Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000431.4(MVK):c.902A>C (p.Asn301Thr)	SNV Germline	Chr12:109595044	Pathogenic	Mevalonic aciduria	No Assertion Criteria Provided	CA121774	rs_121917789	1 SubmittersRCV000012704
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	SNV Germline	Chr12:109596515	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not specified MVK-related disorder Porokeratosis 3, disseminated superficial actinic type Inborn genetic diseases Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA121776	rs_28934897	39 SubmittersRCV000012705 RCV000221789 RCV000191108 RCV000627780 RCV000999977 RCV000791161 RCV001270083 RCV002512987 RCV002262563
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)	SNV Germline	Chr12:109595142	Pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121778	rs_104895317	5 SubmittersRCV000012706 RCV000074422 RCV000688831 RCV003114187
NM_000431.4(MVK):c.59A>C (p.His20Pro)	SNV Germline	Chr12:109574881	Pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121780	rs_104895295	7 SubmittersRCV000012708 RCV000012707 RCV001240497 RCV001093432
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	SNV Germline	Chr12:109591275	Pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Condition: not provided Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not specified Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria MVK-related disorder Inborn genetic diseases Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA121782	rs_104895304	18 SubmittersRCV000012709 RCV000012710 RCV000218157 RCV000191109 RCV000505909 RCV000698175 RCV002255091 RCV002512988 RCV002262564
NM_000431.4(MVK):c.494C>T (p.Pro165Leu)	SNV Germline	Chr12:109581517	Likely pathogenic	Hyperimmunoglobulin D with periodic fever Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA121784	rs_121917790	2 SubmittersRCV000012711 RCV001219913
NM_000431.4(MVK):c.928G>A (p.Val310Met)	SNV Germline	Chr12:109595070	Pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA121787	rs_104895319	5 SubmittersRCV000012712 RCV000083890 RCV000414603 RCV000697433 RCV002262565
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)	SNV Germline	Chr12:109581523	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Multiple Submitters No Conflicts	CA130488	rs_104895300	6 SubmittersRCV000032937 RCV000445120 RCV003764651
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)	SNV Germline	Chr12:109586098	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Multiple Submitters No Conflicts	CA130490	rs_104895301	7 SubmittersRCV000032938 RCV000032939 RCV000032940 RCV001090935 RCV002496494
NM_000431.4(MVK):c.1067C>T (p.Thr356Met)	SNV Germline	Chr12:109596453	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA149774	rs_104895342	7 SubmittersRCV000083816 RCV000688571 RCV001588913 RCV002514463
NM_000431.4(MVK):c.1139A>G (p.His380Arg)	SNV Germline	Chr12:109596525	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided MVK-related disorder	Criteria Provided Conflicting Classifications	CA149786	rs_104895324	6 SubmittersRCV000083821 RCV000690628 RCV000757501 RCV004528781
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)	SNV Germline	Chr12:109596542	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA149792	rs_104895380	8 SubmittersRCV000083823 RCV000887171 RCV001701591 RCV002262659
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter)	SNV Germline	Chr12:109596548	Pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever MVK-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA149795	rs_104895360	7 SubmittersRCV000083824 RCV000214882 RCV001038569 RCV004529877
NM_000431.4(MVK):c.185G>A (p.Trp62Ter)	SNV Germline	Chr12:109576104	Pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA149801	rs_104895306	5 SubmittersRCV000083828 RCV001701662 RCV003764774
NM_000431.4(MVK):c.238G>A (p.Val80Ile)	SNV Germline	Chr12:109579813	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Condition: not provided Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Autoinflammatory syndrome MVK-related disorder	Criteria Provided Conflicting Classifications	CA149807	rs_76914224	12 SubmittersRCV000083830 RCV000726403 RCV001087442 RCV001114047 RCV002262660 RCV004529878
NM_000431.4(MVK):c.346T>C (p.Tyr116His)	SNV Germline	Chr12:109579921	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type See cases	Criteria Provided Multiple Submitters No Conflicts	CA149812	rs_104895382	6 SubmittersRCV000083833 RCV000220019 RCV000645101 RCV002251975
NM_000431.4(MVK):c.439G>A (p.Ala147Thr)	SNV Germline	Chr12:109581462	Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Multiple Submitters No Conflicts	CA149831	rs_104895363	3 SubmittersRCV000083843 RCV002514465
