"GeneDx"[submitter] AND "DSPP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 1196544	NM_014208.3(DSPP):c.-28-236T>C	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179349	NM_014208.3(DSPP):c.-28-233C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205564	NM_014208.3(DSPP):c.-28-227C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250207	NM_014208.3(DSPP):c.-28-166C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191255	NM_014208.3(DSPP):c.-28-132C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314005	NM_014208.3(DSPP):c.4A>G (p.Lys2Glu)	DSPP (K2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314764	NM_014208.3(DSPP):c.19T>G (p.Phe7Val)	DSPP (F7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289383	NM_014208.3(DSPP):c.51+72GT[21]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1285915	NM_014208.3(DSPP):c.51+72GT[18]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1276925	NM_014208.3(DSPP):c.51+72GT[19]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1269186	NM_014208.3(DSPP):c.51+72GT[17]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1219816	NM_014208.3(DSPP):c.51+71_51+78del	DSPP	Deletion (intron variant)	not provided	GLikely benign
Select item 1298011	NM_014208.3(DSPP):c.51+72GT[14]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1281125	NM_014208.3(DSPP):c.51+72GT[15]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1197925	NM_014208.3(DSPP):c.51+141T>C	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201605	NM_014208.3(DSPP):c.52-205C>T	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244325	NM_014208.3(DSPP):c.52-93TG[16]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1272159	NM_014208.3(DSPP):c.52-93TG[14]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1270839	NM_014208.3(DSPP):c.52-93TG[12]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1251915	NM_014208.3(DSPP):c.52-93TG[13]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 1235086	NM_014208.3(DSPP):c.52-93TG[11]	DSPP	Microsatellite (intron variant)	not provided	GBenign
Select item 384505	NM_014208.3(DSPP):c.52-1G>C	DSPP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1612746	NM_014208.3(DSPP):c.85G>A (p.Glu29Lys)	DSPP (E29K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3369712	NM_014208.3(DSPP):c.91T>C (p.Ser31Pro)	DSPP (S31P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711934	NM_014208.3(DSPP):c.113C>A (p.Ala38Glu)	DSPP (A38E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 741906	NM_014208.3(DSPP):c.144A>G (p.Leu48=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1194811	NM_014208.3(DSPP):c.148G>C (p.Ala50Pro)	DSPP (A50P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715999	NM_014208.3(DSPP):c.180G>T (p.Leu60=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2576835	NM_014208.3(DSPP):c.199G>A (p.Gly67Arg)	DSPP (G67R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16858	NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)	DSPP (R68W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1800976	NM_014208.3(DSPP):c.211A>T (p.Asn71Tyr)	DSPP (N71Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1254181	NM_014208.3(DSPP):c.304G>A (p.Glu102Lys)	DSPP (E102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710263	NM_014208.3(DSPP):c.363T>C (p.His121=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 834048	NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs)	DSPP (G123fs)	Indel (frameshift variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +1 more	GConflicting classifications of pathogenicity
Select item 740777	NM_014208.3(DSPP):c.368G>C (p.Gly123Ala)	DSPP (G123A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 787807	NM_014208.3(DSPP):c.392T>C (p.Ile131Thr)	DSPP (I131T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2442765	NM_014208.3(DSPP):c.398C>A (p.Ala133Glu)	DSPP (A133E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806686	NM_014208.3(DSPP):c.505G>A (p.Asp169Asn)	DSPP (D169N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3086026	NM_014208.3(DSPP):c.512G>A (p.Gly171Asp)	DSPP (G171D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1706187	NM_014208.3(DSPP):c.512G>T (p.Gly171Val)	DSPP (G171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712815	NM_014208.3(DSPP):c.584A>G (p.Asn195Ser)	DSPP (N195S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307780	NM_014208.3(DSPP):c.619G>A (p.Glu207Lys)	DSPP (E207K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218421	NM_014208.3(DSPP):c.657C>T (p.Ser219=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 783423	NM_014208.3(DSPP):c.691C>A (p.Pro231Thr)	DSPP (P231T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1206841	NM_014208.3(DSPP):c.703G>A (p.Glu235Lys)	DSPP (E235K)	Single nucleotide variant (missense variant)	not provided	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 1213469	NM_014208.3(DSPP):c.713G>A (p.Gly238Asp)	DSPP (G238D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197292	NM_014208.3(DSPP):c.727G>A (p.Asp243Asn)	DSPP (D243N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1314216	NM_014208.3(DSPP):c.761A>T (p.Asp254Val)	DSPP (D254V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593121	NM_014208.3(DSPP):c.768C>T (p.Asp256=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1304712	NM_014208.3(DSPP):c.769G>A (p.Glu257Lys)	DSPP (E257K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726058	NM_014208.3(DSPP):c.777T>C (p.Ser259=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 783424	NM_014208.3(DSPP):c.802G>T (p.Gly268Trp)	DSPP (G268W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2446511	NM_014208.3(DSPP):c.885A>G (p.Ile295Met)	DSPP (I295M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260359	NM_014208.3(DSPP):c.897A>G (p.Ser299=)	DSPP	Single nucleotide variant (synonymous variant)	Denticles +5 more	GBenign
Select item 1478315	NM_014208.3(DSPP):c.899A>G (p.Asp300Gly)	DSPP (D300G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203610	NM_014208.3(DSPP):c.903T>G (p.Ser301Arg)	DSPP (S301R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 716335	NM_014208.3(DSPP):c.988G>A (p.Ala330Thr)	DSPP (A330T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1210961	NM_014208.3(DSPP):c.1014C>A (p.Ser338Arg)	DSPP (S338R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1185809	NM_014208.3(DSPP):c.1024G>A (p.Glu342Lys)	DSPP (E342K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 689607	NM_014208.3(DSPP):c.1031C>A (p.Thr344Asn)	DSPP (T344N)	Single nucleotide variant (missense variant)	not provided +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 1313932	NM_014208.3(DSPP):c.1061G>A (p.Arg354His)	DSPP (R354H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1216499	NM_014208.3(DSPP):c.1062C>T (p.Arg354=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 197293	NM_014208.3(DSPP):c.1063G>A (p.Val355Ile)	DSPP (V355I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 290804	NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys)	DSPP (R358K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1217655	NM_014208.3(DSPP):c.1122+85A>T	DSPP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238065	NM_014208.3(DSPP):c.1123-174G>A	DSPP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1339600	NM_014208.3(DSPP):c.1126A>G (p.Ile376Val)	DSPP (I376V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2225842	NM_014208.3(DSPP):c.1202A>G (p.Asp401Gly)	DSPP (D401G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1326758	NM_014208.3(DSPP):c.1258G>T (p.Val420Phe)	DSPP (V420F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995083	NM_014208.3(DSPP):c.1259T>C (p.Val420Ala)	DSPP (V420A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1286988	NM_014208.3(DSPP):c.1326T>C (p.Gly442=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1202147	NM_014208.3(DSPP):c.1338T>C (p.Asn446=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663045	NM_014208.3(DSPP):c.1392T>A (p.Asp464Glu)	DSPP (D464E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307040	NM_014208.3(DSPP):c.1411T>C (p.Ser471Pro)	DSPP (S471P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576693	NM_014208.3(DSPP):c.1577G>A (p.Ser526Asn)	DSPP (S526N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691132	NM_014208.3(DSPP):c.1628G>A (p.Gly543Asp)	DSPP (G543D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313666	NM_014208.3(DSPP):c.1770_1772del (p.Ser591del)	DSPP (S591del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1244193	NM_014208.3(DSPP):c.1971C>T (p.Ser657=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 504130	NM_014208.3(DSPP):c.2002AGT[1] (p.Ser669del)	DSPP (S669del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 420620	NM_014208.3(DSPP):c.2096G>A (p.Ser699Asn)	DSPP (S699N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233150	NM_014208.3(DSPP):c.2214_2231del (p.Asn739_Ser744del)	DSPP	Deletion (inframe_deletion)	not provided	GBenign
Select item 1200321	NM_014208.3(DSPP):c.2224G>C (p.Asp742His)	DSPP (D742H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1271330	NM_014208.3(DSPP):c.2286_2303del (p.Asn763_Ser768del)	DSPP	Deletion (inframe_deletion)	not provided	GBenign
Select item 1212981	NM_014208.3(DSPP):c.2359G>A (p.Asp787Asn)	DSPP (D787N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1200988	NM_014208.3(DSPP):c.2374A>G (p.Ser792Gly)	DSPP (S792G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1182336	NM_014208.3(DSPP):c.2424TAGCAGTGA[1] (p.807SDS[3])	DSPP	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1300349	NM_014208.3(DSPP):c.2509_2526del (p.Asn837_Ser842del)	DSPP	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 804764	NM_014208.3(DSPP):c.2504GCA[1] (p.Ser836del)	DSPP (S836del)	Microsatellite (inframe_deletion)	not provided	GBenign
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 1208118	NM_014208.3(DSPP):c.2535C>T (p.Ser845=)	DSPP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1198805	NM_014208.3(DSPP):c.2535C>A (p.Ser845Arg)	DSPP (S845R)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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