Total 23 pathogenic variants reported for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)	SNV Germline	Chr3:52149850	Pathogenic	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Condition: not provided Ateleiotic dwarfism	Criteria Provided Multiple Submitters No Conflicts	CA130053	rs_397514487	9 SubmittersRCV000030716 RCV001564537 RCV001838528
NM_015426.5(POC1A):c.512T>C (p.Leu171Pro)	SNV Germline	Chr3:52147039	Pathogenic	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	No Assertion Criteria Provided	CA130057	rs_397514488	1 SubmittersRCV000030717
NM_015426.5(POC1A):c.784C>T (p.Arg262Trp)	SNV Germline	Chr3:52138198	Conflicting classifications of pathogenicity	not specified Condition: not provided Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208421	rs_146976547	8 SubmittersRCV000194320 RCV000514178 RCV001330671 RCV002517119
NM_015426.5(POC1A):c.64G>T (p.Val22Phe)	SNV Germline	Chr3:52151055	Likely pathogenic	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Criteria Provided Single Submitter	CA353052281	rs_918352190	1 SubmittersRCV000761518
NM_015426.5(POC1A):c.253G>C (p.Val85Leu)	SNV Germline	Chr3:52149838	Conflicting classifications of pathogenicity	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2429699	rs_112213336	4 SubmittersRCV000824869 RCV001869260 RCV004702466
NM_015426.5(POC1A):c.82A>G (p.Ser28Gly)	SNV Germline	Chr3:52151037	Conflicting classifications of pathogenicity	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2429739	rs_141061033	3 SubmittersRCV001330672 RCV002070165 RCV002546406
NM_015426.5(POC1A):c.981+1G>A	SNV Germline	Chr3:52122378	Pathogenic	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	No Assertion Criteria Provided	CA353055300	rs_780164701	1 SubmittersRCV001553770
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp)	SNV Germline	Chr3:52145876	Pathogenic/Likely pathogenic	Condition: not provided Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2429551	rs_372247136	8 SubmittersRCV001596903 RCV003147640
NM_015426.5(POC1A):c.472C>T (p.Arg158Trp)	SNV Germline	Chr3:52147079	Conflicting classifications of pathogenicity	Condition: not provided Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2429612	rs_370528660	3 SubmittersRCV002014325 RCV004720356 RCV004046699
NM_015426.5(POC1A):c.1A>G (p.Met1Val)	SNV Germline	Chr3:52154372	Pathogenic/Likely pathogenic	Condition: not provided Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA353052840	rs_747094191	2 SubmittersRCV001942219 RCV005025522
NM_015426.5(POC1A):c.893G>A (p.Trp298Ter)	SNV Germline	Chr3:52122467	Likely pathogenic	See cases POC1A-related disorder Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA353056326	rs_2107090748	3 SubmittersRCV002252548 RCV003403757 RCV005025741
NM_015426.5(POC1A):c.729C>G (p.Tyr243Ter)	SNV Germline	Chr3:52138253	Pathogenic/Likely pathogenic	Condition: not provided Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA353042381	rs_1203995886	2 SubmittersRCV003547708 RCV005030078
NM_015426.5(POC1A):c.55C>T (p.Arg19Ter)	SNV Germline	Chr3:52151064	Likely pathogenic	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Criteria Provided Single Submitter		rs_778252554	1 SubmittersRCV004585161
NM_015426.5(POC1A):c.104-2A>C	SNV Germline	Chr3:52149989	Likely pathogenic	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004720668
NM_015426.5(POC1A):c.719C>T (p.Ser240Leu)	SNV Germline	Chr3:52138263	Pathogenic	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006252583