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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: Skin Diseases, Genetic (D012873)
..Starting node ..Leukokeratosis, Hereditary Mucosal (D053529)
Child Nodes:
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:

7015

Name:

Leukokeratosis, Hereditary Mucosal

Definition:

An autosomal dominant disorder that is manifested by thickened spongiform ORAL MUCOSA with a white opalescent tint. Other MUCOSAL TISSUE may also be involved mucosa found in the VAGINA; RECTUM, and NASAL CAVITY may be similarly involved. This form of LEUKOKERATOSIS can be caused by a mutation in the gene for KERATIN 4 and is not considered a PRENEOPLASTIC CONDITION.

Alternative IDs:

DO:DOID:0050448|OMIM:193900|OMIM:615785

ParentIDs:

MESH:D012873

TreeNumbers:

C16.320.850.542 |C17.800.827.595

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: D053529
MeSH: D053529
OMIM: 615785;
MSeqDR :
Genes: KRT13; KRT4;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0025092	Epidermal acanthosis
3	HP:0040009	Hyperparakeratosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_153490.3(KRT13):c.*274T>C	3860	KRT13	Benign	141918873	RCV001128585;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657234	39657234	17:g.39657234A>G	-
NM_153490.3(KRT13):c.*268C>T	3860	KRT13	Benign	188347004	RCV001128586;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657240	39657240	17:g.39657240G>A	-
NM_153490.3(KRT13):c.*228C>G	3860	KRT13	Uncertain significance	574184263	RCV000332496;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657280	39657280	NC_000017.10:g.39657280G>C	ClinGen:CA10645600	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.*175G>A	3860	KRT13	Uncertain significance	1459808765	RCV001128587;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657333	39657333	17:g.39657333C>T	-
NM_153490.3(KRT13):c.*171G>T	3860	KRT13	Benign	903	RCV000389234\|RCV001613037;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39657337	39657337	NC_000017.10:g.39657337C>A	ClinGen:CA10649186	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.*170C>T	3860	KRT13	Benign	3169911	RCV000292684\|RCV001683299;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39657338	39657338	17:g.39657338G>A	ClinGen:CA10650072	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.*162T>C	3860	KRT13	Uncertain significance	1904829902	RCV001122891;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657346	39657346	17:g.39657346A>G	-
NM_153490.3(KRT13):c.*85C>T	3860	KRT13	Uncertain significance	886052906	RCV000350051;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657423	39657423	17:g.39657423G>A	ClinGen:CA10645604	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.*74A>C	3860	KRT13	Uncertain significance	886052907	RCV000396814;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657434	39657434	17:g.39657434T>G	ClinGen:CA10639580	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.*19C>T	3860	KRT13	Uncertain significance	760565338	RCV001122892;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657489	39657489	17:g.39657489G>A	-
NM_153490.3(KRT13):c.1366C>T (p.Arg456Cys)	3860	KRT13	Benign	146666963	RCV001122893;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657519	39657519	17:g.39657519G>A	-
NM_153490.3(KRT13):c.1352G>A (p.Arg451His)	3860	KRT13	Benign	550693344	RCV000291664;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657533	39657533	17:g.39657533C>T	ClinGen:CA8560407	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.1350C>T (p.Arg450=)	3860	KRT13	Uncertain significance	140142101	RCV001122894;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657535	39657535	17:g.39657535G>A	-
NM_153490.3(KRT13):c.1295C>G (p.Ser432Cys)	3860	KRT13	Uncertain significance	1394162514	RCV001122895;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657590	39657590	17:g.39657590G>C	-
NM_153490.3(KRT13):c.1286G>A (p.Arg429His)	3860	KRT13	Benign	150321809	RCV000344301;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657599	39657599	17:g.39657599C>T	ClinGen:CA8560422	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.1276G>A (p.Val426Ile)	3860	KRT13	Benign	144967807	RCV000396784;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39657609	39657609	17:g.39657609C>T	ClinGen:CA8560426	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.1238A>T (p.Asp413Val)	3860	KRT13	Likely benign	200269035	RCV001123965;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39658632	39658632	17:g.39658632T>A	-
NM_153490.3(KRT13):c.1227C>T (p.Leu409=)	3860	KRT13	Benign	149077503	RCV000303070;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39658643	39658643	17:g.39658643G>A	ClinGen:CA8560484	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.1220G>A (p.Ser407Asn)	3860	KRT13	Uncertain significance	1265435884	RCV001123966;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39658650	39658650	17:g.39658650C>T	-
