Total 37 pathogenic variants reported for Moyamoya disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) SNV
Germline		 Chr10:88939542 Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6
Moyamoya disease 5
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Multiple Submitters
No Conflicts
 CA007026 rs_121434527

5 SubmittersRCV000019939RCV000022435RCV000181027RCV003352750
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) SNV
Germline		 Chr10:88939543 Pathogenic Moyamoya disease 5
Aortic aneurysm, familial thoracic 6
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Multiple Submitters
No Conflicts
 CA007017 rs_121434528

8 SubmittersRCV000022436RCV000019940RCV000523600RCV002310630
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) SNV
Germline		 Chr10:88941309 Pathogenic Multisystemic smooth muscle dysfunction syndrome
Moyamoya disease 5
Aortic aneurysm, familial thoracic 6
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
alterations of great arteries and veins
Connective tissue disorder
Aortic aneurysm, familial thoracic 6
Moyamoya disease 5
Multisystemic smooth muscle dysfunction syndrome
ACTA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA006970 rs_387906592

18 SubmittersRCV000022437RCV000022438RCV000228180RCV000181023RCV000211886RCV000415107RCV000763224RCV004532396
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) SNV
Germline		 Chr17:80385145 Conflicting classifications of pathogenicity Moyamoya disease 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA130463 rs_112735431

12 SubmittersRCV000032902RCV001531872RCV004955260
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) SNV
Germline		 Chr17:80368025 Pathogenic Moyamoya disease 2 Criteria Provided
Single Submitter
 CA130465 rs_397514563

4 SubmittersRCV000032903
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) SNV
Germline		 Chr10:88948816 Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
See cases
Familial aortopathy
ACTA2-related disorder
Aortic aneurysm, familial thoracic 6
Multisystemic smooth muscle dysfunction syndrome
Moyamoya disease 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA006817 rs_112901682

14 SubmittersRCV000055647RCV000143866RCV000490091RCV002274892RCV004700355RCV004734613RCV004795340
NM_001130682.3(GUCY1A1):c.1086+1G>A SNV
Germline		 Chr4:155711252 Pathogenic Moyamoya disease with early-onset achalasia No Assertion Criteria Provided
 CA151371 rs_587777320

1 SubmittersRCV000114952
NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter) SNV
Germline		 Chr4:155711210 Pathogenic Moyamoya disease with early-onset achalasia No Assertion Criteria Provided
 CA151372 rs_587777321

1 SubmittersRCV000114953
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) SNV
Germline		 Chr10:88943813 Pathogenic/Likely pathogenic Condition: not provided
Aortic aneurysm, familial thoracic 6
Familial thoracic aortic aneurysm and aortic dissection
Aortic aneurysm, familial thoracic 6
Moyamoya disease 5
Multisystemic smooth muscle dysfunction syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA006909 rs_112602953

8 SubmittersRCV000181019RCV000234479RCV000608387RCV002485186
NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys) SNV
Germline		 Chr17:80368043 Conflicting classifications of pathogenicity Moyamoya disease 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA205023 rs_139265462

4 SubmittersRCV000191948RCV000879574
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr) SNV
Germline		 Chr17:80383801 Conflicting classifications of pathogenicity Moyamoya disease 2
Condition: not provided
See cases		 Criteria Provided
Conflicting Classifications
 CA205015 rs_148776624

5 SubmittersRCV000191944RCV001514042RCV004584371
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) SNV
Germline		 Chr10:88941252 Pathogenic/Likely pathogenic Condition: not provided
Aortic aneurysm, familial thoracic 6
Aortic aneurysm, familial thoracic 6
Multisystemic smooth muscle dysfunction syndrome
Moyamoya disease 5
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10587711 rs_746972765

6 SubmittersRCV002223833RCV000645627RCV004796132RCV000771179
NM_001613.4(ACTA2):c.369+7A>G SNV
Germline		 Chr10:88943790 Conflicting classifications of pathogenicity Moyamoya disease
Multisystemic smooth muscle dysfunction syndrome
Familial thoracic aortic aneurysm and aortic dissection
Aortic aneurysm, familial thoracic 6		 Criteria Provided
Conflicting Classifications
 CA027861 rs_760471677

