80152[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 2289832	NM_025082.4(CENPT):c.1652C>T (p.Ala551Val)	CENPT (A551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742609	NM_025082.4(CENPT):c.1570C>T (p.Leu524=)	CENPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362770	NM_025082.4(CENPT):c.1558C>G (p.Arg520Gly)	CENPT (R520G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237192	NM_025082.4(CENPT):c.1503T>G (p.Phe501Leu)	CENPT (F501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617595	NM_025082.4(CENPT):c.1478A>T (p.His493Leu)	CENPT (H493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142430	NM_025082.4(CENPT):c.1436C>T (p.Ala479Val)	CENPT (A479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478857	NM_025082.4(CENPT):c.1367A>T (p.His456Leu)	CENPT (H456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142429	NM_025082.4(CENPT):c.1340C>A (p.Thr447Asn)	CENPT (T447N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569997	NM_025082.4(CENPT):c.1333C>T (p.Arg445Trp)	CENPT (R445W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043796	NM_025082.4(CENPT):c.1321C>G (p.Pro441Ala)	CENPT (P441A)	Single nucleotide variant (missense variant)	CENPT-related disorder	GBenign
Select item 2374324	NM_025082.4(CENPT):c.1276G>A (p.Ala426Thr)	CENPT (A426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042984	NM_025082.4(CENPT):c.1265C>T (p.Ala422Val)	CENPT (A422V)	Single nucleotide variant (missense variant)	CENPT-related disorder	GLikely benign
Select item 3142428	NM_025082.4(CENPT):c.1199C>T (p.Ser400Leu)	CENPT (S400L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1209720	NM_025082.4(CENPT):c.1187-32A>G	CENPT	Single nucleotide variant (intron variant)	Short stature and microcephaly with genital anomalies	GBenign
Select item 800555	NM_025082.4(CENPT):c.1186+1G>A	CENPT	Single nucleotide variant (splice donor variant)	Short stature and microcephaly with genital anomalies	GPathogenic
Select item 2372739	NM_025082.4(CENPT):c.1159G>A (p.Gly387Arg)	CENPT (G387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513863	NM_025082.4(CENPT):c.1115G>T (p.Gly372Val)	CENPT (G372V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547420	NM_025082.4(CENPT):c.998C>G (p.Ala333Gly)	CENPT (A333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547419	NM_025082.4(CENPT):c.997G>A (p.Ala333Thr)	CENPT (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142435	NM_025082.4(CENPT):c.986G>T (p.Gly329Val)	CENPT (G329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219198	NM_025082.4(CENPT):c.820G>A (p.Gly274Ser)	CENPT (G274S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3044315	NM_025082.4(CENPT):c.819C>T (p.Ala273=)	CENPT	Single nucleotide variant (synonymous variant)	CENPT-related disorder	GLikely benign
Select item 2553820	NM_025082.4(CENPT):c.805G>A (p.Ala269Thr)	CENPT (A269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223178	NM_025082.4(CENPT):c.763T>C (p.Tyr255His)	CENPT (Y255H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3042973	NM_025082.4(CENPT):c.759C>T (p.Asn253=)	CENPT	Single nucleotide variant (synonymous variant)	CENPT-related disorder	GLikely benign
Select item 3050166	NM_025082.4(CENPT):c.707T>C (p.Ile236Thr)	CENPT (I236T)	Single nucleotide variant (missense variant)	CENPT-related disorder	GLikely benign
Select item 1209721	NM_025082.4(CENPT):c.703+46C>T	CENPT	Single nucleotide variant (intron variant)	Short stature and microcephaly with genital anomalies	GBenign
Select item 2376901	NM_025082.4(CENPT):c.644G>A (p.Arg215Gln)	CENPT (R215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142434	NM_025082.4(CENPT):c.640C>T (p.Arg214Cys)	CENPT (R214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730062	NM_025082.4(CENPT):c.540T>C (p.Ala180=)	CENPT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3030781	NM_025082.4(CENPT):c.524-5G>C	CENPT	Single nucleotide variant (intron variant)	CENPT-related disorder	GLikely benign
Select item 2475890	NM_025082.4(CENPT):c.455G>C (p.Arg152Thr)	CENPT (R152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142433	NM_025082.4(CENPT):c.419C>G (p.Pro140Arg)	CENPT (P140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208043	NM_025082.4(CENPT):c.407A>C (p.Glu136Ala)	CENPT (E136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142432	NM_025082.4(CENPT):c.394C>G (p.Leu132Val)	CENPT (L132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053517	NM_025082.4(CENPT):c.387-10A>G	CENPT	Single nucleotide variant (intron variant)	CENPT-related disorder	GLikely benign
Select item 2646639	NM_025082.4(CENPT):c.386+7A>G	CENPT	Single nucleotide variant (intron variant)	CENPT-related disorder +1 more	GLikely benign
Select item 3053144	NM_025082.4(CENPT):c.377G>A (p.Ser126Asn)	CENPT (S126N)	Single nucleotide variant (missense variant)	CENPT-related disorder	GLikely benign
