Total 17 pathogenic variants reported for Dentinogenesis imperfecta type 2

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_014208.3(DSPP):c.133C>T (p.Gln45Ter)	SNV Germline	Chr4:87612186	Pathogenic	Dentinogenesis imperfecta type 2	No Assertion Criteria Provided	CA126924	rs_121912985	1 SubmittersRCV000018347
NM_014208.3(DSPP):c.135+1G>A	SNV Germline	Chr4:87612189	Pathogenic	Dentinogenesis imperfecta type 2 Condition: not provided DSPP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA357602877	rs_1560477489	4 SubmittersRCV000018348 RCV002513100 RCV004528120
NM_014208.3(DSPP):c.52G>T (p.Val18Phe)	SNV Germline	Chr4:87612105	Pathogenic	Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta type 2 Dentinogenesis imperfecta type 3	No Assertion Criteria Provided	CA126927	rs_121912987	1 SubmittersRCV000018350 RCV000018351 RCV000018352
NM_014208.3(DSPP):c.44C>T (p.Ala15Val)	SNV Germline	Chr4:87610952	Pathogenic	Dentinogenesis imperfecta type 2 Condition: not provided	Criteria Provided Single Submitter	CA126930	rs_121912989	2 SubmittersRCV000018355 RCV001268904
NM_014208.3(DSPP):c.53T>A (p.Val18Asp)	SNV Unknown	Chr4:87612106	Likely pathogenic	Dentinogenesis imperfecta type 2	Criteria Provided Single Submitter	CA357602695	rs_1727745724	1 SubmittersRCV001775372
NM_014208.3(DSPP):c.139G>A (p.Glu47Lys)	SNV Germline	Chr4:87612325	Conflicting classifications of pathogenicity	Dentinogenesis imperfecta type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA357602898	rs_1218312896	2 SubmittersRCV003313342 RCV005554925
NM_014208.3(DSPP):c.1531G>T (p.Glu511Ter)	SNV Germline	Chr4:87614193	Likely pathogenic	Dentinogenesis imperfecta type 2	Criteria Provided Single Submitter			1 SubmittersRCV005253364