Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | FKBP14 | Human | Ehlers-Danlos syndrome kyphoscoliotic type 2 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | FKBP14 | Human | Ehlers-Danlos syndrome kyphoscoliotic type 2 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:12036304 | PMID:12477932 | PMID:12690205 | PMID:12975309 | PMID:14702039 | PMID:15340161 | PMID:15489334 | PMID:16344560 | PMID:18457437 | PMID:19189656 | PMID:19322201 | PMID:19862764 |
PMID:21900206 | PMID:22265013 | PMID:22675492 | PMID:24272907 | PMID:24773188 | PMID:24821723 | PMID:26186194 | PMID:26344197 | PMID:27131312 | PMID:27149304 | PMID:27223089 | PMID:27905128 |
PMID:28385890 | PMID:28514442 | PMID:28731139 | PMID:30561154 | PMID:31132235 | PMID:31949249 | PMID:32296183 | PMID:33579342 | PMID:33961781 | PMID:34079125 | PMID:34349018 | PMID:34504686 |
PMID:35696571 | PMID:36054293 | PMID:37894834 |
FKBP14 (Homo sapiens - human) |
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Fkbp14 (Mus musculus - house mouse) |
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Fkbp14 (Rattus norvegicus - Norway rat) |
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Fkbp14 (Chinchilla lanigera - long-tailed chinchilla) |
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FKBP14 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Fkbp14 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FKBP14 (Sus scrofa - pig) |
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FKBP14 (Chlorocebus sabaeus - green monkey) |
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Fkbp14 (Heterocephalus glaber - naked mole-rat) |
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Variants in FKBP14
195 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3 | copy number gain | not specified [RCV003986729] | Chr7:28940557..31806164 [GRCh37] Chr7:7p14.3 |
uncertain significance |
FKBP14, 1-BP INS, 362C | insertion | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss [RCV000024196]|Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss [RCV000024196] | Chr7:7p14.3 | pathogenic |
NM_017946.4(FKBP14):c.42_60del (p.Val14_Thr15insTer) | deletion | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000024197] | Chr7:30026449..30026467 [GRCh38] Chr7:30066065..30066083 [GRCh37] Chr7:7p14.3 |
pathogenic |
NM_017946.4(FKBP14):c.512A>C (p.His171Pro) | single nucleotide variant | Cardiovascular phenotype [RCV002341434]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000542233] | Chr7:30014859 [GRCh38] Chr7:30054475 [GRCh37] Chr7:7p14.3 |
uncertain significance |
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1 | copy number loss | not specified [RCV003986712] | Chr7:17736012..30663423 [GRCh37] Chr7:7p21.1-14.3 |
pathogenic |
NM_017946.4(FKBP14):c.197+5_197+8del | microsatellite | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000148990] | Chr7:30026304..30026307 [GRCh38] Chr7:30065920..30065923 [GRCh37] Chr7:7p14.3 |
pathogenic|likely pathogenic|not provided |
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 | copy number gain | See cases [RCV000051159] | Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1 |
pathogenic |
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 | copy number gain | See cases [RCV000053530] | Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p15.2-14.3(chr7:25511691-30421133)x1 | copy number loss | See cases [RCV000052310] | Chr7:25511691..30421133 [GRCh38] Chr7:25551310..30460749 [GRCh37] Chr7:25517835..30427274 [NCBI36] Chr7:7p15.2-14.3 |
pathogenic |
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv | inversion | Childhood apraxia of speech [RCV000234948] | Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1 |
pathogenic |
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 | copy number loss | See cases [RCV000136775] | Chr7:20561456..32005143 [GRCh38] Chr7:20601079..32044755 [GRCh37] Chr7:20567604..32011280 [NCBI36] Chr7:7p21.1-14.3 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
NM_017946.4(FKBP14):c.41T>C (p.Val14Ala) | single nucleotide variant | not provided [RCV004762404] | uncertain significance | |
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 | copy number loss | See cases [RCV000240125] | Chr7:22935369..32621975 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) | duplication | Cardiovascular phenotype [RCV002460064]|Congenital muscular dystrophy [RCV000415176]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000533832]|FKBP14-related disorder [RCV004757185]|not provided [RCV000262568] | Chr7:30019110..30019111 [GRCh38] Chr7:30058726..30058727 [GRCh37] Chr7:7p14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_017946.4(FKBP14):c.48_50del (p.Leu17del) | deletion | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001079159]|not provided [RCV000415956] | Chr7:30026459..30026461 [GRCh38] Chr7:30066075..30066077 [GRCh37] Chr7:7p14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017946.4(FKBP14):c.330C>T (p.Gly110=) | single nucleotide variant | Cardiovascular phenotype [RCV002323646]|Ehlers-Danlos syndrome [RCV002279211]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000650168]|not provided [RCV003437200]|not specified [RCV000424118] | Chr7:30022684 [GRCh38] Chr7:30062300 [GRCh37] Chr7:7p14.3 |
benign|likely benign |
NM_017946.4(FKBP14):c.375G>C (p.Leu125=) | single nucleotide variant | Cardiovascular phenotype [RCV002348242]|Ehlers-Danlos syndrome [RCV002279213]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000548744]|not provided [RCV001721425] | Chr7:30019098 [GRCh38] Chr7:30058714 [GRCh37] Chr7:7p14.3 |
benign|likely benign |
NM_017946.4(FKBP14):c.165C>T (p.Tyr55=) | single nucleotide variant | Cardiovascular phenotype [RCV002402160]|Ehlers-Danlos syndrome [RCV002279183]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000535304]|not specified [RCV000438523] | Chr7:30026344 [GRCh38] Chr7:30065960 [GRCh37] Chr7:7p14.3 |
benign |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 | copy number gain | See cases [RCV000446478] | Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2 |
pathogenic |
TMEM106B-BRAF fusion | deletion | Pleomorphic xanthoastrocytoma [RCV000454357] | Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
NM_017946.4(FKBP14):c.*672C>T | single nucleotide variant | not specified [RCV000454861] | Chr7:30014063 [GRCh38] Chr7:30053679 [GRCh37] Chr7:7p14.3 |
benign |
NM_017946.4(FKBP14):c.275T>G (p.Leu92Trp) | single nucleotide variant | not provided [RCV000489381] | Chr7:30022739 [GRCh38] Chr7:30062355 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met) | single nucleotide variant | Cardiovascular phenotype [RCV002455946]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000698654]|Hypotonia [RCV001270094]|not provided [RCV000490237] | Chr7:30019116 [GRCh38] Chr7:30058732 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) | microsatellite | Cardiovascular phenotype [RCV002341173]|Ehlers-Danlos syndrome [RCV002279278]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001081602]|FKBP14-related disorder [RCV003932798]|not provided [RCV000727030] | Chr7:30014873..30014875 [GRCh38] Chr7:30054489..30054491 [GRCh37] Chr7:7p14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) | deletion | Cardiovascular phenotype [RCV002350107]|Ehlers-Danlos syndrome [RCV002279276]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000552587]|not provided [RCV001722417] | Chr7:30014801..30014803 [GRCh38] Chr7:30054417..30054419 [GRCh37] Chr7:7p14.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p14.3(chr7:29751912-30452918)x3 | copy number gain | See cases [RCV000511864] | Chr7:29751912..30452918 [GRCh37] Chr7:7p14.3 |
