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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

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Disease Browser
Parent Node: Hereditary Autoinflammatory Diseases (D056660)
Parent Node: Hypergammaglobulinemia (D006942)
Parent Node: Peroxisomal Disorders (D018901)
..Starting node ..Mevalonate Kinase Deficiency (D054078)
Child Nodes:
Sister Nodes:
..Acatalasia (D020642)
..Adrenoleukodystrophy (D000326) 4
..Bile acid synthesis defect, congenital, 4 (C535444)
..Chondrodysplasia Punctata, Rhizomelic (D018902) 3
..Mevalonate Kinase Deficiency (D054078)
..Peroxisome Biogenesis Disorder, Complementation Group 1 (C566568)
..Peroxisome Biogenesis Disorder, Complementation Group 11 (C566634)
..Peroxisome Biogenesis Disorder, Complementation Group 12 (C566405)
..Peroxisome Biogenesis Disorder, Complementation Group 13 (C566625)
..Peroxisome Biogenesis Disorder, Complementation Group 14 (C563964)
..Peroxisome Biogenesis Disorder, Complementation Group 3 (C566633)
..Peroxisome Biogenesis Disorder, Complementation Group 4 (C563301)
..Peroxisome Biogenesis Disorder, Complementation Group 7 (C566422)
..Peroxisome Biogenesis Disorder, Complementation Group 9 (C566387)
..Peroxisome Biogenesis Disorder, Complementation Group D (C566388)
..Peroxisome Biogenesis Disorder, Complementation Group E (C566569)
..Peroxisome Biogenesis Disorder, Complementation Group G (C566406)
..Peroxisome Biogenesis Disorder, Complementation Group H (C566626)
..Peroxisome Biogenesis Disorder, Complementation Group J (C563965)
..Peroxisome Biogenesis Disorder, Complementation Group K (C566624)
..Peroxisome Biogenesis Disorder, Complementation Group R (C566635)
..Peroxisome biogenesis disorders (C536664)
..Refsum Disease (D012035) 4
..Refsum Disease, Infantile (D052919)
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7160

Name:

Mevalonate Kinase Deficiency

Definition:

Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.

Alternative IDs:

OMIM:260920|OMIM:610377

ParentIDs:

MESH:D006942|MESH:D018901|MESH:D056660

TreeNumbers:

C10.228.140.163.100.680.430 |C15.378.147.542.319 |C16.320.382.750 |C16.320.565.189.680.430 |C16.320.565.663.480 |C18.452.132.100.680.430 |C18.452.648.189.680.430 |C18.452.648.663.480 |C20.683.460.319

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease

Reference:

MedGen: D054078
MeSH: D054078
OMIM: 260920;

Genes: MVK;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002027	Abdominal pain
3	HP:0002829	Arthralgia
4	HP:0001369	Arthritis
5	HP:0002014	Diarrhea
6	HP:0003565	Elevated erythrocyte sedimentation rate
7	HP:0002315	Headache
8	HP:0001034	Hypermelanotic macule
9	HP:0003261	Increased circulating IgA level
10	HP:0001974	Leukocytosis
11	HP:0002716	Lymphadenopathy
12	HP:0011897	Neutrophilia
13	HP:0000662	Nyctalopia
14	HP:0000543	Optic disc pallor
15	HP:0000510	Rod-cone dystrophy	HP:0040283
16	HP:0000988	Skin rash
17	HP:0001744	Splenomegaly
18	HP:0002321	Vertigo
19	HP:0002013	Vomiting

