Total 25 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 Neoplasm Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121147	rs_137852216	6 SubmittersRCV000011453 RCV004668713 RCV002266900
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 SubmittersRCV000011454 RCV000624757 RCV000303504 RCV003398482
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 SubmittersRCV000120005 RCV000990847 RCV000894626
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		rs_1602068260	2 SubmittersRCV000787948
NM_152424.4(AMER1):c.2029T>C (p.Ser677Pro)	SNV Germline	ChrX:64191258	Conflicting classifications of pathogenicity	Condition: not provided Osteopathia striata with cranial sclerosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201053898	3 SubmittersRCV000937066 RCV003141898 RCV002544518
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		rs_1930251154	5 SubmittersRCV001069565 RCV001775155
NM_152424.4(AMER1):c.1000G>T (p.Glu334Ter)	SNV Germline	ChrX:64192287	Pathogenic	Osteopathia striata with cranial sclerosis	Criteria Provided Single Submitter		rs_2147089265	1 SubmittersRCV001783478
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		rs_369116388	3 SubmittersRCV002254369 RCV003094169 RCV004982953
NM_152424.4(AMER1):c.871G>T (p.Glu291Ter)	SNV Germline	ChrX:64192416	Likely pathogenic	Osteopathia striata with cranial sclerosis	Criteria Provided Single Submitter			1 SubmittersRCV004566429