2 SubmittersRCV000314858RCV000354097RCV000390773RCV002056149
NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn) SNV
Germline		 Chr17:80368028 Likely pathogenic Moyamoya disease 2
Moyamoya angiopathy		 No Assertion Criteria Provided
 CA401409087 rs_1555675538

2 SubmittersRCV000509672RCV004704019
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) SNV
Germline		 Chr4:155713269 Pathogenic Moyamoya disease with early-onset achalasia
Moyamoya disease 1		 No Assertion Criteria Provided
 rs_373182378

2 SubmittersRCV000677373RCV000755172
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr) SNV
Germline		 Chr4:155713561 Pathogenic Moyamoya disease with early-onset achalasia
Moyamoya disease 1		 No Assertion Criteria Provided
 rs_751701114

2 SubmittersRCV000677374RCV000755174
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter) SNV
Germline		 Chr4:155730112 Pathogenic Moyamoya disease with early-onset achalasia No Assertion Criteria Provided
 rs_1368733883

1 SubmittersRCV000677376
NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu) SNV
Germline		 Chr17:80372536 Likely pathogenic Moyamoya disease 2 Criteria Provided
Single Submitter
 rs_1568149971

1 SubmittersRCV000754708
NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter) SNV
Germline		 Chr17:80317251 Conflicting classifications of pathogenicity Moyamoya disease 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_546643996

2 SubmittersRCV000855444RCV000926630
NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe) SNV
Germline		 Chr17:80368047 Likely pathogenic Moyamoya disease 2 Criteria Provided
Single Submitter
 rs_1599150380

1 SubmittersRCV000789042
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) SNV
Germline		 Chr17:80343311 Conflicting classifications of pathogenicity Atypical coarctation of aorta
Moyamoya disease 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_768740459

3 SubmittersRCV000845199RCV002249538RCV003727830
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe) SNV
Germline		 Chr17:80369795 Pathogenic Moyamoya disease 2 Criteria Provided
Single Submitter
 rs_2079443410

1 SubmittersRCV001089981
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=) SNV
Germline		 Chr4:155710795 Conflicting classifications of pathogenicity Moyamoya disease with early-onset achalasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_138687424

2 SubmittersRCV001334592RCV002070187
NM_001130682.3(GUCY1A1):c.1086+1G>T SNV
Germline		 Chr4:155711252 Pathogenic Moyamoya disease with early-onset achalasia Criteria Provided
Single Submitter
 rs_587777320

1 SubmittersRCV001783406
NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys) SNV
Germline		 Chr17:80369833 Pathogenic Moyamoya disease 2 Criteria Provided
Single Submitter
 rs_556513891

1 SubmittersRCV002250295
NM_001256071.3(RNF213):c.14822T>A (p.Val4941Glu) SNV
Germline		 Chr17:80386791 Likely pathogenic Moyamoya disease 2 No Assertion Criteria Provided

1 SubmittersRCV002291170
NM_001256071.3(RNF213):c.12050G>A (p.Cys4017Tyr) SNV
Germline		 Chr17:80368038 Likely pathogenic Moyamoya disease 2 Criteria Provided
Single Submitter

1 SubmittersRCV003128519
NM_001256071.3(RNF213):c.1699A>G (p.Met567Val) SNV
Germline		 Chr17:80294947 Conflicting classifications of pathogenicity Moyamoya disease 2
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003224914RCV003491347
NM_018043.7(ANO1):c.1972A>G (p.Met658Val) SNV
Germline		 Chr11:70165491 Pathogenic Moyamoya disease 7 No Assertion Criteria Provided

1 SubmittersRCV003493375
NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile) SNV
Germline		 Chr11:70170908 Pathogenic Moyamoya disease 7 No Assertion Criteria Provided

1 SubmittersRCV003493376
NM_001256071.3(RNF213):c.13641-2A>G SNV
Germline		 Chr17:80380829 Likely pathogenic Moyamoya disease 2 Criteria Provided
Single Submitter

1 SubmittersRCV003990207