uncertain significance |
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 | copy number gain | See cases [RCV000512091] | Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_017946.4(FKBP14):c.50T>C (p.Leu17Ser) | single nucleotide variant | Cardiovascular phenotype [RCV004024224]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000527938] | Chr7:30026459 [GRCh38] Chr7:30066075 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.34C>G (p.Leu12Val) | single nucleotide variant | Cardiovascular phenotype [RCV002456226]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000549637]|not provided [RCV001566106] | Chr7:30026475 [GRCh38] Chr7:30066091 [GRCh37] Chr7:7p14.3 |
benign|likely benign |
NM_017946.4(FKBP14):c.410G>C (p.Gly137Ala) | single nucleotide variant | not provided [RCV000520972] | Chr7:30019063 [GRCh38] Chr7:30058679 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.119G>A (p.Arg40His) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000556850] | Chr7:30026390 [GRCh38] Chr7:30066006 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.350-8C>T | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000559890]|FKBP14-related disorder [RCV003900224]|not provided [RCV003437272]|not specified [RCV000609110] | Chr7:30019131 [GRCh38] Chr7:30058747 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer) | microsatellite | Cardiovascular phenotype [RCV004025266]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000650166]|not provided [RCV003480717] | Chr7:30019005..30019006 [GRCh38] Chr7:30058621..30058622 [GRCh37] Chr7:7p14.3 |
likely pathogenic|uncertain significance |
NM_017946.4(FKBP14):c.123G>A (p.Lys41=) | single nucleotide variant | Cardiovascular phenotype [RCV002377278]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000873758]|not provided [RCV000603030] | Chr7:30026386 [GRCh38] Chr7:30066002 [GRCh37] Chr7:7p14.3 |
benign|likely benign |
NM_017946.4(FKBP14):c.-22C>T | single nucleotide variant | not specified [RCV000604816] | Chr7:30026530 [GRCh38] Chr7:30066146 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.495G>A (p.Lys165=) | single nucleotide variant | Cardiovascular phenotype [RCV002350358]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000539149]|not provided [RCV004705665]|not specified [RCV000591650] | Chr7:30014876 [GRCh38] Chr7:30054492 [GRCh37] Chr7:7p14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_017946.4(FKBP14):c.349+16T>G | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002064013]|not specified [RCV000614979] | Chr7:30022649 [GRCh38] Chr7:30062265 [GRCh37] Chr7:7p14.3 |
benign|likely benign |
NM_017946.4(FKBP14):c.116A>G (p.His39Arg) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000650167] | Chr7:30026393 [GRCh38] Chr7:30066009 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.156T>A (p.Tyr52Ter) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000687575] | Chr7:30026353 [GRCh38] Chr7:30065969 [GRCh37] Chr7:7p14.3 |
pathogenic |
NM_017946.4(FKBP14):c.580G>A (p.Asp194Asn) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000688619] | Chr7:30014791 [GRCh38] Chr7:30054407 [GRCh37] Chr7:7p14.3 |
uncertain significance |
GRCh37/hg19 7p14.3(chr7:30044128-30062424)x1 | copy number loss | not provided [RCV000746590] | Chr7:30044128..30062424 [GRCh37] Chr7:7p14.3 |
benign |
GRCh37/hg19 7p14.3(chr7:30055807-30067626)x1 | copy number loss | not provided [RCV000746591] | Chr7:30055807..30067626 [GRCh37] Chr7:7p14.3 |
benign |
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del) | microsatellite | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000736019] | Chr7:30014796..30014798 [GRCh38] Chr7:30054412..30054414 [GRCh37] Chr7:7p14.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_017946.4(FKBP14):c.143T>A (p.Met48Lys) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000790616] | Chr7:30026366 [GRCh38] Chr7:30065982 [GRCh37] Chr7:7p14.3 |
pathogenic|not provided |
NM_017946.4(FKBP14):c.208_209del (p.Asn70fs) | deletion | not provided [RCV000722564] | Chr7:30022805..30022806 [GRCh38] Chr7:30062421..30062422 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NC_000007.13:g.23236782_30690453del7453672 | deletion | Silver Russell Syndrome-related disorder [RCV000785664] | Chr7:23236782..30690453 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
NM_017946.4(FKBP14):c.198-250_198-249insTTAA | insertion | not provided [RCV000827666] | Chr7:30023065..30023066 [GRCh38] Chr7:30062681..30062682 [GRCh37] Chr7:7p14.3 |
benign |
NM_017946.4(FKBP14):c.595A>G (p.Ile199Val) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000799549] | Chr7:30014776 [GRCh38] Chr7:30054392 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.511C>T (p.His171Tyr) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000812908] | Chr7:30014860 [GRCh38] Chr7:30054476 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.350-275A>G | single nucleotide variant | not provided [RCV000833366] | Chr7:30019398 [GRCh38] Chr7:30059014 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.3(FKBP14):c.-508T>C | single nucleotide variant | not provided [RCV000833390] | Chr7:30027016 [GRCh38] Chr7:30066632 [GRCh37] Chr7:7p14.3 |
benign |
NM_017946.4(FKBP14):c.34_35del (p.Leu12fs) | microsatellite | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000813591] | Chr7:30026474..30026475 [GRCh38] Chr7:30066090..30066091 [GRCh37] Chr7:7p14.3 |
pathogenic |
NM_017946.3(FKBP14):c.-597A>G | single nucleotide variant | not provided [RCV000831065] | Chr7:30027105 [GRCh38] Chr7:30066721 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.233C>T (p.Thr78Ile) | single nucleotide variant | Cardiovascular phenotype [RCV002442683]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000804280] | Chr7:30022781 [GRCh38] Chr7:30062397 [GRCh37] Chr7:7p14.3 |
uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_017946.4(FKBP14):c.525G>T (p.Val175=) | single nucleotide variant | Cardiovascular phenotype [RCV002336743]|Ehlers-Danlos syndrome [RCV002279558]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001089319]|not provided [RCV000841688] | Chr7:30014846 [GRCh38] Chr7:30054462 [GRCh37] Chr7:7p14.3 |
likely benign|uncertain significance |
NM_017946.4(FKBP14):c.198-125T>C | single nucleotide variant | not provided [RCV000838101] | Chr7:30022941 [GRCh38] Chr7:30062557 [GRCh37] Chr7:7p14.3 |
benign |
NM_017946.4(FKBP14):c.182C>T (p.Ser61Phe) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000805068] | Chr7:30026327 [GRCh38] Chr7:30065943 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.174G>A (p.Lys58=) | single nucleotide variant | Cardiovascular phenotype [RCV002399960]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000875843] | Chr7:30026335 [GRCh38] Chr7:30065951 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.207_208del (p.His69fs) | deletion | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000984515] | Chr7:30022806..30022807 [GRCh38] Chr7:30062422..30062423 [GRCh37] Chr7:7p14.3 |