NM_000431.4(MVK):c.442G>A (p.Ala148Thr)	SNV Germline	Chr12:109581465	Pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts	CA149834	rs_104895298	3 SubmittersRCV000083844 RCV000214102 RCV001854464
NM_000431.4(MVK):c.564G>A (p.Trp188Ter)	SNV Germline	Chr12:109586058	Pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA149845	rs_104895311	8 SubmittersRCV000083849 RCV000725893 RCV001381668 RCV002262661
NM_000431.4(MVK):c.591C>T (p.His197=)	SNV Germline	Chr12:109586085	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Conflicting Classifications	CA149849	rs_104895329	8 SubmittersRCV000083851 RCV000396517 RCV000828083 RCV000645100
NM_000431.4(MVK):c.608T>C (p.Val203Ala)	SNV Germline	Chr12:109586102	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Multiple Submitters No Conflicts	CA149853	rs_104895332	4 SubmittersRCV000083853 RCV000217732 RCV000799676
NM_000431.4(MVK):c.60T>A (p.His20Gln)	SNV Germline	Chr12:109574882	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Multiple Submitters No Conflicts	CA149856	rs_104895335	3 SubmittersRCV000083854 RCV001509433 RCV003764776
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)	SNV Germline	Chr12:109586107	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Condition: not provided Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA149858	rs_104895364	5 SubmittersRCV000083855 RCV001857407 RCV001594835 RCV002262662
NM_000431.4(MVK):c.644G>A (p.Arg215Gln)	SNV Germline	Chr12:109586766	Pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA149870	rs_104895303	2 SubmittersRCV000083860 RCV001383593
NM_000431.4(MVK):c.709A>T (p.Thr237Ser)	SNV Germline	Chr12:109590802	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts	CA149879	rs_104895366	6 SubmittersRCV000083864 RCV000480950 RCV001381669
NM_000431.4(MVK):c.748G>A (p.Val250Ile)	SNV Germline	Chr12:109590841	Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA149887	rs_104895339	2 SubmittersRCV000083868 RCV002513866
NM_000431.4(MVK):c.790C>T (p.Leu264Phe)	SNV Germline	Chr12:109591262	Pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA149899	rs_104895315	2 SubmittersRCV000083877 RCV001381670
NM_000431.4(MVK):c.829C>T (p.Arg277Cys)	SNV Germline	Chr12:109591301	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA149909	rs_104895321	3 SubmittersRCV000083882 RCV002514466 RCV003480055
NM_000431.4(MVK):c.830G>A (p.Arg277His)	SNV Germline	Chr12:109591302	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA149912	rs_104895352	4 SubmittersRCV000083883 RCV000693669 RCV002262665
NM_000431.4(MVK):c.976G>A (p.Gly326Arg)	SNV Germline	Chr12:109595118	Pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA149933	rs_104895308	3 SubmittersRCV000083892 RCV002513867
NM_000431.4(MVK):c.441C>T (p.Ala147=)	SNV Germline	Chr12:109581464	Conflicting classifications of pathogenicity	not specified Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA292256	rs_138342076	10 SubmittersRCV000126897 RCV000726083 RCV001110797 RCV001112785 RCV001089231 RCV002262732
NM_000431.4(MVK):c.924C>T (p.Leu308=)	SNV Germline	Chr12:109595066	Conflicting classifications of pathogenicity	not specified Condition: not provided Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA208417	rs_72648042	13 SubmittersRCV000194317 RCV000724566 RCV001085707 RCV001110867 RCV001110868 RCV002262765
NM_000431.4(MVK):c.226+4A>G	SNV Germline	Chr12:109576149	Conflicting classifications of pathogenicity	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided Autoinflammatory syndrome MVK-related disorder	Criteria Provided Conflicting Classifications	CA6779169	rs_145732290	6 SubmittersRCV000533329 RCV001114046 RCV001114045 RCV001722201 RCV002262824 RCV004532813
NM_000431.4(MVK):c.643C>T (p.Arg215Ter)	SNV Germline	Chr12:109586765	Pathogenic	Condition: not provided Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Multiple Submitters No Conflicts	CA6779327	rs_758026399	2 SubmittersRCV000221444 RCV001215092
NM_000431.4(MVK):c.802A>G (p.Ile268Val)	SNV Germline	Chr12:109591274	Conflicting classifications of pathogenicity	Condition: not provided Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Conflicting Classifications	CA6779384	rs_759997079	2 SubmittersRCV000213141 RCV001340239
NM_000431.4(MVK):c.819G>A (p.Leu273=)	SNV Germline	Chr12:109591291	Conflicting classifications of pathogenicity	Condition: not provided Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Conflicting Classifications	CA10577434	rs_876661134	2 SubmittersRCV000218737 RCV003765447
