SDHB (succinate dehydrogenase complex iron sulfur subunit B)

Gene

• Entrez ID: 6390
• Gene name: Succinate dehydrogenase complex iron sulfur subunit B
• Gene symbol: SDHB
• Synonyms (NCBI Gene): CWS2, IP, MC2DN4, PGL4, PPGL4, SDH, SDH1, SDH2, SDHIP
• Chromosome: 1
• Chromosome location: 1p36.13
• Summary: Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11541235	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs33927012	A>G	Benign, benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs34261028	GAAGAAGAAGAA>-,GAA,GAAGAA,GAAGAAGAA,GAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAAGAA	Benign-likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs34309090	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs74315366	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs74315367	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315368	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315369	G>A,C	Uncertain-significance, benign, pathogenic	Missense variant, stop gained, coding sequence variant
rs74315370	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs74315371	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315372	T>C,G	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111430410	C>T	Likely-benign, uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant
rs121917755	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138996609	G>A	Pathogenic	Missense variant, coding sequence variant
rs146800605	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147815442	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs199809975	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200245469	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs202101384	T>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs267607032	C>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs373976827	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516833	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs397516834	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516835	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516836	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs398122805	C>G,T	Pathogenic	Splice donor variant
rs398123690	G>-,GGG	Pathogenic	Coding sequence variant, frameshift variant
rs528442805	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs570278423	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587781266	GAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781270	A>T	Likely-pathogenic, pathogenic	Splice donor variant
rs587781735	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587782243	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs587782604	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587782617	ATTTGTCTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782703	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs587782904	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727503415	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504457	A>G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs747198089	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs747518441	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs751000085	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs760169139	A>C,G	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs762812025	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs772551056	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs778952116	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs786201063	C>T	Pathogenic	Splice donor variant
rs786201085	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786201095	A>C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs786201161	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs786201316	T>CC	Pathogenic	Coding sequence variant, frameshift variant
rs786202100	GAGGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786202732	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs786203251	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs786203506	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs786203529	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786203800	A>T	Pathogenic	Coding sequence variant, stop gained
rs794728946	C>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained
rs794728947	->G	Pathogenic	Coding sequence variant, frameshift variant
rs794728948	->TAGA	Pathogenic	Coding sequence variant, frameshift variant
rs794728949	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728950	TAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs864321636	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs864321637	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs864321638	A>C	Likely-pathogenic	Coding sequence variant, stop gained
rs864321639	ATCGATAGA>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs876658367	C>T	Pathogenic	Missense variant, coding sequence variant
rs876658451	G>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs876658461	G>A	Pathogenic	Coding sequence variant, stop gained
rs876658540	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs876658713	T>A,G	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876659329	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876659330	C>G	Likely-pathogenic	Intron variant
rs876659491	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660368	CCTCACC>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs876660642	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854572	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854574	T>G	Likely-pathogenic	Splice acceptor variant
rs878854575	T>A	Pathogenic	Coding sequence variant, stop gained
rs878854576	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs916516745	C>T	Pathogenic	Stop gained, coding sequence variant
rs1045881797	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1060503751	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503752	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503753	T>A	Pathogenic	Stop gained, coding sequence variant
rs1060503757	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503759	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060503762	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060503763	A>C,G	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1060503764	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1060503767	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794269	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794270	T>C	Pathogenic	Splice acceptor variant
rs1131691047	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691049	T>A	Likely-pathogenic, pathogenic	Initiator codon variant, missense variant
rs1131691050	->GTTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1131691051	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691052	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1131691053	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691054	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691055	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1131691057	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1131691058	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691059	TCCACCAGTA>CC	Pathogenic	Coding sequence variant, frameshift variant
rs1131691060	C>T	Pathogenic	Splice acceptor variant
rs1131691061	C>T	Likely-pathogenic, pathogenic	Initiator codon variant, missense variant
rs1209914140	->CGCCTCTGTGAAG	Pathogenic	Coding sequence variant, frameshift variant
rs1228560456	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1278834014	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs1480267715	AATCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553176976	->AGCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553176979	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553177285	T>A	Pathogenic	Coding sequence variant, stop gained
rs1553177290	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs1553177292	C>T	Likely-pathogenic	Splice acceptor variant
rs1553177424	A>C	Pathogenic	Splice donor variant
rs1553177436	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553177666	GGACTAATGACCAG>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1553177667	C>T	Likely-pathogenic	Splice donor variant
rs1553177669	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553177672	TCTTC>CCTT	Pathogenic	Frameshift variant, coding sequence variant
rs1553177676	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553177677	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553177678	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553177679	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553177687	CTG>AGATACC	Pathogenic	Frameshift variant, coding sequence variant
rs1553177688	->CCATA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553177739	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553177741	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553177742	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553177769	T>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553177772	G>C	Likely-pathogenic	Intron variant
rs1553178040	G>T	Pathogenic	Coding sequence variant, stop gained
rs1553178041	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553178726	C>G	Uncertain-significance, pathogenic	Intron variant
rs1553178729	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553178757	T>C	Pathogenic	Intron variant
rs1553179313	GCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCT>-	Pathogenic	Initiator codon variant, inframe deletion, 5 prime UTR variant
rs1553179337	->GCAACCGGCGCCTCAAGGAGAGGGCG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1553179359	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557738304	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1557739966	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1557741425	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1570944788	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1570944850	->TGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCC	Pathogenic	Coding sequence variant, stop gained, inframe insertion
rs1570944890	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1570945796	->AGATATTTGTCTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1570945961	C>A	Pathogenic	Splice acceptor variant
rs1570948631	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1570958022	->TCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1570958038	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1570963430	G>A	Pathogenic	Coding sequence variant, stop gained
rs1570963451	->G	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030097	hsa-miR-26b-5p	Microarray	19088304
MIRT046037	hsa-miR-125b-5p	CLASH	23622248
MIRT733575	hsa-miR-96-3p	Luciferase reporter assay, qRT-PCR, Western blotting	31749660
MIRT733575	hsa-miR-96-3p	Luciferase reporter assay, qRT-PCR, Western blotting	31749660

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Repression	17102089
NFE2L2	Unknown	9492280
NRF1	Unknown	9492280
PLAGL1	Repression	19423711

