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 Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Condition: not provided Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria MVK-related disorder not specified Porokeratosis 3, disseminated superficial actinic type Autoinflammatory syndrome Inborn genetic diseases Mevalonic aciduria Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA121776	rs_28934897	46 SubmittersRCV000012705 RCV000191108 RCV000221789 RCV000627780 RCV000791161 RCV000999977 RCV001270083 RCV002262563 RCV002512987 RCV004783724 RCV004814886
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)	SNV Germline	Chr12:109595142	Pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA121778	rs_104895317	8 SubmittersRCV000012706 RCV000074422 RCV000688831 RCV003114187 RCV004795398 RCV004814887
NM_000431.4(MVK):c.59A>C (p.His20Pro)	SNV Germline	Chr12:109574881	Pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria	Criteria Provided Multiple Submitters No Conflicts	CA121780	rs_104895295	8 SubmittersRCV000012708 RCV000012707 RCV001093432 RCV001240497
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	SNV Germline	Chr12:109591275	Pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not specified Inborn genetic diseases MVK-related disorder Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Retinal dystrophy Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA121782	rs_104895304	21 SubmittersRCV000012710 RCV000012709 RCV000218157 RCV000698175 RCV000505909 RCV002512988 RCV002255091 RCV000191109 RCV004814888 RCV002262564
NM_000431.4(MVK):c.494C>T (p.Pro165Leu)	SNV Germline	Chr12:109581517	Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	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	6 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	7 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 Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts	CA130490	rs_104895301	8 SubmittersRCV000032938 RCV000032939 RCV000032940 RCV001090935 RCV002496494
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser)	SNV Germline	Chr12:109595148	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	CA149767	rs_104895358	5 SubmittersRCV000083813 RCV004689451 RCV005003459
NM_000431.4(MVK):c.1067C>T (p.Thr356Met)	SNV Germline	Chr12:109596453	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Condition: not provided Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA149774	rs_104895342	9 SubmittersRCV000083816 RCV001588913 RCV000688571 RCV004815019 RCV002514463
NM_000431.4(MVK):c.1139A>G (p.His380Arg)	SNV Germline	Chr12:109596525	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Condition: not provided Mevalonic aciduria MVK-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA149786	rs_104895324	8 SubmittersRCV000083821 RCV000690628 RCV000757501 RCV004593988 RCV004528781
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)	SNV Germline	Chr12:109596542	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA149792	rs_104895380	9 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 Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type 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 Multiple Submitters No Conflicts	CA149801	rs_104895306	6 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 Autoinflammatory syndrome Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria MVK-related disorder not specified	Criteria Provided Conflicting Classifications	CA149807	rs_76914224	13 SubmittersRCV000083830 RCV000726403 RCV002262660 RCV001087442 RCV001114047 RCV004529878 RCV005237528
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 MVK-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA149812	rs_104895382	8 SubmittersRCV000083833 RCV000220019 RCV000645101 RCV002251975 RCV005229891
NM_000431.4(MVK):c.37A>T (p.Lys13Ter)	SNV Germline	Chr12:109574859	Pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA149822	rs_104895307	2 SubmittersRCV000083837 RCV005003460
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	4 SubmittersRCV000083843 RCV002514465
NM_000431.4(MVK):c.442G>A (p.Ala148Thr)	SNV Germline	Chr12:109581465	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Retinal dystrophy Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts	CA149834	rs_104895298	6 SubmittersRCV000083844 RCV000214102 RCV004815020 RCV001854464
NM_000431.4(MVK):c.447C>G (p.Tyr149Ter)	SNV Germline	Chr12:109581470	Pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA149836	rs_104895299	2 SubmittersRCV000083845 RCV005222743
NM_000431.4(MVK):c.564G>A (p.Trp188Ter)	SNV Germline	Chr12:109586058	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	CA149845	rs_104895311	8 SubmittersRCV000083849 RCV001381668 RCV000725893 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 Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Condition: not provided	Criteria Provided Conflicting Classifications	CA149849	rs_104895329	8 SubmittersRCV000083851 RCV000645100 RCV000396517 RCV000828083
