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: Adenoma (D000236)
Parent Node: Fibroma (D005350)
Parent Node: Hyperparathyroidism (D006961)
Parent Node: Jaw Neoplasms (D007573)
..Starting node ..Hyperparathyroidism 2 (C563273)
Child Nodes:
Sister Nodes:
..Gigantiform Cementoma, Familial (C563017)
..Hyperparathyroidism 2 (C563273)
..Mandibular Neoplasms (D008339) 1
..Maxillary Neoplasms (D008441)
..Palatal Neoplasms (D010157)
..Parathyroid Adenomatosis, Familial Cystic (C564165)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

5924

Name:

Hyperparathyroidism 2

Definition:

Alternative IDs:

OMIM:145001

ParentIDs:

MESH:D000236|MESH:D005350|MESH:D006961|MESH:D007573

TreeNumbers:

C04.557.450.565.590.340/C563273 |C04.557.470.035/C563273 |C04.588.149.721.450/C563273 |C05.116.231.754.450/C563273 |C05.500.499/C563273 |C07.320.515/C563273 |C19.642.355/C563273

Synonyms:

Slim Mappings:

Cancer|Endocrine system disease|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C563273
MeSH: C563273
OMIM: 145001;
MSeqDR :
Genes: CDC73; TBX4;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000234	Abnormality of the head
3	HP:0010566	Hamartoma
4	HP:0006781	Hurthle cell thyroid adenoma
5	HP:0003072	Hypercalcemia
6	HP:0000843	Hyperparathyroidism
7	HP:0002667	Nephroblastoma
8	HP:0000787	Nephrolithiasis
9	HP:0006725	Pancreatic adenocarcinoma
10	HP:0006766	Papillary renal cell carcinoma
11	HP:0002897	Parathyroid adenoma
12	HP:0006780	Parathyroid carcinoma
13	HP:0000113	Polycystic kidney dysplasia
14	HP:0100027	Recurrent pancreatitis
15	HP:0006735	Renal cortical adenoma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp)	-1	B3GALT2;CDC73	Likely benign	rs41265203	RCV000211442;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193150326	193150326	A	C	1:g.193150326A>C	ClinGen:CA1303641	C1704981 145001 Hyperparathyroidism 2;
NM_024529.4(CDC73):c.-190G>C	79577	CDC73	Uncertain significance	rs886045709	RCV000277791\|RCV000332906\|RCV000367696;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193091141	193091141	G	C	NC_000001.10:g.193091141G>C	ClinGen:CA10608636	C1704981 145001 Hyperparathyroidism 2;
NM_024529.4(CDC73):c.-186C>G	79577	CDC73	Uncertain significance	rs886045710	RCV000269708\|RCV000329460\|RCV000382790;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193091145	193091145	C	G	NC_000001.10:g.193091145C>G	ClinGen:CA10608621	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-167A>G	79577	CDC73	Uncertain significance	rs1156904196	RCV001101085\|RCV001101086\|RCV001101087;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193091164	193091164	A	G	1:g.193091164A>G	-
NM_024529.5(CDC73):c.-143G>C	79577	CDC73	Uncertain significance	rs778446879	RCV000284491\|RCV000340081\|RCV000384069;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193091188	193091188	G	C	NC_000001.10:g.193091188G>C	ClinGen:CA10608622	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-135C>T	79577	CDC73	Uncertain significance	rs1675456932	RCV001097346\|RCV001097345\|RCV001097344;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193091196	193091196	C	T	1:g.193091196C>T	-
NM_024529.5(CDC73):c.-121G>A	79577	CDC73	Uncertain significance	rs886045711	RCV000336522\|RCV000286159\|RCV000380595;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193091210	193091210	G	A	NC_000001.10:g.193091210G>A	ClinGen:CA10608623	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-95G>A	79577	CDC73	Benign/Likely benign	rs143969598	RCV000282469\|RCV000337618\|RCV000394738;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193091236	193091236	G	A	1:g.193091236G>A	ClinGen:CA10608624	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-30C>T	79577	CDC73	Uncertain significance	rs770313192	RCV000314585\|RCV000394731\|RCV000369313;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193091301	193091301	C	T	1:g.193091301C>T	ClinGen:CA1303218	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-4dup	79577	CDC73	Conflicting interpretations of pathogenicity	rs545666726	RCV000265031\|RCV000306228\|RCV000365849\|RCV000401688\|RCV000587300\|RCV001023396\|RCV001764251;	N	MedGen:CN169374\|MedGen:CN239442\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027	1	193091319	193091320	A	AG	1:g.193091319_193091320insG	ClinGen:CA1303226	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-11G>A	79577	CDC73	Conflicting interpretations of pathogenicity	rs80356643	RCV000020878\|RCV001099195\|RCV001099099;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193091320	193091320	G	A	1:g.193091320G>A	ClinGen:CA342364	C0687150 608266 Parathyroid carcinoma;
