A total 42 pathogenic variants reported in gene regulating synaptic membrane exocytosis 1 (RIMS1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His) SNV
Germline		 Chr6:72251007 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Retinal dystrophy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA116672 rs_121918302

4 SubmittersRCV000004385RCV001074043RCV001386853
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=) SNV
Germline		 Chr6:72235635 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA234795 rs_192179523

2 SubmittersRCV000153843
NM_014989.7(RIMS1):c.2699-8T>C SNV
Germline		 Chr6:72252753 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 7
not specified		 Criteria Provided
Conflicting Classifications
 CA240749 rs_149883454

6 SubmittersRCV000175081RCV000327241RCV001699142
NM_014989.7(RIMS1):c.4506-5G>A SNV
Germline		 Chr6:72392693 Conflicting classifications of pathogenicity Condition: not provided
RIMS1-related disorder		 Criteria Provided
Conflicting Classifications
 CA243777 rs_201556693

4 SubmittersRCV000177566RCV003967423
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=) SNV
Germline		 Chr6:72183004 Conflicting classifications of pathogenicity Condition: not provided
RIMS1-related disorder		 Criteria Provided
Conflicting Classifications
 CA246750 rs_201473375

4 SubmittersRCV000179486RCV003955083
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu) SNV
Germline		 Chr6:72258248 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA3886061 rs_752875047

5 SubmittersRCV000292387RCV000303767RCV004816506
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp) SNV
Germline		 Chr6:72333628 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA3886457 rs_201017334

4 SubmittersRCV000268560RCV000520457RCV004816612
NM_014989.7(RIMS1):c.1384C>A (p.Pro462Thr) SNV
Germline		 Chr6:72182855 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3885691 rs_541997223

3 SubmittersRCV000401473RCV001861290RCV006302162
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser) SNV
Germline		 Chr6:71887051 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3885365 rs_200935038

3 SubmittersRCV000333301RCV000592518
NM_014989.7(RIMS1):c.672A>G (p.Thr224=) SNV
Germline		 Chr6:72179775 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3885567 rs_778273984

2 SubmittersRCV000321595RCV001443308
NM_014989.7(RIMS1):c.1311G>A (p.Arg437=) SNV
Germline		 Chr6:72182782 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3885673 rs_769837216

2 SubmittersRCV000312676RCV002524503
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg) SNV
Germline		 Chr6:72250382 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3885945 rs_199629596

5 SubmittersRCV000266698RCV001242333RCV004857718
NM_014989.7(RIMS1):c.1704T>C (p.Asp568=) SNV
Germline		 Chr6:72233798 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10627488 rs_886061708

2 SubmittersRCV000263079RCV005055928
NM_014989.7(RIMS1):c.3399-4A>G SNV
Germline		 Chr6:72274345 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3886233 rs_368216570

3 SubmittersRCV000335172RCV000598101
NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro) SNV
Germline		 Chr6:72307348 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3886397 rs_201798320

3 SubmittersRCV000303373RCV000899846RCV005722120
NM_014989.7(RIMS1):c.3194+1G>A SNV
Germline		 Chr6:72265053 Conflicting classifications of pathogenicity Condition: not provided
Ornithine aminotransferase deficiency		 Criteria Provided
Conflicting Classifications
 CA16043853 rs_1057519205

3 SubmittersRCV000415728RCV001199743
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) SNV
Germline		 Chr6:71968987 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 7
not specified
RIMS1-related disorder		 Criteria Provided
Conflicting Classifications
 CA3885418 rs_200005095

5 SubmittersRCV000598303RCV001165366RCV004024716RCV004757253
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr) SNV
Germline		 Chr6:72245840 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA3885893 rs_772471723

3 SubmittersRCV000595725
NM_014989.7(RIMS1):c.3588C>T (p.His1196=) SNV
Germline		 Chr6:72290712 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 7		 Criteria Provided
Conflicting Classifications
 CA3886299 rs_762158019

2 SubmittersRCV000923595RCV001163768
NM_014989.7(RIMS1):c.2770+2T>C SNV
Germline		 Chr6:72252834 Likely pathogenic Cone-rod dystrophy 7 No Assertion Criteria Provided
 CA364680665 rs_1590681805

1 SubmittersRCV001028030
NM_014989.7(RIMS1):c.826G>A (p.Gly276Arg) SNV
Germline		 Chr6:72182297 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 7
not specified		 Criteria Provided
Conflicting Classifications
 CA3885601 rs_757160554