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	5 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	4 SubmittersRCV000083854 RCV001509433 RCV003764776
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)	SNV Germline	Chr12:109586107	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Autoinflammatory syndrome Mevalonic aciduria	Criteria Provided Multiple Submitters No Conflicts	CA149858	rs_104895364	8 SubmittersRCV000083855 RCV001594835 RCV001857407 RCV002262662 RCV004767066
NM_000431.4(MVK):c.644G>A (p.Arg215Gln)	SNV Germline	Chr12:109586766	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria	Criteria Provided Multiple Submitters No Conflicts	CA149870	rs_104895303	3 SubmittersRCV000083860 RCV001383593 RCV004786362
NM_000431.4(MVK):c.709A>T (p.Thr237Ser)	SNV Germline	Chr12:109590802	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever Condition: not provided Mevalonic aciduria Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts	CA149879	rs_104895366	7 SubmittersRCV000083864 RCV000480950 RCV004593989 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 Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Multiple Submitters No Conflicts	CA149899	rs_104895315	3 SubmittersRCV000083877 RCV004700401 RCV001381670
NM_000431.4(MVK):c.815C>T (p.Ser272Phe)	SNV Germline	Chr12:109591287	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Condition: not provided Autoinflammatory syndrome Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA149906	rs_104895318	4 SubmittersRCV000083881 RCV004566976 RCV002262664 RCV005222744
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	4 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.925G>A (p.Gly309Ser)	SNV Germline	Chr12:109595067	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 Single Submitter	CA149928	rs_104895305	4 SubmittersRCV000083889 RCV005003461 RCV001701744
NM_000431.4(MVK):c.976G>A (p.Gly326Arg)	SNV Germline	Chr12:109595118	Pathogenic/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	CA149933	rs_104895308	4 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 Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA292256	rs_138342076	10 SubmittersRCV000126897 RCV000726083 RCV001089231 RCV001110797 RCV001112785 RCV002262732
NM_000431.4(MVK):c.924C>T (p.Leu308=)	SNV Germline	Chr12:109595066	Conflicting classifications of pathogenicity	not specified Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Autoinflammatory syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA208417	rs_72648042	14 SubmittersRCV000194317 RCV001085707 RCV000724566 RCV001110867 RCV001110868 RCV002262765 RCV004816257
NM_000431.4(MVK):c.226+4A>G	SNV Germline	Chr12:109576149	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 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 Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	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 Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	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 Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	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 Hyperimmunoglobulin D with periodic fever Autoinflammatory syndrome Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Condition: not provided	Criteria Provided Conflicting Classifications	CA6779399	rs_370301290	8 SubmittersRCV000237041 RCV001110866 RCV002262858 RCV000933984 RCV001110101 RCV001528660
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 Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA6779142	rs_766391278	2 SubmittersRCV000316506 RCV000373574 RCV002056260
NM_000431.4(MVK):c.904C>T (p.Gln302Ter)	SNV Germline	Chr12:109595046	Pathogenic/Likely pathogenic	Condition: not provided Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts	CA10636429	rs_886048933	2 SubmittersRCV000489947 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 not specified	Criteria Provided Conflicting Classifications	CA6779230	rs_201201471	5 SubmittersRCV000274865 RCV000367061 RCV001612973 RCV002056261 RCV005407036
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 Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	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 Mevalonic aciduria Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA6779280	rs_199670546	2 SubmittersRCV000290313 RCV000347435 RCV002520784
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 Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type 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 Mevalonic aciduria Hyperimmunoglobulin D with periodic fever 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	CA386651519	rs_1555279757	2 SubmittersRCV000657855 RCV001297383