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_000431.3(MVK):c.-76-249A>T	4598	MVK	not provided	560451620	RCV000084151;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110011368	110011368	NM_000431.3:c.-76-249A>T		NC_000012.11:g.110011368A>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.-14_78del92	4598	MVK	not provided	104895309	RCV000083811;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110012614	110012705	NM_000431.3:c.-14_78del92		NC_000012.11:g.110012614_110012705del92	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.16_34del (p.Leu6Glyfs)	4598	MVK	Pathogenic	104895334	RCV000012713; RCV000083827;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:C1959626,OMIM:610377,ORPHA:29	12	110012643	110012661	NM_000431.3:c.16_34del	NP_000422.1:p.Leu6Glyfs	NC_000012.11:g.110012643_110012661del19	OMIM Allelic Variant:251170.0008	C0398691 260920 Hyperimmunoglobulin D with periodic fever; C1959626 610377 Mevalonic aciduria
NM_000431.3(MVK):c.22G>C (p.Val8Leu)	4598	MVK	not provided	104895328	RCV000083829;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110012649	110012649	NM_000431.3:c.22G>C	NP_000422.1:p.Val8Leu	NC_000012.11:g.110012649G>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.37A>T (p.Lys13Ter)	4598	MVK	not provided	104895307	RCV000083837;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110012664	110012664	NM_000431.3:c.37A>T	NP_000422.1:p.Lys13Ter	NC_000012.11:g.110012664A>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.59A>C (p.His20Pro)	4598	MVK	Pathogenic	104895295	RCV000012708; RCV000012707;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:C1959626,OMIM:610377,ORPHA:29	12	110012686	110012686	NM_000431.3:c.59A>C	NP_000422.1:p.His20Pro	NC_000012.11:g.110012686A>C	OMIM Allelic Variant:251170.0003	C0398691 260920 Hyperimmunoglobulin D with periodic fever; C1959626 610377 Mevalonic aciduria
NM_000431.3(MVK):c.60T>A (p.His20Gln)	4598	MVK	not provided	104895335	RCV000083854;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110012687	110012687	NM_000431.3:c.60T>A	NP_000422.1:p.His20Gln	NC_000012.11:g.110012687T>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs)	4598	MVK	Pathogenic	104895322	RCV000074424; RCV000083866;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:C1959626,OMIM:610377,ORPHA:29	12	110012699	110012699	NM_000431.3:c.72dupT	NP_000422.1:p.Gly25Trpfs	NC_000012.11:g.110012699dupT	OMIM Allelic Variant:251170.0016	C0398691 260920 Hyperimmunoglobulin D with periodic fever; C1959626 610377 Mevalonic aciduria
NM_000431.3(MVK):c.75C>T (p.Gly25=)	4598	MVK	not provided	104895330	RCV000083869;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110012702	110012702	NM_000431.3:c.75C>T	NP_000422.1:p.Gly25=	NC_000012.11:g.110012702C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.78+2delT	4598	MVK	not provided	104895378	RCV000083875;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110012707	110012707	NM_000431.3:c.78+2delT		NC_000012.11:g.110012707delT	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.78+177G>A	4598	MVK	not provided	104895343	RCV000083874;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110012882	110012882	NM_000431.3:c.78+177G>A		NC_000012.11:g.110012882G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.79-62G>A	4598	MVK	not provided	104895344	RCV000083876;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110013741	110013741	NM_000431.3:c.79-62G>A		NC_000012.11:g.110013741G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.79_226del148 (p.Val27Serfs)	4598	MVK	not provided	104895327	RCV000083880;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110013803	110013950	NM_000431.3:c.79_226del148	NP_000422.1:p.Val27Serfs	NC_000012.11:g.110013803_110013950del148	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.86delT (p.Leu29Argfs)	4598	MVK	not provided	104895381	RCV000083887;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110013810	110013810	NM_000431.3:c.86delT	NP_000422.1:p.Leu29Argfs	NC_000012.11:g.110013810delT	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.104T>C (p.Leu35Ser)	4598	MVK	not provided	104895313	RCV000083815;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110013828	110013828	NM_000431.3:c.104T>C	NP_000422.1:p.Leu35Ser	NC_000012.11:g.110013828T>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.116T>C (p.Leu39Pro)	4598	MVK	not provided	104895296	RCV000083825;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110013840	