Total 86 pathogenic variants reported for Mulibrey nanism syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_015294.6(TRIM37):c.493-2A>G SNV
Germline		 Chr17:59079879 Pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_186251998

3 SubmittersRCV000005552RCV003555925
NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser) SNV
Germline		 Chr17:59084045 Pathogenic Mulibrey nanism syndrome No Assertion Criteria Provided
 CA117350 rs_121908391

1 SubmittersRCV000005557
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) SNV
Germline		 Chr17:59064355 Likely pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA117351 rs_386834008

3 SubmittersRCV000005558RCV000729885
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) SNV
Germline		 Chr17:59049297 Pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144368 rs_386834001

4 SubmittersRCV000049978RCV000734622
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) SNV
Unknown		 Chr17:59028616 Pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter
 CA144372 rs_386834003

2 SubmittersRCV000049980
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro) SNV
Germline		 Chr17:59088345 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
TRIM37-related disorder		 Criteria Provided
Conflicting Classifications
 CA144376 rs_386834004

3 SubmittersRCV000049982RCV003415819
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) SNV
Germline		 Chr17:59070887 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA144378 rs_386834005

4 SubmittersRCV000049983RCV003556136
NM_015294.6(TRIM37):c.810-1G>A SNV
Germline		 Chr17:59064406 Pathogenic/Likely pathogenic Mulibrey nanism syndrome No Assertion Criteria Provided
 CA144381 rs_386834006

2 SubmittersRCV000049984
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val) SNV
Not provided		 Chr17:59061086 Likely pathogenic Mulibrey nanism syndrome No Assertion Criteria Provided
 CA144383 rs_386834009

1 SubmittersRCV000049987
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) SNV
Germline		 Chr17:59031925 Conflicting classifications of pathogenicity Condition: not provided
Mulibrey nanism syndrome		 Criteria Provided
Conflicting Classifications
 CA8678175 rs_112762655

6 SubmittersRCV000350888RCV000354466
NM_015294.6(TRIM37):c.2754T>C (p.His918=) SNV
Germline		 Chr17:59001656 Conflicting classifications of pathogenicity Condition: not provided
Mulibrey nanism syndrome		 Criteria Provided
Conflicting Classifications
 CA8677951 rs_746826852

2 SubmittersRCV003736718RCV000344361
NM_015294.6(TRIM37):c.1446C>T (p.Leu482=) SNV
Germline		 Chr17:59049262 Conflicting classifications of pathogenicity Condition: not provided
Mulibrey nanism syndrome		 Criteria Provided
Conflicting Classifications
 CA8678297 rs_774383633

2 SubmittersRCV003727678RCV000376553
NM_015294.6(TRIM37):c.828C>T (p.Tyr276=) SNV
Germline		 Chr17:59064387 Conflicting classifications of pathogenicity Condition: not provided
Mulibrey nanism syndrome		 Criteria Provided
Conflicting Classifications
 CA8678506 rs_776019614

2 SubmittersRCV003727679RCV000399584
NM_015294.6(TRIM37):c.2544G>A (p.Ala848=) SNV
Germline		 Chr17:59015642 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8678024 rs_532325984

2 SubmittersRCV000371103RCV002524430
NM_015294.6(TRIM37):c.2430C>T (p.Pro810=) SNV
Germline		 Chr17:59015756 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
Condition: not provided
TRIM37-related disorder		 Criteria Provided
Conflicting Classifications
 CA8678039 rs_147639509

4 SubmittersRCV000355946RCV000880319RCV003969921
NM_015294.6(TRIM37):c.2316A>G (p.Leu772=) SNV
Germline		 Chr17:59017366 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8678084 rs_765983264

2 SubmittersRCV000263515RCV002524431
NM_015294.6(TRIM37):c.1815C>T (p.Ser605=) SNV
Germline		 Chr17:59032029 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8678188 rs_142101613

2 SubmittersRCV000266716RCV000908861
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) SNV
Germline		 Chr17:59079784 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter
 rs_1568191596

2 SubmittersRCV000680212
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) SNV
Germline		 Chr9:70598463 Pathogenic/Likely pathogenic Seizure
Global developmental delay
Condition: not provided
Intellectual disability
Mulibrey nanism syndrome
TRPM3-related disorder
Autosomal dominant non-syndromic intellectual disability
Birk-Barel syndrome
Inborn genetic diseases
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1564493599

13 SubmittersRCV000766226RCV000709842RCV001199967RCV001267689RCV001809776RCV002287440RCV002289990RCV004026786RCV003148840
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) SNV
Germline		 Chr17:59017402 Conflicting classifications of pathogenicity Condition: not provided
Mulibrey nanism syndrome		 Criteria Provided
Conflicting Classifications
 rs_767616734

3 SubmittersRCV000728739RCV001127155
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) SNV
Germline		 Chr17:59088391 Pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_373520509

3 SubmittersRCV000761536RCV003558564
NM_015294.6(TRIM37):c.2262A>G (p.Thr754=) SNV
Germline		 Chr17:59017420 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_187769000