likely pathogenic |
NM_017946.4(FKBP14):c.246G>A (p.Leu82=) | single nucleotide variant | Cardiovascular phenotype [RCV002454170]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000945352] | Chr7:30022768 [GRCh38] Chr7:30062384 [GRCh37] Chr7:7p14.3 |
benign|likely benign |
NM_017946.4(FKBP14):c.486A>T (p.Ala162=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001433612] | Chr7:30014885 [GRCh38] Chr7:30054501 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.139T>C (p.Leu47=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000983267] | Chr7:30026370 [GRCh38] Chr7:30065986 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.144G>A (p.Met48Ile) | single nucleotide variant | Cardiovascular phenotype [RCV002391066]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001317543]|not provided [RCV000998782] | Chr7:30026365 [GRCh38] Chr7:30065981 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000995548] | Chr7:30014735 [GRCh38] Chr7:30054351 [GRCh37] Chr7:7p14.3 |
pathogenic |
NC_000007.14:g.(?_30010573)_(30014903_?)del | deletion | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001031084] | Chr7:30050189..30054519 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.386T>C (p.Ile129Thr) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001058095] | Chr7:30019087 [GRCh38] Chr7:30058703 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.79G>C (p.Val27Leu) | single nucleotide variant | Cardiovascular phenotype [RCV004030971]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001036137] | Chr7:30026430 [GRCh38] Chr7:30066046 [GRCh37] Chr7:7p14.3 |
uncertain significance |
GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3 | copy number gain | not provided [RCV001005926] | Chr7:28487175..32037495 [GRCh37] Chr7:7p15.1-14.3 |
likely pathogenic |
NM_017946.4(FKBP14):c.557A>G (p.Asp186Gly) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001040612] | Chr7:30014814 [GRCh38] Chr7:30054430 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.250G>A (p.Ala84Thr) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001065833] | Chr7:30022764 [GRCh38] Chr7:30062380 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.206A>G (p.His69Arg) | single nucleotide variant | Cardiovascular phenotype [RCV003307887]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001058209]|not provided [RCV004783893] | Chr7:30022808 [GRCh38] Chr7:30062424 [GRCh37] Chr7:7p14.3 |
uncertain significance |
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 | copy number loss | not provided [RCV001005924] | Chr7:23877135..33139446 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
GRCh37/hg19 7p14.3(chr7:29803827-30071557)x3 | copy number gain | not provided [RCV001005927] | Chr7:29803827..30071557 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.92T>C (p.Val31Ala) | single nucleotide variant | Cardiovascular phenotype [RCV002372758]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001038176] | Chr7:30026417 [GRCh38] Chr7:30066033 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.164A>G (p.Tyr55Cys) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001211753] | Chr7:30026345 [GRCh38] Chr7:30065961 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.197+1G>A | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001215138] | Chr7:30026311 [GRCh38] Chr7:30065927 [GRCh37] Chr7:7p14.3 |
likely pathogenic |
NM_017946.4(FKBP14):c.568A>C (p.Lys190Gln) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001204376] | Chr7:30014803 [GRCh38] Chr7:30054419 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.147G>C (p.Leu49Phe) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001220099] | Chr7:30026362 [GRCh38] Chr7:30065978 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.582C>G (p.Asp194Glu) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001216205] | Chr7:30014789 [GRCh38] Chr7:30054405 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.619A>C (p.Lys207Gln) | single nucleotide variant | Cardiovascular phenotype [RCV003163683]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001219079] | Chr7:30014752 [GRCh38] Chr7:30054368 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.477+1G>A | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001241627]|not provided [RCV004719111] | Chr7:30018995 [GRCh38] Chr7:30058611 [GRCh37] Chr7:7p14.3 |
likely pathogenic|uncertain significance |
GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3 | copy number gain | not provided [RCV001258937] | Chr7:29758030..31318843 [GRCh37] Chr7:7p14.3 |
likely pathogenic |
NM_017946.4(FKBP14):c.247G>A (p.Glu83Lys) | single nucleotide variant | Cardiovascular phenotype [RCV004036310]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001304410]|not provided [RCV003227024] | Chr7:30022767 [GRCh38] Chr7:30062383 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.340G>A (p.Glu114Lys) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001332214] | Chr7:30022674 [GRCh38] Chr7:30062290 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.30G>C (p.Leu10Phe) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001324981] | Chr7:30026479 [GRCh38] Chr7:30066095 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NC_000007.13:g.(?_30049199)_(30067417_?)dup | duplication | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001352279] | Chr7:30049199..30067417 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.518C>T (p.Ala173Val) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001339103]|not provided [RCV001815541] | Chr7:30014853 [GRCh38] Chr7:30054469 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.25G>A (p.Val9Ile) | single nucleotide variant | Cardiovascular phenotype [RCV002430094]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001298711] | Chr7:30026484 [GRCh38] Chr7:30066100 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.499G>A (p.Glu167Lys) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001341112] | Chr7:30014872 [GRCh38] Chr7:30054488 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.179G>A (p.Gly60Asp) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001337981] | Chr7:30026330 [GRCh38] Chr7:30065946 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.257A>G (p.Lys86Arg) | single nucleotide variant | Cardiovascular phenotype [RCV003375235]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001338982] | Chr7:30022757 [GRCh38] Chr7:30062373 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.137A>G (p.Asp46Gly) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001340559] | Chr7:30026372 [GRCh38] Chr7:30065988 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.349+6A>C | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001320630] | Chr7:30022659 [GRCh38] Chr7:30062275 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser) | single nucleotide variant | Cardiovascular phenotype [RCV002350697]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001367451] | Chr7:30014811 [GRCh38] Chr7:30054427 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr) | single nucleotide variant | Cardiovascular phenotype [RCV002341800]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001370291] | Chr7:30019006 [GRCh38] Chr7:30058622 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.445C>G (p.Leu149Val) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001373526] | Chr7:30019028 [GRCh38] Chr7:30058644 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NC_000007.13:g.(?_30050189)_(30054519_?)del | deletion | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss [RCV001323796] | Chr7:30050189..30054519 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.95_96del (p.Leu32fs) | microsatellite | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001380251] | Chr7:30026413..30026414 [GRCh38] Chr7:30066029..30066030 [GRCh37] Chr7:7p14.3 |
