ClinVar for Gene (Select 2288) - ClinVar

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Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278965	NM_002014.4(FKBP4):c.1306A>T (p.Thr436Ser)	FKBP4, ITFG2-AS1 (T436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278964	NM_002014.4(FKBP4):c.1266G>C (p.Glu422Asp)	FKBP4, ITFG2-AS1 (E422D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278963	NM_002014.4(FKBP4):c.979A>T (p.Met327Leu)	FKBP4, ITFG2-AS1 (M327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278961	NM_002014.4(FKBP4):c.683G>A (p.Gly228Asp)	FKBP4, ITFG2-AS1 (G228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095321	NM_002014.4(FKBP4):c.839A>C (p.Tyr280Ser)	FKBP4, ITFG2-AS1 (Y280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095320	NM_002014.4(FKBP4):c.655G>A (p.Val219Met)	FKBP4, ITFG2-AS1 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095319	NM_002014.4(FKBP4):c.629G>A (p.Arg210His)	FKBP4, ITFG2-AS1 (R210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095318	NM_002014.4(FKBP4):c.575T>C (p.Ile192Thr)	FKBP4, ITFG2-AS1 (I192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095317	NM_002014.4(FKBP4):c.1195C>T (p.Arg399Trp)	FKBP4, ITFG2-AS1 (R399W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095316	NM_002014.4(FKBP4):c.1169A>G (p.Lys390Arg)	FKBP4, ITFG2-AS1 (K390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095315	NM_002014.4(FKBP4):c.1016T>C (p.Ile339Thr)	FKBP4, ITFG2-AS1 (I339T)	Single nucleotide variant (missense variant)	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 2631592	NM_002014.4(FKBP4):c.1319T>C (p.Met440Thr)	FKBP4, ITFG2-AS1 (M440T)	Single nucleotide variant (missense variant)	FKBP4-related disorder	GUncertain significance
Select item 2619921	NM_002014.4(FKBP4):c.1370C>G (p.Thr457Arg)	FKBP4, ITFG2-AS1 (T457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601410	NM_002014.4(FKBP4):c.1053C>A (p.Asn351Lys)	FKBP4, ITFG2-AS1 (N351K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588489	NM_002014.4(FKBP4):c.1321A>G (p.Lys441Glu)	FKBP4, ITFG2-AS1 (K441E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545035	NM_002014.4(FKBP4):c.1273G>T (p.Ala425Ser)	FKBP4, ITFG2-AS1 (A425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536416	NM_002014.4(FKBP4):c.1353C>G (p.Ser451Arg)	FKBP4, ITFG2-AS1 (S451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461420	NM_002014.4(FKBP4):c.1183G>A (p.Val395Met)	FKBP4, ITFG2-AS1 (V395M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2355880	NM_002014.4(FKBP4):c.628C>T (p.Arg210Cys)	FKBP4, ITFG2-AS1 (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352223	NM_002014.4(FKBP4):c.1217G>A (p.Arg406Gln)	FKBP4, ITFG2-AS1 (R406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344810	NM_002014.4(FKBP4):c.923A>G (p.Asn308Ser)	FKBP4, ITFG2-AS1 (N308S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338279	NM_002014.4(FKBP4):c.655G>T (p.Val219Leu)	FKBP4, ITFG2-AS1 (V219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313590	NM_002014.4(FKBP4):c.691G>T (p.Gly231Trp)	FKBP4, ITFG2-AS1 (G231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298401	NM_002014.4(FKBP4):c.850G>A (p.Gly284Ser)	FKBP4, ITFG2-AS1 (G284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291518	NM_002014.4(FKBP4):c.1027A>G (p.Asn343Asp)	FKBP4, ITFG2-AS1 (N343D)	Single nucleotide variant (missense variant)	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	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +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 787390	NM_002014.4(FKBP4):c.763-4G>A	FKBP4, ITFG2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786220	NM_002014.4(FKBP4):c.1362G>C (p.Gln454His)	FKBP4, ITFG2-AS1 (Q454H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768503	NM_002014.4(FKBP4):c.134A>C (p.Glu45Ala)	FKBP4, ITFG2-AS1 +1 more (E45A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 756694	NM_002014.4(FKBP4):c.1140G>A (p.Leu380=)	FKBP4, ITFG2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742970	NM_002014.4(FKBP4):c.541A>C (p.Lys181Gln)	FKBP4, ITFG2-AS1 (K181Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 741680	NM_002014.4(FKBP4):c.566G>A (p.Arg189His)	FKBP4, ITFG2-AS1 (R189H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441847	GRCh37/hg19 12p13.33-13.32(chr12:2245848-3614555)x3	CACNA1C, FKBP4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253551	GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 153115	GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3	CACNA1C, CACNA1C-AS1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 153100	GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3	CACNA1C, CACNA1C-AS1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, CACNA1C +91 more	Copy number loss	See cases	GPathogenic
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 94