Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | achondrogenesis type IA | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | achondrogenesis type IA | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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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:7776974 | PMID:8603043 | PMID:9256431 | PMID:9373237 | PMID:10189370 | PMID:11463340 | PMID:12383348 | PMID:12477932 | PMID:12508121 | PMID:15485806 | PMID:16051665 | PMID:16341674 |
PMID:16344560 | PMID:16713569 | PMID:17081983 | PMID:17438371 | PMID:17979178 | PMID:18029348 | PMID:18391950 | PMID:18391951 | PMID:18451304 | PMID:19112494 | PMID:19266077 | PMID:19324882 |
PMID:19715559 | PMID:19730683 | PMID:20089971 | PMID:20546612 | PMID:20881960 | PMID:21512126 | PMID:21873635 | PMID:22792062 | PMID:23240775 | PMID:23414517 | PMID:24919196 | PMID:25429064 |
PMID:25468996 | PMID:25473115 | PMID:25717001 | PMID:26496610 | PMID:26638075 | PMID:27173435 | PMID:27458799 | PMID:28514442 | PMID:28692057 | PMID:29022645 | PMID:29395067 | PMID:29507755 |
PMID:29568061 | PMID:29615496 | PMID:29778605 | PMID:29987050 | PMID:30021884 | PMID:30194290 | PMID:30518689 | PMID:30728324 | PMID:31177093 | PMID:31182584 | PMID:31586073 | PMID:31732153 |
PMID:31871319 | PMID:31903676 | PMID:32344865 | PMID:32877691 | PMID:33111431 | PMID:33746040 | PMID:33853758 | PMID:33916271 | PMID:33961781 | PMID:34057271 | PMID:34079125 | PMID:34432599 |
PMID:34591612 | PMID:34597346 | PMID:34642815 | PMID:34702444 | PMID:34709727 | PMID:34882091 | PMID:35256949 | PMID:35384245 | PMID:35439318 | PMID:35844135 | PMID:35896951 | PMID:35914814 |
PMID:36215168 | PMID:36237976 | PMID:36931259 | PMID:37232246 | PMID:37689310 | PMID:37774976 | PMID:37827155 |
TRIP11 (Homo sapiens - human) |
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Trip11 (Mus musculus - house mouse) |
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Trip11 (Rattus norvegicus - Norway rat) |
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Trip11 (Chinchilla lanigera - long-tailed chinchilla) |
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TRIP11 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TRIP11 (Canis lupus familiaris - dog) |
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Trip11 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TRIP11 (Sus scrofa - pig) |
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TRIP11 (Chlorocebus sabaeus - green monkey) |
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Trip11 (Heterocephalus glaber - naked mole-rat) |
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Variants in TRIP11
669 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001087540]|Connective tissue disorder [RCV002279309]|not provided [RCV000729388] | Chr14:91972807 [GRCh38] Chr14:92439151 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NP_004230.2(TRIP11):p.Trp1224Ter | protein only | Achondrogenesis, type IA [RCV000005844] | Chr14:14q31-q32 | pathogenic |
NM_004239.4(TRIP11):c.202-2A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000005845] | Chr14:92025422 [GRCh38] Chr14:92491766 [GRCh37] Chr14:14q32.12 |
pathogenic|likely pathogenic |
NM_004239.4(TRIP11):c.5335G>T (p.Val1779Leu) | single nucleotide variant | not provided [RCV000729436] | Chr14:91976115 [GRCh38] Chr14:92442459 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1184C>T (p.Ser395Phe) | single nucleotide variant | not specified [RCV000603021] | Chr14:92014217 [GRCh38] Chr14:92480561 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.484A>T (p.Met162Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV001302570]|Inborn genetic diseases [RCV003166704] | Chr14:92021660 [GRCh38] Chr14:92488004 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV000005843]|Goldblatt syndrome [RCV000757981] | Chr14:92015729 [GRCh38] Chr14:92482073 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV000005846]|Connective tissue disorder [RCV002276533]|not provided [RCV000725982] | Chr14:92005874 [GRCh38] Chr14:92472218 [GRCh37] Chr14:14q32.12 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 | copy number loss | See cases [RCV000051551] | Chr14:90255156..95274696 [GRCh38] Chr14:90721500..95741033 [GRCh37] Chr14:89791253..94810786 [NCBI36] Chr14:14q32.11-32.13 |
pathogenic |
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 | copy number gain | See cases [RCV000052295] | Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33 |
pathogenic |
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] | Chr14:72787506..99596719 [GRCh38] Chr14:73254214..100063056 [GRCh37] Chr14:72323967..99132809 [NCBI36] Chr14:14q24.2-32.2 |
pathogenic |
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 | copy number gain | See cases [RCV000052294] | Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 | copy number gain | See cases [RCV000052296] | Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
NM_004239.3(TRIP11):c.5791C>T (p.Pro1931Ser) | single nucleotide variant | Malignant melanoma [RCV000070656] | Chr14:91969822 [GRCh38] Chr14:92436166 [GRCh37] Chr14:91505919 [NCBI36] Chr14:14q32.12 |
not provided |
NM_004239.3(TRIP11):c.4669C>A (p.Gln1557Lys) | single nucleotide variant | Malignant melanoma [RCV000062811] | Chr14:91999997 [GRCh38] Chr14:92466341 [GRCh37] Chr14:91536094 [NCBI36] Chr14:14q32.12 |
not provided |
NM_004239.4(TRIP11):c.460C>T (p.Pro154Ser) | single nucleotide variant | not provided [RCV001813021] | Chr14:92021684 [GRCh38] Chr14:92488028 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV001089222]|not provided [RCV000841294]|not specified [RCV000175183] | Chr14:91976152 [GRCh38] Chr14:92442496 [GRCh37] Chr14:14q32.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV000303439]|Goldblatt syndrome [RCV001838554]|not provided [RCV001812154]|not specified [RCV000175447] | Chr14:91974722 [GRCh38] Chr14:92441066 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4519G>A (p.Ala1507Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001333212] | Chr14:92003457 [GRCh38] Chr14:92469801 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3932T>C (p.Ile1311Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001348435]|Inborn genetic diseases [RCV003169709] | Chr14:92004044 [GRCh38] Chr14:92470388 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV000340266]|not provided [RCV000174095] | Chr14:92003913 [GRCh38] Chr14:92470257 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) | single nucleotide variant | Achondrogenesis, type IA [RCV001085934]|Connective tissue disorder [RCV002277346]|Inborn genetic diseases [RCV002516651]|not provided [RCV000724732] | Chr14:91993832 [GRCh38] Chr14:92460176 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.4892+10del | deletion | Achondrogenesis, type IA [RCV002516633]|not provided [RCV000174533] | Chr14:91999230 [GRCh38] Chr14:92465574 [GRCh37] Chr14:14q32.12 |
benign|uncertain significance |
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 | copy number gain | See cases [RCV000134000] | Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 | copy number gain | See cases [RCV000135543] | Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 | copy number gain | See cases [RCV000138230] | Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
NM_004239.4(TRIP11):c.4087A>G (p.Ile1363Val) | single nucleotide variant | not provided [RCV000514830] | Chr14:92003889 [GRCh38] Chr14:92470233 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 | copy number gain | See cases [RCV000143373] | Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
NM_004239.4(TRIP11):c.499A>G (p.Ile167Val) | single nucleotide variant | not provided [RCV000178207] | Chr14:92021645 [GRCh38] Chr14:92487989 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV000684947]|Connective tissue disorder [RCV002277400]|not provided [RCV000178208] | Chr14:92021762 [GRCh38] Chr14:92488106 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) | single nucleotide variant | Achondrogenesis, type IA [RCV000755412]|Connective tissue disorder [RCV002278324]|Inborn genetic diseases [RCV002518149]|not provided [RCV001705435]|not specified [RCV000359112] | Chr14:92004372 [GRCh38] Chr14:92470716 [GRCh37] Chr14:14q32.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.1375G>A (p.Ala459Thr) | single nucleotide variant | Inborn genetic diseases [RCV002533799]|not provided [RCV000756813] | Chr14:92007792 [GRCh38] Chr14:92474136 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.332A>C (p.Lys111Thr) | single nucleotide variant | not provided [RCV000756814] | Chr14:92021812 [GRCh38] Chr14:92488156 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5719+2T>C | single nucleotide variant | Achondrogenesis, type IA [RCV000610429]|not provided [RCV001764723]|not specified [RCV000824805] | Chr14:91972715 [GRCh38] Chr14:92439059 [GRCh37] Chr14:14q32.12 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=) | single nucleotide variant | Achondrogenesis, type IA [RCV000368465] | Chr14:91999356 [GRCh38] Chr14:92465700 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV000266300] | Chr14:92005482 [GRCh38] Chr14:92471826 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*383del | deletion | Achondrogenesis [RCV000267375] | Chr14:91969290 [GRCh38] Chr14:92435634 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*840A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000348926] | Chr14:91968833 [GRCh38] Chr14:92435177 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) | single nucleotide variant | Achondrogenesis, type IA [RCV001079434]|not provided [RCV000731242] | Chr14:92006202 [GRCh38] Chr14:92472546 [GRCh37] Chr14:14q32.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.*1374A>C | single nucleotide variant | Achondrogenesis, type IA [RCV000269921] | Chr14:91968299 [GRCh38] Chr14:92434643 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV000952729]|Connective tissue disorder [RCV002278411]|not specified [RCV000437056] | Chr14:92005325 [GRCh38] Chr14:92471669 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) | single nucleotide variant | Achondrogenesis, type IA [RCV000288620] | Chr14:92003533 [GRCh38] Chr14:92469877 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.*387del | deletion | Achondrogenesis [RCV000273299] | Chr14:91969286 [GRCh38] Chr14:92435630 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.-333G>A | single nucleotide variant | Achondrogenesis, type IA [RCV000353242]|Achondrogenesis, type IA [RCV002480136] | Chr14:92040018 [GRCh38] Chr14:92506362 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) | single nucleotide variant | Achondrogenesis, type IA [RCV000892129]|Achondrogenesis, type IA [RCV002504082]|Connective tissue disorder [RCV002278420]|not specified [RCV000604722] | Chr14:92039579 [GRCh38] Chr14:92505923 [GRCh37] Chr14:14q32.12 |
benign|likely benign|uncertain significance |
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) | single nucleotide variant | Achondrogenesis, type IA [RCV000290540] | Chr14:91969836 [GRCh38] Chr14:92436180 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) | single nucleotide variant | Achondrogenesis, type IA [RCV000972511]|Connective tissue disorder [RCV002278404]|not provided [RCV001812827]|not specified [RCV000611847] | Chr14:92003469 [GRCh38] Chr14:92469813 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.-265C>A | single nucleotide variant | Achondrogenesis, type IA [RCV000310969] | Chr14:92039950 [GRCh38] Chr14:92506294 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) | single nucleotide variant | Achondrogenesis, type IA [RCV000555757]|Connective tissue disorder [RCV002278398]|not provided [RCV001812823]|not specified [RCV000422749] | Chr14:91969832 [GRCh38] Chr14:92436176 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.*163C>T | single nucleotide variant | Achondrogenesis, type IA [RCV000292303]|not provided [RCV001539700] | Chr14:91969510 [GRCh38] Chr14:92435854 [GRCh37] Chr14:14q32.12 |
benign|likely benign|uncertain significance |
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) | single nucleotide variant | Achondrogenesis, type IA [RCV000292242]|Connective tissue disorder [RCV002278415]|not provided [RCV001812829]|not specified [RCV000607343] | Chr14:92006072 [GRCh38] Chr14:92472416 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) | single nucleotide variant | Achondrogenesis, type IA [RCV000704676] | Chr14:92003926 [GRCh38] Chr14:92470270 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV000312673]|Inborn genetic diseases [RCV003165849] | Chr14:92004876 [GRCh38] Chr14:92471220 [GRCh37] Chr14:14q32.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) | single nucleotide variant | Achondrogenesis, type IA [RCV000952726]|Connective tissue disorder [RCV002278407]|not specified [RCV000420511] | Chr14:92004262 [GRCh38] Chr14:92470606 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) | single nucleotide variant | Achondrogenesis, type IA [RCV000276143]|Connective tissue disorder [RCV002278403]|not provided [RCV001812826]|not specified [RCV000434256] | Chr14:91999405 [GRCh38] Chr14:92465749 [GRCh37] Chr14:14q32.12 |
benign|uncertain significance |