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15961414, 19688755, 24606901, 26749241, 28380382, 28514442, 33961781, 35512704
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	2302193
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	NAS	30030361
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	30030361
GO:0006099	Process	Tricarboxylic acid cycle	TAS	2302193
GO:0006105	Process	Succinate metabolic process	IEA
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	NAS	30030361
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IEA
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IMP	26925370, 27604842
GO:0009055	Function	Electron transfer activity	IEA
GO:0009060	Process	Aerobic respiration	IBA
GO:0009060	Process	Aerobic respiration	TAS	2302193
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0022904	Process	Respiratory electron transport chain	IBA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IDA	37098072
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IEA
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048039	Function	Ubiquinone binding	ISS
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	ISS
GO:0051538	Function	3 iron, 4 sulfur cluster binding	IEA
GO:0051538	Function	3 iron, 4 sulfur cluster binding	ISS
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	ISS

Other IDs

• MIM: 185470
• HGNC: 10681
• e!Ensembl: ENSG00000117118

Protein

• UniProt ID: P21912
• Protein name: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial (EC 1.3.5.1) (Iron-sulfur subunit of complex II) (Ip) (Malate dehydrogenase [quinone] iron-sulfur subunit) (EC 1.1.5.-)
• Protein function: Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:26925370, PubMed:27604842). SDH also o
• PDB: 7KCL, 7KCM, 7KLU, 7KLV, 8GS8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13085	Fer2_3	41 → 148	2Fe-2S iron-sulfur cluster binding domain	Domain
  PF13534	Fer4_17	185 → 258		Domain

• Sequence:

  MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQT
  YEVDLNKCGPMVLDALIKIKNEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTN
  LNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEEREKL
  DGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
  YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV

• Sequence length: 280

Pathways

KEGG:

Citrate cycle (TCA cycle)
Oxidative phosphorylation
Metabolic pathways
Carbon metabolism
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Citric acid cycle (TCA cycle)