NM_000431.4(MVK):c.545T>A (p.Leu182Ter)	SNV Germline	Chr12:109586039	Pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type MVK-related disorder	Criteria Provided Single Submitter	CA386647464	rs_1566147222	2 SubmittersRCV000695407 RCV004544947
NM_000431.4(MVK):c.614A>G (p.Asn205Ser)	SNV Germline	Chr12:109586108	Likely pathogenic	Condition: not provided Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA6779308	rs_767853272	2 SubmittersRCV000723117 RCV002535041
NM_000431.4(MVK):c.58C>A (p.His20Asn)	SNV Germline	Chr12:109574880	Pathogenic	Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts	CA243452160	rs_11544299	2 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	CA6779431	rs_370291700	2 SubmittersRCV000941045 RCV002264109
NM_000431.4(MVK):c.527+10G>A	SNV Germline	Chr12:109581560	Conflicting classifications of pathogenicity	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided	Criteria Provided Conflicting Classifications	CA6779279	rs_368909134	3 SubmittersRCV000974783 RCV001112788 RCV001114133 RCV003736946
NM_000431.4(MVK):c.945G>A (p.Leu315=)	SNV Germline	Chr12:109595087	Conflicting classifications of pathogenicity	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not specified Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA6779423	rs_752469036	3 SubmittersRCV001370355 RCV001000904 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 Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria	Criteria Provided Conflicting Classifications	CA6779248	rs_775474803	5 SubmittersRCV001002699 RCV003442138 RCV003890156 RCV005004477
NM_000431.4(MVK):c.298G>A (p.Asp100Asn)	SNV Germline	Chr12:109579873	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	CA6779212	rs_751713601	4 SubmittersRCV001070922 RCV001090934 RCV002264178
NM_000431.4(MVK):c.987C>G (p.Ser329Arg)	SNV Germline	Chr12:109595129	Conflicting classifications of pathogenicity	Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided	Criteria Provided Conflicting Classifications	CA386650817	rs_104895326	2 SubmittersRCV001052205 RCV004702606
NM_000431.4(MVK):c.927C>T (p.Gly309=)	SNV Germline	Chr12:109595069	Conflicting classifications of pathogenicity	Condition: not provided Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Conflicting Classifications	CA6779418	rs_762580578	3 SubmittersRCV001090936 RCV001862684
NM_000431.4(MVK):c.33G>A (p.Pro11=)	SNV Germline	Chr12:109574855	Conflicting classifications of pathogenicity	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6779130	rs_779289416	4 SubmittersRCV001112693 RCV001112692 RCV003769133 RCV003890254
NM_000431.4(MVK):c.178C>T (p.Arg60Trp)	SNV Germline	Chr12:109576097	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6779162	rs_202167435	4 SubmittersRCV001114043 RCV001114044 RCV001811663 RCV001856503 RCV005443238
NM_000431.4(MVK):c.258G>A (p.Glu86=)	SNV Germline	Chr12:109579833	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6779208	rs_139299227	3 SubmittersRCV001110009 RCV001114048 RCV001520566 RCV003890253
NM_000431.4(MVK):c.79-2A>G	SNV Germline	Chr12:109575996	Likely pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts	CA386643173	rs_1884932883	2 SubmittersRCV001213473 RCV003142150
NM_000431.4(MVK):c.1126G>A (p.Gly376Ser)	SNV Germline	Chr12:109596512	Pathogenic/Likely pathogenic	Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA243462647	rs_971159663	2 SubmittersRCV001227276 RCV004794511
NM_000431.4(MVK):c.681G>A (p.Ser227=)	SNV Germline	Chr12:109590774	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Conflicting Classifications	CA6779346	rs_764412001	2 SubmittersRCV001247038
NM_000431.4(MVK):c.78+1G>A	SNV Germline	Chr12:109574901	Likely pathogenic	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Multiple Submitters No Conflicts	CA386643024	rs_1884864809	2 SubmittersRCV001233803
NM_000431.4(MVK):c.512G>A (p.Gly171Glu)	SNV Germline	Chr12:109581535	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6779272	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 Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter	CA386649314	rs_1885666876	1 SubmittersRCV001348249
NM_000431.4(MVK):c.372-9G>A	SNV Germline	Chr12:109581386	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA607601847	rs_1325994522	2 SubmittersRCV001444482
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	CA6779356	rs_144788669	2 SubmittersRCV001455288 RCV002264332
NM_000431.4(MVK):c.1116C>T (p.Ile372=)	SNV Germline	Chr12:109596502	Conflicting classifications of pathogenicity	Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type MVK-related disorder	Criteria Provided Conflicting Classifications	CA6779456	rs_368066027	4 SubmittersRCV001476430 RCV004733340