2 SubmittersRCV001127156RCV002070079
NM_015294.6(TRIM37):c.1330C>T (p.Leu444=) SNV
Germline		 Chr17:59049378 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_143621221

2 SubmittersRCV001124185RCV002070025
NM_015294.6(TRIM37):c.1152C>T (p.Leu384=) SNV
Germline		 Chr17:59056922 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_199714666

2 SubmittersRCV001124187RCV003769200
NM_015294.6(TRIM37):c.1200-5T>C SNV
Germline		 Chr17:59051333 Conflicting classifications of pathogenicity Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1326036403

2 SubmittersRCV001124186RCV003769199
NM_014906.5(PPM1E):c.*1892T>A SNV
Unknown		 Chr17:58982923 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter
 rs_1567903706

1 SubmittersRCV001197354
NM_015294.6(TRIM37):c.1949-12A>G SNV
Germline		 Chr17:59028735 Pathogenic Mulibrey nanism syndrome No Assertion Criteria Provided
 rs_1409660715

1 SubmittersRCV001418333
NM_015294.6(TRIM37):c.1243C>T (p.Gln415Ter) SNV
Germline		 Chr17:59051285 Pathogenic/Likely pathogenic Condition: not provided
Mulibrey nanism syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_757148418

2 SubmittersRCV002007468RCV003475208
NM_015294.6(TRIM37):c.1948+2T>C SNV
Germline		 Chr17:59031894 Likely pathogenic See cases
Mulibrey nanism syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2145613542

2 SubmittersRCV002252376RCV003475313
NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter) SNV
Germline		 Chr17:59057026 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003131769
NM_015294.6(TRIM37):c.370-1G>A SNV
Germline		 Chr17:59081220 Pathogenic/Likely pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003317986RCV003699066
NM_015294.6(TRIM37):c.1987C>T (p.Gln663Ter) SNV
Unknown		 Chr17:59028685 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474136
NM_015294.6(TRIM37):c.1020-1G>C SNV
Germline		 Chr17:59057055 Likely pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474138RCV003779129
NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter) SNV
Germline		 Chr17:59017389 Pathogenic/Likely pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474139RCV003689100
NM_015294.6(TRIM37):c.1999C>T (p.Arg667Ter) SNV
Germline		 Chr17:59028673 Pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474140RCV003779130
NM_015294.6(TRIM37):c.1668-1G>C SNV
Unknown		 Chr17:59041899 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474141
NM_015294.6(TRIM37):c.1081C>T (p.Arg361Ter) SNV
Germline		 Chr17:59056993 Pathogenic/Likely pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474142RCV003732597
NM_015294.6(TRIM37):c.123+1G>A SNV
Unknown		 Chr17:59104292 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474143
NM_015294.6(TRIM37):c.40C>T (p.Arg14Ter) SNV
Unknown		 Chr17:59104376 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474148
NM_015294.6(TRIM37):c.265G>T (p.Glu89Ter) SNV
Unknown		 Chr17:59088307 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474149
NM_015294.6(TRIM37):c.640G>T (p.Glu214Ter) SNV
Unknown		 Chr17:59075691 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474150
NM_015294.6(TRIM37):c.1808T>A (p.Leu603Ter) SNV
Unknown		 Chr17:59032036 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474152
NM_015294.6(TRIM37):c.1291C>T (p.Gln431Ter) SNV
Germline		 Chr17:59051237 Pathogenic/Likely pathogenic Mulibrey nanism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474153RCV003779131
NM_015294.6(TRIM37):c.165-2A>G SNV
Unknown		 Chr17:59088409 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474154
NM_015294.6(TRIM37):c.961C>T (p.Arg321Ter) SNV
Unknown		 Chr17:59061090 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474159
NM_015294.6(TRIM37):c.637C>T (p.Gln213Ter) SNV
Unknown		 Chr17:59075694 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003474160
NM_015294.6(TRIM37):c.616+1G>A SNV
Unknown		 Chr17:59079753 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573752
NM_015294.6(TRIM37):c.2395G>T (p.Gly799Ter) SNV
Unknown		 Chr17:59015791 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573754
NM_015294.6(TRIM37):c.2695+1G>A SNV
Unknown		 Chr17:59012327 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573755
NM_015294.6(TRIM37):c.2576+1G>A SNV
Unknown		 Chr17:59015609 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573756
NM_015294.6(TRIM37):c.1349C>G (p.Ser450Ter) SNV
Unknown		 Chr17:59049359 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573759
NM_015294.6(TRIM37):c.1939C>T (p.Gln647Ter) SNV
Unknown		 Chr17:59031905 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573761
NM_015294.6(TRIM37):c.1020-1G>T SNV
Unknown		 Chr17:59057055 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573762
NM_015294.6(TRIM37):c.1250G>A (p.Trp417Ter) SNV
Unknown		 Chr17:59051278 Likely pathogenic Mulibrey nanism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004573763