110013840	NM_000431.3:c.116T>C	NP_000422.1:p.Leu39Pro	NC_000012.11:g.110013840T>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.129_130delCC (p.His44Glnfs)	4598	MVK	not provided	104895368	RCV000083826;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110013853	110013854	NM_000431.3:c.129_130delCC	NP_000422.1:p.His44Glnfs	NC_000012.11:g.110013853_110013854delCC	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.185G>A (p.Trp62Ter)	4598	MVK	not provided	104895306	RCV000083828;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110013909	110013909	NM_000431.3:c.185G>A	NP_000422.1:p.Trp62Ter	NC_000012.11:g.110013909G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.238G>A (p.Val80Ile)	4598	MVK	not provided	76914224	RCV000083830;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110017618	110017618	NM_000431.3:c.238G>A	NP_000422.1:p.Val80Ile	NC_000012.11:g.110017618G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.277_283delGAGGTTG (p.Glu93Glnfs)	4598	MVK	not provided	104895369	RCV000083831;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110017657	110017663	NM_000431.3:c.277_283delGAGGTTG	NP_000422.1:p.Glu93Glnfs	NC_000012.11:g.110017657_110017663delGAGGTTG	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.340_344delTACTT (p.Tyr114Ilefs)	4598	MVK	not provided	104895370	RCV000083832;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110017720	110017724	NM_000431.3:c.340_344delTACTT	NP_000422.1:p.Tyr114Ilefs	NC_000012.11:g.110017720_110017724delTACTT	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.346T>C (p.Tyr116His)	4598	MVK	Pathogenic	104895382	RCV000083833; RCV000220019;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:CN221809	12	110017726	110017726	NM_000431.3:c.346T>C	NP_000422.1:p.Tyr116His	NC_000012.11:g.110017726T>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever; CN221809 not provided
NM_000431.3(MVK):c.357C>G (p.Ile119Met)	4598	MVK	not provided	104895341	RCV000083834;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110017737	110017737	NM_000431.3:c.357C>G	NP_000422.1:p.Ile119Met	NC_000012.11:g.110017737C>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.372-3C>T	4598	MVK	not provided	104895354	RCV000083835;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019197	110019197	NM_000431.3:c.372-3C>T		NC_000012.11:g.110019197C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.372_527del156 (p.Ala125_Arg176del)	4598	MVK	not provided	104895310	RCV000083836;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019200	110019355	NM_000431.3:c.372_527del156	NP_000422.1:p.Ala125_Arg176del	NC_000012.11:g.110019200_110019355del156	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.394G>A (p.Val132Ile)	4598	MVK	not provided	104895336	RCV000083838;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019222	110019222	NM_000431.3:c.394G>A	NP_000422.1:p.Val132Ile	NC_000012.11:g.110019222G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.404C>T (p.Ser135Leu)	4598	MVK	not provided	104895297	RCV000083839;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019232	110019232	NM_000431.3:c.404C>T	NP_000422.1:p.Ser135Leu	NC_000012.11:g.110019232C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.417dupC (p.Gly140Argfs)	4598	MVK	Pathogenic	104895373	RCV000074423; RCV000032941; RCV000083840;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:C1867981,OMIM:175900; MedGen:C1959626,OMIM:610377,ORPHA:29	12	110019245	110019245	NM_000431.3:c.417dupC	NP_000422.1:p.Gly140Argfs	NC_000012.11:g.110019245dupC	OMIM Allelic Variant:251170.0012	C0398691 260920 Hyperimmunoglobulin D with periodic fever; C1959626 610377 Mevalonic aciduria; C1867981 175900 Porokeratosis, disseminated superficial actinic 1
NM_000431.3(MVK):c.421dupG (p.Ala141Glyfs)	4598	MVK	Pathogenic	104895323	RCV000083842;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019249	110019249	NM_000431.3:c.421dupG	NP_000422.1:p.Ala141Glyfs	NC_000012.11:g.110019249dupG	OMIM Allelic Variant:251170.0017	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.421delG (p.Ala141Argfs)	4598	MVK	not provided	104895361	RCV000083841;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019249	110019249	NM_000431.3:c.421delG	NP_000422.1:p.Ala141Argfs	NC_000012.11:g.110019249delG	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.439G>A (p.Ala147Thr)	4598	MVK	not provided	104895363	RCV000083843;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019267	110019267	NM_000431.3:c.439G>A	NP_000422.1:p.Ala147Thr	NC_000012.11:g.110019267G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.442G>A (p.Ala148Thr)	4598	MVK	Pathogenic	104895298	RCV000083844; RCV000214102;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:CN221809	12	110019270	110019270	NM_000431.3:c.442G>A	NP_000422.1:p.Ala148Thr	NC_000012.11:g.110019270G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever; CN221809 not provided