NM_000431.4(MVK):c.876C>T (p.Leu292=)	SNV Germline	Chr12:109591348	Conflicting classifications of pathogenicity	not specified Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA6779399	rs_370301290	8 SubmittersRCV000237041 RCV000933984 RCV001110101 RCV001110866 RCV001528660 RCV002262858
NM_000431.4(MVK):c.78+8G>A	SNV Germline	Chr12:109574908	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Conflicting Classifications	CA6779142	rs_766391278	2 SubmittersRCV000316506 RCV000373574 RCV002056260
NM_000431.4(MVK):c.904C>T (p.Gln302Ter)	SNV Germline	Chr12:109595046	Conflicting classifications of pathogenicity	MVK-related disorder Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Conflicting Classifications	CA10636429	rs_886048933	3 SubmittersRCV000305900 RCV000489947 RCV001384473
NM_000431.4(MVK):c.371+13T>C	SNV Germline	Chr12:109579959	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Condition: not provided Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Conflicting Classifications	CA6779230	rs_201201471	4 SubmittersRCV000274865 RCV000367061 RCV001612973 RCV002056261
NM_000431.4(MVK):c.527+8T>C	SNV Germline	Chr12:109581558	Conflicting classifications of pathogenicity	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Conflicting Classifications	CA6779278	rs_377547988	2 SubmittersRCV000320816 RCV000377665 RCV001483816
NM_000431.4(MVK):c.527+13C>A	SNV Germline	Chr12:109581563	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Conflicting Classifications	CA6779280	rs_199670546	2 SubmittersRCV000290313 RCV002520784 RCV000347435
NM_000431.4(MVK):c.768+4A>G	SNV Germline	Chr12:109590865	Likely pathogenic	Mevalonic aciduria	Criteria Provided Single Submitter	CA658683791	rs_1295630463	1 SubmittersRCV000578362
NM_000431.4(MVK):c.936C>T (p.His312=)	SNV Germline	Chr12:109595078	Conflicting classifications of pathogenicity	Condition: not provided Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA481715256	rs_1212639017	2 SubmittersRCV000584990 RCV003767319
NM_000431.4(MVK):c.975C>T (p.Arg325=)	SNV Germline	Chr12:109595117	Conflicting classifications of pathogenicity	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA6779426	rs_748947620	4 SubmittersRCV000645105 RCV000994975 RCV002263886
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg)	SNV Germline	Chr12:109596575	Conflicting classifications of pathogenicity	Condition: not provided Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Conflicting Classifications		rs_1555279757	2 SubmittersRCV000657855 RCV001297383
NM_000431.4(MVK):c.545T>A (p.Leu182Ter)	SNV Germline	Chr12:109586039	Pathogenic/Likely pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type MVK-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1566147222	2 SubmittersRCV000695407 RCV004544947
NM_000431.4(MVK):c.614A>G (p.Asn205Ser)	SNV Germline	Chr12:109586108	Likely pathogenic	Condition: not provided Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter		rs_767853272	2 SubmittersRCV000723117 RCV002535041
NM_000431.4(MVK):c.58C>A (p.His20Asn)	SNV Germline	Chr12:109574880	Pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter		rs_11544299	1 SubmittersRCV000804120
NM_000431.4(MVK):c.1039+7C>T	SNV Germline	Chr12:109595188	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_370291700	2 SubmittersRCV000941045 RCV002264109
NM_000431.4(MVK):c.527+10G>A	SNV Germline	Chr12:109581560	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided	Criteria Provided Conflicting Classifications		rs_368909134	3 SubmittersRCV000974783 RCV001112788 RCV001114133 RCV003736946
NM_000431.4(MVK):c.945G>A (p.Leu315=)	SNV Germline	Chr12:109595087	Conflicting classifications of pathogenicity	not specified Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications		rs_752469036	3 SubmittersRCV001000904 RCV001370355 RCV003493769
NM_000431.4(MVK):c.380C>T (p.Pro127Leu)	SNV Germline	Chr12:109581403	Conflicting classifications of pathogenicity	Mevalonic aciduria Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_775474803	3 SubmittersRCV001002699 RCV003442138 RCV003890156
NM_000431.4(MVK):c.987C>G (p.Ser329Arg)	SNV Germline	Chr12:109595129	Pathogenic	Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria	Criteria Provided Single Submitter		rs_104895326	1 SubmittersRCV001052205
NM_000431.4(MVK):c.33G>A (p.Pro11=)	SNV Germline	Chr12:109574855	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_779289416	3 SubmittersRCV001112692 RCV001112693 RCV003769133 RCV003890254
NM_000431.4(MVK):c.258G>A (p.Glu86=)	SNV Germline	Chr12:109579833	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_139299227	3 SubmittersRCV001110009 RCV001114048 RCV001520566 RCV003890253
