ClinVar for MedGen (Select 424922) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064700	NM_014208.3(DSPP):c.3120_3128del (p.1032DSS[7])	DSPP	Deletion (inframe_deletion)	Dentinogenesis imperfecta type 2	GUncertain significance
Select item 2663798	NM_014208.3(DSPP):c.3538_3550del (p.Ser1180fs)	DSPP (S1180fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	GPathogenic
Select item 2627557	NM_014208.3(DSPP):c.1805del (p.Ser602fs)	DSPP (S602fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	GLikely pathogenic
Select item 2579753	NM_014208.3(DSPP):c.2317del (p.Ser773fs)	DSPP (S773fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	GPathogenic
Select item 2579752	NM_014208.3(DSPP):c.3555del (p.Asp1185fs)	DSPP (D1185fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	GPathogenic
Select item 2571632	NM_014208.3(DSPP):c.139G>A (p.Glu47Lys)	DSPP (E47K)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 2	GUncertain significance
Select item 2499473	NM_014208.3(DSPP):c.2852del (p.Ser951fs)	DSPP (S951fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	GLikely pathogenic
Select item 2499472	NM_014208.3(DSPP):c.2833del (p.Ser945fs)	DSPP (S945fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	GLikely pathogenic
Select item 2444169	NM_014208.3(DSPP):c.3696_3699del (p.Asn1232fs)	DSPP (N1232fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	GUncertain significance
Select item 1709870	NM_014208.3(DSPP):c.2427del (p.Ser809fs)	DSPP (S809fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	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 1320199	NM_014208.3(DSPP):c.53T>A (p.Val18Asp)	DSPP (V18D)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 2	GLikely pathogenic
Select item 1299353	NM_014208.3(DSPP):c.3611del (p.Ser1204fs)	DSPP (S1204fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	GLikely pathogenic
Select item 996079	NM_014208.3(DSPP):c.53T>G (p.Val18Gly)	DSPP (V18G)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 2	GPathogenic
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 930250	NM_014208.3(DSPP):c.3003C>G (p.Ser1001Arg)	DSPP (S1001R)	Single nucleotide variant (missense variant)	Dentinogenesis imperfecta type 2	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 16861	NM_014208.3(DSPP):c.3438del (p.Asp1146fs)	DSPP (D1146fs)	Deletion (frameshift variant)	Dentinogenesis imperfecta type 2	GPathogenic
Select item 16859	NM_014208.3(DSPP):c.44C>T (p.Ala15Val)	DSPP (A15V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 16858	NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)	DSPP (R68W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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
Select item 16854	NM_014208.3(DSPP):c.135+1G>A	DSPP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 16853	NM_014208.3(DSPP):c.133C>T (p.Gln45Ter)	DSPP (Q45*)	Single nucleotide variant (nonsense)	Dentinogenesis imperfecta type 2	GPathogenic

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Items: 26