pathogenic |
NM_017946.4(FKBP14):c.39C>T (p.Phe13=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001441293] | Chr7:30026470 [GRCh38] Chr7:30066086 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.350-5G>A | single nucleotide variant | Cardiovascular phenotype [RCV002342086]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001481821]|FKBP14-related disorder [RCV004731156]|not provided [RCV001786488] | Chr7:30019128 [GRCh38] Chr7:30058744 [GRCh37] Chr7:7p14.3 |
likely benign|uncertain significance |
NM_017946.4(FKBP14):c.66C>A (p.Ile22=) | single nucleotide variant | Cardiovascular phenotype [RCV002368401]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001457801] | Chr7:30026443 [GRCh38] Chr7:30066059 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.222C>T (p.Pro74=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001453660] | Chr7:30022792 [GRCh38] Chr7:30062408 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.349+10T>G | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001473606] | Chr7:30022655 [GRCh38] Chr7:30062271 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.478-34A>G | single nucleotide variant | not provided [RCV001547707] | Chr7:30014927 [GRCh38] Chr7:30054543 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.350-6C>T | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001506715] | Chr7:30019129 [GRCh38] Chr7:30058745 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.349+15G>A | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002072190]|not provided [RCV001568929] | Chr7:30022650 [GRCh38] Chr7:30062266 [GRCh37] Chr7:7p14.3 |
benign|likely benign |
NM_017946.4(FKBP14):c.198-324T>C | single nucleotide variant | not provided [RCV001575377] | Chr7:30023140 [GRCh38] Chr7:30062756 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.478-115G>T | single nucleotide variant | not provided [RCV001666945] | Chr7:30015008 [GRCh38] Chr7:30054624 [GRCh37] Chr7:7p14.3 |
benign |
NM_017946.4(FKBP14):c.478-290C>T | single nucleotide variant | not provided [RCV001581204] | Chr7:30015183 [GRCh38] Chr7:30054799 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.*2G>C | single nucleotide variant | not provided [RCV001581295] | Chr7:30014733 [GRCh38] Chr7:30054349 [GRCh37] Chr7:7p14.3 |
likely benign |
NC_000007.14:g.30026971TG[1] | microsatellite | not provided [RCV001655142] | Chr7:30026971..30026972 [GRCh38] Chr7:30066587..30066588 [GRCh37] Chr7:7p14.3 |
benign |
NM_017946.4(FKBP14):c.197+23T>C | single nucleotide variant | not provided [RCV001648261] | Chr7:30026289 [GRCh38] Chr7:30065905 [GRCh37] Chr7:7p14.3 |
benign |
NM_017946.4(FKBP14):c.349+79T>C | single nucleotide variant | not provided [RCV001652724] | Chr7:30022586 [GRCh38] Chr7:30062202 [GRCh37] Chr7:7p14.3 |
benign |
NM_017946.4(FKBP14):c.568A>T (p.Lys190Ter) | single nucleotide variant | not provided [RCV001762888] | Chr7:30014803 [GRCh38] Chr7:30054419 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.109A>C (p.Ile37Leu) | single nucleotide variant | not provided [RCV001765972] | Chr7:30026400 [GRCh38] Chr7:30066016 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.314T>C (p.Ile105Thr) | single nucleotide variant | Cardiovascular phenotype [RCV003299020]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003772275]|not provided [RCV001816456] | Chr7:30022700 [GRCh38] Chr7:30062316 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.350-8C>G | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001889339] | Chr7:30019131 [GRCh38] Chr7:30058747 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.18G>C (p.Trp6Cys) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002024068] | Chr7:30026491 [GRCh38] Chr7:30066107 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.467_469del (p.Ser156_Lys157delinsTer) | deletion | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001871136] | Chr7:30019004..30019006 [GRCh38] Chr7:30058620..30058622 [GRCh37] Chr7:7p14.3 |
uncertain significance |
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) | copy number gain | not specified [RCV002053668] | Chr7:10745750..35305167 [GRCh37] Chr7:7p21.3-14.2 |
likely pathogenic |
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) | copy number gain | not specified [RCV002053677] | Chr7:27507832..39072473 [GRCh37] Chr7:7p15.2-14.1 |
likely pathogenic |
NM_017946.4(FKBP14):c.556G>T (p.Asp186Tyr) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001984024] | Chr7:30014815 [GRCh38] Chr7:30054431 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.305A>G (p.Lys102Arg) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002003005] | Chr7:30022709 [GRCh38] Chr7:30062325 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.404G>A (p.Arg135Gln) | single nucleotide variant | Cardiovascular phenotype [RCV003382701]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001896667] | Chr7:30019069 [GRCh38] Chr7:30058685 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.478G>A (p.Val160Ile) | single nucleotide variant | Cardiovascular phenotype [RCV004043037]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001965213]|not provided [RCV003438903] | Chr7:30014893 [GRCh38] Chr7:30054509 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.527A>G (p.Asn176Ser) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001983507] | Chr7:30014844 [GRCh38] Chr7:30054460 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NC_000007.13:g.(?