NM_000431.4(MVK):c.79-2A>G	SNV Germline	Chr12:109575996	Likely pathogenic	Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Multiple Submitters No Conflicts		rs_1884932883	2 SubmittersRCV003142150 RCV001213473
NM_000431.4(MVK):c.1126G>A (p.Gly376Ser)	SNV Germline	Chr12:109596512	Pathogenic	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Single Submitter		rs_971159663	1 SubmittersRCV001227276
NM_000431.4(MVK):c.78+1G>A	SNV Germline	Chr12:109574901	Likely pathogenic	Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter		rs_1884864809	1 SubmittersRCV001233803
NM_000431.4(MVK):c.512G>A (p.Gly171Glu)	SNV Germline	Chr12:109581535	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_753599820	3 SubmittersRCV001321804 RCV002543831 RCV003738041
NM_000431.4(MVK):c.799T>C (p.Ser267Pro)	SNV Germline	Chr12:109591271	Likely pathogenic	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Single Submitter		rs_1885666876	1 SubmittersRCV001348249
NM_000431.4(MVK):c.747C>T (p.Gly249=)	SNV Germline	Chr12:109590840	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_144788669	2 SubmittersRCV001455288 RCV002264332
NM_000431.4(MVK):c.1116C>T (p.Ile372=)	SNV Germline	Chr12:109596502	Conflicting classifications of pathogenicity	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Conflicting Classifications		rs_368066027	3 SubmittersRCV001476430
NM_000431.4(MVK):c.423G>A (p.Ala141=)	SNV Germline	Chr12:109581446	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications		rs_756068705	2 SubmittersRCV001923843
NM_000431.4(MVK):c.721C>T (p.Arg241Cys)	SNV Germline	Chr12:109590814	Likely pathogenic	Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter		rs_758427037	1 SubmittersRCV001969264
NM_000431.4(MVK):c.483C>T (p.Cys161=)	SNV Germline	Chr12:109581506	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications		rs_777886684	2 SubmittersRCV001968152
NM_000431.4(MVK):c.210G>T (p.Leu70=)	SNV Germline	Chr12:109576129	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications		rs_199811011	2 SubmittersRCV002262073 RCV003774820
NM_000431.4(MVK):c.999C>T (p.Gly333=)	SNV Germline	Chr12:109595141	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications		rs_147904100	2 SubmittersRCV002262077 RCV003095940
NM_000431.4(MVK):c.768+71C>A	SNV Germline	Chr12:109590932	Likely pathogenic	Mevalonic aciduria	No Assertion Criteria Provided			1 SubmittersRCV002509768
NM_000431.4(MVK):c.893T>C (p.Ile298Thr)	SNV Germline	Chr12:109595035	Likely pathogenic	Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV003062543
NM_000431.4(MVK):c.677+1G>T	SNV Germline	Chr12:109586800	Likely pathogenic	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Single Submitter			1 SubmittersRCV002846993
NM_000431.4(MVK):c.632-2A>C	SNV Germline	Chr12:109586752	Likely pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV002872701
NM_000431.4(MVK):c.671T>G (p.Leu224Ter)	SNV Germline	Chr12:109586793	Pathogenic	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Single Submitter			1 SubmittersRCV003020765
NM_000431.4(MVK):c.500C>A (p.Pro167Gln)	SNV Germline	Chr12:109581523	Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter			1 SubmittersRCV003008474
NM_000431.4(MVK):c.312C>T (p.Thr104=)	SNV Germline	Chr12:109579887	Conflicting classifications of pathogenicity	Condition: not provided Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications			2 SubmittersRCV003391990 RCV003778388
NM_000431.4(MVK):c.126A>G (p.Gln42=)	SNV Germline	Chr12:109576045	Conflicting classifications of pathogenicity	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Retinal dystrophy	Criteria Provided Conflicting Classifications			2 SubmittersRCV003795981 RCV003889337
NM_000431.4(MVK):c.1A>C (p.Met1Leu)	SNV Germline	Chr12:109574823	Pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV003783599
NM_000431.4(MVK):c.976G>T (p.Gly326Ter)	SNV Germline	Chr12:109595118	Pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV003804127
NM_000431.4(MVK):c.690C>G (p.Leu230=)	SNV Germline	Chr12:109590783	Conflicting classifications of pathogenicity	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Retinal dystrophy	Criteria Provided Conflicting Classifications			2 SubmittersRCV003798665 RCV003889338
NM_000431.4(MVK):c.712A>T (p.Lys238Ter)	SNV Germline	Chr12:109590805	Pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV003801959
NM_000431.4(MVK):c.1072C>T (p.Gln358Ter)	SNV Germline	Chr12:109596458	Pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter			1 SubmittersRCV003815725
NM_000431.4(MVK):c.629G>A (p.Trp210Ter)	SNV Germline	Chr12:109586123	Pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV003815273

