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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: Abnormalities, Multiple (D000015)
Parent Node: Hair Diseases (D006201)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Monilethrix (D056734)
Child Nodes:
........Trueb Burg Bottani syndrome (C536565)
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..Dowling-Degos Disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144 C:1
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8153

Name:

Monilethrix

Definition:

Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.

Alternative IDs:

DO:DOID:0050472|OMIM:158000

ParentIDs:

MESH:D000015|MESH:D006201|MESH:D012873

TreeNumbers:

C16.131.077.592 |C16.320.850.647 |C17.800.329.984 |C17.800.827.602

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: D056734
MeSH: D056734
OMIM: 158000;
MSeqDR :
Genes: KRT81; KRT83; KRT86;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0011830	Abnormal oral mucosa morphology	HP:0040283
4	HP:0001939	Abnormality of metabolism/homeostasis
5	HP:0002086	Abnormality of the respiratory system	HP:0040283
6	HP:0001596	Alopecia
7	HP:0200064	Asymmetry of iris pigmentation	HP:0040283
8	HP:0000498	Blepharitis	HP:0040283
9	HP:0002299	Brittle hair
10	HP:0000501	Glaucoma	HP:0040283
11	HP:0001425	Heterogeneous
12	HP:0011886	Hyphema	HP:0040283
13	HP:0001006	Hypotrichosis
14	HP:0001101	Iritis	HP:0040283
15	HP:0007565	Multiple cafe-au-lait spots	HP:0040283
16	HP:0005547	Myeloproliferative disorder	HP:0040283
17	HP:0002164	Nail dysplasia
18	HP:0008404	Nail dystrophy
19	HP:0007468	Perifollicular hyperkeratosis
20	HP:0000520	Proptosis	HP:0040283
21	HP:0000554	Uveitis	HP:0040283
22	HP:0003828	Variable expressivity
23	HP:0000572	Visual loss	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)	3887	KRT81	Pathogenic	rs57419521	RCV000007930\|RCV000056952;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52680896	52680896	12:g.52680896C>T	ClinGen:CA118850,UniProtKB:Q14533#VAR_018117,OMIM:602153.0001	C0546966 158000 Beaded hair;
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)	3887	KRT81	Pathogenic	rs56821304	RCV000007931\|RCV000056951;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52680929	52680929	12:g.52680929C>T	ClinGen:CA118851,UniProtKB:Q14533#VAR_018116,OMIM:602153.0002	C0546966 158000 Beaded hair;
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)	3887	KRT81	Conflicting interpretations of pathogenicity	rs138597671	RCV000680028;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52681822	52681822	12:g.52681822A>T	-	C0546966 158000 Beaded hair;
NM_002281.4(KRT81):c.735+4C>T	3887	KRT81	Benign	rs12812669	RCV000056953\|RCV002504956;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52682141	52682141	12:g.52682141G>A	ClinGen:CA217287	CN517202 not provided;
NM_002281.4(KRT81):c.2T>G (p.Met1Arg)	3887	KRT81	Uncertain significance	-1	RCV003131411;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52685248	52685248	NC_000012.11:g.52685248A>C	-
NM_002282.3(KRT83):c.*324del	3889	KRT83	Benign	rs11285858	RCV000303517;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708091	52708091	NC_000012.11:g.52708094del	ClinGen:CA10642723	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.*268A>C	3889	KRT83	Uncertain significance	rs777492822	RCV001114700;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708147	52708147	12:g.52708147T>G	-
NM_002282.3(KRT83):c.*225C>T	3889	KRT83	Uncertain significance	rs886049620	RCV000356010;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708190	52708190	NC_000012.11:g.52708190G>A	ClinGen:CA10633170	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.206_207del	3889	KRT83	Likely benign	rs377671303	RCV000259475;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708208	52708209	NC_000012.11:g.52708208_52708209del	ClinGen:CA10641843	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.*174C>T	3889	KRT83	Benign	rs2852456	RCV000319289\|RCV001612980;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52708241	52708241	NC_000012.11:g.52708241G>A	ClinGen:CA10641844	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.*138C>T	3889	KRT83	Benign	rs2857672	RCV000373928\|RCV001597066;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52708277	52708277	NC_000012.11:g.52708277G>A	ClinGen:CA10642731	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.*135C>T	3889	KRT83	Uncertain significance	rs956056629	RCV001114701;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708280	52708280	12:g.52708280G>A	-
NM_002282.3(KRT83):c.*107T>G	3889	KRT83	Uncertain significance	rs771547026	RCV000274693;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708308	52708308	NC_000012.11:g.52708308A>C	ClinGen:CA10633171	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.*102T>G	3889	KRT83	Uncertain significance	rs955581900	RCV001109079;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708313	52708313	12:g.52708313A>C	-