NM_000431.3(MVK):c.447C>G (p.Tyr149Ter)	4598	MVK	not provided	104895299	RCV000083845;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019275	110019275	NM_000431.3:c.447C>G	NP_000422.1:p.Tyr149Ter	NC_000012.11:g.110019275C>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.494C>T (p.Pro165Leu)	4598	MVK	Pathogenic	121917790	RCV000012711;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019322	110019322	NM_000431.3:c.494C>T	NP_000422.1:p.Pro165Leu	NC_000012.11:g.110019322C>T	OMIM Allelic Variant:251170.0005	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.500C>T (p.Pro167Leu)	4598	MVK	Pathogenic	104895300	RCV000032937;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019328	110019328	NM_000431.3:c.500C>T	NP_000422.1:p.Pro167Leu	NC_000012.11:g.110019328C>T	OMIM Allelic Variant:251170.0011	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.503_512delTGAAGGACGGinsAC (p.Leu168Hisfs)	4598	MVK	not provided	104895375	RCV000083846;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019331	110019340	NM_000431.3:c.503_512delTGAAGGACGGinsAC	NP_000422.1:p.Leu168Hisfs	NC_000012.11:g.110019331_110019340delTGAAGGACGGinsAC	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.511G>A (p.Gly171Arg)	4598	MVK	not provided	104895337	RCV000083847;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019339	110019339	NM_000431.3:c.511G>A	NP_000422.1:p.Gly171Arg	NC_000012.11:g.110019339G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.516T>C (p.Asp172=)	4598	MVK	not provided	104895320	RCV000083848;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110019344	110019344	NM_000431.3:c.516T>C	NP_000422.1:p.Asp172=	NC_000012.11:g.110019344T>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.564G>A (p.Trp188Ter)	4598	MVK	not provided	104895311	RCV000083849;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110023863	110023863	NM_000431.3:c.564G>A	NP_000422.1:p.Trp188Ter	NC_000012.11:g.110023863G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.571delC (p.Gln191Lysfs)	4598	MVK	not provided	104895371	RCV000083850;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110023870	110023870	NM_000431.3:c.571delC	NP_000422.1:p.Gln191Lysfs	NC_000012.11:g.110023870delC	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.591C>T (p.His197=)	4598	MVK	not provided	104895329	RCV000083851;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110023890	110023890	NM_000431.3:c.591C>T	NP_000422.1:p.His197=	NC_000012.11:g.110023890C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.604G>A (p.Gly202Arg)	4598	MVK	Pathogenic	104895301	RCV000032940; RCV000032939; RCV000032938;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:C1867981,OMIM:175900; MedGen:C1959626,OMIM:610377,ORPHA:29	12	110023903	110023903	NM_000431.3:c.604G>A	NP_000422.1:p.Gly202Arg	NC_000012.11:g.110023903G>A	OMIM Allelic Variant:251170.0010	C0398691 260920 Hyperimmunoglobulin D with periodic fever; C1959626 610377 Mevalonic aciduria; C1867981 175900 Porokeratosis, disseminated superficial actinic 1
NM_000431.3(MVK):c.607dupG (p.Val203Glyfs)	4598	MVK	not provided	104895374	RCV000083852;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110023906	110023906	NM_000431.3:c.607dupG	NP_000422.1:p.Val203Glyfs	NC_000012.11:g.110023906dupG	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.608T>C (p.Val203Ala)	4598	MVK	Pathogenic	104895332	RCV000083853; RCV000217732;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:CN221809	12	110023907	110023907	NM_000431.3:c.608T>C	NP_000422.1:p.Val203Ala	NC_000012.11:g.110023907T>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever; CN221809 not provided
