncertain significance	373976827	RCV000219487\|RCV000505281\|RCV000560433;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OM	1	17371376	17371376	1:g.17371376C>T	ClinGen:CA089772	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)	6390	SDHB	Pathogenic	74315369	RCV000013623\|RCV000129929\|RCV000471400\|RCV000505368\|RCV000657585\|RCV003473085;	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; MONDO:MONDO:0007273,MedGen	1	17371377	17371377	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	74315369	RCV000148870\|RCV000408969\|RCV000455540\|RCV000477264\|RCV000492780\|RCV001527323\|RCV003474796;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072\|MedGen:CN169374\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenot	1	17371377	17371377	1:g.17371377G>C	ClinGen:CA016179	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.77C>T (p.Ser26Phe)	6390	SDHB	Uncertain significance	-1	RCV002761526;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371379	17371379	NC_000001.10:g.17371379G>A	-
NM_003000.3(SDHB):c.75del (p.Ser26fs)	6390	SDHB	Pathogenic	2101541632	RCV001951091;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371381	17371381	17371380	-
NM_003000.3(SDHB):c.73-1G>T	6390	SDHB	Likely pathogenic	1131691055	RCV000695754\|RCV001026274;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371384	17371384	1:g.17371384C>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.73-2A>T	6390	SDHB	Likely pathogenic	1474282888	RCV002016177;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371385	17371385	17371385	-
NM_003000.3(SDHB):c.73-5T>G	6390	SDHB	Uncertain significance	747649519	RCV001217069;	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	17371388	17371388	1:g.17371388A>C	-
NM_003000.3(SDHB):c.73-6T>A	6390	SDHB	Conflicting interpretations of pathogenicity	1252798981	RCV000803242\|RCV003472372;	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	17371389	17371389	1:g.17371389A>T	-
NM_003000.3(SDHB):c.73-7A>C	6390	SDHB	Likely benign	770733541	RCV001062511;	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	17371390	17371390	1:g.17371390T>G	-
NM_003000.3(SDHB):c.73-14T>A	6390	SDHB	Likely benign	-1	RCV002825672;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371397	17371397	NC_000001.10:g.17371397A>T	-
NM_003000.3(SDHB):c.73-17A>C	6390	SDHB	Likely benign	2101541691	RCV002184265;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371400	17371400	17371400	-
NM_003000.3(SDHB):c.73-17del	6390	SDHB	Likely benign	-1	RCV002735616;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371400	17371400	NC_000001.10:g.17371401del	-
NM_003000.3(SDHB):c.73-20T>G	6390	SDHB	Likely benign	-1	RCV002792008;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17371403	17371403	NC_000001.10:g.17371403A>C	-
NM_003000.3(SDHB):c.72+17C>G	6390	SDHB	Likely benign	1031878905	RCV002087158;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380426	17380426	17380426	-
NM_003000.3(SDHB):c.72+13G>T	6390	SDHB	Likely benign	-1	RCV002595414;	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	17380430	17380430	NC_000001.10:g.17380430C>A	-
NM_003000.3(SDHB):c.72+10G>A	6390	SDHB	Likely benign	2101551608	RCV001426105;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380433	17380433	17380433	-
NM_003000.3(SDHB):c.72+10G>C	6390	SDHB	Likely benign	2101551608	RCV001491216;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380433	17380433	17380433	-
NM_003000.3(SDHB):c.72+8C>G	6390	SDHB	Likely benign	1570963404	RCV001467641;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380435	17380435	1:g.17380435G>C	-
NM_003000.3(SDHB):c.72+7C>A	6390	SDHB	Likely benign	1553179311	RCV000554334;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380436	17380436	1:g.17380436G>T	ClinGen:CA658656881	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.72+7C>T	6390	SDHB	Likely benign	1553179311	RCV001456602;	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	17380436	17380436	17380436	-
NC_000001.10:g.(?_17380437)_(17380520_?)del	6390	SDHB	Pathogenic	-1	RCV000544511;	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	17380437	17380520		-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.72+5G>A	6390	SDHB	Uncertain significance	878854581	RCV000226011;	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	17380438	17380438	1:g.17380438C>T	ClinGen:CA10581753	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.72+1G>T	6390	SDHB	Pathogenic/Likely pathogenic	587782703	RCV000013630\|RCV000132151\|RCV000153923\|RCV000232241\|RCV000505343\|RCV001001437\|RCV003148657\|RCV003474785;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phen	1	17380442	17380442	1:g.17380442C>A	ClinGen:CA016145,OMIM:185470.0012	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.71dup (p.Ala25fs)	6390	SDHB	Pathogenic/Likely pathogenic	1131691057	RCV000492122\|RCV000722044\|RCV002523989\|RCV003449384;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN239418\|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; Human Phen	1	17380443	17380444	NC_000001.10:g.17380444dup	ClinGen:CA645369145	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.72G>A (p.Gln24=)	6390	SDHB	Uncertain significance	1553179312	RCV000633964;	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	17380443	17380443	1:g.17380443C>T	ClinGen:CA416048651	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)	6390	SDHB	Uncertain significance	878854580	RCV001344511\|RCV002377462;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380444	17380444	17380444	-
NM_003000.3(SDHB):c.71A>T (p.Gln24Leu)	6390	SDHB	Uncertain significance	-1	RCV002301421\|RCV003308107;	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	17380444	17380444	17380444	-
NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)	6390	SDHB	Pathogenic	1570963430	RCV000823074;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380445	17380445	1:g.17380445G>A	-
NM_003000.3(SDHB):c.69G>C (p.Leu23=)	6390	SDHB	Likely benign	-1	RCV003063923;	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	17380446	17380446		-
NM_003000.3(SDHB):c.68T>C (p.Leu23Pro)	6390	SDHB	Uncertain significance	-1	RCV002701095;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380447	17380447	NC_000001.10:g.17380447A>G	-
NM_003000.3(SDHB):c.66C>T (p.Cys22=)	6390	SDHB	Likely benign	772853861	RCV000562652\|RCV000870399;	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	17380449	17380449	NC_000001.10:g.17380449G>A	ClinGen:CA089706	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.63dup (p.Cys22fs)	6390	SDHB	Pathogenic	1570963451	RCV000815216;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380451	17380452	1:g.17380451_17380452insG	-
NM_003000.3(SDHB):c.63C>G (p.Ala21=)	6390	SDHB	Likely benign	1557749647	RCV001473271;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380452	17380452	1:g.17380452G>C	-
NM_003000.3(SDHB):c.62C>T (p.Ala21Val)	6390	SDHB	Uncertain significance	2078163173	RCV001929669\|RCV003225206\|RCV003375458;	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	17380453	17380453	17380453	-
NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)	6390	SDHB	Uncertain significance	774266782	RCV001321600;	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	17380454	17380454	17380454	-
NM_003000.3(SDHB):c.61G>T (p.Ala21Ser)	6390	SDHB	Uncertain significance	-1	RCV003019444;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380454	17380454	NC_000001.10:g.17380454C>A	-
NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)	6390	SDHB	Uncertain significance	1557749649	RCV001371998\|RCV002357269;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380457	17380457	17380457	-
NM_003000.3(SDHB):c.58G>A (p.Gly20Arg)	6390	SDHB	Uncertain significance	-1	RCV002681262;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380457	17380457	NC_000001.10:g.17380457C>T	-
NM_003000.3(SDHB):c.57C>T (p.Gly19=)	6390	SDHB	Likely benign	1326601709	RCV000927109\|RCV002354779;	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	17380458	17380458	1:g.17380458G>A	-
NM_003000.3(SDHB):c.54T>G (p.Leu18=)	6390	SDHB	Likely benign	759446168	RCV001414269\|RCV002350801;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380461	17380461	17380461	-
NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)	6390	SDHB	Uncertain significance	2101551686	RCV001370070;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380463	17380463	17380463	-
NM_003000.3(SDHB):c.51C>T (p.Thr17=)	6390	SDHB	Likely benign	550555402	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	17380464	-
NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)	6390	SDHB	Uncertain significance	138979875	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; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17380465	17380465	1:g.17380465G>T	ClinGen:CA015929	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.50C>T (p.Thr17Ile)	6390	SDHB	Uncertain significance	138979875	RCV000532549\|RCV001023538\|RCV001824328\|RCV003476239;	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	17380465	17380465	1:g.17380465G>A	ClinGen:CA089635	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.50C>G (p.Thr17Ser)	6390	SDHB	Uncertain significance	-1	RCV003054582;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380465	17380465	NC_000001.10:g.17380465G>C	-
NM_003000.3(SDHB):c.48A>C (p.Thr16=)	6390	SDHB	Likely benign	1570963474	RCV000876749\|RCV001551964\|RCV002336856;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380467	17380467	1:g.17380467T>G	-
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)	6390	SDHB	Uncertain significance	775350144	RCV000304197\|RCV000403827\|RCV000456714\|RCV000574048\|RCV003317183\|RCV003475925;	N	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 Phenotype Ontology:HP:	1	17380468	17380468	NC_000001.10:g.17380468G>C	ClinGen:CA089631	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.47C>T (p.Thr16Ile)	6390	SDHB	Uncertain significance	775350144	RCV000821339;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380468	17380468	1:g.17380468G>A	-
NM_003000.3(SDHB):c.18_47del (p.Leu7_Thr16del)	6390	SDHB	Uncertain significance	-1	RCV003021339;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380468	17380497	NC_000001.10:g.17380469_17380498del	-
NM_003000.3(SDHB):c.46A>C (p.Thr16Pro)	6390	SDHB	Uncertain significance	1433760506	RCV000544948;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380469	17380469	1:g.17380469T>G	ClinGen:CA338230711	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.45C>T (p.Ala15=)	6390	SDHB	Likely benign	764875162	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	1:g.17380470G>A	-
NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer)	6390	SDHB	Pathogenic	2101551748	RCV001975219;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380472	17380473	17380472	-
NM_003000.3(SDHB):c.42G>A (p.Pro14=)	6390	SDHB	Likely benign	760753435	RCV000566937\|RCV000920843;	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	17380473	17380473	1:g.17380473C>T	ClinGen:CA089627	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.41C>A (p.Pro14Gln)	6390	SDHB	Uncertain significance	764089231	RCV002046965;	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	17380474	17380474	17380474	-
NM_003000.3(SDHB):c.40C>T (p.Pro14Ser)	6390	SDHB	Uncertain significance	-1	RCV002756411;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380475	17380475	NC_000001.10:g.17380475G>A	-
NM_003000.3(SDHB):c.39G>T (p.Leu13Phe)	6390	SDHB	Uncertain significance	201745731	RCV000227644;	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	17380476	17380476	1:g.17380476C>A	ClinGen:CA10581755	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.39G>C (p.Leu13Phe)	6390	SDHB	Uncertain significance	201745731	RCV000808389;	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	17380476	17380476	1:g.17380476C>G	-
NM_003000.3(SDHB):c.35G>C (p.Arg12Pro)	6390	SDHB	Uncertain significance	1293365726	RCV000705407\|RCV002458311;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380480	17380480	NC_000001.10:g.17380480C>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.34C>T (p.Arg12Trp)	6390	SDHB	Uncertain significance	761996626	RCV000566006\|RCV000822512;	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	17380481	17380481	1:g.17380481G>A	ClinGen:CA338230823	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.34C>A (p.Arg12=)	6390	SDHB	Likely benign	761996626	RCV000930368\|RCV002454112;	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	17380481	17380481	1:g.17380481G>T	-
NM_003000.3(SDHB):c.33C>T (p.Arg11=)	6390	SDHB	Likely benign	146399542	RCV000633981\|RCV000842402\|RCV002458017;	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	17380482	17380482	1:g.17380482G>A	ClinGen:CA089591	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.33C>G (p.Arg11=)	6390	SDHB	Likely benign	146399542	RCV002454371\|RCV002192364;	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	17380482	17380482	17380482	-
NM_003000.3(SDHB):c.32G>A (p.Arg11His)	6390	SDHB	Conflicting interpretations of pathogenicity	111430410	RCV000148868\|RCV000232749\|RCV000505348\|RCV000568010\|RCV000607044\|RCV000662963\|RCV000986269\|RCV001253761\|RCV001731321\|RCV002250465\|RCV002250466\|RCV002477028;	N	Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074, Orphanet:47044\|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	17380483	17380483	1:g.17380483C>T	ClinGen:CA015753	C0018553 Cowden syndrome;
NM_003000.3(SDHB):c.32G>C (p.Arg11Pro)	6390	SDHB	Uncertain significance	-1	RCV002695368;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380483	17380483	NC_000001.10:g.17380483C>G	-
NM_003000.3(SDHB):c.30G>T (p.Arg10Ser)	6390	SDHB	Uncertain significance	1024111417	RCV001890192\|RCV003355603;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380485	17380485	17380485	-
NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)	6390	SDHB	Conflicting interpretations of pathogenicity	1570963545	RCV001017896\|RCV001873304\|RCV003473582;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17380486	17380486	1:g.17380486C>T	-
NM_003000.3(SDHB):c.28A>G (p.Arg10Gly)	6390	SDHB	Uncertain significance	-1	RCV003066681;	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	17380487	17380487	NC_000001.10:g.17380487T>C	-
NM_003000.3(SDHB):c.27G>C (p.Leu9Phe)	6390	SDHB	Uncertain significance	2101551820	RCV002009689;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380488	17380488	17380488	-
NM_003000.3(SDHB):c.25T>A (p.Leu9Met)	6390	SDHB	Uncertain significance	-1	RCV003048571;	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	17380490	17380490	NC_000001.10:g.17380490A>T	-
NM_003000.3(SDHB):c.22_23del (p.Ser8fs)	6390	SDHB	Pathogenic	1060503767	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; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310, Orphanet:29072; Human Phenotype Ontology:HP:	1	17380492	17380493	NC_000001.10:g.17380493AG[1]	ClinGen:CA16609954	C1861848 115310 Paragangliomas 4;
NM_003000.3(SDHB):c.23C>A (p.Ser8Tyr)	6390	SDHB	Uncertain significance	199848267	RCV001037637;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380492	17380492	1:g.17380492G>T	-
NM_003000.3(SDHB):c.22dup (p.Ser8fs)	6390	SDHB	Pathogenic	2101551846	RCV001946951;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380492	17380493	17380492	-
NM_003000.3(SDHB):c.21C>G (p.Leu7=)	6390	SDHB	Conflicting interpretations of pathogenicity	147815442	RCV000575644\|RCV000872308\|RCV003441961;	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	17380494	17380494	1:g.17380494G>C	ClinGen:CA089545	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.20T>A (p.Leu7His)	6390	SDHB	Uncertain significance	778776844	RCV002012700\|RCV002423212;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380495	17380495	17380495	-
NM_003000.3(SDHB):c.19C>T (p.Leu7Phe)	6390	SDHB	Uncertain significance	745664191	RCV000633953\|RCV001014000;	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	17380496	17380496	1:g.17380496G>A	ClinGen:CA089527	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.18_19delinsAT (p.Leu7Phe)	6390	SDHB	Uncertain significance	2078164049	RCV001324318;	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	17380496	17380497	17380496	-
NM_003000.3(SDHB):c.17_18delinsTA (p.Ala6Val)	6390	SDHB	Uncertain significance	-1	RCV003060662;	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	17380497	17380498	NC_000001.10:g.17380497_17380498delinsTA	-
NM_003000.3(SDHB):c.16G>T (p.Ala6Ser)	6390	SDHB	Uncertain significance	1472284221	RCV001364779\|RCV002413867;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380499	17380499	17380499	-
NM_003000.3(SDHB):c.16G>C (p.Ala6Pro)	6390	SDHB	Uncertain significance	-1	RCV003041696;	N	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:171300, Orphanet:29072; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380499	17380499	NC_000001.10:g.17380499C>G	-
NM_003000.3(SDHB):c.15C>A (p.Val5=)	6390	SDHB	Likely benign	1182998682	RCV000562714\|RCV000945450;	N	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:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM	1	17380500	17380500	1:g.17380500G>T	ClinGen:CA416048822	C0027672 Hereditary cancer-predisposing syndrome;
NM_003000.3(SDHB):c.15C>T (p.Val5=)	6390	SDHB	Likely benign	1182998682	RCV001012308\|RCV001482378;	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	17380500	17380500	1:g.17380500G>A	-
NM_003000.3(SDHB):c.15C>G (p.Val5=)	6390	SDHB	Likely benign	1182998682	RCV001466220\|RCV002405092;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380500	17380500	17380500	-
NM_003000.3(SDHB):c.14T>G (p.Val5Gly)	6390	SDHB	Uncertain significance	760565241	RCV000547089\|RCV001011890\|RCV001584249\|RCV003476236;	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	17380501	17380501	1:g.17380501A>C	ClinGen:CA089519	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.14T>C (p.Val5Ala)	6390	SDHB	Uncertain significance	760565241	RCV000804910\|RCV003472381;	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	17380501	17380501	1:g.17380501A>G	-
NM_003000.3(SDHB):c.13G>C (p.Val5Leu)	6390	SDHB	Uncertain significance	962717797	RCV000473243;	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	17380502	17380502	NC_000001.10:g.17380502C>G	ClinGen:CA16609945	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.13G>T (p.Val5Phe)	6390	SDHB	Uncertain significance	962717797	RCV000696453;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380502	17380502	NC_000001.10:g.17380502C>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.3(SDHB):c.12G>A (p.Val4=)	6390	SDHB	Likely benign	768683606	RCV000876746\|RCV001010854;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380503	17380503	1:g.17380503C>T	-
NM_003000.3(SDHB):c.12G>C (p.Val4=)	6390	SDHB	Likely benign	768683606	RCV002072807;	N	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:606764, Orphanet:44890; MONDO:MONDO:0007273,MedGen:C1861848,OMIM:1	1	17380503	17380503	17380503	-
NM_003000.3(SDHB):c.8C>A (p.Ala3Glu)	6390	SDHB	Uncertain significance	11203289	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	17380507	-
NM_003000.3(SDHB):c.5C>T (p.Ala2Val)	6390	SDHB	Uncertain significance	199948437	RCV000633973\|RCV002268223\|RCV002358781;	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	17380510	17380510	1:g.17380510G>A	ClinGen:CA089676	C0238198 606764 Gastrointestinal stroma tumor;
NM_003000.2(SDHB):c.-81G>T	6390	SDHB	Uncertain significance	886045586	RCV000270785\|RCV000328114;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	1	17380595	17380595	NC_000001.10:g.17380595C>A	ClinGen:CA10608251	C1847319 606864 Paraganglioma and gastric stromal sarcoma;
NM_003001.5(SDHC):c.-32T>C	6391	SDHC	Benign	115782155	RCV000293942\|RCV000444699\|RCV001810872\|RCV003316509;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072	1	161284164	161284164	1:g.161284164T>C	ClinGen:CA089450	CN169374 not specified;
NM_003001.5(SDHC):c.8C>T (p.Ala3Val)	6391	SDHC	Uncertain significance	142139022	RCV000148872\|RCV000471140\|RCV000563869\|RCV002464125\|RCV002465536;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072; Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:6	1	161284203	161284203	1:g.161284203C>T	ClinGen:CA011497	C0238198 606764 Gastrointestinal stroma tumor;
NM_003001.5(SDHC):c.21-10dup	6391	SDHC	Conflicting interpretations of pathogenicity	759481419	RCV000313704\|RCV001718594\|RCV002255354;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	1	161293392	161293393	1:g.161293392_161293393insT	ClinGen:CA046470	CN169374 not specified;
NM_003001.5(SDHC):c.406-13del	6391	SDHC	Uncertain significance	752685687	RCV000319172;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161332106	161332106	NC_000001.10:g.161332106del	ClinGen:CA046756	C0031511 171300 Pheochromocytoma;
NM_003001.5(SDHC):c.*84G>C	6391	SDHC	Conflicting interpretations of pathogenicity	201210474	RCV000034692\|RCV000122004\|RCV000203076\|RCV000211525\|RCV001093726\|RCV001522524\|RCV002256015;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MO	1	161332307	161332307	1:g.161332307G>C	ClinGen:CA011488	CN517202 not provided;
NM_003001.5(SDHC):c.*397G>A	6391	SDHC	Uncertain significance	74124906	RCV000292734;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161332620	161332620	NC_000001.10:g.161332620G>A	ClinGen:CA10608581	C0031511 171300 Pheochromocytoma;
NM_003001.5(SDHC):c.*518G>A	6391	SDHC	Uncertain significance	375109418	RCV000299067;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161332741	161332741	NC_000001.10:g.161332741G>A	ClinGen:CA10608032	C0031511 171300 Pheochromocytoma;