NM_000431.4(MVK):c.423G>A (p.Ala141=)	SNV Germline	Chr12:109581446	Conflicting classifications of pathogenicity	Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA6779258	rs_756068705	2 SubmittersRCV001923843
NM_000431.4(MVK):c.886-15A>T	SNV Germline	Chr12:109595013	Conflicting classifications of pathogenicity	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Conflicting Classifications	CA6779412	rs_367853629	2 SubmittersRCV001963735
NM_000431.4(MVK):c.721C>T (p.Arg241Cys)	SNV Germline	Chr12:109590814	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA243459448	rs_758427037	2 SubmittersRCV001969264
NM_000431.4(MVK):c.483C>T (p.Cys161=)	SNV Germline	Chr12:109581506	Conflicting classifications of pathogenicity	Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria	Criteria Provided Conflicting Classifications	CA243454681	rs_777886684	2 SubmittersRCV001968152
NM_000431.4(MVK):c.210G>T (p.Leu70=)	SNV Germline	Chr12:109576129	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Conflicting Classifications	CA243452403	rs_199811011	2 SubmittersRCV002262073 RCV003774820
NM_000431.4(MVK):c.999C>T (p.Gly333=)	SNV Germline	Chr12:109595141	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Mevalonic aciduria Hyperimmunoglobulin D with periodic fever Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Conflicting Classifications	CA6779427	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	CA607288826	rs_1198834556	1 SubmittersRCV002509768
NM_000431.4(MVK):c.893T>C (p.Ile298Thr)	SNV Germline	Chr12:109595035	Likely pathogenic	Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Mevalonic aciduria	Criteria Provided Single Submitter	CA6779413	rs_775702104	1 SubmittersRCV003062543
NM_000431.4(MVK):c.677+1G>T	SNV Germline	Chr12:109586800	Likely pathogenic	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type	Criteria Provided Single Submitter	CA386648374	rs_2548631951	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	CA386648120	rs_2548631795	1 SubmittersRCV002872701
NM_000431.4(MVK):c.671T>G (p.Leu224Ter)	SNV Germline	Chr12:109586793	Pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter	CA386648342	rs_2548631938	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	CA386646437	rs_104895300	1 SubmittersRCV003008474
NM_000431.4(MVK):c.1039+1G>C	SNV Germline	Chr12:109595182	Likely pathogenic	Condition: not provided Porokeratosis 3, disseminated superficial actinic type Mevalonic aciduria Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts	CA386651084	rs_104895362	2 SubmittersRCV003143447 RCV005011248
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	CA6779216	rs_756557144	2 SubmittersRCV003391990 RCV003778388
NM_000431.4(MVK):c.126A>G (p.Gln42=)	SNV Germline	Chr12:109576045	Conflicting classifications of pathogenicity	Retinal dystrophy Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA6779155	rs_200320496	2 SubmittersRCV003889337 RCV003795981
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	CA386642510	rs_1241492890	1 SubmittersRCV003783599
NM_000431.4(MVK):c.227-20C>A	SNV Germline	Chr12:109579782	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Conflicting Classifications	CA2062463764	rs_1885129547	2 SubmittersRCV003791944
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	CA386650765	rs_104895308	1 SubmittersRCV003804127
NM_000431.4(MVK):c.690C>G (p.Leu230=)	SNV Germline	Chr12:109590783	Conflicting classifications of pathogenicity	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6779347	rs_753993972	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	CA386649036	rs_1191193699	1 SubmittersRCV003801959
NM_000431.4(MVK):c.1072C>T (p.Gln358Ter)	SNV Germline	Chr12:109596458	Pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter	CA386651277	rs_2548642823	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	CA386647881	rs_2548630750	1 SubmittersRCV003815273
NM_000431.4(MVK):c.78+1G>T	SNV Germline	Chr12:109574901	Likely pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV005006787
NM_000431.4(MVK):c.665C>A (p.Ser222Ter)	SNV Germline	Chr12:109586787	Likely pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV005006796
NM_000431.4(MVK):c.677+1G>A	SNV Germline	Chr12:109586800	Likely pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005004809
NM_000431.4(MVK):c.768+1G>T	SNV Germline	Chr12:109590862	Likely pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV005213871
NM_000431.4(MVK):c.3G>A (p.Met1Ile)	SNV Germline	Chr12:109574825	Pathogenic	Mevalonic aciduria Porokeratosis 3, disseminated superficial actinic type Hyperimmunoglobulin D with periodic fever	Criteria Provided Single Submitter			1 SubmittersRCV005221261
NM_000431.4(MVK):c.22G>A (p.Val8Met)	SNV Germline	Chr12:109574844	Likely pathogenic	Mevalonic aciduria	Criteria Provided Single Submitter			1 SubmittersRCV005409145

