ClinVar for MedGen (Select 315928) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499474	NM_014208.3(DSPP):c.3239del (p.Asp1080fs)	DSPP (D1080fs)	Deletion (frameshift variant)	Denticles	GPathogenic
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 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 548665	NM_014208.3(DSPP):c.3504_3508dup (p.Asp1170fs)	DSPP (D1170fs)	Duplication (frameshift variant)	Denticles	GLikely pathogenic
Select item 548664	NM_014208.3(DSPP):c.3135del (p.Ser1045fs)	DSPP (S1045fs)	Deletion (frameshift variant)	Denticles	GLikely 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 16860	NM_014208.3(DSPP):c.2040del (p.Ser680fs)	DSPP (S680fs)	Deletion (frameshift variant)	Denticles	GPathogenic
Select item 16857	NM_014208.3(DSPP):c.16T>G (p.Tyr6Asp)	DSPP (Y6D)	Single nucleotide variant (missense variant)	Denticles	GPathogenic