Related gene-specific medical variations for Gene (Select 80152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176879	NM_020457.3(THAP11):c.506C>A (p.Ala169Asp)	CENPT, THAP11 (A169D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176878	NM_020457.3(THAP11):c.413C>T (p.Ser138Phe)	CENPT, THAP11 (S138F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176877	NM_020457.3(THAP11):c.311A>G (p.Gln104Arg)	CENPT, THAP11 (Q104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 disorder +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 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 2467321	NM_020457.3(THAP11):c.478C>T (p.Leu160Phe)	CENPT, THAP11 (L160F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382136	NM_020457.3(THAP11):c.620C>G (p.Ala207Gly)	CENPT, THAP11 (A207G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364496	NM_020457.3(THAP11):c.395A>C (p.Gln132Pro)	CENPT, THAP11 (Q132P)	Single nucleotide variant (missense variant +1 more)	not specified	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 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)	not provided +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
Select item 2068867	NM_020457.3(THAP11):c.351GCA[7] (p.Gln132_Ser133insGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	THAP11-related disorder +1 more	GLikely benign
Select item 2065673	NM_020457.3(THAP11):c.321_329dup (p.Gln132_Ser133insGlnGlnGln)	CENPT, THAP11	Duplication (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2062700	NM_020457.3(THAP11):c.383_384insACAGCAGCAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2062699	NM_020457.3(THAP11):c.357G>A (p.Gln119=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2061004	NM_020457.3(THAP11):c.348ACAGCAGCAGCAGCAGCA[3] (p.Gln132_Ser133insGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2053264	NM_020457.3(THAP11):c.348_377del (p.Gln123_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2049481	NM_020457.3(THAP11):c.348ACAGCAGCAGCAGCAGCA[1] (p.Gln127_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GLikely benign
Select item 2047074	NM_020457.3(THAP11):c.360G>A (p.Gln120=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2047073	NM_020457.3(THAP11):c.348_350del (p.Gln132del)	CENPT, THAP11 (Q132del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2046828	NM_020457.3(THAP11):c.240C>T (p.Phe80=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2041366	NM_020457.3(THAP11):c.921C>T (p.Val307=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989222	NM_020457.3(THAP11):c.415A>G (p.Thr139Ala)	CENPT, THAP11 (T139A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1979282	NM_020457.3(THAP11):c.367CAG[18] (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
Select item 1957942	NM_020457.3(THAP11):c.38A>G (p.Asn13Ser)	CENPT, THAP11 (N13S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1952551	NM_020457.3(THAP11):c.722G>A (p.Gly241Asp)	CENPT, THAP11 (G241D)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1952408	NM_020457.3(THAP11):c.324GCA[1] (p.Gln129_Gln132del)	CENPT, THAP11	Microsatellite (intron variant +1 more)	not provided	GLikely benign
Select item 1940234	NM_020457.3(THAP11):c.395_397del (p.Gln132_Ser133delinsPro)	THAP11, CENPT	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1911529	NM_020457.3(THAP11):c.448G>C (p.Val150Leu)	THAP11, CENPT (V150L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910278	NM_020457.3(THAP11):c.348A>C (p.Gln116His)	CENPT, THAP11 (Q116H)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1897215	NM_020457.3(THAP11):c.339_359dup (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Duplication (intron variant +1 more)	not provided	GLikely benign
Select item 1693662	NM_020457.3(THAP11):c.509C>A (p.Pro170Gln)	CENPT, THAP11 (P170Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1653316	NM_020457.3(THAP11):c.366A>G (p.Gln122=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1651592	NM_020457.3(THAP11):c.348A>G (p.Gln116=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	THAP11-related disorder +1 more	GBenign
Select item 1649282	NM_020457.3(THAP11):c.426T>C (p.Thr142=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1645869	NM_020457.3(THAP11):c.237C>T (p.Ile79=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1645486	NM_020457.3(THAP11):c.367CAG[12] (p.Gln131_Gln132dup)	THAP11, CENPT	Microsatellite (inframe_insertion +1 more)	THAP11-related disorder +1 more	GBenign/Likely benign
Select item 1635911	NM_020457.3(THAP11):c.312GCAGCAGCAACAGCAGCA[3] (p.Gln127_Gln132dup)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 1630809	NM_020457.3(THAP11):c.573A>G (p.Thr191=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1627825	NM_020457.3(THAP11):c.9C>G (p.Gly3=)	THAP11, CENPT	Single nucleotide variant (synonymous variant +1 more)	THAP11-related disorder +1 more	GBenign
Select item 1627226	NM_020457.3(THAP11):c.392_393insACAGCAGCAGCAGCAGCAGCAGCA (p.Gln125_Gln132dup)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 1625453	NM_020457.3(THAP11):c.321A>G (p.Gln107=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	THAP11-related disorder +1 more	GBenign
Select item 1624627	NM_020457.3(THAP11):c.367CAG[11] (p.Gln132dup)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	THAP11-related disorder +1 more	GBenign/Likely benign
Select item 1617360	NM_020457.3(THAP11):c.135C>T (p.Val45=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1611213	NM_020457.3(THAP11):c.367CAG[4] (p.Gln127_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 1606856	NM_020457.3(THAP11):c.369G>A (p.Gln123=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1605817	NM_020457.3(THAP11):c.441G>A (p.Pro147=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1599348	NM_020457.3(THAP11):c.477C>T (p.Thr159=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1598988	NM_020457.3(THAP11):c.366_392dup (p.Gln124_Gln132dup)	CENPT, THAP11	Duplication (inframe_insertion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1597606	NM_020457.3(THAP11):c.339_362del (p.Gln125_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 1593600	NM_020457.3(THAP11):c.392_393insACAGCAGCAGCAGCAGCAGCA (p.Gln126_Gln132dup)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 1587439	NM_020457.3(THAP11):c.367CAG[7] (p.Gln130_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 1582497	NM_020457.3(THAP11):c.366_389del (p.Gln125_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	THAP11-related disorder +1 more	GBenign/Likely benign
Select item 1582213	NM_020457.3(THAP11):c.392_393insACAGCAGCAGCA (p.Gln129_Gln132dup)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign

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