Total 8 pathogenic variants reported for Ateleiotic dwarfism

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000515.5(GH1):c.59G>A (p.Trp20Ter)	SNV Germline	Chr17:63918458	Pathogenic	Ateleiotic dwarfism	Criteria Provided Single Submitter	CA126111	rs_137853219	2 SubmittersRCV000017333
NM_000515.5(GH1):c.291+1G>A	SNV Germline	Chr17:63918016	Pathogenic	Autosomal dominant isolated somatotropin deficiency Short stature due to growth hormone qualitative anomaly Ateleiotic dwarfism Autosomal dominant isolated somatotropin deficiency Isolated growth hormone deficiency type IB Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA212963	rs_71640277	8 SubmittersRCV000017340 RCV002504799 RCV001557907 RCV004629142
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)	SNV Germline	Chr5:83105046	Pathogenic/Likely pathogenic	Ateleiotic dwarfism Short stature, microcephaly, and endocrine dysfunction Condition: not provided XRCC4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA151434	rs_587779351	6 SubmittersRCV000115044 RCV000190521 RCV000343573 RCV004748579