CADPS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 3353103	NM_003716.4(CADPS):c.4017C>A (p.Gly1339=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 3347276	NM_003716.4(CADPS):c.4003G>A (p.Gly1335Arg)	CADPS (G1256R +2 more)	Single nucleotide variant (missense variant)	CADPS-related disorder	GUncertain significance
Select item 3262922	NM_003716.4(CADPS):c.3999A>C (p.Glu1333Asp)	CADPS (E1254D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044973	NM_003716.4(CADPS):c.3883-9C>T	CADPS	Single nucleotide variant (intron variant)	CADPS-related disorder	GLikely benign
Select item 3346905	NM_003716.4(CADPS):c.3865C>G (p.Leu1289Val)	CADPS (L1210V +2 more)	Single nucleotide variant (missense variant)	CADPS-related disorder	GUncertain significance
Select item 2457938	NM_003716.4(CADPS):c.3863C>T (p.Thr1288Ile)	CADPS (T1249I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042523	NM_003716.4(CADPS):c.3822G>A (p.Thr1274=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 2636399	NM_003716.4(CADPS):c.3806del (p.Ile1269fs)	CADPS (I1190fs +2 more)	Deletion (frameshift variant)	CADPS-related disorder	GUncertain significance
Select item 2221545	NM_003716.4(CADPS):c.3802G>A (p.Val1268Met)	CADPS (V1229M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060784	NM_003716.4(CADPS):c.3790A>G (p.Ser1264Gly)	CADPS (S1185G +2 more)	Single nucleotide variant (missense variant)	CADPS-related disorder	GLikely benign
Select item 2637366	NM_003716.4(CADPS):c.3780A>G (p.Gln1260=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GUncertain significance
Select item 2461150	NM_003716.4(CADPS):c.3685G>T (p.Val1229Leu)	CADPS (V1190L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376677	NM_003716.4(CADPS):c.3653A>G (p.Lys1218Arg)	CADPS (K1139R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633309	NM_003716.4(CADPS):c.3593G>T (p.Arg1198Ile)	CADPS (R1119I +2 more)	Single nucleotide variant (missense variant)	CADPS-related disorder	GUncertain significance
Select item 2298699	NM_003716.4(CADPS):c.3556G>A (p.Val1186Ile)	CADPS (V1186I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330529	NM_003716.4(CADPS):c.3523A>G (p.Lys1175Glu)	CADPS (K1175E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 547953	NM_003716.4(CADPS):c.3496del (p.Lys1165_Ile1166insTer)	CADPS	Deletion (nonsense)	not provided	GUncertain significance
Select item 3051251	NM_003716.4(CADPS):c.3477+7A>G	CADPS	Single nucleotide variant (intron variant)	CADPS-related disorder	GLikely benign
Select item 3031478	NM_003716.4(CADPS):c.3477+2T>G	CADPS	Single nucleotide variant (splice donor variant)	CADPS-related disorder	GUncertain significance
Select item 3136601	NM_003716.4(CADPS):c.3386G>A (p.Arg1129Gln)	CADPS (R1050Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345574	NM_003716.4(CADPS):c.3340G>A (p.Ala1114Thr)	CADPS (A1075T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596939	NM_003716.4(CADPS):c.3170C>T (p.Ala1057Val)	CADPS (A1057V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741593	NM_003716.4(CADPS):c.3144G>A (p.Pro1048=)	CADPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2542346	NM_003716.4(CADPS):c.3137C>T (p.Ser1046Leu)	CADPS (S1046L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055647	NM_003716.4(CADPS):c.3050A>T (p.Asn1017Ile)	CADPS (N1017I)	Single nucleotide variant (missense variant +1 more)	CADPS-related disorder	GLikely benign
Select item 3136600	NM_003716.4(CADPS):c.2876G>C (p.Arg959Pro)	CADPS (R929P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352640	NM_003716.4(CADPS):c.2876G>A (p.Arg959His)	CADPS (R959H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532457	NM_003716.4(CADPS):c.2864A>G (p.Asn955Ser)	CADPS (N925S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051397	NM_003716.4(CADPS):c.2736G>A (p.Ala912=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 746598	NM_003716.4(CADPS):c.2727+6T>C	CADPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2482258	NM_003716.4(CADPS):c.2677C>A (p.Leu893Ile)	CADPS (L910I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375968	NM_003716.4(CADPS):c.2651G>A (p.Arg884His)	CADPS (R884H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333624	NM_003716.4(CADPS):c.2611C>T (p.Arg871Trp)	CADPS (R871W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044609	NM_003716.4(CADPS):c.2546A>G (p.Asn849Ser)	CADPS (N832S +1 more)	Single nucleotide variant (missense variant)	CADPS-related disorder	GBenign
Select item 2270296	NM_003716.4(CADPS):c.2537C>T (p.Ala846Val)	CADPS (A846V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330909	NM_003716.4(CADPS):c.2441T>G (p.Leu814Arg)	CADPS (L797R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034920	NM_003716.4(CADPS):c.2220T>C (p.Asn740=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 3356447	NM_003716.4(CADPS):c.2055A>G (p.Val685=)	CADPS	Single nucleotide variant (synonymous variant +1 more)	CADPS-related disorder	GLikely benign
Select item 2397929	NM_003716.4(CADPS):c.2049G>C (p.Glu683Asp)	CADPS (E683D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136598	NM_003716.4(CADPS):c.2024A>C (p.Asn675Thr)	CADPS (N675T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036175	NM_003716.4(CADPS):c.1968C>T (p.Tyr656=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 2233464	NM_003716.4(CADPS):c.1949C>T (p.Ala650Val)	CADPS (A650V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331594	NM_003716.4(CADPS):c.1918G>A (p.Ala640Thr)	CADPS (A640T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252729	NM_003716.4(CADPS):c.1894C>G (p.Pro632Ala)	CADPS (P632A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034614	NM_003716.4(CADPS):c.1754-6T>C	CADPS	Single nucleotide variant (intron variant)	CADPS-related disorder	GLikely benign