NM_024529.5(CDC73):c.-10G>T	79577	CDC73	Benign/Likely benign	rs188082584	RCV000247723\|RCV000271289\|RCV000321566\|RCV000357702\|RCV000590347;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MedGen:CN51720	1	193091321	193091321	G	T	NC_000001.10:g.193091321G>T	ClinGen:CA1303232	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.3G>A (p.Met1Ile)	79577	CDC73	Pathogenic	rs28942098	RCV000003424;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193091333	193091333	G	A	1:g.193091333G>A	ClinGen:CA252641,OMIM:607393.0001	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)	79577	CDC73	Pathogenic	rs121434262	RCV000003425;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193091355	193091355	C	T	1:g.193091355C>T	ClinGen:CA252644,OMIM:607393.0002	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.33C>T (p.Tyr11=)	79577	CDC73	Benign/Likely benign	rs150951102	RCV000267832\|RCV000232276\|RCV000372976\|RCV001020200\|RCV001729478\|RCV000858076;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0015356,MeSH:D0093	1	193091363	193091363	C	T	1:g.193091363C>T	ClinGen:CA1303246	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.156A>G (p.Arg52=)	79577	CDC73	Uncertain significance	rs886045712	RCV000319509\|RCV000278443\|RCV000374190;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193094266	193094266	A	G	1:g.193094266A>G	ClinGen:CA10609140	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.201G>A (p.Val67=)	79577	CDC73	Conflicting interpretations of pathogenicity	rs752298916	RCV000292768\|RCV000350018\|RCV000405673\|RCV001014111;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0015356,MeSH:D0093	1	193094311	193094311	G	A	1:g.193094311G>A	ClinGen:CA1303282	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.238-1G>A	79577	CDC73	Pathogenic	rs587776559	RCV000003440;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193099303	193099303	G	A	1:g.193099303G>A	ClinGen:CA252656,OMIM:607393.0013	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.534A>G (p.Ser178=)	79577	CDC73	Conflicting interpretations of pathogenicity	rs150365980	RCV000609211\|RCV000638125\|RCV001097444\|RCV001101193;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193111001	193111001	A	G	1:g.193111001A>G	ClinGen:CA1303421	CN169374 not specified;
NM_024529.5(CDC73):c.659T>C (p.Val220Ala)	79577	CDC73	Uncertain significance	rs886045713	RCV000296231\|RCV000344041\|RCV000397786;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193111126	193111126	T	C	1:g.193111126T>C	ClinGen:CA10608625	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)	79577	CDC73	Pathogenic	rs80356649	RCV000003427\|RCV000003428\|RCV000664206;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193111146	193111147	A	AAG	1:g.193111146_193111147insAG	ClinGen:CA252647,OMIM:607393.0004	C1840402 145000 Hyperparathyroidism 1;
NM_024529.5(CDC73):c.834C>T (p.Pro278=)	79577	CDC73	Uncertain significance	rs886045714	RCV000308918\|RCV000365879\|RCV000399415;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193119439	193119439	C	T	1:g.193119439C>T	ClinGen:CA10609204	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.840G>A (p.Leu280=)	79577	CDC73	Likely benign	rs10921320	RCV000232164\|RCV000267580\|RCV000303106;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193119445	193119445	G	A	NC_000001.10:g.193119445G>A	ClinGen:CA1303482	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)	79577	CDC73	Uncertain significance	rs149875598	RCV000468059\|RCV001019869\|RCV001543130;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193172941	193172941	G	A	NC_000001.10:g.193172941G>A	ClinGen:CA1303709	C0687150 608266 Parathyroid carcinoma;
NM_024529.5(CDC73):c.1032T>G (p.Val344=)	79577	CDC73	Benign/Likely benign	rs148612206	RCV000234138\|RCV000261802\|RCV000315634\|RCV000441371\|RCV001009738;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MedGen:CN517202\|MONDO:MONDO:00	1	193181196	193181196	T	G	1:g.193181196T>G	ClinGen:CA1303742	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.1066+8T>C	79577	CDC73	Likely benign	rs80356647	RCV000020879\|RCV000211486;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193181238	193181238	T	C	1:g.193181238T>C	ClinGen:CA342365	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile)	79577	CDC73	Uncertain significance	rs1677756402	RCV001099300\|RCV001099299\|RCV001099301;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193205393	193205393	G	A	1:g.193205393G>A	-