Select item 2283274	NM_025082.4(CENPT):c.365G>A (p.Arg122Lys)	CENPT (R122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037784	NM_025082.4(CENPT):c.364A>G (p.Arg122Gly)	CENPT (R122G)	Single nucleotide variant (missense variant)	CENPT-related disorder	GBenign
Select item 3049979	NM_025082.4(CENPT):c.361T>G (p.Ser121Ala)	CENPT (S121A)	Single nucleotide variant (missense variant)	CENPT-related disorder	GBenign
Select item 3142431	NM_025082.4(CENPT):c.293C>G (p.Pro98Arg)	CENPT (P98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034907	NM_025082.4(CENPT):c.264G>A (p.Thr88=)	CENPT	Single nucleotide variant (synonymous variant)	CENPT-related disorder	GLikely benign
Select item 2469395	NM_025082.4(CENPT):c.259C>T (p.Arg87Trp)	CENPT (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2555480	NM_025082.4(CENPT):c.233G>T (p.Ser78Ile)	CENPT (S78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039831	NM_025082.4(CENPT):c.202-5G>A	CENPT	Single nucleotide variant (intron variant)	CENPT-related disorder	GBenign
Select item 2412259	NM_025082.4(CENPT):c.170C>G (p.Thr57Arg)	CENPT (T57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269458	NM_025082.4(CENPT):c.164C>G (p.Thr55Arg)	CENPT (T55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316618	NM_025082.4(CENPT):c.121G>A (p.Ala41Thr)	CENPT (A41T)	Single nucleotide variant (missense variant)	not specified	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 3046095	NM_025082.4(CENPT):c.111-9T>A	CENPT	Single nucleotide variant (intron variant)	CENPT-related disorder	GBenign
Select item 2567756	NM_025082.4(CENPT):c.83C>T (p.Pro28Leu)	CENPT (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046206	NM_025082.4(CENPT):c.67G>A (p.Ala23Thr)	CENPT (A23T)	Single nucleotide variant (missense variant)	CENPT-related disorder	GBenign
Select item 1209722	NM_025082.4(CENPT):c.24C>A (p.Ser8Arg)	CENPT (S8R)	Single nucleotide variant (missense variant)	CENPT-related disorder +1 more	GBenign
Select item 2482740	NM_025082.4(CENPT):c.23G>A (p.Ser8Asn)	CENPT (S8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048500	NM_025082.4(CENPT):c.-6G>T	CENPT	Single nucleotide variant (5 prime UTR variant)	CENPT-related disorder	GBenign
Select item 1261698	NM_025082.4(CENPT):c.-492+5283C>T	CENPT, THAP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234484	NM_020457.3(THAP11):c.-105G>A	CENPT, LOC130059242 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 1544891	NM_020457.3(THAP11):c.18C>T (p.Cys6=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	THAP11-related disorder +1 more	GBenign/Likely benign
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 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 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 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 1454662	NM_020457.3(THAP11):c.219G>A (p.Thr73=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2046828	NM_020457.3(THAP11):c.240C>T (p.Phe80=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 393304	NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)	CENPT, THAP11 (F80L)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblX	GLikely pathogenic
Select item 1441894	NM_020457.3(THAP11):c.257A>G (p.Asn86Ser)	CENPT, THAP11 (N86S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2110433	NM_020457.3(THAP11):c.321_335dup (p.Gln132_Ser133insGlnGlnGlnGlnGln)	CENPT, THAP11	Duplication (inframe_insertion +1 more)	not provided	GLikely 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 2866512	NM_020457.3(THAP11):c.312GCAGCAGCAACAGCAGCA[1] (p.Gln127_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
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 2761174	NM_020457.3(THAP11):c.321_332del (p.Gln129_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
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 2171698	NM_020457.3(THAP11):c.321ACAGCAGCAGCAGCAGCAACAGCAGCA[3] (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
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 2200643	NM_020457.3(THAP11):c.321_329del (p.Gln130_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 1421063	NM_020457.3(THAP11):c.321ACAGCAGCAGCAGCAGCAACAGCAGCA[1] (p.Gln124_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
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 2720443	NM_020457.3(THAP11):c.321_323del (p.Gln132del)	CENPT, THAP11 (Q132del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
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 2172347	NM_020457.3(THAP11):c.347_348insGCAGCAGCAGCAGCAGCAACAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGln)	CENPT, THAP11	Microsatellite (intron variant +1 more)	not provided	GLikely benign
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 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 1952408	NM_020457.3(THAP11):c.324GCA[1] (p.Gln129_Gln132del)	CENPT, THAP11	Microsatellite (intron variant +1 more)	not provided	GLikely benign

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