ClinVar for Gene (Select 80152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 3053517	NM_025082.4(CENPT):c.387-10A>G	CENPT	Single nucleotide variant (intron variant)	CENPT-related condition	GLikely benign
Select item 3053144	NM_025082.4(CENPT):c.377G>A (p.Ser126Asn)	CENPT (S126N)	Single nucleotide variant (missense variant)	CENPT-related condition	GLikely benign
Select item 3050166	NM_025082.4(CENPT):c.707T>C (p.Ile236Thr)	CENPT (I236T)	Single nucleotide variant (missense variant)	CENPT-related condition	GLikely benign
Select item 3049979	NM_025082.4(CENPT):c.361T>G (p.Ser121Ala)	CENPT (S121A)	Single nucleotide variant (missense variant)	CENPT-related condition	GBenign
Select item 3048500	NM_025082.4(CENPT):c.-6G>T	CENPT	Single nucleotide variant (5 prime UTR variant)	CENPT-related condition	GBenign
Select item 3046206	NM_025082.4(CENPT):c.67G>A (p.Ala23Thr)	CENPT (A23T)	Single nucleotide variant (missense variant)	CENPT-related condition	GBenign
Select item 3046095	NM_025082.4(CENPT):c.111-9T>A	CENPT	Single nucleotide variant (intron variant)	CENPT-related condition	GBenign
Select item 3044315	NM_025082.4(CENPT):c.819C>T (p.Ala273=)	CENPT	Single nucleotide variant (synonymous variant)	CENPT-related condition	GLikely benign
Select item 3043796	NM_025082.4(CENPT):c.1321C>G (p.Pro441Ala)	CENPT (P441A)	Single nucleotide variant (missense variant)	CENPT-related condition	GBenign
Select item 3042984	NM_025082.4(CENPT):c.1265C>T (p.Ala422Val)	CENPT (A422V)	Single nucleotide variant (missense variant)	CENPT-related condition	GLikely benign
Select item 3042973	NM_025082.4(CENPT):c.759C>T (p.Asn253=)	CENPT	Single nucleotide variant (synonymous variant)	CENPT-related condition	GLikely benign
Select item 3039831	NM_025082.4(CENPT):c.202-5G>A	CENPT	Single nucleotide variant (intron variant)	CENPT-related condition	GBenign
Select item 3037784	NM_025082.4(CENPT):c.364A>G (p.Arg122Gly)	CENPT (R122G)	Single nucleotide variant (missense variant)	CENPT-related condition	GBenign
Select item 3034907	NM_025082.4(CENPT):c.264G>A (p.Thr88=)	CENPT	Single nucleotide variant (synonymous variant)	CENPT-related condition	GLikely benign
Select item 3030781	NM_025082.4(CENPT):c.524-5G>C	CENPT	Single nucleotide variant (intron variant)	CENPT-related condition	GLikely benign
Select item 3015514	NM_020457.3(THAP11):c.351GCA[8] (p.Gln132_Ser133insGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2990874	NM_020457.3(THAP11):c.392_393insACAGCAGCA (p.Gln132_Ser133insGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2958600	NM_020457.3(THAP11):c.375G>A (p.Gln125=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2914513	NM_020457.3(THAP11):c.386_387insACAGCAGCAGCAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2905659	NM_020457.3(THAP11):c.364_396del (p.Gln122_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2899059	NM_020457.3(THAP11):c.392_393insACAGCAGCAGCAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2898349	NM_020457.3(THAP11):c.225C>G (p.Arg75=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894730	NM_020457.3(THAP11):c.690G>C (p.Val230=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893792	NM_020457.3(THAP11):c.81A>C (p.Pro27=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2880723	NM_020457.3(THAP11):c.383_384insACAGCAGCA (p.Gln132_Ser133insGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2866657	NM_020457.3(THAP11):c.366_368del (p.Gln132del)	CENPT, THAP11 (Q132del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2866512	NM_020457.3(THAP11):c.312GCAGCAGCAACAGCAGCA[1] (p.Gln127_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2865080	NM_020457.3(THAP11):c.348_353del (p.Gln131_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2821261	NM_020457.3(THAP11):c.588T>C (p.Phe196=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2802115	NM_020457.3(THAP11):c.464C>G (p.Ala155Gly)	CENPT, THAP11 (A155G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2761174	NM_020457.3(THAP11):c.321_332del (p.Gln129_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2759984	