NM_003001.5(SDHC):c.*527G>T	6391	SDHC	Uncertain significance	886045481	RCV000353963;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161332750	161332750	NC_000001.10:g.161332750G>T	ClinGen:CA10608542	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1012G>T	6391	SDHC	Uncertain significance	886045484	RCV000328424;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333235	161333235	1:g.161333235G>T	ClinGen:CA10608543	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1098T>C	6391	SDHC	Uncertain significance	569588829	RCV000293423;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333321	161333321	1:g.161333321T>C	ClinGen:CA10608189	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.1181_1182insA	6391	SDHC	Benign	34067216	RCV000329756;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333404	161333405	1:g.161333404_161333405insA	ClinGen:CA10608589	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1314C>A	6391	SDHC	Uncertain significance	376293449	RCV000335179;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333537	161333537	1:g.161333537C>A	ClinGen:CA10608038	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1332C>A	6391	SDHC	Uncertain significance	886045485	RCV000281236;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333555	161333555	1:g.161333555C>A	ClinGen:CA10608190	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1481G>A	6391	SDHC	Uncertain significance	886045486	RCV000341850;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333704	161333704	1:g.161333704G>A	ClinGen:CA10608600	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1534G>T	6391	SDHC	Uncertain significance	886045487	RCV000396733;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333757	161333757	1:g.161333757G>T	ClinGen:CA10608608	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1584C>G	6391	SDHC	Uncertain significance	886045488	RCV000306956;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333807	161333807	1:g.161333807C>G	ClinGen:CA10608547	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1693G>A	6391	SDHC	Likely benign	191417790	RCV000363683;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333916	161333916	1:g.161333916G>A	ClinGen:CA10608040	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1695G>T	6391	SDHC	Uncertain significance	886045489	RCV000271389;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333918	161333918	NC_000001.10:g.161333918G>T	ClinGen:CA10608041	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1699A>G	6391	SDHC	Uncertain significance	886045490	RCV000310077;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161333922	161333922	NC_000001.10:g.161333922A>G	ClinGen:CA10608195	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1784G>C	6391	SDHC	Uncertain significance	886045491	RCV000275038;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161334007	161334007	NC_000001.10:g.161334007G>C	ClinGen:CA10608044	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1843C>A	6391	SDHC	Uncertain significance	886045492	RCV000389237;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161334066	161334066	NC_000001.10:g.161334066C>A	ClinGen:CA10608202	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*1898C>A	6391	SDHC	Uncertain significance	886045493	RCV000316841;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161334121	161334121	NC_000001.10:g.161334121C>A	ClinGen:CA10608551	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*2141C>A	6391	SDHC	Uncertain significance	886045494	RCV000377337;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161334364	161334364	NC_000001.10:g.161334364C>A	ClinGen:CA10608562	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*2236C>A	6391	SDHC	Uncertain significance	886045495	RCV000342735;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161334459	161334459	NC_000001.10:g.161334459C>A	ClinGen:CA10608049	C0031511 171300 Pheochromocytoma;
NM_003001.4(SDHC):c.*2264G>T	6391	SDHC	Uncertain significance	886045496	RCV000403425;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161334487	161334487	NC_000001.10:g.161334487G>T	ClinGen:CA10608205	C0031511 171300 Pheochromocytoma;
NM_001013625.4(CFAP126):c.*221del	6391	SDHC	Benign	57914150	RCV000301880;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	1	161334534	161334534	1:g.161334534_161334534del	ClinGen:CA10654430	C0031511 171300 Pheochromocytoma;
NC_000011.9:g.(?_111171709)_(111965694_?)del	6392	SDHD	Pathogenic	-1	RCV001032115;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:1	11	111171709	111965694	-1	-
NC_000011.9:g.(?_111171709)_(111959745_?)del	6392	SDHD	Pathogenic	-1	RCV003113183;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111171709	111959745		-
NC_000011.9:g.(?_111171709)_(111958707_?)del	6392	SDHD	Pathogenic	-1	RCV003113185;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111171709	111958707		-
NC_000011.9:g.(?_111956548)_(111967525_?)del	6392	SDHD	Pathogenic	-1	RCV002242855;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111956548	111967525	-1	-
NC_000011.9:g.(?_111957547)_(111958707_?)del	6392	SDHD	Pathogenic	-1	RCV001390574;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:C	11	111957547	111958707	-1	-
NC_000011.9:g.(?_111957547)_(111959745_?)dup	6392	SDHD	Uncertain significance	-1	RCV003113184;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957547	111959745		-
NM_003002.3(SDHD):c.-84_*831del	6392	SDHD	Pathogenic	-1	RCV000226312;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072	11	111957548	111966525		-	C1868633 168000 Paragangliomas 1;
NC_000011.9:g.(?_111957622)_(111965704_?)dup	6392	SDHD	Uncertain significance	-1	RCV000708165;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; 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:0014045,MedGen:C	11	111957622	111965704		-	C3554516 Cowden syndrome 3;
NC_000011.10:g.(?_112086898)_(112094980_?)del	6392	SDHD	Pathogenic	-1	RCV000708359\|RCV001861929;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; 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:0014045,MedGen:C	11	111957622	111965704		-	C3554516 Cowden syndrome 3;
NC_000011.10:g.(?_112086902)_(112094975_?)del	6392	SDHD	Pathogenic	-1	RCV001032944;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; MONDO:MONDO:0014045,MedGen:C	11	111957626	111965699	-1	-
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)	6392	SDHD	Pathogenic	104894307	RCV000485004\|RCV000492287\|RCV002526633;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:	11	111957632	111957632	NC_000011.9:g.111957632A>T	ClinGen:CA070834
NC_000011.9:g.(?_111957632)_(111965694_?)dup	6392	SDHD	Uncertain significance	-1	RCV001896598;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957632	111965694	-1	-
NC_000011.9:g.(?_111957632)_(111965694_?)del	6392	SDHD	Pathogenic	-1	RCV001921932;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957632	111965694	-1	-
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)	6392	SDHD	Pathogenic	80338842	RCV002232947\|RCV002369946;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111957634	111957634	NC_000011.9:g.111957634G>A	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.4G>A (p.Ala2Thr)	6392	SDHD	Uncertain significance	1401420432	RCV002534673;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957635	111957635	11:g.111957635G>A	-
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly)	6392	SDHD	Uncertain significance	1440670464	RCV002533666;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111957636	111957636	11:g.111957636C>G	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.5C>T (p.Ala2Val)	6392	SDHD	Uncertain significance	1440670464	RCV002240475\|RCV002355047;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111957636	111957636	11:g.111957636C>T	-
NM_003002.4(SDHD):c.6G>A (p.Ala2=)	6392	SDHD	Likely benign	1592777160	RCV002235827;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111957637	111957637	11:g.111957637G>A	-
NM_003002.4(SDHD):c.7G>T (p.Val3Phe)	6392	SDHD	Uncertain significance	1555186656	RCV002526129;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111957638	111957638	11:g.111957638G>T	ClinGen:CA382616622	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.7G>A (p.Val3Ile)	6392	SDHD	Uncertain significance	1555186656	RCV001962239;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957638	111957638	111957638	-
NM_003002.4(SDHD):c.7G>C (p.Val3Leu)	6392	SDHD	Uncertain significance	1555186656	RCV001921465;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957638	111957638	111957638	-
NM_003002.4(SDHD):c.10dup (p.Leu4fs)	6392	SDHD	Pathogenic	878854589	RCV000232971\|RCV002229658;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C	11	111957640	111957641	11:g.111957640_111957641insC	ClinGen:CA10582865	C1847319 606864 Paraganglioma and gastric stromal sarcoma;
NM_003002.4(SDHD):c.9T>A (p.Val3=)	6392	SDHD	Likely benign	1555186657	RCV002526130;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111957640	111957640	11:g.111957640T>A	ClinGen:CA476789066	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)	6392	SDHD	Uncertain significance	1032016970	RCV001017297\|RCV003153887;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedG	11	111957641	111957641	11:g.111957641C>T	-
NM_003002.4(SDHD):c.12C>T (p.Leu4=)	6392	SDHD	Likely benign	2135264636	RCV002116952;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111957643	111957643	111957643	-
NM_003002.4(SDHD):c.13_14del (p.Trp5fs)	6392	SDHD	Pathogenic	1566690018	RCV000756633\|RCV002234117;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957644	111957645	NC_000011.9:g.111957644_111957645del	-
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)	6392	SDHD	Pathogenic	104894310	RCV000007325\|RCV001851719;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen	11	111957645	111957645	11:g.111957645G>A	ClinGen:CA016834,OMIM:602690.0026	C0031511 171300 Pheochromocytoma;
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)	6392	SDHD	Pathogenic	-1	RCV002601701;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957646	111957646	NC_000011.9:g.111957646G>A	-
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly)	6392	SDHD	Uncertain significance	11547889	RCV002533530;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111957647	111957647	NC_000011.9:g.111957647A>G	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)	6392	SDHD	Pathogenic/Likely pathogenic	1555186662	RCV000660261\|RCV002235529;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:C	11	111957648	111957651	NC_000011.9:g.111957649_111957652del	-	C1868633 168000 Paragangliomas 1;
NM_003002.4(SDHD):c.17G>A (p.Arg6Lys)	6392	SDHD	Uncertain significance	-1	RCV002407887\|RCV003097253;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111957648	111957648	111957648	-
NM_003002.4(SDHD):c.18G>T (p.Arg6Ser)	6392	SDHD	Uncertain significance	200895313	RCV002534431;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111957649	111957649	11:g.111957649G>T	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.19C>T (p.Leu7=)	6392	SDHD	Likely benign	1337542194	RCV002232275\|RCV002420438;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D	11	111957650	111957650	11:g.111957650C>T	ClinGen:CA476789073	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.20T>G (p.Leu7Arg)	6392	SDHD	Uncertain significance	1865619523	RCV002241255;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111957651	111957651	11:g.111957651T>G	-
NM_003002.4(SDHD):c.20T>A (p.Leu7Gln)	6392	SDHD	Uncertain significance	1865619523	RCV002242207;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957651	111957651	111957651	-
NM_003002.4(SDHD):c.20T>C (p.Leu7Pro)	6392	SDHD	Uncertain significance	1865619523	RCV001974679;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957651	111957651	111957651	-
NM_003002.4(SDHD):c.21G>A (p.Leu7=)	6392	SDHD	Likely benign	974401612	RCV000567618\|RCV002232276;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedG	11	111957652	111957652	11:g.111957652G>A	ClinGen:CA228550366	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.21G>T (p.Leu7=)	6392	SDHD	Likely benign	-1	RCV003036467;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111957652	111957652		-
NM_003002.4(SDHD):c.22A>G (p.Ser8Gly)	6392	SDHD	Uncertain significance	1865619629	RCV002240503;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111957653	111957653	11:g.111957653A>G	-
NM_003002.4(SDHD):c.23G>A (p.Ser8Asn)	6392	SDHD	Uncertain significance	558914063	RCV002242662\|RCV002432047;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111957654	111957654	111957654	-
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr)	6392	SDHD	Uncertain significance	772671893	RCV002235908;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957656	111957656	11:g.111957656G>A	-
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser)	6392	SDHD	Uncertain significance	772671893	RCV002234310;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957656	111957656	11:g.111957656G>T	-
NM_003002.4(SDHD):c.26C>G (p.Ala9Gly)	6392	SDHD	Uncertain significance	1592777287	RCV002233821;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957657	111957657	11:g.111957657C>G	-
NM_003002.4(SDHD):c.26C>T (p.Ala9Val)	6392	SDHD	Uncertain significance	1592777287	RCV001897777\|RCV002255697;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111957657	111957657	111957657	-
NM_003002.4(SDHD):c.27C>A (p.Ala9=)	6392	SDHD	Likely benign	1555186670	RCV002526125;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111957658	111957658	11:g.111957658C>A	ClinGen:CA476789082	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.27C>T (p.Ala9=)	6392	SDHD	Likely benign	1555186670	RCV002089203\|RCV002434537;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111957658	111957658	111957658	-
NM_003002.4(SDHD):c.28G>A (p.Val10Ile)	6392	SDHD	Uncertain significance	1555186671	RCV002438373\|RCV002526126\|RCV003476277;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedG	11	111957659	111957659	11:g.111957659G>A	ClinGen:CA382616687	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)	6392	SDHD	Pathogenic	104894309	RCV000007324\|RCV000221327\|RCV002228012\|RCV002288472;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen	11	111957664	111957664	NC_000011.9:g.111957664C>A	ClinGen:CA016967,OMIM:602690.0025	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.33C>T (p.Cys11=)	6392	SDHD	Likely benign	104894309	RCV002123825;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957664	111957664	111957664	-
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	6392	SDHD	Conflicting interpretations of pathogenicity	34677591	RCV000007299\|RCV000007300\|RCV000007302\|RCV000034697\|RCV000122006\|RCV000162470\|RCV000988742\|RCV001807000\|RCV002228001;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MOND	11	111957665	111957665	11:g.111957665G>A	ClinGen:CA016980,UniProtKB:O14521#VAR_017870,OMIM:602690.0011	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.34G>C (p.Gly12Arg)	6392	SDHD	Uncertain significance	-1	RCV003061423;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111957665	111957665	NC_000011.9:g.111957665G>C	-
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp)	6392	SDHD	Uncertain significance	764384503	RCV002528396\|RCV003476278;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0030937,MedGen	11	111957666	111957666	11:g.111957666G>A	ClinGen:CA071285	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.35G>T (p.Gly12Val)	6392	SDHD	Uncertain significance	764384503	RCV001960997;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957666	111957666	111957666	-
NM_003002.4(SDHD):c.36T>G (p.Gly12=)	6392	SDHD	Likely benign	1592777328	RCV002235712;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111957667	111957667	11:g.111957667T>G	-
NM_003002.4(SDHD):c.37G>A (p.Ala13Thr)	6392	SDHD	Uncertain significance	940936212	RCV002533254;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957668	111957668	11:g.111957668G>A	ClinGen:CA382616718	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.37G>T (p.Ala13Ser)	6392	SDHD	Uncertain significance	940936212	RCV002233051\|RCV002358819;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111957668	111957668	11:g.111957668G>T	ClinGen:CA228550401	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.38C>T (p.Ala13Val)	6392	SDHD	Uncertain significance	750080041	RCV002352137\|RCV002544905;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|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:0014045,MedGen	11	111957669	111957669	NC_000011.9:g.111957669C>T	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.38C>G (p.Ala13Gly)	6392	SDHD	Uncertain significance	750080041	RCV002239340;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111957669	111957669	11:g.111957669C>G	-
NM_003002.4(SDHD):c.39C>T (p.Ala13=)	6392	SDHD	Likely benign	1566690237	RCV002235696\|RCV002354795;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111957670	111957670	11:g.111957670C>T	-
NM_003002.4(SDHD):c.42A>G (p.Leu14=)	6392	SDHD	Likely benign	878854593	RCV002229349\|RCV002327128;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111957673	111957673	11:g.111957673A>G	ClinGen:CA10582866	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg)	6392	SDHD	Uncertain significance	1476121898	RCV002235295;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957674	111957674	11:g.111957674G>C	-
NM_003002.4(SDHD):c.44_52+24del	6392	SDHD	Likely pathogenic	1865621296	RCV002241089;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111957674	111957706	11:g.111957674_111957706del	-
NM_003002.4(SDHD):c.44G>C (p.Gly15Ala)	6392	SDHD	Uncertain significance	1865621392	RCV002241767\|RCV002327653;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111957675	111957675	111957675	-
NM_003002.4(SDHD):c.45A>T (p.Gly15=)	6392	SDHD	Likely benign	2135264801	RCV002236375;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111957676	111957676	111957676	-
NM_003002.4(SDHD):c.46G>C (p.Gly16Arg)	6392	SDHD	Uncertain significance	1555186687	RCV002526128;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111957677	111957677	11:g.111957677G>C	ClinGen:CA382616749	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys)	6392	SDHD	Uncertain significance	1555186687	RCV001853704\|RCV003139772;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MedGen:C3661900	11	111957677	111957677	11:g.111957677G>T	ClinGen:CA382616751	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.48C>T (p.Gly16=)	6392	SDHD	Likely benign	1555186688	RCV000569214\|RCV002232660;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MOND	11	111957679	111957679	NC_000011.9:g.111957679C>T	ClinGen:CA476789208	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.49C>G (p.Arg17Gly)	6392	SDHD	Uncertain significance	1314133983	RCV001819909\|RCV002241392\|RCV002339577\|RCV003129736;	N	MedGen:CN169374\|MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MOND	11	111957680	111957680	11:g.111957680C>G	-
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)	6392	SDHD	Pathogenic	1314133983	RCV002334687\|RCV002540717\|RCV003107848\|RCV003451913;	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:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen	11	111957680	111957680	111957680	-
NM_003002.4(SDHD):c.50G>A (p.Arg17Gln)	6392	SDHD	Uncertain significance	1865621723	RCV002242695;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957681	111957681	111957681	-
NM_003002.4(SDHD):c.51A>C (p.Arg17=)	6392	SDHD	Uncertain significance	199890548	RCV002229352;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957682	111957682	NC_000011.9:g.111957682A>C	ClinGen:CA10582867	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.52+1G>A	6392	SDHD	Pathogenic	1592777386	RCV001023716\|RCV001873376;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111957684	111957684	11:g.111957684G>A	-
NM_003002.4(SDHD):c.52+1_52+2delinsAA	6392	SDHD	Pathogenic/Likely pathogenic	-1	RCV002338627\|RCV003102704;	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:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen	11	111957684	111957685	111957684	-
NM_003002.4(SDHD):c.52+2T>G	6392	SDHD	Likely pathogenic	587776644	RCV000007298\|RCV002243626;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957685	111957685	NC_000011.9:g.111957685T>G	ClinGen:CA017068,OMIM:602690.0010	C1868633 168000 Paragangliomas 1;
NM_003002.4(SDHD):c.52+2T>C	6392	SDHD	Pathogenic	587776644	RCV002537516;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957685	111957685	11:g.111957685T>C	-
NM_003002.4(SDHD):c.52+8dup	6392	SDHD	Likely benign	2135264855	RCV002240294;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111957687	111957688	111957687	-
NM_003002.4(SDHD):c.52+5G>C	6392	SDHD	Uncertain significance	1592777393	RCV001023717\|RCV002534889;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MOND	11	111957688	111957688	11:g.111957688G>C	-
NM_003002.4(SDHD):c.52+5G>A	6392	SDHD	Uncertain significance	1592777393	RCV002241564\|RCV002339687;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111957688	111957688	11:g.111957688G>A	-
NM_003002.4(SDHD):c.52+8del	6392	SDHD	Benign	2135264855	RCV002134323;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957688	111957688	111957687	-
NM_003002.4(SDHD):c.52+6G>A	6392	SDHD	Uncertain significance	1416678757	RCV002232280;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111957689	111957689	11:g.111957689G>A	ClinGen:CA601744404	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.52+7G>C	6392	SDHD	Likely benign	2135264872	RCV002177116;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957690	111957690	111957690	-
NM_003002.4(SDHD):c.52+8G>A	6392	SDHD	Likely benign	370761122	RCV002240865;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111957691	111957691	111957691	-
