Total 22 pathogenic variants reported for Opsismodysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001567.4(INPPL1):c.1976C>T (p.Pro659Leu) SNV
Germline		 Chr11:72233099 Pathogenic Opsismodysplasia No Assertion Criteria Provided
 CA130322 rs_397514508

2 SubmittersRCV000032669
NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter) SNV
Germline		 Chr11:72229116 Pathogenic Opsismodysplasia No Assertion Criteria Provided
 CA130324 rs_397514509

2 SubmittersRCV000032670
NM_001567.4(INPPL1):c.2415+1G>A SNV
Germline		 Chr11:72234616 Pathogenic Opsismodysplasia No Assertion Criteria Provided
 CA213056 rs_655423

1 SubmittersRCV000032672
NM_001567.4(INPPL1):c.1975C>T (p.Pro659Ser) SNV
Germline		 Chr11:72233098 Pathogenic Opsismodysplasia No Assertion Criteria Provided
 CA130326 rs_397514510

1 SubmittersRCV000032673
NM_001567.4(INPPL1):c.1201C>T (p.Arg401Trp) SNV
Germline		 Chr11:72230799 Pathogenic Opsismodysplasia No Assertion Criteria Provided
 CA130327 rs_397514511

1 SubmittersRCV000032675
NM_001567.4(INPPL1):c.2164T>A (p.Phe722Ile) SNV
Germline		 Chr11:72233696 Pathogenic Opsismodysplasia No Assertion Criteria Provided
 CA130328 rs_397514512

1 SubmittersRCV000032676
NM_001567.4(INPPL1):c.2071C>T (p.Arg691Trp) SNV
Germline		 Chr11:72233471 Pathogenic Opsismodysplasia No Assertion Criteria Provided
 CA10581440 rs_878853123

1 SubmittersRCV000224467
NM_001567.4(INPPL1):c.939+1G>A SNV
Unknown		 Chr11:72230020 Pathogenic Opsismodysplasia Criteria Provided
Single Submitter
 rs_1948786646

1 SubmittersRCV001197991
NM_001567.4(INPPL1):c.2213-2A>C SNV
Germline		 Chr11:72234279 Pathogenic/Likely pathogenic Opsismodysplasia Criteria Provided
Multiple Submitters
No Conflicts
 rs_1948918434

2 SubmittersRCV001328856
NM_001567.4(INPPL1):c.306C>G (p.Tyr102Ter) SNV
Germline		 Chr11:72228407 Pathogenic Opsismodysplasia Criteria Provided
Single Submitter
 rs_779291537

1 SubmittersRCV001783481
NM_001567.4(INPPL1):c.2356C>T (p.Gln786Ter) SNV
Germline		 Chr11:72234556 Likely pathogenic Opsismodysplasia Criteria Provided
Single Submitter
 rs_2135438529

1 SubmittersRCV001782304