ClinVar for MedGen (Select 97995) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691573	NM_014208.3(DSPP):c.981G>T (p.Glu327Asp)	DSPP (E327D)	Single nucleotide variant (missense variant)	Denticles +4 more	GUncertain significance
Select item 1679356	NM_014208.3(DSPP):c.3565_3566insCAGCAGCGATA (p.Ser1189fs)	DSPP (S1189fs)	Insertion (frameshift variant)	Dentinogenesis imperfecta type 3	GLikely pathogenic
Select item 1339490	NM_014208.3(DSPP):c.1874_1877del (p.Asp625fs)	DSPP (D625fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 3	GLikely pathogenic
Select item 982865	NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp)	DSPP (N1179D)	Indel (missense variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +3 more	GUncertain significance
Select item 817628	NM_014208.3(DSPP):c.2525del (p.Ser842fs)	DSPP (S842fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2 +4 more	GPathogenic/Likely pathogenic
Select item 260359	NM_014208.3(DSPP):c.897A>G (p.Ser299=)	DSPP	Single nucleotide variant (synonymous variant)	Denticles +5 more	GBenign
Select item 260356	NM_014208.3(DSPP):c.136-33T>C	DSPP	Single nucleotide variant	not specified +5 more	GBenign
Select item 260353	NM_014208.3(DSPP):c.*17G>A	DSPP	Single nucleotide variant	Denticles +5 more	GBenign
Select item 16856	NM_014208.3(DSPP):c.52G>T (p.Val18Phe)	DSPP (V18F)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 3 +2 more	GPathogenic

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