NM_003002.4(SDHD):c.52+10C>G	6392	SDHD	Likely benign	2135264901	RCV002126412;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957693	111957693	111957693	-
NM_003002.4(SDHD):c.52+12T>C	6392	SDHD	Likely benign	1865622422	RCV002147488;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957695	111957695	111957695	-
NM_003002.4(SDHD):c.52+13C>G	6392	SDHD	Likely benign	954474648	RCV002132718;	N	MedGen:C1868633; 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:0014045,MedGen:CN166604, Orphanet:201	11	111957696	111957696	111957696	-
NM_003002.4(SDHD):c.52+15C>T	6392	SDHD	Likely benign	1486681280	RCV002127905;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957698	111957698	111957698	-
NM_003002.4(SDHD):c.52+17C>T	6392	SDHD	Likely benign	2135264969	RCV002132720;	N	MedGen:C1868633; 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:0014045,MedGen:CN166604, Orphanet:201	11	111957700	111957700	111957700	-
NM_003002.4(SDHD):c.52+18C>T	6392	SDHD	Likely benign	-1	RCV003049713;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111957701	111957701	NC_000011.9:g.111957701C>T	-
NM_003002.4(SDHD):c.52+19C>T	6392	SDHD	Likely benign	1566690388	RCV002156317;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111957702	111957702	111957702	-
NM_003002.4(SDHD):c.53-52_53-49del	6392	SDHD	Benign/Likely benign	562618773	RCV000605327\|RCV002256403\|RCV003153758;	N	MedGen:CN169374\|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:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C18	11	111958526	111958529	NC_000011.9:g.111958529_111958532del	ClinGen:CA228550922	CN169374 not specified;
NM_003002.4(SDHD):c.53-18T>C	6392	SDHD	Likely benign	-1	RCV002877203;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958563	111958563	NC_000011.9:g.111958563T>C	-
NM_003002.4(SDHD):c.53-17A>G	6392	SDHD	Likely benign	1166658454	RCV002087523;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111958564	111958564	111958564	-
NM_003002.4(SDHD):c.53-16A>G	6392	SDHD	Uncertain significance	915385437	RCV001908644;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111958565	111958565	111958565	-
NM_003002.4(SDHD):c.53-14G>A	6392	SDHD	Likely benign	-1	RCV002735762;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958567	111958567	NC_000011.9:g.111958567G>A	-
NM_003002.4(SDHD):c.53-12C>G	6392	SDHD	Likely benign	2135266862	RCV002096124;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111958569	111958569	111958569	-
NM_003002.4(SDHD):c.53-12C>T	6392	SDHD	Likely benign	2135266862	RCV002215024;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958569	111958569	111958569	-
NM_003002.4(SDHD):c.53-9_53-6del	6392	SDHD	Uncertain significance	1592778629	RCV002538119;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958570	111958573	11:g.111958570_111958573del	-
NM_003002.4(SDHD):c.53-10C>G	6392	SDHD	Likely benign	201350484	RCV002240349;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111958571	111958571	11:g.111958571C>G	-
NM_003002.4(SDHD):c.53-8_53-7del	6392	SDHD	Likely benign	765322445	RCV002073899;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958572	111958573	111958571	-
NM_003002.4(SDHD):c.53-7_53-3del	6392	SDHD	Conflicting interpretations of pathogenicity	1865650219	RCV002242230\|RCV002350572;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111958574	111958578	111958573	-
NM_003002.4(SDHD):c.53-7T>C	6392	SDHD	Likely benign	-1	RCV002933644;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958574	111958574	NC_000011.9:g.111958574T>C	-
NM_003002.4(SDHD):c.53-6C>T	6392	SDHD	Likely benign	757454290	RCV002230891;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958575	111958575	NC_000011.9:g.111958575C>T	ClinGen:CA071508	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.53-6C>A	6392	SDHD	Uncertain significance	757454290	RCV001105196\|RCV002240650\|RCV003473717;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphan	11	111958575	111958575	11:g.111958575C>A	-
NM_003002.4(SDHD):c.53-5C>T	6392	SDHD	Likely benign	913670110	RCV003154034;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111958576	111958576	111958576	-
NM_003002.4(SDHD):c.53-3C>T	6392	SDHD	Uncertain significance	-1	RCV003047794\|RCV003348982;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111958578	111958578	NC_000011.9:g.111958578C>T	-
NM_003002.4(SDHD):c.53-2A>C	6392	SDHD	Likely pathogenic	-1	RCV003005720;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958579	111958579	NC_000011.9:g.111958579A>C	-
NM_003002.4(SDHD):c.53dup (p.Leu19fs)	6392	SDHD	Pathogenic	886041237	RCV000349345\|RCV000492278\|RCV000505366\|RCV001523821\|RCV002229731;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0011740,Me	11	111958580	111958581	NC_000011.9:g.111958581dup	ClinGen:CA10603234
NM_003002.4(SDHD):c.53-1_53delinsTT	6392	SDHD	Likely pathogenic	1566691921	RCV000703186;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; 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:0014045,MedGen:C	11	111958580	111958581	NC_000011.9:g.111958580_111958581delinsTT	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.53-1G>T	6392	SDHD	Likely pathogenic	1291507545	RCV002242783;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111958580	111958580	111958580	-
NM_003002.4(SDHD):c.56T>C (p.Leu19Pro)	6392	SDHD	Uncertain significance	574698019	RCV001928163\|RCV003167166;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111958584	111958584	111958584	-
NM_003002.4(SDHD):c.57G>A (p.Leu19=)	6392	SDHD	Likely benign	560625389	RCV002233497\|RCV002358820;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111958585	111958585	11:g.111958585G>A	ClinGen:CA071538	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.58T>C (p.Leu20=)	6392	SDHD	Likely benign	1298878168	RCV000567998\|RCV002232172;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MOND	11	111958586	111958586	11:g.111958586T>C	ClinGen:CA476789494	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.58T>A (p.Leu20Met)	6392	SDHD	Uncertain significance	1298878168	RCV002563854;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958586	111958586	11:g.111958586T>A	-
NM_003002.4(SDHD):c.60G>A (p.Leu20=)	6392	SDHD	Likely benign	2135266996	RCV002236380\|RCV002358999;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111958588	111958588	111958588	-
NM_003002.4(SDHD):c.61C>T (p.Leu21Phe)	6392	SDHD	Uncertain significance	1592778703	RCV001024998\|RCV002236269\|RCV002281150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedG	11	111958589	111958589	11:g.111958589C>T	-
NM_003002.4(SDHD):c.62T>C (p.Leu21Pro)	6392	SDHD	Uncertain significance	-1	RCV003027948;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958590	111958590	NC_000011.9:g.111958590T>C	-
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)	6392	SDHD	Pathogenic	104894306	RCV000007312\|RCV000193132\|RCV000492341\|RCV000657641\|RCV002228006;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, 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\|MedGen:C3661900\|MONDO:MOND	11	111958592	111958592	11:g.111958592C>T	ClinGen:CA016739,OMIM:602690.0012	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.64C>A (p.Arg22=)	6392	SDHD	Uncertain significance	104894306	RCV002242572;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111958592	111958592	111958592	-
NM_003002.4(SDHD):c.65G>A (p.Arg22Gln)	6392	SDHD	Uncertain significance	1555186772	RCV000574462\|RCV001859972;	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:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM	11	111958593	111958593	11:g.111958593G>A	ClinGen:CA382616925	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.65G>C (p.Arg22Pro)	6392	SDHD	Uncertain significance	-1	RCV002604828;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958593	111958593	NC_000011.9:g.111958593G>C	-
NM_003002.4(SDHD):c.69T>G (p.Thr23=)	6392	SDHD	Likely benign	1350100098	RCV002240285;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111958597	111958597	111958597	-
NM_003002.4(SDHD):c.69T>A (p.Thr23=)	6392	SDHD	Likely benign	1350100098	RCV002241041;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111958597	111958597	111958597	-
NM_003002.4(SDHD):c.70C>T (p.Pro24Ser)	6392	SDHD	Conflicting interpretations of pathogenicity	775986509	RCV002005249\|RCV002361328;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111958598	111958598	111958598	-
NM_003002.4(SDHD):c.71C>T (p.Pro24Leu)	6392	SDHD	Uncertain significance	1865651909	RCV001920137;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111958599	111958599	111958599	-
NM_003002.4(SDHD):c.72A>C (p.Pro24=)	6392	SDHD	Likely benign	1413100881	RCV002235757\|RCV002382169;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111958600	111958600	11:g.111958600A>C	-
NM_003002.4(SDHD):c.73G>T (p.Val25Leu)	6392	SDHD	Uncertain significance	878854597	RCV002229353\|RCV002378990;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111958601	111958601	NC_000011.9:g.111958601G>T	ClinGen:CA10582868	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys)	6392	SDHD	Benign/Likely benign	200671534	RCV000401338\|RCV000570227\|RCV001800653\|RCV002229861;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:	11	111958608	111958608	NC_000011.9:g.111958608G>A	ClinGen:CA071556	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr)	6392	SDHD	Uncertain significance	541477171	RCV002231791\|RCV002431616;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D	11	111958610	111958610	11:g.111958610C>A	ClinGen:CA382616956	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.82C>G (p.Pro28Ala)	6392	SDHD	Uncertain significance	541477171	RCV002544660;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958610	111958610	NC_000011.9:g.111958610C>G	ClinGen:CA382616957	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.82C>T (p.Pro28Ser)	6392	SDHD	Uncertain significance	541477171	RCV001876289\|RCV002429890;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111958610	111958610	11:g.111958610C>T	-
NM_003002.4(SDHD):c.83C>A (p.Pro28His)	6392	SDHD	Uncertain significance	2135267114	RCV001937267;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111958611	111958611	111958611	-
NM_003002.4(SDHD):c.84T>C (p.Pro28=)	6392	SDHD	Likely benign	2135267119	RCV002240904;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111958612	111958612	111958612	-
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro)	6392	SDHD	Uncertain significance	776930864	RCV001775826\|RCV002230657\|RCV002446849\|RCV003476139;	N	MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MOND	11	111958613	111958613	NC_000011.9:g.111958613G>C	ClinGen:CA071569	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.85G>A (p.Ala29Thr)	6392	SDHD	Uncertain significance	-1	RCV002715787\|RCV003167664;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111958613	111958613	NC_000011.9:g.111958613G>A	-
NM_003002.4(SDHD):c.86C>T (p.Ala29Val)	6392	SDHD	Uncertain significance	1555186774	RCV002233495;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958614	111958614	11:g.111958614C>T	ClinGen:CA382616965	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.89A>C (p.His30Pro)	6392	SDHD	Uncertain significance	1592778803	RCV002234954\|RCV002291699;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MedGen:C3661900	11	111958617	111958617	11:g.111958617A>C	-
NM_003002.4(SDHD):c.91A>G (p.Ile31Val)	6392	SDHD	Conflicting interpretations of pathogenicity	1865653068	RCV002240532\|RCV002374977\|RCV003151276;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111958619	111958619	11:g.111958619A>G	-
NM_003002.4(SDHD):c.93C>T (p.Ile31=)	6392	SDHD	Likely benign	766096986	RCV002235842\|RCV002372667;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111958621	111958621	11:g.111958621C>T	-
NM_003002.4(SDHD):c.93C>G (p.Ile31Met)	6392	SDHD	Uncertain significance	-1	RCV002373905\|RCV003120981;	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:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen	11	111958621	111958621	111958621	-
NM_003002.4(SDHD):c.95C>T (p.Ser32Leu)	6392	SDHD	Uncertain significance	104894305	RCV001994938;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111958623	111958623	111958623	-
NM_003002.4(SDHD):c.97G>A (p.Ala33Thr)	6392	SDHD	Uncertain significance	2135267174	RCV002030411;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111958625	111958625	111958625	-
NM_003002.4(SDHD):c.98C>A (p.Ala33Glu)	6392	SDHD	Uncertain significance	-1	RCV002806858;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958626	111958626	NC_000011.9:g.111958626C>A	-
NM_003002.4(SDHD):c.99A>G (p.Ala33=)	6392	SDHD	Likely benign	2135267182	RCV002240445;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111958627	111958627	111958627	-
NM_003002.4(SDHD):c.102T>A (p.Phe34Leu)	6392	SDHD	Uncertain significance	-1	RCV003012168;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958630	111958630	NC_000011.9:g.111958630T>A	-
NM_003002.4(SDHD):c.102T>G (p.Phe34Leu)	6392	SDHD	Uncertain significance	-1	RCV003044738;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111958630	111958630	NC_000011.9:g.111958630T>G	-
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)	6392	SDHD	Pathogenic	104894303	RCV000007295\|RCV000492417\|RCV001851718;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, 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; MONDO:MONDO:0014045,MedGen	11	111958634	111958634	11:g.111958634C>T	ClinGen:CA016759,OMIM:602690.0001	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.107A>G (p.Gln36Arg)	6392	SDHD	Uncertain significance	759143732	RCV001574655\|RCV002230193\|RCV002418427;	N	MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MOND	11	111958635	111958635	NC_000011.9:g.111958635A>G	ClinGen:CA16613211	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.107A>C (p.Gln36Pro)	6392	SDHD	Uncertain significance	759143732	RCV002242725\|RCV002420807;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111958635	111958635	111958635	-
NM_003002.4(SDHD):c.108G>T (p.Gln36His)	6392	SDHD	Uncertain significance	766884646	RCV002241405;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958636	111958636	11:g.111958636G>T	-
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)	6392	SDHD	Pathogenic/Likely pathogenic	1865654197	RCV001267980\|RCV002241653;	N	MedGen:C3661900\|MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958636	111958637	11:g.111958636_111958637insGACC	-
NM_003002.4(SDHD):c.109G>A (p.Asp37Asn)	6392	SDHD	Uncertain significance	1865654125	RCV002241941\|RCV002447331;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111958637	111958637	111958637	-
NM_003002.4(SDHD):c.110A>T (p.Asp37Val)	6392	SDHD	Uncertain significance	1865654258	RCV002240993;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111958638	111958638	11:g.111958638A>T	-
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)	6392	SDHD	Pathogenic	80338843	RCV000007296\|RCV000007297\|RCV000020518\|RCV000486967\|RCV000492087\|RCV002228000;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH	11	111958640	111958640	11:g.111958640C>T	ClinGen:CA016789,OMIM:602690.0002	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro)	6392	SDHD	Uncertain significance	199901239	RCV002232273\|RCV003159820;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D	11	111958641	111958641	11:g.111958641G>C	ClinGen:CA228551108	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.113G>A (p.Arg38Gln)	6392	SDHD	Uncertain significance	199901239	RCV002241639\|RCV002451612;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111958641	111958641	11:g.111958641G>A	-
NM_003002.4(SDHD):c.114A>G (p.Arg38=)	6392	SDHD	Likely benign	1555186794	RCV002526121;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111958642	111958642	11:g.111958642A>G	ClinGen:CA476789552	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.115C>A (p.Pro39Thr)	6392	SDHD	Uncertain significance	1043566340	RCV002240510\|RCV002374967;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111958643	111958643	11:g.111958643C>A	-
NM_003002.4(SDHD):c.118A>G (p.Ile40Val)	6392	SDHD	Uncertain significance	146276662	RCV001584275\|RCV002232274\|RCV002341328;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MOND	11	111958646	111958646	11:g.111958646A>G	ClinGen:CA070608	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)	6392	SDHD	Uncertain significance	1592778916	RCV002535923;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958647	111958647	11:g.111958647T>C	-
NM_003002.4(SDHD):c.120C>G (p.Ile40Met)	6392	SDHD	Uncertain significance	2135267285	RCV001886205;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958648	111958648	111958648	-
NM_003002.4(SDHD):c.121C>G (p.Pro41Ala)	6392	SDHD	Uncertain significance	764006625	RCV002233052;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958649	111958649	11:g.111958649C>G	ClinGen:CA382617028	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.121C>T (p.Pro41Ser)	6392	SDHD	Uncertain significance	764006625	RCV002241304;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958649	111958649	11:g.111958649C>T	-
NM_003002.4(SDHD):c.122C>T (p.Pro41Leu)	6392	SDHD	Uncertain significance	753724042	RCV002234755\|RCV002370133;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111958650	111958650	11:g.111958650C>T	-
NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs)	6392	SDHD	Pathogenic	1865655347	RCV001238971;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350, Orphanet:201; MONDO:MONDO:0008192,MedGen:C	11	111958652	111958655	11:g.111958653_111958655del	-
NM_003002.4(SDHD):c.124G>A (p.Glu42Lys)	6392	SDHD	Uncertain significance	756995021	RCV001910917\|RCV002397852;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111958652	111958652	111958652	-
NM_003002.4(SDHD):c.131G>A (p.Cys44Tyr)	6392	SDHD	Uncertain significance	1566692479	RCV002533453;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111958659	111958659	11:g.111958659G>A	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.136_143del (p.Val46fs)	6392	SDHD	Pathogenic	-1	RCV002889946;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958663	111958670	NC_000011.9:g.111958664_111958671del	-
NM_003002.4(SDHD):c.136G>A (p.Val46Met)	6392	SDHD	Uncertain significance	886047699	RCV000304784\|RCV002520673;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OM	11	111958664	111958664	NC_000011.9:g.111958664G>A	ClinGen:CA10637220	C0031511 171300 Pheochromocytoma;
NM_003002.4(SDHD):c.136G>T (p.Val46Leu)	6392	SDHD	Uncertain significance	886047699	RCV002241862;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111958664	111958664	111958664	-
NM_003002.4(SDHD):c.138G>A (p.Val46=)	6392	SDHD	Likely benign	2135267384	RCV002197480\|RCV002391176;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111958666	111958666	111958666	-
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)	6392	SDHD	Pathogenic	1865655722	RCV001565798\|RCV002241480;	N	MedGen:C3661900\|MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958667	111958667	11:g.111958667C>T	-
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg)	6392	SDHD	Uncertain significance	899706404	RCV001011433\|RCV001813776\|RCV002230002;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:	11	111958668	111958668	11:g.111958668A>G	ClinGen:CA16605858	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.141G>A (p.Gln47=)	6392	SDHD	Likely benign	1217254088	RCV002388074\|RCV002529998;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MOND	11	111958669	111958669	11:g.111958669G>A	ClinGen:CA476789570	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.147dup (p.His50fs)	6392	SDHD	Pathogenic/Likely pathogenic	876659130	RCV000217241\|RCV002228961\|RCV002288868;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|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:0014045,MedGen	11	111958674	111958675	11:g.111958674_111958675insA	ClinGen:CA10579345	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.146T>C (p.Ile49Thr)	6392	SDHD	Uncertain significance	1555186808	RCV002395386\|RCV002525293;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedG	11	111958674	111958674	11:g.111958674T>C	ClinGen:CA382617085	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.147A>G (p.Ile49Met)	6392	SDHD	Uncertain significance	1566692534	RCV002534466;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111958675	111958675	11:g.111958675A>G	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)	6392	SDHD	Uncertain significance	779249550	RCV000986020\|RCV002230662\|RCV002481486;	N	MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MOND	11	111958676	111958676	11:g.111958676C>T	ClinGen:CA070688	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.149A>G (p.His50Arg)	6392	SDHD	Benign/Likely benign	11214077	RCV000007318\|RCV000023207\|RCV000034696\|RCV000129149\|RCV000122007\|RCV000238643\|RCV000988743\|RCV002228009;	N	MONDO:MONDO:0021533,MedGen:C0349535,OMIM:114900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MON	11	111958677	111958677	11:g.111958677A>G	ClinGen:CA016777,UniProtKB:O14521#VAR_017871,OMIM:602690.0019	C0349535 114900 Carcinoid tumor of intestine;
NM_003002.4(SDHD):c.150C>G (p.His50Gln)	6392	SDHD	Uncertain significance	-1	RCV002802098;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958678	111958678	NC_000011.9:g.111958678C>G	-
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)	6392	SDHD	Pathogenic	587782210	RCV000130886\|RCV002514740;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111958683	111958683	11:g.111958683C>A	ClinGen:CA016773	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.155C>T (p.Ser52Leu)	6392	SDHD	Uncertain significance	587782210	RCV001904371;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958683	111958683	111958683	-