NM_020457.3(THAP11):c.574G>A (p.Val192Met)	CENPT, THAP11 (V192M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2758935	NM_020457.3(THAP11):c.324GCA[6] (p.Gln132_Ser133insGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2758584	NM_020457.3(THAP11):c.446T>C (p.Leu149Pro)	CENPT, THAP11 (L149P)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2741681	NM_020457.3(THAP11):c.367CAG[15] (p.Gln132_Ser133insGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2734485	NM_020457.3(THAP11):c.374_375insACAGCA (p.Gln132_Ser133insGlnGln)	CENPT, THAP11	Insertion (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2721142	NM_020457.3(THAP11):c.487A>T (p.Thr163Ser)	CENPT, THAP11 (T163S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2720443	NM_020457.3(THAP11):c.321_323del (p.Gln132del)	CENPT, THAP11 (Q132del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2720014	NM_020457.3(THAP11):c.347_348insGCAGCAGCAACAGCAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2715781	NM_020457.3(THAP11):c.339A>G (p.Gln113=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2713203	NM_020457.3(THAP11):c.367CAG[5] (p.Gln128_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	THAP11-related condition +1 more	GLikely benign
Select item 2712262	NM_020457.3(THAP11):c.351GCA[6] (p.Gln132_Ser133insGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2709573	NM_020457.3(THAP11):c.309GCA[1] (p.Gln130_Gln132del)	CENPT, THAP11	Microsatellite (intron variant +1 more)	not provided	GLikely benign
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2672645	NM_025082.4(CENPT):c.116G>A (p.Arg39Gln)	CENPT (R39Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646641	NM_020457.3(THAP11):c.381G>A (p.Gln127=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646640	NM_025082.4(CENPT):c.239A>G (p.His80Arg)	CENPT (H80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646639	NM_025082.4(CENPT):c.386+7A>G	CENPT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2617595	NM_025082.4(CENPT):c.1478A>T (p.His493Leu)	CENPT (H493L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569997	NM_025082.4(CENPT):c.1333C>T (p.Arg445Trp)	CENPT (R445W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567756	NM_025082.4(CENPT):c.83C>T (p.Pro28Leu)	CENPT (P28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555480	NM_025082.4(CENPT):c.233G>T (p.Ser78Ile)	CENPT (S78I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553820	NM_025082.4(CENPT):c.805G>A (p.Ala269Thr)	CENPT (A269T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547420	NM_025082.4(CENPT):c.998C>G (p.Ala333Gly)	CENPT (A333G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547419	NM_025082.4(CENPT):c.997G>A (p.Ala333Thr)	CENPT (A333T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513863	NM_025082.4(CENPT):c.1115G>T (p.Gly372Val)	CENPT (G372V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482740	NM_025082.4(CENPT):c.23G>A (p.Ser8Asn)	CENPT (S8N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478857	NM_025082.4(CENPT):c.1367A>T (p.His456Leu)	CENPT (H456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475890	NM_025082.4(CENPT):c.455G>C (p.Arg152Thr)	CENPT (R152T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469395	NM_025082.4(CENPT):c.259C>T (p.Arg87Trp)	CENPT (R87W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467321	NM_020457.3(THAP11):c.478C>T (p.Leu160Phe)	CENPT, THAP11 (L160F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2412259	NM_025082.4(CENPT):c.170C>G (p.Thr57Arg)	CENPT (T57R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382136	NM_020457.3(THAP11):c.620C>G (p.Ala207Gly)	CENPT, THAP11 (A207G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376901	NM_025082.4(CENPT):c.644G>A (p.Arg215Gln)	CENPT (R215Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374324	NM_025082.4(CENPT):c.1276G>A (p.Ala426Thr)	CENPT (A426T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372739	NM_025082.4(CENPT):c.1159G>A (p.Gly387Arg)	CENPT (G387R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364496	NM_020457.3(THAP11):c.395A>C (p.Gln132Pro)	THAP11, CENPT (Q132P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362770	NM_025082.4(CENPT):c.1558C>G (p.Arg520Gly)	CENPT (R520G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321857	NM_020457.3(THAP11):c.502C>G (p.Gln168Glu)	CENPT, THAP11 (Q168E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2316618	NM_025082.4(CENPT):c.121G>A (p.Ala41Thr)	CENPT (A41T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289832	NM_025082.4(CENPT):c.1652C>T (p.Ala551Val)	CENPT (A551V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283274	NM_025082.4(CENPT):c.365G>A (p.Arg122Lys)	CENPT (R122K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269458	NM_025082.4(CENPT):c.164C>G (p.Thr55Arg)	CENPT (T55R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237192	NM_025082.4(CENPT):c.1503T>G (p.Phe501Leu)	CENPT (F501L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223178	NM_025082.4(CENPT):c.763T>C (p.Tyr255His)	CENPT (Y255H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2219198	NM_025082.4(CENPT):c.820G>A (p.Gly274Ser)	CENPT (G274S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2208043	NM_025082.4(CENPT):c.407A>C (p.Glu136Ala)	CENPT (E136A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200643	NM_020457.3(THAP11):c.321_329del (p.Gln130_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2193874	NM_020457.3(THAP11):c.339ACAGCAGCA[3] (p.Gln132_Ser133insGlnGlnGln)	CENPT, THAP11	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
Select item 2182219	NM_020457.3(THAP11):c.366_374del (p.Gln130_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2178293	NM_020457.3(THAP11):c.333_334insAAGCAACAG (p.Gln111_Gln112insLysGlnGln)	CENPT, THAP11	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2173064	NM_020457.3(THAP11):c.397T>C (p.Ser133Pro)	CENPT, THAP11 (S133P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172347	NM_020457.3(THAP11):c.347_348insGCAGCAGCAGCAGCAGCAACAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (intron variant +1 more)	not provided	GLikely benign
Select item 2171698	NM_020457.3(THAP11):c.321ACAGCAGCAGCAGCAGCAACAGCAGCA[3] (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2170775	NM_020457.3(THAP11):c.394_395delinsTC (p.Gln132Ser)	CENPT, THAP11 (Q132S)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2170345	NM_020457.3(THAP11):c.374_375insACAGCAGCAGCAGCAGCAACAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Insertion (intron variant +1 more)	not provided	GLikely benign
Select item 2161576	NM_020457.3(THAP11):c.366_380del (p.Gln128_Gln132del)	CENPT, THAP11	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 2160628	NM_020457.3(THAP11):c.321_326dup (p.Gln132_Ser133insGlnGln)	CENPT, THAP11	Duplication (intron variant +1 more)	not provided	GLikely benign
Select item 2157122	NM_020457.3(THAP11):c.366_395del (p.Gln123_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2155139	NM_020457.3(THAP11):c.356_357insACAGCA (p.Gln132_Ser133insGlnGln)	CENPT, THAP11	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2115450	NM_020457.3(THAP11):c.398C>T (p.Ser133Phe)	CENPT, THAP11 (S133F)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2114822	NM_020457.3(THAP11):c.347_348insGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2110433	NM_020457.3(THAP11):c.321_335dup (p.Gln132_Ser133insGlnGlnGlnGlnGln)	CENPT, THAP11	Duplication (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2082660	NM_020457.3(THAP11):c.367CAG[19] (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2082417	NM_020457.3(THAP11):c.298G>T (p.Ala100Ser)	CENPT, THAP11 (A100S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2081490	NM_020457.3(THAP11):c.351GCA[3] (p.Gln131_Gln132del)	THAP11, CENPT	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2075484	NM_020457.3(THAP11):c.120G>A (p.Val40=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2070905	NM_020457.3(THAP11):c.359_360insACA (p.Gln132_Ser133insGln)	CENPT, THAP11	Insertion (inframe_insertion +1 more)	not provided	GLikely benign

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