SNV
Germline

Chr12:109595044

Pathogenic

Mevalonic aciduria

No Assertion Criteria Provided

CA121774

rs_121917789

1 SubmittersRCV000012704

NM_000431.4(MVK):c.1129G>A (p.Val377Ile)

SNV
Germline

Chr12:109596515

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
not specified
MVK-related disorder
Porokeratosis 3, disseminated superficial actinic type
Inborn genetic diseases
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA121776

rs_28934897

39 SubmittersRCV000012705 RCV000221789 RCV000191108 RCV000627780 RCV000999977 RCV000791161 RCV001270083 RCV002512987 RCV002262563

NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)

SNV
Germline

Chr12:109595142

Pathogenic

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121778

rs_104895317

5 SubmittersRCV000012706 RCV000074422 RCV000688831 RCV003114187

NM_000431.4(MVK):c.59A>C (p.His20Pro)

SNV
Germline

Chr12:109574881

Pathogenic

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121780

rs_104895295

7 SubmittersRCV000012708 RCV000012707 RCV001240497 RCV001093432

NM_000431.4(MVK):c.803T>C (p.Ile268Thr)

SNV
Germline

Chr12:109591275

Pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Condition: not provided
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
not specified
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
MVK-related disorder
Inborn genetic diseases
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA121782

rs_104895304

18 SubmittersRCV000012709 RCV000012710 RCV000218157 RCV000191109 RCV000505909 RCV000698175 RCV002255091 RCV002512988 RCV002262564

NM_000431.4(MVK):c.494C>T (p.Pro165Leu)

SNV
Germline

Chr12:109581517

Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

CA121784

rs_121917790

2 SubmittersRCV000012711 RCV001219913

NM_000431.4(MVK):c.928G>A (p.Val310Met)

SNV
Germline

Chr12:109595070

Pathogenic

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Condition: not provided
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA121787

rs_104895319

5 SubmittersRCV000012712 RCV000083890 RCV000414603 RCV000697433 RCV002262565

NM_000431.4(MVK):c.500C>T (p.Pro167Leu)

SNV
Germline

Chr12:109581523

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Multiple Submitters
No Conflicts

CA130488

rs_104895300

6 SubmittersRCV000032937 RCV000445120 RCV003764651

NM_000431.4(MVK):c.604G>A (p.Gly202Arg)

SNV
Germline

Chr12:109586098

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Condition: not provided
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Multiple Submitters
No Conflicts

CA130490

rs_104895301

7 SubmittersRCV000032938 RCV000032939 RCV000032940 RCV001090935 RCV002496494

NM_000431.4(MVK):c.1067C>T (p.Thr356Met)

SNV
Germline

Chr12:109596453

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA149774

rs_104895342

7 SubmittersRCV000083816 RCV000688571 RCV001588913 RCV002514463

NM_000431.4(MVK):c.1139A>G (p.His380Arg)

SNV
Germline

Chr12:109596525

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Condition: not provided
MVK-related disorder

Criteria Provided
Conflicting Classifications

CA149786

rs_104895324

6 SubmittersRCV000083821 RCV000690628 RCV000757501 RCV004528781

NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)

SNV
Germline

Chr12:109596542

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA149792

rs_104895380

8 SubmittersRCV000083823 RCV000887171 RCV001701591 RCV002262659

NM_000431.4(MVK):c.1162C>T (p.Arg388Ter)

SNV
Germline

Chr12:109596548

Pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
MVK-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA149795

rs_104895360

7 SubmittersRCV000083824 RCV000214882 RCV001038569 RCV004529877

NM_000431.4(MVK):c.185G>A (p.Trp62Ter)

SNV
Germline

Chr12:109576104

Pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

CA149801

rs_104895306

5 SubmittersRCV000083828 RCV001701662 RCV003764774

NM_000431.4(MVK):c.238G>A (p.Val80Ile)

SNV
Germline

Chr12:109579813

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Autoinflammatory syndrome
MVK-related disorder

Criteria Provided
Conflicting Classifications

CA149807

rs_76914224

12 SubmittersRCV000083830 RCV000726403 RCV001087442 RCV001114047 RCV002262660 RCV004529878

NM_000431.4(MVK):c.346T>C (p.Tyr116His)

SNV
Germline

Chr12:109579921

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA149812

rs_104895382

6 SubmittersRCV000083833 RCV000220019 RCV000645101 RCV002251975

NM_000431.4(MVK):c.439G>A (p.Ala147Thr)

SNV
Germline

Chr12:109581462

Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Multiple Submitters
No Conflicts

CA149831

rs_104895363

3 SubmittersRCV000083843 RCV002514465

NM_000431.4(MVK):c.442G>A (p.Ala148Thr)

SNV
Germline

Chr12:109581465

Pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Multiple Submitters
No Conflicts

CA149834

rs_104895298

3 SubmittersRCV000083844 RCV000214102 RCV001854464

NM_000431.4(MVK):c.564G>A (p.Trp188Ter)

SNV
Germline

Chr12:109586058

Pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA149845

rs_104895311

8 SubmittersRCV000083849 RCV000725893 RCV001381668 RCV002262661

NM_000431.4(MVK):c.591C>T (p.His197=)

SNV
Germline

Chr12:109586085

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Condition: not provided
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Conflicting Classifications

CA149849

rs_104895329

8 SubmittersRCV000083851 RCV000396517 RCV000828083 RCV000645100

NM_000431.4(MVK):c.608T>C (p.Val203Ala)