NM_003002.4(SDHD):c.156_158del (p.Pro53del)	6392	SDHD	Uncertain significance	-1	RCV002726849;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958683	111958685	NC_000011.9:g.111958684_111958686del	-
NM_003002.4(SDHD):c.157C>G (p.Pro53Ala)	6392	SDHD	Uncertain significance	1865656629	RCV002242124\|RCV002402905;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111958685	111958685	111958685	-
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu)	6392	SDHD	Uncertain significance	149516118	RCV000148873\|RCV000562737\|RCV000759346\|RCV002228536;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phen	11	111958686	111958686	11:g.111958686C>T	ClinGen:CA016765	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.159G>A (p.Pro53=)	6392	SDHD	Likely benign	201368675	RCV002529997;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958687	111958687	11:g.111958687G>A	ClinGen:CA070703	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.160A>C (p.Ser54Arg)	6392	SDHD	Uncertain significance	2135267524	RCV001961613;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111958688	111958688	111958688	-
NM_003002.4(SDHD):c.164A>T (p.His55Leu)	6392	SDHD	Uncertain significance	1865656869	RCV002393510\|RCV002241232;	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:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen	11	111958692	111958692	11:g.111958692A>T	-
NM_003002.4(SDHD):c.164A>G (p.His55Arg)	6392	SDHD	Uncertain significance	-1	RCV002297150;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111958692	111958692	111958692	-
NM_003002.4(SDHD):c.165C>T (p.His55=)	6392	SDHD	Likely benign	1592779061	RCV002235954;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111958693	111958693	11:g.111958693C>T	-
NM_003002.4(SDHD):c.167A>C (p.His56Pro)	6392	SDHD	Uncertain significance	1555186817	RCV002526122\|RCV003343905;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D	11	111958695	111958695	11:g.111958695A>C	ClinGen:CA382617130	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.167A>G (p.His56Arg)	6392	SDHD	Uncertain significance	1555186817	RCV001893820;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111958695	111958695	111958695	-
NM_003002.4(SDHD):c.168T>A (p.His56Gln)	6392	SDHD	Uncertain significance	1865657093	RCV002241432;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958696	111958696	11:g.111958696T>A	-
NM_003002.4(SDHD):c.169+1G>T	6392	SDHD	Pathogenic	2135267557	RCV001994720;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111958698	111958698	111958698	-
NM_003002.4(SDHD):c.169+1G>A	6392	SDHD	Pathogenic	2135267557	RCV001958656;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111958698	111958698	111958698	-
NM_003002.4(SDHD):c.169+3A>G	6392	SDHD	Uncertain significance	1865657168	RCV002239331\|RCV002400247;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D	11	111958700	111958700	11:g.111958700A>G	-
NM_003002.4(SDHD):c.169+5G>C	6392	SDHD	Uncertain significance	1865657237	RCV002241352;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111958702	111958702	11:g.111958702G>C	-
NM_003002.4(SDHD):c.169+8C>T	6392	SDHD	Likely benign	1592779083	RCV002235740;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111958705	111958705	11:g.111958705C>T	-
NM_003002.4(SDHD):c.169+16C>T	6392	SDHD	Likely benign	-1	RCV003083579;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111958713	111958713	NC_000011.9:g.111958713C>T	-
NM_003002.4(SDHD):c.170-29A>G	6392	SDHD	Benign/Likely benign	9919624	RCV001672822\|RCV001807282\|RCV001807281\|RCV001807283\|RCV002268135\|RCV003316658;	N	MedGen:C3661900\|MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167\|MedGen:CN169374\|MONDO:MONDO	11	111959562	111959562	11:g.111959562A>G	ClinGen:CA070772	CN169374 not specified;
NM_003002.4(SDHD):c.170-20G>A	6392	SDHD	Likely benign	2135269091	RCV002185181;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959571	111959571	111959571	-
NM_003002.4(SDHD):c.170-20G>T	6392	SDHD	Likely benign	2135269091	RCV002082844;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959571	111959571	111959571	-
NM_003002.4(SDHD):c.170-18del	6392	SDHD	Likely benign	766754598	RCV002124005;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959572	111959572	111959571	-
NM_003002.4(SDHD):c.170-19A>G	6392	SDHD	Likely benign	1296685617	RCV002138647;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959572	111959572	111959572	-
NM_003002.4(SDHD):c.170-18A>C	6392	SDHD	Likely benign	1402144794	RCV002205071;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959573	111959573	111959573	-
NM_003002.4(SDHD):c.170-14G>C	6392	SDHD	Likely benign	919536825	RCV002075696;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959577	111959577	111959577	-
NM_003002.4(SDHD):c.170-13G>A	6392	SDHD	Likely benign	1447202823	RCV002196908;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959578	111959578	111959578	-
NM_003002.4(SDHD):c.170-12T>C	6392	SDHD	Likely benign	764191089	RCV002108080;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959579	111959579	111959579	-
NM_003002.4(SDHD):c.170-11C>T	6392	SDHD	Likely benign	2135269102	RCV002212606;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959580	111959580	111959580	-
NM_003002.4(SDHD):c.170-10C>T	6392	SDHD	Likely benign	952278127	RCV002533256;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959581	111959581	11:g.111959581C>T	ClinGen:CA228551607	C3554516 Cowden syndrome 3;
NC_000011.10:g.(?_112088857)_(112094980_?)del	6392	SDHD	Pathogenic	-1	RCV000707760;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; 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:0014045,MedGen:C	11	111959581	111965704		-	C3554516 Cowden syndrome 3;
NC_000011.9:g.(?_111959581)_(111965694_?)del	6392	SDHD	Pathogenic	-1	RCV001972806;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959581	111965694	-1	-
NM_003002.4(SDHD):c.170-10C>A	6392	SDHD	Likely benign	-1	RCV003063077;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959581	111959581	NC_000011.9:g.111959581C>A	-
NM_003002.4(SDHD):c.170-9T>C	6392	SDHD	Likely benign	1592780269	RCV002235751;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111959582	111959582	11:g.111959582T>C	-
NM_003002.4(SDHD):c.170-8T>A	6392	SDHD	Likely benign	2135269114	RCV002236147;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111959583	111959583	111959583	-
NM_003002.4(SDHD):c.170-6T>G	6392	SDHD	Uncertain significance	753703004	RCV002242293;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959585	111959585	111959585	-
NM_003002.4(SDHD):c.170-6T>C	6392	SDHD	Likely benign	753703004	RCV002240710;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959585	111959585	111959585	-
NM_003002.4(SDHD):c.170-5T>A	6392	SDHD	Uncertain significance	1218549926	RCV001884609\|RCV002407014;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111959586	111959586	111959586	-
NM_003002.4(SDHD):c.170C>T (p.Ser57Phe)	6392	SDHD	Uncertain significance	2135269128	RCV001895188;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959591	111959591	111959591	-
NM_003002.4(SDHD):c.170C>G (p.Ser57Cys)	6392	SDHD	Uncertain significance	-1	RCV002296249\|RCV002400428;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111959591	111959591	111959591	-
NM_003002.4(SDHD):c.171T>C (p.Ser57=)	6392	SDHD	Likely benign	2135269133	RCV002240881;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959592	111959592	111959592	-
NM_003002.4(SDHD):c.173del (p.Gly58fs)	6392	SDHD	Pathogenic	878854590	RCV000233424\|RCV002229659\|RCV003343720;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C	11	111959593	111959593	11:g.111959593_111959593del	ClinGen:CA10582869	C1847319 606864 Paraganglioma and gastric stromal sarcoma;
NM_003002.4(SDHD):c.172G>A (p.Gly58Ser)	6392	SDHD	Uncertain significance	1865684789	RCV002240519;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959593	111959593	11:g.111959593G>A	-
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)	6392	SDHD	Uncertain significance	1592780294	RCV001013008\|RCV001246213\|RCV001860730\|RCV002489518;	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:0016063,MedGen:C0018553,OMIM:PS158350, Orphanet:201; MONDO:MONDO:0008192,MedGen	11	111959596	111959596	11:g.111959596T>C	-
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe)	6392	SDHD	Uncertain significance	1592780300	RCV001013090\|RCV002536930;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111959597	111959597	11:g.111959597C>T	-
NM_003002.4(SDHD):c.177C>T (p.Ser59=)	6392	SDHD	Likely benign	764869982	RCV002186443\|RCV002400388;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111959598	111959598	111959598	-
NM_003002.4(SDHD):c.180G>T (p.Lys60Asn)	6392	SDHD	Uncertain significance	750688879	RCV000213701\|RCV002229214;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|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:0014045,MedGen	11	111959601	111959601	11:g.111959601G>T	ClinGen:CA070805	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.180G>A (p.Lys60=)	6392	SDHD	Conflicting interpretations of pathogenicity	750688879	RCV002241923\|RCV002411997;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111959601	111959601	111959601	-
NM_003002.4(SDHD):c.182C>T (p.Ala61Val)	6392	SDHD	Uncertain significance	-1	RCV002828539;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959603	111959603	NC_000011.9:g.111959603C>T	-
NM_003002.4(SDHD):c.183T>C (p.Ala61=)	6392	SDHD	Likely benign	2135269188	RCV002236151\|RCV002414020;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111959604	111959604	111959604	-
NM_003002.4(SDHD):c.186A>T (p.Ala62=)	6392	SDHD	Likely benign	11547899	RCV002242984;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111959607	111959607	111959607	-
NM_003002.4(SDHD):c.192C>G (p.Leu64=)	6392	SDHD	Likely benign	1592780337	RCV002235668;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959613	111959613	11:g.111959613C>G	-
NM_003002.4(SDHD):c.192C>A (p.Leu64=)	6392	SDHD	Likely benign	-1	RCV002932333;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959613	111959613		-
NM_003002.4(SDHD):c.194A>G (p.His65Arg)	6392	SDHD	Uncertain significance	780226013	RCV001013788\|RCV001284062\|RCV002526123;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MO	11	111959615	111959615	11:g.111959615A>G	ClinGen:CA070827	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.195C>T (p.His65=)	6392	SDHD	Likely benign	11547893	RCV002117193;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959616	111959616	111959616	-
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)	6392	SDHD	Likely pathogenic	-1	RCV003405196;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959618	111959619		-
NM_003002.4(SDHD):c.199A>G (p.Thr67Ala)	6392	SDHD	Uncertain significance	2135269250	RCV001917685;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959620	111959620	111959620	-
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn)	6392	SDHD	Uncertain significance	1592780362	RCV002536951;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959621	111959621	11:g.111959621C>A	-
NM_003002.4(SDHD):c.201T>C (p.Thr67=)	6392	SDHD	Likely benign	2135269268	RCV002241026;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959622	111959622	111959622	-
NM_003002.4(SDHD):c.204_205del (p.Ser68fs)	6392	SDHD	Pathogenic	1865686266	RCV002241201;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959624	111959625	11:g.111959624_111959625del	-
NM_003002.4(SDHD):c.204C>T (p.Ser68=)	6392	SDHD	Benign/Likely benign	9919552	RCV000037727\|RCV000162450\|RCV000265027\|RCV000587940\|RCV001807015\|RCV001807014\|RCV002228123\|RCV003315556;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167\|MONDO:MON	11	111959625	111959625	11:g.111959625C>T	ClinGen:CA016677	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.204C>A (p.Ser68Arg)	6392	SDHD	Uncertain significance	-1	RCV002726636;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959625	111959625	NC_000011.9:g.111959625C>A	-
NM_003002.4(SDHD):c.207G>A (p.Glu69=)	6392	SDHD	Likely benign	1592780392	RCV002235869;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959628	111959628	11:g.111959628G>A	-
NM_003002.4(SDHD):c.211G>A (p.Val71Ile)	6392	SDHD	Uncertain significance	1428042303	RCV002233178;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959632	111959632	11:g.111959632G>A	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.211G>T (p.Val71Phe)	6392	SDHD	Uncertain significance	1428042303	RCV002242430\|RCV003355421;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111959632	111959632	111959632	-
NM_003002.4(SDHD):c.216C>G (p.Val72=)	6392	SDHD	Likely benign	1592780438	RCV002235866;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959637	111959637	11:g.111959637C>G	-
NM_003002.4(SDHD):c.216C>T (p.Val72=)	6392	SDHD	Likely benign	-1	RCV002432711\|RCV003101103;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111959637	111959637		-
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly)	6392	SDHD	Uncertain significance	748545223	RCV001800690\|RCV002230194\|RCV002429558;	N	MedGen:CN169374\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MOND	11	111959638	111959638	NC_000011.9:g.111959638A>G	ClinGen:CA070865	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.219T>C (p.Ser73=)	6392	SDHD	Likely benign	2135269373	RCV002243111;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111959640	111959640	111959640	-
NM_003002.4(SDHD):c.224del (p.Leu75fs)	6392	SDHD	Pathogenic	2135269378	RCV001953697;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959642	111959642	111959641	-
NM_003002.4(SDHD):c.223T>C (p.Leu75=)	6392	SDHD	Likely benign	2135269384	RCV002139716;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959644	111959644	111959644	-
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser)	6392	SDHD	Uncertain significance	1060503777	RCV002230841\|RCV003476145;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0030937,MedGen	11	111959645	111959645	NC_000011.9:g.111959645T>C	ClinGen:CA16613467	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.225G>C (p.Leu75Phe)	6392	SDHD	Uncertain significance	1865687714	RCV002241347;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959646	111959646	11:g.111959646G>C	-
NM_003002.4(SDHD):c.226C>T (p.Leu76Phe)	6392	SDHD	Uncertain significance	1865687801	RCV002242128\|RCV003284194;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111959647	111959647	111959647	-
NM_003002.4(SDHD):c.227T>C (p.Leu76Pro)	6392	SDHD	Uncertain significance	1865687896	RCV002239327;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959648	111959648	11:g.111959648T>C	-
NM_003002.4(SDHD):c.228C>T (p.Leu76=)	6392	SDHD	Conflicting interpretations of pathogenicity	148634289	RCV000563638\|RCV001106324\|RCV002231787;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,Me	11	111959649	111959649	11:g.111959649C>T	ClinGen:CA070883	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.230T>C (p.Leu77Pro)	6392	SDHD	Uncertain significance	777963699	RCV002047366;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959651	111959651	111959651	-
NM_003002.4(SDHD):c.231G>A (p.Leu77=)	6392	SDHD	Uncertain significance	1187106228	RCV002241794;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959652	111959652	11:g.111959652G>A	-
NM_003002.4(SDHD):c.231G>C (p.Leu77=)	6392	SDHD	Likely benign	1187106228	RCV002240695\|RCV002456854;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111959652	111959652	111959652	-
NM_003002.4(SDHD):c.232G>A (p.Gly78Ser)	6392	SDHD	Uncertain significance	-1	RCV002303543;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959653	111959653	111959653	-
NM_003002.4(SDHD):c.233G>T (p.Gly78Val)	6392	SDHD	Uncertain significance	1865688426	RCV002237125;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959654	111959654	11:g.111959654G>T	-
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe)	6392	SDHD	Uncertain significance	1592780488	RCV002537505;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959659	111959659	11:g.111959659C>T	-
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)	6392	SDHD	Pathogenic	1555187010	RCV000505381\|RCV001857228;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|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:0014045,MedGen:CN166604,Orph	11	111959660	111959660	NC_000011.9:g.111959660T>G	ClinGen:CA382617293	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003002.4(SDHD):c.242del (p.Pro81fs)	6392	SDHD	Pathogenic	878854591	RCV000228216\|RCV002229347\|RCV002258843;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C	11	111959662	111959662	NC_000011.9:g.111959663del	ClinGen:CA10582870	C1847319 606864 Paraganglioma and gastric stromal sarcoma;
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	6392	SDHD	Pathogenic/Likely pathogenic	80338844	RCV000007303\|RCV000007304\|RCV000020519\|RCV000023206\|RCV000162448\|RCV000216073\|RCV000763227\|RCV002221470\|RCV002228002\|RCV003472995;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:C3276074\|MONDO:MONDO:0015356,MeSH	11	111959663	111959663	11:g.111959663C>T	ClinGen:CA016688,UniProtKB:O14521#VAR_010038,OMIM:602690.0003	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.243G>C (p.Pro81=)	6392	SDHD	Likely benign	575262156	RCV000567673\|RCV002232450;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MOND	11	111959664	111959664	NC_000011.9:g.111959664G>C	ClinGen:CA228551713	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.243G>A (p.Pro81=)	6392	SDHD	Conflicting interpretations of pathogenicity	575262156	RCV000986021\|RCV001015544\|RCV002235584;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C18	11	111959664	111959664	11:g.111959664G>A	-
NM_003002.4(SDHD):c.244G>C (p.Ala82Pro)	6392	SDHD	Uncertain significance	745559875	RCV001526811\|RCV001797101\|RCV002232277\|RCV002448694;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,Me	11	111959665	111959665	NC_000011.9:g.111959665G>C	ClinGen:CA070914	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.244G>T (p.Ala82Ser)	6392	SDHD	Uncertain significance	745559875	RCV002242316;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959665	111959665	111959665	-
NM_003002.4(SDHD):c.246T>C (p.Ala82=)	6392	SDHD	Likely benign	2135269508	RCV002188367;	N	MedGen:C1868633; 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:0014045,MedGen:CN166604, Orphanet:201	11	111959667	111959667	111959667	-
NM_003002.4(SDHD):c.247G>A (p.Ala83Thr)	6392	SDHD	Uncertain significance	-1	RCV003048286;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959668	111959668	NC_000011.9:g.111959668G>A	-
NM_003002.4(SDHD):c.248C>T (p.Ala83Val)	6392	SDHD	Uncertain significance	370165653	RCV000230969\|RCV001854833;	N	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:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; MONDO:MONDO:0014045,MedGen:C	11	111959669	111959669	NC_000011.9:g.111959669C>T	ClinGen:CA070931	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.251A>C (p.Tyr84Ser)	6392	SDHD	Uncertain significance	-1	RCV003054551;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959672	111959672	NC_000011.9:g.111959672A>C	-
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)	6392	SDHD	Conflicting interpretations of pathogenicity	199517389	RCV000122010\|RCV000568887\|RCV002515893;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:	11	111959676	111959676	11:g.111959676G>T	ClinGen:CA016696	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.259C>T (p.Pro87Ser)	6392	SDHD	Uncertain significance	1279566824	RCV002241263;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959680	111959680	11:g.111959680C>T	-
NM_003002.4(SDHD):c.263G>T (p.Cys88Phe)	6392	SDHD	Uncertain significance	1592780559	RCV002535895;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959684	111959684	11:g.111959684G>T	-
NM_003002.4(SDHD):c.264C>T (p.Cys88=)	6392	SDHD	Likely benign	761615413	RCV002243115\|RCV002432136;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111959685	111959685	111959685	-
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)	6392	SDHD	Pathogenic	-1	RCV002994598;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959685	111959685	NC_000011.9:g.111959685C>A	-
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu)	6392	SDHD	Uncertain significance	1555187033	RCV000563970\|RCV002231788\|RCV003476276;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedG	11	111959689	111959690	NC_000011.9:g.111959689_111959690delinsTT	ClinGen:CA658658104	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.268G>A (p.Ala90Thr)	6392	SDHD	Uncertain significance	765102002	RCV002537467;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959689	111959689	11:g.111959689G>A	-
NM_003002.4(SDHD):c.270G>A (p.Ala90=)	6392	SDHD	Likely benign	766656463	RCV001016248\|RCV002230892;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111959691	111959691	NC_000011.9:g.111959691G>A	ClinGen:CA070979	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.270G>C (p.Ala90=)	6392	SDHD	Conflicting interpretations of pathogenicity	766656463	RCV002231076\|RCV002431384;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111959691	111959691	NC_000011.9:g.111959691G>C	ClinGen:CA070986	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.270G>T (p.Ala90=)	6392	SDHD	Likely benign	766656463	RCV002087673;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959691	111959691	111959691	-
NM_003002.4(SDHD):c.271A>T (p.Met91Leu)	6392	SDHD	Uncertain significance	2135269615	RCV002010654\|RCV003348740;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; 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:0015356,MeSH:D	11	111959692	111959692	111959692	-