NM_004239.4(TRIP11):c.*952A>T | single nucleotide variant | Achondrogenesis, type IA [RCV000278834] | Chr14:91968721 [GRCh38] Chr14:92435065 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) | single nucleotide variant | Achondrogenesis, type IA [RCV000793388] | Chr14:92005739 [GRCh38] Chr14:92472083 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.425C>T (p.Ala142Val) | single nucleotide variant | Achondrogenesis, type IA [RCV000259889] | Chr14:92021719 [GRCh38] Chr14:92488063 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV000277559] | Chr14:92005112 [GRCh38] Chr14:92471456 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) | single nucleotide variant | Achondrogenesis, type IA [RCV000532077]|Connective tissue disorder [RCV002278402]|not provided [RCV001812825]|not specified [RCV000602527] | Chr14:91999320 [GRCh38] Chr14:92465664 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.*312A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000260495] | Chr14:91969361 [GRCh38] Chr14:92435705 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) | single nucleotide variant | Achondrogenesis, type IA [RCV000296490]|not provided [RCV000591240] | Chr14:91969784 [GRCh38] Chr14:92436128 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.-61C>T | single nucleotide variant | Achondrogenesis, type IA [RCV000296157]|not provided [RCV001812833] | Chr14:92039746 [GRCh38] Chr14:92506090 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.-331C>G | single nucleotide variant | Achondrogenesis, type IA [RCV000298371]|not provided [RCV001551024] | Chr14:92040016 [GRCh38] Chr14:92506360 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV000298501]|not provided [RCV001572391] | Chr14:91988352 [GRCh38] Chr14:92454696 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.202-7T>A | single nucleotide variant | Achondrogenesis, type IA [RCV000952731]|Connective tissue disorder [RCV002278419]|not specified [RCV000436320] | Chr14:92025427 [GRCh38] Chr14:92491771 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) | single nucleotide variant | Achondrogenesis, type IA [RCV000390612] | Chr14:91974630 [GRCh38] Chr14:92440974 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV000887814]|Connective tissue disorder [RCV002278406]|not specified [RCV000506817] | Chr14:92003837 [GRCh38] Chr14:92470181 [GRCh37] Chr14:14q32.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys) | single nucleotide variant | Achondrogenesis, type IA [RCV000367502] | Chr14:92014571 [GRCh38] Chr14:92480915 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.823+4A>T | single nucleotide variant | Achondrogenesis, type IA [RCV000263550] | Chr14:92015692 [GRCh38] Chr14:92482036 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*1294A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000264169] | Chr14:91968379 [GRCh38] Chr14:92434723 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.183T>C (p.His61=) | single nucleotide variant | Achondrogenesis, type IA [RCV000320601] | Chr14:92033210 [GRCh38] Chr14:92499554 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) | single nucleotide variant | Achondrogenesis, type IA [RCV000344408] | Chr14:91969802 [GRCh38] Chr14:92436146 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.1191C>G (p.Ala397=) | single nucleotide variant | not provided [RCV000273339] | Chr14:92011791 [GRCh38] Chr14:92478135 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2584A>C (p.Asn862His) | single nucleotide variant | not provided [RCV000302868] | Chr14:92005392 [GRCh38] Chr14:92471736 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV000952730]|Connective tissue disorder [RCV002278412]|not specified [RCV000426820] | Chr14:92005593 [GRCh38] Chr14:92471937 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.-24G>A | single nucleotide variant | Achondrogenesis, type IA [RCV000345286]|not specified [RCV000616164] | Chr14:92039709 [GRCh38] Chr14:92506053 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) | single nucleotide variant | Achondrogenesis, type IA [RCV000968636]|Connective tissue disorder [RCV002278410]|not provided [RCV001812828]|not specified [RCV000420279] | Chr14:92005045 [GRCh38] Chr14:92471389 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV000394299]|Connective tissue disorder [RCV002278400]|not specified [RCV000419970] | Chr14:91988289 [GRCh38] Chr14:92454633 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val) | single nucleotide variant | Achondrogenesis, type IA [RCV000271926] | Chr14:92005266 [GRCh38] Chr14:92471610 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*891A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000282225] | Chr14:91968782 [GRCh38] Chr14:92435126 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) | single nucleotide variant | Achondrogenesis, type IA [RCV000555883]|Connective tissue disorder [RCV002278418]|not provided [RCV001812831]|not specified [RCV000439731] | Chr14:92021739 [GRCh38] Chr14:92488083 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV000962507]|Connective tissue disorder [RCV002278399]|not specified [RCV000428124] | Chr14:91972785 [GRCh38] Chr14:92439129 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) | single nucleotide variant | Achondrogenesis, type IA [RCV000325942] | Chr14:92005147 [GRCh38] Chr14:92471491 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.*345T>C | single nucleotide variant | Achondrogenesis, type IA [RCV000371538]|not provided [RCV001653546] | Chr14:91969328 [GRCh38] Chr14:92435672 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) | single nucleotide variant | Achondrogenesis, type IA [RCV001078472]|Connective tissue disorder [RCV002278405]|not provided [RCV000756810]|not specified [RCV000597547] | Chr14:92003563 [GRCh38] Chr14:92469907 [GRCh37] Chr14:14q32.12 |
benign|likely benign|uncertain significance |
NM_004239.4(TRIP11):c.*1339dup | duplication | Achondrogenesis [RCV000327438] | Chr14:91968333..91968334 [GRCh38] Chr14:92434677..92434678 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) | single nucleotide variant | Achondrogenesis, type IA [RCV000952728]|Connective tissue disorder [RCV002278409]|not specified [RCV000430535] | Chr14:92004858 [GRCh38] Chr14:92471202 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.1527+6A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000968637]|Connective tissue disorder [RCV002278416]|not provided [RCV001812830]|not specified [RCV000445105] | Chr14:92007634 [GRCh38] Chr14:92473978 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001081732]|Achondrogenesis, type IA [RCV002487393]|Connective tissue disorder [RCV002278414]|not provided [RCV000513946]|not specified [RCV000417599] | Chr14:92005842 [GRCh38] Chr14:92472186 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.*246A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000375039] | Chr14:91969427 [GRCh38] Chr14:92435771 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=) | single nucleotide variant | Achondrogenesis, type IA [RCV001086094]|not provided [RCV000388307] | Chr14:92003803 [GRCh38] Chr14:92470147 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.*430A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000308531] | Chr14:91969243 [GRCh38] Chr14:92435587 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) | single nucleotide variant | Achondrogenesis, type IA [RCV000329288]|not provided [RCV001564159] | Chr14:92005309 [GRCh38] Chr14:92471653 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV000352572]|Achondrogenesis, type IA [RCV002494988]|not provided [RCV000441201] | Chr14:92011011 [GRCh38] Chr14:92477355 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*544C>T | single nucleotide variant | Achondrogenesis, type IA [RCV000352762] | Chr14:91969129 [GRCh38] Chr14:92435473 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*100A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000331013] | Chr14:91969573 [GRCh38] Chr14:92435917 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) | single nucleotide variant | Achondrogenesis, type IA [RCV000354648] | Chr14:92021706 [GRCh38] Chr14:92488050 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV000355724]|Connective tissue disorder [RCV002278401]|not provided [RCV001812824]|not specified [RCV000613274] | Chr14:91993883 [GRCh38] Chr14:92460227 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.*1060C>T | single nucleotide variant | Achondrogenesis, type IA [RCV000380370] | Chr14:91968613 [GRCh38] Chr14:92434957 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV000380572] | Chr14:92005619 [GRCh38] Chr14:92471963 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) | single nucleotide variant | Achondrogenesis, type IA [RCV000405477] | Chr14:92004310 [GRCh38] Chr14:92470654 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5574+19C>A | single nucleotide variant | Achondrogenesis, type IA [RCV002059094]|not provided [RCV000358083] | Chr14:91974608 [GRCh38] Chr14:92440952 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_004239.4(TRIP11):c.5937A>G (p.Gln1979=) | single nucleotide variant | not provided [RCV000392733] | Chr14:91969676 [GRCh38] Chr14:92436020 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) | single nucleotide variant | Achondrogenesis, type IA [RCV000952727]|Connective tissue disorder [RCV002278408]|not specified [RCV000438108] | Chr14:92004670 [GRCh38] Chr14:92471014 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV000406125]|Connective tissue disorder [RCV002278417]|not provided [RCV000593586] | Chr14:92011020 [GRCh38] Chr14:92477364 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.1689G>A (p.Lys563=) | single nucleotide variant | Achondrogenesis, type IA [RCV000406532] | Chr14:92006287 [GRCh38] Chr14:92472631 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1186+14G>A | single nucleotide variant | Achondrogenesis, type IA [RCV000312943] | Chr14:92014201 [GRCh38] Chr14:92480545 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.-365C>G | single nucleotide variant | Achondrogenesis, type IA [RCV000358368]|not provided [RCV001590942] | Chr14:92040050 [GRCh38] Chr14:92506394 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.*610A>C | single nucleotide variant | Achondrogenesis, type IA [RCV000313905] | Chr14:91969063 [GRCh38] Chr14:92435407 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.*1744G>A | single nucleotide variant | Achondrogenesis, type IA [RCV000314532] | Chr14:91967929 [GRCh38] Chr14:92434273 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.*930C>T | single nucleotide variant | Achondrogenesis, type IA [RCV000336198] | Chr14:91968743 [GRCh38] Chr14:92435087 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) | single nucleotide variant | Achondrogenesis, type IA [RCV000972512]|Connective tissue disorder [RCV002278413]|not specified [RCV000604317] | Chr14:92005759 [GRCh38] Chr14:92472103 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.*1339del | deletion | Achondrogenesis [RCV000384300] | Chr14:91968334 [GRCh38] Chr14:92434678 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV000893258]|Inborn genetic diseases [RCV003278760]|not specified [RCV000508397] | Chr14:92003817 [GRCh38] Chr14:92470161 [GRCh37] Chr14:14q32.12 |
benign|likely benign|uncertain significance |
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV000384439]|not provided [RCV001812832]|not specified [RCV000434104] | Chr14:92039571 [GRCh38] Chr14:92505915 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.4691A>C (p.Gln1564Pro) | single nucleotide variant | not provided [RCV000261319] | Chr14:91999975 [GRCh38] Chr14:92466319 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV001088960]|Connective tissue disorder [RCV002278312]|not provided [RCV000726133] | Chr14:91974664 [GRCh38] Chr14:92441008 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.-335G>A | single nucleotide variant | Achondrogenesis, type IA [RCV000267811] | Chr14:92040020 [GRCh38] Chr14:92506364 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*290A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000318028] | Chr14:91969383 [GRCh38] Chr14:92435727 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_004239.4(TRIP11):c.*1554T>A | single nucleotide variant | Achondrogenesis, type IA [RCV000362116] | Chr14:91968119 [GRCh38] Chr14:92434463 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.*9C>G | single nucleotide variant | Achondrogenesis, type IA [RCV000387882] | Chr14:91969664 [GRCh38] Chr14:92436008 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001120672]|Connective tissue disorder [RCV002278271]|Inborn genetic diseases [RCV002519114]|not provided [RCV000264098] | Chr14:92014451 [GRCh38] Chr14:92480795 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5051A>G (p.Gln1684Arg) | single nucleotide variant | not provided [RCV000264962] | Chr14:91995357 [GRCh38] Chr14:92461701 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV000364305]|not provided [RCV001770255] | Chr14:92005220 [GRCh38] Chr14:92471564 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) | single nucleotide variant | Achondrogenesis, type IA [RCV001080898]|not provided [RCV000299952] | Chr14:92000046 [GRCh38] Chr14:92466390 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs) | deletion | Achondrogenesis, type IA [RCV000490493] | Chr14:92005475..92005478 [GRCh38] Chr14:92471819..92471822 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV002063835]|not provided [RCV000488927] | Chr14:91969726 [GRCh38] Chr14:92436070 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.*384A>T | single nucleotide variant | Achondrogenesis, type IA [RCV000302667] | Chr14:91969289 [GRCh38] Chr14:92435633 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.-337C>T | single nucleotide variant | Achondrogenesis, type IA [RCV000303531] | Chr14:92040022 [GRCh38] Chr14:92506366 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV000330135] | Chr14:91999352 [GRCh38] Chr14:92465696 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.-58C>T | single nucleotide variant | Achondrogenesis [RCV000381123] | Chr14:92039743 [GRCh38] Chr14:92506087 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*409A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000365566] | Chr14:91969264 [GRCh38] Chr14:92435608 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.-272G>C | single nucleotide variant | Achondrogenesis, type IA [RCV000402648] | Chr14:92039957 [GRCh38] Chr14:92506301 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*628C>T | single nucleotide variant | Achondrogenesis, type IA [RCV000403004] | Chr14:91969045 [GRCh38] Chr14:92435389 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4699-4C>G | single nucleotide variant | Achondrogenesis, type IA [RCV000333579] | Chr14:91999437 [GRCh38] Chr14:92465781 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.-255G>A | single nucleotide variant | Achondrogenesis, type IA [RCV000404779] | Chr14:92039940 [GRCh38] Chr14:92506284 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.-128C>T | single nucleotide variant | Achondrogenesis, type IA [RCV000350626] | Chr14:92039813 [GRCh38] Chr14:92506157 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*1194A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000321666] | Chr14:91968479 [GRCh38] Chr14:92434823 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV000286569] | Chr14:92004192 [GRCh38] Chr14:92470536 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.-267A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000337905] | Chr14:92039952 [GRCh38] Chr14:92506296 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*362C>G | single nucleotide variant | Achondrogenesis, type IA [RCV000323854] | Chr14:91969311 [GRCh38] Chr14:92435655 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*904A>G | single nucleotide variant | Achondrogenesis, type IA [RCV000374461] | Chr14:91968769 [GRCh38] Chr14:92435113 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV000299842] | Chr14:92015833 [GRCh38] Chr14:92482177 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*491A>C | single nucleotide variant | Achondrogenesis, type IA [RCV000395637] | Chr14:91969182 [GRCh38] Chr14:92435526 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*383dup | duplication | Achondrogenesis [RCV000359690] | Chr14:91969289..91969290 [GRCh38] Chr14:92435633..92435634 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5457+13T>A | single nucleotide variant | Achondrogenesis, type IA [RCV000360475] | Chr14:91975159 [GRCh38] Chr14:92441503 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4851G>C (p.Glu1617Asp) | single nucleotide variant | Achondrogenesis, type IA [RCV001120487]|Inborn genetic diseases [RCV003246703] | Chr14:91999281 [GRCh38] Chr14:92465625 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4800G>C (p.Leu1600Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV001120488] | Chr14:91999332 [GRCh38] Chr14:92465676 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His) | single nucleotide variant | Achondrogenesis, type IA [RCV002483613]|Achondrogenesis, type IA [RCV002532488]|not provided [RCV000593250] | Chr14:91999420 [GRCh38] Chr14:92465764 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5085C>T (p.Leu1695=) | single nucleotide variant | not provided [RCV000593601] | Chr14:91993884 [GRCh38] Chr14:92460228 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1159G>T (p.Val387Leu) | single nucleotide variant | not provided [RCV000591103] | Chr14:92014242 [GRCh38] Chr14:92480586 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter) | single nucleotide variant | Goldblatt syndrome [RCV000625982] | Chr14:92005938 [GRCh38] Chr14:92472282 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.5202A>T (p.Ser1734=) | single nucleotide variant | Achondrogenesis, type IA [RCV001120186] | Chr14:91988342 [GRCh38] Chr14:92454686 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV001078613]|not provided [RCV000733957] | Chr14:92006024 [GRCh38] Chr14:92472368 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val) | single nucleotide variant | Goldblatt syndrome [RCV000853511] | Chr14:91975213 [GRCh38] Chr14:92441557 [GRCh37] Chr14:14q32.12 |