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)	79577	CDC73	Uncertain significance	rs368442389	RCV000228358\|RCV001011102\|RCV001099302\|RCV001101291\|RCV001580090;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C	1	193205402	193205402	G	A	NC_000001.10:g.193205402G>A	ClinGen:CA1303837	C0687150 608266 Parathyroid carcinoma;
NM_024529.5(CDC73):c.1417+9C>T	79577	CDC73	Conflicting interpretations of pathogenicity	rs769784756	RCV000293572\|RCV000319340\|RCV000385428;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193205495	193205495	C	T	1:g.193205495C>T	ClinGen:CA1303841	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.1418-10C>G	79577	CDC73	Conflicting interpretations of pathogenicity	rs768713729	RCV000289549\|RCV000334014\|RCV000381579;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193218850	193218850	C	G	1:g.193218850C>G	ClinGen:CA1303865	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*12C>A	79577	CDC73	Likely benign	rs193025205	RCV000206613\|RCV000346877\|RCV000385126\|RCV000438721\|RCV000514805;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MedGen:CN169374\|MedGen:CN51720	1	193219854	193219854	C	A	1:g.193219854C>A	ClinGen:CA350625	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*94A>G	79577	CDC73	Uncertain significance	rs547969893	RCV000306172\|RCV000340727\|RCV000396853;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193219936	193219936	A	G	1:g.193219936A>G	ClinGen:CA10608626	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*244T>A	79577	CDC73	Uncertain significance	rs1678034707	RCV001095847\|RCV001095849\|RCV001095848;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193220086	193220086	T	A	1:g.193220086T>A	-
NM_024529.5(CDC73):c.*298A>T	79577	CDC73	Uncertain significance	rs1678035186	RCV001097647\|RCV001097648\|RCV001097649;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193220140	193220140	A	T	1:g.193220140A>T	-
NM_024529.5(CDC73):c.*453A>C	79577	CDC73	Uncertain significance	rs547363180	RCV000300277\|RCV000335432\|RCV000396865;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193220295	193220295	A	C	1:g.193220295A>C	ClinGen:CA10609205	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*463A>G	79577	CDC73	Uncertain significance	rs879039427	RCV000274267\|RCV000313039\|RCV000357281;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193220305	193220305	A	G	1:g.193220305A>G	ClinGen:CA10609143	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*518A>G	79577	CDC73	Benign/Likely benign	rs190433473	RCV000324994\|RCV000276988\|RCV000370080;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193220360	193220360	A	G	1:g.193220360A>G	ClinGen:CA10609145	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*580A>T	79577	CDC73	Benign/Likely benign	rs191600804	RCV000271062\|RCV000328626\|RCV000381885;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193220422	193220422	A	T	1:g.193220422A>T	ClinGen:CA10608639	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*683G>A	79577	CDC73	Uncertain significance	rs905879297	RCV001099411\|RCV001101400\|RCV001101401;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193220525	193220525	G	A	1:g.193220525G>A	-
NM_024529.5(CDC73):c.*937G>A	79577	CDC73	Uncertain significance	rs886045715	RCV000341496\|RCV000284170\|RCV000376322;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193220779	193220779	G	A	1:g.193220779G>A	ClinGen:CA10609149	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*948C>T	79577	CDC73	Uncertain significance	rs761544591	RCV001101402\|RCV001101404\|RCV001101403;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193220790	193220790	C	T	1:g.193220790C>T	-
