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: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Paraganglioma (D010235)
..Starting node ..Paragangliomas 2 (C566646)
Child Nodes:
Sister Nodes:
..Carney-Stratakis Syndrome (C564650)
..Paraganglioma, Extra-Adrenal (D010236) 6
..Paragangliomas 2 (C566646)
..Paragangliomas 3 (C565335)
..PARAGANGLIOMAS 4 (OMIM:115310)
..PARAGANGLIOMAS 5 (OMIM:614165)
..Paragangliomas with Sensorineural Hearing Loss (C566831)
..Pheochromocytoma (D010673) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9480

Name:

Paragangliomas 2

Definition:

Alternative IDs:

OMIM:601650

ParentIDs:

MESH:D009386|MESH:D010235

TreeNumbers:

C04.557.465.625.650.700/C566646 |C04.557.580.625.650.700/C566646 |C04.700/C566646 |C16.320.700/C566646

Synonyms:

Glomus Tumors, Familial, 2 |PGL2

Slim Mappings:

Cancer|Genetic disease (inborn)

Reference:

MedGen: C566646
MeSH: C566646
OMIM: 601650;
MSeqDR :
Genes: SDHAF2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0030074	Chemodectoma
4	HP:0006824	Cranial nerve paralysis
5	HP:0003001	Glomus jugular tumor
6	HP:0006715	Glomus tympanicum paraganglioma
7	HP:0001609	Hoarse voice
8	HP:0001686	Loss of voice
9	HP:0008629	Pulsatile tinnitus
10	HP:0002886	Vagal paraganglioma
11	HP:0001605	Vocal cord paralysis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)	54949	SDHAF2	Uncertain significance	-1	RCV003472632;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61197623	61197623		-
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)	54949	SDHAF2	Uncertain significance	778449586	RCV000801877\|RCV001010273\|RCV003472368;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61197629	61197629	11:g.61197629C>G	-
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)	54949	SDHAF2	Conflicting interpretations of pathogenicity	1554983610	RCV000547322\|RCV002255443\|RCV003476258;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61197643	61197643	11:g.61197643A>G	ClinGen:CA380680194	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu)	54949	SDHAF2	Likely benign	148425779	RCV000540123\|RCV000567200\|RCV001530643\|RCV002497118;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61197650	61197650	11:g.61197650C>T	ClinGen:CA058473	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)	54949	SDHAF2	Uncertain significance	-1	RCV002790668\|RCV003375693\|RCV003475422;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61197654	61197654		-
NM_017841.4(SDHAF2):c.36+10G>A	54949	SDHAF2	Benign/Likely benign	114207859	RCV000228443\|RCV000254091\|RCV002500807;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN169374\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61197664	61197664	11:g.61197664G>A	ClinGen:CA058576	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.37-1G>C	54949	SDHAF2	Pathogenic/Likely pathogenic	761956866	RCV000994638\|RCV001238114\|RCV001784526\|RCV002346199;	N	MedGen:C3661900\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	61205096	61205096	11:g.61205096G>C	-
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs)	54949	SDHAF2	Likely pathogenic	1862009020	RCV001262451;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205098	61205101	11:g.61205098_61205101del	-
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)	54949	SDHAF2	Uncertain significance	-1	RCV003472633;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205099	61205099		-
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)	54949	SDHAF2	Uncertain significance	200911550	RCV000034763\|RCV000568645\|RCV000687293\|RCV003473261;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205112	61205112	11:g.61205112A>G	ClinGen:CA017332	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)	54949	SDHAF2	Uncertain significance	-1	RCV003472631;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205131	61205131		-
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)	54949	SDHAF2	Uncertain significance	952830677	RCV001223024\|RCV003163731\|RCV003473778;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205156	61205156	11:g.61205156A>T	-
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)	54949	SDHAF2	Uncertain significance	111402137	RCV000566506\|RCV000703323\|RCV003471907;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205199	61205199	11:g.61205199A>G	ClinGen:CA057795	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)	54949	SDHAF2	Uncertain significance	-1	RCV003472634;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205233	61205233		-
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)	54949	SDHAF2	Uncertain significance	371977724	RCV001909973\|RCV002423019\|RCV003318701\|RCV003475162;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205256	61205256	61205256	-
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)	54949	SDHAF2	Uncertain significance	1862011610	RCV002026347\|RCV002423263\|RCV003475291;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205259	61205259	61205259	-
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)	54949	SDHAF2	Uncertain significance	532255760	RCV000219985\|RCV000468611\|RCV002298531\|RCV003444221;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:C3661900\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205265	61205265	11:g.61205265C>T	ClinGen:CA057946	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)	54949	SDHAF2	Uncertain significance	753474292	RCV000222477\|RCV000792983\|RCV001800552\|RCV002503868;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MedGen:CN169374\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205266	61205266	11:g.61205266G>A	ClinGen:CA057958	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)	54949	SDHAF2	Uncertain significance	1060503389	RCV000472498\|RCV000573339\|RCV003476103;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205281	61205281	NC_000011.9:g.61205281G>A	ClinGen:CA16613651	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)	54949	SDHAF2	Pathogenic/Likely pathogenic	1336819076	RCV001999776\|RCV003475212;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205287	61205288	61205286	-