_30054351)_(31018859_?)dup | duplication | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001911803] | Chr7:30054351..31018859 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.385A>G (p.Ile129Val) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001964974] | Chr7:30019088 [GRCh38] Chr7:30058704 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.198-3T>C | single nucleotide variant | Cardiovascular phenotype [RCV004041834]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001964776] | Chr7:30022819 [GRCh38] Chr7:30062435 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.218A>T (p.Gln73Leu) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001902890] | Chr7:30022796 [GRCh38] Chr7:30062412 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.573A>T (p.Glu191Asp) | single nucleotide variant | Cardiovascular phenotype [RCV004044159]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001919608] | Chr7:30014798 [GRCh38] Chr7:30054414 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.32C>T (p.Thr11Ile) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001954901] | Chr7:30026477 [GRCh38] Chr7:30066093 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.543T>A (p.Asp181Glu) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001954938] | Chr7:30014828 [GRCh38] Chr7:30054444 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002048772] | Chr7:30026503 [GRCh38] Chr7:30066119 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.478-1G>A | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002028454] | Chr7:30014894 [GRCh38] Chr7:30054510 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.136G>T (p.Asp46Tyr) | single nucleotide variant | Cardiovascular phenotype [RCV002386912]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002026482] | Chr7:30026373 [GRCh38] Chr7:30065989 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.16T>G (p.Trp6Gly) | single nucleotide variant | Cardiovascular phenotype [RCV003375453]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001921296] | Chr7:30026493 [GRCh38] Chr7:30066109 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.103C>A (p.Pro35Thr) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001866852] | Chr7:30026406 [GRCh38] Chr7:30066022 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.206dup (p.His69fs) | duplication | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001960107] | Chr7:30022807..30022808 [GRCh38] Chr7:30062423..30062424 [GRCh37] Chr7:7p14.3 |
pathogenic |
NM_017946.4(FKBP14):c.74C>G (p.Pro25Arg) | single nucleotide variant | Cardiovascular phenotype [RCV004616958]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002038274] | Chr7:30026435 [GRCh38] Chr7:30066051 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.173A>C (p.Lys58Thr) | single nucleotide variant | Cardiovascular phenotype [RCV002397889]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001907095]|not provided [RCV002074435] | Chr7:30026336 [GRCh38] Chr7:30065952 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.471A>C (p.Lys157Asn) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001940534] | Chr7:30019002 [GRCh38] Chr7:30058618 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.57G>A (p.Gly19=) | single nucleotide variant | Cardiovascular phenotype [RCV002352945]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002186549] | Chr7:30026452 [GRCh38] Chr7:30066068 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.478-19G>A | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001995485] | Chr7:30014912 [GRCh38] Chr7:30054528 [GRCh37] Chr7:7p14.3 |
likely benign|uncertain significance |
NM_017946.4(FKBP14):c.561T>A (p.Ile187=) | single nucleotide variant | Cardiovascular phenotype [RCV002346405]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002075241] | Chr7:30014810 [GRCh38] Chr7:30054426 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.325C>T (p.Leu109=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002210328] | Chr7:30022689 [GRCh38] Chr7:30062305 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.478-14C>G | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002168578] | Chr7:30014907 [GRCh38] Chr7:30054523 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.198-16T>A | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002193310] | Chr7:30022832 [GRCh38] Chr7:30062448 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.198-19T>G | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002146876] | Chr7:30022835 [GRCh38] Chr7:30062451 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.105A>G (p.Pro35=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002115511] | Chr7:30026404 [GRCh38] Chr7:30066020 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.198-4A>G | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002167734] | Chr7:30022820 [GRCh38] Chr7:30062436 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.477+15_477+17del | microsatellite | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002094573] | Chr7:30018979..30018981 [GRCh38] Chr7:30058595..30058597 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.197+16C>T | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002114958] | Chr7:30026296 [GRCh38] Chr7:30065912 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.468T>C (p.Ser156=) | single nucleotide variant | Cardiovascular phenotype [RCV002331772]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002079275] | Chr7:30019005 [GRCh38] Chr7:30058621 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.477+7T>A | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002140971] | Chr7:30018989 [GRCh38] Chr7:30058605 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.624C>T (p.His208=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002181775] | Chr7:30014747 [GRCh38] Chr7:30054363 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.558T>C (p.Asp186=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002160631] | Chr7:30014813 [GRCh38] Chr7:30054429 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.486A>C (p.Ala162=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002156121] | Chr7:30014885 [GRCh38] Chr7:30054501 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.333T>C (p.Tyr111=) | single nucleotide variant | Cardiovascular phenotype [RCV003161600]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002118961] | Chr7:30022681 [GRCh38] Chr7:30062297 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.349+10T>C | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002121327] | Chr7:30022655 [GRCh38] Chr7:30062271 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.376A>G (p.Ile126Val) | single nucleotide variant | not provided [RCV002261818] | Chr7:30019097 [GRCh38] Chr7:30058713 [GRCh37] Chr7:7p14.3 |
uncertain significance |
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) | copy number loss | Cyclical vomiting syndrome [RCV002280775] | Chr7:25451740..33864069 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
Single allele | complex | Ring chromosome 7 [RCV002280646] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_017946.4(FKBP14):c.349G>A (p.Gly117Ser) | single nucleotide variant | Ehlers-Danlos syndrome [RCV002278045] | Chr7:30022665 [GRCh38] Chr7:30062281 [GRCh37] Chr7:7p14.3 |
uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 | copy number loss | See cases [RCV002287832] | Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3 |
uncertain significance |
