Total 26 pathogenic variants reported for Multiple sclerosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) SNV
Germline		 Chr12:6333823 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided
Multiple sclerosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280147 rs_104895219

8 SubmittersRCV000013129RCV000414218RCV004798724
NM_031157.4(HNRNPA1):c.943T>C (p.Phe315Leu) SNV
Somatic		 Chr12:54283847 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163035 rs_483353022

1 SubmittersRCV000122441
NM_031157.4(HNRNPA1):c.949A>G (p.Asn317Asp) SNV
Somatic		 Chr12:54283853 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163038 rs_483353023

1 SubmittersRCV000122442
NM_031157.4(HNRNPA1):c.973T>C (p.Phe325Leu) SNV
Somatic		 Chr12:54283877 Pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163041 rs_483353028

1 SubmittersRCV000122443
NM_031157.4(HNRNPA1):c.973T>G (p.Phe325Val) SNV
Somatic		 Chr12:54283877 Pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163044 rs_483353028

1 SubmittersRCV000122444
NM_031157.4(HNRNPA1):c.979C>T (p.Pro327Ser) SNV
Somatic		 Chr12:54283883 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163047 rs_483353029

1 SubmittersRCV000122445
NM_031157.4(HNRNPA1):c.982A>C (p.Met328Leu) SNV
Somatic		 Chr12:54283886 Likely pathogenic Relapsing remitting multiple sclerosis No Assertion Criteria Provided
 CA163050 rs_483353024

1 SubmittersRCV000122446
NM_031157.4(HNRNPA1):c.987G>T (p.Lys329Asn) SNV
Somatic		 Chr12:54283891 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163053 rs_483353030

1 SubmittersRCV000122447
NM_031157.4(HNRNPA1):c.995A>G (p.Asn332Ser) SNV
Somatic		 Chr12:54283899 Likely pathogenic Relapsing remitting multiple sclerosis No Assertion Criteria Provided
 CA163056 rs_3207617

1 SubmittersRCV000122448
NM_031157.4(HNRNPA1):c.997T>C (p.Phe333Leu) SNV
Somatic		 Chr12:54283901 Pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163059 rs_483353031

1 SubmittersRCV000122449
NM_031157.4(HNRNPA1):c.1006A>G (p.Arg336Gly) SNV
Somatic		 Chr12:54283910 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163062 rs_483353032

1 SubmittersRCV000122450
NM_031157.4(HNRNPA1):c.1009A>G (p.Ser337Gly) SNV
Somatic		 Chr12:54283913 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163065 rs_483353033

1 SubmittersRCV000122451
NM_031157.4(HNRNPA1):c.1040A>G (p.Tyr347Cys) SNV
Somatic		 Chr12:54283944 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163068 rs_483353034

1 SubmittersRCV000122452
NM_031157.4(HNRNPA1):c.1042T>C (p.Phe348Leu) SNV
Somatic		 Chr12:54283946 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163071 rs_483353035

1 SubmittersRCV000122453
NM_031157.4(HNRNPA1):c.1052C>T (p.Pro351Leu) SNV
Somatic		 Chr12:54283956 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163074 rs_483353036

1 SubmittersRCV000122454
NM_031157.4(HNRNPA1):c.1057A>G (p.Asn353Asp) SNV
Somatic		 Chr12:54283961 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163080 rs_483353039

1 SubmittersRCV000122456
NM_031157.4(HNRNPA1):c.1058A>G (p.Asn353Ser) SNV
Somatic		 Chr12:54283962 Likely pathogenic Chronic progressive multiple sclerosis No Assertion Criteria Provided
 CA163083 rs_483353038

1 SubmittersRCV000122457
NM_002693.3(POLG):c.391T>C (p.Tyr131His) SNV
Germline		 Chr15:89333364 Conflicting classifications of pathogenicity Primary progressive multiple sclerosis
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder
Intellectual disability
Inborn genetic diseases
not specified
Mitochondrial disease		 Criteria Provided
Conflicting Classifications
 CA316634 rs_562847013

16 SubmittersRCV000578205RCV000469850RCV000726559RCV001116622RCV001252352RCV002321761RCV003993876RCV004786514
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) SNV
Germline		 Chr12:6333477 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
not specified
Condition: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)
Multiple sclerosis, susceptibility to, 5
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA280920 rs_4149584

19 SubmittersRCV000200263RCV000222279RCV000487915RCV001280954RCV002262795
NM_005693.4(NR1H3):c.1244G>A (p.Arg415Gln) SNV
Germline		 Chr11:47268596 Pathogenic Multiple sclerosis No Assertion Criteria Provided
 CA5973720 rs_61731956

1 SubmittersRCV000211445
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) SNV
Germline		 Chr8:132572316 Conflicting classifications of pathogenicity not specified
Condition: not provided
Primary ciliary dyskinesia 19
Multiple sclerosis, susceptibility to
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA4881072 rs_139131485

9 SubmittersRCV000243911RCV000767176RCV001085911RCV001823000RCV002461049
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) SNV
Germline		 Chr8:143916574 Conflicting classifications of pathogenicity not specified
Condition: not provided
6 conditions
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
Multiple sclerosis		 Criteria Provided
Conflicting Classifications
 CA4923869 rs_201855218

9 SubmittersRCV000500644RCV000725640RCV000764746RCV000796522RCV004023395RCV005052811
NM_002124.4(HLA-DRB1):c.764-2A>G SNV
Germline		 Chr6:32580272 Likely pathogenic Multiple sclerosis, susceptibility to Criteria Provided
Single Submitter
 CA3742755 rs_756519999

1 SubmittersRCV003990402
NM_201384.3(PLEC):c.3160C>A (p.Pro1054Thr) SNV
Germline		 Chr8:143929203 Likely pathogenic Multiple sclerosis No Assertion Criteria Provided

1 SubmittersRCV005052918
NM_201384.3(PLEC):c.934G>T (p.Glu312Ter) SNV
Germline		 Chr8:143934821 Likely pathogenic Multiple sclerosis No Assertion Criteria Provided

1 SubmittersRCV005052922