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Carney triad	Likely pathogenic; Pathogenic	rs786201095	RCV000170330
Carney-Stratakis syndrome	Likely pathogenic; Pathogenic	rs587782604, rs587782703, rs397516836, rs786202732, rs786201161, rs786201095, rs786202100, rs772551056, rs2525008654, rs876658461, rs74315366, rs398122805, rs267607032, rs1131691060, rs2077978300	RCV000762865 RCV000013630 RCV005394570 RCV005008079 RCV005008071 RCV005008070 RCV002498816 RCV000763273 RCV005008654 RCV000762866 RCV000763272 RCV000013631 RCV005007884 RCV000762867 RCV004819224 RCV005012481
Gastrointestinal stromal tumor	Pathogenic; Likely pathogenic	rs1553177440, rs2101521922, rs2101541309, rs2101513511, rs2101521760, rs2101522958, rs2101551903, rs398122805, rs2101516484, rs2101528972, rs2101523248, rs2101516424, rs2101551748, rs2101516417, rs2101513438, rs1474282888, rs2101521715, rs2101528919, rs2101521836, rs1553178726, rs2101551846, rs2101541632, rs2101513669, rs2101528951, rs2101521812, rs2101516550, rs587781270, rs760169139, rs397516835, rs587782243, rs587782604, rs587782617, rs74315370, rs587782703, rs587782904, rs2101529108, rs727503415, rs727504457, rs2525008725, rs2101516291, rs2525004176, rs786201085, rs786203251, rs138996609, rs200245469, rs397516836, rs786202732, rs786201161, rs786203529, rs786201095, rs786203506, rs786201316, rs786201063, rs786202100, rs772551056, rs747198089, rs786203800, rs2078100395, rs2525004214, rs1131691054, rs876658540, rs751000085, rs794728950, rs794728949, rs794728947, rs1553179340, rs2525008654, rs2525017788, rs876658713, rs2525004279, rs2525059780, rs864321636, rs876660642, rs876660368, rs876658461, rs876658367, rs876658451, rs878854576, rs878854575, rs878854574, rs878854572, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315372, rs2525020920, rs2525004018, rs201517260, rs2078005474, rs2525017627, rs2525059708, rs2525003739, rs2101529138, rs2525059744, rs2524995090, rs267607032, rs2525004143, rs1060503764, rs1060503752, rs1060503757, rs781590955, rs1060503759, rs1060503753, rs1060503751, rs1060503763, rs1060503762, rs876659329, rs1060503767, rs1553176976, rs1064794270, rs1131691058, rs916516745, rs1131691050, rs1131691053, rs1131691060, rs778952116, rs1131691055, rs1131691057, rs1131691061, rs1131691049, rs762812025, rs1131691052, rs1045881797, rs1553177739, rs1553177772, rs1553177424, rs1553177267, rs1553177285, rs1553177667, rs1553177677, rs1553177768, rs1209914140, rs1553177666, rs1553178729, rs1553177688, rs1553176979, rs1553177436, rs1553177676, rs1553177678, rs398123690, rs1553177669, rs397516833, rs1557738304, rs1557741425, rs1557739966, rs1570944850, rs1553177290, rs1570945796, rs1570948527, rs1570958022, rs1570958038, rs1570963430, rs1570963451, rs2077968833, rs2077978300, rs2077999421, rs747518441, rs1351034939, rs2077967597, rs2077978456, rs2077999823	RCV001377619 RCV001376933 RCV001376858 RCV001384747 RCV001382459 RCV001381306 RCV001387810 RCV001868396 RCV005213594 RCV002019589 RCV001946720 RCV001972661 RCV001934749 RCV001975219 RCV001926606 RCV001999969 RCV002016177 RCV001918002 RCV001920751 RCV001899634 RCV002016515 RCV001946951 RCV001951091 RCV002033119 RCV001972503 RCV001981499 RCV002026727 RCV000475161 RCV001886266 RCV002514739 RCV000459169 RCV000456660 RCV000633970 RCV000228450 RCV000232241 RCV000548841 RCV003774737 RCV000798906 RCV000697957 RCV005215841 RCV003103280 RCV003103339 RCV001040032 RCV000461517 RCV000473831 RCV000528137 RCV000539362 RCV000462889 RCV000821774 RCV000797086 RCV001850356 RCV000464351 RCV001054765 RCV000801474 RCV000633969 RCV000467539 RCV000627748 RCV001058703 RCV001383783 RCV003094846 RCV003776313 RCV003775371 RCV002648129 RCV000627752 RCV001385644 RCV003765132 RCV000796858 RCV001921860 RCV002594372 RCV002807218 RCV002837496 RCV002876927 RCV003003327 RCV002515512 RCV001233559 RCV001854690 RCV000472972 RCV001034642 RCV001327188 RCV001857761 RCV000475368 RCV000226466 RCV001377867 RCV000230068 RCV000229229 RCV000234616 RCV000627749 RCV000465474 RCV000022778 RCV001034689 RCV000471400 RCV000800486 RCV001857343 RCV003472640 RCV003780942 RCV003780944 RCV003797644 RCV003801125 RCV003800512 RCV003804745 RCV003802013 RCV003801643 RCV003813258 RCV003804983 RCV000627753 RCV005220917 RCV000627750 RCV000475105 RCV000471748 RCV000473527 RCV000469213 RCV000458792 RCV000463782 RCV000477482 RCV000456990 RCV000460882 RCV000473045 RCV000474236 RCV000458678 RCV001380009 RCV000696403 RCV000633948 RCV001203212 RCV001058694 RCV003766763 RCV002523446 RCV001036821 RCV001244653 RCV000633945 RCV001059539 RCV002527067 RCV002523989 RCV001379744 RCV000692227 RCV000798175 RCV001857227 RCV003766866 RCV001228851 RCV001215683 RCV001389812 RCV001207024 RCV000531863 RCV000534002 RCV001376794 RCV001383002 RCV000525173 RCV000547430 RCV001378111 RCV000557065 RCV002529306 RCV000633976 RCV000633960 RCV000633959 RCV000633978 RCV000633966 RCV003767889 RCV000633965 RCV001852786 RCV000698551 RCV000702806 RCV000695754 RCV000693104 RCV000820083 RCV000822698 RCV000795584 RCV000816787 RCV000795396 RCV000812587 RCV000823074 RCV000815216 RCV001042429 RCV001048320 RCV001223247 RCV001211133 RCV001242943 RCV001242731 RCV001237722 RCV001387122 RCV001871612 RCV001854410