NM_003002.4(SDHD):c.272T>A (p.Met91Lys)	6392	SDHD	Uncertain significance	1592780595	RCV002537115;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959693	111959693	11:g.111959693T>A	-
NM_003002.4(SDHD):c.272T>C (p.Met91Thr)	6392	SDHD	Uncertain significance	-1	RCV002740318;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959693	111959693	NC_000011.9:g.111959693T>C	-
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)	6392	SDHD	Pathogenic/Likely pathogenic	80338845	RCV000007305\|RCV000007306\|RCV000020520\|RCV000567104\|RCV001701480\|RCV002288471\|RCV002512869;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, 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:0015356,MeSH:D009386,MedGen:	11	111959695	111959695	NC_000011.9:g.111959695G>T	ClinGen:CA016702,UniProtKB:O14521#VAR_010039,OMIM:602690.0004	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)	6392	SDHD	Likely pathogenic	786205436	RCV000479419\|RCV000569878\|RCV002525847;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:	11	111959696	111959696	11:g.111959696A>T	ClinGen:CA16619272	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.276C>T (p.Asp92=)	6392	SDHD	Likely benign	2135269643	RCV002236320;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111959697	111959697	111959697	-
NM_003002.4(SDHD):c.277T>C (p.Tyr93His)	6392	SDHD	Uncertain significance	1592780620	RCV002537237;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959698	111959698	11:g.111959698T>C	-
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe)	6392	SDHD	Uncertain significance	199754684	RCV001016680\|RCV001800891\|RCV001811494\|RCV002534819\|RCV003472385;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:	11	111959702	111959702	11:g.111959702C>T	-
NM_003002.4(SDHD):c.281_282insAATA (p.Leu95fs)	6392	SDHD	Pathogenic	2135269697	RCV001874725;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111959702	111959703	111959702	-
NM_003002.4(SDHD):c.283del (p.Leu95fs)	6392	SDHD	Pathogenic	2135269692	RCV001935311;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959702	111959702	111959701	-
NM_003002.4(SDHD):c.282C>G (p.Ser94=)	6392	SDHD	Likely benign	781182616	RCV000163830\|RCV000641053\|RCV002228696;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:	11	111959703	111959703	11:g.111959703C>G	ClinGen:CA016642	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.283C>T (p.Leu95=)	6392	SDHD	Likely benign	1865691704	RCV002241017\|RCV003298891;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111959704	111959704	111959704	-
NM_003002.4(SDHD):c.283C>G (p.Leu95Val)	6392	SDHD	Uncertain significance	1865691704	RCV001881794;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959704	111959704	111959704	-
NM_003002.4(SDHD):c.288_290del (p.Ala98del)	6392	SDHD	Uncertain significance	1566694825	RCV002533749;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959707	111959709	NC_000011.9:g.111959709_111959711del	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.286G>A (p.Ala96Thr)	6392	SDHD	Uncertain significance	1265437700	RCV001993913;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959707	111959707	111959707	-
NM_003002.4(SDHD):c.288T>C (p.Ala96=)	6392	SDHD	Likely benign	2135269735	RCV002236134;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111959709	111959709	111959709	-
NM_003002.4(SDHD):c.288del (p.Ala97fs)	6392	SDHD	Pathogenic	2135269740	RCV001948334;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959709	111959709	111959708	-
NM_003002.4(SDHD):c.290C>T (p.Ala97Val)	6392	SDHD	Uncertain significance	756533450	RCV002233496\|RCV002440284;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111959711	111959711	NC_000011.9:g.111959711C>T	ClinGen:CA071022	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.292G>C (p.Ala98Pro)	6392	SDHD	Uncertain significance	1865692235	RCV002242149;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959713	111959713	111959713	-
NM_003002.4(SDHD):c.292G>T (p.Ala98Ser)	6392	SDHD	Uncertain significance	1865692235	RCV002021032;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959713	111959713	111959713	-
NM_003002.4(SDHD):c.295C>G (p.Leu99Val)	6392	SDHD	Uncertain significance	1865692425	RCV002240939;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959716	111959716	11:g.111959716C>G	-
NM_003002.4(SDHD):c.297C>T (p.Leu99=)	6392	SDHD	Likely benign	749657880	RCV002230893;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959718	111959718	NC_000011.9:g.111959718C>T	ClinGen:CA071034	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.298A>G (p.Thr100Ala)	6392	SDHD	Uncertain significance	1555187065	RCV000563302\|RCV002526917;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MOND	11	111959719	111959719	NC_000011.9:g.111959719A>G	ClinGen:CA382617402	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.299C>T (p.Thr100Ile)	6392	SDHD	Uncertain significance	557454864	RCV002030848;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959720	111959720	111959720	-
NM_003002.4(SDHD):c.301C>G (p.Leu101Val)	6392	SDHD	Uncertain significance	1165258369	RCV002242492;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111959722	111959722	111959722	-
NM_003002.4(SDHD):c.301C>T (p.Leu101Phe)	6392	SDHD	Uncertain significance	1165258369	RCV001886002\|RCV003355601;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111959722	111959722	111959722	-
NM_003002.4(SDHD):c.302T>A (p.Leu101His)	6392	SDHD	Uncertain significance	2135269810	RCV001932089;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111959723	111959723	111959723	-
NM_003002.4(SDHD):c.303T>G (p.Leu101=)	6392	SDHD	Likely benign	-1	RCV002885826;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959724	111959724		-
NM_003002.4(SDHD):c.304C>A (p.His102Asn)	6392	SDHD	Pathogenic/Likely pathogenic	786202403	RCV000165195\|RCV002228740;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MOND	11	111959725	111959725	11:g.111959725C>A	ClinGen:CA016659	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)	6392	SDHD	Pathogenic/Likely pathogenic	786202403	RCV002240202\|RCV002445259;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111959725	111959725	11:g.111959725C>T	-
NM_003002.4(SDHD):c.305A>G (p.His102Arg)	6392	SDHD	Pathogenic/Likely pathogenic	104894302	RCV001018360\|RCV002538159;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MOND	11	111959726	111959726	11:g.111959726A>G	-
NM_003002.4(SDHD):c.305A>C (p.His102Pro)	6392	SDHD	Likely pathogenic	104894302	RCV002241296;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959726	111959726	11:g.111959726A>C	-
NM_003002.4(SDHD):c.307G>C (p.Gly103Arg)	6392	SDHD	Uncertain significance	-1	RCV003030531;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959728	111959728	NC_000011.9:g.111959728G>C	-
NM_003002.4(SDHD):c.310C>G (p.His104Asp)	6392	SDHD	Uncertain significance	779863605	RCV001991695\|RCV002324463;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111959731	111959731	111959731	-
NM_003002.4(SDHD):c.312C>T (p.His104=)	6392	SDHD	Benign/Likely benign	61734352	RCV000192473\|RCV000303724\|RCV000561501\|RCV000586378\|RCV002229021\|RCV002485291\|RCV003316088;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:	11	111959733	111959733	NC_000011.9:g.111959733C>T	ClinGen:CA071059	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)	6392	SDHD	Pathogenic	1131691065	RCV000492092\|RCV002291278\|RCV002527068;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGe	11	111959735	111959735	NC_000011.9:g.111959735G>A	ClinGen:CA382617436	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.314+2C>T	6392	SDHD	Uncertain significance	1340664447	RCV001900693;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959737	111959737	111959737	-
NM_003002.4(SDHD):c.314+3A>C	6392	SDHD	Conflicting interpretations of pathogenicity	1555187084	RCV000566193\|RCV002526918;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MOND	11	111959738	111959738	NC_000011.9:g.111959738A>C	ClinGen:CA658658106	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.314+4A>G	6392	SDHD	Uncertain significance	1592780789	RCV002235373;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959739	111959739	11:g.111959739A>G	-
NM_003002.4(SDHD):c.314+5G>A	6392	SDHD	Uncertain significance	1566695035	RCV001775957\|RCV002544813;	N	MedGen:C3661900\|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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959740	111959740	11:g.111959740G>A	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.314+6T>C	6392	SDHD	Uncertain significance	1555187085	RCV002233053;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959741	111959741	NC_000011.9:g.111959741T>C	ClinGen:CA658797781	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.314+7A>T	6392	SDHD	Likely benign	2135269897	RCV002243090;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111959742	111959742	111959742	-
NM_003002.4(SDHD):c.314+8T>C	6392	SDHD	Likely benign	199645781	RCV000760069\|RCV002231077;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959743	111959743	NC_000011.9:g.111959743T>C	ClinGen:CA071091	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.314+8T>G	6392	SDHD	Likely benign	199645781	RCV002243028;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111959743	111959743	111959743	-
NM_003002.4(SDHD):c.314+12A>G	6392	SDHD	Likely benign	201163618	RCV002213428;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959747	111959747	111959747	-
NM_003002.4(SDHD):c.314+15T>A	6392	SDHD	Likely benign	-1	RCV003018757;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111959750	111959750	NC_000011.9:g.111959750T>A	-
NM_003002.4(SDHD):c.314+17C>T	6392	SDHD	Likely benign	-1	RCV003053309;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111959752	111959752	NC_000011.9:g.111959752C>T	-
NM_003002.4(SDHD):c.314+20del	6392	SDHD	Likely benign	755475561	RCV000250681\|RCV002058132;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111959753	111959753	NC_000011.9:g.111959755del	ClinGen:CA071077	CN169374 not specified;
NM_003002.4(SDHD):c.315-32T>C	6392	SDHD	Benign/Likely benign	4151637	RCV001709661\|RCV001807285\|RCV001807284\|RCV001807286\|RCV002231190\|RCV002268136\|RCV003316659;	N	MedGen:C3661900\|MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0030937,MedGen:C5436934,OMIM:619167\|MedGen:C1868633; MONDO:MONDO	11	111965497	111965497	11:g.111965497T>C	ClinGen:CA071210	CN169374 not specified;
NM_003002.4(SDHD):c.315-13dup	6392	SDHD	Benign	2135277277	RCV002136750;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965510	111965511	111965510	-
NM_003002.4(SDHD):c.315-18T>A	6392	SDHD	Likely benign	1260988180	RCV002150079;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965511	111965511	111965511	-
NM_003002.4(SDHD):c.315-18T>G	6392	SDHD	Likely benign	1260988180	RCV002117001;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111965511	111965511	111965511	-
NM_003002.4(SDHD):c.315-13del	6392	SDHD	Benign	2135277277	RCV002096578;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111965511	111965511	111965510	-
NM_003002.4(SDHD):c.315-16T>G	6392	SDHD	Likely benign	-1	RCV002872270;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965513	111965513	NC_000011.9:g.111965513T>G	-
NM_003002.4(SDHD):c.315-14T>C	6392	SDHD	Likely benign	1406470864	RCV002158380;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965515	111965515	111965515	-
NM_003002.4(SDHD):c.315-12C>A	6392	SDHD	Likely benign	-1	RCV002848373;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965517	111965517	NC_000011.9:g.111965517C>A	-
NC_000011.10:g.(?_112094795)_(112094980_?)del	6392	SDHD	Pathogenic	-1	RCV000708448;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; 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:0014045,MedGen:C	11	111965519	111965704		-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.315-9T>G	6392	SDHD	Likely benign	911853469	RCV002231789;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111965520	111965520	11:g.111965520T>G	ClinGen:CA228555568	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.315-8T>C	6392	SDHD	Likely benign	1592786101	RCV000828118\|RCV002235594;	N	MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965521	111965521	11:g.111965521T>C	-
NM_003002.4(SDHD):c.315-7_315-5delinsAAA	6392	SDHD	Uncertain significance	1060503775	RCV002525627;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965522	111965524	NC_000011.9:g.111965522_111965524delinsAAA	ClinGen:CA16613250	C3554516 Cowden syndrome 3;
NC_000011.10:g.(?_112094799)_(112094976_?)del	6392	SDHD	Pathogenic	-1	RCV000641057;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:6	11	111965523	111965700		-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.315-3del	6392	SDHD	Uncertain significance	1566702297	RCV002544823;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111965524	111965524	11:g.111965524_111965524del	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.315-4T>G	6392	SDHD	Likely benign	944726340	RCV002093415;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965525	111965525	111965525	-
NM_003002.4(SDHD):c.315-3T>C	6392	SDHD	Uncertain significance	1555187565	RCV002233494\|RCV003162885;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111965526	111965526	11:g.111965526T>C	ClinGen:CA658797782	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.315-2A>G	6392	SDHD	Uncertain significance	2135277333	RCV001998098;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965527	111965527	111965527	-
NM_003002.4(SDHD):c.315-2A>T	6392	SDHD	Conflicting interpretations of pathogenicity	-1	RCV002863222\|RCV003475442;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0030937,MedGen	11	111965527	111965527	NC_000011.9:g.111965527A>T	-
NM_003002.4(SDHD):c.315-1G>A	6392	SDHD	Likely pathogenic	1555187566	RCV000521177\|RCV002481730;	N	MedGen:CN517202\|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:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; MONDO:MONDO:	11	111965528	111965528	NC_000011.9:g.111965528G>A	ClinGen:CA382618712
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)	6392	SDHD	Pathogenic	1060503769	RCV000462080\|RCV002230838\|RCV002323759;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:C	11	111965529	111965529	NC_000011.9:g.111965529G>A	ClinGen:CA16613226	C1868633 168000 Paragangliomas 1;
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)	6392	SDHD	Pathogenic/Likely pathogenic	1555187574	RCV001913139\|RCV002324301;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D	11	111965531	111965531	111965531	-
NM_003002.4(SDHD):c.318C>A (p.Gly106=)	6392	SDHD	Likely benign	878854592	RCV002229348;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965532	111965532	NC_000011.9:g.111965532C>A	ClinGen:CA10582871	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.318C>T (p.Gly106=)	6392	SDHD	Likely benign	878854592	RCV002172720;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111965532	111965532	111965532	-
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe)	6392	SDHD	Uncertain significance	1209781530	RCV002232918\|RCV002325415;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111965533	111965533	NC_000011.9:g.111965533C>T	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)	6392	SDHD	Conflicting interpretations of pathogenicity	876658477	RCV000219575\|RCV000986022\|RCV001294091\|RCV002229212\|RCV002282052\|RCV003475006;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phen	11	111965534	111965534	11:g.111965534T>G	ClinGen:CA10579346	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.327A>G (p.Gln109=)	6392	SDHD	Likely benign	1566702383	RCV002534446;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111965541	111965541	NC_000011.9:g.111965541A>G	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.328G>A (p.Val110Ile)	6392	SDHD	Uncertain significance	1060503771	RCV002230659\|RCV002323760\|RCV003476140;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111965542	111965542	NC_000011.9:g.111965542G>A	ClinGen:CA16613228	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.328GTT[1] (p.Val111del)	6392	SDHD	Uncertain significance	1555187580	RCV000505351\|RCV001865641;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|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:0014045,MedGen:CN166604,Orph	11	111965542	111965544	11:g.111965542_111965544del	ClinGen:CA645509539	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_003002.4(SDHD):c.332T>C (p.Val111Ala)	6392	SDHD	Uncertain significance	1592786183	RCV001020005\|RCV002236217;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedG	11	111965546	111965546	11:g.111965546T>C	-
NM_003002.4(SDHD):c.334A>G (p.Thr112Ala)	6392	SDHD	Uncertain significance	1865809730	RCV002242415;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965548	111965548	111965548	-
NM_003002.4(SDHD):c.336dup (p.Asp113Ter)	6392	SDHD	Pathogenic	1555187583	RCV000660263\|RCV002530564;	N	MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:6	11	111965549	111965550	NC_000011.9:g.111965550dup	-	C1868633 168000 Paragangliomas 1;
NM_003002.4(SDHD):c.336T>C (p.Thr112=)	6392	SDHD	Likely benign	-1	RCV002659262;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965550	111965550		-
NM_003002.4(SDHD):c.337G>C (p.Asp113His)	6392	SDHD	Uncertain significance	-1	RCV002297781;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111965551	111965551	111965551	-
NM_003002.4(SDHD):c.338A>G (p.Asp113Gly)	6392	SDHD	Uncertain significance	786202513	RCV002041337;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111965552	111965552	111965552	-
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)	6392	SDHD	Likely pathogenic	876659276	RCV000856585\|RCV002536208;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:H	11	111965554	111965554	11:g.111965554T>C	-
NM_003002.4(SDHD):c.342T>C (p.Tyr114=)	6392	SDHD	Likely benign	1050032491	RCV001020290\|RCV002231790;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedG	11	111965556	111965556	NC_000011.9:g.111965556T>C	ClinGen:CA228555628	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.344T>C (p.Val115Ala)	6392	SDHD	Uncertain significance	1489012268	RCV002038109\|RCV003303568;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111965558	111965558	111965558	-
NM_003002.4(SDHD):c.346C>T (p.His116Tyr)	6392	SDHD	Uncertain significance	2135277443	RCV001992831\|RCV002334955;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111965560	111965560	111965560	-
NM_003002.4(SDHD):c.347A>T (p.His116Leu)	6392	SDHD	Uncertain significance	2135277447	RCV001943819;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111965561	111965561	111965561	-
NM_003002.4(SDHD):c.348T>C (p.His116=)	6392	SDHD	Likely benign	2135277453	RCV002153495;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111965562	111965562	111965562	-
NM_003002.4(SDHD):c.352del (p.Asp118fs)	6392	SDHD	Pathogenic	1131691064	RCV000492559\|RCV002231154;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111965563	111965563	NC_000011.9:g.111965566del	ClinGen:CA645369585	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.351G>T (p.Gly117=)	6392	SDHD	Uncertain significance	1566702512	RCV002547102\|RCV003389826;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633\|MedGen:C3661900	11	111965565	111965565	11:g.111965565G>T	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.352G>A (p.Asp118Asn)	6392	SDHD	Uncertain significance	1865810526	RCV002241733;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965566	111965566	111965566	-
NM_003002.4(SDHD):c.354T>G (p.Asp118Glu)	6392	SDHD	Uncertain significance	911663426	RCV001759763\|RCV002240169\|RCV002451174;	N	MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MOND	11	111965568	111965568	11:g.111965568T>G	-
NM_003002.4(SDHD):c.354T>C (p.Asp118=)	6392	SDHD	Likely benign	911663426	RCV002241038\|RCV002334551;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111965568	111965568	111965568	-
NM_003002.4(SDHD):c.355G>T (p.Ala119Ser)	6392	SDHD	Uncertain significance	930768406	RCV000573596\|RCV002232173;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MOND	11	111965569	111965569	NC_000011.9:g.111965569G>T	ClinGen:CA382618942	C0027672 Hereditary cancer-predisposing syndrome;
NM_003002.4(SDHD):c.356C>A (p.Ala119Asp)	6392	SDHD	Uncertain significance	758784300	RCV002533572;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111965570	111965570	11:g.111965570C>A	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.357C>T (p.Ala119=)	6392	SDHD	Likely benign	2135277494	RCV002242999;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111965571	111965571	111965571	-
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)	6392	SDHD	Pathogenic/Likely pathogenic	878854594	RCV002229350\|RCV002288922;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|Human Phenotype Ontology:H	11	111965575	111965575	11:g.111965575C>T	ClinGen:CA10582872	C1868633 168000 Paragangliomas 1;
NM_003002.4(SDHD):c.363G>A (p.Gln121=)	6392	SDHD	Likely benign	2135277509	RCV002072898;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965577	111965577	111965577	-
NM_003002.4(SDHD):c.366A>G (p.Lys122=)	6392	SDHD	Likely benign	780764151	RCV001020841\|RCV001565386\|RCV002236226;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MO	11	111965580	111965580	11:g.111965580A>G	-
NM_003002.4(SDHD):c.370G>A (p.Ala124Thr)	6392	SDHD	Uncertain significance	1865811145	RCV001974155;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965584	111965584	111965584	-
NM_003002.4(SDHD):c.371C>T (p.Ala124Val)	6392	SDHD	Uncertain significance	1865811210	RCV002241444\|RCV003294101;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111965585	111965585	11:g.111965585C>T	-
