A total 7 pathogenic variants reported in gene dynein light chain Tctex-type 2B (DYNLT2B)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_152773.5(DYNLT2B):c.317+4A>T SNV
Germline		 Chr3:196306939 Pathogenic Asphyxiating thoracic dystrophy 3
Short-rib thoracic dysplasia 17 with or without polydactyly		 Criteria Provided
Single Submitter
 CA10588959 rs_886039815

1 SubmittersRCV000256484RCV004021043
NM_152773.5(DYNLT2B):c.113+2C>G SNV
Germline		 Chr3:196318038 Pathogenic Short-rib thoracic dysplasia 17 with or without polydactyly No Assertion Criteria Provided
 CA16616878 rs_1056574154

1 SubmittersRCV000477741
NM_152773.5(DYNLT2B):c.262C>T (p.Arg88Ter) SNV
Germline		 Chr3:196306998 Pathogenic Short-rib thoracic dysplasia 17 with or without polydactyly
Condition: not provided		 Criteria Provided
Single Submitter
 CA2779763 rs_771373235

2 SubmittersRCV000477693RCV001383713
NM_152773.5(DYNLT2B):c.221C>G (p.Ser74Ter) SNV
Germline		 Chr3:196316124 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005130409
NM_152773.5(DYNLT2B):c.193G>T (p.Glu65Ter) SNV
Germline		 Chr3:196316152 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005140476