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2101522958, rs1553178726, rs2101513669, rs587781270, rs587781735, rs397516835, rs200021702, rs587782243, rs587782604, rs587782617, rs74315370, rs587782703, rs587782904, rs2101529108, rs727503415, rs727504457, rs2525008725, rs2101516291, rs2525082757, rs2525003842, rs2525004176, rs138996609, rs786201085, rs786203251, rs200245469, rs397516836, rs786202732, rs786201161, rs786203529, rs786201095, rs786203506, rs786201316, rs786201063, rs786202100, rs772551056, rs747198089, rs786203800, rs2078100395, rs2525004214, rs2524994983, rs2524994962, rs2525083200, rs1131691054, rs751000085, rs794728950, rs794728946, rs794728949, rs794728948, rs794728947, rs1553179340, rs876660642, rs876660368, rs876658461, rs876658367, rs876658540, rs876658451, rs876659491, rs876658713, rs876659330, rs876659329, rs878854576, rs878854574, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315371, rs74315372, rs398122805, rs2101523059, rs1474282888, rs2525004224, rs2525082838, rs2101529138, rs267607032, rs2525004143, rs2525003715, rs1060503764, rs1060503752, rs1060503757, rs781590955, rs1060503759, rs1060503762, rs1553176976, rs1064794269, rs1064794270, rs1131691058, rs916516745, rs1131691052, rs1131691047, rs1131691050, rs1131691053, rs1131691059, rs1131691060, rs778952116, rs1131691055, rs1131691057, rs1553179337, rs1131691061, rs1131691049, rs762812025, rs1045881797, rs528442805, rs1553177772, rs760169139, rs1553177677, rs1553177292, rs1278834014, rs1553179359, rs1553177290, rs1553177676, rs1553177669, rs1553177741, rs397516833, rs1557738304, rs1557739966, rs1570958038, rs1570944788, rs1570944890, rs1570945961, rs2077978300, rs2077978456, rs2077999823, rs398123690	RCV002329400 RCV002423248 RCV005722517 RCV000128905 RCV000129932 RCV000130852 RCV000130898 RCV000130946 RCV000131970 RCV000131995 RCV000132150 RCV000132151 RCV000132547 RCV005729744 RCV000572682 RCV001016096 RCV002366561 RCV002366610 RCV002364143 RCV002382641 RCV002362153 RCV002362263 RCV000162580 RCV000166478 RCV000164275 RCV000164435 RCV000162444 RCV000162460 RCV000165688 RCV000162804 RCV000166877 RCV000162628 RCV000166840 RCV000163361 RCV000162475 RCV000164746 RCV000162578 RCV000166126 RCV000167262 RCV002376483 RCV002369498 RCV002419263 RCV002412476 RCV002407897 RCV002441395 RCV002453635 RCV001026125 RCV000492313 RCV000492455 RCV002453662 RCV000216710 RCV005482957 RCV000221959 RCV000215647 RCV000215175 RCV000220162 RCV000215934 RCV000219011 RCV000220488 RCV000222241 RCV000221442 RCV000217113 RCV000492633 RCV000492765 RCV004020795 RCV000215883 RCV000213984 RCV000129095 RCV000128877 RCV000129929 RCV000216404 RCV005722087 RCV001021521 RCV005732049 RCV003377766 RCV003377772 RCV003377773 RCV003377776 RCV004366624 RCV005273925 RCV000132167 RCV004508370 RCV004508376 RCV000163600 RCV000492377 RCV005722135 RCV000561023 RCV003168872 RCV004659052 RCV000571526 RCV002393173 RCV002413330 RCV005480375 RCV000492665 RCV000492396 RCV000492179 RCV000492198 RCV000492156 RCV000492389 RCV000492713 RCV000492561 RCV000492109 RCV000492591 RCV000492329 RCV000492576 RCV000492122 RCV000492594 RCV000492186 RCV000492218 RCV001025703 RCV002350122 RCV003302742 RCV002438228 RCV002413384 RCV002350305 RCV000563620 RCV000576054 RCV000573253 RCV000565392 RCV004948492 RCV004948553 RCV002352068 RCV000128907 RCV000492138 RCV003303166 RCV001026274 RCV001024760 RCV003307514 RCV001026234 RCV001025764 RCV001014831 RCV001024063 RCV003380816 RCV003365294 RCV002339706 RCV000569431
Hereditary pheochromocytoma and paraganglioma	Likely pathogenic; Pathogenic	rs2101521720, rs1474282888, rs587781270, rs397516835, rs587782243, rs587782604, rs74315370, rs587782703, rs587782904, rs2525020788, rs727503415, rs727504457, rs786201085, rs138996609, rs200245469, rs397516836, rs786202732, rs786201161, rs786201095, rs786201316, rs786201063, rs772551056, rs747198089, rs786203800, rs876658540, rs751000085, rs794728946, rs876660642, rs876658461, rs876658367, rs876658451, rs876658713, rs786203251, rs878854575, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs2525060115, rs267607032, rs398122805, rs781590955, rs1060503751, rs778952116, rs1131691061, rs1131691049, rs34309090, rs762812025, rs1131691052, rs1045881797, rs528442805, rs1553177672, rs1553177679, rs1553177687, rs1553177739, rs1553177742, rs1480267715, rs1553177772, rs1553178040, rs1553178041, rs760169139, rs1553179313, rs1553179359, rs1553177688, rs397516833, rs1553177290, rs1570945961, rs2077978300, rs747518441, rs2077999823	RCV001532952 RCV004017890 RCV000505293 RCV000505338 RCV000505332 RCV000505312 RCV000505277 RCV000505343 RCV005055439 RCV002282859 RCV000505315 RCV000155443 RCV003995206 RCV000505374 RCV002466456 RCV000505334 RCV000505299 RCV000505364 RCV000780706 RCV003995250 RCV000505373 RCV000505310 RCV000505352 RCV000505382 RCV005055461 RCV000505340 RCV000505286 RCV003998576 RCV001175589 RCV000505388 RCV000505376 RCV000505327 RCV004804876 RCV003323466 RCV000505337 RCV000037718 RCV000030623 RCV000505354 RCV001797588 RCV000505368 RCV004011568 RCV004018381 RCV000505378 RCV000505379 RCV004017631 RCV000505308 RCV000505304 RCV004003475 RCV000505307 RCV000505357 RCV000505318 RCV000505294 RCV000505367 RCV000505349 RCV000505347 RCV000505330 RCV000505290 RCV000505383 RCV000505358 RCV000505329 RCV000505289 RCV000505298 RCV000505375 RCV000505331 RCV000505303 RCV004802196 RCV000608103 RCV000037719 RCV000037723 RCV005055447 RCV004017776 RCV004803407 RCV004803599 RCV001280632
Inherited phaeochromocytoma and paraganglioma excluding NF1	Pathogenic; Likely pathogenic	rs2101551903, rs587782243, rs587782604, rs587782703, rs397516836, rs786201095, rs786201063, rs772551056	RCV006437052 RCV005865242 RCV005865244 RCV005865245 RCV005865255 RCV005865258 RCV005865256 RCV005865257
