Total 16 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.245T>C (p.Leu82Pro) SNV
Germline		 Chr7:139911233 Conflicting classifications of pathogenicity Condition: not provided
Ghosal hematodiaphyseal dysplasia		 Criteria Provided
Conflicting Classifications
 CA121728 rs_140005285

3 SubmittersRCV000178142RCV004794332
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

14 SubmittersRCV001283757RCV001571663
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val) SNV
Germline		 Chr7:140017826 Conflicting classifications of pathogenicity Condition: not provided
Abnormal bleeding
Thrombocytopenia
Inborn genetic diseases
not specified
Ghosal hematodiaphyseal dysplasia		 Criteria Provided
Conflicting Classifications
 CA4512067 rs_200663004

7 SubmittersRCV000359646RCV001270607RCV002521911RCV005238831RCV005031855
NM_001061.7(TBXAS1):c.856C>T (p.Arg286Ter) SNV
Germline		 Chr7:139961955 Conflicting classifications of pathogenicity Condition: not provided
Ghosal hematodiaphyseal dysplasia		 Criteria Provided
Conflicting Classifications
 CA4511832 rs_766799764

3 SubmittersRCV000599095RCV005407788
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) SNV
Germline		 Chr7:140017723 Conflicting classifications of pathogenicity Thromboxane synthetase deficiency
Ghosal hematodiaphyseal dysplasia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA4512039 rs_149988492

4 SubmittersRCV000768333RCV001855972RCV002249469
NM_001061.7(TBXAS1):c.193G>T (p.Glu65Ter) SNV
Germline		 Chr7:139875594 Pathogenic Ghosal hematodiaphyseal dysplasia Criteria Provided
Multiple Submitters
No Conflicts
 CA369578362 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
 CA4512105 rs_780924927

3 SubmittersRCV001898557RCV003444951RCV003167006
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
 CA4511792 rs_55856189

3 SubmittersRCV002075310RCV002290847RCV003987966
NM_001061.7(TBXAS1):c.859C>T (p.His287Tyr) SNV
Unknown		 Chr7:139961958 Likely pathogenic Ghosal hematodiaphyseal dysplasia No Assertion Criteria Provided
 CA369584039 rs_1203779981

1 SubmittersRCV002264889
NM_001061.7(TBXAS1):c.90-1G>A SNV
Germline		 Chr7:139872234 Likely pathogenic Ghosal hematodiaphyseal dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005240150
NM_001061.7(TBXAS1):c.451-2A>T SNV
Germline		 Chr7:139953366 Likely pathogenic Ghosal hematodiaphyseal dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005411165