pathogenic|likely pathogenic |
NM_004239.4(TRIP11):c.1849GAG[2] (p.Glu619del) | microsatellite | Achondrogenesis, type IA [RCV002067173]|not specified [RCV000734782] | Chr14:92006119..92006121 [GRCh38] Chr14:92472463..92472465 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.660A>G (p.Glu220=) | single nucleotide variant | not provided [RCV000734784] | Chr14:92015859 [GRCh38] Chr14:92482203 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 | copy number gain | See cases [RCV000446256] | Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_004239.4(TRIP11):c.5057-9T>G | single nucleotide variant | Achondrogenesis, type IA [RCV000963313]|not specified [RCV000438297] | Chr14:91993921 [GRCh38] Chr14:92460265 [GRCh37] Chr14:14q32.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_004239.4(TRIP11):c.4500C>T (p.Cys1500=) | single nucleotide variant | Achondrogenesis, type IA [RCV002058940]|not specified [RCV000424576] | Chr14:92003476 [GRCh38] Chr14:92469820 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.5056+11C>T | single nucleotide variant | Achondrogenesis, type IA [RCV001120486]|not specified [RCV000442484] | Chr14:91995341 [GRCh38] Chr14:92461685 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.3264A>G (p.Gln1088=) | single nucleotide variant | Achondrogenesis, type IA [RCV002062791]|not specified [RCV000428500] | Chr14:92004712 [GRCh38] Chr14:92471056 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2305C>G (p.Gln769Glu) | single nucleotide variant | not provided [RCV000438992] | Chr14:92005671 [GRCh38] Chr14:92472015 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=) | single nucleotide variant | Achondrogenesis, type IA [RCV000962347]|not provided [RCV003114543]|not specified [RCV000435877] | Chr14:92004118 [GRCh38] Chr14:92470462 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV000883328]|not provided [RCV001696839] | Chr14:92025405 [GRCh38] Chr14:92491749 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) | single nucleotide variant | Achondrogenesis, type IA [RCV000953690]|not provided [RCV001704517] | Chr14:92021652 [GRCh38] Chr14:92487996 [GRCh37] Chr14:14q32.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 | copy number gain | See cases [RCV000448557] | Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) | copy number gain | See cases [RCV000512041] | Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV000755411]|Connective tissue disorder [RCV002279294]|not provided [RCV001811010]|not specified [RCV000508420] | Chr14:92007650 [GRCh38] Chr14:92473994 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.203A>T (p.Asn68Ile) | single nucleotide variant | Inborn genetic diseases [RCV002524928]|not specified [RCV000506794] | Chr14:92025419 [GRCh38] Chr14:92491763 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5446G>A (p.Glu1816Lys) | single nucleotide variant | not specified [RCV000507312] | Chr14:91975183 [GRCh38] Chr14:92441527 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV001117017]|not provided [RCV000507891] | Chr14:92004105 [GRCh38] Chr14:92470449 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV001089432]|Connective tissue disorder [RCV002279437]|not provided [RCV001811109]|not specified [RCV000601375] | Chr14:91988298 [GRCh38] Chr14:92454642 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) | single nucleotide variant | Achondrogenesis, type IA [RCV001120674]|not specified [RCV000601478] | Chr14:92015765 [GRCh38] Chr14:92482109 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV000538594] | Chr14:91974731 [GRCh38] Chr14:92441075 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) | single nucleotide variant | Achondrogenesis, type IA [RCV000634171]|Inborn genetic diseases [RCV002533189]|not provided [RCV003318610] | Chr14:92014242 [GRCh38] Chr14:92480586 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1172A>C (p.Gln391Pro) | single nucleotide variant | Inborn genetic diseases [RCV003257601] | Chr14:92014229 [GRCh38] Chr14:92480573 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4405G>A (p.Val1469Met) | single nucleotide variant | Achondrogenesis, type IA [RCV001347327]|not provided [RCV000597430] | Chr14:92003571 [GRCh38] Chr14:92469915 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) | single nucleotide variant | Achondrogenesis, type IA [RCV001089383]|Connective tissue disorder [RCV002279434]|not provided [RCV000756812] | Chr14:92004829 [GRCh38] Chr14:92471173 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 | copy number gain | See cases [RCV000512497] | Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33 |
pathogenic |
NM_004239.4(TRIP11):c.4557+1G>T | single nucleotide variant | Goldblatt syndrome [RCV000625983] | Chr14:92003418 [GRCh38] Chr14:92469762 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) | single nucleotide variant | Achondrogenesis, type IA [RCV001088361]|Connective tissue disorder [RCV002279435]|not provided [RCV000756811] | Chr14:92003812 [GRCh38] Chr14:92470156 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV000634172] | Chr14:92006429 [GRCh38] Chr14:92472773 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=) | single nucleotide variant | Achondrogenesis, type IA [RCV002060723] | Chr14:91988375 [GRCh38] Chr14:92454719 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.2467_2470del (p.Arg823fs) | microsatellite | Achondrogenesis, type IA [RCV002534290]|not provided [RCV000658468] | Chr14:92005506..92005509 [GRCh38] Chr14:92471850..92471853 [GRCh37] Chr14:14q32.12 |
pathogenic|likely pathogenic |
NM_004239.4(TRIP11):c.2735T>G (p.Ile912Ser) | single nucleotide variant | not provided [RCV000658386] | Chr14:92005241 [GRCh38] Chr14:92471585 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 | copy number loss | not provided [RCV000683625] | Chr14:84783137..96908198 [GRCh37] Chr14:14q31.2-32.2 |
pathogenic |
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV000704268] | Chr14:91993820 [GRCh38] Chr14:92460164 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.617_618del (p.Asn205_Ser206insTer) | microsatellite | Achondrogenesis, type IA [RCV000704735] | Chr14:92017721..92017722 [GRCh38] Chr14:92484065..92484066 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV000707638] | Chr14:92005419 [GRCh38] Chr14:92471763 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) | deletion | Achondrogenesis, type IA [RCV000702579] | Chr14:92004623..92004624 [GRCh38] Chr14:92470967..92470968 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV000693887] | Chr14:92011020 [GRCh38] Chr14:92477364 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV000692866]|Inborn genetic diseases [RCV002532226] | Chr14:92011029 [GRCh38] Chr14:92477373 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV000687865] | Chr14:92011035 [GRCh38] Chr14:92477379 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys) | single nucleotide variant | Achondrogenesis, type IA [RCV000707675] | Chr14:91974722 [GRCh38] Chr14:92441066 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV000703252] | Chr14:92005838 [GRCh38] Chr14:92472182 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1315-191C>T | single nucleotide variant | not provided [RCV001567481] | Chr14:92008043 [GRCh38] Chr14:92474387 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5160+59A>G | single nucleotide variant | not provided [RCV001585905]|not specified [RCV001000361] | Chr14:91993750 [GRCh38] Chr14:92460094 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.2993_2994del (p.Lys998fs) | deletion | Goldblatt syndrome [RCV000757983] | Chr14:92004982..92004983 [GRCh38] Chr14:92471326..92471327 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter) | single nucleotide variant | Goldblatt syndrome [RCV000853510] | Chr14:92003442 [GRCh38] Chr14:92469786 [GRCh37] Chr14:14q32.12 |
pathogenic|likely pathogenic |
NM_004239.4(TRIP11):c.5056+223T>C | single nucleotide variant | not provided [RCV001546557] | Chr14:91995129 [GRCh38] Chr14:92461473 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2304_2307del (p.Asn768fs) | microsatellite | Achondrogenesis, type IA [RCV000757991] | Chr14:92005669..92005672 [GRCh38] Chr14:92472013..92472016 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.139+218A>G | single nucleotide variant | not provided [RCV001546185] | Chr14:92039329 [GRCh38] Chr14:92505673 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5575-182_5575-179dup | duplication | not provided [RCV001540518] | Chr14:91973025..91973026 [GRCh38] Chr14:92439369..92439370 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4815_4818del (p.Glu1606fs) | microsatellite | Goldblatt syndrome [RCV000757986] | Chr14:91999314..91999317 [GRCh38] Chr14:92465658..92465661 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs) | deletion | Achondrogenesis, type IA [RCV000757989]|Goldblatt syndrome [RCV000757988] | Chr14:92005847..92005848 [GRCh38] Chr14:92472191..92472192 [GRCh37] Chr14:14q32.12 |
pathogenic |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 | copy number gain | not provided [RCV000738412] | Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 | copy number gain | not provided [RCV000738413] | Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 | copy number gain | not provided [RCV000738414] | Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_004239.4(TRIP11):c.5458-43del | deletion | not provided [RCV001608771] | Chr14:91974786 [GRCh38] Chr14:92441130 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1227+271del | deletion | not provided [RCV001609605] | Chr14:92011484 [GRCh38] Chr14:92477828 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5574+65C>G | single nucleotide variant | not provided [RCV001681331] | Chr14:91974562 [GRCh38] Chr14:92440906 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV000778421]|Goldblatt syndrome [RCV000853509] | Chr14:92021558 [GRCh38] Chr14:92487902 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_004239.4(TRIP11):c.210G>A (p.Arg70=) | single nucleotide variant | Achondrogenesis, type IA [RCV001450787] | Chr14:92025412 [GRCh38] Chr14:92491756 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5260+24T>C | single nucleotide variant | Achondrogenesis, type IA [RCV001838680]|Goldblatt syndrome [RCV001838681]|not provided [RCV001535319] | Chr14:91988260 [GRCh38] Chr14:92454604 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5575-203G>A | single nucleotide variant | not provided [RCV001585458] | Chr14:91973064 [GRCh38] Chr14:92439408 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1622del (p.Lys541fs) | deletion | Goldblatt syndrome [RCV000757990] | Chr14:92006354 [GRCh38] Chr14:92472698 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr) | single nucleotide variant | Goldblatt syndrome [RCV000853508] | Chr14:92011072 [GRCh38] Chr14:92477416 [GRCh37] Chr14:14q32.12 |
pathogenic|likely pathogenic |
NM_004239.4(TRIP11):c.823+77C>G | single nucleotide variant | not provided [RCV001571195] | Chr14:92015619 [GRCh38] Chr14:92481963 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5160+310_5160+311dup | duplication | not provided [RCV001571287] | Chr14:91993476..91993477 [GRCh38] Chr14:92459820..92459821 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.202-97_202-96insGCG | insertion | not provided [RCV001550764] | Chr14:92025516..92025517 [GRCh38] Chr14:92491860..92491861 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5720-73A>G | single nucleotide variant | not provided [RCV001577033] | Chr14:91969966 [GRCh38] Chr14:92436310 [GRCh37] Chr14:14q32.12 |
likely benign |
GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1 | copy number loss | not provided [RCV003312295] | Chr14:88401076..94725706 [GRCh37] Chr14:14q31.3-32.13 |
pathogenic |