SNV
Germline

Chr12:109586102

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Multiple Submitters
No Conflicts

CA149853

rs_104895332

4 SubmittersRCV000083853 RCV000217732 RCV000799676

NM_000431.4(MVK):c.60T>A (p.His20Gln)

SNV
Germline

Chr12:109574882

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Multiple Submitters
No Conflicts

CA149856

rs_104895335

3 SubmittersRCV000083854 RCV001509433 RCV003764776

NM_000431.4(MVK):c.613A>G (p.Asn205Asp)

SNV
Germline

Chr12:109586107

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA149858

rs_104895364

5 SubmittersRCV000083855 RCV001857407 RCV001594835 RCV002262662

NM_000431.4(MVK):c.644G>A (p.Arg215Gln)

SNV
Germline

Chr12:109586766

Pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

CA149870

rs_104895303

2 SubmittersRCV000083860 RCV001383593

NM_000431.4(MVK):c.709A>T (p.Thr237Ser)

SNV
Germline

Chr12:109590802

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Condition: not provided
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Multiple Submitters
No Conflicts

CA149879

rs_104895366

6 SubmittersRCV000083864 RCV000480950 RCV001381669

NM_000431.4(MVK):c.748G>A (p.Val250Ile)

SNV
Germline

Chr12:109590841

Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

CA149887

rs_104895339

2 SubmittersRCV000083868 RCV002513866

NM_000431.4(MVK):c.790C>T (p.Leu264Phe)

SNV
Germline

Chr12:109591262

Pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

CA149899

rs_104895315

2 SubmittersRCV000083877 RCV001381670

NM_000431.4(MVK):c.829C>T (p.Arg277Cys)

SNV
Germline

Chr12:109591301

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA149909

rs_104895321

3 SubmittersRCV000083882 RCV002514466 RCV003480055

NM_000431.4(MVK):c.830G>A (p.Arg277His)

SNV
Germline

Chr12:109591302

Pathogenic/Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA149912

rs_104895352

4 SubmittersRCV000083883 RCV000693669 RCV002262665

NM_000431.4(MVK):c.976G>A (p.Gly326Arg)

SNV
Germline

Chr12:109595118

Pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

CA149933

rs_104895308

3 SubmittersRCV000083892 RCV002513867

NM_000431.4(MVK):c.441C>T (p.Ala147=)

SNV
Germline

Chr12:109581464

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA292256

rs_138342076

10 SubmittersRCV000126897 RCV000726083 RCV001110797 RCV001112785 RCV001089231 RCV002262732

NM_000431.4(MVK):c.924C>T (p.Leu308=)

SNV
Germline

Chr12:109595066

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA208417

rs_72648042

13 SubmittersRCV000194317 RCV000724566 RCV001085707 RCV001110867 RCV001110868 RCV002262765

NM_000431.4(MVK):c.226+4A>G

SNV
Germline

Chr12:109576149

Conflicting classifications of pathogenicity

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Condition: not provided
Autoinflammatory syndrome
MVK-related disorder

Criteria Provided
Conflicting Classifications

CA6779169

rs_145732290

6 SubmittersRCV000533329 RCV001114046 RCV001114045 RCV001722201 RCV002262824 RCV004532813

NM_000431.4(MVK):c.643C>T (p.Arg215Ter)

SNV
Germline

Chr12:109586765

Pathogenic

Condition: not provided
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Multiple Submitters
No Conflicts

CA6779327

rs_758026399

2 SubmittersRCV000221444 RCV001215092

NM_000431.4(MVK):c.802A>G (p.Ile268Val)

SNV
Germline

Chr12:109591274

Conflicting classifications of pathogenicity

Condition: not provided
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Conflicting Classifications

CA6779384

rs_759997079

2 SubmittersRCV000213141 RCV001340239

NM_000431.4(MVK):c.819G>A (p.Leu273=)

SNV
Germline

Chr12:109591291

Conflicting classifications of pathogenicity

Condition: not provided
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Conflicting Classifications

CA10577434

rs_876661134

2 SubmittersRCV000218737 RCV003765447

NM_000431.4(MVK):c.876C>T (p.Leu292=)

SNV
Germline

Chr12:109591348

Conflicting classifications of pathogenicity

not specified
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA6779399

rs_370301290

8 SubmittersRCV000237041 RCV000933984 RCV001110101 RCV001110866 RCV001528660 RCV002262858

NM_000431.4(MVK):c.78+8G>A

SNV
Germline

Chr12:109574908

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Conflicting Classifications

CA6779142

rs_766391278

2 SubmittersRCV000316506 RCV000373574 RCV002056260

NM_000431.4(MVK):c.904C>T (p.Gln302Ter)

SNV
Germline

Chr12:109595046

Conflicting classifications of pathogenicity

MVK-related disorder
Condition: not provided
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Conflicting Classifications