NM_002282.3(KRT83):c.*60C>A	3889	KRT83	Uncertain significance	rs1938655369	RCV001109080;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708355	52708355	12:g.52708355G>T	-
NM_002282.3(KRT83):c.*44C>T	3889	KRT83	Uncertain significance	rs186532103	RCV000329684;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708371	52708371	NC_000012.11:g.52708371G>A	ClinGen:CA6577235	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.*23G>T	3889	KRT83	Benign	rs535186700	RCV000388907;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708392	52708392	NC_000012.11:g.52708392C>A	ClinGen:CA6577236	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1477C>T (p.His493Tyr)	3889	KRT83	Benign	rs2857671	RCV000294606\|RCV001675793;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52708420	52708420	NC_000012.11:g.52708420G>A	ClinGen:CA6577241,UniProtKB:P78385#VAR_018121	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1425C>T (p.Pro475=)	3889	KRT83	Uncertain significance	rs757638030	RCV001109081;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708472	52708472	12:g.52708472G>A	-
NM_002282.3(KRT83):c.1423C>T (p.Pro475Ser)	3889	KRT83	Benign	rs200232339	RCV000344825;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708474	52708474	NC_000012.11:g.52708474G>A	ClinGen:CA6577252	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1412G>A (p.Gly471Asp)	3889	KRT83	Benign	rs147359482	RCV000385165\|RCV002520813;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52708485	52708485	NC_000012.11:g.52708485C>T	ClinGen:CA6577254	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1398G>A (p.Leu466=)	3889	KRT83	Uncertain significance	rs748151673	RCV000290832;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708499	52708499	12:g.52708499C>T	ClinGen:CA6577259	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1356G>A (p.Pro452=)	3889	KRT83	Uncertain significance	rs764238442	RCV001111419;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708541	52708541	12:g.52708541C>T	-
NM_002282.3(KRT83):c.1338C>T (p.Cys446=)	3889	KRT83	Benign	rs11836080	RCV000341169;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708559	52708559	NC_000012.11:g.52708559G>A	ClinGen:CA6577276	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1332T>C (p.Asp444=)	3889	KRT83	Benign	rs2857670	RCV000404121\|RCV001675794;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52708565	52708565	NC_000012.11:g.52708565A>G	ClinGen:CA6577280	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1327G>A (p.Gly443Arg)	3889	KRT83	Benign	rs144061807	RCV001111420;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708570	52708570	12:g.52708570C>T	-
NM_002282.3(KRT83):c.1302C>A (p.Ser434Arg)	3889	KRT83	Likely benign	rs373203286	RCV001111421;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52708595	52708595	12:g.52708595G>T	-
NM_002282.3(KRT83):c.1268G>C (p.Cys423Ser)	3889	KRT83	Benign	rs148757217	RCV000306214\|RCV002522230;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52709122	52709122	NC_000012.11:g.52709122C>G	ClinGen:CA6577316	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys)	3889	KRT83	Pathogenic	rs1438087533	RCV000515129;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52709687	52709687	NC_000012.11:g.52709687C>T	ClinGen:CA384920263,OMIM:602765.0002	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)	3889	KRT83	Conflicting interpretations of pathogenicity	rs57802288	RCV000007239\|RCV000056954;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52709720	52709720	12:g.52709720C>T	ClinGen:CA118533,UniProtKB:P78385#VAR_023052,OMIM:602765.0001	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1100G>A (p.Ser367Asn)	3889	KRT83	Benign	rs528339841	RCV000342350;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52709839	52709839	NC_000012.11:g.52709839C>T	ClinGen:CA6577391	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1084G>A (p.Gly362Ser)	3889	KRT83	Benign	rs140635030	RCV000395624\|RCV002520814;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52709855	52709855	12:g.52709855C>T	ClinGen:CA6577396	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1059T>C (p.Ala353=)	3889	KRT83	Benign	rs2852468	RCV000297929\|RCV001660616;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52709880	52709880	12:g.52709880A>G	ClinGen:CA6577403	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1056A>G (p.Glu352=)	3889	KRT83	Benign	rs2248473	RCV000357062\|RCV001683244;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52709883	52709883	12:g.52709883T>C	ClinGen:CA6577404	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1042-4C>A	3889	KRT83	Benign	rs200402665	RCV000262169\|RCV002520815;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52709901	52709901	12:g.52709901G>T	ClinGen:CA6577406	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1041+6A>G	3889	KRT83	Benign	rs2270267	