NM_004239.4(TRIP11):c.312+102del | deletion | not provided [RCV001580941] | Chr14:92025208 [GRCh38] Chr14:92491552 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.657+9A>C | single nucleotide variant | Achondrogenesis, type IA [RCV001115753] | Chr14:92017673 [GRCh38] Chr14:92484017 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.1227+246dup | duplication | not provided [RCV001609262] | Chr14:92011483..92011484 [GRCh38] Chr14:92477827..92477828 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1315-296G>T | single nucleotide variant | not provided [RCV001567923] | Chr14:92008148 [GRCh38] Chr14:92474492 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4558-270G>A | single nucleotide variant | not provided [RCV001549696] | Chr14:92000378 [GRCh38] Chr14:92466722 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.140-214G>A | single nucleotide variant | not provided [RCV001644395] | Chr14:92033467 [GRCh38] Chr14:92499811 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4558-256A>G | single nucleotide variant | not provided [RCV001583229] | Chr14:92000364 [GRCh38] Chr14:92466708 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) | single nucleotide variant | Achondrogenesis, type IA [RCV000885235] | Chr14:91988305 [GRCh38] Chr14:92454649 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2622A>G (p.Glu874=) | single nucleotide variant | not provided [RCV000925038] | Chr14:92005354 [GRCh38] Chr14:92471698 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2382C>T (p.Asp794=) | single nucleotide variant | Achondrogenesis, type IA [RCV000902723]|not provided [RCV003392684] | Chr14:92005594 [GRCh38] Chr14:92471938 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1146A>G (p.Ala382=) | single nucleotide variant | Achondrogenesis, type IA [RCV001120670]|not provided [RCV000880813] | Chr14:92014255 [GRCh38] Chr14:92480599 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_004239.4(TRIP11):c.5160+55G>T | single nucleotide variant | not provided [RCV001643392] | Chr14:91993754 [GRCh38] Chr14:92460098 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5334A>G (p.Lys1778=) | single nucleotide variant | Achondrogenesis, type IA [RCV002067608]|not provided [RCV000995242] | Chr14:91976116 [GRCh38] Chr14:92442460 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_004239.4(TRIP11):c.4967C>T (p.Ala1656Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001043585] | Chr14:91995441 [GRCh38] Chr14:92461785 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3477del (p.Gln1160fs) | deletion | Achondrogenesis, type IA [RCV001051530] | Chr14:92004499 [GRCh38] Chr14:92470843 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.5720-5T>G | single nucleotide variant | Achondrogenesis, type IA [RCV001037881] | Chr14:91969898 [GRCh38] Chr14:92436242 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.988_989del (p.Asp330fs) | microsatellite | Achondrogenesis, type IA [RCV000802803] | Chr14:92014412..92014413 [GRCh38] Chr14:92480756..92480757 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.140-259C>T | single nucleotide variant | not provided [RCV000826550] | Chr14:92033512 [GRCh38] Chr14:92499856 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV000810999] | Chr14:92004606 [GRCh38] Chr14:92470950 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs) | microsatellite | Achondrogenesis, type IA [RCV000778420]|not provided [RCV001784384] | Chr14:92006035..92006038 [GRCh38] Chr14:92472379..92472382 [GRCh37] Chr14:14q32.12 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.2226C>T (p.Thr742=) | single nucleotide variant | Achondrogenesis, type IA [RCV002068656] | Chr14:92005750 [GRCh38] Chr14:92472094 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3547T>C (p.Leu1183=) | single nucleotide variant | Achondrogenesis, type IA [RCV002540202] | Chr14:92004429 [GRCh38] Chr14:92470773 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.831T>G (p.Ser277=) | single nucleotide variant | not provided [RCV000917993] | Chr14:92014570 [GRCh38] Chr14:92480914 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=) | single nucleotide variant | Achondrogenesis, type IA [RCV001117015] | Chr14:92003848 [GRCh38] Chr14:92470192 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.201+188A>C | single nucleotide variant | not provided [RCV000831336] | Chr14:92033004 [GRCh38] Chr14:92499348 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) | single nucleotide variant | Achondrogenesis, type IA [RCV001087116]|Connective tissue disorder [RCV002279560]|not provided [RCV000842240] | Chr14:91995398 [GRCh38] Chr14:92461742 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV000795200]|Inborn genetic diseases [RCV002536996] | Chr14:92039625 [GRCh38] Chr14:92505969 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1187-59T>C | single nucleotide variant | not provided [RCV000834427] | Chr14:92011854 [GRCh38] Chr14:92478198 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4834_4837del (p.Lys1612fs) | microsatellite | Achondrogenesis, type IA [RCV000825550] | Chr14:91999295..91999298 [GRCh38] Chr14:92465639..92465642 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.4558-273A>G | single nucleotide variant | not provided [RCV000832344] | Chr14:92000381 [GRCh38] Chr14:92466725 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV000802753] | Chr14:92003846 [GRCh38] Chr14:92470190 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5160+195G>A | single nucleotide variant | not provided [RCV000826581] | Chr14:91993614 [GRCh38] Chr14:92459958 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1527+7C>G | single nucleotide variant | Achondrogenesis, type IA [RCV000891974] | Chr14:92007633 [GRCh38] Chr14:92473977 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3384C>T (p.Ala1128=) | single nucleotide variant | not provided [RCV000830430] | Chr14:92004592 [GRCh38] Chr14:92470936 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.2(TRIP11):c.-554A>G | single nucleotide variant | not provided [RCV000826532] | Chr14:92040239 [GRCh38] Chr14:92506583 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4698+201G>A | single nucleotide variant | not provided [RCV000826559] | Chr14:91999767 [GRCh38] Chr14:92466111 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4558-46GT[6] | microsatellite | not provided [RCV000835284] | Chr14:92000141..92000142 [GRCh38] Chr14:92466485..92466486 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4893-186G>A | single nucleotide variant | not provided [RCV000830436] | Chr14:91995701 [GRCh38] Chr14:92462045 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5056+287_5056+289del | microsatellite | not provided [RCV000826563] | Chr14:91995063..91995065 [GRCh38] Chr14:92461407..92461409 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV000817635] | Chr14:92005599 [GRCh38] Chr14:92471943 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV000824231]|Inborn genetic diseases [RCV003259000] | Chr14:92025399 [GRCh38] Chr14:92491743 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.139+291G>T | single nucleotide variant | not provided [RCV000826533] | Chr14:92039256 [GRCh38] Chr14:92505600 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4893-203G>A | single nucleotide variant | not provided [RCV000826561] | Chr14:91995718 [GRCh38] Chr14:92462062 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV001115487] | Chr14:91972806 [GRCh38] Chr14:92439150 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001118737]|Inborn genetic diseases [RCV003283987] | Chr14:92007735 [GRCh38] Chr14:92474079 [GRCh37] Chr14:14q32.12 |
benign|likely benign|uncertain significance |
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=) | single nucleotide variant | Achondrogenesis, type IA [RCV001115581] | Chr14:92003770 [GRCh38] Chr14:92470114 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.2741A>C (p.His914Pro) | single nucleotide variant | Achondrogenesis, type IA [RCV001115670] | Chr14:92005235 [GRCh38] Chr14:92471579 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5469C>T (p.Asp1823=) | single nucleotide variant | Achondrogenesis, type IA [RCV001116904] | Chr14:91974732 [GRCh38] Chr14:92441076 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.824-126T>G | single nucleotide variant | not provided [RCV000826555] | Chr14:92014703 [GRCh38] Chr14:92481047 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5160+230del | deletion | not provided [RCV000826582] | Chr14:91993579 [GRCh38] Chr14:92459923 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.3413A>G (p.Asp1138Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV001118645] | Chr14:92004563 [GRCh38] Chr14:92470907 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5449A>T (p.Met1817Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV001116905] | Chr14:91975180 [GRCh38] Chr14:92441524 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1528-145T>C | single nucleotide variant | not provided [RCV000830429] | Chr14:92006593 [GRCh38] Chr14:92472937 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=) | single nucleotide variant | Achondrogenesis, type IA [RCV001120382]|not provided [RCV000895196] | Chr14:91969724 [GRCh38] Chr14:92436068 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.140-251C>T | single nucleotide variant | not provided [RCV000826552] | Chr14:92033504 [GRCh38] Chr14:92499848 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.589-133A>G | single nucleotide variant | not provided [RCV000826553] | Chr14:92017883 [GRCh38] Chr14:92484227 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1314+162T>C | single nucleotide variant | not provided [RCV000826557] | Chr14:92010824 [GRCh38] Chr14:92477168 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5575-250G>A | single nucleotide variant | not provided [RCV000826583] | Chr14:91973111 [GRCh38] Chr14:92439455 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5719+314T>C | single nucleotide variant | not provided [RCV000826587] | Chr14:91972403 [GRCh38] Chr14:92438747 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV000806460] | Chr14:92005373 [GRCh38] Chr14:92471717 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001120188]|Connective tissue disorder [RCV002279562]|not provided [RCV000842729] | Chr14:91993844 [GRCh38] Chr14:92460188 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_004239.4(TRIP11):c.-349T>G | single nucleotide variant | Achondrogenesis, type IA [RCV001120773] | Chr14:92040034 [GRCh38] Chr14:92506378 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV001064905] | Chr14:92003588 [GRCh38] Chr14:92469932 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*162G>T | single nucleotide variant | Achondrogenesis, type IA [RCV001120380] | Chr14:91969511 [GRCh38] Chr14:92435855 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1663A>G (p.Lys555Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV001118736] | Chr14:92006313 [GRCh38] Chr14:92472657 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*749G>A | single nucleotide variant | Achondrogenesis, type IA [RCV001115392] | Chr14:91968924 [GRCh38] Chr14:92435268 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001115486]|not provided [RCV001811664] | Chr14:91972779 [GRCh38] Chr14:92439123 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*297A>G | single nucleotide variant | Achondrogenesis, type IA [RCV001120070] | Chr14:91969376 [GRCh38] Chr14:92435720 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*288C>A | single nucleotide variant | Achondrogenesis, type IA [RCV001120071]|not provided [RCV001558896] | Chr14:91969385 [GRCh38] Chr14:92435729 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.*273A>C | single nucleotide variant | Achondrogenesis, type IA [RCV001120072] | Chr14:91969400 [GRCh38] Chr14:92435744 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV001043584] | Chr14:92003771 [GRCh38] Chr14:92470115 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys) | single nucleotide variant | Achondrogenesis, type IA [RCV001233425]|Goldblatt syndrome [RCV003448379] | Chr14:91999406 [GRCh38] Chr14:92465750 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV001223520] | Chr14:92003646 [GRCh38] Chr14:92469990 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV001242209]|Inborn genetic diseases [RCV003294136] | Chr14:92006039 [GRCh38] Chr14:92472383 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV000853520] | Chr14:92003849 [GRCh38] Chr14:92470193 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV000853512] | Chr14:92004498 [GRCh38] Chr14:92470842 [GRCh37] Chr14:14q32.12 |
pathogenic |
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 | copy number gain | not provided [RCV000848687] | Chr14:91969028..107285437 [GRCh37] Chr14:14q32.12-32.33 |
pathogenic |
NM_004239.4(TRIP11):c.1715A>G (p.Asn572Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV001118735] | Chr14:92006261 [GRCh38] Chr14:92472605 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.-98C>T | single nucleotide variant | Achondrogenesis, type IA [RCV001118814] | Chr14:92039783 [GRCh38] Chr14:92506127 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1935A>G (p.Lys645=) | single nucleotide variant | Achondrogenesis, type IA [RCV001117092] | Chr14:92006041 [GRCh38] Chr14:92472385 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1897C>A (p.Gln633Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001117093]|Inborn genetic diseases [RCV003259101] | Chr14:92006079 [GRCh38] Chr14:92472423 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV003106471] | Chr14:91969728 [GRCh38] Chr14:92436072 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5343-314T>C | single nucleotide variant | Goldblatt syndrome [RCV003232035] | Chr14:91975600 [GRCh38] Chr14:92441944 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2395A>G (p.Ser799Gly) | single nucleotide variant | Autism spectrum disorder [RCV003127263] | Chr14:92005581 [GRCh38] Chr14:92471925 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5056+90G>A | single nucleotide variant | not provided [RCV001576034] | Chr14:91995262 [GRCh38] Chr14:92461606 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV002072031]|not provided [RCV001550030] | Chr14:92006387 [GRCh38] Chr14:92472731 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity |
NM_004239.4(TRIP11):c.4893-229A>C | single nucleotide variant | not provided [RCV001581510] | Chr14:91995744 [GRCh38] Chr14:92462088 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1228-116T>A | single nucleotide variant | not provided [RCV001548588] | Chr14:92011188 [GRCh38] Chr14:92477532 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.877dup (p.Thr293fs) | duplication | Achondrogenesis, type IA [RCV003106837] | Chr14:92014523..92014524 [GRCh38] Chr14:92480867..92480868 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.5575-182dup | duplication | not provided [RCV001650616] | Chr14:91973025..91973026 [GRCh38] Chr14:92439369..92439370 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5720-279A>G | single nucleotide variant | not provided [RCV001610234] | Chr14:91970172 [GRCh38] Chr14:92436516 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5342+75A>G | single nucleotide variant | not provided [RCV001555068] | Chr14:91976033 [GRCh38] Chr14:92442377 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4893-213C>T | single nucleotide variant | not provided [RCV001555534] | Chr14:91995728 [GRCh38] Chr14:92462072 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5261-211T>A | single nucleotide variant | not provided [RCV001560887] | Chr14:91976400 [GRCh38] Chr14:92442744 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5574+85T>A | single nucleotide variant | not provided [RCV001715773] | Chr14:91974542 [GRCh38] Chr14:92440886 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.589-299C>T | single nucleotide variant | not provided [RCV001561385] | Chr14:92018049 [GRCh38] Chr14:92484393 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5720-72_5720-69dup | duplication | not provided [RCV001598582] | Chr14:91969961..91969962 [GRCh38] Chr14:92436305..92436306 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5575-165del | deletion | not provided [RCV001684989] | Chr14:91973026 [GRCh38] Chr14:92439370 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1187-218_1187-217del | deletion | not provided [RCV001696119] | Chr14:92012012..92012013 [GRCh38] Chr14:92478356..92478357 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5574+86A>T | single nucleotide variant | not provided [RCV001715956] | Chr14:91974541 [GRCh38] Chr14:92440885 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4558-46GT[8] | microsatellite | not provided [RCV001716077] | Chr14:92000140..92000141 [GRCh38] Chr14:92466484..92466485 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1186+48T>G | single nucleotide variant | not provided [RCV001716078] | Chr14:92014167 [GRCh38] Chr14:92480511 [GRCh37] Chr14:14q32.12 |
benign |
NC_000014.9:g.92040353G>A | single nucleotide variant | not provided [RCV001562518] | Chr14:92040353 [GRCh38] Chr14:92506697 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4557+297T>C | single nucleotide variant | not provided [RCV001615813] | Chr14:92003122 [GRCh38] Chr14:92469466 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4558-187A>G | single nucleotide variant | not provided [RCV001589388] | Chr14:92000295 [GRCh38] Chr14:92466639 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5343-136A>G | single nucleotide variant | not provided [RCV001667491] | Chr14:91975422 [GRCh38] Chr14:92441766 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.202-79G>A | single nucleotide variant | not provided [RCV001586617] | Chr14:92025499 [GRCh38] Chr14:92491843 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5575-64T>G | single nucleotide variant | not provided [RCV001587881] | Chr14:91972925 [GRCh38] Chr14:92439269 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1227+36A>G | single nucleotide variant | not provided [RCV001590817] | Chr14:92011719 [GRCh38] Chr14:92478063 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.823+204G>A | single nucleotide variant | not provided [RCV001546572] | Chr14:92015492 [GRCh38] Chr14:92481836 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5161-21T>A | single nucleotide variant | not provided [RCV001686466] | Chr14:91988404 [GRCh38] Chr14:92454748 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.201+27T>C | single nucleotide variant | not provided [RCV001559415] | Chr14:92033165 [GRCh38] Chr14:92499509 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5719+261C>A | single nucleotide variant | not provided [RCV001559747] | Chr14:91972456 [GRCh38] Chr14:92438800 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5057-146G>A | single nucleotide variant | not provided [RCV001684051] | Chr14:91994058 [GRCh38] Chr14:92460402 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV000853519]|not provided [RCV001597222] | Chr14:92004014 [GRCh38] Chr14:92470358 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV000853513] | Chr14:92004305 [GRCh38] Chr14:92470649 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.189C>T (p.Ile63=) | single nucleotide variant | not provided [RCV000920022] | Chr14:92033204 [GRCh38] Chr14:92499548 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4608G>A (p.Gln1536=) | single nucleotide variant | Achondrogenesis, type IA [RCV002540773] | Chr14:92000058 [GRCh38] Chr14:92466402 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.477C>T (p.Asp159=) | single nucleotide variant | Achondrogenesis, type IA [RCV001115755] | Chr14:92021667 [GRCh38] Chr14:92488011 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV000888578]|not provided [RCV001593124] | Chr14:92003907 [GRCh38] Chr14:92470251 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity |
NM_004239.4(TRIP11):c.3078A>G (p.Lys1026=) | single nucleotide variant | Achondrogenesis, type IA [RCV001448755] | Chr14:92004898 [GRCh38] Chr14:92471242 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4557+243T>G | single nucleotide variant | not provided [RCV001537462] | Chr14:92003176 [GRCh38] Chr14:92469520 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV001223435] | Chr14:92010988 [GRCh38] Chr14:92477332 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*1185G>A | single nucleotide variant | Achondrogenesis, type IA [RCV001120279] | Chr14:91968488 [GRCh38] Chr14:92434832 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*938A>G | single nucleotide variant | Achondrogenesis, type IA [RCV001115391] | Chr14:91968735 [GRCh38] Chr14:92435079 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*664C>T | single nucleotide variant | Achondrogenesis, type IA [RCV001115393] | Chr14:91969009 [GRCh38] Chr14:92435353 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=) | single nucleotide variant | Achondrogenesis, type IA [RCV001115488] | Chr14:91972829 [GRCh38] Chr14:92439173 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.506C>T (p.Ser169Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV001115754] | Chr14:92021638 [GRCh38] Chr14:92487982 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.824-15G>C | single nucleotide variant | Achondrogenesis, type IA [RCV001120673] | Chr14:92014592 [GRCh38] Chr14:92480936 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV001117016] | Chr14:92003914 [GRCh38] Chr14:92470258 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.202-11T>G | single nucleotide variant | Achondrogenesis, type IA [RCV001117187] | Chr14:92025431 [GRCh38] Chr14:92491775 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.3880A>G (p.Ser1294Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV001243899] | Chr14:92004096 [GRCh38] Chr14:92470440 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.81dup (p.Gly28fs) | duplication | Achondrogenesis, type IA [RCV001244068] | Chr14:92039604..92039605 [GRCh38] Chr14:92505948..92505949 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1493A>T (p.Glu498Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001228094] | Chr14:92007674 [GRCh38] Chr14:92474018 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3759T>G (p.Val1253=) | single nucleotide variant | not provided [RCV000913614] | Chr14:92004217 [GRCh38] Chr14:92470561 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.783T>C (p.Tyr261=) | single nucleotide variant | Achondrogenesis, type IA [RCV000911224] | Chr14:92015736 [GRCh38] Chr14:92482080 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.42G>A (p.Gln14=) | single nucleotide variant | Achondrogenesis, type IA [RCV001478177] | Chr14:92039644 [GRCh38] Chr14:92505988 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4722A>G (p.Glu1574=) | single nucleotide variant | not provided [RCV000912995] | Chr14:91999410 [GRCh38] Chr14:92465754 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5720-70_5720-69insTATG | insertion | not provided [RCV001541236] | Chr14:91969962..91969963 [GRCh38] Chr14:92436306..92436307 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.588+166_588+167del | deletion | not provided [RCV001656660] | Chr14:92021389..92021390 [GRCh38] Chr14:92487733..92487734 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.202-96_202-95insT | insertion | not provided [RCV001718452] | Chr14:92025515..92025516 [GRCh38] Chr14:92491859..92491860 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1528-212C>G | single nucleotide variant | not provided [RCV001562404] | Chr14:92006660 [GRCh38] Chr14:92473004 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5056+198T>G | single nucleotide variant | not provided [RCV001562483] | Chr14:91995154 [GRCh38] Chr14:92461498 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5720-289C>T | single nucleotide variant | not provided [RCV001567302] | Chr14:91970182 [GRCh38] Chr14:92436526 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1227+169A>T | single nucleotide variant | not provided [RCV001551414] | Chr14:92011586 [GRCh38] Chr14:92477930 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5574+85_5574+86insG | insertion | not provided [RCV001562819] | Chr14:91974541..91974542 [GRCh38] Chr14:92440885..92440886 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1227+309C>T | single nucleotide variant | not provided [RCV001562893] | Chr14:92011446 [GRCh38] Chr14:92477790 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5574+232A>G | single nucleotide variant | not provided [RCV001558553] | Chr14:91974395 [GRCh38] Chr14:92440739 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1315-234G>A | single nucleotide variant | not provided [RCV001552508] | Chr14:92008086 [GRCh38] Chr14:92474430 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5057-48T>C | single nucleotide variant | not provided [RCV001581943] | Chr14:91993960 [GRCh38] Chr14:92460304 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5458-190G>A | single nucleotide variant | not provided [RCV001655986] | Chr14:91974933 [GRCh38] Chr14:92441277 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.2871C>G (p.Leu957=) | single nucleotide variant | not provided [RCV001552800] | Chr14:92005105 [GRCh38] Chr14:92471449 [GRCh37] Chr14:14q32.12 |
likely benign |
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 | copy number gain | not provided [RCV002472581] | Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33 |
pathogenic |
NM_004239.4(TRIP11):c.5720-26G>A | single nucleotide variant | not provided [RCV001593940] | Chr14:91969919 [GRCh38] Chr14:92436263 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.948A>C (p.Lys316Asn) | single nucleotide variant | Connective tissue disorder [RCV002276780]|not provided [RCV001553122] | Chr14:92014453 [GRCh38] Chr14:92480797 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5575-182_5575-181dup | duplication | not provided [RCV001553337] | Chr14:91973025..91973026 [GRCh38] Chr14:92439369..92439370 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4892+265C>G | single nucleotide variant | not provided [RCV001555301] | Chr14:91998975 [GRCh38] Chr14:92465319 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5575-321G>A | single nucleotide variant | not provided [RCV001560727] | Chr14:91973182 [GRCh38] Chr14:92439526 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.658-311T>A | single nucleotide variant | not provided [RCV001596721] | Chr14:92016172 [GRCh38] Chr14:92482516 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5260+178C>T | single nucleotide variant | not provided [RCV001569182] | Chr14:91988106 [GRCh38] Chr14:92454450 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4893-63CTT[2] | microsatellite | not provided [RCV001556470] | Chr14:91995570..91995572 [GRCh38] Chr14:92461914..92461916 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5269C>T (p.Arg1757Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV002471392] | Chr14:91976181 [GRCh38] Chr14:92442525 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.824-21T>G | single nucleotide variant | not provided [RCV001619488] | Chr14:92014598 [GRCh38] Chr14:92480942 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1314+86T>C | single nucleotide variant | not provided [RCV001593820] | Chr14:92010900 [GRCh38] Chr14:92477244 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5575-223C>T | single nucleotide variant | not provided [RCV001593969] | Chr14:91973084 [GRCh38] Chr14:92439428 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5719+148_5719+168del | microsatellite | not provided [RCV001589554] | Chr14:91972549..91972569 [GRCh38] Chr14:92438893..92438913 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.823+111C>T | single nucleotide variant | not provided [RCV001696588] | Chr14:92015585 [GRCh38] Chr14:92481929 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5342+193G>A | single nucleotide variant | not provided [RCV001598045] | Chr14:91975915 [GRCh38] Chr14:92442259 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5160+332del | deletion | not provided [RCV001670523] | Chr14:91993477 [GRCh38] Chr14:92459821 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4557+320G>A | single nucleotide variant | not provided [RCV001588128] | Chr14:92003099 [GRCh38] Chr14:92469443 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4893-105del | deletion | not provided [RCV001678218] | Chr14:91995620 [GRCh38] Chr14:92461964 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.658-49A>G | single nucleotide variant | not provided [RCV001595243] | Chr14:92015910 [GRCh38] Chr14:92482254 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4892+238T>C | single nucleotide variant | not provided [RCV001659035] | Chr14:91999002 [GRCh38] Chr14:92465346 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.*1591G>T | single nucleotide variant | Achondrogenesis, type IA [RCV001119979] | Chr14:91968082 [GRCh38] Chr14:92434426 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*1212C>T | single nucleotide variant | Achondrogenesis, type IA [RCV001120278] | Chr14:91968461 [GRCh38] Chr14:92434805 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3120A>G (p.Ile1040Met) | single nucleotide variant | Achondrogenesis, type IA [RCV001120587]|Inborn genetic diseases [RCV002556590] | Chr14:92004856 [GRCh38] Chr14:92471200 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.588+167del | deletion | not provided [RCV001667813] | Chr14:92021389 [GRCh38] Chr14:92487733 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5197G>A (p.Ala1733Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001120187] | Chr14:91988347 [GRCh38] Chr14:92454691 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5160+93del | deletion | not provided [RCV001567949] | Chr14:91993716 [GRCh38] Chr14:92460060 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.*1175C>G | single nucleotide variant | Achondrogenesis, type IA [RCV001120280] | Chr14:91968498 [GRCh38] Chr14:92434842 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*107C>T | single nucleotide variant | Achondrogenesis, type IA [RCV001120381] | Chr14:91969566 [GRCh38] Chr14:92435910 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5160+310dup | duplication | not provided [RCV001708474] | Chr14:91993476..91993477 [GRCh38] Chr14:92459820..92459821 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.589-173G>A | single nucleotide variant | not provided [RCV001586552] | Chr14:92017923 [GRCh38] Chr14:92484267 [GRCh37] Chr14:14q32.12 |