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

Criteria Provided
Multiple Submitters
No Conflicts

CA121776

rs_28934897

46 SubmittersRCV000012705 RCV000191108 RCV000221789 RCV000627780 RCV000791161 RCV000999977 RCV001270083 RCV002262563 RCV002512987 RCV004783724 RCV004814886

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

SNV
Germline

Chr12:109595142

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA121778

rs_104895317

8 SubmittersRCV000012706 RCV000074422 RCV000688831 RCV003114187 RCV004795398 RCV004814887

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

SNV
Germline

Chr12:109574881

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA121780

rs_104895295

8 SubmittersRCV000012708 RCV000012707 RCV001093432 RCV001240497

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

SNV
Germline

Chr12:109591275

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA121782

rs_104895304

21 SubmittersRCV000012710 RCV000012709 RCV000218157 RCV000698175 RCV000505909 RCV002512988 RCV002255091 RCV000191109 RCV004814888 RCV002262564

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

SNV
Germline

Chr12:109581517

Likely pathogenic

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

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

6 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

7 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
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Multiple Submitters
No Conflicts

CA130490

rs_104895301

8 SubmittersRCV000032938 RCV000032939 RCV000032940 RCV001090935 RCV002496494

NM_000431.4(MVK):c.1006G>A (p.Gly336Ser)

SNV
Germline

Chr12:109595148

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

CA149767

rs_104895358

5 SubmittersRCV000083813 RCV004689451 RCV005003459

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

SNV
Germline

Chr12:109596453

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA149774

rs_104895342

9 SubmittersRCV000083816 RCV001588913 RCV000688571 RCV004815019 RCV002514463

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

SNV
Germline

Chr12:109596525

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA149786

rs_104895324

8 SubmittersRCV000083821 RCV000690628 RCV000757501 RCV004593988 RCV004528781

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

SNV
Germline

Chr12:109596542

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA149792

rs_104895380

9 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
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
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
Multiple Submitters
No Conflicts

CA149801

rs_104895306

6 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
Autoinflammatory syndrome
Mevalonic aciduria
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
MVK-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA149807

rs_76914224

13 SubmittersRCV000083830 RCV000726403 RCV002262660 RCV001087442 RCV001114047 RCV004529878 RCV005237528

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
MVK-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA149812

rs_104895382

8 SubmittersRCV000083833 RCV000220019 RCV000645101 RCV002251975 RCV005229891

NM_000431.4(MVK):c.37A>T (p.Lys13Ter)

SNV
Germline

Chr12:109574859

Pathogenic

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

Criteria Provided
Single Submitter

CA149822

rs_104895307

2 SubmittersRCV000083837 RCV005003460

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

4 SubmittersRCV000083843 RCV002514465

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

SNV
Germline

Chr12:109581465

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA149834

rs_104895298

6 SubmittersRCV000083844 RCV000214102 RCV004815020 RCV001854464

NM_000431.4(MVK):c.447C>G (p.Tyr149Ter)

SNV
Germline

Chr12:109581470

Pathogenic

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

Criteria Provided
Single Submitter

CA149836

rs_104895299

2 SubmittersRCV000083845 RCV005222743

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

SNV
Germline

Chr12:109586058

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

CA149845

rs_104895311

8 SubmittersRCV000083849 RCV001381668 RCV000725893 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
Porokeratosis 3, disseminated superficial actinic type
Hyperimmunoglobulin D with periodic fever
Mevalonic aciduria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA149849

rs_104895329

8 SubmittersRCV000083851 RCV000645100 RCV000396517 RCV000828083

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

5 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

4 SubmittersRCV000083854 RCV001509433 RCV003764776

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

SNV
Germline

Chr12:109586107

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA149858

rs_104895364

8 SubmittersRCV000083855 RCV001594835 RCV001857407 RCV002262662 RCV004767066

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

SNV
Germline

Chr12:109586766

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA149870

rs_104895303

3 SubmittersRCV000083860 RCV001383593 RCV004786362

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

SNV
Germline

Chr12:109590802

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA149879

rs_104895366

7 SubmittersRCV000083864 RCV000480950 RCV004593989 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
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type

Criteria Provided
Multiple Submitters
No Conflicts

CA149899

rs_104895315

3 SubmittersRCV000083877 RCV004700401 RCV001381670

NM_000431.4(MVK):c.815C>T (p.Ser272Phe)