Inherited renal cancer	Likely pathogenic; Pathogenic	rs772551056	RCV006445528
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs1553177772	RCV005900920
Melanoma	Likely pathogenic; Pathogenic	rs587782243	RCV005886918
Mitochondrial complex 2 deficiency, nuclear type 4	Likely pathogenic; Pathogenic	rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201095, rs786202100, rs772551056, rs2525008654, rs74315368, rs267607032, rs1131691060, rs2077978300	RCV001310280 RCV005230003 RCV005394570 RCV005008079 RCV005008071 RCV005008070 RCV002498816 RCV005394571 RCV005008654 RCV004786257 RCV005007884 RCV004819224 RCV005012481
Nonpapillary renal cell carcinoma	Pathogenic	rs587781270	RCV005886895
Paraganglioma	Likely pathogenic; Pathogenic	rs2101529108, rs1131691058	RCV002251307 RCV002250641
Pheochromocytoma	Pathogenic; Likely pathogenic	rs1553177440, rs2101521922, rs2101541309, rs2101513511, rs2101521760, rs2101522958, rs2101551903, rs398122805, rs2101516484, rs2101528972, rs2101523248, rs2101516424, rs2101551748, rs2101516417, rs2101513438, rs1474282888, rs2101521715, rs2101528919, rs2101521836, rs1553178726, rs2101551846, rs2101541632, rs2101513669, rs2101528951, rs2101521812, rs2101516550, rs587781270, rs760169139, rs397516835, rs587782243, rs587782604, rs587782617, rs74315370, rs587782703, rs587782904, rs2101529108, rs727503415, rs727504457, rs2525008725, rs2101516291, rs2525004176, rs786201085, rs786203251, rs138996609, rs200245469, rs397516836, rs786202732, rs786201161, rs786203529, rs786201095, rs786203506, rs786201316, rs786201063, rs786202100, rs772551056, rs747198089, rs786203800, rs2078100395, rs2525004214, rs1131691054, rs876658540, rs751000085, rs794728950, rs794728949, rs794728947, rs1553179340, rs2525008654, rs2525017788, rs876658713, rs2525004279, rs2525059780, rs864321636, rs864321638, rs864321639, rs876660642, rs876660368, rs876658461, rs876658367, rs876658451, rs878854576, rs878854575, rs878854574, rs878854572, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315372, rs2525020920, rs2525004018, rs201517260, rs2078005474, rs2525017627, rs2525059708, rs2525003739, rs2101529138, rs2525059744, rs2524995090, rs267607032, rs2525004143, rs1060503764, rs1060503752, rs1060503757, rs781590955, rs1060503759, rs1060503753, rs1060503751, rs1060503763, rs1060503762, rs876659329, rs1060503767, rs1553176976, rs1064794270, rs1131691058, rs916516745, rs1131691050, rs1131691053, rs1131691060, rs778952116, rs1131691055, rs1131691057, rs1131691061, rs1131691049, rs762812025, rs1131691052, rs1045881797, rs1553177739, rs1553177772, rs1553177424, rs1553177267, rs1553177285, rs1553177667, rs1553177677, rs1553177768, rs1209914140, rs1553177666, rs1553178729, rs1553177688, rs1553176979, rs1553177436, rs1553177676, rs1553177678, rs398123690, rs1553177669, rs397516833, rs1557738304, rs1557741425, rs1557739966, rs1570944850, rs1553177290, rs1570945796, rs1570948527, rs1570958022, rs1570958038, rs1570963430, rs1570963451, rs2077968833, rs2077978300, rs2077999421, rs747518441, rs1351034939, rs2077967597, rs2077978456, rs2077999823	RCV001377619 RCV001376933 RCV001376858 RCV001384747 RCV001382459 RCV001381306 RCV001387810 RCV001868396 RCV001786533 RCV002019589 RCV001946720 RCV001972661 RCV001934749 RCV001975219 RCV001926606 RCV001999969 RCV002016177 RCV001918002 RCV001920751 RCV001899634 RCV002016515 RCV001946951 RCV001951091 RCV002033119 RCV001972503 RCV001981499 RCV002026727 RCV000475161 RCV001886266 RCV002514739 RCV000459169 RCV000456660 RCV000633970 RCV000228450 RCV000232241 RCV000548841 RCV003774737 RCV000798906 RCV000697957 RCV005215841 RCV003103280 RCV003103339 RCV001040032 RCV000461517 RCV000473831 RCV000528137 RCV000539362 RCV000462889 RCV000821774 RCV000797086 RCV001850356 RCV000464351 RCV001054765 RCV000801474 RCV000633969 RCV000467539 RCV000627748 RCV001058703 RCV001383783 RCV003094846 RCV003776313 RCV003775371 RCV002648129 RCV000627752 RCV001385644 RCV003765132 RCV000796858 RCV001921860 RCV002594372 RCV002807218 RCV002837496 RCV002876927 RCV003003327 RCV000203531 RCV000203511 RCV000203529 RCV001233559 RCV001854690 RCV000472972 RCV001034642 RCV001327188 RCV001857761 RCV000475368 RCV000226466 RCV001377867 RCV000230068 RCV000229229 RCV000234616 RCV000627749 RCV000465474 RCV000627751 RCV001034689 RCV000471400 RCV000800486 RCV001857343 RCV003779111 RCV003780942 RCV003780944 RCV003797644 RCV003801125 RCV003800512 RCV003804745 RCV003802013 RCV003801643 RCV003813258 RCV003804983 RCV000627753 RCV005220917 RCV000627750 RCV000475105 RCV000471748 RCV000473527 RCV000469213 RCV000458792 RCV000463782 RCV000477482 RCV000456990 RCV000460882 RCV000473045 RCV000474236 RCV000458678 RCV001380009 RCV000696403 RCV000633948 RCV001203212 RCV001058694 RCV003766763 RCV002523446 RCV001036821 RCV001244653 RCV000633945 RCV001059539 RCV002527067 RCV002523989 RCV002289679 RCV000692227 RCV000798175 RCV001857227 RCV003766866 RCV001228851 RCV001215683 RCV001389812 RCV001207024 RCV000531863 RCV000534002 RCV001376794 RCV001383002 RCV000525173 RCV000547430 RCV001378111 RCV000557065 RCV002529306 RCV000633976 RCV000633960 RCV000633959 RCV000633978 RCV000633966 RCV003767889 RCV000633965 RCV001852786 RCV000698551 RCV000702806 RCV000695754 RCV000693104 RCV000820083 RCV000822698 RCV000795584 RCV000816787 RCV000795396 RCV000812587 RCV000823074 RCV000815216 RCV001042429 RCV001048320 RCV001223247 RCV001211133 RCV001242943 RCV001242731 RCV001237722 RCV001387122 RCV001871612 RCV001854410