NM_153490.3(KRT13):c.1217G>T (p.Arg406Leu)	3860	KRT13	Benign	145983286	RCV000339289\|RCV001529453;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:CN517202	17	39658653	39658653	17:g.39658653C>A	ClinGen:CA8560487	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.1133G>A (p.Arg378His)	3860	KRT13	Benign	200309164	RCV000402314;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39658737	39658737	17:g.39658737C>T	ClinGen:CA8560504	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.1028C>T (p.Ala343Val)	3860	KRT13	Benign	199762312	RCV000304115;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39658842	39658842	17:g.39658842G>A	ClinGen:CA8560533	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.1009T>C (p.Ser337Pro)	3860	KRT13	Benign	139318123	RCV000354314;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39658953	39658953	17:g.39658953A>G	ClinGen:CA8560563	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.991C>T (p.Leu331=)	3860	KRT13	Uncertain significance	771435962	RCV000259470;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39658971	39658971	17:g.39658971G>A	ClinGen:CA8560565	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.947C>T (p.Thr316Ile)	3860	KRT13	Benign	753928241	RCV000300596;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659015	39659015	NC_000017.10:g.39659015G>A	ClinGen:CA8560576	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.897+6C>T	3860	KRT13	Benign	4796698	RCV000355252\|RCV001534769;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39659183	39659183	NC_000017.10:g.39659183G>A	ClinGen:CA8560616	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.892A>G (p.Thr298Ala)	3860	KRT13	Benign	4796697	RCV001731064;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659194	39659194	39659194	-
NM_153490.3(KRT13):c.869G>A (p.Arg290Gln)	3860	KRT13	Benign	535020030	RCV000274565\|RCV000895674;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39659217	39659217	NC_000017.10:g.39659217C>T	ClinGen:CA8560623	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.853G>A (p.Ala285Thr)	3860	KRT13	Uncertain significance	1904920258	RCV001127037;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659233	39659233	17:g.39659233C>T	-
NM_153490.3(KRT13):c.844G>A (p.Glu282Lys)	3860	KRT13	Conflicting interpretations of pathogenicity	202057977	RCV000329675\|RCV003298383;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MeSH:D030342,MedGen:C0950123	17	39659242	39659242	NC_000017.10:g.39659242C>T	ClinGen:CA8560629	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.823G>A (p.Ala275Thr)	3860	KRT13	Uncertain significance	767618537	RCV001127038;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659263	39659263	17:g.39659263C>T	-
NM_153490.3(KRT13):c.815G>A (p.Arg272His)	3860	KRT13	Benign	142526332	RCV000388901;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659271	39659271	NC_000017.10:g.39659271C>T	ClinGen:CA8560639	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.767G>A (p.Gly256Asp)	3860	KRT13	Benign	150947773	RCV000270841;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659319	39659319	NC_000017.10:g.39659319C>T	ClinGen:CA8560651	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.766G>A (p.Gly256Ser)	3860	KRT13	Conflicting interpretations of pathogenicity	140780704	RCV000325862\|RCV002521105;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MeSH:D030342,MedGen:C0950123	17	39659320	39659320	NC_000017.10:g.39659320C>T	ClinGen:CA8560652	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.765C>T (p.Val255=)	3860	KRT13	Benign	147564962	RCV000385030;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659321	39659321	NC_000017.10:g.39659321G>A	ClinGen:CA8560653	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.759G>C (p.Gln253His)	3860	KRT13	Uncertain significance	766894151	RCV000290719;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659327	39659327	NC_000017.10:g.39659327C>G	ClinGen:CA8560656	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.736-7C>G	3860	KRT13	Benign	34367942	RCV000341166\|RCV000957604;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39659357	39659357	NC_000017.10:g.39659357G>C	ClinGen:CA8560658	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.735+10A>G	3860	KRT13	Benign	7211835	RCV000377184;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659529	39659529	NC_000017.10:g.39659529T>C	ClinGen:CA8560677	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.735+6C>T	3860	KRT13	Benign	181122697	RCV000287424\|RCV000950821;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39659533	39659533	NC_000017.10:g.39659533G>A	ClinGen:CA8560679	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.637C>T (p.Arg213Trp)	3860	KRT13	Benign	78223890	RCV001123005;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659637	39659637	17:g.39659637G>A	-