Select item 746599	NM_003716.4(CADPS):c.1737C>T (p.Tyr579=)	CADPS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2634756	NM_003716.4(CADPS):c.1691C>T (p.Ala564Val)	CADPS (A564V)	Single nucleotide variant (missense variant)	CADPS-related disorder	GUncertain significance
Select item 3262927	NM_003716.4(CADPS):c.1633G>A (p.Val545Ile)	CADPS (V545I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616344	NM_003716.4(CADPS):c.1594G>A (p.Gly532Ser)	CADPS (G532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483875	NM_003716.4(CADPS):c.1583T>C (p.Leu528Ser)	CADPS (L528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785055	NM_003716.4(CADPS):c.1577+6T>C	CADPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2554866	NM_003716.4(CADPS):c.1457C>T (p.Pro486Leu)	CADPS (P486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050248	NM_003716.4(CADPS):c.1438-10T>C	CADPS	Single nucleotide variant (intron variant)	CADPS-related disorder	GLikely benign
Select item 3035338	NM_003716.4(CADPS):c.1335C>T (p.Thr445=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 3136596	NM_003716.4(CADPS):c.1255G>A (p.Val419Ile)	CADPS (V419I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136595	NM_003716.4(CADPS):c.1183G>A (p.Val395Met)	CADPS (V395M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043799	NM_003716.4(CADPS):c.1182C>T (p.Val394=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 3053529	NM_003716.4(CADPS):c.1146C>T (p.Gly382=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GBenign
Select item 2322894	NM_003716.4(CADPS):c.1119C>A (p.Ser373Arg)	CADPS (S373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262926	NM_003716.4(CADPS):c.1114C>T (p.Arg372Cys)	CADPS (R372C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136594	NM_003716.4(CADPS):c.1073C>T (p.Pro358Leu)	CADPS (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136605	NM_003716.4(CADPS):c.949A>G (p.Met317Val)	CADPS (M317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136604	NM_003716.4(CADPS):c.941G>A (p.Arg314His)	CADPS (R314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051233	NM_003716.4(CADPS):c.858C>T (p.Phe286=)	CADPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361454	NM_003716.4(CADPS):c.855G>T (p.Lys285Asn)	CADPS (K285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262921	NM_003716.4(CADPS):c.825G>T (p.Glu275Asp)	CADPS (E275D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262925	NM_003716.4(CADPS):c.787G>A (p.Ala263Thr)	CADPS (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040864	NM_003716.4(CADPS):c.786A>C (p.Ala262=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 2339357	NM_003716.4(CADPS):c.767C>T (p.Ala256Val)	CADPS (A256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040335	NM_003716.4(CADPS):c.684C>T (p.Leu228=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 2616590	NM_003716.4(CADPS):c.679G>A (p.Gly227Ser)	CADPS (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262919	NM_003716.4(CADPS):c.662G>C (p.Ser221Thr)	CADPS (S221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045959	NM_003716.4(CADPS):c.615C>T (p.Asn205=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 780383	NM_003716.4(CADPS):c.609C>T (p.Ser203=)	CADPS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3040460	NM_003716.4(CADPS):c.570C>T (p.Ser190=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 2653936	NM_003716.4(CADPS):c.534C>T (p.Asn178=)	CADPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303065	NM_003716.4(CADPS):c.494A>G (p.Asn165Ser)	CADPS (N165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262920	NM_003716.4(CADPS):c.493A>G (p.Asn165Asp)	CADPS (N165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161849	NM_003716.4(CADPS):c.484G>A (p.Ala162Thr)	CADPS (A162T)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3262918	NM_003716.4(CADPS):c.476G>A (p.Arg159Gln)	CADPS (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136602	NM_003716.4(CADPS):c.421A>C (p.Met141Leu)	CADPS (M141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352491	NM_003716.4(CADPS):c.387C>A (p.Ile129=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 3034959	NM_003716.4(CADPS):c.351G>A (p.Lys117=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 3262923	NM_003716.4(CADPS):c.308A>C (p.Glu103Ala)	CADPS (E103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045953	NM_003716.4(CADPS):c.258C>T (p.Gly86=)	CADPS	Single nucleotide variant (synonymous variant)	CADPS-related disorder	GLikely benign
Select item 3136599	NM_003716.4(CADPS):c.230G>A (p.Gly77Glu)	CADPS (G77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786012	NM_003716.4(CADPS):c.207G>A (p.Ala69=)	CADPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615122	NM_003716.4(CADPS):c.199A>C (p.Ser67Arg)	CADPS (S67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280474	NM_003716.4(CADPS):c.196G>A (p.Gly66Ser)	CADPS (G66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510556	NM_003716.4(CADPS):c.149G>A (p.Gly50Asp)	CADPS (G50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393702	NM_003716.4(CADPS):c.143T>G (p.Leu48Arg)	CADPS (L48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045425	NM_003716.4(CADPS):c.140G>C (p.Gly47Ala)	CADPS (G47A)	Single nucleotide variant (missense variant)	CADPS-related disorder	GLikely benign
Select item 2544264	NM_003716.4(CADPS):c.127G>A (p.Ala43Thr)	CADPS (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226805	NM_003716.4(CADPS):c.124T>G (p.Ser42Ala)	CADPS (S42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136603	NM_003716.4(CADPS):c.88G>A (p.Gly30Ser)	CADPS (G30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535380	NM_003716.4(CADPS):c.83C>A (p.Pro28Gln)	CADPS (P28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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