Pheochromocytoma/paraganglioma syndrome 4	Pathogenic; Likely pathogenic	rs1553177440, rs2101521922, rs2101541309, rs2101513511, rs2101521760, rs2101522958, rs2101551903, rs398122805, rs2101516484, rs2101528972, rs2101523248, rs2101516424, rs2101551748, rs2101516417, rs2101513438, rs1474282888, rs2101521715, rs2101528919, rs2101521836, rs1553178726, rs2101551846, rs2101541632, rs2101513669, rs2101528951, rs2101521812, rs2101516550, rs587781270, rs760169139, rs397516835, rs587782243, rs587782604, rs587782617, rs74315370, rs587782703, rs587782904, rs2101529108, rs727503415, rs727504457, rs2525008725, rs2101516291, rs2525004176, rs786201085, rs786203251, rs138996609, rs200245469, rs397516836, rs786202732, rs786201161, rs786203529, rs786201095, rs786203506, rs786201316, rs786201063, rs786202100, rs772551056, rs747198089, rs786203800, rs2078100395, rs2525004214, rs2525083200, rs1131691054, rs876658540, rs751000085, rs794728950, rs794728949, rs794728947, rs1553179340, rs2525008654, rs2525017788, rs876658713, rs2525004279, rs2525059780, rs864321636, rs876660642, rs876660368, rs876658461, rs876658367, rs876658451, rs878854576, rs878854575, rs878854574, rs878854572, rs1570963414, rs1131691049, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315371, rs74315372, rs2525018148, rs2525020920, rs2524995128, rs2077977917, rs2525004018, rs201517260, rs2078005474, rs2525017627, rs2525059708, rs2525003739, rs2101529138, rs2525059744, rs2524995090, rs267607032, rs2525004143, rs2525020453, rs1060503764, rs1060503752, rs1060503757, rs781590955, rs1060503759, rs1060503753, rs1060503751, rs1060503763, rs1060503762, rs876659329, rs1060503767, rs1553176976, rs1064794270, rs1131691058, rs916516745, rs1131691050, rs1131691053, rs1131691060, rs778952116, rs1131691055, rs1131691057, rs1131691061, rs762812025, rs1131691052, rs1045881797, rs528442805, rs1553177739, rs1553177772, rs1553177424, rs1553177267, rs1553177285, rs1553177667, rs1553177677, rs1553177768, rs1209914140, rs1553177666, rs1553178729, rs1553177292, rs1553177688, rs1553176979, rs1553177436, rs1553177676, rs1553177678, rs398123690, rs1553177669, rs397516833, rs1557738304, rs1557741425, rs1557739966, rs1570944850, rs1553177290, rs1570945796, rs1570948527, rs1570958022, rs1570958038, rs1570963430, rs1570963451, rs2077968833, rs2077978300, rs2077999421, rs747518441, rs1351034939, rs2077967597, rs2077978456, rs2077999823	RCV001377619 RCV001376933 RCV001376858 RCV001384747 RCV001382459 RCV001381306 RCV001387810 RCV001868396 RCV005213594 RCV002019589 RCV001946720 RCV001972661 RCV001934749 RCV001975219 RCV001926606 RCV001999969 RCV002016177 RCV001918002 RCV001920751 RCV001899634 RCV002016515 RCV001946951 RCV001951091 RCV002033119 RCV001972503 RCV001981499 RCV002026727 RCV000475161 RCV001886266 RCV002514739 RCV000459169 RCV000456660 RCV000633970 RCV000228450 RCV000232241 RCV000548841 RCV003774737 RCV000798906 RCV000697957 RCV005215841 RCV003103280 RCV003103339 RCV001040032 RCV000461517 RCV000473831 RCV000528137 RCV000539362 RCV000462889 RCV000821774 RCV000797086 RCV001729423 RCV000464351 RCV001054765 RCV000801474 RCV000633969 RCV000467539 RCV000232432 RCV001058703 RCV001383783 RCV003094846 RCV003776313 RCV003454287 RCV003336747 RCV002648129 RCV000627752 RCV001385644 RCV003765132 RCV000796858 RCV001921860 RCV002594372 RCV002807218 RCV002837496 RCV002876927 RCV003003327 RCV002515512 RCV001233559 RCV001854690 RCV000238597 RCV000461924 RCV001327188 RCV001857761 RCV000475368 RCV000226466 RCV001377867 RCV000230068 RCV000229229 RCV000234616 RCV003485896 RCV003334506 RCV000013616 RCV000013617 RCV000013619 RCV000013621 RCV000013623 RCV000800486 RCV003335030 RCV000013628 RCV003444086 RCV003779111 RCV003452618 RCV003452619 RCV003780942 RCV003780944 RCV003797644 RCV003801125 RCV003800512 RCV003804745 RCV003802013 RCV003801643 RCV003813258 RCV003804983 RCV000013634 RCV005220917 RCV004589251 RCV000022779 RCV000475105 RCV000471748 RCV000473527 RCV000469213 RCV000458792 RCV000463782 RCV000477482 RCV000456990 RCV000460882 RCV000473045 RCV000474236 RCV000458678 RCV000464374 RCV000696403 RCV000633948 RCV001195795 RCV001058694 RCV003766763 RCV002523446 RCV001036821 RCV001244653 RCV000633945 RCV001059539 RCV002527067 RCV002523989 RCV000550393 RCV000692227 RCV000798175 RCV001857227 RCV003766866 RCV005426086 RCV001228851 RCV001215683 RCV001389812 RCV001207024 RCV000531863 RCV000534002 RCV001376794 RCV001383002 RCV000525173 RCV000547430 RCV000551202 RCV000557065 RCV004024463 RCV002529306 RCV000633976 RCV000633960 RCV000633959 RCV000633978 RCV000633966 RCV003767889 RCV000332692 RCV000660257 RCV000698551 RCV000702806 RCV000695754 RCV000693104 RCV000820083 RCV000822698 RCV000795584 RCV000816787 RCV000795396 RCV000812587 RCV000823074 RCV000815216 RCV001042429 RCV001048320 RCV001223247 RCV001211133 RCV001242943 RCV001242731 RCV001237722 RCV001387122 RCV001871612 RCV001854410
Renal cell carcinoma	Pathogenic	rs2525004332	RCV002306284
Renal neoplasm	Likely pathogenic; Pathogenic	rs2077978456	RCV001253160
SDHB-related disorder	Pathogenic; Likely pathogenic	rs587781270, rs74315370, rs587782703, rs786203251, rs786201161, rs786201316, rs786202100, rs772551056, rs876658713, rs74315368, rs267607032, rs1060503757, rs1064794270, rs1131691057	RCV004724824 RCV004554715 RCV004732698 RCV004535125 RCV000374774 RCV004528907 RCV005250028 RCV000722045 RCV004536414 RCV004732806 RCV001836632 RCV004732542 RCV004732551 RCV001813782 RCV004535508 RCV000722044
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2101541309	RCV005922328
Von Hippel-Lindau syndrome	Pathogenic	rs74315366	RCV003233026

