ANAPC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 152806	GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3	ACOXL, ACOXL-AS1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144476	GRCh38/hg38 2q13-14.1(chr2:110611255-112308202)x1	ACOXL, ACOXL-AS1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 154032	GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 59323	GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3	ACOXL, ACOXL-AS1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57565	GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1	ACOXL, ACOXL-AS1 +45 more	Copy number loss	See cases	GUncertain significance
Select item 57564	GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 223093	NC_000002.12:g.(?_110649261)_(112345017_?)del	ACOXL, ACOXL-AS1 +50 more	Deletion	not provided	GLikely pathogenic
Select item 148494	GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 148389	GRCh38/hg38 2q13-14.1(chr2:110649261-112379067)x3	ACOXL, ACOXL-AS1 +51 more	Copy number gain	See cases	GLikely benign
Select item 59324	GRCh38/hg38 2q13-14.1(chr2:110684353-112308343)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 161046	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 160844	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 151397	GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 32080	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 154416	GRCh38/hg38 2q13-14.1(chr2:110684598-112308164)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 149066	GRCh38/hg38 2q13(chr2:111289044-111834569)x1	ANAPC1, LOC105373559 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1188976	NM_022662.4(ANAPC1):c.*2C>T	ANAPC1	Single nucleotide variant (3 prime UTR variant)	Rothmund-Thomson syndrome type 1	GBenign
Select item 2398366	NM_022662.4(ANAPC1):c.5668G>A (p.Val1890Ile)	ANAPC1 (V1890I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270133	NM_022662.4(ANAPC1):c.5593G>A (p.Asp1865Asn)	ANAPC1 (D1865N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205527	NM_022662.4(ANAPC1):c.5587G>A (p.Gly1863Arg)	ANAPC1 (G1863R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767814	NM_022662.4(ANAPC1):c.5373C>A (p.Ile1791=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2542403	NM_022662.4(ANAPC1):c.5358G>A (p.Met1786Ile)	ANAPC1 (M1786I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117705	NM_022662.4(ANAPC1):c.5324T>C (p.Leu1775Pro)	ANAPC1 (L1775P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548587	NM_022662.4(ANAPC1):c.5201A>G (p.Lys1734Arg)	ANAPC1 (K1734R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600543	NM_022662.4(ANAPC1):c.5115G>C (p.Gln1705His)	ANAPC1 (Q1705H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356589	NM_022662.4(ANAPC1):c.5083G>C (p.Gly1695Arg)	ANAPC1 (G1695R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616766	NM_022662.4(ANAPC1):c.4970T>C (p.Leu1657Pro)	ANAPC1 (L1657P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533181	NM_022662.4(ANAPC1):c.4960C>G (p.Pro1654Ala)	ANAPC1 (P1654A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117678	NM_022662.4(ANAPC1):c.4933G>A (p.Glu1645Lys)	ANAPC1 (E1645K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510062	NM_022662.4(ANAPC1):c.4927T>C (p.Trp1643Arg)	ANAPC1 (W1643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117671	NM_022662.4(ANAPC1):c.4883C>T (p.Thr1628Met)	ANAPC1 (T1628M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 694499	NM_022662.4(ANAPC1):c.4882_4883del (p.Thr1628fs)	ANAPC1 (T1628fs)	Microsatellite (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3117663	NM_022662.4(ANAPC1):c.4829A>G (p.Tyr1610Cys)	ANAPC1 (Y1610C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349200	NM_022662.4(ANAPC1):c.4802A>G (p.Tyr1601Cys)	ANAPC1 (Y1601C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307327	NM_022662.4(ANAPC1):c.4783C>G (p.His1595Asp)	ANAPC1 (H1595D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203822	NM_022662.4(ANAPC1):c.4735T>C (p.Ser1579Pro)	ANAPC1 (S1579P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533698	NM_022662.4(ANAPC1):c.4732A>C (p.Asn1578His)	ANAPC1 (N1578H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220038	NM_022662.4(ANAPC1):c.4603G>A (p.Val1535Ile)	ANAPC1 (V1535I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537906	NM_022662.4(ANAPC1):c.4550G>T (p.Ser1517Ile)	ANAPC1 (S1517I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117640	NM_022662.4(ANAPC1):c.4549A>G (p.Ser1517Gly)	ANAPC1 (S1517G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750474	NM_022662.4(ANAPC1):c.4519-9A>C	ANAPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 692106	NM_022662.4(ANAPC1):c.4373+1G>A	ANAPC1	Single nucleotide variant (splice donor variant)	Rothmund-Thomson syndrome type 1	GPathogenic
Select item 769572	NM_022662.4(ANAPC1):c.4341G>A (p.Pro1447=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 151400	GRCh38/hg38 2q13(chr2:111800385-111834510)x3	ANAPC1	Copy number gain	See cases	GLikely benign
Select item 2226335	NM_022662.4(ANAPC1):c.4222A>G (p.Thr1408Ala)	ANAPC1 (T1408A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117634	NM_022662.4(ANAPC1):c.4216C>T (p.Leu1406Phe)	ANAPC1 (L1406F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117630	NM_022662.4(ANAPC1):c.4178T>C (p.Met1393Thr)	ANAPC1 (M1393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117628	NM_022662.4(ANAPC1):c.3959A>G (p.Asn1320Ser)	ANAPC1 (N1320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494314	NM_022662.4(ANAPC1):c.3949T>A (p.Ser1317Thr)	ANAPC1 (S1317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391258	NM_022662.4(ANAPC1):c.3889G>A (p.Ala1297Thr)	ANAPC1 (A1297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617336	NM_022662.4(ANAPC1):c.3827A>G (p.Glu1276Gly)	ANAPC1 (E1276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025570	NM_022662.4(ANAPC1):c.3822G>C (p.Leu1274Phe)	ANAPC1 (L1274F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258124	NM_022662.4(ANAPC1):c.3817C>G (p.Leu1273Val)	ANAPC1 (L1273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117618	NM_022662.4(ANAPC1):c.3671T>C (p.Ile1224Thr)	ANAPC1 (I1224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520381	NM_022662.4(ANAPC1):c.3670A>G (p.Ile1224Val)	ANAPC1 (I1224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117610	NM_022662.4(ANAPC1):c.3626T>C (p.Leu1209Pro)	ANAPC1 (L1209P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117607	NM_022662.4(ANAPC1):c.3189C>G (p.Ile1063Met)	ANAPC1 (I1063M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270506	NM_022662.4(ANAPC1):c.3181G>A (p.Glu1061Lys)	ANAPC1 (E1061K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791467	NM_022662.4(ANAPC1):c.3162C>T (p.Tyr1054=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363324	NM_022662.4(ANAPC1):c.3139G>C (p.Val1047Leu)	ANAPC1 (V1047L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790439	NM_022662.4(ANAPC1):c.3100G>A (p.Val1034Met)	ANAPC1 (V1034M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2480570	NM_022662.4(ANAPC1):c.3077T>C (p.Leu1026Ser)	ANAPC1 (L1026S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117597	NM_022662.4(ANAPC1):c.3013T>C (p.Ser1005Pro)	ANAPC1 (S1005P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117596	NM_022662.4(ANAPC1):c.2992G>A (p.Val998Met)	ANAPC1 (V998M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613275	NM_022662.4(ANAPC1):c.2965G>A (p.Glu989Lys)	ANAPC1 (E989K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286214	NM_022662.4(ANAPC1):c.2845T>C (p.Phe949Leu)	ANAPC1 (F949L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311495	NM_022662.4(ANAPC1):c.2839C>G (p.Leu947Val)	ANAPC1 (L947V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117587	NM_022662.4(ANAPC1):c.2819C>T (p.Thr940Ile)	ANAPC1 (T940I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387485	NM_022662.4(ANAPC1):c.2764T>A (p.Ser922Thr)	ANAPC1 (S922T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789704	NM_022662.4(ANAPC1):c.2742-7C>T	ANAPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2651266	NM_022662.4(ANAPC1):c.2736A>G (p.Glu912=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694496	NM_022662.4(ANAPC1):c.[2705-198C>T;4880_4881AC[1]]	ANAPC1 (T1628fs)	Single nucleotide variant (intron variant +1 more)	Rothmund-Thomson syndrome type 1	GLikely pathogenic