NM_153490.3(KRT13):c.610G>A (p.Val204Met)	3860	KRT13	Likely benign	138102206	RCV000342351;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659664	39659664	NC_000017.10:g.39659664C>T	ClinGen:CA8560707	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.560C>T (p.Ala187Val)	3860	KRT13	Benign	9891361	RCV000395479\|RCV001672536;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39659913	39659913	NC_000017.10:g.39659913G>A	ClinGen:CA8560743,UniProtKB:P13646#VAR_060724	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.523C>G (p.Arg175Gly)	3860	KRT13	Uncertain significance	764088068	RCV001124067;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659950	39659950	17:g.39659950G>C	-
NM_153490.3(KRT13):c.509C>G (p.Thr170Ser)	3860	KRT13	Conflicting interpretations of pathogenicity	148102980	RCV000338433\|RCV001357960\|RCV002522953;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	39659964	39659964	NC_000017.10:g.39659964G>C	ClinGen:CA8560757	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.496-9A>G	3860	KRT13	Uncertain significance	780820686	RCV000399417;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39659986	39659986	NC_000017.10:g.39659986T>C	ClinGen:CA8560764	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.449G>A (p.Arg150Gln)	3860	KRT13	Benign	548070268	RCV000313078;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661354	39661354	NC_000017.10:g.39661354C>T	ClinGen:CA8560792	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.437C>G (p.Ala146Gly)	3860	KRT13	Benign	760134	RCV000367695\|RCV001653575;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39661366	39661366	NC_000017.10:g.39661366G>C	ClinGen:CA8560795,UniProtKB:P13646#VAR_024488	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.420C>T (p.His140=)	3860	KRT13	Benign	530596803	RCV000277772;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661383	39661383	NC_000017.10:g.39661383G>A	ClinGen:CA8560797	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.409C>T (p.Arg137Cys)	3860	KRT13	Benign	142183272	RCV000314166;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661394	39661394	NC_000017.10:g.39661394G>A	ClinGen:CA8560799	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.384C>T (p.Ala128=)	3860	KRT13	Benign	149623369	RCV000363477\|RCV000959383;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39661419	39661419	NC_000017.10:g.39661419G>A	ClinGen:CA8560807	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.356T>C (p.Leu119Pro)	3860	KRT13	Pathogenic	60440396	RCV000015734\|RCV000057210;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:CN517202	17	39661447	39661447	17:g.39661447A>G	ClinGen:CA124161,UniProtKB:P13646#VAR_003836,OMIM:148065.0001	CN517202 not provided;
NM_153490.3(KRT13):c.337G>A (p.Asp113Asn)	3860	KRT13	Uncertain significance	886052908	RCV000268820;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661466	39661466	NC_000017.10:g.39661466C>T	ClinGen:CA10645621	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.332T>C (p.Leu111Pro)	3860	KRT13	Pathogenic	59897026	RCV000057206\|RCV000116204;	N	MedGen:CN517202\|MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661471	39661471	17:g.39661471A>G	ClinGen:CA151546,UniProtKB:P13646#VAR_023924,OMIM:148065.0002	CN517202 not provided;
NM_153490.3(KRT13):c.291C>T (p.Gly97=)	3860	KRT13	Likely benign	747752896	RCV001126731;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661512	39661512	17:g.39661512G>A	-
NM_153490.3(KRT13):c.204C>A (p.Gly68=)	3860	KRT13	Benign	113547405	RCV000328677\|RCV000957605;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785\|MedGen:C3661900	17	39661599	39661599	NC_000017.10:g.39661599G>T	ClinGen:CA8560838	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.177T>C (p.Ser59=)	3860	KRT13	Benign	142246675	RCV000383205;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661626	39661626	NC_000017.10:g.39661626A>G	ClinGen:CA8560847	C1721005 193900 White sponge nevus of cannon;
NM_153490.3(KRT13):c.114C>T (p.Ser38=)	3860	KRT13	Benign	8182306	RCV001731065;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661689	39661689	39661689	-
NM_153490.3(KRT13):c.9C>T (p.Leu3=)	3860	KRT13	Likely benign	185787290	RCV001126732;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661794	39661794	17:g.39661794G>A	-
NM_153490.3(KRT13):c.-45C>A	3860	KRT13	Likely benign	367712050	RCV000265129;	N	MONDO:MONDO:0014346,MedGen:C4014321,OMIM:615785	17	39661847	39661847	NC_000017.10:g.39661847G>T	ClinGen:CA8560899	C1721005 193900 White sponge nevus of cannon;

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