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
bilateral breast cancer	Conflicting classifications of pathogenicity	rs570278423	RCV001004837
Cardiac arrhythmia	Uncertain significance	rs200418115	RCV006255173
Cowden syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs35962811, rs74315369, rs147815442, rs141230910, rs34599281, rs34261028, rs201728852, rs11203289, rs33927012, rs1060503758, rs774568101, rs138979875, rs202014362, rs1557739989, rs761350633	RCV000148867 RCV005365043 RCV005365057 RCV005361203 RCV005361412 RCV005361493 RCV005355619 RCV000013632 RCV000013633 RCV000708780 RCV000708786 RCV005357559 RCV000708782 RCV000708784 RCV000708779
Cowden syndrome 1	Benign; Likely benign	rs34916635	RCV000709876
Gastric cancer	Conflicting classifications of pathogenicity	rs751920183	RCV005899510
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs1553179312	RCV005900145
Malignant tumor of breast	Conflicting classifications of pathogenicity	rs33927012	RCV001269360
Mitochondrial complex II deficiency, nuclear type 1	Conflicting classifications of pathogenicity	rs202101384	RCV001249469
Ovarian cancer	Conflicting classifications of pathogenicity	rs2101513801, rs186768244, rs2078004347	RCV003154663 RCV003153568 RCV003153946
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs542180633, rs2525004386	RCV005912799 RCV005928655
Papillary renal cell carcinoma type 1	Benign; Likely benign	rs111430410	RCV000148868