SNV
Germline

Chr12:109591287

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA149906

rs_104895318

4 SubmittersRCV000083881 RCV004566976 RCV002262664 RCV005222744

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

4 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.925G>A (p.Gly309Ser)

SNV
Germline

Chr12:109595067

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
Single Submitter

CA149928

rs_104895305

4 SubmittersRCV000083889 RCV005003461 RCV001701744

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

SNV
Germline

Chr12:109595118

Pathogenic/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

CA149933

rs_104895308

4 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
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA292256

rs_138342076

10 SubmittersRCV000126897 RCV000726083 RCV001089231 RCV001110797 RCV001112785 RCV002262732

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

SNV
Germline

Chr12:109595066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA208417

rs_72648042

14 SubmittersRCV000194317 RCV001085707 RCV000724566 RCV001110867 RCV001110868 RCV002262765 RCV004816257

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

SNV
Germline

Chr12:109576149

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

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

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

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

Criteria Provided
Conflicting Classifications

CA6779399

rs_370301290

8 SubmittersRCV000237041 RCV001110866 RCV002262858 RCV000933984 RCV001110101 RCV001528660

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

Criteria Provided
Conflicting Classifications

CA6779142

rs_766391278

2 SubmittersRCV000316506 RCV000373574 RCV002056260

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

SNV
Germline

Chr12:109595046

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10636429

rs_886048933

2 SubmittersRCV000489947 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
not specified

Criteria Provided
Conflicting Classifications

CA6779230

rs_201201471

5 SubmittersRCV000274865 RCV000367061 RCV001612973 RCV002056261 RCV005407036

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

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

Criteria Provided
Conflicting Classifications

CA6779280

rs_199670546

2 SubmittersRCV000290313 RCV000347435 RCV002520784

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

CA386651519

rs_1555279757

2 SubmittersRCV000657855 RCV001297383

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

SNV
Germline

Chr12:109586039

Pathogenic

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

Criteria Provided
Single Submitter

CA386647464

rs_1566147222

2 SubmittersRCV000695407 RCV004544947

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

SNV
Germline

Chr12:109586108

Likely pathogenic

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

Criteria Provided
Single Submitter

CA6779308

rs_767853272

2 SubmittersRCV000723117 RCV002535041

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

SNV
Germline

Chr12:109574880

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA243452160

rs_11544299

2 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

CA6779431

rs_370291700

2 SubmittersRCV000941045 RCV002264109

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

SNV
Germline

Chr12:109581560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779279

rs_368909134

3 SubmittersRCV000974783 RCV001112788 RCV001114133 RCV003736946

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

SNV
Germline

Chr12:109595087

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779423

rs_752469036

3 SubmittersRCV001370355 RCV001000904 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
Hyperimmunoglobulin D with periodic fever
Porokeratosis 3, disseminated superficial actinic type
Mevalonic aciduria

Criteria Provided
Conflicting Classifications

CA6779248

rs_775474803

5 SubmittersRCV001002699 RCV003442138 RCV003890156 RCV005004477

NM_000431.4(MVK):c.298G>A (p.Asp100Asn)

SNV
Germline

Chr12:109579873

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

CA6779212

rs_751713601

4 SubmittersRCV001070922 RCV001090934 RCV002264178

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

SNV
Germline

Chr12:109595129

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA386650817

rs_104895326

2 SubmittersRCV001052205 RCV004702606

NM_000431.4(MVK):c.927C>T (p.Gly309=)

SNV
Germline

Chr12:109595069

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779418

rs_762580578

3 SubmittersRCV001090936 RCV001862684

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

SNV
Germline

Chr12:109574855

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779130

rs_779289416

4 SubmittersRCV001112693 RCV001112692 RCV003769133 RCV003890254

NM_000431.4(MVK):c.178C>T (p.Arg60Trp)

SNV
Germline

Chr12:109576097

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6779162

rs_202167435

4 SubmittersRCV001114043 RCV001114044 RCV001811663 RCV001856503 RCV005443238

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

SNV
Germline

Chr12:109579833

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779208

rs_139299227

3 SubmittersRCV001110009 RCV001114048 RCV001520566 RCV003890253

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

SNV
Germline

Chr12:109575996

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386643173

rs_1884932883

2 SubmittersRCV001213473 RCV003142150

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

SNV
Germline

Chr12:109596512

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA243462647

rs_971159663

2 SubmittersRCV001227276 RCV004794511

NM_000431.4(MVK):c.681G>A (p.Ser227=)