CA10636429

rs_886048933

3 SubmittersRCV000305900 RCV000489947 RCV001384473

NM_000431.4(MVK):c.371+13T>C

SNV
Germline

Chr12:109579959

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Condition: not provided
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria

Criteria Provided
Conflicting Classifications

CA6779230

rs_201201471

4 SubmittersRCV000274865 RCV000367061 RCV001612973 RCV002056261

NM_000431.4(MVK):c.527+8T>C

SNV
Germline

Chr12:109581558

Conflicting classifications of pathogenicity

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Conflicting Classifications

CA6779278

rs_377547988

2 SubmittersRCV000320816 RCV000377665 RCV001483816

NM_000431.4(MVK):c.527+13C>A

SNV
Germline

Chr12:109581563

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria

Criteria Provided
Conflicting Classifications

CA6779280

rs_199670546

2 SubmittersRCV000290313 RCV002520784 RCV000347435

NM_000431.4(MVK):c.768+4A>G

SNV
Germline

Chr12:109590865

Likely pathogenic

Mevalonic aciduria

Criteria Provided
Single Submitter

CA658683791

rs_1295630463

1 SubmittersRCV000578362

NM_000431.4(MVK):c.936C>T (p.His312=)

SNV
Germline

Chr12:109595078

Conflicting classifications of pathogenicity

Condition: not provided
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Conflicting Classifications

CA481715256

rs_1212639017

2 SubmittersRCV000584990 RCV003767319

NM_000431.4(MVK):c.975C>T (p.Arg325=)

SNV
Germline

Chr12:109595117

Conflicting classifications of pathogenicity

Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA6779426

rs_748947620

4 SubmittersRCV000645105 RCV000994975 RCV002263886

NM_000431.4(MVK):c.1189T>C (p.Ter397Arg)

SNV
Germline

Chr12:109596575

Conflicting classifications of pathogenicity

Condition: not provided
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria

Criteria Provided
Conflicting Classifications

rs_1555279757

2 SubmittersRCV000657855 RCV001297383

NM_000431.4(MVK):c.545T>A (p.Leu182Ter)

SNV
Germline

Chr12:109586039

Pathogenic/Likely pathogenic

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
MVK-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566147222

2 SubmittersRCV000695407 RCV004544947

NM_000431.4(MVK):c.614A>G (p.Asn205Ser)

SNV
Germline

Chr12:109586108

Likely pathogenic

Condition: not provided
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

rs_767853272

2 SubmittersRCV000723117 RCV002535041

NM_000431.4(MVK):c.58C>A (p.His20Asn)

SNV
Germline

Chr12:109574880

Pathogenic

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

rs_11544299

1 SubmittersRCV000804120

NM_000431.4(MVK):c.1039+7C>T

SNV
Germline

Chr12:109595188

Conflicting classifications of pathogenicity

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_370291700

2 SubmittersRCV000941045 RCV002264109

NM_000431.4(MVK):c.527+10G>A

SNV
Germline

Chr12:109581560

Conflicting classifications of pathogenicity

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368909134

3 SubmittersRCV000974783 RCV001112788 RCV001114133 RCV003736946

NM_000431.4(MVK):c.945G>A (p.Leu315=)

SNV
Germline

Chr12:109595087

Conflicting classifications of pathogenicity

not specified
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Conflicting Classifications

rs_752469036

3 SubmittersRCV001000904 RCV001370355 RCV003493769

NM_000431.4(MVK):c.380C>T (p.Pro127Leu)

SNV
Germline

Chr12:109581403

Conflicting classifications of pathogenicity

Mevalonic aciduria
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_775474803

3 SubmittersRCV001002699 RCV003442138 RCV003890156

NM_000431.4(MVK):c.987C>G (p.Ser329Arg)

SNV
Germline

Chr12:109595129

Pathogenic

Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria

Criteria Provided
Single Submitter

rs_104895326

1 SubmittersRCV001052205

NM_000431.4(MVK):c.33G>A (p.Pro11=)

SNV
Germline

Chr12:109574855

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_779289416

3 SubmittersRCV001112692 RCV001112693 RCV003769133 RCV003890254

NM_000431.4(MVK):c.258G>A (p.Glu86=)

SNV
Germline

Chr12:109579833

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_139299227

3 SubmittersRCV001110009 RCV001114048 RCV001520566 RCV003890253

NM_000431.4(MVK):c.79-2A>G

SNV
Germline

Chr12:109575996

Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1884932883

2 SubmittersRCV003142150 RCV001213473

NM_000431.4(MVK):c.1126G>A (p.Gly376Ser)

SNV
Germline

Chr12:109596512

Pathogenic

Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria

Criteria Provided
Single Submitter

rs_971159663

1 SubmittersRCV001227276

NM_000431.4(MVK):c.78+1G>A

SNV
Germline

Chr12:109574901

Likely pathogenic

Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Single Submitter

rs_1884864809

1 SubmittersRCV001233803

NM_000431.4(MVK):c.512G>A (p.Gly171Glu)