NM_003002.4(SDHD):c.372C>G (p.Ala124=)	6392	SDHD	Likely benign	2135277535	RCV002236022\|RCV002358959;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111965586	111965586	111965586	-
NM_003002.4(SDHD):c.374A>G (p.Lys125Arg)	6392	SDHD	Uncertain significance	1592786256	RCV002235395\|RCV002345889;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111965588	111965588	11:g.111965588A>G	-
NM_003002.4(SDHD):c.376G>A (p.Ala126Thr)	6392	SDHD	Uncertain significance	1592786265	RCV001021091\|RCV001861004;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111965590	111965590	11:g.111965590G>A	-
NM_003002.4(SDHD):c.377C>T (p.Ala126Val)	6392	SDHD	Uncertain significance	-1	RCV002726672;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965591	111965591	NC_000011.9:g.111965591C>T	-
NM_003002.4(SDHD):c.381G>T (p.Gly127=)	6392	SDHD	Conflicting interpretations of pathogenicity	-1	RCV003008997\|RCV003170827;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111965595	111965595		-
NM_003002.4(SDHD):c.383_386dup (p.Leu129fs)	6392	SDHD	Pathogenic	864321644	RCV002241158;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965596	111965597	11:g.111965596_111965597insTTTT	-
NM_003002.4(SDHD):c.386del (p.Leu129fs)	6392	SDHD	Likely pathogenic	864321644	RCV000203535;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965597	111965597	NC_000011.9:g.111965600del	ClinGen:CA279936	C0031511 171300 Pheochromocytoma;
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser)	6392	SDHD	Uncertain significance	201726097	RCV002544819\|RCV003472194\|RCV003163123;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633\|MONDO:MONDO:0030937,MedGen	11	111965600	111965600	11:g.111965600T>C	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.386T>G (p.Leu129Trp)	6392	SDHD	Uncertain significance	201726097	RCV002241709;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965600	111965600	111965600	-
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro)	6392	SDHD	Uncertain significance	1312671864	RCV002544721;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111965602	111965602	NC_000011.9:g.111965602G>C	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.388G>T (p.Ala130Ser)	6392	SDHD	Uncertain significance	1312671864	RCV002026438;	N	MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965602	111965602	111965602	-
NM_003002.4(SDHD):c.389C>G (p.Ala130Gly)	6392	SDHD	Uncertain significance	1049692537	RCV001021382\|RCV001861019;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111965603	111965603	11:g.111965603C>G	-
NM_003002.4(SDHD):c.390A>G (p.Ala130=)	6392	SDHD	Likely benign	-1	RCV003018186;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965604	111965604		-
NM_003002.4(SDHD):c.394del (p.Ser132fs)	6392	SDHD	Pathogenic/Likely pathogenic	1060503773	RCV000465313\|RCV001021499\|RCV002230840;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011740,MedGen	11	111965606	111965606	NC_000011.9:g.111965608del	ClinGen:CA16613229	C1868633 168000 Paragangliomas 1;
NM_003002.4(SDHD):c.393T>C (p.Leu131=)	6392	SDHD	Likely benign	-1	RCV003026011;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965607	111965607		-
NM_003002.4(SDHD):c.394T>G (p.Ser132Ala)	6392	SDHD	Uncertain significance	2135277611	RCV001968260\|RCV002370619;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; 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:0015356,MeSH:D	11	111965608	111965608	111965608	-
NM_003002.4(SDHD):c.396A>C (p.Ser132=)	6392	SDHD	Likely benign	2135277619	RCV002237171;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111965610	111965610	111965610	-
NM_003002.4(SDHD):c.397G>C (p.Ala133Pro)	6392	SDHD	Uncertain significance	1060503774	RCV001764454\|RCV002525626;	N	MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965611	111965611	NC_000011.9:g.111965611G>C	ClinGen:CA16613234	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.397G>A (p.Ala133Thr)	6392	SDHD	Uncertain significance	1060503774	RCV002525294;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111965611	111965611	11:g.111965611G>A	ClinGen:CA382619205	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.398C>A (p.Ala133Asp)	6392	SDHD	Uncertain significance	755584530	RCV002230660\|RCV002356711\|RCV003476142;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111965612	111965612	NC_000011.9:g.111965612C>A	ClinGen:CA071351	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.400T>G (p.Leu134Val)	6392	SDHD	Uncertain significance	200851392	RCV000034698\|RCV000573265\|RCV002228113\|RCV003473257;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:	11	111965614	111965614	11:g.111965614T>G	ClinGen:CA016714	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.404C>T (p.Thr135Ile)	6392	SDHD	Uncertain significance	2135277637	RCV001904546;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965618	111965618	111965618	-
NM_003002.4(SDHD):c.405C>A (p.Thr135=)	6392	SDHD	Likely benign	1555187606	RCV002528397;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111965619	111965619	11:g.111965619C>A	ClinGen:CA476790954	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.405C>T (p.Thr135=)	6392	SDHD	Likely benign	1555187606	RCV002236314;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111965619	111965619	111965619	-
NM_003002.4(SDHD):c.408T>A (p.Phe136Leu)	6392	SDHD	Uncertain significance	-1	RCV003071313;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111965622	111965622	NC_000011.9:g.111965622T>A	-
NM_003002.4(SDHD):c.409G>C (p.Ala137Pro)	6392	SDHD	Uncertain significance	1555187611	RCV002533255;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965623	111965623	NC_000011.9:g.111965623G>C	ClinGen:CA382619263	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.409G>A (p.Ala137Thr)	6392	SDHD	Uncertain significance	1555187611	RCV001944284;	N	MedGen:C1868633; 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:0014045,MedGen:CN166604, Orphanet:201	11	111965623	111965623	111965623	-
NM_003002.4(SDHD):c.410C>T (p.Ala137Val)	6392	SDHD	Uncertain significance	749250498	RCV001971617\|RCV002324432;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111965624	111965624	111965624	-
NM_003002.4(SDHD):c.411T>C (p.Ala137=)	6392	SDHD	Likely benign	1298909305	RCV002240901\|RCV002324102;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111965625	111965625	111965625	-
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)	6392	SDHD	Likely pathogenic	786203932	RCV000167450\|RCV000478572\|RCV002228995;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:	11	111965626	111965626	NC_000011.9:g.111965626G>A	ClinGen:CA017004
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)	6392	SDHD	Likely pathogenic	1401695686	RCV002526127;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286	11	111965627	111965627	11:g.111965627G>T	ClinGen:CA382619290	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)	6392	SDHD	Conflicting interpretations of pathogenicity	1401695686	RCV001990958\|RCV003348710;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111965627	111965627	111965627	-
NM_003002.4(SDHD):c.414G>A (p.Gly138=)	6392	SDHD	Likely benign	1174448545	RCV002237187\|RCV002329519;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111965628	111965628	111965628	-
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	6392	SDHD	Likely pathogenic	80338847	RCV002532294;	N	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:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111965630	111965630	11:g.111965630T>G	-	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.419G>A (p.Cys140Tyr)	6392	SDHD	Uncertain significance	2135277691	RCV002242642\|RCV002329384;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111965633	111965633	111965633	-
NM_003002.4(SDHD):c.422A>G (p.Tyr141Cys)	6392	SDHD	Uncertain significance	199772639	RCV002237131\|RCV002327255;	N	MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D	11	111965636	111965636	11:g.111965636A>G	-
NM_003002.4(SDHD):c.426C>G (p.Phe142Leu)	6392	SDHD	Uncertain significance	2135277712	RCV001992339\|RCV002331593;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111965640	111965640	111965640	-
NM_003002.4(SDHD):c.427A>G (p.Asn143Asp)	6392	SDHD	Uncertain significance	1865812863	RCV002242018;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965641	111965641	111965641	-
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser)	6392	SDHD	Uncertain significance	770909248	RCV000570463\|RCV002223876\|RCV002232449;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C18	11	111965642	111965642	NC_000011.9:g.111965642A>G	ClinGen:CA071378	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.430_435del (p.Tyr144_His145del)	6392	SDHD	Conflicting interpretations of pathogenicity	-1	RCV002331890\|RCV003094637;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MOND	11	111965642	111965647	111965641	-
NM_003002.4(SDHD):c.429C>T (p.Asn143=)	6392	SDHD	Likely benign	1036199125	RCV002243094;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633	11	111965643	111965643	111965643	-
NM_003002.4(SDHD):c.430T>C (p.Tyr144His)	6392	SDHD	Uncertain significance	774243340	RCV002242215\|RCV002329313\|RCV003473869;	N	MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D	11	111965644	111965644	111965644	-
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)	6392	SDHD	Uncertain significance	745732631	RCV001955852\|RCV002497833\|RCV003375481;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0011740,MedGen	11	111965645	111965645	111965645	-
NM_003002.4(SDHD):c.431A>T (p.Tyr144Phe)	6392	SDHD	Uncertain significance	745732631	RCV001967449;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111965645	111965645	111965645	-
NM_003002.4(SDHD):c.433C>T (p.His145Tyr)	6392	SDHD	Uncertain significance	-1	RCV002576552;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965647	111965647	NC_000011.9:g.111965647C>T	-
NM_003002.4(SDHD):c.435C>T (p.His145=)	6392	SDHD	Likely benign	200062830	RCV001022352\|RCV002232278\|RCV003326457;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedG	11	111965649	111965649	11:g.111965649C>T	ClinGen:CA071406	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn)	6392	SDHD	Uncertain significance	1592786384	RCV002537346;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965650	111965650	11:g.111965650G>A	-
NM_003002.4(SDHD):c.436G>T (p.Asp146Tyr)	6392	SDHD	Uncertain significance	1592786384	RCV002240516;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111965650	111965650	11:g.111965650G>T	-
NM_003002.4(SDHD):c.439G>A (p.Val147Met)	6392	SDHD	Uncertain significance	1865813583	RCV002240495;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111965653	111965653	11:g.111965653G>A	-
NM_003002.4(SDHD):c.445A>G (p.Ile149Val)	6392	SDHD	Uncertain significance	1865813813	RCV001106326\|RCV002240735\|RCV003160633;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphan	11	111965659	111965659	11:g.111965659A>G	-
NM_003002.4(SDHD):c.446T>G (p.Ile149Ser)	6392	SDHD	Uncertain significance	1295620545	RCV002241963;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965660	111965660	111965660	-
NM_003002.4(SDHD):c.449G>C (p.Cys150Ser)	6392	SDHD	Uncertain significance	-1	RCV002634571;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965663	111965663	NC_000011.9:g.111965663G>C	-
NM_003002.4(SDHD):c.450C>T (p.Cys150=)	6392	SDHD	Likely benign	201337439	RCV002140034\|RCV002337361;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201\|MONDO:MONDO:0015356,MeSH:D	11	111965664	111965664	111965664	-
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn)	6392	SDHD	Uncertain significance	761953172	RCV001753697\|RCV002229351\|RCV002338724;	N	MedGen:C3661900\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MOND	11	111965667	111965667	NC_000011.9:g.111965667A>C	ClinGen:CA071433	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.454G>A (p.Ala152Thr)	6392	SDHD	Uncertain significance	1865814160	RCV002241091;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MedGen:C1868633	11	111965668	111965668	11:g.111965668G>A	-
NM_003002.4(SDHD):c.455_463del (p.Ala152_Met155delinsVal)	6392	SDHD	Uncertain significance	1592786423	RCV000810137;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:6	11	111965669	111965677	11:g.111965669_111965677del	-
NM_003002.4(SDHD):c.458T>C (p.Val153Ala)	6392	SDHD	Uncertain significance	1555187644	RCV002232279\|RCV002341329;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D	11	111965672	111965672	11:g.111965672T>C	ClinGen:CA382619535	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.461C>T (p.Ala154Val)	6392	SDHD	Uncertain significance	-1	RCV002342507\|RCV003102609;	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:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen	11	111965675	111965675	111965675	-
NM_003002.4(SDHD):c.463A>G (p.Met155Val)	6392	SDHD	Uncertain significance	2135277828	RCV002016538;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965677	111965677	111965677	-
NM_003002.4(SDHD):c.466C>T (p.Leu156=)	6392	SDHD	Likely benign	2135277839	RCV002159074;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965680	111965680	111965680	-
NM_003002.4(SDHD):c.468G>A (p.Leu156=)	6392	SDHD	Likely benign	2135277845	RCV002236366\|RCV003346561;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111965682	111965682	111965682	-
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=)	6392	SDHD	Uncertain significance	878854596	RCV000226713;	N	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:0008192,MedGen:C3494181,OMIM:168000, Orphanet:29072; MONDO:MONDO:0014045,MedGen:C	11	111965686	111965687	NC_000011.9:g.111965687_111965697dup	ClinGen:CA10582874	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.474G>T (p.Lys158Asn)	6392	SDHD	Uncertain significance	1377208267	RCV001961786;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965688	111965688	111965688	-
NM_003002.4(SDHD):c.474_475delinsTT (p.Lys158_Leu159delinsAsnPhe)	6392	SDHD	Uncertain significance	-1	RCV002881330;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965688	111965689	NC_000011.9:g.111965688_111965689delinsTT	-
NM_003002.4(SDHD):c.476T>C (p.Leu159Pro)	6392	SDHD	Uncertain significance	2135277858	RCV002028869;	N	MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633	11	111965690	111965690	111965690	-
NM_003002.4(SDHD):c.478T>A (p.Ter160Arg)	6392	SDHD	Uncertain significance	1555187655	RCV002525295\|RCV003343906;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286\|MONDO:MONDO:0015356,MeSH:D	11	111965692	111965692	11:g.111965692T>A	ClinGen:CA382619604	C3554516 Cowden syndrome 3;
NM_003002.4(SDHD):c.479G>A (p.Ter160=)	6392	SDHD	Likely benign	201372601	RCV002235148\|RCV002332776;	N	MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633\|MONDO:MONDO:0015356,MeSH:D	11	111965693	111965693	11:g.111965693G>A	-
NM_003002.4(SDHD):c.480A>G (p.Ter160Trp)	6392	SDHD	Uncertain significance	587778663	RCV000122011\|RCV002228411;	N	MedGen:CN169374\|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MedGen:C1868633; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965694	111965694	11:g.111965694A>G	ClinGen:CA017062	CN169374 not specified;
NM_003002.4(SDHD):c.480A>T (p.Ter160Cys)	6392	SDHD	Uncertain significance	-1	RCV002881947;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MedGen:C1868633; MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864, Orphanet:97286; MONDO:MONDO:0014045,MedGen:CN166604, Orphanet:201	11	111965694	111965694	NC_000011.9:g.111965694A>T	-
NM_003002.4(SDHD):c.*186A>G	6392	SDHD	Likely benign	183918321	RCV000263895;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111965880	111965880	NC_000011.9:g.111965880A>G	ClinGen:CA10633462	C0031511 171300 Pheochromocytoma;
NM_003002.4(SDHD):c.*260T>A	6392	SDHD	Benign	149570245	RCV000151830\|RCV000316201\|RCV001668305;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	11	111965954	111965954	11:g.111965954T>A	ClinGen:CA016889	CN169374 not specified;
NM_003002.4(SDHD):c.*340A>G	6392	SDHD	Uncertain significance	201280702	RCV000276765;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111966034	111966034	NC_000011.9:g.111966034A>G	ClinGen:CA10637641	C0031511 171300 Pheochromocytoma;
NM_003002.4(SDHD):c.*352C>G	6392	SDHD	Likely benign	192900956	RCV000334164;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111966046	111966046	NC_000011.9:g.111966046C>G	ClinGen:CA10637647	C0031511 171300 Pheochromocytoma;
NM_003002.4(SDHD):c.*369A>G	6392	SDHD	Uncertain significance	200753024	RCV000386295;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111966063	111966063	NC_000011.9:g.111966063A>G	ClinGen:CA10637648	C0031511 171300 Pheochromocytoma;
NM_003002.4(SDHD):c.*532A>T	6392	SDHD	Benign	146261846	RCV000328131;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111966226	111966226	NC_000011.9:g.111966226A>T	ClinGen:CA10633463	C0031511 171300 Pheochromocytoma;
NM_003002.4(SDHD):c.*613T>C	6392	SDHD	Benign	693441	RCV000037725\|RCV000287625;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111966307	111966307	11:g.111966307T>C	ClinGen:CA017081	CN169374 not specified;
NM_003002.4(SDHD):c.*622A>G	6392	SDHD	Likely benign	142510105	RCV000344927;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111966316	111966316	NC_000011.9:g.111966316A>G	ClinGen:CA10637224	C0031511 171300 Pheochromocytoma;
NM_003002.4(SDHD):c.*803A>G	6392	SDHD	Benign	17113461	RCV000037726\|RCV000399051;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111966497	111966497	11:g.111966497A>G	ClinGen:CA017089	CN169374 not specified;
NM_003002.4(SDHD):c.*822T>C	6392	SDHD	Uncertain significance	201472512	RCV000156151\|RCV000356547;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	11	111966516	111966516	11:g.111966516T>C	ClinGen:CA017094	CN169374 not specified;
NM_017849.4(TMEM127):c.*3584G>C	55654	TMEM127	Benign	370166706	RCV001141008;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96915962	96915962	2:g.96915962C>G	-
NM_017849.4(TMEM127):c.*3569C>T	55654	TMEM127	Benign	140274612	RCV000405643;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96915977	96915977	NC_000002.11:g.96915977G>A	ClinGen:CA10616458	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*3568C>G	55654	TMEM127	Uncertain significance	886056427	RCV000312301;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96915978	96915978	NC_000002.11:g.96915978G>C	ClinGen:CA10616346	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*3560G>T	55654	TMEM127	Uncertain significance	886056428	RCV000348438;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96915986	96915986	NC_000002.11:g.96915986C>A	ClinGen:CA10614614	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*3396G>A	55654	TMEM127	Uncertain significance	762419401	RCV001141009;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916150	96916150	2:g.96916150C>T	-
NM_017849.4(TMEM127):c.*3391G>A	55654	TMEM127	Uncertain significance	1260000636	RCV001141010;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916155	96916155	2:g.96916155C>T	-
NM_017849.4(TMEM127):c.*3348G>C	55654	TMEM127	Uncertain significance	886056429	RCV000396218;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916198	96916198	NC_000002.11:g.96916198C>G	ClinGen:CA10616459	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*3271A>G	55654	TMEM127	Uncertain significance	569110562	RCV001141011;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916275	96916275	2:g.96916275T>C	-
NM_017849.4(TMEM127):c.*3209A>G	55654	TMEM127	Benign	186348610	RCV000308669;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916337	96916337	NC_000002.11:g.96916337T>C	ClinGen:CA10614619	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*3200GTT[2]	55654	TMEM127	Likely benign	141956691	RCV000363374;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916338	96916340	2:g.96916338_96916340del	ClinGen:CA10614620	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*3134C>T	55654	TMEM127	Uncertain significance	566067694	RCV000268768;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916412	96916412	2:g.96916412G>A	ClinGen:CA10616461	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*3049T>C	55654	TMEM127	Uncertain significance	1242736942	RCV001142852;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916497	96916497	2:g.96916497A>G	-
NM_017849.4(TMEM127):c.*3025G>C	55654	TMEM127	Uncertain significance	886056430	RCV000305134;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916521	96916521	2:g.96916521C>G	ClinGen:CA10616462	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2966C>G	55654	TMEM127	Benign	17119378	RCV000360278;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916580	96916580	2:g.96916580G>C	ClinGen:CA10614147	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2911C>T	55654	TMEM127	Uncertain significance	1461511429	RCV001142853;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916635	96916635	2:g.96916635G>A	-
NM_017849.4(TMEM127):c.*2888del	55654	TMEM127	Likely benign	139762991	RCV000265617;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916658	96916658	2:g.96916658_96916658del	ClinGen:CA10614148	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2875A>G	55654	TMEM127	Uncertain significance	915390483	RCV001142854;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916671	96916671	2:g.96916671T>C	-
NM_017849.4(TMEM127):c.*2860A>G	55654	TMEM127	Uncertain significance	1289173127	RCV001142855;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916686	96916686	2:g.96916686T>C	-