likely benign |
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 | copy number loss | Deletion syndrome [RCV001004048] | Chr14:84783523..96907490 [GRCh37] Chr14:14q31.2-32.2 |
pathogenic |
NM_004239.4(TRIP11):c.5720-343C>T | single nucleotide variant | not provided [RCV001667747] | Chr14:91970236 [GRCh38] Chr14:92436580 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5720-176A>G | single nucleotide variant | not provided [RCV001694276] | Chr14:91970069 [GRCh38] Chr14:92436413 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4893-264G>T | single nucleotide variant | not provided [RCV001692611] | Chr14:91995779 [GRCh38] Chr14:92462123 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5342+282T>A | single nucleotide variant | not provided [RCV001565746] | Chr14:91975826 [GRCh38] Chr14:92442170 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5574+24T>C | single nucleotide variant | not provided [RCV001685627] | Chr14:91974603 [GRCh38] Chr14:92440947 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1227+246_1227+247dup | duplication | not provided [RCV001713937] | Chr14:92011483..92011484 [GRCh38] Chr14:92477827..92477828 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.9C>T (p.Ser3=) | single nucleotide variant | Achondrogenesis, type IA [RCV001117188] | Chr14:92039677 [GRCh38] Chr14:92506021 [GRCh37] Chr14:14q32.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004239.4(TRIP11):c.1587C>T (p.Ile529=) | single nucleotide variant | Achondrogenesis, type IA [RCV001463973]|not specified [RCV001001074] | Chr14:92006389 [GRCh38] Chr14:92472733 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.*1521G>A | single nucleotide variant | Achondrogenesis, type IA [RCV001119980] | Chr14:91968152 [GRCh38] Chr14:92434496 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4760A>G (p.His1587Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV001120489] | Chr14:91999372 [GRCh38] Chr14:92465716 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.998G>A (p.Arg333Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001120671] | Chr14:92014403 [GRCh38] Chr14:92480747 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.*387C>A | single nucleotide variant | Achondrogenesis, type IA [RCV001118543] | Chr14:91969286 [GRCh38] Chr14:92435630 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.3743A>G (p.Gln1248Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV001118644]|Inborn genetic diseases [RCV003259103] | Chr14:92004233 [GRCh38] Chr14:92470577 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4649T>C (p.Met1550Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001115580] | Chr14:92000017 [GRCh38] Chr14:92466361 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001242515]|Inborn genetic diseases [RCV002549133]|not specified [RCV001000427] | Chr14:92004596 [GRCh38] Chr14:92470940 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.586C>G (p.Gln196Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV001964459] | Chr14:92021558 [GRCh38] Chr14:92487902 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5645C>A (p.Ser1882Tyr) | single nucleotide variant | not provided [RCV001810571] | Chr14:91972791 [GRCh38] Chr14:92439135 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5719+260T>A | single nucleotide variant | not provided [RCV001580839] | Chr14:91972457 [GRCh38] Chr14:92438801 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1314+214G>A | single nucleotide variant | not provided [RCV001565065] | Chr14:92010772 [GRCh38] Chr14:92477116 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4390G>A (p.Glu1464Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001316838] | Chr14:92003586 [GRCh38] Chr14:92469930 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.280A>G (p.Thr94Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV001350815] | Chr14:92025342 [GRCh38] Chr14:92491686 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.202-4C>G | single nucleotide variant | Achondrogenesis, type IA [RCV001395772] | Chr14:92025424 [GRCh38] Chr14:92491768 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5574+218G>A | single nucleotide variant | not provided [RCV001527841] | Chr14:91974409 [GRCh38] Chr14:92440753 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3891G>C (p.Gln1297His) | single nucleotide variant | Achondrogenesis, type IA [RCV001329832] | Chr14:92004085 [GRCh38] Chr14:92470429 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4558-18A>C | single nucleotide variant | not provided [RCV001812290] | Chr14:92000126 [GRCh38] Chr14:92466470 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3595G>A (p.Val1199Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV001300277] | Chr14:92004381 [GRCh38] Chr14:92470725 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5359C>T (p.Leu1787Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV001323122] | Chr14:91975270 [GRCh38] Chr14:92441614 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3215A>G (p.His1072Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV001372760]|Inborn genetic diseases [RCV002550925] | Chr14:92004761 [GRCh38] Chr14:92471105 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3431C>T (p.Ser1144Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV001345363] | Chr14:92004545 [GRCh38] Chr14:92470889 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4159_4161del (p.Glu1387del) | deletion | Achondrogenesis, type IA [RCV001300940] | Chr14:92003815..92003817 [GRCh38] Chr14:92470159..92470161 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.389C>A (p.Ser130Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV001331175] | Chr14:92021755 [GRCh38] Chr14:92488099 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del) | deletion | Achondrogenesis, type IA [RCV001370741] | Chr14:92006037..92006042 [GRCh38] Chr14:92472381..92472386 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV001329831] | Chr14:92005365 [GRCh38] Chr14:92471709 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.3161T>G (p.Val1054Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV001340127] | Chr14:92004815 [GRCh38] Chr14:92471159 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3401T>C (p.Ile1134Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001314050] | Chr14:92004575 [GRCh38] Chr14:92470919 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.111G>A (p.Met37Ile) | single nucleotide variant | not provided [RCV001812503] | Chr14:92039575 [GRCh38] Chr14:92505919 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV001449731] | Chr14:92004894 [GRCh38] Chr14:92471238 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.2314G>A (p.Asp772Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV001307053] | Chr14:92005662 [GRCh38] Chr14:92472006 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1661del (p.Thr554fs) | deletion | Achondrogenesis, type IA [RCV001333211] | Chr14:92006315 [GRCh38] Chr14:92472659 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.2916T>C (p.Ile972=) | single nucleotide variant | Achondrogenesis, type IA [RCV001494332] | Chr14:92005060 [GRCh38] Chr14:92471404 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV001359719] | Chr14:92005972 [GRCh38] Chr14:92472316 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1568A>G (p.Asn523Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV001450747] | Chr14:92006408 [GRCh38] Chr14:92472752 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5124C>T (p.Asn1708=) | single nucleotide variant | Achondrogenesis, type IA [RCV001457776] | Chr14:91993845 [GRCh38] Chr14:92460189 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3327T>C (p.Thr1109=) | single nucleotide variant | Achondrogenesis, type IA [RCV001401657] | Chr14:92004649 [GRCh38] Chr14:92470993 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5457+81T>A | single nucleotide variant | Achondrogenesis, type IA [RCV001420138] | Chr14:91975091 [GRCh38] Chr14:92441435 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_004239.4(TRIP11):c.2595G>A (p.Leu865=) | single nucleotide variant | Achondrogenesis, type IA [RCV001423590] | Chr14:92005381 [GRCh38] Chr14:92471725 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.618T>C (p.Ser206=) | single nucleotide variant | Achondrogenesis, type IA [RCV001445105] | Chr14:92017721 [GRCh38] Chr14:92484065 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5458-55dup | duplication | not provided [RCV001666833] | Chr14:91974785..91974786 [GRCh38] Chr14:92441129..92441130 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1314+256G>C | single nucleotide variant | not provided [RCV001589332] | Chr14:92010730 [GRCh38] Chr14:92477074 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1527+41A>G | single nucleotide variant | Achondrogenesis, type IA [RCV001838748]|Goldblatt syndrome [RCV001838749]|not provided [RCV001674395] | Chr14:92007599 [GRCh38] Chr14:92473943 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.658-276T>C | single nucleotide variant | not provided [RCV001589680] | Chr14:92016137 [GRCh38] Chr14:92482481 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.202-89A>G | single nucleotide variant | not provided [RCV001654689] | Chr14:92025509 [GRCh38] Chr14:92491853 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1227+259_1227+271del | deletion | not provided [RCV001669560] | Chr14:92011484..92011496 [GRCh38] Chr14:92477828..92477840 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5719+181C>T | single nucleotide variant | not provided [RCV001587061] | Chr14:91972536 [GRCh38] Chr14:92438880 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.823+83C>T | single nucleotide variant | not provided [RCV001589751] | Chr14:92015613 [GRCh38] Chr14:92481957 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.823+30A>T | single nucleotide variant | not provided [RCV001674980] | Chr14:92015666 [GRCh38] Chr14:92482010 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1228-246G>A | single nucleotide variant | not provided [RCV001539938] | Chr14:92011318 [GRCh38] Chr14:92477662 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4968G>A (p.Ala1656=) | single nucleotide variant | Achondrogenesis, type IA [RCV001499885] | Chr14:91995440 [GRCh38] Chr14:92461784 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5007T>C (p.Tyr1669=) | single nucleotide variant | Achondrogenesis, type IA [RCV001499506] | Chr14:91995401 [GRCh38] Chr14:92461745 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.321C>T (p.Ile107=) | single nucleotide variant | Achondrogenesis, type IA [RCV002077203]|not provided [RCV001769898] | Chr14:92021823 [GRCh38] Chr14:92488167 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_004239.4(TRIP11):c.202-92_202-90dup | duplication | not provided [RCV001762820] | Chr14:92025509..92025510 [GRCh38] Chr14:92491853..92491854 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4614G>C (p.Lys1538Asn) | single nucleotide variant | not provided [RCV001766290] | Chr14:92000052 [GRCh38] Chr14:92466396 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2008_2011del (p.Lys670fs) | microsatellite | not provided [RCV001785088] | Chr14:92005965..92005968 [GRCh38] Chr14:92472309..92472312 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1240G>T (p.Ala414Ser) | single nucleotide variant | not provided [RCV001811884] | Chr14:92011060 [GRCh38] Chr14:92477404 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.969T>G (p.Ser323=) | single nucleotide variant | not provided [RCV001812597] | Chr14:92014432 [GRCh38] Chr14:92480776 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3817A>C (p.Ser1273Arg) | single nucleotide variant | not provided [RCV001812606] | Chr14:92004159 [GRCh38] Chr14:92470503 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2949_2952del (p.Gln984fs) | deletion | Connective tissue disorder [RCV002276894] | Chr14:92005024..92005027 [GRCh38] Chr14:92471368..92471371 [GRCh37] Chr14:14q32.12 |
pathogenic|likely pathogenic |
NM_004239.4(TRIP11):c.588+2T>C | single nucleotide variant | Achondrogenesis, type IA [RCV001885171] | Chr14:92021554 [GRCh38] Chr14:92487898 [GRCh37] Chr14:14q32.12 |
pathogenic|likely pathogenic |
NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val) | single nucleotide variant | Achondrogenesis, type IA [RCV002542333]|not provided [RCV001810811] | Chr14:91993901 [GRCh38] Chr14:92460245 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2015C>T (p.Ala672Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001896697] | Chr14:92005961 [GRCh38] Chr14:92472305 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4692G>C (p.Gln1564His) | single nucleotide variant | Achondrogenesis, type IA [RCV001987678] | Chr14:91999974 [GRCh38] Chr14:92466318 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5434G>A (p.Val1812Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV001913602]|not provided [RCV003136297] | Chr14:91975195 [GRCh38] Chr14:92441539 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1107_1108dup (p.Thr370fs) | duplication | Achondrogenesis, type IA [RCV001822984] | Chr14:92014292..92014293 [GRCh38] Chr14:92480636..92480637 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.3514G>A (p.Glu1172Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001891316]|Inborn genetic diseases [RCV003247114] | Chr14:92004462 [GRCh38] Chr14:92470806 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2720A>G (p.His907Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV001874128] | Chr14:92005256 [GRCh38] Chr14:92471600 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_004239.4(TRIP11):c.4019A>C (p.Glu1340Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV001929594]|Inborn genetic diseases [RCV003289245] | Chr14:92003957 [GRCh38] Chr14:92470301 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1153G>A (p.Glu385Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001966601] | Chr14:92014248 [GRCh38] Chr14:92480592 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2123dup (p.Asn708fs) | duplication | Achondrogenesis, type IA [RCV002044703] | Chr14:92005852..92005853 [GRCh38] Chr14:92472196..92472197 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.3910C>A (p.Leu1304Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV001896068] | Chr14:92004066 [GRCh38] Chr14:92470410 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001844308] | Chr14:91975209 [GRCh38] Chr14:92441553 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1409A>G (p.His470Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV001928464] | Chr14:92007758 [GRCh38] Chr14:92474102 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5161-3C>G | single nucleotide variant | Achondrogenesis, type IA [RCV001910838] | Chr14:91988386 [GRCh38] Chr14:92454730 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1987dup (p.Gln663fs) | duplication | Achondrogenesis, type IA [RCV002007149] | Chr14:92005988..92005989 [GRCh38] Chr14:92472332..92472333 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.2043G>T (p.Lys681Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV001874922] | Chr14:92005933 [GRCh38] Chr14:92472277 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1272C>T (p.Ile424=) | single nucleotide variant | Achondrogenesis, type IA [RCV001913475] | Chr14:92011028 [GRCh38] Chr14:92477372 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.392T>A (p.Val131Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV001987530] | Chr14:92021752 [GRCh38] Chr14:92488096 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2200G>A (p.Glu734Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001986026] | Chr14:92005776 [GRCh38] Chr14:92472120 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3233C>T (p.Thr1078Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV001968215] | Chr14:92004743 [GRCh38] Chr14:92471087 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2276T>A (p.Leu759Gln) | single nucleotide variant | Achondrogenesis, type IA [RCV002006780] | Chr14:92005700 [GRCh38] Chr14:92472044 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741) | copy number loss | not specified [RCV002053117] | Chr14:88345625..94773741 [GRCh37] Chr14:14q31.3-32.13 |