NM_017946.4(FKBP14):c.365A>G (p.Glu122Gly) | single nucleotide variant | Cardiovascular phenotype [RCV002452527] | Chr7:30019108 [GRCh38] Chr7:30058724 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.375G>A (p.Leu125=) | single nucleotide variant | Cardiovascular phenotype [RCV002349357] | Chr7:30019098 [GRCh38] Chr7:30058714 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.329G>T (p.Gly110Val) | single nucleotide variant | Cardiovascular phenotype [RCV002326204] | Chr7:30022685 [GRCh38] Chr7:30062301 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.424G>C (p.Glu142Gln) | single nucleotide variant | Cardiovascular phenotype [RCV002329850] | Chr7:30019049 [GRCh38] Chr7:30058665 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.426A>G (p.Glu142=) | single nucleotide variant | Cardiovascular phenotype [RCV002330002]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003645272] | Chr7:30019047 [GRCh38] Chr7:30058663 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.134G>A (p.Gly45Glu) | single nucleotide variant | Cardiovascular phenotype [RCV002387918] | Chr7:30026375 [GRCh38] Chr7:30065991 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.445C>T (p.Leu149Phe) | single nucleotide variant | Cardiovascular phenotype [RCV002328411] | Chr7:30019028 [GRCh38] Chr7:30058644 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.519G>A (p.Ala173=) | single nucleotide variant | Cardiovascular phenotype [RCV002338573]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003645285] | Chr7:30014852 [GRCh38] Chr7:30054468 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.297G>A (p.Glu99=) | single nucleotide variant | Cardiovascular phenotype [RCV002442197] | Chr7:30022717 [GRCh38] Chr7:30062333 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.556G>A (p.Asp186Asn) | single nucleotide variant | Cardiovascular phenotype [RCV002352048] | Chr7:30014815 [GRCh38] Chr7:30054431 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.512A>G (p.His171Arg) | single nucleotide variant | Cardiovascular phenotype [RCV002338160] | Chr7:30014859 [GRCh38] Chr7:30054475 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.267C>T (p.Asp89=) | single nucleotide variant | Cardiovascular phenotype [RCV002428884] | Chr7:30022747 [GRCh38] Chr7:30062363 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.408T>C (p.Asn136=) | single nucleotide variant | Cardiovascular phenotype [RCV002323224] | Chr7:30019065 [GRCh38] Chr7:30058681 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.265G>A (p.Asp89Asn) | single nucleotide variant | Cardiovascular phenotype [RCV002428733] | Chr7:30022749 [GRCh38] Chr7:30062365 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.34dup (p.Leu12fs) | duplication | not provided [RCV002461704] | Chr7:30026474..30026475 [GRCh38] Chr7:30066090..30066091 [GRCh37] Chr7:7p14.3 |
likely pathogenic |
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1 | copy number loss | not provided [RCV002475752] | Chr7:27133786..34466477 [GRCh37] Chr7:7p15.2-14.3 |
pathogenic |
NM_017946.4(FKBP14):c.197+6dup | duplication | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002903182] | Chr7:30026305..30026306 [GRCh38] Chr7:30065921..30065922 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp) | single nucleotide variant | Cardiovascular phenotype [RCV002417888]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003101097] | Chr7:30022799 [GRCh38] Chr7:30062415 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.114C>T (p.Cys38=) | single nucleotide variant | Cardiovascular phenotype [RCV002346637]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003094277] | Chr7:30026395 [GRCh38] Chr7:30066011 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.52A>T (p.Ile18Phe) | single nucleotide variant | Cardiovascular phenotype [RCV002344577] | Chr7:30026457 [GRCh38] Chr7:30066073 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.537T>A (p.His179Gln) | single nucleotide variant | Cardiovascular phenotype [RCV002347129]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003096714] | Chr7:30014834 [GRCh38] Chr7:30054450 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.16T>C (p.Trp6Arg) | single nucleotide variant | Cardiovascular phenotype [RCV002414692] | Chr7:30026493 [GRCh38] Chr7:30066109 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.186A>G (p.Leu62=) | single nucleotide variant | Cardiovascular phenotype [RCV002415053]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003774532]|not provided [RCV003439017] | Chr7:30026323 [GRCh38] Chr7:30065939 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.477+20A>C | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002819189] | Chr7:30018976 [GRCh38] Chr7:30058592 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.350-18C>T | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003033599] | Chr7:30019141 [GRCh38] Chr7:30058757 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.54T>C (p.Ile18=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002886173] | Chr7:30026455 [GRCh38] Chr7:30066071 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.555G>A (p.Glu185=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002867727] | Chr7:30014816 [GRCh38] Chr7:30054432 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.589G>A (p.Gly197Arg) | single nucleotide variant | Cardiovascular phenotype [RCV003170709]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002949042] | Chr7:30014782 [GRCh38] Chr7:30054398 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.351T>C (p.Gly117=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002735640] | Chr7:30019122 [GRCh38] Chr7:30058738 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.295G>C (p.Glu99Gln) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003078464] | Chr7:30022719 [GRCh38] Chr7:30062335 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.591G>T (p.Gly197=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003039909] | Chr7:30014780 [GRCh38] Chr7:30054396 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.36G>C (p.Leu12=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002953100] | Chr7:30026473 [GRCh38] Chr7:30066089 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.478-18G>T | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003056104] | Chr7:30014911 [GRCh38] Chr7:30054527 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.478-20T>C | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002574490] | Chr7:30014913 [GRCh38] Chr7:30054529 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.632T>C (p.Leu211Ser) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002574291] | Chr7:30014739 [GRCh38] Chr7:30054355 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002574060] | Chr7:30019045 [GRCh38] Chr7:30058661 [GRCh37] Chr7:7p14.3 |
pathogenic|likely pathogenic |
