ClinVar for Gene (Select 2305) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3096505	NM_021953.4(FOXM1):c.680C>T (p.Ala227Val)	FOXM1 (A226V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096504	NM_021953.4(FOXM1):c.593G>A (p.Arg198His)	FOXM1 (R198H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096503	NM_021953.4(FOXM1):c.491G>A (p.Arg164Gln)	FOXM1 (R164Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096501	NM_021953.4(FOXM1):c.451A>C (p.Asn151His)	FOXM1 (N151H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096500	NM_021953.4(FOXM1):c.1915C>G (p.Pro639Ala)	FOXM1, ITFG2 (P581A +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096499	NM_021953.4(FOXM1):c.1817T>C (p.Leu606Pro)	FOXM1, ITFG2 (L590P +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096498	NM_021953.4(FOXM1):c.1708C>T (p.Arg570Cys)	FOXM1, ITFG2 (R329C +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096497	NM_021953.4(FOXM1):c.1701T>A (p.Ser567Arg)	FOXM1, ITFG2 (S311R +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096496	NM_021953.4(FOXM1):c.1627C>T (p.Arg543Trp)	FOXM1, ITFG2 (R565W +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096495	NM_021953.4(FOXM1):c.1583C>T (p.Ser528Leu)	FOXM1, ITFG2 (S470L +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096494	NM_021953.4(FOXM1):c.1517C>A (p.Ser506Tyr)	FOXM1, ITFG2 (S447Y +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096493	NM_021953.4(FOXM1):c.1495T>C (p.Ser499Pro)	FOXM1, ITFG2 (S498P +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096492	NM_021953.4(FOXM1):c.1331T>C (p.Leu444Pro)	FOXM1, ITFG2 (L203P +14 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096490	NM_021953.4(FOXM1):c.1226A>G (p.Glu409Gly)	FOXM1 (E350G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096489	NM_021953.4(FOXM1):c.121T>G (p.Ser41Ala)	FOXM1 (S41A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2664347	GRCh37/hg19 12p13.33(chr12:2775404-3044582)x3	CACNA1C, FKBP4 +6 more	Copy number gain	See cases	GLikely benign
Select item 2622032	NM_021953.4(FOXM1):c.1819C>A (p.Pro607Thr)	FOXM1, ITFG2 (P351T +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619736	NM_021953.4(FOXM1):c.1421C>T (p.Ala474Val)	FOXM1, ITFG2 (A233V +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609663	NM_021953.4(FOXM1):c.1628G>A (p.Arg543Gln)	FOXM1, ITFG2 (R485Q +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597679	NM_021953.4(FOXM1):c.2144A>G (p.Asn715Ser)	FOXM1, ITFG2 (N714S +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592239	NM_021953.4(FOXM1):c.1049G>A (p.Arg350His)	FOXM1 (R351H +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540224	NM_021953.4(FOXM1):c.1252C>T (p.Arg418Cys)	FOXM1 (R360C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535444	NM_021953.4(FOXM1):c.2249C>T (p.Pro750Leu)	FOXM1, ITFG2 (P691L +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520218	NM_021953.4(FOXM1):c.1235G>A (p.Arg412His)	FOXM1 (R171H +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519093	NM_021953.4(FOXM1):c.1633C>T (p.Arg545Trp)	FOXM1, ITFG2 (R567W +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516304	NM_021953.4(FOXM1):c.766C>T (p.Arg256Cys)	FOXM1 (R255C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512160	NM_021953.4(FOXM1):c.1642C>G (p.Gln548Glu)	FOXM1, ITFG2 (Q292E +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487883	NM_021953.4(FOXM1):c.1181C>T (p.Ser394Leu)	FOXM1 (S336L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487565	NM_021953.4(FOXM1):c.1661G>T (p.Cys554Phe)	FOXM1, ITFG2 (C313F +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480526	NM_021953.4(FOXM1):c.1633C>G (p.Arg545Gly)	FOXM1, ITFG2 (R531G +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464210	NM_021953.4(FOXM1):c.1339G>A (p.Gly447Arg)	FOXM1, ITFG2 (G191R +14 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456131	NM_021953.4(FOXM1):c.2147G>A (p.Arg716His)	FOXM1, ITFG2 (R658H +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2410190	NM_021953.4(FOXM1):c.1915C>T (p.Pro639Ser)	FOXM1, ITFG2 (P383S +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394995	NM_021953.4(FOXM1):c.2036C>T (p.Ser679Leu)	FOXM1, ITFG2 (S679L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388150	