NM_017849.4(TMEM127):c.*2845T>G	55654	TMEM127	Benign	182729595	RCV000320768;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916701	96916701	2:g.96916701A>C	ClinGen:CA10616468	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2800T>G	55654	TMEM127	Uncertain significance	1037492575	RCV001138107;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916746	96916746	2:g.96916746A>C	-
NM_017849.4(TMEM127):c.*2760A>C	55654	TMEM127	Uncertain significance	886056431	RCV000375434;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916786	96916786	2:g.96916786T>G	ClinGen:CA10616350	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2719G>A	55654	TMEM127	Uncertain significance	140164805	RCV000262122;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916827	96916827	2:g.96916827C>T	ClinGen:CA10614154	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2717C>G	55654	TMEM127	Uncertain significance	886056432	RCV000317293;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916829	96916829	2:g.96916829G>C	ClinGen:CA10614621	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2684C>G	55654	TMEM127	Uncertain significance	1684078512	RCV001138108;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916862	96916862	2:g.96916862G>C	-
NM_017849.4(TMEM127):c.*2642C>T	55654	TMEM127	Uncertain significance	886056433	RCV000371896;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916904	96916904	2:g.96916904G>A	ClinGen:CA10614623	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2563G>A	55654	TMEM127	Uncertain significance	1483429634	RCV001138109;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916983	96916983	2:g.96916983C>T	-
NM_017849.4(TMEM127):c.*2548T>C	55654	TMEM127	Uncertain significance	886056434	RCV000296116;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96916998	96916998	2:g.96916998A>G	ClinGen:CA10616351	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2518C>A	55654	TMEM127	Uncertain significance	1181236784	RCV001138540;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917028	96917028	2:g.96917028G>T	-
NM_017849.4(TMEM127):c.*2503C>T	55654	TMEM127	Uncertain significance	886056435	RCV000350066;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917043	96917043	2:g.96917043G>A	ClinGen:CA10614624	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2498C>T	55654	TMEM127	Benign	191565203	RCV000385974;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917048	96917048	2:g.96917048G>A	ClinGen:CA10614156	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2445G>T	55654	TMEM127	Uncertain significance	886056436	RCV000291692;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917101	96917101	2:g.96917101C>A	ClinGen:CA10616469	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2411C>A	55654	TMEM127	Uncertain significance	1158489118	RCV001138541;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917135	96917135	2:g.96917135G>T	-
NM_017849.4(TMEM127):c.*2300G>A	55654	TMEM127	Benign	117655540	RCV000346571;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917246	96917246	2:g.96917246C>T	ClinGen:CA10614161	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2299C>T	55654	TMEM127	Uncertain significance	896902158	RCV001138542;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917247	96917247	2:g.96917247G>A	-
NM_017849.4(TMEM127):c.2291_2292del	55654	TMEM127	Conflicting interpretations of pathogenicity	566328757	RCV000406480\|RCV003422326;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	2	96917254	96917255	2:g.96917254_96917255del	ClinGen:CA10614163	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2270dup	55654	TMEM127	Uncertain significance	886056437	RCV000307014;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917275	96917276	2:g.96917275_96917276insA	ClinGen:CA10616471	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2245A>G	55654	TMEM127	Uncertain significance	886056438	RCV000343247;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917301	96917301	2:g.96917301T>C	ClinGen:CA10616474	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2171C>T	55654	TMEM127	Uncertain significance	555968113	RCV000396432;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917375	96917375	2:g.96917375G>A	ClinGen:CA10614625	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2128C>A	55654	TMEM127	Uncertain significance	533813582	RCV001141103;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917418	96917418	2:g.96917418G>T	-
NM_017849.4(TMEM127):c.*2121G>T	55654	TMEM127	Uncertain significance	778493549	RCV000302984;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917425	96917425	2:g.96917425C>A	ClinGen:CA10616476	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.2101_2103del	55654	TMEM127	Likely benign	3832113	RCV000357749;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917443	96917445	2:g.96917443_96917445del	ClinGen:CA10614627	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2086C>T	55654	TMEM127	Benign	13418193	RCV000262893;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917460	96917460	2:g.96917460G>A	ClinGen:CA10614165	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*2012C>T	55654	TMEM127	Benign	149122699	RCV000299400;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917534	96917534	NC_000002.11:g.96917534G>A	ClinGen:CA10614631	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1958A>C	55654	TMEM127	Benign	7058	RCV000354154;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917588	96917588	NC_000002.11:g.96917588T>G	ClinGen:CA10616352	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.1883_1886dup	55654	TMEM127	Uncertain significance	886056439	RCV000259207;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917659	96917660	NC_000002.11:g.96917662_96917665dup	ClinGen:CA10614632	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1879G>A	55654	TMEM127	Uncertain significance	766485637	RCV001141104;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917667	96917667	2:g.96917667C>T	-
NM_017849.4(TMEM127):c.*1849T>G	55654	TMEM127	Uncertain significance	867431947	RCV000333222;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917697	96917697	NC_000002.11:g.96917697A>C	ClinGen:CA10616482	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1822T>C	55654	TMEM127	Uncertain significance	144880727	RCV001142960;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917724	96917724	2:g.96917724A>G	-
NM_017849.4(TMEM127):c.*1819C>A	55654	TMEM127	Uncertain significance	551671260	RCV000275526;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917727	96917727	NC_000002.11:g.96917727G>T	ClinGen:CA10614168	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1819C>G	55654	TMEM127	Uncertain significance	551671260	RCV000387700;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917727	96917727	NC_000002.11:g.96917727G>C	ClinGen:CA10614633	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1784C>T	55654	TMEM127	Uncertain significance	571939749	RCV000330661;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917762	96917762	NC_000002.11:g.96917762G>A	ClinGen:CA10614635	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1772G>A	55654	TMEM127	Benign	537225254	RCV000385210;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917774	96917774	NC_000002.11:g.96917774C>T	ClinGen:CA10614640	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1723C>T	55654	TMEM127	Benign	551200730	RCV000290672;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917823	96917823	NC_000002.11:g.96917823G>A	ClinGen:CA10614170	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1638G>C	55654	TMEM127	Uncertain significance	753339060	RCV000327214;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917908	96917908	NC_000002.11:g.96917908C>G	ClinGen:CA10616354	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1620C>T	55654	TMEM127	Uncertain significance	886056440	RCV000381771;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96917926	96917926	2:g.96917926G>A	ClinGen:CA10616361	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1505A>G	55654	TMEM127	Benign	118172849	RCV001138221;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918041	96918041	2:g.96918041T>C	-
NM_017849.4(TMEM127):c.*1406G>A	55654	TMEM127	Uncertain significance	534881507	RCV000287241;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918140	96918140	NC_000002.11:g.96918140C>T	ClinGen:CA10616483	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1306C>T	55654	TMEM127	Benign	148119945	RCV000342296;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918240	96918240	NC_000002.11:g.96918240G>A	ClinGen:CA10616364	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1301T>C	55654	TMEM127	Benign	3770239	RCV000404722;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918245	96918245	NC_000002.11:g.96918245A>G	ClinGen:CA10614171	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1257C>G	55654	TMEM127	Uncertain significance	574710319	RCV001138222;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918289	96918289	2:g.96918289G>C	-
NM_017849.4(TMEM127):c.*1252C>G	55654	TMEM127	Uncertain significance	886056441	RCV000283310;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918294	96918294	NC_000002.11:g.96918294G>C	ClinGen:CA10616365	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1233C>T	55654	TMEM127	Benign	536712285	RCV000338455;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918313	96918313	NC_000002.11:g.96918313G>A	ClinGen:CA10616366	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1197T>C	55654	TMEM127	Uncertain significance	886056442	RCV000402716;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918349	96918349	NC_000002.11:g.96918349A>G	ClinGen:CA10616487	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1178A>G	55654	TMEM127	Uncertain significance	748572058	RCV000298773;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918368	96918368	NC_000002.11:g.96918368T>C	ClinGen:CA10616488	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*1163C>T	55654	TMEM127	Benign	11691019	RCV000353674;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918383	96918383	NC_000002.11:g.96918383G>A	ClinGen:CA10614641	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*980G>A	55654	TMEM127	Uncertain significance	77989183	RCV000394443;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918566	96918566	NC_000002.11:g.96918566C>T	ClinGen:CA10614650	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*980G>C	55654	TMEM127	Uncertain significance	77989183	RCV001138643;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918566	96918566	2:g.96918566C>G	-
NM_017849.4(TMEM127):c.*883C>G	55654	TMEM127	Uncertain significance	886056443	RCV000314137;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918663	96918663	NC_000002.11:g.96918663G>C	ClinGen:CA10614172	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*866C>T	55654	TMEM127	Uncertain significance	926874804	RCV001138644;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918680	96918680	2:g.96918680G>A	-
NM_017849.4(TMEM127):c.*760dup	55654	TMEM127	Conflicting interpretations of pathogenicity	371530522	RCV000367030\|RCV003221935;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	2	96918785	96918786	NC_000002.11:g.96918792dup	ClinGen:CA10614176	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*760del	55654	TMEM127	Likely benign	371530522	RCV000272443;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918786	96918786	NC_000002.11:g.96918792del	ClinGen:CA10616489	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*674dup	55654	TMEM127	Likely benign	201871634	RCV000327402;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918871	96918872	2:g.96918871_96918872insG	ClinGen:CA10616491	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*662G>A	55654	TMEM127	Uncertain significance	886056445	RCV000363418;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918884	96918884	2:g.96918884C>T	ClinGen:CA10614178	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*612C>T	55654	TMEM127	Uncertain significance	549115489	RCV001141220;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96918934	96918934	2:g.96918934G>A	-
NM_017849.4(TMEM127):c.*502C>T	55654	TMEM127	Benign	191970829	RCV000268701;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919044	96919044	2:g.96919044G>A	ClinGen:CA10614651	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*340G>A	55654	TMEM127	Uncertain significance	1032246352	RCV001141221;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919206	96919206	2:g.96919206C>T	-
NM_017849.4(TMEM127):c.*338G>A	55654	TMEM127	Benign	13022177	RCV000323747;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919208	96919208	2:g.96919208C>T	ClinGen:CA10616492	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*249G>A	55654	TMEM127	Uncertain significance	886056446	RCV000378486;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919297	96919297	2:g.96919297C>T	ClinGen:CA10614181	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*179C>T	55654	TMEM127	Uncertain significance	932134479	RCV001141222;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919367	96919367	2:g.96919367G>A	-
NM_017849.4(TMEM127):c.*57C>T	55654	TMEM127	Benign	147532087	RCV000284004;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919489	96919489	2:g.96919489G>A	ClinGen:CA10616367	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*50C>T	55654	TMEM127	Benign/Likely benign	72937654	RCV000320702\|RCV001564377;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900	2	96919496	96919496	2:g.96919496G>A	ClinGen:CA1777248	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.*16C>G	55654	TMEM127	Uncertain significance	1251288941	RCV001141223;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919530	96919530	2:g.96919530G>C	-
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)	55654	TMEM127	Uncertain significance	1684140913	RCV001204092\|RCV003473745;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919589	96919589	2:g.96919589T>C	-
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)	55654	TMEM127	Conflicting interpretations of pathogenicity	373951977	RCV000460945\|RCV000562053\|RCV003463853\|RCV003441862;	N	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,OMIM:171300, Orphanet:29072\|MedGen:C3661900	2	96919598	96919598	NC_000002.11:g.96919598G>A	ClinGen:CA1777260	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.654G>A (p.Glu218=)	55654	TMEM127	Likely benign	776822044	RCV000375345\|RCV002365407;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96919609	96919609	2:g.96919609C>T	ClinGen:CA1777263	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)	55654	TMEM127	Uncertain significance	-1	RCV003464689;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919620	96919620		-
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)	55654	TMEM127	Uncertain significance	1485424649	RCV001292606\|RCV002366110;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96919621	96919621	96919621	-
NM_017849.4(TMEM127):c.627_640dup (p.Met214fs)	55654	TMEM127	Likely pathogenic	121908831	RCV000114834;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919622	96919623	2:g.96919622_96919623insTCTCTGAGAGCAGC	ClinGen:CA269763	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.621G>A (p.Ala207=)	55654	TMEM127	Benign	3852673	RCV000039051\|RCV000162443\|RCV000280717\|RCV000588500\|RCV001513083;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072	2	96919642	96919642	2:g.96919642C>T	ClinGen:CA137109	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)	55654	TMEM127	Uncertain significance	1684143889	RCV001066831\|RCV003315446;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919647	96919647	2:g.96919647G>A	-
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)	55654	TMEM127	Uncertain significance	200351681	RCV000458726\|RCV001024755\|RCV003228927\|RCV003476022;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919665	96919665	NC_000002.11:g.96919665G>T	ClinGen:CA1777273	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys)	55654	TMEM127	Conflicting interpretations of pathogenicity	140860906	RCV000335726\|RCV000569970\|RCV000817500;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072	2	96919674	96919674	2:g.96919674G>A	ClinGen:CA1777274	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)	55654	TMEM127	Uncertain significance	373781978	RCV001211504\|RCV002348694\|RCV003462709;	N	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,OMIM:171300, Orphanet:29072	2	96919695	96919695	2:g.96919695C>T	-
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)	55654	TMEM127	Benign/Likely benign	146965678	RCV000163493\|RCV000234199\|RCV000404591\|RCV000439997\|RCV001723732;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN169374\|MedGen:C3661900	2	96919698	96919698	2:g.96919698G>A	ClinGen:CA188441	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala)	55654	TMEM127	Uncertain significance	761885719	RCV001348463\|RCV002350646\|RCV003469581;	N	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,OMIM:171300, Orphanet:29072	2	96919718	96919718	96919718	-
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)	55654	TMEM127	Benign/Likely benign	550833832	RCV000227250\|RCV000566175\|RCV002494655;	N	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,OMIM:171300, Orphanet:29072	2	96919729	96919729	NC_000002.11:g.96919729G>A	ClinGen:CA1777287	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)	55654	TMEM127	Uncertain significance	1553436876	RCV000569055\|RCV000806090\|RCV002291674;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919737	96919737	NC_000002.11:g.96919737T>C	ClinGen:CA347652535	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp)	55654	TMEM127	Uncertain significance	1364190464	RCV001964929\|RCV002334913\|RCV003464250;	N	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,OMIM:171300, Orphanet:29072	2	96919757	96919757	96919757	-
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)	55654	TMEM127	Pathogenic	121908830	RCV000000128\|RCV000114833\|RCV000164900\|RCV001381352;	N	MedGen:C3149711\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072	2	96919788	96919788	2:g.96919788G>A	ClinGen:CA113855,OMIM:613403.0002	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.472C>G (p.Gln158Glu)	55654	TMEM127	Uncertain significance	769988721	RCV000296196\|RCV000794346\|RCV002338939;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96919791	96919791	2:g.96919791G>C	ClinGen:CA10614652	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter)	55654	TMEM127	Pathogenic	780133289	RCV000536742\|RCV001022916\|RCV003459233;	N	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,OMIM:171300, Orphanet:29072	2	96919794	96919794	NC_000002.11:g.96919794G>A	ClinGen:CA1777299	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)	55654	TMEM127	Pathogenic/Likely pathogenic	886039439	RCV000256121\|RCV000558429\|RCV000564643\|RCV001250425;	N	MedGen:C3661900\|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,OMIM:171300, Orphanet:29072	2	96919799	96919799	2:g.96919799A>T	ClinGen:CA10588348	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter)	55654	TMEM127	Likely pathogenic	121908829	RCV000114832;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919816	96919816	2:g.96919816C>T	ClinGen:CA269760	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe)	55654	TMEM127	Uncertain significance	1684152230	RCV001367043\|RCV003462931;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919820	96919820	96919820	-
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)	55654	TMEM127	Uncertain significance	-1	RCV003466446;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919830	96919830		-
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile)	55654	TMEM127	Uncertain significance	772153618	RCV000538062\|RCV000764449\|RCV001022205;	N	MONDO:MONDO:0017366,MedGen:C1708353, 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	2	96919836	96919836	NC_000002.11:g.96919836C>T	ClinGen:CA1777304	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.426C>T (p.Thr142=)	55654	TMEM127	Benign/Likely benign	552787569	RCV000562893\|RCV000870226\|RCV002497206;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919837	96919837	NC_000002.11:g.96919837G>A	ClinGen:CA52412228	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)	55654	TMEM127	Likely pathogenic	121908828	RCV000114831;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919844	96919844	2:g.96919844C>T	ClinGen:CA269757,UniProtKB:O75204#VAR_072278	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg)	55654	TMEM127	Likely pathogenic	121908827	RCV000114830;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919845	96919845	2:g.96919845A>G	ClinGen:CA269754,UniProtKB:O75204#VAR_072277	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)	55654	TMEM127	Uncertain significance	-1	RCV002333372\|RCV003471341;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919847	96919847	96919847	-
NM_017849.4(TMEM127):c.410-1G>C	55654	TMEM127	Pathogenic	-1	RCV003322669;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96919854	96919854		-
NM_017849.4(TMEM127):c.410-2A>C	55654	TMEM127	Pathogenic	121908826	RCV000000127\|RCV000114829\|RCV002512592;	N	MedGen:C3149711\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072	2	96919855	96919855	2:g.96919855T>G	ClinGen:CA113854,OMIM:613403.0001	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.410-6T>G	55654	TMEM127	Conflicting interpretations of pathogenicity	765971817	RCV000986788\|RCV001214275;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072	2	96919859	96919859	2:g.96919859A>C	-
