A total 87 pathogenic variants reported in gene inosine monophosphate dehydrogenase 1 (IMPDH1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) SNV
Germline
Chr7:128398557 Pathogenic/Likely pathogenic Retinitis pigmentosa 10
Condition: not provided
Retinal dystrophy
Retinal disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA257369 rs_121912550

8 SubmittersRCV000015959RCV000255540RCV003887871RCV006635312

NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro) SNV
Germline
Chr7:128398562 Likely pathogenic Retinitis pigmentosa 10
Retinal dystrophy
Criteria Provided
Single Submitter
CA257385 rs_121912552

2 SubmittersRCV000015961RCV003887872

NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) SNV
Germline
Chr7:128400828 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA124376 rs_121912553

6 SubmittersRCV000015962RCV000951177RCV003887873

NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys) SNV
Germline
Chr7:128400120 Pathogenic Leber congenital amaurosis 11 No Assertion Criteria Provided
CA124382 rs_121912554

1 SubmittersRCV000015963

NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=) SNV
Germline
Chr7:128395174 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA221375 rs_62481098

2 SubmittersRCV000079327

NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=) SNV
Germline
Chr7:128395150 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA234130 rs_144587211

2 SubmittersRCV000153378

NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) SNV
Germline
Chr7:128396989 Conflicting classifications of pathogenicity not specified
Leber congenital amaurosis 11
Retinitis pigmentosa
Retinitis pigmentosa 10
Leber congenital amaurosis 11
Condition: not provided
IMPDH1-related disorder
Criteria Provided
Conflicting Classifications
CA239483 rs_72624961

6 SubmittersRCV000174020RCV000281510RCV000322287RCV000765929RCV000877998RCV004535194

NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=) SNV
Germline
Chr7:128396688 Conflicting classifications of pathogenicity Condition: not provided
IMPDH1-related disorder
Criteria Provided
Conflicting Classifications
CA239776 rs_138502867

3 SubmittersRCV000174261RCV004734777

NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) SNV
Germline
Chr7:128405784 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
Criteria Provided
Conflicting Classifications
CA245158 rs_547740249

3 SubmittersRCV000178133RCV000348403RCV000395095

NM_000883.4(IMPDH1):c.624C>G (p.Pro208=) SNV
Germline
Chr7:128400495 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA247561 rs_758909916

2 SubmittersRCV000180193

NM_000883.4(IMPDH1):c.984G>C (p.Gln328His) SNV
Germline
Chr7:128398504 Pathogenic Retinitis pigmentosa 10 No Assertion Criteria Provided
CA10586358 rs_886037911

1 SubmittersRCV000240659

NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=) SNV
Germline
Chr7:128394527 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA4470772 rs_749416988

2 SubmittersRCV000296243

NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=) SNV
Germline
Chr7:128394599 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4470789 rs_148875137

3 SubmittersRCV000361859RCV003298346

NM_000883.4(IMPDH1):c.159C>T (p.Asp53=) SNV
Germline
Chr7:128409472 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA4471261 rs_768265149

2 SubmittersRCV000285638

NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) SNV
Germline
Chr7:128395198 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4470863 rs_199623010

2 SubmittersRCV000316639RCV000376000RCV000949146

NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) SNV
Germline
Chr7:128400350 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
IMPDH1-related disorder
Criteria Provided
Conflicting Classifications
CA4471065 rs_144659635

7 SubmittersRCV000287544RCV000347099RCV000521919RCV003168555RCV004544684

NM_000883.4(IMPDH1):c.1653C>T (p.His551=) SNV
Germline
Chr7:128394497 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4470765 rs_147882304

2 SubmittersRCV000363032RCV000396001RCV001518880

NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) SNV
Germline
Chr7:128398600 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4470993 rs_72624957

3 SubmittersRCV000342291RCV000381950RCV002058652

NM_000883.4(IMPDH1):c.146+9C>T SNV
Germline
Chr7:128409747 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4471278 rs_749118285