NM_024529.5(CDC73):c.*956T>C	79577	CDC73	Uncertain significance	rs886045716	RCV000278362\|RCV000335814\|RCV000379827;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193220798	193220798	T	C	1:g.193220798T>C	ClinGen:CA10609152	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*972A>G	79577	CDC73	Uncertain significance	rs886045717	RCV000301082\|RCV000348913\|RCV000393273;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193220814	193220814	A	G	1:g.193220814A>G	ClinGen:CA10609206	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1056A>C	79577	CDC73	Uncertain significance	rs548106852	RCV000313882\|RCV000362612\|RCV000393290;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193220898	193220898	A	C	1:g.193220898A>C	ClinGen:CA10608631	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1074A>T	79577	CDC73	Uncertain significance	rs886045718	RCV000270300\|RCV000309136\|RCV000366082;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MedGen:CN239442	1	193220916	193220916	A	T	1:g.193220916A>T	ClinGen:CA10608640	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1075A>G	79577	CDC73	Uncertain significance	rs886045719	RCV000321719\|RCV000264254\|RCV000378712;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193220917	193220917	A	G	NC_000001.10:g.193220917A>G	ClinGen:CA10609207	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1083A>T	79577	CDC73	Benign/Likely benign	rs367704451	RCV000267945\|RCV000315729\|RCV000372648;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193220925	193220925	A	T	NC_000001.10:g.193220925A>T	ClinGen:CA10609153	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1092A>G	79577	CDC73	Uncertain significance	rs886045720	RCV000280395\|RCV000319112\|RCV000385493;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193220934	193220934	A	G	NC_000001.10:g.193220934A>G	ClinGen:CA10609209	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1144dup	79577	CDC73	Uncertain significance	rs538761780	RCV000293464\|RCV000350850\|RCV000403456;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MedGen:CN239442\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193220974	193220975	G	GT	NC_000001.10:g.193220986dup	ClinGen:CA10609154	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1132G>T	79577	CDC73	Uncertain significance	rs1017988008	RCV001099519\|RCV001099518\|RCV001099517;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193220974	193220974	G	T	1:g.193220974G>T	-
NM_024529.5(CDC73):c.*1144del	79577	CDC73	Uncertain significance	rs538761780	RCV000288337\|RCV000345682\|RCV000397898;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MedGen:CN239442	1	193220975	193220975	GT	G	NC_000001.10:g.193220986del	ClinGen:CA10609212	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1251A>G	79577	CDC73	Uncertain significance	rs550417983	RCV000310464\|RCV000358230\|RCV000397900;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193221093	193221093	A	G	NC_000001.10:g.193221093A>G	ClinGen:CA10608632	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1267A>G	79577	CDC73	Benign/Likely benign	rs78218016	RCV000260300\|RCV000304477\|RCV000361563\|RCV001797075;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MedGen:CN517202	1	193221109	193221109	A	G	NC_000001.10:g.193221109A>G	ClinGen:CA10609155	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1292C>T	79577	CDC73	Uncertain significance	rs895043816	RCV001101501\|RCV001101502\|RCV001101503;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221134	193221134	C	T	1:g.193221134C>T	-
NM_024529.5(CDC73):c.*1296C>G	79577	CDC73	Uncertain significance	rs1269411417	RCV001096057\|RCV001101504\|RCV001101505;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193221138	193221138	C	G	1:g.193221138C>G	-
NM_024529.5(CDC73):c.*1303A>G	79577	CDC73	Uncertain significance	rs886045723	RCV000263905\|RCV000317786\|RCV000356304;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221145	193221145	A	G	NC_000001.10:g.193221145A>G	ClinGen:CA10609213	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1365T>C	79577	CDC73	Uncertain significance	rs180929933	RCV000295577\|RCV000330484\|RCV000387343;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193221207	193221207	T	C	NC_000001.10:g.193221207T>C	ClinGen:CA10609156	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1442C>T	79577	CDC73	Uncertain significance	rs1678053550	RCV001096058\|RCV001097820\|RCV001097821;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193221284	193221284	C	T	1:g.193221284C>T	-
NM_024529.5(CDC73):c.*1472T>G	79577	CDC73	Uncertain significance	rs576716003	RCV000334158\|RCV000289890\|RCV000381978;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193221314	193221314	T	G	NC_000001.10:g.193221314T>G	ClinGen:CA10609157	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1499T>A	79577	CDC73	Conflicting interpretations of pathogenicity	rs138503809	RCV000284081\|RCV000347066\|RCV000403103;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193221341	193221341	T	A	NC_000001.10:g.193221341T>A	ClinGen:CA10609214	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1535A>G	79577	CDC73	Uncertain significance	rs1011765527	RCV001099625\|RCV001099627\|RCV001099626;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193221377	193221377	A	G	1:g.193221377A>G	-