3 SubmittersRCV001069488RCV001161853RCV004030715
NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg) SNV
Germline		 Chr6:72290827 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 7
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA3886323 rs_200637817

3 SubmittersRCV001042184RCV001163770RCV004813579
NM_014989.7(RIMS1):c.2370A>G (p.Arg790=) SNV
Germline		 Chr6:72250458 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA140882001 rs_531497232

2 SubmittersRCV001074140RCV001442799
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter) SNV
Germline		 Chr6:72274380 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 7
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA3886244 rs_202076893

4 SubmittersRCV001093178RCV001163481RCV004813757
NM_014989.7(RIMS1):c.1386G>A (p.Pro462=) SNV
Germline		 Chr6:72182857 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA141417550 rs_946973429

2 SubmittersRCV001163670RCV002067990
NM_014989.7(RIMS1):c.3249C>T (p.Ser1083=) SNV
Germline		 Chr6:72265444 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3886183 rs_769791945

2 SubmittersRCV001163478RCV002067987
NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu) SNV
Germline		 Chr6:72291954 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3886349 rs_367601102

5 SubmittersRCV001163771RCV001477730RCV005722293
NM_014989.7(RIMS1):c.4945T>A (p.Ser1649Thr) SNV
Germline		 Chr6:72400580 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3886636 rs_201355053

3 SubmittersRCV001160204RCV001206482RCV004032845
NM_014989.7(RIMS1):c.1957+10C>A SNV
Germline		 Chr6:72237932 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3885855 rs_376761576

2 SubmittersRCV001158741RCV003769760
NM_014989.7(RIMS1):c.2545-4T>C SNV
Germline		 Chr6:72251211 Conflicting classifications of pathogenicity Cone-rod dystrophy 7
Condition: not provided
RIMS1-related disorder		 Criteria Provided
Conflicting Classifications
 CA3885986 rs_747921988

3 SubmittersRCV001158744RCV001477071RCV004731096
NM_014989.7(RIMS1):c.2890A>G (p.Lys964Glu) SNV
Germline		 Chr6:72258244 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 7		 Criteria Provided
Conflicting Classifications
 CA3886060 rs_767699562

2 SubmittersRCV001231926RCV001336225
NM_014989.7(RIMS1):c.3725C>T (p.Pro1242Leu) SNV
Germline		 Chr6:72290849 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3886329 rs_201454406

3 SubmittersRCV001240763RCV004034661
NM_014989.7(RIMS1):c.1679-20587G>A SNV
Germline		 Chr6:72213186 Conflicting classifications of pathogenicity Condition: not provided
RIMS1-related disorder		 No Assertion Criteria Provided
 CA3885754 rs_181193740

2 SubmittersRCV001356408RCV003953683
NM_014989.7(RIMS1):c.3116+8C>T SNV
Germline		 Chr6:72260775 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA567672238 rs_1277312139

2 SubmittersRCV001462466
NM_014989.7(RIMS1):c.3959C>A (p.Ser1320Tyr) SNV
Germline		 Chr6:72307366 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA3886403 rs_140943787

2 SubmittersRCV001502769RCV004815535
NM_014989.7(RIMS1):c.2758G>A (p.Val920Ile) SNV
Germline		 Chr6:72252820 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3886020 rs_376566413

3 SubmittersRCV001591838RCV001866152RCV005437291
NM_014989.7(RIMS1):c.3122T>C (p.Leu1041Pro) SNV
Germline		 Chr6:72264980 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3886149 rs_368839251

3 SubmittersRCV001945753RCV004044181
NM_014989.7(RIMS1):c.706A>G (p.Ser236Gly) SNV
Germline		 Chr6:72179809 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3885569 rs_771519899

2 SubmittersRCV001968635RCV004671572
NM_014989.7(RIMS1):c.3392G>A (p.Arg1131Gln) SNV
Germline		 Chr6:72266043 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3886215 rs_562081460

2 SubmittersRCV002131488RCV004046595
NM_014989.7(RIMS1):c.3667A>G (p.Ile1223Val) SNV
Germline		 Chr6:72290791 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3886313 rs_747607657

2 SubmittersRCV002589661RCV004064631
NM_014989.7(RIMS1):c.1679-20550G>A SNV
Germline		 Chr6:72213223 Likely pathogenic Autism spectrum disorder Criteria Provided
Single Submitter
 CA141421026 rs_560702162

1 SubmittersRCV003128056