"PreventionGenetics, part of Exact Sciences"[submitter] AND "DSPP"[gen - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033858	NM_014208.3(DSPP):c.52-8C>T	DSPP	Single nucleotide variant (intron variant)	DSPP-related condition	GLikely benign
Select item 3031766	NM_014208.3(DSPP):c.72G>A (p.Leu24=)	DSPP	Single nucleotide variant (synonymous variant)	DSPP-related condition	GLikely benign
Select item 1612746	NM_014208.3(DSPP):c.85G>A (p.Glu29Lys)	DSPP (E29K)	Single nucleotide variant (missense variant)	DSPP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 260356	NM_014208.3(DSPP):c.136-33T>C	DSPP	Single nucleotide variant	not specified +5 more	GBenign
Select item 260355	NM_014208.3(DSPP):c.136-29T>C	DSPP	Single nucleotide variant	not specified +1 more	GBenign
Select item 16858	NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)	DSPP (R68W)	Single nucleotide variant (missense variant)	DSPP-related condition +3 more	GBenign
Select item 260357	NM_014208.3(DSPP):c.303C>T (p.Asn101=)	DSPP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2635882	NM_014208.3(DSPP):c.353C>T (p.Thr118Ile)	DSPP (T118I)	Single nucleotide variant (missense variant)	DSPP-related condition	GUncertain significance
Select item 260358	NM_014208.3(DSPP):c.708T>C (p.Asp236=)	DSPP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 197292	NM_014208.3(DSPP):c.727G>A (p.Asp243Asn)	DSPP (D243N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3047228	NM_014208.3(DSPP):c.786T>C (p.Asp262=)	DSPP	Single nucleotide variant (synonymous variant)	DSPP-related condition	GLikely benign
Select item 260359	NM_014208.3(DSPP):c.897A>G (p.Ser299=)	DSPP	Single nucleotide variant (synonymous variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +5 more	GBenign
Select item 1203610	NM_014208.3(DSPP):c.903T>G (p.Ser301Arg)	DSPP (S301R)	Single nucleotide variant (missense variant)	DSPP-related condition +1 more	GLikely benign
Select item 2195407	NM_014208.3(DSPP):c.950T>C (p.Val317Ala)	DSPP (V317A)	Single nucleotide variant (missense variant)	DSPP-related condition +1 more	GUncertain significance
Select item 2178622	NM_014208.3(DSPP):c.965C>A (p.Thr322Asn)	DSPP (T322N)	Single nucleotide variant (missense variant)	DSPP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 716335	NM_014208.3(DSPP):c.988G>A (p.Ala330Thr)	DSPP (A330T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 260354	NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys)	DSPP (R354C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1286988	NM_014208.3(DSPP):c.1326T>C (p.Gly442=)	DSPP	Single nucleotide variant (synonymous variant)	DSPP-related condition +1 more	GBenign
Select item 3036041	NM_014208.3(DSPP):c.1428T>C (p.Asp476=)	DSPP	Single nucleotide variant (synonymous variant)	DSPP-related condition	GLikely benign
Select item 2631011	NM_014208.3(DSPP):c.1717del (p.Asp573fs)	DSPP (D573fs)	Deletion (frameshift variant)	DSPP-related condition	GLikely pathogenic
Select item 2216479	NM_014208.3(DSPP):c.1778G>C (p.Ser593Thr)	DSPP (S593T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2629367	NM_014208.3(DSPP):c.1783AGT[1] (p.Ser596del)	DSPP (S596del)	Microsatellite (inframe_deletion)	DSPP-related condition	GUncertain significance
Select item 260353	NM_014208.3(DSPP):c.*17G>A	DSPP	Single nucleotide variant	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +5 more	GBenign

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Items: 23