NM_000431.3(MVK):c.613A>G (p.Asn205Asp)	4598	MVK	not provided	104895364	RCV000083855;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110023912	110023912	NM_000431.3:c.613A>G	NP_000422.1:p.Asn205Asp	NC_000012.11:g.110023912A>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.625A>G (p.Thr209Ala)	4598	MVK	not provided	104895302	RCV000083856;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110023924	110023924	NM_000431.3:c.625A>G	NP_000422.1:p.Thr209Ala	NC_000012.11:g.110023924A>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.632-71A>G	4598	MVK	not provided	104895346	RCV000083857;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110024488	110024488	NM_000431.3:c.632-71A>G		NC_000012.11:g.110024488A>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.632G>A (p.Gly211Glu)	4598	MVK	not provided	104895325	RCV000083858;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110024559	110024559	NM_000431.3:c.632G>A	NP_000422.1:p.Gly211Glu	NC_000012.11:g.110024559G>A,NC_000012.11:g.110024559G>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.632G>C (p.Gly211Ala)	4598	MVK	not provided	104895325	RCV000083859;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110024559	110024559	NM_000431.3:c.632G>C	NP_000422.1:p.Gly211Ala	NC_000012.11:g.110024559G>A,NC_000012.11:g.110024559G>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.644G>A (p.Arg215Gln)	4598	MVK	not provided	104895303	RCV000083860;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110024571	110024571	NM_000431.3:c.644G>A	NP_000422.1:p.Arg215Gln	NC_000012.11:g.110024571G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.678-1G>C	4598	MVK	not provided	104895376	RCV000083861;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110028575	110028575	NM_000431.3:c.678-1G>C		NC_000012.11:g.110028575G>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.684A>G (p.Pro228=)	4598	MVK	not provided	104895377	RCV000083862;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110028582	110028582	NM_000431.3:c.684A>G	NP_000422.1:p.Pro228=	NC_000012.11:g.110028582A>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.701T>C (p.Leu234Pro)	4598	MVK	not provided	104895365	RCV000083863;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110028599	110028599	NM_000431.3:c.701T>C	NP_000422.1:p.Leu234Pro	NC_000012.11:g.110028599T>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.709A>T (p.Thr237Ser)	4598	MVK	not provided	104895366	RCV000083864;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110028607	110028607	NM_000431.3:c.709A>T	NP_000422.1:p.Thr237Ser	NC_000012.11:g.110028607A>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.728C>T (p.Thr243Ile)	4598	MVK	not provided	104895314	RCV000083865;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110028626	110028626	NM_000431.3:c.728C>T	NP_000422.1:p.Thr243Ile	NC_000012.11:g.110028626C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.737T>C (p.Leu246Pro)	4598	MVK	not provided	104895312	RCV000083867;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110028635	110028635	NM_000431.3:c.737T>C	NP_000422.1:p.Leu246Pro	NC_000012.11:g.110028635T>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.748G>A (p.Val250Ile)	4598	MVK	not provided	104895339	RCV000083868;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110028646	110028646	NM_000431.3:c.748G>A	NP_000422.1:p.Val250Ile	NC_000012.11:g.110028646G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.768+23G>C	4598	MVK	not provided	104895347	RCV000083870;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110028689	110028689	NM_000431.3:c.768+23G>C		NC_000012.11:g.110028689G>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.769-103C>T	4598	MVK	not provided	104895351	RCV000083871;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110028943	110028943	NM_000431.3:c.769-103C>T		NC_000012.11:g.110028943C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.769-7T>G	4598	MVK	not provided	104895331	RCV000083872;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029039	110029039	NM_000431.3:c.769-7T>G		NC_000012.11:g.110029039T>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.769-7dup	4598	MVK	not provided	104895348	RCV000083873;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029039	110029039	NM_000431.3:c.769-7dup		NC_000012.11:g.110029039dupT	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.790C>T (p.Leu264Phe)	4598	MVK	not provided	104895315	RCV000083877;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029067	110029067	NM_000431.3:c.790C>T	NP_000422.1:p.Leu264Phe	NC_000012.11:g.110029067C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.794T>C (p.Leu265Pro)	4598	MVK	not provided	104895316	RCV000083878;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029071	110029071	NM_000431.3:c.794T>C	