NM_017946.4(FKBP14):c.350-7A>G | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002791112] | Chr7:30019130 [GRCh38] Chr7:30058746 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.52A>G (p.Ile18Val) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002932286] | Chr7:30026457 [GRCh38] Chr7:30066073 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.53T>C (p.Ile18Thr) | single nucleotide variant | Cardiovascular phenotype [RCV004617167]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003058645] | Chr7:30026456 [GRCh38] Chr7:30066072 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.99G>A (p.Gln33=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002575384] | Chr7:30026410 [GRCh38] Chr7:30066026 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.194C>T (p.Ser65Phe) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002811088] | Chr7:30026315 [GRCh38] Chr7:30065931 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.24G>T (p.Ala8=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003072343] | Chr7:30026485 [GRCh38] Chr7:30066101 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.535CAT[1] (p.His180del) | microsatellite | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003092419] | Chr7:30014831..30014833 [GRCh38] Chr7:30054447..30054449 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.203A>G (p.Lys68Arg) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002631993] | Chr7:30022811 [GRCh38] Chr7:30062427 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.393C>A (p.Leu131=) | single nucleotide variant | Cardiovascular phenotype [RCV003384317]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003068943] | Chr7:30019080 [GRCh38] Chr7:30058696 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.349+18T>C | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003065511] | Chr7:30022647 [GRCh38] Chr7:30062263 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.350-13T>C | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003069677] | Chr7:30019136 [GRCh38] Chr7:30058752 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.307C>T (p.Leu103Phe) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003068080] | Chr7:30022707 [GRCh38] Chr7:30062323 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.615A>G (p.Thr205=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003117001] | Chr7:30014756 [GRCh38] Chr7:30054372 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.40G>C (p.Val14Leu) | single nucleotide variant | Cardiovascular phenotype [RCV004245904]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003121928] | Chr7:30026469 [GRCh38] Chr7:30066085 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.21C>A (p.Asn7Lys) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003104324] | Chr7:30026488 [GRCh38] Chr7:30066104 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.52_55del (p.Ile18fs) | deletion | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003226828] | Chr7:30026454..30026457 [GRCh38] Chr7:30066070..30066073 [GRCh37] Chr7:7p14.3 |
likely pathogenic |
NM_017946.4(FKBP14):c.554A>G (p.Glu185Gly) | single nucleotide variant | Cardiovascular phenotype [RCV004305912] | Chr7:30014817 [GRCh38] Chr7:30054433 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.223A>G (p.Ile75Val) | single nucleotide variant | Cardiovascular phenotype [RCV003387240] | Chr7:30022791 [GRCh38] Chr7:30062407 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.133G>T (p.Gly45Trp) | single nucleotide variant | Cardiovascular phenotype [RCV003387241] | Chr7:30026376 [GRCh38] Chr7:30065992 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.224T>G (p.Ile75Ser) | single nucleotide variant | Cardiovascular phenotype [RCV004364840]|not provided [RCV003481834] | Chr7:30022790 [GRCh38] Chr7:30062406 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.576T>C (p.Asp192=) | single nucleotide variant | Cardiovascular phenotype [RCV004621861]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644763] | Chr7:30014795 [GRCh38] Chr7:30054411 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.93T>G (p.Val31=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644797] | Chr7:30026416 [GRCh38] Chr7:30066032 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.306G>A (p.Lys102=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644801] | Chr7:30022708 [GRCh38] Chr7:30062324 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.87T>G (p.Ile29Met) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644590] | Chr7:30026422 [GRCh38] Chr7:30066038 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.429A>G (p.Ser143=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644844] | Chr7:30019044 [GRCh38] Chr7:30058660 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.477+20A>T | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003645639] | Chr7:30018976 [GRCh38] Chr7:30058592 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.75A>G (p.Pro25=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644600] | Chr7:30026434 [GRCh38] Chr7:30066050 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.99G>T (p.Gln33His) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003645435] | Chr7:30026410 [GRCh38] Chr7:30066026 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.204A>G (p.Lys68=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003529813] | Chr7:30022810 [GRCh38] Chr7:30062426 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.198-8T>C | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003531385] | Chr7:30022824 [GRCh38] Chr7:30062440 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.350-17T>C | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003530767] | Chr7:30019140 [GRCh38] Chr7:30058756 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003531012] | Chr7:30022750 [GRCh38] Chr7:30062366 [GRCh37] Chr7:7p14.3 |
pathogenic |
NM_017946.4(FKBP14):c.432C>T (p.Phe144=) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003820227] | Chr7:30019041 [GRCh38] Chr7:30058657 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.447T>C (p.Leu149=) | single nucleotide variant | Cardiovascular phenotype [RCV004524227] | Chr7:30019026 [GRCh38] Chr7:30058642 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.524T>A (p.Val175Glu) | single nucleotide variant | Cardiovascular phenotype [RCV004524228] | Chr7:30014847 [GRCh38] Chr7:30054463 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.533G>C (p.Ser178Thr) | single nucleotide variant | Cardiovascular phenotype [RCV004524229] | Chr7:30014838 [GRCh38] Chr7:30054454 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.570A>G (p.Lys190=) | single nucleotide variant | Cardiovascular phenotype [RCV004524231] | Chr7:30014801 [GRCh38] Chr7:30054417 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.582C>T (p.Asp194=) | single nucleotide variant | Cardiovascular phenotype [RCV004524232] | Chr7:30014789 [GRCh38] Chr7:30054405 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.155A>G (p.Tyr52Cys) | single nucleotide variant | Cardiovascular phenotype [RCV004524225] | Chr7:30026354 [GRCh38] Chr7:30065970 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.53T>A (p.Ile18Asn) | single nucleotide variant | Cardiovascular phenotype [RCV004524230] | Chr7:30026456 [GRCh38] Chr7:30066072 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NC_000007.13:g.(?_30054351)_(30963244_?)del | deletion | Charcot-Marie-Tooth disease type 2 [RCV004583590] | Chr7:30054351..30963244 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.448A>G (p.Asn150Asp) | single nucleotide variant | Cardiovascular phenotype [RCV004623567] | Chr7:30019025 [GRCh38] Chr7:30058641 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.514G>A (p.Gly172Ser) | single nucleotide variant | Cardiovascular phenotype [RCV004623569] | Chr7:30014857 [GRCh38] Chr7:30054473 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.559A>G (p.Ile187Val) | single nucleotide variant | Cardiovascular phenotype [RCV004623572] | Chr7:30014812 [GRCh38] Chr7:30054428 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.454G>A (p.Asp152Asn) | single nucleotide variant | Cardiovascular phenotype [RCV004623571] | Chr7:30019019 [GRCh38] Chr7:30058635 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.595A>T (p.Ile199Leu) | single nucleotide variant | Cardiovascular phenotype [RCV004623570] | Chr7:30014776 [GRCh38] Chr7:30054392 [GRCh37] Chr7:7p14.3 |