SNV
Germline

Chr12:109590774

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779346

rs_764412001

2 SubmittersRCV001247038

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

SNV
Germline

Chr12:109574901

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386643024

rs_1884864809

2 SubmittersRCV001233803

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

SNV
Germline

Chr12:109581535

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779272

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
Mevalonic aciduria
Hyperimmunoglobulin D with periodic fever

Criteria Provided
Single Submitter

CA386649314

rs_1885666876

1 SubmittersRCV001348249

NM_000431.4(MVK):c.372-9G>A

SNV
Germline

Chr12:109581386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA607601847

rs_1325994522

2 SubmittersRCV001444482

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

CA6779356

rs_144788669

2 SubmittersRCV001455288 RCV002264332

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

SNV
Germline

Chr12:109596502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779456

rs_368066027

4 SubmittersRCV001476430 RCV004733340

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

SNV
Germline

Chr12:109581446

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779258

rs_756068705

2 SubmittersRCV001923843

NM_000431.4(MVK):c.886-15A>T

SNV
Germline

Chr12:109595013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779412

rs_367853629

2 SubmittersRCV001963735

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

SNV
Germline

Chr12:109590814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA243459448

rs_758427037

2 SubmittersRCV001969264

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

SNV
Germline

Chr12:109581506

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA243454681

rs_777886684

2 SubmittersRCV001968152

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

SNV
Germline

Chr12:109576129

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA243452403

rs_199811011

2 SubmittersRCV002262073 RCV003774820

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

SNV
Germline

Chr12:109595141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779427

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

CA607288826

rs_1198834556

1 SubmittersRCV002509768

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

SNV
Germline

Chr12:109595035

Likely pathogenic

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

Criteria Provided
Single Submitter

CA6779413

rs_775702104

1 SubmittersRCV003062543

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

SNV
Germline

Chr12:109586800

Likely pathogenic

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

Criteria Provided
Single Submitter

CA386648374

rs_2548631951

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

CA386648120

rs_2548631795

1 SubmittersRCV002872701

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

SNV
Germline

Chr12:109586793

Pathogenic

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

Criteria Provided
Single Submitter

CA386648342

rs_2548631938

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

CA386646437

rs_104895300

1 SubmittersRCV003008474

NM_000431.4(MVK):c.1039+1G>C

SNV
Germline

Chr12:109595182

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA386651084

rs_104895362

2 SubmittersRCV003143447 RCV005011248

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

CA6779216

rs_756557144

2 SubmittersRCV003391990 RCV003778388

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

SNV
Germline

Chr12:109576045

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779155

rs_200320496

2 SubmittersRCV003889337 RCV003795981

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

CA386642510

rs_1241492890

1 SubmittersRCV003783599

NM_000431.4(MVK):c.227-20C>A

SNV
Germline

Chr12:109579782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2062463764

rs_1885129547

2 SubmittersRCV003791944

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

CA386650765

rs_104895308

1 SubmittersRCV003804127

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

SNV
Germline

Chr12:109590783

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6779347

rs_753993972

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

CA386649036

rs_1191193699

1 SubmittersRCV003801959

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

SNV
Germline

Chr12:109596458

Pathogenic

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

Criteria Provided
Single Submitter

CA386651277

rs_2548642823

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

CA386647881

rs_2548630750

1 SubmittersRCV003815273

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

SNV
Germline

Chr12:109574901

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005006787

NM_000431.4(MVK):c.665C>A (p.Ser222Ter)

SNV
Germline

Chr12:109586787

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005006796

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

SNV
Germline

Chr12:109586800

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005004809

NM_000431.4(MVK):c.768+1G>T

SNV
Germline

Chr12:109590862

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005213871

NM_000431.4(MVK):c.3G>A (p.Met1Ile)

SNV
Germline

Chr12:109574825

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005221261

NM_000431.4(MVK):c.22G>A (p.Val8Met)

SNV
Germline

Chr12:109574844

Likely pathogenic

Mevalonic aciduria

Criteria Provided
Single Submitter

1 SubmittersRCV005409145