pathogenic |
NM_004239.4(TRIP11):c.3631C>T (p.Arg1211Cys) | single nucleotide variant | Achondrogenesis, type IA [RCV001966785] | Chr14:92004345 [GRCh38] Chr14:92470689 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2909A>G (p.Lys970Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV001911887] | Chr14:92005067 [GRCh38] Chr14:92471411 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5776C>T (p.Arg1926Cys) | single nucleotide variant | Achondrogenesis, type IA [RCV001987172] | Chr14:91969837 [GRCh38] Chr14:92436181 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4330G>A (p.Val1444Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV001985098] | Chr14:92003646 [GRCh38] Chr14:92469990 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2609A>T (p.Glu870Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001891006] | Chr14:92005367 [GRCh38] Chr14:92471711 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3821A>T (p.Tyr1274Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV002043509] | Chr14:92004155 [GRCh38] Chr14:92470499 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2123del (p.Asn708fs) | deletion | Achondrogenesis, type IA [RCV001910868] | Chr14:92005853 [GRCh38] Chr14:92472197 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.774_777del (p.Ser259fs) | deletion | Achondrogenesis, type IA [RCV001910439] | Chr14:92015742..92015745 [GRCh38] Chr14:92482086..92482089 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.4459_4460del (p.Met1487fs) | deletion | Achondrogenesis, type IA [RCV001844307] | Chr14:92003516..92003517 [GRCh38] Chr14:92469860..92469861 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.3133C>A (p.Gln1045Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV002042519] | Chr14:92004843 [GRCh38] Chr14:92471187 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2406G>T (p.Glu802Asp) | single nucleotide variant | Achondrogenesis, type IA [RCV001870875] | Chr14:92005570 [GRCh38] Chr14:92471914 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1066G>A (p.Glu356Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001895192] | Chr14:92014335 [GRCh38] Chr14:92480679 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV001822983] | Chr14:92021618 [GRCh38] Chr14:92487962 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV001844309] | Chr14:92015756 [GRCh38] Chr14:92482100 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.5200T>C (p.Ser1734Pro) | single nucleotide variant | Achondrogenesis, type IA [RCV002022238] | Chr14:91988344 [GRCh38] Chr14:92454688 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5034G>A (p.Met1678Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV001911666] | Chr14:91995374 [GRCh38] Chr14:92461718 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5307G>A (p.Met1769Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV002005552] | Chr14:91976143 [GRCh38] Chr14:92442487 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV001969529]|Connective tissue disorder [RCV002276965] | Chr14:91969713 [GRCh38] Chr14:92436057 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.911C>T (p.Ser304Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV001909837] | Chr14:92014490 [GRCh38] Chr14:92480834 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.331A>G (p.Lys111Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV001983454] | Chr14:92021813 [GRCh38] Chr14:92488157 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2041A>G (p.Lys681Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV001942631] | Chr14:92005935 [GRCh38] Chr14:92472279 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3281A>C (p.Tyr1094Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV001962550] | Chr14:92004695 [GRCh38] Chr14:92471039 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4165G>A (p.Glu1389Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001953035] | Chr14:92003811 [GRCh38] Chr14:92470155 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2189A>G (p.Lys730Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV001989816] | Chr14:92005787 [GRCh38] Chr14:92472131 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2129T>C (p.Ile710Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV002038540] | Chr14:92005847 [GRCh38] Chr14:92472191 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5078C>T (p.Ala1693Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001942708] | Chr14:91993891 [GRCh38] Chr14:92460235 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3821A>G (p.Tyr1274Cys) | single nucleotide variant | Achondrogenesis, type IA [RCV001996587] | Chr14:92004155 [GRCh38] Chr14:92470499 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3797A>G (p.Asp1266Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV001886936] | Chr14:92004179 [GRCh38] Chr14:92470523 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2782C>T (p.Gln928Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV001933103] | Chr14:92005194 [GRCh38] Chr14:92471538 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.633A>G (p.Ile211Met) | single nucleotide variant | Achondrogenesis, type IA [RCV001956854] | Chr14:92017706 [GRCh38] Chr14:92484050 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2433C>A (p.Asn811Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001992018] | Chr14:92005543 [GRCh38] Chr14:92471887 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2907A>G (p.Gln969=) | single nucleotide variant | Achondrogenesis, type IA [RCV001941679] | Chr14:92005069 [GRCh38] Chr14:92471413 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.922del (p.Met308fs) | deletion | Achondrogenesis, type IA [RCV001951419] | Chr14:92014479 [GRCh38] Chr14:92480823 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1039A>G (p.Met347Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001931178] | Chr14:92014362 [GRCh38] Chr14:92480706 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5486C>T (p.Thr1829Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV002015604] | Chr14:91974715 [GRCh38] Chr14:92441059 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2303A>G (p.Asn768Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV001903742]|Inborn genetic diseases [RCV002555398] | Chr14:92005673 [GRCh38] Chr14:92472017 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_004239.4(TRIP11):c.307A>C (p.Lys103Gln) | single nucleotide variant | Achondrogenesis, type IA [RCV001898522] | Chr14:92025315 [GRCh38] Chr14:92491659 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4447C>A (p.Gln1483Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV002028813] | Chr14:92003529 [GRCh38] Chr14:92469873 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5160G>A (p.Gln1720=) | single nucleotide variant | Achondrogenesis, type IA [RCV001978283] | Chr14:91993809 [GRCh38] Chr14:92460153 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1828_1830del (p.Lys610del) | deletion | Achondrogenesis, type IA [RCV001990651] | Chr14:92006146..92006148 [GRCh38] Chr14:92472490..92472492 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4182A>T (p.Glu1394Asp) | single nucleotide variant | Achondrogenesis, type IA [RCV001952672]|Inborn genetic diseases [RCV003348645] | Chr14:92003794 [GRCh38] Chr14:92470138 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1818T>C (p.Asn606=) | single nucleotide variant | Achondrogenesis, type IA [RCV001972427] | Chr14:92006158 [GRCh38] Chr14:92472502 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4805C>T (p.Ala1602Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001920081] | Chr14:91999327 [GRCh38] Chr14:92465671 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NC_000014.8:g.(?_92505871)_(92506029_?)dup | duplication | Achondrogenesis, type IA [RCV001920464] | Chr14:92505871..92506029 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5174A>G (p.Glu1725Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV001923954] | Chr14:91988370 [GRCh38] Chr14:92454714 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1457G>C (p.Ser486Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001880603] | Chr14:92007710 [GRCh38] Chr14:92474054 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3903C>T (p.Thr1301=) | single nucleotide variant | Achondrogenesis, type IA [RCV001956091] | Chr14:92004073 [GRCh38] Chr14:92470417 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2558G>A (p.Arg853Gln) | single nucleotide variant | Achondrogenesis, type IA [RCV001915745] | Chr14:92005418 [GRCh38] Chr14:92471762 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5729A>T (p.Glu1910Val) | single nucleotide variant | Achondrogenesis, type IA [RCV002034033] | Chr14:91969884 [GRCh38] Chr14:92436228 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1820T>C (p.Leu607Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV001938847] | Chr14:92006156 [GRCh38] Chr14:92472500 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1527+4A>G | single nucleotide variant | Achondrogenesis, type IA [RCV002027908] | Chr14:92007636 [GRCh38] Chr14:92473980 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2075A>G (p.Gln692Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV001938894] | Chr14:92005901 [GRCh38] Chr14:92472245 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3467G>C (p.Arg1156Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV001993552] | Chr14:92004509 [GRCh38] Chr14:92470853 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4828A>G (p.Arg1610Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV001977524] | Chr14:91999304 [GRCh38] Chr14:92465648 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.674G>A (p.Arg225Gln) | single nucleotide variant | Achondrogenesis, type IA [RCV001903395] | Chr14:92015845 [GRCh38] Chr14:92482189 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4481G>C (p.Arg1494Pro) | single nucleotide variant | Achondrogenesis, type IA [RCV002033683] | Chr14:92003495 [GRCh38] Chr14:92469839 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3619C>T (p.Leu1207Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV002035209] | Chr14:92004357 [GRCh38] Chr14:92470701 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4073A>G (p.Glu1358Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV001959796] | Chr14:92003903 [GRCh38] Chr14:92470247 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.716T>C (p.Leu239Pro) | single nucleotide variant | Achondrogenesis, type IA [RCV001973025] | Chr14:92015803 [GRCh38] Chr14:92482147 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4673T>A (p.Met1558Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001974774]|Inborn genetic diseases [RCV003303456] | Chr14:91999993 [GRCh38] Chr14:92466337 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3511A>G (p.Ile1171Val) | single nucleotide variant | Achondrogenesis, type IA [RCV001954916] | Chr14:92004465 [GRCh38] Chr14:92470809 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4959_4960del (p.Asp1653fs) | deletion | Achondrogenesis, type IA [RCV001897310] | Chr14:91995448..91995449 [GRCh38] Chr14:92461792..92461793 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1255A>C (p.Lys419Gln) | single nucleotide variant | Achondrogenesis, type IA [RCV002050241]|Inborn genetic diseases [RCV002543483] | Chr14:92011045 [GRCh38] Chr14:92477389 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2038G>A (p.Glu680Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV001931812] | Chr14:92005938 [GRCh38] Chr14:92472282 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2884G>T (p.Asp962Tyr) | single nucleotide variant | Achondrogenesis, type IA [RCV001870131] | Chr14:92005092 [GRCh38] Chr14:92471436 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3039A>C (p.Leu1013Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV002016044] | Chr14:92004937 [GRCh38] Chr14:92471281 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2098A>G (p.Asn700Asp) | single nucleotide variant | Achondrogenesis, type IA [RCV001992360] | Chr14:92005878 [GRCh38] Chr14:92472222 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1833G>A (p.Glu611=) | single nucleotide variant | Achondrogenesis, type IA [RCV002129023] | Chr14:92006143 [GRCh38] Chr14:92472487 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.231T>C (p.Asp77=) | single nucleotide variant | Achondrogenesis, type IA [RCV002185165] | Chr14:92025391 [GRCh38] Chr14:92491735 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4339C>T (p.Leu1447=) | single nucleotide variant | Achondrogenesis, type IA [RCV002107250] | Chr14:92003637 [GRCh38] Chr14:92469981 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5457+10C>T | single nucleotide variant | Achondrogenesis, type IA [RCV002189337] | Chr14:91975162 [GRCh38] Chr14:92441506 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4128G>A (p.Ser1376=) | single nucleotide variant | Achondrogenesis, type IA [RCV002129079] | Chr14:92003848 [GRCh38] Chr14:92470192 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1578T>C (p.Asp526=) | single nucleotide variant | Achondrogenesis, type IA [RCV002090938] | Chr14:92006398 [GRCh38] Chr14:92472742 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.588+11del | deletion | Achondrogenesis, type IA [RCV002124879] | Chr14:92021545 [GRCh38] Chr14:92487889 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=) | single nucleotide variant | Achondrogenesis, type IA [RCV002129606]|Connective tissue disorder [RCV002277022] | Chr14:92005960 [GRCh38] Chr14:92472304 [GRCh37] Chr14:14q32.12 |