NM_017849.4(TMEM127):c.409+7C>T	55654	TMEM127	Benign/Likely benign	189327749	RCV000229567\|RCV000248908\|RCV000351000\|RCV001726068\|RCV002256167;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96920564	96920564	2:g.96920564G>A	ClinGen:CA1777324	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.409+1G>T	55654	TMEM127	Pathogenic/Likely pathogenic	121908825	RCV000114828\|RCV001021845;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96920570	96920570	2:g.96920570C>A	ClinGen:CA269753	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.397del (p.His133fs)	55654	TMEM127	Pathogenic	1558752379	RCV000697217\|RCV001375863\|RCV003163212;	N	MONDO:MONDO:0017366,MedGen:C1708353, 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	2	96920583	96920583	NC_000002.11:g.96920585del	-	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr)	55654	TMEM127	Benign/Likely benign	750870974	RCV000166369\|RCV000403744\|RCV000543955;	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:0017366,MedGen:C1708353, Orphanet:29072	2	96920586	96920586	2:g.96920586C>T	ClinGen:CA195674	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)	55654	TMEM127	Uncertain significance	779277417	RCV001070666\|RCV002355100\|RCV003469265;	N	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,OMIM:171300, Orphanet:29072	2	96920597	96920597	2:g.96920597C>T	-
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)	55654	TMEM127	Uncertain significance	746883021	RCV000311527\|RCV000693495\|RCV001021173\|RCV003168513;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	2	96920601	96920601	2:g.96920601G>A	ClinGen:CA1777342	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu)	55654	TMEM127	Uncertain significance	769359648	RCV000565956\|RCV000707514\|RCV003459403;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96920627	96920627	2:g.96920627G>A	ClinGen:CA1777346	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)	55654	TMEM127	Uncertain significance	-1	RCV003464690;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96920640	96920640		-
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser)	55654	TMEM127	Uncertain significance	886056447	RCV000366160\|RCV001865224;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072	2	96920681	96920681	2:g.96920681C>G	ClinGen:CA10616496	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)	55654	TMEM127	Conflicting interpretations of pathogenicity	369144563	RCV000227067\|RCV000562930\|RCV001138319\|RCV002282081;	N	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,OMIM:171300, Orphanet:29072\|MedGen:C3661900	2	96920688	96920688	2:g.96920688C>T	ClinGen:CA1777354	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)	55654	TMEM127	Uncertain significance	752938517	RCV000233289\|RCV000561820\|RCV003463676;	N	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,OMIM:171300, Orphanet:29072	2	96920691	96920691	NC_000002.11:g.96920691C>T	ClinGen:CA1777356	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.288C>T (p.Ile96=)	55654	TMEM127	Likely benign	758726687	RCV000164197\|RCV000397947\|RCV000464398;	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:0017366,MedGen:C1708353, Orphanet:29072	2	96920692	96920692	2:g.96920692G>A	ClinGen:CA190300	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln)	55654	TMEM127	Conflicting interpretations of pathogenicity	746831347	RCV000308137\|RCV000639359\|RCV001016682\|RCV002469134;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	2	96920699	96920699	2:g.96920699C>T	ClinGen:CA1777358	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)	55654	TMEM127	Uncertain significance	121908824	RCV000114826\|RCV000229383\|RCV000567548\|RCV003236777;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	2	96920700	96920700	2:g.96920700G>A	ClinGen:CA269747,UniProtKB:O75204#VAR_072276	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)	55654	TMEM127	Pathogenic	121908822	RCV000114825\|RCV000530563\|RCV002453425;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96920712	96920715	2:g.96920712_96920715del	ClinGen:CA269746	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)	55654	TMEM127	Benign/Likely benign	121908823	RCV000123408\|RCV000162495\|RCV000226605\|RCV000614122;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN169374	2	96920712	96920712	2:g.96920712C>T	ClinGen:CA186367,UniProtKB:O75204#VAR_063595	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile)	55654	TMEM127	Uncertain significance	876658430	RCV001016261\|RCV001209482\|RCV002497339;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96920714	96920714	2:g.96920714G>A	-
NM_017849.4(TMEM127):c.260C>T (p.Pro87Leu)	55654	TMEM127	Uncertain significance	-1	RCV003315493;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96920720	96920720		-
NM_017849.4(TMEM127):c.253A>C (p.Met85Leu)	55654	TMEM127	Uncertain significance	771261665	RCV001138320;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96920727	96920727	2:g.96920727T>G	-
NM_017849.4(TMEM127):c.248del (p.Phe83fs)	55654	TMEM127	Pathogenic	587781773	RCV000130014\|RCV001229517\|RCV003474756;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96920732	96920732	2:g.96920732_96920732del	ClinGen:CA165536	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.245-1G>T	55654	TMEM127	Likely pathogenic; risk factor	121908821	RCV000000129\|RCV000114824;	N	MedGen:C3149711\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96920736	96920736	2:g.96920736C>A	ClinGen:CA113858,OMIM:613403.0003	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.245-1G>C	55654	TMEM127	Pathogenic/Likely pathogenic	121908821	RCV001015587\|RCV000692290\|RCV001420569;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96920736	96920736	2:g.96920736C>G	-	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)	55654	TMEM127	Uncertain significance	121908820	RCV000114823\|RCV000542037\|RCV001014707;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96930903	96930903	2:g.96930903C>G	ClinGen:CA269743,UniProtKB:O75204#VAR_072275	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)	55654	TMEM127	Benign/Likely benign	121908819	RCV000114822\|RCV000472323\|RCV000571713\|RCV001527014\|RCV001558749;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	2	96930912	96930912	2:g.96930912C>T	ClinGen:CA269740,UniProtKB:O75204#VAR_072274	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.208del (p.Asp70fs)	55654	TMEM127	Likely pathogenic	-1	RCV002468848;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96930912	96930912	NC_000002.11:g.96930912del	-
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser)	55654	TMEM127	Uncertain significance	886056448	RCV000362855\|RCV001013341\|RCV001064699;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072	2	96930938	96930938	2:g.96930938C>G	ClinGen:CA10614186	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg)	55654	TMEM127	Uncertain significance	764136807	RCV000800910\|RCV001012880\|RCV003461124;	N	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,OMIM:171300, Orphanet:29072	2	96930948	96930948	2:g.96930948C>T	-
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)	55654	TMEM127	Uncertain significance	751779219	RCV000552456\|RCV001012652\|RCV003459232;	N	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,OMIM:171300, Orphanet:29072	2	96930954	96930954	2:g.96930954T>C	ClinGen:CA1777387	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)	55654	TMEM127	Uncertain significance	121908818	RCV000114821\|RCV000542243\|RCV001012328;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96930962	96930962	2:g.96930962C>G	ClinGen:CA269737,UniProtKB:O75204#VAR_072273	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.149dup (p.Pro51fs)	55654	TMEM127	Likely pathogenic; risk factor	121908817	RCV000000130\|RCV000114820;	N	MedGen:C3149711\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96930970	96930971	2:g.96930970_96930971insT	ClinGen:CA113859,OMIM:613403.0004	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr)	55654	TMEM127	Uncertain significance	577020327	RCV000639362\|RCV001011687\|RCV001731827\|RCV003465398;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96930975	96930975	NC_000002.11:g.96930975C>T	ClinGen:CA1777391	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.144C>T (p.Leu48=)	55654	TMEM127	Conflicting interpretations of pathogenicity	1684391372	RCV001138321\|RCV001498945\|RCV001819844\|RCV002393365;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96930976	96930976	2:g.96930976G>A	-
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser)	55654	TMEM127	Uncertain significance	995979769	RCV000528885\|RCV001010941\|RCV003114660;	N	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,OMIM:171300, Orphanet:29072	2	96930987	96930987	NC_000002.11:g.96930987A>T	ClinGen:CA52419092	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)	55654	TMEM127	Uncertain significance	-1	RCV003464691;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96930990	96930990		-
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)	55654	TMEM127	Pathogenic	121908816	RCV000449515\|RCV000485576\|RCV000556401\|RCV000574362;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96931000	96931003	2:g.96931000_96931003del	ClinGen:CA269736	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)	55654	TMEM127	Uncertain significance	1456398772	RCV001071122\|RCV002320353\|RCV003462618;	N	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,OMIM:171300, Orphanet:29072	2	96931008	96931008	2:g.96931008C>A	-
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)	55654	TMEM127	Uncertain significance	-1	RCV003149192\|RCV003164869\|RCV003475535;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931010	96931010		-
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly)	55654	TMEM127	Uncertain significance	1451389209	RCV001009719\|RCV001369094\|RCV003473562;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931019	96931019	2:g.96931019G>C	-
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)	55654	TMEM127	Conflicting interpretations of pathogenicity	763476625	RCV000466113\|RCV000572003\|RCV003463854\|RCV003441863;	N	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,OMIM:171300, Orphanet:29072\|MedGen:C3661900	2	96931032	96931032	NC_000002.11:g.96931032T>C	ClinGen:CA16611134	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter)	55654	TMEM127	Likely pathogenic	121908815	RCV000114835;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931044	96931044	2:g.96931044G>A	ClinGen:CA269764	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met)	55654	TMEM127	Uncertain significance	749807415	RCV000554350\|RCV001294226\|RCV002367841;	N	MONDO:MONDO:0017366,MedGen:C1708353, 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	2	96931053	96931053	2:g.96931053G>T	ClinGen:CA347656182	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn)	55654	TMEM127	Uncertain significance	1348645128	RCV000563807\|RCV000706462\|RCV003459404;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931058	96931058	NC_000002.11:g.96931058C>T	ClinGen:CA347656193	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)	55654	TMEM127	Uncertain significance	-1	RCV003466447;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931059	96931059		-
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu)	55654	TMEM127	Benign/Likely benign	377740271	RCV000231126\|RCV000266671\|RCV000561595\|RCV001800597\|RCV002271479;	N	MONDO:MONDO:0017366,MedGen:C1708353, 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\|MedGen:C3661900\|MedGen:CN169374	2	96931067	96931067	NC_000002.11:g.96931067G>A	ClinGen:CA1777405	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)	55654	TMEM127	Uncertain significance	1452142786	RCV000566858\|RCV000639357\|RCV002461373\|RCV003153747;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931068	96931068	NC_000002.11:g.96931068G>A	ClinGen:CA16621984	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly)	55654	TMEM127	Uncertain significance	1249001227	RCV001053544\|RCV002339269\|RCV003473652;	N	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,OMIM:171300, Orphanet:29072	2	96931071	96931071	2:g.96931071T>C	-
NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu)	55654	TMEM127	Uncertain significance	2104308338	RCV001977883\|RCV003464345;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931076	96931076	96931076	-
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)	55654	TMEM127	Uncertain significance	-1	RCV002355167\|RCV003475343;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931083	96931083	96931083	-
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del)	55654	TMEM127	Uncertain significance	1684396239	RCV001222875\|RCV002447122\|RCV003462760;	N	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,OMIM:171300, Orphanet:29072	2	96931088	96931096	2:g.96931088_96931096del	-
NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)	55654	TMEM127	Uncertain significance	-1	RCV003466448;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931091	96931091		-
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg)	55654	TMEM127	Uncertain significance	786202314	RCV000165058\|RCV001301455\|RCV003462163;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931107	96931107	2:g.96931107C>T	ClinGen:CA192410	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.12C>T (p.Pro4=)	55654	TMEM127	Conflicting interpretations of pathogenicity	1406470818	RCV000550608\|RCV001010851\|RCV001138741;	N	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,OMIM:171300, Orphanet:29072	2	96931108	96931108	NC_000002.11:g.96931108G>A	ClinGen:CA427496535	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser)	55654	TMEM127	Uncertain significance	1024081498	RCV000639346\|RCV001017295\|RCV003472007;	N	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,OMIM:171300, Orphanet:29072	2	96931110	96931110	NC_000002.11:g.96931110G>A	ClinGen:CA52419186	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile)	55654	TMEM127	Pathogenic/Likely pathogenic	121908814	RCV000114827\|RCV000566096\|RCV003313036;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	2	96931117	96931117	2:g.96931117C>A	ClinGen:CA269750	C0027672 Hereditary cancer-predisposing syndrome;
NM_017849.4(TMEM127):c.-18C>T	55654	TMEM127	Likely pathogenic	121908813	RCV000114818\|RCV000767316;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN517202	2	96931137	96931137	2:g.96931137G>A	ClinGen:CA269735	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.-37A>G	55654	TMEM127	Uncertain significance	886056449	RCV000324130;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931156	96931156	2:g.96931156T>C	ClinGen:CA10614189	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.-59C>T	55654	TMEM127	Benign	542087360	RCV000357790;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931178	96931178	2:g.96931178G>A	ClinGen:CA10616377	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.-87C>T	55654	TMEM127	Benign	527792197	RCV000265358;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931206	96931206	2:g.96931206G>A	ClinGen:CA10616379	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.-114C>T	55654	TMEM127	Uncertain significance	1684402630	RCV001138742;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931233	96931233	2:g.96931233G>A	-
NM_017849.4(TMEM127):c.-131-7C>T	55654	TMEM127	Conflicting interpretations of pathogenicity	886056450	RCV000318178\|RCV002256217;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	2	96931257	96931257	2:g.96931257G>A	ClinGen:CA10616380	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.-196C>T	55654	TMEM127	Uncertain significance	886056451	RCV000375028;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931671	96931671	2:g.96931671G>A	ClinGen:CA10616381	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.-220T>C	55654	TMEM127	Uncertain significance	886056452	RCV000259427;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931695	96931695	2:g.96931695A>G	ClinGen:CA10614191	C0031511 171300 Pheochromocytoma;
NM_017849.4(TMEM127):c.-242G>A	55654	TMEM127	Uncertain significance	886056453	RCV000316831;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	2	96931717	96931717	2:g.96931717C>T	ClinGen:CA10616382	C0031511 171300 Pheochromocytoma;
NM_000551.3(VHL):c.-207C>T	7428	VHL	Uncertain significance	886057698	RCV000363267\|RCV002504149;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0009892,MedGen:C1	3	10183325	10183325	3:g.10183325C>T	ClinGen:CA10616659	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.3(VHL):c.-73C>T	7428	VHL	Conflicting interpretations of pathogenicity	1034934219	RCV000764456\|RCV001148529\|RCV001796976;	N	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1	3	10183459	10183459	NC_000003.11:g.10183459C>T	-	CN517202 not provided;
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)	7428	VHL	Uncertain significance	730882038	RCV000161097\|RCV001812139\|RCV002485005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:	3	10183521	10183522	NC_000003.11:g.10183523_10183536dup	ClinGen:CA020491	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.-10C>T	7428	VHL	Likely benign	1192379474	RCV000609650\|RCV002498924;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; MONDO:MONDO:0	3	10183522	10183522	3:g.10183522C>T	ClinGen:CA541213514	CN169374 not specified;
NM_000551.4(VHL):c.116G>T (p.Gly39Val)	7428	VHL	Uncertain significance	368473853	RCV001965049\|RCV002463077\|RCV002492024\|RCV003167408;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0	3	10183647	10183647	10183647	-
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)	7428	VHL	Uncertain significance	104893827	RCV000002315\|RCV000585971\|RCV000704785;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183719	10183719	3:g.10183719T>C	ClinGen:CA020079,UniProtKB:P40337#VAR_034987,OMIM:608537.0016	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	7428	VHL	Pathogenic/Likely pathogenic	104893826	RCV000002314\|RCV000132356\|RCV000208872\|RCV000475973\|RCV000679019;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C	3	10183722	10183722	3:g.10183722G>C	ClinGen:CA020089,UniProtKB:P40337#VAR_034988,OMIM:608537.0015	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.221T>C (p.Val74Ala)	7428	VHL	Uncertain significance	5030803	RCV000484327\|RCV000698497\|RCV002475938;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0	3	10183752	10183752	3:g.10183752T>C	ClinGen:CA16617786	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	7428	VHL	Pathogenic	5030808	RCV000002325\|RCV000208813\|RCV000698471\|RCV002433441\|RCV003460405;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837	3	10183808	10183808	3:g.10183808G>A	ClinGen:CA020230,UniProtKB:P40337#VAR_005705,OMIM:608537.0026	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	7428	VHL	Pathogenic/Likely pathogenic	864321643	RCV000203508\|RCV000208847\|RCV001064921\|RCV002433899;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0	3	10183824	10183824	3:g.10183824A>C	ClinGen:CA279916	C0031511 171300 Pheochromocytoma;
NM_000551.4(VHL):c.340+714G>A	7428	VHL	Uncertain significance	1054796088	RCV001323871\|RCV001810030;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	3	10184585	10184585	10184585	-
NM_000551.4(VHL):c.426T>C (p.Val142=)	7428	VHL	Likely benign	143594610	RCV000831341\|RCV001474154\|RCV002487874\|RCV002332737;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0	3	10188283	10188283	3:g.10188283T>C	-
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)	7428	VHL	Uncertain significance	869025650	RCV000698934\|RCV002477597\|RCV002332473;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008667,MedGen:C0	3	10188287	10188287	NC_000003.11:g.10188287G>A	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.463+3A>G	7428	VHL	Conflicting interpretations of pathogenicity	1131690954	RCV000492736\|RCV000587888\|RCV001809448\|RCV003316644;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188323	10188323	NC_000003.11:g.10188323A>G	ClinGen:CA645369331	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.479A>T (p.Glu160Val)	7428	VHL	Likely pathogenic	864321641	RCV000203510;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	3	10191486	10191486	3:g.10191486A>T	ClinGen:CA279917	C0031511 171300 Pheochromocytoma;
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	7428	VHL	Pathogenic	5030820	RCV000002302\|RCV000002303\|RCV000132159\|RCV000213079\|RCV000435817\|RCV000627746\|RCV000763092;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenot	3	10191506	10191506	3:g.10191506C>T	ClinGen:CA020450,UniProtKB:P40337#VAR_005762,OMIM:608537.0003	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.509T>C (p.Val170Ala)	7428	VHL	Likely pathogenic	864321642	RCV000203560;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	3	10191516	10191516	3:g.10191516T>C	ClinGen:CA279950	C0031511 171300 Pheochromocytoma;
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)	7428	VHL	Uncertain significance	5030823	RCV000203537\|RCV001853277;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191555	10191555	3:g.10191555C>G	ClinGen:CA277912	C0031511 171300 Pheochromocytoma;
NM_000551.4(VHL):c.562C>G (p.Leu188Val)	7428	VHL	Pathogenic/Likely pathogenic	5030824	RCV000002312\|RCV000002311\|RCV000002313\|RCV000210199\|RCV000480890\|RCV000627743\|RCV003330076;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009	3	10191569	10191569	3:g.10191569C>G	UniProtKB:P40337#VAR_005777,OMIM:608537.0014,ClinGen:CA020488	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.588dup (p.Asp197fs)	7428	VHL	Likely pathogenic	864321640	RCV000203546;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	3	10191592	10191593	3:g.10191592_10191593insA	ClinGen:CA279940	C0031511 171300 Pheochromocytoma;

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