NM_021953.4(FOXM1):c.2114C>T (p.Pro705Leu)	FOXM1, ITFG2 (P691L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380426	NM_021953.4(FOXM1):c.425G>A (p.Gly142Glu)	FOXM1 (G142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362728	NM_021953.4(FOXM1):c.1717G>A (p.Ala573Thr)	FOXM1, ITFG2 (A515T +14 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357822	NM_021953.4(FOXM1):c.611T>C (p.Met204Thr)	FOXM1 (M204T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337796	NM_021953.4(FOXM1):c.599T>C (p.Ile200Thr)	FOXM1 (I200T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335169	NM_021953.4(FOXM1):c.1814C>T (p.Thr605Met)	FOXM1, ITFG2 (T547M +14 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317630	NM_021953.4(FOXM1):c.203C>A (p.Pro68His)	FOXM1 (P68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317046	NM_021953.4(FOXM1):c.497C>A (p.Thr166Asn)	FOXM1 (T166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306979	NM_021953.4(FOXM1):c.668C>T (p.Ser223Leu)	FOXM1 (S223L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299748	NM_021953.4(FOXM1):c.1234C>T (p.Arg412Cys)	FOXM1 (P432L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287163	NM_021953.4(FOXM1):c.365G>A (p.Arg122Gln)	FOXM1 (R122Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275544	NM_021953.4(FOXM1):c.1373C>T (p.Thr458Ile)	FOXM1, ITFG2 (T202I +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267760	NM_021953.4(FOXM1):c.349C>A (p.Gln117Lys)	FOXM1 (Q117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262751	NM_021953.4(FOXM1):c.1945C>G (p.Pro649Ala)	FOXM1, ITFG2 (P633A +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249446	NM_021953.4(FOXM1):c.1826C>T (p.Ser609Phe)	FOXM1, ITFG2 (S550F +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233833	NM_021953.4(FOXM1):c.1669G>A (p.Glu557Lys)	FOXM1, ITFG2 (E499K +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218395	NM_021953.4(FOXM1):c.1799C>T (p.Thr600Ile)	FOXM1, ITFG2 (T584I +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213346	NM_021953.4(FOXM1):c.1975C>T (p.Leu659Phe)	FOXM1, ITFG2 (L418F +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211491	NM_021953.4(FOXM1):c.1673C>T (p.Pro558Leu)	FOXM1, ITFG2 (P302L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210820	NM_021953.4(FOXM1):c.1295C>G (p.Pro432Arg)	ITFG2, FOXM1 (P417R +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527677	GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	AKAP3, C12orf4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	ACRBP, ACSM4 +106 more	Copy number gain	Small hand +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 788576	NM_021953.4(FOXM1):c.1665G>A (p.Val555=)	FOXM1, ITFG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784225	NM_021953.4(FOXM1):c.538A>C (p.Ser180Arg)	FOXM1 (S179R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783653	NM_021953.4(FOXM1):c.1091-5C>T	FOXM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776686	NM_021953.4(FOXM1):c.891G>A (p.Arg297=)	FOXM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774481	NM_021953.4(FOXM1):c.1182G>C (p.Ser394=)	FOXM1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 774480	NM_021953.4(FOXM1):c.1638= (p.Arg546=)	FOXM1, ITFG2 +1 more	Variation (no sequence alteration)	not provided	GBenign
Select item 773528	NM_021953.4(FOXM1):c.2018C>T (p.Pro673Leu)	ITFG2, FOXM1 (P658L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 753121	NM_021953.4(FOXM1):c.1881G>A (p.Thr627=)	FOXM1, ITFG2 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734377	NM_021953.4(FOXM1):c.1005C>T (p.Pro335=)	FOXM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 711070	NM_021953.4(FOXM1):c.2006C>G (p.Pro669Arg)	FOXM1, ITFG2 (P653R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709111	NM_021953.4(FOXM1):c.852C>T (p.Ser284=)	FOXM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708540	NM_021953.4(FOXM1):c.16C>T (p.Arg6Cys)	FOXM1 (R6C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708115	NM_021953.4(FOXM1):c.2002C>A (p.Pro668Thr)	FOXM1, ITFG2 (P706T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563982	GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic

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