2 SubmittersRCV000313500RCV000354378RCV002523582

NM_000883.4(IMPDH1):c.*223C>G SNV
Germline
Chr7:128392784 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA10628264 rs_543042380

1 SubmittersRCV000296114RCV000332038

NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) SNV
Germline
Chr7:128395186 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4470861 rs_780213373

2 SubmittersRCV000261438RCV000369708RCV003556363

NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) SNV
Unknown
Chr7:128398560 Likely pathogenic Retinitis pigmentosa
Leber congenital amaurosis 11
Criteria Provided
Single Submitter
CA16043423 rs_1057518949

1 SubmittersRCV000415244RCV001198950

NM_000883.4(IMPDH1):c.754G>T (p.Ala252Ser) SNV
Germline
Chr7:128400365 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4471066 rs_756851981

4 SubmittersRCV000489513RCV002523410

NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser) SNV
Germline
Chr7:128403731 Conflicting classifications of pathogenicity Condition: not provided
not specified
Inborn genetic diseases
Retinitis pigmentosa 10
Leber congenital amaurosis 11
Criteria Provided
Conflicting Classifications
CA4471191 rs_367549284

5 SubmittersRCV000513057RCV001002241RCV003352900RCV005398729

NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) SNV
Germline
Chr7:128398521 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 10
Criteria Provided
Conflicting Classifications
CA369169047 rs_1562989913

5 SubmittersRCV000757408RCV001074587RCV005645172

NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) SNV
Germline
Chr7:128398526 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA369169078 rs_1584728088

4 SubmittersRCV000787618RCV001560022RCV004818005

NM_000883.4(IMPDH1):c.402+1G>T SNV
Unknown
Chr7:128403705 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA369175877 rs_1562998089

1 SubmittersRCV000787617

NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) SNV
Germline
Chr7:128394552 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Leber congenital amaurosis 11
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA4470775 rs_144498273

7 SubmittersRCV000787840RCV000878134RCV001159891RCV004818020

NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) SNV
Germline
Chr7:128396955 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA4470928 rs_61751223

6 SubmittersRCV000877808RCV001162852RCV001162853RCV004818072

NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) SNV
Germline
Chr7:128394950 Conflicting classifications of pathogenicity Condition: not provided
not specified
Retinal dystrophy
IMPDH1-related disorder
Criteria Provided
Conflicting Classifications
CA4470817 rs_72624967

4 SubmittersRCV000946293RCV001002242RCV003890101RCV004533626

NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) SNV
Germline
Chr7:128398558 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 11
not specified
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA4470984 rs_150531977

5 SubmittersRCV000951821RCV001159999RCV001700518RCV001160000RCV003890105

NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) SNV
Germline
Chr7:128409442 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
IMPDH1-related disorder
Thyroid cancer, nonmedullary, 1
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA4471256 rs_143796089

5 SubmittersRCV000945885RCV001165039RCV001165040RCV004735905RCV005903241RCV005903240

NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) SNV
Germline
Chr7:128394482 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
not specified
Criteria Provided
Conflicting Classifications
CA4470760 rs_201803921

4 SubmittersRCV000883210RCV001164811RCV001164810RCV001701347

NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) SNV
Germline
Chr7:128394488 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
Criteria Provided
Conflicting Classifications
CA4470762 rs_139785999

2 SubmittersRCV000904634RCV001164813RCV001164812

NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro) SNV
Germline
Chr7:128398529 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA369169111 rs_1584728115

1 SubmittersRCV001003054

NM_000883.4(IMPDH1):c.255-2A>G SNV
Germline
Chr7:128405867 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA369178796 rs_1238921380

3 SubmittersRCV001199478RCV001306605

NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) SNV
Germline
Chr7:128409831 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Criteria Provided
Conflicting Classifications
CA166138005 rs_946898300

