Total 11 pathogenic variants reported for Ghosal hematodiaphyseal dysplasia

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001061.7(TBXAS1):c.1460T>C (p.Leu487Pro)	SNV Germline	Chr7:140017766	Pathogenic	Ghosal hematodiaphyseal dysplasia	No Assertion Criteria Provided	CA121723	rs_199422114	1 SubmittersRCV004794331
NM_001061.7(TBXAS1):c.1441G>T (p.Gly481Trp)	SNV Germline	Chr7:140017747	Pathogenic	Ghosal hematodiaphyseal dysplasia	No Assertion Criteria Provided	CA121734	rs_199422116	1 SubmittersRCV004794333
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)	SNV Germline	Chr7:140015731	Conflicting classifications of pathogenicity	Ghosal hematodiaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA121739	rs_199422117	12 SubmittersRCV001283757 RCV001571663
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp)	SNV Germline	Chr7:140017723	Conflicting classifications of pathogenicity	Ghosal hematodiaphyseal dysplasia Thromboxane synthetase deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_149988492	4 SubmittersRCV000768333 RCV002249469 RCV001855972
NM_001061.7(TBXAS1):c.193G>T (p.Glu65Ter)	SNV Germline	Chr7:139875594	Pathogenic	Ghosal hematodiaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts		rs_775012519	2 SubmittersRCV001332733
NM_001061.7(TBXAS1):c.1580A>G (p.Tyr527Cys)	SNV Germline	Chr7:140020077	Conflicting classifications of pathogenicity	Condition: not provided Ghosal hematodiaphyseal dysplasia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_780924927	3 SubmittersRCV001898557 RCV003444951 RCV003167006
NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser)	SNV Germline	Chr7:139957679	Conflicting classifications of pathogenicity	Condition: not provided Ghosal hematodiaphyseal dysplasia not specified	Criteria Provided Conflicting Classifications		rs_55856189	3 SubmittersRCV002075310 RCV002290847 RCV003987966
NM_001061.7(TBXAS1):c.859C>T (p.His287Tyr)	SNV Unknown	Chr7:139961958	Likely pathogenic	Ghosal hematodiaphyseal dysplasia	No Assertion Criteria Provided		rs_1203779981	1 SubmittersRCV002264889