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Injuries	Associate	18840642, 22270996, 22948026, 27839933, 36945070
Abdominal Neoplasms	Associate	32863293
Acne Vulgaris	Associate	33113876
Adenocarcinoma	Stimulate	24387319
Adenoma Islet Cell	Associate	36455002
Adenoma Oxyphilic	Associate	31299266
Adrenal Gland Neoplasms	Associate	26170485
Alzheimer Disease	Associate	35432724
Arthropathy progressive pseudorheumatoid of childhood	Associate	38152133
Ataxia Telangiectasia	Associate	17487275, 35486677
Brain Diseases	Associate	30972844
Brain Neoplasms	Associate	21969497
Breast Neoplasms	Associate	18678321, 21979946
Calcinosis Cutis	Associate	21969497, 22036874, 22167067, 25048685, 25371406, 25683602, 25873086, 28284009, 32462735, 32863293, 35037935, 35300626
Calcinosis Cutis	Inhibit	29117221
Calcinosis Cutis	Stimulate	39735644
Cancer Pain	Associate	30045248
Carcinogenesis	Associate	25048361, 35510387
Carcinoma Hepatocellular	Associate	24203292, 36308411
Carcinoma Lobular	Associate	25053597
Carcinoma Neuroendocrine	Associate	36653904
Carcinoma Pancreatic Ductal	Associate	37312426
Carcinoma Renal Cell	Associate	14685938, 15220362, 18678321, 23083876, 24625421, 25034258, 26370861, 26719882, 26722403, 27573198, 29978187, 31034483, 31092265, 31308404, 33165095, 33564363, 33664427, 34014604, 34551979, 35288096, 35308143, 35414767, 35510387, 36455002, 39486656
Carcinoma Renal Cell	Inhibit	23531856, 34949766
Carney Stratakis Syndrome	Associate	19522821, 20890271, 22889736, 23109135, 23282968, 24859990
Carney Triad	Inhibit	24859990
Carotid Body Tumor	Associate	21820839, 22109755, 23433498, 24169168, 31856921, 32971818, 34940133
Central Nervous System Neoplasms	Associate	30971719
Colonic Neoplasms	Associate	36949947
Colorectal Neoplasms	Associate	28423651, 34853215, 38378070
Congenital thrombotic disease due to Protein C deficiency	Associate	21196298
Cough	Associate	22670000
Cowden Like Syndrome	Associate	18678321, 21979946, 22829200
Death	Associate	37008946
Diabetes Mellitus Type 2	Associate	38034011
Disease	Associate	27896548
Familial Primary Pulmonary Hypertension	Associate	14685938
Galactorrhea	Associate	38152133
Gastritis Atrophic	Associate	33620602
Gastrointestinal Stromal Tumors	Associate	19522821, 21173220, 21997692, 22948025, 22955521, 23071355, 23109135, 23282968, 23531856, 23550148, 23612575, 23743927, 24124608, 24356634, 24625421, 25034258, 25165019, 25239601, 25540324, 26370861, 26415883, 26555092, 26722403, 27011036, 28130400, 31124195, 31308404, 33199729, 33854214, 34426440, 34853215
Gastrointestinal Stromal Tumors	Inhibit	22892600
Genetic Diseases Inborn	Associate	23174939, 28099933
Glaucoma Open Angle	Associate	34348663
Glomus Tumor	Associate	12000816, 33826262
Glucagonoma	Associate	33505538
Hamartoma Syndrome Multiple	Associate	18678321, 22889736
Head and Neck Neoplasms	Associate	11897817, 15505628, 16405730, 21224366, 21752889, 21820839, 22109755, 27573198, 31194233, 31856921, 32023584, 32035780, 32460727, 32863293, 34654328, 35171114, 35460558
Headache	Associate	38152133
Heart Neoplasms	Associate	14685938
Hemangioblastoma	Associate	30971719
Hepatolenticular Degeneration	Associate	39809184
Hereditary leiomyomatosis and renal cell cancer	Associate	26472283, 28288038
Huntington Disease	Stimulate	27611087
Huntington Disease	Associate	29959348
Hypertension	Associate	25402382, 32460727
Hypoxia	Associate	12665464, 17487275
Hypoxia Brain	Associate	20980436
Immunoglobulin G4 Related Disease	Associate	27896548
Immunologic Deficiency Syndromes	Associate	24625421, 25427437, 26893822, 31092265, 35300626
Inflammation	Associate	30134173, 35486677
Insomnia Fatal Familial	Inhibit	27338255
Intestinal Atresia Multiple	Associate	40624119
Islet cell tumor syndrome	Associate	11404820, 16405730, 23360571, 26370861
Kidney Neoplasms	Associate	14685938, 23083876, 28784873, 30482207, 34551979, 34949766, 36455002
Leigh Disease	Associate	22972948
Leukodystrophy Metachromatic	Associate	22972948
Leukoencephalopathies	Associate	22972948
Liver Failure	Associate	21997692
Lung Diseases Interstitial	Associate	30940853
Lymphoma Follicular	Associate	31856921
Marfan Syndrome	Associate	37245000
Mediastinitis	Associate	19189136
MELAS Syndrome	Associate	30972844
Meningioma	Associate	26370861
MERRF Syndrome	Associate	30972844
Mitochondrial Complex II Deficiency	Associate	16288654, 22889736, 22955521, 22972948, 23743927, 25034258, 31124195
Mitochondrial Complex II Deficiency	Inhibit	21997692, 26415883, 30680959, 31308404, 34551979, 34940133
Mitochondrial Diseases	Associate	29288336, 34012134, 37312426
Multiple Endocrine Neoplasia Type 1	Associate	23778871, 38152133
Multiple Endocrine Neoplasia Type 2a	Associate	21262951
Multiple Sclerosis	Associate	35929063
Muscle Hypotonia	Associate	22972948
Nasopharyngeal Carcinoma	Associate	26547584, 27981552
Neoplasm Invasiveness	Associate	34906457
Neoplasm Metastasis	Associate	19618298, 23282968, 25014000, 25371406, 26547584, 27839933, 29117221, 30106970, 31216007, 32062700, 34426440, 34452955, 34770976, 34853215, 35414767, 35574028, 37008946, 38179299, 39735644
Neoplasm Metastasis	Stimulate	22136839
Neoplasms	Associate	15220362, 16288654, 17200167, 17208193, 18840642, 19596260, 19618298, 20505258, 20890271, 21051559, 21820839, 22036874, 22134189, 22343896, 22573489, 22835832, 23071355, 23154831, 23512077, 23555188, 23702733, 24169168, 24239180, 24387319, 24466223, 24526120, 24595825, 24625421, 24694336, 24859990, 24925884, 25014000, 25232952, 25459911, 25540324, 25608029, 25625332, 25720320, 26173966, 26261517, 26472283, 26523625, 26547584, 26719882, 26722403, 26837305, 26960314, 27573198, 27839933, 27865588, 27896548, 27910947, 28165631, 28229225, 28423651, 28724664, 29386252, 29967109, 30045248, 30050099, 30680959, 31092265, 31216007, 31828108, 32023584, 32462735, 32863293, 33854214, 34308104, 34415331, 34521993, 34940133, 35008989, 35037935, 35149119, 35977513, 36178902, 36368995, 36455002, 36706634, 36816543, 36897220, 36949947, 37008946, 37175927, 37245000, 38179299, 39735644
Neoplasms	Inhibit	16405730, 19368708, 22955521, 22972948, 24832166, 25491408, 30971719, 34949766, 38378070
Neoplasms	Stimulate	22136839
Neoplasms Germ Cell and Embryonal	Associate	33113876
Neoplasms Nerve Tissue	Associate	20205103
Neoplasms Unknown Primary	Associate	24387319
Neoplastic Syndromes Hereditary	Associate	11897817, 14685938, 16405730, 19368708, 19389109, 19628817, 20484225, 20505258, 21196298, 21455202, 22972948, 23174939, 23318864, 25402382, 26722403, 28099933, 29925701, 32354376, 39191493
Neural crest tumor	Associate	16061558
Neurilemmoma	Associate	34446460
Neuroblastoma	Associate	15505628, 20398431, 24595825, 26173966, 36675163
Neurodegenerative Diseases	Associate	32490968
Neuroendocrine Tumors	Associate	34906457, 35977513
Neurofibromatosis 1	Associate	21262951
Neurofibromatosis 2	Associate	33505538
Niemann Pick Disease Type C	Associate	26547584
Oligodendroglioma	Associate	29890994
Otitis Media	Associate	37175927
Ovarian Neoplasms	Associate	25491408, 33560870
Paraganglioma	Associate	11404820, 11897817, 14685938, 16080474, 16288654, 16405730, 17102082, 17200167, 17208193, 18826997, 18840642, 19075037, 19189136, 19269919, 19368708, 19389109, 19522821, 19576851, 19596260, 19618298, 19628817, 20205103, 20208144, 20398431, 20418362, 20505258, 20540712, 20890271, 20980436, 21051559, 21106325, 21196298, 21455202, 21461997, 21820839, 22109755, 22136839, 22167067, 22261759, 22270996, 22670000, 22835832, 22889736, 22948026, 22972948, 23174939, 23282968, 23360571, 23433498, 23512077, 23550148, 23555188, 23778871, 23889685, 23955600, 24466223, 24595825, 24859990, 25034258, 25048685, 25371406, 25402382, 25459911, 25625332, 25638014, 25720320, 25873086, 26173966, 26457353, 26472283, 26523625, 26960314, 27573198, 27700540, 27819762, 27896548, 28099933, 28122379, 29386252, 29890994, 30045248, 30106970, 31216007, 31308404, 31365623, 32062700, 32460727, 32462735, 32863293, 32892244, 32901905, 32948195, 33031286, 33113876, 33362715, 34446460, 34452955, 34558728, 34853215, 34899602, 35300626, 35498434, 35977513, 36178902, 38152133, 38179299, 40235160
Paraganglioma Extra Adrenal	Associate	19596260, 21969497, 25720320, 27896548
Paragangliomas 3	Associate	17200167, 19189136, 19269919, 20890271, 24239180, 24429046, 26837305, 27819762, 34654328, 35351744
Parathyroid Neoplasms	Associate	39536727
Personality Disorders	Associate	35149119
Pheochromocytoma	Associate	11404820, 12000816, 16098460, 16288654, 16405730, 17200167, 19368708, 19389109, 20205103, 20398431, 20484225, 20505258, 20890271, 20980436, 21196298, 21262951, 21455202, 21969497, 22036874, 22167067, 22241719, 22270996, 22573489, 22835832, 22889736, 22948026, 22972948, 23174939, 23512077, 23550148, 23555188, 24466223, 24625421, 24694336, 24925884, 25048685, 25494863, 25625332, 25720320, 25873086, 26359261, 26370861, 26472283, 26523625, 26722403, 26960314, 27573198, 27839933, 28099933, 28229225, 28374168, 29623478, 30050099, 30106970, 31216007, 31365623, 32062700, 32460727, 32471518, 32901905, 33113876, 33362715, 33397040, 33947839, 34415331, 34452955, 34536193, 34770976, 34797335, 34899602, 34906457, 35008989, 35037935, 35149119, 35300626, 35977513, 36178902, 36314599, 36946182, 37008946, 37285461, 38152133, 38179299
Pituitary Neoplasms	Associate	22889736, 24625421, 25494863, 28284009, 38152133
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	17487275
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	17487275
Pregnancy Complications	Associate	26523625
Prolactinoma	Associate	24625421, 38152133
Prostate Cancer Hereditary 8	Associate	34452955
Pyruvate Carboxylase Deficiency Disease	Associate	30201732
Sarcoma	Associate	34308104
Sciatic Neuropathy	Associate	23433498
Signs and Symptoms	Associate	38152133
Smooth Muscle Tumor	Associate	26472283
Spinocerebellar Degenerations	Associate	17487275
Squamous Cell Carcinoma of Head and Neck	Associate	25048361
Stomach Diseases	Associate	23717541, 37477937
Stomach Neoplasms	Associate	26182300, 33620602
Streptococcal Infections	Associate	9362524
Stroke	Associate	30972844
Systemic Inflammatory Response Syndrome	Associate	30134173
Thyroid Neoplasms	Associate	21979946, 22889736
Thyroiditis	Associate	18678321
Triple X syndrome	Associate	37245000
Urinary Bladder Diseases	Associate	25683602, 26457353, 27819762
Urinary Bladder Neoplasms	Associate	26170485
Uterine Cervical Neoplasms	Associate	17986283
Visceral myopathy familial external ophthalmoplegia	Associate	36232299
Vision Disorders	Associate	38152133
von Hippel Lindau Disease	Associate	22573489
Wilms Tumor	Associate	22974104