3 SubmittersRCV001158326RCV001158325RCV001305635

NM_000883.4(IMPDH1):c.946C>T (p.Arg316Ter) SNV
Germline
Chr7:128398542 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA369169237 rs_1282816133

1 SubmittersRCV001067288

NM_000883.4(IMPDH1):c.932A>G (p.Asp311Gly) SNV
Germline
Chr7:128398556 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA369169403 rs_1798091523

1 SubmittersRCV001068017

NM_000883.4(IMPDH1):c.698G>C (p.Gly233Ala) SNV
Germline
Chr7:128400421 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 10
Criteria Provided
Conflicting Classifications
CA369173449 rs_1272549405

2 SubmittersRCV001064687RCV003389484

NM_000883.4(IMPDH1):c.943A>T (p.Asn315Tyr) SNV
Germline
Chr7:128398545 Conflicting classifications of pathogenicity Retinal dystrophy
Retinitis pigmentosa 10
Criteria Provided
Conflicting Classifications
CA369169260 rs_1798090339

2 SubmittersRCV001074851RCV005913611

NM_000883.4(IMPDH1):c.875-16C>G SNV
Germline
Chr7:128398629 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4471000 rs_767333304

2 SubmittersRCV001073270RCV003558649

NM_000883.4(IMPDH1):c.*196C>T SNV
Germline
Chr7:128392811 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA166119637 rs_72624974

1 SubmittersRCV001161184RCV001161183

NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu) SNV
Germline
Chr7:128395256 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4470872 rs_763999626

2 SubmittersRCV001162849RCV001162848RCV001462652

NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) SNV
Germline
Chr7:128396635 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 10
Criteria Provided
Conflicting Classifications
CA4470898 rs_375914533

3 SubmittersRCV001162851RCV001162850RCV001510613RCV001593301

NM_000883.4(IMPDH1):c.675T>C (p.Ser225=) SNV
Germline
Chr7:128400444 Conflicting classifications of pathogenicity Retinitis pigmentosa
Leber congenital amaurosis 11
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4471082 rs_373353058

2 SubmittersRCV001161420RCV001161421RCV002558539

NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) SNV
Germline
Chr7:128400835 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4471124 rs_1042250

2 SubmittersRCV001162954RCV001162955RCV001393541

NM_000883.4(IMPDH1):c.255-10C>T SNV
Germline
Chr7:128405875 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA577708691 rs_1478038443

2 SubmittersRCV001165037RCV001165038RCV001402946

NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn) SNV
Germline
Chr7:128398546 Conflicting classifications of pathogenicity Leber congenital amaurosis 11
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA369169270 rs_1798090540

2 SubmittersRCV001198071RCV004813845

NM_000883.4(IMPDH1):c.968A>G (p.Lys323Arg) SNV
Germline
Chr7:128398520 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 10
Leber congenital amaurosis 11
Criteria Provided
Multiple Submitters
No Conflicts
CA369169029 rs_1798086782

5 SubmittersRCV001207064RCV005866859RCV004698350

NM_000883.4(IMPDH1):c.354C>T (p.Asn118=) SNV
Germline
Chr7:128403754 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA457528686 rs_1798504836

2 SubmittersRCV001202310RCV003890346

NM_000883.4(IMPDH1):c.799A>G (p.Arg267Gly) SNV
Germline
Chr7:128400170 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4471027 rs_751763023

4 SubmittersRCV001309756RCV003888013RCV005582677

NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met) SNV
Germline
Chr7:128395003 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 10
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA4470828 rs_201001000

5 SubmittersRCV001349260RCV003479315RCV003888054

NM_000883.4(IMPDH1):c.218G>A (p.Gly73Asp) SNV
Germline
Chr7:128409325 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 10
Leber congenital amaurosis 11
Criteria Provided
Conflicting Classifications
CA4471235 rs_139979391