RCV000312793\|RCV001698760;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52710246	52710246	12:g.52710246T>C	ClinGen:CA6577422	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1041+5C>T	3889	KRT83	Benign	rs377435485	RCV000367402;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52710247	52710247	12:g.52710247G>A	ClinGen:CA6577423	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1018G>A (p.Glu340Lys)	3889	KRT83	Conflicting interpretations of pathogenicity	rs553152302	RCV000277622\|RCV002522231;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MeSH:D030342,MedGen:C0950123	12	52710275	52710275	12:g.52710275C>T	ClinGen:CA6577430	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1017C>T (p.Ala339=)	3889	KRT83	Benign	rs143467763	RCV000332704;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52710276	52710276	12:g.52710276G>A	ClinGen:CA6577431	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.1014A>G (p.Thr338=)	3889	KRT83	Uncertain significance	rs202206430	RCV000382653;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52710279	52710279	NC_000012.11:g.52710279T>C	ClinGen:CA6577433	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.984C>T (p.Asn328=)	3889	KRT83	Benign	rs2257286	RCV000269553\|RCV001653518;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52710309	52710309	NC_000012.11:g.52710309G>A	ClinGen:CA6577440	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.957C>A (p.Thr319=)	3889	KRT83	Likely benign	rs755719932	RCV000328671\|RCV002520816;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52710336	52710336	NC_000012.11:g.52710336G>T	ClinGen:CA6577453	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.945G>A (p.Arg315=)	3889	KRT83	Benign	rs138807826	RCV001114821;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52710348	52710348	12:g.52710348C>T	-
NM_002282.3(KRT83):c.910A>T (p.Ser304Cys)	3889	KRT83	Benign	rs770757336	RCV000383206;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52710648	52710648	NC_000012.11:g.52710648T>A	ClinGen:CA6577481	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.891G>C (p.Glu297Asp)	3889	KRT83	Uncertain significance	rs886049621	RCV000284037;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52710667	52710667	NC_000012.11:g.52710667C>G	ClinGen:CA10633177	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.877C>T (p.Arg293Cys)	3889	KRT83	Conflicting interpretations of pathogenicity	rs143037477	RCV000339136\|RCV002520817;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MeSH:D030342,MedGen:C0950123	12	52710681	52710681	NC_000012.11:g.52710681G>A	ClinGen:CA6577492	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.843C>T (p.Ala281=)	3889	KRT83	Benign	rs2857669	RCV000379595\|RCV001612981;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52710715	52710715	NC_000012.11:g.52710715G>A	ClinGen:CA6577501	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.837C>G (p.Ile279Met)	3889	KRT83	Benign	rs2852464	RCV000285091\|RCV001612982;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52710721	52710721	NC_000012.11:g.52710721G>C	ClinGen:CA6577506,UniProtKB:P78385#VAR_018120	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.828G>A (p.Met276Ile)	3889	KRT83	Conflicting interpretations of pathogenicity	rs200274404	RCV001109178;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52710730	52710730	12:g.52710730C>T	-
NM_002282.3(KRT83):c.815G>A (p.Arg272Gln)	3889	KRT83	Uncertain significance	rs369510264	RCV000335572;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52710743	52710743	NC_000012.11:g.52710743C>T	ClinGen:CA6577510	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.790G>A (p.Val264Met)	3889	KRT83	Benign	rs201459857	RCV001109179;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52710768	52710768	12:g.52710768C>T	-
NM_002282.3(KRT83):c.768A>G (p.Gln256=)	3889	KRT83	Benign	rs143202217	RCV000405032\|RCV002522232;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52710790	52710790	NC_000012.11:g.52710790T>C	ClinGen:CA6577524	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.760A>G (p.Ile254Val)	3889	KRT83	Benign/Likely benign	rs150867374	RCV000282022\|RCV002502214\|RCV002520818;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MONDO:MONDO:0033015,MedGen:C4540331,OMIM:617756; Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN51	12	52710798	52710798	NC_000012.11:g.52710798T>C	ClinGen:CA6577525	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.750+15A>G	3889	KRT83	Benign	rs2248619	RCV000337099\|RCV001612983;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52711450	52711450	NC_000012.11:g.52711450T>C	ClinGen:CA6577548	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.699C>T (p.Asn233=)	3889	KRT83	Benign	rs186866078	RCV000394435;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52711516	52711516	NC_000012.11:g.52711516G>A	ClinGen:CA6577567	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.676C>T (p.Arg226Cys)	3889	KRT83	Benign	rs192947508	RCV000311225;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52711539	52711539	NC_000012.11:g.52711539G>A	ClinGen:CA6577571	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.667G>A (p.Ala223Thr)	3889	KRT83	Likely benign	rs149581248	RCV000370810;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52711548	52711548	12:g.52711548C>T	ClinGen:CA6577573	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.666C>A (p.Cys222Ter)	3889	KRT83	Benign/Likely benign	rs2857667	RCV000307853\|RCV000425816;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52711549	52711549	NC_000012.11:g.52711549G>T	ClinGen:CA6577575	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.666C>T (p.Cys222=)	3889	KRT83	Benign	rs2857667	RCV000394404\|RCV002056307;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52711549	52711549	NC_000012.11:g.52711549G>A	ClinGen:CA6577574	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.633C>T (p.Asn211=)	3889	KRT83	Benign	rs140012906	RCV000362574\|RCV002520819;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52711715	52711715	NC_000012.11:g.52711715G>A	ClinGen:CA6577601	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.599AAG[2] (p.Glu202del)	3889	KRT83	Benign/Likely benign	rs149269323	RCV000271652\|RCV002520820;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52711741	52711743	NC_000012.11:g.52711742TTC[2]	ClinGen:CA6577607	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.601G>T (p.Glu201Ter)	3889	KRT83	Benign	rs146753414	RCV000322012\|RCV000732729\|RCV002056308;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN169374\|MedGen:CN517202	12	52711747	52711747	NC_000012.11:g.52711747C>A	ClinGen:CA6577609	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.593+15G>A	3889	KRT83	Benign	rs756856491	RCV000358198;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52712925	52712925	NC_000012.11:g.52712925C>T	ClinGen:CA6577630	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.558C>T (p.Asn186=)	3889	KRT83	Benign	rs3741715	RCV000056955\|RCV000268180;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52712975	52712975	12:g.52712975G>A	ClinGen:CA217288	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.520G>C (p.Val174Leu)	3889	KRT83	Benign	rs181439241	RCV001113503;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52713013	52713013	12:g.52713013C>G	-
NM_002282.3(KRT83):c.514G>A (p.Glu172Lys)	3889	KRT83	Uncertain significance	rs140443749	RCV000323297;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52713019	52713019	NC_000012.11:g.52713019C>T	ClinGen:CA6577651	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.502C>T (p.Arg168Trp)	3889	KRT83	Uncertain significance	rs778964859	RCV000373335;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52713031	52713031	NC_000012.11:g.52713031G>A	ClinGen:CA6577656	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.497C>G (p.Thr166Ser)	3889	KRT83	Benign	rs200690744	RCV000278352;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52713036	52713036	NC_000012.11:g.52713036G>C	ClinGen:CA6577658	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.485G>T (p.Gly162Val)	3889	KRT83	Uncertain significance	rs140783754	RCV000319382;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52713048	52713048	NC_000012.11:g.52713048C>A	ClinGen:CA10641859	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.480T>C (p.Phe160=)	3889	KRT83	Benign	rs11834565	RCV000373993\|RCV002520821;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52713053	52713053	NC_000012.11:g.52713053A>G	ClinGen:CA6577663	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.452G>A (p.Cys151Tyr)	3889	KRT83	Benign	rs201680950	RCV000293587;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52713081	52713081	NC_000012.11:g.52713081C>T	ClinGen:CA6577670	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.445C>T (p.Arg149Cys)	3889	KRT83	Benign	rs2857663	RCV000348373\|RCV001537044;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52713088	52713088	NC_000012.11:g.52713088G>A	ClinGen:CA6577676,UniProtKB:P78385#VAR_018119	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.389G>A (p.Arg130His)	3889	KRT83	Conflicting interpretations of pathogenicity	rs139360978	RCV001114926\|RCV002556254;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MeSH:D030342,MedGen:C0950123	12	52713144	52713144	12:g.52713144C>T	-
NM_002282.3(KRT83):c.363A>G (p.Arg121=)	3889	KRT83	Benign	rs571144595	RCV001114927;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52714757	52714757	12:g.52714757T>C	-