NM_024529.5(CDC73):c.*1599A>G	79577	CDC73	Uncertain significance	rs543573271	RCV000297115\|RCV000341383\|RCV000397053;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221441	193221441	A	G	NC_000001.10:g.193221441A>G	ClinGen:CA10609215	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1644C>T	79577	CDC73	Uncertain significance	rs764317616	RCV001099628\|RCV001099629\|RCV001101601;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193221486	193221486	C	T	1:g.193221486C>T	-
NM_024529.5(CDC73):c.*1660A>G	79577	CDC73	Uncertain significance	rs1310867519	RCV001101602\|RCV001101603\|RCV001101604;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221502	193221502	A	G	1:g.193221502A>G	-
NM_024529.5(CDC73):c.*1761T>C	79577	CDC73	Uncertain significance	rs528066706	RCV000302338\|RCV000354371\|RCV000397046;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221603	193221603	T	C	NC_000001.10:g.193221603T>C	ClinGen:CA10608633	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1787A>G	79577	CDC73	Uncertain significance	rs747621423	RCV000271689\|RCV000326742\|RCV000366333;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221629	193221629	A	G	NC_000001.10:g.193221629A>G	ClinGen:CA10608634	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1789G>A	79577	CDC73	Uncertain significance	rs1323646186	RCV001096180\|RCV001096181\|RCV001096182;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193221631	193221631	G	A	1:g.193221631G>A	-
NM_024529.5(CDC73):c.*1821G>T	79577	CDC73	Uncertain significance	rs1678060916	RCV001096183\|RCV001096184\|RCV001096185;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221663	193221663	G	T	1:g.193221663G>T	-
NM_024529.5(CDC73):c.*1833A>G	79577	CDC73	Conflicting interpretations of pathogenicity	rs150894778	RCV000277534\|RCV000332402\|RCV000362691;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193221675	193221675	A	G	NC_000001.10:g.193221675A>G	ClinGen:CA10609216	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1858C>G	79577	CDC73	Uncertain significance	rs886045724	RCV000319619\|RCV000273875\|RCV000386882;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193221700	193221700	C	G	NC_000001.10:g.193221700C>G	ClinGen:CA10608641	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1956T>C	79577	CDC73	Uncertain significance	rs886045725	RCV000279730\|RCV000334775\|RCV000374030;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221798	193221798	T	C	NC_000001.10:g.193221798T>C	ClinGen:CA10609158	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1985T>A	79577	CDC73	Uncertain significance	rs886045726	RCV000340223\|RCV000285164\|RCV000379951;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193221827	193221827	T	A	NC_000001.10:g.193221827T>A	ClinGen:CA10608643	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2043A>T	79577	CDC73	Uncertain significance	rs886045727	RCV000346096\|RCV000309837\|RCV000405098;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221885	193221885	A	T	NC_000001.10:g.193221885A>T	ClinGen:CA10608637	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2085G>C	79577	CDC73	Benign/Likely benign	rs150030810	RCV000306467\|RCV000370516\|RCV000396311;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193221927	193221927	G	C	NC_000001.10:g.193221927G>C	ClinGen:CA10609217	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2131A>T	79577	CDC73	Uncertain significance	rs886045728	RCV000275359\|RCV000311731\|RCV000357189;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193221973	193221973	A	T	NC_000001.10:g.193221973A>T	ClinGen:CA10608638	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2304T>G	79577	CDC73	Benign/Likely benign	rs144363422	RCV000262372\|RCV000317449\|RCV000372114;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193222146	193222146	T	G	NC_000001.10:g.193222146T>G	ClinGen:CA10608644	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2420A>C	79577	CDC73	Uncertain significance	rs536960020	RCV000323229\|RCV000268198\|RCV000378280;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193222262	193222262	A	C	NC_000001.10:g.193222262A>C	ClinGen:CA10609220	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2427T>C	79577	CDC73	Benign/Likely benign	rs372585994	