NP_000422.1:p.Leu265Pro	NC_000012.11:g.110029071T>C,NC_000012.11:g.110029071T>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.794T>G (p.Leu265Arg)	4598	MVK	not provided	104895316	RCV000083879;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029071	110029071	NM_000431.3:c.794T>G	NP_000422.1:p.Leu265Arg	NC_000012.11:g.110029071T>C,NC_000012.11:g.110029071T>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.803T>C (p.Ile268Thr)	4598	MVK	Pathogenic	104895304	RCV000012710; RCV000012709; RCV000218157; RCV000191109;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:C1959626,OMIM:610377,ORPHA:29; MedGen:CN221809	12	110029080	110029080	NM_000431.3:c.803T>C	NP_000422.1:p.Ile268Thr	NC_000012.11:g.110029080T>C	OMIM Allelic Variant:251170.0004	C0398691 260920 Hyperimmunoglobulin D with periodic fever; C1959626 610377 Mevalonic aciduria; CN221809 not provided
NM_000431.3(MVK):c.815C>T (p.Ser272Phe)	4598	MVK	not provided	104895318	RCV000083881;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029092	110029092	NM_000431.3:c.815C>T	NP_000422.1:p.Ser272Phe	NC_000012.11:g.110029092C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.829C>T (p.Arg277Cys)	4598	MVK	not provided	104895321	RCV000083882;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029106	110029106	NM_000431.3:c.829C>T	NP_000422.1:p.Arg277Cys	NC_000012.11:g.110029106C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.830G>A (p.Arg277His)	4598	MVK	not provided	104895352	RCV000083883;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029107	110029107	NM_000431.3:c.830G>A	NP_000422.1:p.Arg277His	NC_000012.11:g.110029107G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.831C>T (p.Arg277=)	4598	MVK	not provided	104895353	RCV000083884;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029108	110029108	NM_000431.3:c.831C>T	NP_000422.1:p.Arg277=	NC_000012.11:g.110029108C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.857C>T (p.Pro286Leu)	4598	MVK	not provided	104895379	RCV000083885;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029134	110029134	NM_000431.3:c.857C>T	NP_000422.1:p.Pro286Leu	NC_000012.11:g.110029134C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.863C>T (p.Pro288Leu)	4598	MVK	not provided	104895355	RCV000083886;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029140	110029140	NM_000431.3:c.863C>T	NP_000422.1:p.Pro288Leu	NC_000012.11:g.110029140C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.877G>A (p.Val293Met)	4598	MVK	not provided	104895356	RCV000083888;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110029154	110029154	NM_000431.3:c.877G>A	NP_000422.1:p.Val293Met	NC_000012.11:g.110029154G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.925G>A (p.Gly309Ser)	4598	MVK	not provided	104895305	RCV000083889;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110032872	110032872	NM_000431.3:c.925G>A	NP_000422.1:p.Gly309Ser	NC_000012.11:g.110032872G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.928G>A (p.Val310Met)	4598	MVK	Pathogenic	104895319	RCV000012712; RCV000083890;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:C1959626,OMIM:610377,ORPHA:29	12	110032875	110032875	NM_000431.3:c.928G>A	NP_000422.1:p.Val310Met	NC_000012.11:g.110032875G>A	OMIM Allelic Variant:251170.0007	C0398691 260920 Hyperimmunoglobulin D with periodic fever; C1959626 610377 Mevalonic aciduria
NM_000431.3(MVK):c.965C>G (p.Thr322Ser)	4598	MVK	not provided	104895367	RCV000083891;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110032912	110032912	NM_000431.3:c.965C>G	NP_000422.1:p.Thr322Ser	NC_000012.11:g.110032912C>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.976G>A (p.Gly326Arg)	4598	MVK	not provided	104895308	RCV000083892;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110032923	110032923	NM_000431.3:c.976G>A	NP_000422.1:p.Gly326Arg	NC_000012.11:g.110032923G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.986G>A (p.Ser329Asn)	4598	MVK	not provided	104895350	RCV000083893;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110032933	110032933	NM_000431.3:c.986G>A	NP_000422.1:p.Ser329Asn	NC_000012.11:g.110032933G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.987C>A (p.Ser329Arg)	4598	MVK	not provided	104895326	RCV000083894;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110032934	110032934	NM_000431.3:c.987C>A	NP_000422.1:p.Ser329Arg	NC_000012.11:g.110032934C>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1000G>A (p.Ala334Thr)	4598	MVK	Pathogenic	104895317	RCV000012706; RCV000074422;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:C1959626,OMIM:610377,ORPHA:29	12	110032947	110032947	NM_000431.3:c.1000G>A	NP_000422.1:p.Ala334Thr	NC_000012.11:g.110032947G>A	OMIM Allelic Variant:251170.0006	C0398691 260920 Hyperimmunoglobulin D with periodic fever; C1959626 610377 Mevalonic aciduria
