Total 2 pathogenic variants reported for Trigonocephaly-short stature-developmental delay syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_031407.7(HUWE1):c.145-2A>G	SNV Germline	ChrX:53647576	Likely pathogenic	Trigonocephaly-short stature-developmental delay syndrome Intellectual disability, X-linked syndromic, Turner type	Criteria Provided Single Submitter	CA413166812	rs_1569509136	2 SubmittersRCV000757996 RCV000770794
NM_031407.7(HUWE1):c.8495C>T (p.Thr2832Ile)	SNV Germline	ChrX:53552893	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability, X-linked syndromic, Turner type Trigonocephaly-short stature-developmental delay syndrome	Criteria Provided Conflicting Classifications	CA413146946	rs_2523433917	2 SubmittersRCV002991626 RCV004731309