uncertain significance |
NM_017946.4(FKBP14):c.270G>A (p.Gln90=) | single nucleotide variant | Cardiovascular phenotype [RCV004623573] | Chr7:30022744 [GRCh38] Chr7:30062360 [GRCh37] Chr7:7p14.3 |
likely benign |
NM_017946.4(FKBP14):c.626A>G (p.Asp209Gly) | single nucleotide variant | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV004796982] | Chr7:30014745 [GRCh38] Chr7:30054361 [GRCh37] |
uncertain significance |
NM_017946.4(FKBP14):c.161G>C (p.Gly54Ala) | single nucleotide variant | not provided [RCV004793046] | Chr7:30026348 [GRCh38] Chr7:30065964 [GRCh37] Chr7:7p14.3 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH65031 |
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RH71181 |
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GDB:3754616 |
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D17S610 |
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L17705 |
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STS-T76997 |
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L17971 |
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G35510 |
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D1S1423 |
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D5S1597E |
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D11S2921 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 174 | 1 |
RefSeq Transcripts | NG_032173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_017946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_046478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_046479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047420550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054358538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AACC02000087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC007285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK000738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC005206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR748502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA166879 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB498479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JQ797475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000222803 ⟹ ENSP00000222803 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000412494 ⟹ ENSP00000403279 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000419018 ⟹ ENSP00000406270 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000479939 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_017946 ⟹ NP_060416 | ||||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_046478 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_046479 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_047420550 ⟹ XP_047276506 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358538 ⟹ XP_054214513 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_060416 | (Get FASTA) | NCBI Sequence Viewer |
XP_047276506 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054214513 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH05206 | (Get FASTA) | NCBI Sequence Viewer |
AAQ89006 | (Get FASTA) | NCBI Sequence Viewer | |
AFH08820 | (Get FASTA) | NCBI Sequence Viewer | |
BAA91351 | (Get FASTA) | NCBI Sequence Viewer | |
EAL24457 | (Get FASTA) | NCBI Sequence Viewer | |
EAW93929 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000222803 | ||
ENSP00000222803.5 | |||
ENSP00000403279.1 | |||
ENSP00000406270.1 | |||
GenBank Protein | Q9NWM8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_060416 ⟸ NM_017946 |
- Peptide Label: | precursor |
- UniProtKB: | Q9NWM8 (UniProtKB/Swiss-Prot), A0A090N7V8 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000403279 ⟸ ENST00000412494 |
Ensembl Acc Id: | ENSP00000406270 ⟸ ENST00000419018 |
Ensembl Acc Id: | ENSP00000222803 ⟸ ENST00000222803 |
RefSeq Acc Id: | XP_047276506 ⟸ XM_047420550 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054214513 ⟸ XM_054358538 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9NWM8-F1-model_v2 | AlphaFold | Q9NWM8 | 1-211 | view protein structure |
RGD ID: | 7210263 | ||||||||
Promoter ID: | EPDNEW_H10877 | ||||||||
Type: | initiation region | ||||||||
Name: | FKBP14_1 | ||||||||
Description: | FK506 binding protein 14 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6805672 | ||||||||
Promoter ID: | HG_KWN:56793 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000214229, OTTHUMT00000327693, OTTHUMT00000327694, UC010KVQ.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:18625 | AgrOrtholog |
COSMIC | FKBP14 | COSMIC |
Ensembl Genes | ENSG00000106080 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000222803 | ENTREZGENE |
ENST00000222803.10 | UniProtKB/Swiss-Prot | |
ENST00000412494.1 | UniProtKB/TrEMBL | |
ENST00000419018.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.10.50.40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EF-hand | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000106080 | GTEx |
HGNC ID | HGNC:18625 | ENTREZGENE |
Human Proteome Map | FKBP14 | Human Proteome Map |
InterPro | EF-hand-dom_pair | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EF_Hand_1_Ca_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EF_hand_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PPIase_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PPIase_FKBP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PPIase_FKBP_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:55033 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 55033 | ENTREZGENE |
OMIM | 614505 | OMIM |
PANTHER | PEPTIDYL-PROLYL CIS-TRANS ISOMERASE FKBP14 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PEPTIDYL-PROLYL CIS-TRANS ISOMERASE FKBP7/14 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | FKBP_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA38608 | PharmGKB |
PROSITE | EF_HAND_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EF_HAND_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ER_TARGET | UniProtKB/Swiss-Prot | |
FKBP_PPIASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | FKBP-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF47473 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A090N7V8 | ENTREZGENE, UniProtKB/TrEMBL |
F8WBZ0_HUMAN | UniProtKB/TrEMBL | |
FKB14_HUMAN | UniProtKB/Swiss-Prot | |
H7C1Z9_HUMAN | UniProtKB/TrEMBL | |
Q9NWM8 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2018-11-06 | FKBP14 | FKBP prolyl isomerase 14 | FKBP14 | FK506 binding protein 14 | Symbol and/or name change | 5135510 | APPROVED |
2015-11-17 | FKBP14 | FK506 binding protein 14 | FKBP14 | FK506 binding protein 14, 22 kDa | Symbol and/or name change | 5135510 | APPROVED |