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)	54949	SDHAF2	Pathogenic	113560320	RCV000000428\|RCV000165971\|RCV000519058\|RCV000639339;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072	11	61205292	61205292	11:g.61205292G>A	ClinGen:CA017320,UniProtKB:Q9NX18#VAR_058705,OMIM:613019.0001	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)	54949	SDHAF2	not provided	-1	RCV003319153;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205292	61205292		-
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)	54949	SDHAF2	Uncertain significance	781702725	RCV001015284\|RCV001211466\|RCV003473576;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205295	61205295	11:g.61205295A>G	-
NM_017841.4(SDHAF2):c.260+3A>G	54949	SDHAF2	Conflicting interpretations of pathogenicity	1445986287	RCV000571706\|RCV001035689\|RCV003471908;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205323	61205323	11:g.61205323A>G	ClinGen:CA658658063	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.261-42G>A	54949	SDHAF2	Benign	879647	RCV000248502\|RCV001651225\|RCV001807190;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205434	61205434	NC_000011.9:g.61205434G>A	ClinGen:CA058276	CN169374 not specified;
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)	54949	SDHAF2	Likely pathogenic	-1	RCV003472635;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205516	61205516		-
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)	54949	SDHAF2	Conflicting interpretations of pathogenicity	753554501	RCV000639336\|RCV001018326\|RCV001766368\|RCV003472006;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205520	61205521	NC_000011.9:g.61205520_61205521insA	ClinGen:CA058404	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)	54949	SDHAF2	Uncertain significance	1485358364	RCV000556172\|RCV002323960\|RCV003476259;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205528	61205528	11:g.61205528T>A	ClinGen:CA380684128	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)	54949	SDHAF2	Conflicting interpretations of pathogenicity	535627239	RCV000529961\|RCV001019240\|RCV003153704\|RCV003476260;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205535	61205535	11:g.61205535G>A	ClinGen:CA058449	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)	54949	SDHAF2	Uncertain significance	779335034	RCV000700336\|RCV001019853\|RCV002509360\|RCV003475930;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205545	61205545	NC_000011.9:g.61205545C>A	ClinGen:CA10638833	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)	54949	SDHAF2	Uncertain significance	145616631	RCV000461728\|RCV001019980\|RCV003476105;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205546	61205546	NC_000011.9:g.61205546G>A	ClinGen:CA058486	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)	54949	SDHAF2	Conflicting interpretations of pathogenicity	747022200	RCV000697271\|RCV003472224\|RCV003153814;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	11	61205556	61205556	NC_000011.9:g.61205556A>G	-	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)	54949	SDHAF2	Conflicting interpretations of pathogenicity	1456129845	RCV000456060\|RCV000639340\|RCV002451059\|RCV003476021;	N	MedGen:CN169374\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205567	61205568	NC_000011.9:g.61205570dup	ClinGen:CA16609799	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val)	54949	SDHAF2	Uncertain significance	747994812	RCV001020532\|RCV001067015\|RCV001253131;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205567	61205567	11:g.61205567A>G	-
NM_017841.4(SDHAF2):c.370+4C>G	54949	SDHAF2	Uncertain significance	758935566	RCV000792882\|RCV002487647;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61205589	61205589	11:g.61205589C>G	-
NM_017841.4(SDHAF2):c.371-4G>C	54949	SDHAF2	Uncertain significance	-1	RCV003472636;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61213409	61213409		-
NM_017841.4(SDHAF2):c.371-2A>G	54949	SDHAF2	Conflicting interpretations of pathogenicity	375280597	RCV000467864\|RCV000566130\|RCV003476104;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61213411	61213411	NC_000011.9:g.61213411A>G	ClinGen:CA059030	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)	54949	SDHAF2	Uncertain significance	773580529	RCV000639348\|RCV002358808\|RCV003472008;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61213433	61213433	11:g.61213433A>T	ClinGen:CA059240	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)	54949	SDHAF2	Uncertain significance	367574730	RCV000807160\|RCV003472392\|RCV003380735;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	61213452	61213452	11:g.61213452T>A	-
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)	54949	SDHAF2	Uncertain significance	1056273933	RCV001947703\|RCV002334886\|RCV003475166;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61213496	61213496	61213496	-
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)	54949	SDHAF2	Uncertain significance	140920079	RCV000477172\|RCV000574855\|RCV002291637\|RCV003148750;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072\|MedGen:C3661900	11	61213518	61213518	NC_000011.9:g.61213518A>C	ClinGen:CA059412	C0027672 Hereditary cancer-predisposing syndrome;
NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)	54949	SDHAF2	Uncertain significance	-1	RCV003140419;	N	MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61213520	61213523	NC_000011.9:g.61213521_61213524del	-
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)	54949	SDHAF2	Uncertain significance	150187184	RCV000232071\|RCV002347911\|RCV003322764\|RCV003475832;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61213532	61213532	NC_000011.9:g.61213532A>G	ClinGen:CA059431	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His)	54949	SDHAF2	Conflicting interpretations of pathogenicity	768048172	RCV000543075\|RCV002341319\|RCV002497119;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011121,MedGen:C1866552,OMIM:601650, Orphanet:29072	11	61213539	61213539	11:g.61213539G>A	ClinGen:CA059440	C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes;

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