NM_002282.3(KRT83):c.328GAG[1] (p.Glu111del)	3889	KRT83	Likely benign	rs563212614	RCV000403423;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52714787	52714789	NC_000012.11:g.52714789CCT[1]	ClinGen:CA6577731	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.312G>A (p.Ala104=)	3889	KRT83	Benign	rs111267865	RCV000294514\|RCV002522233;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52714808	52714808	NC_000012.11:g.52714808C>T	ClinGen:CA6577739	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.310G>A (p.Ala104Thr)	3889	KRT83	Likely benign	rs779172264	RCV000344748;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52714810	52714810	NC_000012.11:g.52714810C>T	ClinGen:CA6577741	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.260C>T (p.Ser87Leu)	3889	KRT83	Uncertain significance	rs538643123	RCV001114928;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52714860	52714860	12:g.52714860G>A	-
NM_002282.3(KRT83):c.192C>A (p.Cys64Ter)	3889	KRT83	Benign	rs199997738	RCV001114929;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52714928	52714928	12:g.52714928G>T	-
NM_002282.3(KRT83):c.184G>A (p.Gly62Ser)	3889	KRT83	Uncertain significance	rs749653752	RCV000398083;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52714936	52714936	NC_000012.11:g.52714936C>T	ClinGen:CA10637970	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.183C>T (p.Ala61=)	3889	KRT83	Uncertain significance	rs755364196	RCV000309878;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52714937	52714937	NC_000012.11:g.52714937G>A	ClinGen:CA10633186	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.173G>C (p.Gly58Ala)	3889	KRT83	Uncertain significance	rs776629118	RCV000365424;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52714947	52714947	NC_000012.11:g.52714947C>G	ClinGen:CA10637971	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.147C>A (p.Gly49=)	3889	KRT83	Benign	rs542978203	RCV000398096;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52714973	52714973	NC_000012.11:g.52714973G>T	ClinGen:CA6577807	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.83G>T (p.Ser28Ile)	3889	KRT83	Uncertain significance	rs886049622	RCV000302482;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52715037	52715037	NC_000012.11:g.52715037C>A	ClinGen:CA10641865	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.67T>G (p.Cys23Gly)	3889	KRT83	Benign	rs61485872	RCV000361847\|RCV002522234;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52715053	52715053	12:g.52715053A>C	ClinGen:CA6577844	C0546966 158000 Beaded hair;
NM_002282.3(KRT83):c.-58C>A	3889	KRT83	Uncertain significance	rs573598308	RCV001109282;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52715177	52715177	12:g.52715177G>T	-
NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp)	3892	KRT86	Pathogenic	rs61091894	RCV000008051\|RCV000056963;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52696040	52696040	12:g.52696040A>G	ClinGen:CA118927,UniProtKB:O43790#VAR_018125,OMIM:601928.0004	C0546966 158000 Beaded hair;
NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu)	3892	KRT86	Pathogenic	rs60612575	RCV000008053\|RCV000056965;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52696053	52696053	12:g.52696053C>A	ClinGen:CA118929,OMIM:601928.0006	C0546966 158000 Beaded hair;
NM_001320198.2(KRT86):c.684T>C (p.Asn228=)	3892	KRT86	Benign/Likely benign	-1	RCV001615410\|RCV002501966;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52698760	52698760	52698760	-
NM_001320198.2(KRT86):c.1053T>C (p.Ala351=)	3892	KRT86	Benign/Likely benign	rs28733260	RCV000947452\|RCV002489293;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52699870	52699870	12:g.52699870T>C	-
NM_001320198.2(KRT86):c.1102T>C (p.Leu368=)	3892	KRT86	Benign/Likely benign	rs11170087	RCV000947453\|RCV002502909;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573	12	52699919	52699919	12:g.52699919T>C	-
NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys)	3892	KRT86	Pathogenic	rs60687604	RCV000008050\|RCV000056957;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52700021	52700021	12:g.52700021G>A	OMIM:601928.0003,ClinGen:CA118926,UniProtKB:O43790#VAR_018127	C0546966 158000 Beaded hair;
NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln)	3892	KRT86	Pathogenic	rs60687604	RCV000008052\|RCV000056958;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52700021	52700021	12:g.52700021G>C	ClinGen:CA118928,UniProtKB:O43790#VAR_018126,OMIM:601928.0005	C0546966 158000 Beaded hair;
NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys)	3892	KRT86	Pathogenic	rs121909129	RCV000008048\|RCV000056959;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52700054	52700054	12:g.52700054G>A	ClinGen:CA118924,UniProtKB:O43790#VAR_018128,OMIM:601928.0001	C0546966 158000 Beaded hair;
NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp)	3892	KRT86	Pathogenic	rs121909130	RCV000008049\|RCV000056960;	N	Human Phenotype Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:158000, Orphanet:573\|MedGen:CN517202	12	52700056	52700056	12:g.52700056G>T	ClinGen:CA118925,UniProtKB:O43790#VAR_018129,OMIM:601928.0002	C0546966 158000 Beaded hair;

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