NM_000431.3(MVK):c.1005C>T (p.Gly335=)	4598	MVK	not provided	104895357	RCV000083812;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110032952	110032952	NM_000431.3:c.1005C>T	NP_000422.1:p.Gly335=	NC_000012.11:g.110032952C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1006G>A (p.Gly336Ser)	4598	MVK	not provided	104895358	RCV000083813;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110032953	110032953	NM_000431.3:c.1006G>A	NP_000422.1:p.Gly336Ser	NC_000012.11:g.110032953G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1039+1G>T	4598	MVK	not provided	104895362	RCV000083814;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110032987	110032987	NM_000431.3:c.1039+1G>T		NC_000012.11:g.110032987G>A,NC_000012.11:g.110032987G>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1067C>T (p.Thr356Met)	4598	MVK	not provided	104895342	RCV000083816;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110034258	110034258	NM_000431.3:c.1067C>T	NP_000422.1:p.Thr356Met	NC_000012.11:g.110034258C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1095_1098delTGAC (p.Asp366Alafs)	4598	MVK	not provided	104895372	RCV000083817;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110034286	110034289	NM_000431.3:c.1095_1098delTGAC	NP_000422.1:p.Asp366Alafs	NC_000012.11:g.110034286_110034289delTGAC	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1100G>C (p.Cys367Ser)	4598	MVK	not provided	104895359	RCV000083818;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110034291	110034291	NM_000431.3:c.1100G>C	NP_000422.1:p.Cys367Ser	NC_000012.11:g.110034291G>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1127G>T (p.Gly376Val)	4598	MVK	not provided	104895340	RCV000083819;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110034318	110034318	NM_000431.3:c.1127G>T	NP_000422.1:p.Gly376Val	NC_000012.11:g.110034318G>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1129G>A (p.Val377Ile)	4598	MVK	Pathogenic	28934897	RCV000012705; RCV000221789; RCV000191108;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:C1959626,OMIM:610377,ORPHA:29; MedGen:CN221809	12	110034320	110034320	NM_000431.3:c.1129G>A	NP_000422.1:p.Val377Ile	NC_000012.11:g.110034320G>A	OMIM Allelic Variant:251170.0002	C0398691 260920 Hyperimmunoglobulin D with periodic fever; C1959626 610377 Mevalonic aciduria; CN221809 not provided
NM_000431.3(MVK):c.1132T>C (p.Ser378Pro)	4598	MVK	not provided	104895349	RCV000083820;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110034323	110034323	NM_000431.3:c.1132T>C	NP_000422.1:p.Ser378Pro	NC_000012.11:g.110034323T>C	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1139A>G (p.His380Arg)	4598	MVK	not provided	104895324	RCV000083821;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110034330	110034330	NM_000431.3:c.1139A>G	NP_000422.1:p.His380Arg	NC_000012.11:g.110034330A>G	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1151C>T (p.Ser384Phe)	4598	MVK	not provided	104895383	RCV000083822;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110034342	110034342	NM_000431.3:c.1151C>T	NP_000422.1:p.Ser384Phe	NC_000012.11:g.110034342C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1156G>A (p.Asp386Asn)	4598	MVK	not provided	104895380	RCV000083823;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110034347	110034347	NM_000431.3:c.1156G>A	NP_000422.1:p.Asp386Asn	NC_000012.11:g.110034347G>A	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever
NM_000431.3(MVK):c.1162C>T (p.Arg388Ter)	4598	MVK	Pathogenic	104895360	RCV000083824; RCV000214882;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002; MedGen:CN221809	12	110034353	110034353	NM_000431.3:c.1162C>T	NP_000422.1:p.Arg388Ter	NC_000012.11:g.110034353C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever; CN221809 not provided
NM_000431.3(MVK):c.*11C>T	4598	MVK	not provided	104895345	RCV000083810;	N	MedGen:C0398691,OMIM:260920,ORPHA:343,SNOMED CT:234538002	12	110034393	110034393	NM_000431.3:c.*11C>T		NC_000012.11:g.110034393C>T	-	C0398691 260920 Hyperimmunoglobulin D with periodic fever