RCV000283774\|RCV000348161\|RCV000384130;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193222269	193222269	T	C	NC_000001.10:g.193222269T>C	ClinGen:CA10608645	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2446C>T	79577	CDC73	Uncertain significance	rs572307472	RCV000344674\|RCV000289753\|RCV000404182;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193222288	193222288	C	T	NC_000001.10:g.193222288C>T	ClinGen:CA10609159	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2455C>T	79577	CDC73	Uncertain significance	rs886045729	RCV000349496\|RCV000314304\|RCV000397784;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193222297	193222297	C	T	NC_000001.10:g.193222297C>T	ClinGen:CA10609221	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2625A>G	79577	CDC73	Uncertain significance	rs531872328	RCV001098025\|RCV001098026\|RCV001098027;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193222467	193222467	A	G	1:g.193222467A>G	-
NM_024529.5(CDC73):c.*2639C>G	79577	CDC73	Uncertain significance	rs1361287206	RCV001098028\|RCV001099800\|RCV001099801;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193222481	193222481	C	G	1:g.193222481C>G	-
NM_024529.5(CDC73):c.*2651T>G	79577	CDC73	Uncertain significance	rs886045730	RCV000260544\|RCV000300501\|RCV000355299;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193222493	193222493	T	G	NC_000001.10:g.193222493T>G	ClinGen:CA10608646	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2677G>A	79577	CDC73	Benign/Likely benign	rs192018514	RCV000267193\|RCV000297048\|RCV000361179;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193222519	193222519	G	A	1:g.193222519G>A	ClinGen:CA10609229	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2801A>G	79577	CDC73	Uncertain significance	rs999015399	RCV001101792\|RCV001101790\|RCV001101791;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193222643	193222643	A	G	1:g.193222643A>G	-
NM_024529.5(CDC73):c.*2950A>G	79577	CDC73	Benign	rs144681513	RCV000322234\|RCV000272930\|RCV000358334;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193222792	193222792	A	G	1:g.193222792A>G	ClinGen:CA10609234	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2962T>C	79577	CDC73	Uncertain significance	rs147904515	RCV000328058\|RCV000288045\|RCV000382506;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193222804	193222804	T	C	1:g.193222804T>C	ClinGen:CA10609160	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2963A>G	79577	CDC73	Uncertain significance	rs886045731	RCV000292579\|RCV000333842\|RCV000388262;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193222805	193222805	A	G	1:g.193222805A>G	ClinGen:CA10609237	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2982T>C	79577	CDC73	Uncertain significance	rs886045732	RCV000279518\|RCV000338244\|RCV000401923;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193222824	193222824	T	C	1:g.193222824T>C	ClinGen:CA10608642	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3063G>A	79577	CDC73	Benign/Likely benign	rs182545034	RCV001096372\|RCV001098116\|RCV001098117;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193222905	193222905	G	A	1:g.193222905G>A	-
NM_024529.5(CDC73):c.*3086C>T	79577	CDC73	Uncertain significance	rs886045733	RCV000334822\|RCV000304353\|RCV000395827;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193222928	193222928	C	T	1:g.193222928C>T	ClinGen:CA10608647	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3257A>G	79577	CDC73	Uncertain significance	rs886045734	RCV000309752\|RCV000359156\|RCV000395825;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223099	193223099	A	G	1:g.193223099A>G	ClinGen:CA10608648	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3266A>G	79577	CDC73	Uncertain significance	rs532839308	RCV000269978\|RCV000325071\|RCV000364555;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193223108	193223108	A	G	1:g.193223108A>G	ClinGen:CA10608651	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3342G>A	79577	CDC73	Uncertain significance	rs1174982740	RCV001099899\|RCV001099900\|RCV001099901;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193223184	193223184	G	A	1:g.193223184G>A	-
