ClinVar for Gene (Select 64682) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148895	GRCh37/hg19 2q13(chr2:111397950-113111856)x1	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 3117716	NM_022662.4(ANAPC1):c.941C>A (p.Pro314His)	ANAPC1 (P314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117713	NM_022662.4(ANAPC1):c.86A>G (p.Lys29Arg)	ANAPC1 (K29R)	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 3117678	NM_022662.4(ANAPC1):c.4933G>A (p.Glu1645Lys)	ANAPC1 (E1645K)	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 3117663	NM_022662.4(ANAPC1):c.4829A>G (p.Tyr1610Cys)	ANAPC1 (Y1610C)	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 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 3117618	NM_022662.4(ANAPC1):c.3671T>C (p.Ile1224Thr)	ANAPC1 (I1224T)	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 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 3117587	NM_022662.4(ANAPC1):c.2819C>T (p.Thr940Ile)	ANAPC1 (T940I)	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 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 3117564	NM_022662.4(ANAPC1):c.2261T>G (p.Leu754Arg)	ANAPC1 (L754R)	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 3117554	NM_022662.4(ANAPC1):c.2078C>T (p.Pro693Leu)	ANAPC1 (P693L)	Single nucleotide variant (missense variant)	not specified	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 3117543	NM_022662.4(ANAPC1):c.1927A>G (p.Asn643Asp)	ANAPC1 (N643D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117539	NM_022662.4(ANAPC1):c.1859C>T (p.Thr620Met)	ANAPC1 (T620M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117532	NM_022662.4(ANAPC1):c.1547C>A (p.Ala516Asp)	ANAPC1 (A516D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062640	GRCh37/hg19 2q13(chr2:112591111-112866746)x1	ANAPC1, MERTK +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
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 3025570	NM_022662.4(ANAPC1):c.3822G>C (p.Leu1274Phe)	ANAPC1 (L1274F)	Single nucleotide variant (missense variant)	not provided	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 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2652124	GRCh37/hg19 2q13(chr2:110873265-113090065)x1	ACOXL, ANAPC1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2651269	NM_022662.4(ANAPC1):c.1143T>C (p.His381=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651268	NM_022662.4(ANAPC1):c.1225A>G (p.Ile409Val)	ANAPC1 (I409V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651267	NM_022662.4(ANAPC1):c.1902A>C (p.Ala634=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651266	NM_022662.4(ANAPC1):c.2736A>G (p.Glu912=)	ANAPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2616766	NM_022662.4(ANAPC1):c.4970T>C (p.Leu1657Pro)	ANAPC1 (L1657P)	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 2609007	NM_022662.4(ANAPC1):c.2584T>C (p.Tyr862His)	ANAPC1 (Y862H)	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
Select item 2605781	NM_022662.4(ANAPC1):c.486T>G (p.His162Gln)	ANAPC1 (H162Q)	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 2596694	NM_022662.4(ANAPC1):c.994A>G (p.Thr332Ala)	ANAPC1 (T332A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594058	NM_022662.4(ANAPC1):c.341A>G (p.Tyr114Cys)	ANAPC1 (Y114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580318	GRCh37/hg19 2q13(chr2:111335152-113127204)x1	ACOXL, ANAPC1 +9 more	Copy number loss	2q13 microdeletion syndrome	GPathogenic
Select item 2578904	GRCh37/hg19 2q13(chr2:111395541-113090065)x1	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2565435	NM_022662.4(ANAPC1):c.577G>A (p.Ala193Thr)	ANAPC1 (A193T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558251	NM_022662.4(ANAPC1):c.1037A>G (p.Asn346Ser)	ANAPC1 (N346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551373	NM_022662.4(ANAPC1):c.529G>A (p.Val177Ile)	ANAPC1 (V177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2548587	NM_022662.4(ANAPC1):c.5201A>G (p.Lys1734Arg)	ANAPC1 (K1734R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545317	NM_022662.4(ANAPC1):c.1787C>T (p.Thr596Ile)	ANAPC1 (T596I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2537906	NM_022662.4(ANAPC1):c.4550G>T (p.Ser1517Ile)	ANAPC1 (S1517I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536608	NM_022662.4(ANAPC1):c.1171T>A (p.Ser391Thr)	ANAPC1 (S391T)	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 2533181	NM_022662.4(ANAPC1):c.4960C>G (p.Pro1654Ala)	ANAPC1 (P1654A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523076	NM_022662.4(ANAPC1):c.287C>G (p.Ala96Gly)	ANAPC1 (A96G)	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 2510062	NM_022662.4(ANAPC1):c.4927T>C (p.Trp1643Arg)	ANAPC1 (W1643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498870	GRCh37/hg19 2q13(chr2:111368292-113191030)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	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 2480570	NM_022662.4(ANAPC1):c.3077T>C (p.Leu1026Ser)	ANAPC1 (L1026S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439035	NM_022662.4(ANAPC1):c.236G>A (p.Gly79Glu)	ANAPC1 (G79E)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 1	GUncertain significance
Select item 2439034	NM_022662.4(ANAPC1):c.1452A>T (p.Lys484Asn)	ANAPC1 (K484N)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 1	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 2400149	NM_022662.4(ANAPC1):c.2149C>G (p.Gln717Glu)	ANAPC1 (Q717E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2391258	NM_022662.4(ANAPC1):c.3889G>A (p.Ala1297Thr)	ANAPC1 (A1297T)	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 2380585	NM_022662.4(ANAPC1):c.2668G>A (p.Asp890Asn)	ANAPC1 (D890N)	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 2365706	NM_022662.4(ANAPC1):c.1838C>T (p.Ala613Val)	ANAPC1 (A613V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2359310	NM_022662.4(ANAPC1):c.2435C>T (p.Thr812Met)	ANAPC1 (T812M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357393	NM_022662.4(ANAPC1):c.1198A>G (p.Thr400Ala)	ANAPC1 (T400A)	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 2349200	NM_022662.4(ANAPC1):c.4802A>G (p.Tyr1601Cys)	ANAPC1 (Y1601C)	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 2319559	NM_022662.4(ANAPC1):c.2180C>G (p.Ser727Cys)	ANAPC1 (S727C)	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 2307844	NM_022662.4(ANAPC1):c.1579C>T (p.Arg527Trp)	ANAPC1 (R527W)	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 2306061	NM_022662.4(ANAPC1):c.1502C>T (p.Thr501Ile)	ANAPC1 (T501I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304181	NM_022662.4(ANAPC1):c.1900G>C (p.Ala634Pro)	ANAPC1 (A634P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292739	NM_022662.4(ANAPC1):c.1693A>G (p.Lys565Glu)	ANAPC1 (K565E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287903	NM_022662.4(ANAPC1):c.1404T>A (p.Phe468Leu)	ANAPC1 (F468L)	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 2270506	NM_022662.4(ANAPC1):c.3181G>A (p.Glu1061Lys)	ANAPC1 (E1061K)	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 2269090	NM_022662.4(ANAPC1):c.1320G>T (p.Lys440Asn)	ANAPC1 (K440N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267336	NM_022662.4(ANAPC1):c.481A>G (p.Met161Val)	ANAPC1 (M161V)	Single nucleotide variant (missense variant)	not specified	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 2226335	NM_022662.4(ANAPC1):c.4222A>G (p.Thr1408Ala)	ANAPC1 (T1408A)	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 2215670	NM_022662.4(ANAPC1):c.2287T>A (p.Phe763Ile)	ANAPC1 (F763I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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