3 SubmittersRCV001486627RCV005395037

NM_000883.4(IMPDH1):c.1048C>T (p.Gln350Ter) SNV
Germline
Chr7:128398440 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA369168007 rs_1218568607

1 SubmittersRCV001960283

NM_000883.4(IMPDH1):c.849T>A (p.Asn283Lys) SNV
Germline
Chr7:128400120 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA369171839 rs_121912554

1 SubmittersRCV001972635

NM_000883.4(IMPDH1):c.1031G>A (p.Arg344His) SNV
Germline
Chr7:128398457 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA369168218 rs_1238910577

2 SubmittersRCV001943700RCV003888916

NM_000883.4(IMPDH1):c.1433C>G (p.Thr478Ser) SNV
Germline
Chr7:128395006 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA4470829 rs_564132747

2 SubmittersRCV002042732RCV003888994

NM_000883.4(IMPDH1):c.1056C>T (p.Gly352=) SNV
Germline
Chr7:128398432 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA4470973 rs_779143637

2 SubmittersRCV002112126RCV003889043

NM_000883.4(IMPDH1):c.942G>C (p.Lys314Asn) SNV
Germline
Chr7:128398546 Pathogenic Retinitis pigmentosa 10 Criteria Provided
Single Submitter
CA369169283 rs_1798090540

1 SubmittersRCV004798947

NM_000883.4(IMPDH1):c.1540C>T (p.Arg514Ter) SNV
Germline
Chr7:128394899 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA369162709 rs_1343867350

1 SubmittersRCV002576461

NM_000883.4(IMPDH1):c.146+2T>G SNV
Germline
Chr7:128409754 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA369181619 rs_1354063885

1 SubmittersRCV002597032

NM_000883.4(IMPDH1):c.1490G>A (p.Arg497Gln) SNV
Germline
Chr7:128394949 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 11
Criteria Provided
Conflicting Classifications
CA4470816 rs_765746859

2 SubmittersRCV002957797RCV005638189

NM_000883.4(IMPDH1):c.1262-1G>T SNV
Germline
Chr7:128395275 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA369164165 rs_1280344503

1 SubmittersRCV003018653

NM_000883.4(IMPDH1):c.1417T>C (p.Ser473Pro) SNV
Unknown
Chr7:128395022 Likely pathogenic Retinitis pigmentosa 10 Criteria Provided
Single Submitter
CA369163237 rs_2116601689

1 SubmittersRCV003389600

NM_000883.4(IMPDH1):c.859C>T (p.Gln287Ter) SNV
Germline
Chr7:128400110 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA166127956 rs_982830278

1 SubmittersRCV003682521

NM_000883.4(IMPDH1):c.256A>G (p.Met86Val) SNV
Germline
Chr7:128405864 Likely pathogenic Retinitis pigmentosa 10 No Assertion Criteria Provided

1 SubmittersRCV004691608

NM_000883.4(IMPDH1):c.736C>T (p.Arg246Ter) SNV
Germline
Chr7:128400383 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA4471071 rs_754031943

1 SubmittersRCV003866069

NM_000883.4(IMPDH1):c.1299C>A (p.Tyr433Ter) SNV
Germline
Chr7:128395237 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA369163942 rs_2535731868

1 SubmittersRCV003891139

NM_000883.4(IMPDH1):c.809T>G (p.Leu270Arg) SNV
Germline
Chr7:128400160 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA369172172 rs_2535761770

1 SubmittersRCV003891151

NM_000883.4(IMPDH1):c.889G>A (p.Val297Ile) SNV
Germline
Chr7:128398599 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications

4 SubmittersRCV004815780RCV005101944RCV005353342RCV005435430

NM_000883.4(IMPDH1):c.1094C>A (p.Ser365Ter) SNV
Germline
Chr7:128397003 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005121054

NM_000883.4(IMPDH1):c.1405+1G>A SNV
Germline
Chr7:128395130 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005187695