NM_024529.5(CDC73):c.3409_3410del	79577	CDC73	Uncertain significance	rs886045735	RCV000276053\|RCV000331090\|RCV000370409;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MedGen:CN239442	1	193223248	193223249	CTT	C	1:g.193223248_193223249del	ClinGen:CA10609161	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3419T>A	79577	CDC73	Uncertain significance	rs566373225	RCV000318663\|RCV000282420\|RCV000386117;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223261	193223261	T	A	1:g.193223261T>A	ClinGen:CA10608652	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3507G>T	79577	CDC73	Benign	rs151216299	RCV000278652\|RCV000343005\|RCV000373333;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193223349	193223349	G	T	1:g.193223349G>T	ClinGen:CA10609162	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3524A>G	79577	CDC73	Benign/Likely benign	rs548190260	RCV000284606\|RCV000339977\|RCV000406259;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193223366	193223366	A	G	1:g.193223366A>G	ClinGen:CA10609163	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3542A>G	79577	CDC73	Uncertain significance	rs886045736	RCV000309474\|RCV000364138\|RCV000406643;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223384	193223384	A	G	1:g.193223384A>G	ClinGen:CA10609241	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3641G>A	79577	CDC73	Likely benign	rs565579791	RCV000315585\|RCV000370143\|RCV000395636;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MedGen:CN239442\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223483	193223483	G	A	1:g.193223483G>A	ClinGen:CA10609242	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3695C>G	79577	CDC73	Uncertain significance	rs1678098304	RCV001096473\|RCV001096475\|RCV001096474;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223537	193223537	C	G	1:g.193223537C>G	-
NM_024529.5(CDC73):c.*3714T>C	79577	CDC73	Uncertain significance	rs886045737	RCV000275634\|RCV000300431\|RCV000355236;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223556	193223556	T	C	1:g.193223556T>C	ClinGen:CA10608655	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3783C>T	79577	CDC73	Uncertain significance	rs1337028451	RCV001098222\|RCV001098221\|RCV001098223;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223625	193223625	C	T	1:g.193223625C>T	-
NM_024529.5(CDC73):c.*3785A>G	79577	CDC73	Uncertain significance	rs886045738	RCV000315705\|RCV000260463\|RCV000379686;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MedGen:CN239442\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223627	193223627	A	G	1:g.193223627A>G	ClinGen:CA10609164	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3786T>A	79577	CDC73	Benign	rs74130943	RCV000268424\|RCV000321158\|RCV000378106;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223628	193223628	T	A	1:g.193223628T>A	ClinGen:CA10608658	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3786T>C	79577	CDC73	Benign/Likely benign	rs74130943	RCV000347922\|RCV000290572\|RCV000381409;	N	MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223628	193223628	T	C	1:g.193223628T>C	ClinGen:CA10608659	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3791T>C	79577	CDC73	Uncertain significance	rs886045739	RCV000351182\|RCV000289402\|RCV000405290;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143	1	193223633	193223633	T	C	NC_000001.10:g.193223633T>C	ClinGen:CA10609243	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3808TTG[1]	79577	CDC73	Likely benign	rs143131672	RCV000350099\|RCV000311559\|RCV000397718;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MedGen:CN239442\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	193223650	193223652	TTTG	T	NC_000001.10:g.193223650TTG[1]	ClinGen:CA10608649	C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3875A>G	79577	CDC73	Uncertain significance	rs1678100975	RCV001099992\|RCV001099991\|RCV001099993;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193223717	193223717	A	G	1:g.193223717A>G	-
NM_024529.5(CDC73):c.*3887G>T	79577	CDC73	Uncertain significance	rs1678101144	RCV001099994\|RCV001101984\|RCV001101985;	N	Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143\|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880\|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879	1	193223729	193223729	G	T	1:g.193223729G>T	-
Single allele	-1	covers 20 genes, none of which	Pathogenic	-1	RCV000677958;	N	MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879; Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143; MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880	1	191888324	194584888	na	na		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;

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