Select item 694459	NM_022662.4(ANAPC1):c.[2705-198C>T;4373+1G>A]	ANAPC1	Single nucleotide variant (intron variant +1 more)	Rothmund-Thomson syndrome type 1	GLikely pathogenic
Select item 694458	NM_022662.4(ANAPC1):c.[1778dup;2705-198C>T]	ANAPC1 (N593fs)	Single nucleotide variant (intron variant +1 more)	Rothmund-Thomson syndrome type 1	GLikely pathogenic
Select item 692104	NM_022662.4(ANAPC1):c.2705-198C>T	ANAPC1	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome type 1	GPathogenic/Likely pathogenic
Select item 2551080	NM_022662.4(ANAPC1):c.2690C>G (p.Thr897Ser)	ANAPC1 (T897S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380585	NM_022662.4(ANAPC1):c.2668G>A (p.Asp890Asn)	ANAPC1 (D890N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117575	NM_022662.4(ANAPC1):c.2657G>A (p.Ser886Asn)	ANAPC1 (S886N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609007	NM_022662.4(ANAPC1):c.2584T>C (p.Tyr862His)	ANAPC1 (Y862H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025299	NM_022662.4(ANAPC1):c.2566G>A (p.Gly856Arg)	ANAPC1 (G856R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778261	NM_022662.4(ANAPC1):c.2513C>T (p.Thr838Met)	ANAPC1 (T838M)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 1 +1 more	GBenign
Select item 3117571	NM_022662.4(ANAPC1):c.2501C>A (p.Pro834Gln)	ANAPC1 (P834Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117569	NM_022662.4(ANAPC1):c.2486G>A (p.Gly829Glu)	ANAPC1 (G829E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781806	NM_022662.4(ANAPC1):c.2448T>C (p.Thr816=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359310	NM_022662.4(ANAPC1):c.2435C>T (p.Thr812Met)	ANAPC1 (T812M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380120	NM_022662.4(ANAPC1):c.2434A>G (p.Thr812Ala)	ANAPC1 (T812A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791866	NM_022662.4(ANAPC1):c.2370C>T (p.Leu790=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784991	NM_022662.4(ANAPC1):c.2316G>A (p.Glu772=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2215670	NM_022662.4(ANAPC1):c.2287T>A (p.Phe763Ile)	ANAPC1 (F763I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117564	NM_022662.4(ANAPC1):c.2261T>G (p.Leu754Arg)	ANAPC1 (L754R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319559	NM_022662.4(ANAPC1):c.2180C>G (p.Ser727Cys)	ANAPC1 (S727C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400149	NM_022662.4(ANAPC1):c.2149C>G (p.Gln717Glu)	ANAPC1 (Q717E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117557	NM_022662.4(ANAPC1):c.2146C>T (p.His716Tyr)	ANAPC1 (H716Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323418	NM_022662.4(ANAPC1):c.2124A>C (p.Glu708Asp)	ANAPC1 (E708D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117554	NM_022662.4(ANAPC1):c.2078C>T (p.Pro693Leu)	ANAPC1 (P693L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026734	NM_022662.4(ANAPC1):c.2020C>T (p.Arg674Cys)	ANAPC1 (R674C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3117549	NM_022662.4(ANAPC1):c.2009A>C (p.Tyr670Ser)	ANAPC1 (Y670S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408543	NM_022662.4(ANAPC1):c.2002A>G (p.Met668Val)	ANAPC1 (M668V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606218	NM_022662.4(ANAPC1):c.1999A>G (p.Met667Val)	ANAPC1 (M667V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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