Total 28 pathogenic variants reported for Osteopathia striata with cranial sclerosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter) SNV
Germline/somatic
ChrX:64192230 Pathogenic Osteopathia striata with cranial sclerosis
Condition: not provided
Neoplasm
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA121147 rs_137852216

7 SubmittersRCV000011453RCV002266900RCV004668713RCV005348057

NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter) SNV
Germline
ChrX:64192215 Pathogenic Osteopathia striata with cranial sclerosis
Inborn genetic diseases
Condition: not provided
AMER1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA121149 rs_137852217

5 SubmittersRCV000011454RCV000624757RCV000303504RCV003398482

NM_152424.4(AMER1):c.429T>A (p.Cys143Ter) SNV
Germline
ChrX:64192858 Pathogenic Osteopathia striata with cranial sclerosis No Assertion Criteria Provided
CA128810 rs_387906722

1 SubmittersRCV000022871

NM_152424.4(AMER1):c.811C>T (p.Gln271Ter) SNV
Germline
ChrX:64192476 Pathogenic Osteopathia striata with cranial sclerosis No Assertion Criteria Provided
CA130039 rs_387907269

1 SubmittersRCV000030706

NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) SNV
Germline
ChrX:64193202 Conflicting classifications of pathogenicity not specified
Osteopathia striata with cranial sclerosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA156704 rs_138399473

5 SubmittersRCV000120005RCV000990847RCV000894626

NM_152424.4(AMER1):c.565C>T (p.Gln189Ter) SNV
Germline
ChrX:64192722 Pathogenic Osteopathia striata with cranial sclerosis Criteria Provided
Multiple Submitters
No Conflicts
CA413310552 rs_1602068260

2 SubmittersRCV000787948

NM_152424.4(AMER1):c.2029T>C (p.Ser677Pro) SNV
Germline
ChrX:64191258 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Osteopathia striata with cranial sclerosis
Criteria Provided
Conflicting Classifications
CA10432247 rs_201053898

3 SubmittersRCV000937066RCV002544518RCV003141898

NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter) SNV
Germline
ChrX:64191798 Pathogenic/Likely pathogenic Condition: not provided
Osteopathia striata with cranial sclerosis
Criteria Provided
Multiple Submitters
No Conflicts
CA413307632 rs_1930251154

5 SubmittersRCV001069565RCV001775155

NM_152424.4(AMER1):c.1000G>T (p.Glu334Ter) SNV
Germline
ChrX:64192287 Pathogenic Osteopathia striata with cranial sclerosis Criteria Provided
Single Submitter
CA413308721 rs_2147089265

1 SubmittersRCV001783478

NM_152424.4(AMER1):c.2884G>A (p.Ala962Thr) SNV
Germline
ChrX:64190403 Conflicting classifications of pathogenicity Condition: not provided
Osteopathia striata with cranial sclerosis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10432139 rs_777905301

3 SubmittersRCV001995423RCV003985536RCV005590254

NM_152424.4(AMER1):c.3130A>G (p.Met1044Val) SNV
Germline
ChrX:64190157 Conflicting classifications of pathogenicity Osteopathia striata with cranial sclerosis
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10432100 rs_369116388

3 SubmittersRCV002254369RCV003094169RCV004982953

NM_152424.4(AMER1):c.1900C>T (p.Arg634Cys) SNV
Germline
ChrX:64191387 Conflicting classifications of pathogenicity Condition: not provided
Osteopathia striata with cranial sclerosis
Criteria Provided
Conflicting Classifications
CA329956090 rs_866313799

2 SubmittersRCV003847660RCV005208219

NM_152424.4(AMER1):c.871G>T (p.Glu291Ter) SNV
Germline
ChrX:64192416 Likely pathogenic Osteopathia striata with cranial sclerosis Criteria Provided
Single Submitter
rs_774922675

1 SubmittersRCV004566429

NM_152424.4(AMER1):c.1756C>T (p.Arg586Ter) SNV
Germline
ChrX:64191531 Likely pathogenic Osteopathia striata with cranial sclerosis Criteria Provided
Single Submitter

1 SubmittersRCV005253457