Total 52 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
 CA393495271 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
 CA393447885 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
 CA393495275 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
 CA7667408 rs_367989965

3 SubmittersRCV001339106RCV003136000RCV004960812
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
 CA393446676 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
 CA393490408 rs_2141424841

2 SubmittersRCV001783749
NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter) SNV
Germline		 Chr15:75394805 Pathogenic/Likely pathogenic Condition: not provided
SIN3A-related intellectual disability syndrome due to a point mutation
SIN3A-related disorder
Intellectual disability
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA393494606 rs_1444395453

5 SubmittersRCV001806995RCV003493875RCV004731182RCV005626493RCV005922606
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
 CA393458358 rs_2141540759

1 SubmittersRCV002274471
NM_001145358.2(SIN3A):c.1009-9A>G SNV
Germline		 Chr15:75410295 Conflicting classifications of pathogenicity Condition: not provided
SIN3A-related intellectual disability syndrome due to a point mutation
Uterine corpus endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA2580089989 rs_759972441

6 SubmittersRCV002288202RCV005628343RCV005931686
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
 CA393458209 rs_2542751349

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
 CA393499320 rs_971198723

4 SubmittersRCV002471962RCV002571474RCV004565611
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
 CA393483425 rs_2542982542

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
 CA393491350 rs_2543076155

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
 CA393488143 rs_2543035478

2 SubmittersRCV003222831RCV003341552
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
 CA393452203 rs_2542701033

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
 CA393499014 rs_2542638801

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
 CA393497344 rs_2542629795

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
NM_001145358.2(SIN3A):c.3418C>T (p.Arg1140Ter) SNV
Germline		 Chr15:75375838 Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation Criteria Provided
Single Submitter

1 SubmittersRCV005621382
NM_001145358.2(SIN3A):c.2479C>T (p.Gln827Ter) SNV
Germline		 Chr15:75392614 Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation Criteria Provided
Single Submitter

1 SubmittersRCV005628432
NM_001145358.2(SIN3A):c.1527-2A>T SNV
Germline		 Chr15:75400942 Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation Criteria Provided
Single Submitter

1 SubmittersRCV005631485
NM_001145358.2(SIN3A):c.387T>A (p.Tyr129Ter) SNV
Germline		 Chr15:75414291 Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation Criteria Provided
Single Submitter

1 SubmittersRCV005881057
NM_001145358.2(SIN3A):c.583C>T (p.Gln195Ter) SNV
Germline		 Chr15:75412936 Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation Criteria Provided
Single Submitter

1 SubmittersRCV006257468
NM_001145358.2(SIN3A):c.473+2T>A SNV
Germline		 Chr15:75414203 Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation Criteria Provided
Single Submitter

1 SubmittersRCV006261907