Total 40 pathogenic variants reported for SIN3A-related intellectual disability syndrome due to a point mutation

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter)	SNV Germline	Chr15:75380702	Pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	No Assertion Criteria Provided	CA10586184	rs_879255621	1 SubmittersRCV000239512
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His)	SNV Unknown	Chr15:75396345	Likely pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter		rs_1595897117	1 SubmittersRCV000989361
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)	SNV Unknown	Chr15:75411634	Likely pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter		rs_1347764887	1 SubmittersRCV001196526
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe)	SNV Unknown	Chr15:75396346	Likely pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter		rs_2073302769	1 SubmittersRCV001332922
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln)	SNV Germline	Chr15:75392310	Conflicting classifications of pathogenicity	Condition: not provided SIN3A-related intellectual disability syndrome due to a point mutation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_367989965	3 SubmittersRCV001339106 RCV003136000 RCV004960812
NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter)	SNV Germline	Chr15:75410280	Pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter		rs_2141487525	1 SubmittersRCV001375977
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)	SNV Germline	Chr15:75392290	Pathogenic/Likely pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Multiple Submitters No Conflicts		rs_2141424841	2 SubmittersRCV001783749
NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter)	SNV Germline	Chr15:75394805	Pathogenic	Condition: not provided SIN3A-related disorder SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Multiple Submitters No Conflicts		rs_1444395453	3 SubmittersRCV001806995 RCV004731182 RCV003493875
NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter)	SNV Germline	Chr15:75422664	Pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter		rs_2141540759	1 SubmittersRCV002274471
NM_001145358.2(SIN3A):c.366+5T>C	SNV Germline	Chr15:75422642	Likely pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter			1 SubmittersRCV002466369
NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)	SNV Germline	Chr15:75401967	Pathogenic	SIN3A-related intellectual disability syndrome Condition: not provided SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV002471962 RCV002571474 RCV004565611
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)	SNV Germline	Chr15:75372148	Conflicting classifications of pathogenicity	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Conflicting Classifications			2 SubmittersRCV003136700
NM_001145358.2(SIN3A):c.2506G>T (p.Glu836Ter)	SNV Unknown	Chr15:75392587	Pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter			1 SubmittersRCV003147954
NM_001145358.2(SIN3A):c.3025C>T (p.Gln1009Ter)	SNV Germline	Chr15:75384434	Pathogenic	Condition: not provided SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter			2 SubmittersRCV003222831 RCV003341552
NM_001145358.2(SIN3A):c.474-1G>A	SNV Unknown	Chr15:75413046	Likely pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter			1 SubmittersRCV003314312
NM_001145358.2(SIN3A):c.1526+1G>T	SNV Germline	Chr15:75401851	Likely pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter			1 SubmittersRCV003883310
NM_001145358.2(SIN3A):c.1810C>T (p.Gln604Ter)	SNV Germline	Chr15:75400084	Pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter			1 SubmittersRCV004545920
NM_001145358.2(SIN3A):c.1511T>A (p.Val504Asp)	SNV Unknown	Chr15:75401867	Likely pathogenic	SIN3A-related intellectual disability syndrome due to a point mutation	Criteria Provided Single Submitter			1 SubmittersRCV004666672