SNV
Germline

Chr12:109581535

Conflicting classifications of pathogenicity

Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753599820

3 SubmittersRCV001321804 RCV002543831 RCV003738041

NM_000431.4(MVK):c.799T>C (p.Ser267Pro)

SNV
Germline

Chr12:109591271

Likely pathogenic

Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria

Criteria Provided
Single Submitter

rs_1885666876

1 SubmittersRCV001348249

NM_000431.4(MVK):c.747C>T (p.Gly249=)

SNV
Germline

Chr12:109590840

Conflicting classifications of pathogenicity

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_144788669

2 SubmittersRCV001455288 RCV002264332

NM_000431.4(MVK):c.1116C>T (p.Ile372=)

SNV
Germline

Chr12:109596502

Conflicting classifications of pathogenicity

Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria

Criteria Provided
Conflicting Classifications

rs_368066027

3 SubmittersRCV001476430

NM_000431.4(MVK):c.423G>A (p.Ala141=)

SNV
Germline

Chr12:109581446

Conflicting classifications of pathogenicity

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Conflicting Classifications

rs_756068705

2 SubmittersRCV001923843

NM_000431.4(MVK):c.721C>T (p.Arg241Cys)

SNV
Germline

Chr12:109590814

Likely pathogenic

Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Single Submitter

rs_758427037

1 SubmittersRCV001969264

NM_000431.4(MVK):c.483C>T (p.Cys161=)

SNV
Germline

Chr12:109581506

Conflicting classifications of pathogenicity

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Conflicting Classifications

rs_777886684

2 SubmittersRCV001968152

NM_000431.4(MVK):c.210G>T (p.Leu70=)

SNV
Germline

Chr12:109576129

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Conflicting Classifications

rs_199811011

2 SubmittersRCV002262073 RCV003774820

NM_000431.4(MVK):c.999C>T (p.Gly333=)

SNV
Germline

Chr12:109595141

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Conflicting Classifications

rs_147904100

2 SubmittersRCV002262077 RCV003095940

NM_000431.4(MVK):c.768+71C>A

SNV
Germline

Chr12:109590932

Likely pathogenic

Mevalonic aciduria

No Assertion Criteria Provided

1 SubmittersRCV002509768

NM_000431.4(MVK):c.893T>C (p.Ile298Thr)

SNV
Germline

Chr12:109595035

Likely pathogenic

Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Single Submitter

1 SubmittersRCV003062543

NM_000431.4(MVK):c.677+1G>T

SNV
Germline

Chr12:109586800

Likely pathogenic

Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria

Criteria Provided
Single Submitter

1 SubmittersRCV002846993

NM_000431.4(MVK):c.632-2A>C

SNV
Germline

Chr12:109586752

Likely pathogenic

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Single Submitter

1 SubmittersRCV002872701

NM_000431.4(MVK):c.671T>G (p.Leu224Ter)

SNV
Germline

Chr12:109586793

Pathogenic

Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria

Criteria Provided
Single Submitter

1 SubmittersRCV003020765

NM_000431.4(MVK):c.500C>A (p.Pro167Gln)

SNV
Germline

Chr12:109581523

Likely pathogenic

Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

1 SubmittersRCV003008474

NM_000431.4(MVK):c.312C>T (p.Thr104=)

SNV
Germline

Chr12:109579887

Conflicting classifications of pathogenicity

Condition: not provided
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003391990 RCV003778388

NM_000431.4(MVK):c.126A>G (p.Gln42=)

SNV
Germline

Chr12:109576045

Conflicting classifications of pathogenicity

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Retinal dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003795981 RCV003889337

NM_000431.4(MVK):c.1A>C (p.Met1Leu)

SNV
Germline

Chr12:109574823

Pathogenic

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Single Submitter

1 SubmittersRCV003783599

NM_000431.4(MVK):c.976G>T (p.Gly326Ter)

SNV
Germline

Chr12:109595118

Pathogenic

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Single Submitter

1 SubmittersRCV003804127

NM_000431.4(MVK):c.690C>G (p.Leu230=)

SNV
Germline

Chr12:109590783

Conflicting classifications of pathogenicity

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Retinal dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003798665 RCV003889338

NM_000431.4(MVK):c.712A>T (p.Lys238Ter)

SNV
Germline

Chr12:109590805

Pathogenic

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Single Submitter

1 SubmittersRCV003801959

NM_000431.4(MVK):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr12:109596458

Pathogenic

Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Single Submitter

1 SubmittersRCV003815725

NM_000431.4(MVK):c.629G>A (p.Trp210Ter)

SNV
Germline

Chr12:109586123

Pathogenic

Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Single Submitter

1 SubmittersRCV003815273