benign|uncertain significance |
NM_004239.4(TRIP11):c.5637A>G (p.Pro1879=) | single nucleotide variant | Achondrogenesis, type IA [RCV002146767] | Chr14:91972799 [GRCh38] Chr14:92439143 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5188T>C (p.Leu1730=) | single nucleotide variant | Achondrogenesis, type IA [RCV002107472] | Chr14:91988356 [GRCh38] Chr14:92454700 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.824-9A>G | single nucleotide variant | Achondrogenesis, type IA [RCV002189754] | Chr14:92014586 [GRCh38] Chr14:92480930 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1317A>G (p.Glu439=) | single nucleotide variant | Achondrogenesis, type IA [RCV002089805] | Chr14:92007850 [GRCh38] Chr14:92474194 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3441T>C (p.Phe1147=) | single nucleotide variant | Achondrogenesis, type IA [RCV002109670] | Chr14:92004535 [GRCh38] Chr14:92470879 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3864A>G (p.Leu1288=) | single nucleotide variant | Achondrogenesis, type IA [RCV002074763] | Chr14:92004112 [GRCh38] Chr14:92470456 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1173A>G (p.Gln391=) | single nucleotide variant | Achondrogenesis, type IA [RCV002146487] | Chr14:92014228 [GRCh38] Chr14:92480572 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4266A>G (p.Gln1422=) | single nucleotide variant | Achondrogenesis, type IA [RCV002111697] | Chr14:92003710 [GRCh38] Chr14:92470054 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2391A>G (p.Ser797=) | single nucleotide variant | Achondrogenesis, type IA [RCV002126229] | Chr14:92005585 [GRCh38] Chr14:92471929 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4983C>T (p.Val1661=) | single nucleotide variant | Achondrogenesis, type IA [RCV002187302] | Chr14:91995425 [GRCh38] Chr14:92461769 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4434A>G (p.Glu1478=) | single nucleotide variant | Achondrogenesis, type IA [RCV002175024] | Chr14:92003542 [GRCh38] Chr14:92469886 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2355G>A (p.Met785Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV002129793] | Chr14:92005621 [GRCh38] Chr14:92471965 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5922A>G (p.Lys1974=) | single nucleotide variant | Achondrogenesis, type IA [RCV002190277] | Chr14:91969691 [GRCh38] Chr14:92436035 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4149A>G (p.Leu1383=) | single nucleotide variant | Achondrogenesis, type IA [RCV002113251] | Chr14:92003827 [GRCh38] Chr14:92470171 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3165T>C (p.Gly1055=) | single nucleotide variant | Achondrogenesis, type IA [RCV002097432] | Chr14:92004811 [GRCh38] Chr14:92471155 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.297A>G (p.Gln99=) | single nucleotide variant | Achondrogenesis, type IA [RCV002128567] | Chr14:92025325 [GRCh38] Chr14:92491669 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1530C>T (p.His510=) | single nucleotide variant | Achondrogenesis, type IA [RCV002076994] | Chr14:92006446 [GRCh38] Chr14:92472790 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4892+12A>T | single nucleotide variant | Achondrogenesis, type IA [RCV002193265] | Chr14:91999228 [GRCh38] Chr14:92465572 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4965T>G (p.Thr1655=) | single nucleotide variant | Achondrogenesis, type IA [RCV002076715] | Chr14:91995443 [GRCh38] Chr14:92461787 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2655T>G (p.Pro885=) | single nucleotide variant | Achondrogenesis, type IA [RCV002196288] | Chr14:92005321 [GRCh38] Chr14:92471665 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1098G>A (p.Lys366=) | single nucleotide variant | Achondrogenesis, type IA [RCV002116073] | Chr14:92014303 [GRCh38] Chr14:92480647 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.5400T>C (p.His1800=) | single nucleotide variant | Achondrogenesis, type IA [RCV002168169] | Chr14:91975229 [GRCh38] Chr14:92441573 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3669G>A (p.Glu1223=) | single nucleotide variant | Achondrogenesis, type IA [RCV002219455] | Chr14:92004307 [GRCh38] Chr14:92470651 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5805A>G (p.Pro1935=) | single nucleotide variant | Achondrogenesis, type IA [RCV002120683] | Chr14:91969808 [GRCh38] Chr14:92436152 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.313-18T>G | single nucleotide variant | Achondrogenesis, type IA [RCV002184428] | Chr14:92021849 [GRCh38] Chr14:92488193 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.663A>G (p.Leu221=) | single nucleotide variant | Achondrogenesis, type IA [RCV002137142] | Chr14:92015856 [GRCh38] Chr14:92482200 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.214A>G (p.Lys72Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV002119441]|Connective tissue disorder [RCV002277018] | Chr14:92025408 [GRCh38] Chr14:92491752 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.576G>C (p.Arg192Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV002218973] | Chr14:92021568 [GRCh38] Chr14:92487912 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.657+16G>C | single nucleotide variant | Achondrogenesis, type IA [RCV002219028] | Chr14:92017666 [GRCh38] Chr14:92484010 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.312+12C>A | single nucleotide variant | Achondrogenesis, type IA [RCV002154615] | Chr14:92025298 [GRCh38] Chr14:92491642 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3216T>C (p.His1072=) | single nucleotide variant | Achondrogenesis, type IA [RCV002201154] | Chr14:92004760 [GRCh38] Chr14:92471104 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4698+15T>C | single nucleotide variant | Achondrogenesis, type IA [RCV002081549] | Chr14:91999953 [GRCh38] Chr14:92466297 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.658-13_658-11del | deletion | Achondrogenesis, type IA [RCV002219061] | Chr14:92015872..92015874 [GRCh38] Chr14:92482216..92482218 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1030A>C (p.Arg344=) | single nucleotide variant | Achondrogenesis, type IA [RCV002183734] | Chr14:92014371 [GRCh38] Chr14:92480715 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4558-8T>C | single nucleotide variant | Achondrogenesis, type IA [RCV002144558] | Chr14:92000116 [GRCh38] Chr14:92466460 [GRCh37] Chr14:14q32.12 |
likely benign |
NC_000014.8:g.(?_90429459)_(97347545_?)dup | duplication | not provided [RCV003109490] | Chr14:90429459..97347545 [GRCh37] Chr14:14q32.11-32.2 |
uncertain significance |
NM_004239.4(TRIP11):c.5199A>T (p.Ala1733=) | single nucleotide variant | Achondrogenesis, type IA [RCV003110738] | Chr14:91988345 [GRCh38] Chr14:92454689 [GRCh37] Chr14:14q32.12 |
likely benign |
NC_000014.8:g.(?_90429459)_(94856914_?)dup | duplication | Achondrogenesis, type IA [RCV003113413] | Chr14:90429459..94856914 [GRCh37] Chr14:14q32.11-32.13 |
uncertain significance |
NM_004239.4(TRIP11):c.5408T>G (p.Leu1803Ter) | single nucleotide variant | See cases [RCV003128542] | Chr14:91975221 [GRCh38] Chr14:92441565 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1835A>G (p.His612Arg) | single nucleotide variant | not provided [RCV003129389] | Chr14:92006141 [GRCh38] Chr14:92472485 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1081C>T (p.Gln361Ter) | single nucleotide variant | Connective tissue disorder [RCV002278814] | Chr14:92014320 [GRCh38] Chr14:92480664 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.1735C>T (p.Gln579Ter) | single nucleotide variant | Connective tissue disorder [RCV002278815] | Chr14:92006241 [GRCh38] Chr14:92472585 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.2155G>A (p.Gly719Arg) | single nucleotide variant | Connective tissue disorder [RCV002278816] | Chr14:92005821 [GRCh38] Chr14:92472165 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5368G>C (p.Gly1790Arg) | single nucleotide variant | Connective tissue disorder [RCV002278818] | Chr14:91975261 [GRCh38] Chr14:92441605 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5818C>A (p.Pro1940Thr) | single nucleotide variant | not provided [RCV002265324] | Chr14:91969795 [GRCh38] Chr14:92436139 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 | copy number gain | See cases [RCV002286356] | Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
t(13;14)(q12.2;q32.12) | translocation | Myeloid neoplasm [RCV002292429] | Chr13:28034151..28034152 [GRCh38] Chr14:92003435..92003436 [GRCh38] Chr13:13q12.2 Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.975A>G (p.Ala325=) | single nucleotide variant | Connective tissue disorder [RCV002278819] | Chr14:92014426 [GRCh38] Chr14:92480770 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_004239.4(TRIP11):c.202-89_202-88insGG | insertion | not provided [RCV002285768] | Chr14:92025508..92025509 [GRCh38] Chr14:92491852..92491853 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5221G>A (p.Asp1741Asn) | single nucleotide variant | Connective tissue disorder [RCV002278817] | Chr14:91988323 [GRCh38] Chr14:92454667 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4567G>A (p.Gly1523Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV002771409] | Chr14:92000099 [GRCh38] Chr14:92466443 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.312+6T>C | single nucleotide variant | Achondrogenesis, type IA [RCV002967560] | Chr14:92025304 [GRCh38] Chr14:92491648 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5409A>T (p.Leu1803Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV002304601] | Chr14:91975220 [GRCh38] Chr14:92441564 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 | copy number gain | not provided [RCV002472541] | Chr14:81593708..97059276 [GRCh37] Chr14:14q31.1-32.2 |
likely pathogenic |
NM_004239.4(TRIP11):c.581_582insA (p.Ala195fs) | insertion | Achondrogenesis, type IA [RCV002310611] | Chr14:92021562..92021563 [GRCh38] Chr14:92487906..92487907 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.2476A>G (p.Lys826Glu) | single nucleotide variant | Inborn genetic diseases [RCV002774168] | Chr14:92005500 [GRCh38] Chr14:92471844 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.800A>G (p.Glu267Gly) | single nucleotide variant | Inborn genetic diseases [RCV002880023] | Chr14:92015719 [GRCh38] Chr14:92482063 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1788A>G (p.Gln596=) | single nucleotide variant | Achondrogenesis, type IA [RCV002995072] | Chr14:92006188 [GRCh38] Chr14:92472532 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4434A>T (p.Glu1478Asp) | single nucleotide variant | Achondrogenesis, type IA [RCV002750362] | Chr14:92003542 [GRCh38] Chr14:92469886 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1179A>C (p.Ala393=) | single nucleotide variant | Achondrogenesis, type IA [RCV003075161] | Chr14:92014222 [GRCh38] Chr14:92480566 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4413A>G (p.Thr1471=) | single nucleotide variant | Achondrogenesis, type IA [RCV002614595] | Chr14:92003563 [GRCh38] Chr14:92469907 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5260+18C>T | single nucleotide variant | Achondrogenesis, type IA [RCV003032566] | Chr14:91988266 [GRCh38] Chr14:92454610 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.210G>T (p.Arg70Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV002816440] | Chr14:92025412 [GRCh38] Chr14:92491756 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.465A>C (p.Ser155=) | single nucleotide variant | Achondrogenesis, type IA [RCV002994147] | Chr14:92021679 [GRCh38] Chr14:92488023 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1974T>C (p.Leu658=) | single nucleotide variant | Achondrogenesis, type IA [RCV003014790] | Chr14:92006002 [GRCh38] Chr14:92472346 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1652T>G (p.Met551Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV003035224] | Chr14:92006324 [GRCh38] Chr14:92472668 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.688G>A (p.Asp230Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV002690073] | Chr14:92015831 [GRCh38] Chr14:92482175 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1288G>C (p.Glu430Gln) | single nucleotide variant | Inborn genetic diseases [RCV002817479] | Chr14:92011012 [GRCh38] Chr14:92477356 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4508_4511del (p.Met1503fs) | deletion | Achondrogenesis, type IA [RCV002617151] | Chr14:92003465..92003468 [GRCh38] Chr14:92469809..92469812 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.24C>G (p.Leu8=) | single nucleotide variant | Achondrogenesis, type IA [RCV003013326] | Chr14:92039662 [GRCh38] Chr14:92506006 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3641del (p.Lys1213_Leu1214insTer) | deletion | Achondrogenesis, type IA [RCV003016360] | Chr14:92004335 [GRCh38] Chr14:92470679 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.5893C>G (p.Pro1965Ala) | single nucleotide variant | Inborn genetic diseases [RCV002879680] | Chr14:91969720 [GRCh38] Chr14:92436064 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5155T>C (p.Leu1719=) | single nucleotide variant | Achondrogenesis, type IA [RCV002843366] | Chr14:91993814 [GRCh38] Chr14:92460158 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5411G>A (p.Arg1804Gln) | single nucleotide variant | Inborn genetic diseases [RCV002783591] | Chr14:91975218 [GRCh38] Chr14:92441562 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4194A>G (p.Leu1398=) | single nucleotide variant | Achondrogenesis, type IA [RCV002761235] | Chr14:92003782 [GRCh38] Chr14:92470126 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1620A>C (p.Lys540Asn) | single nucleotide variant | Achondrogenesis, type IA [RCV002913981] | Chr14:92006356 [GRCh38] Chr14:92472700 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1838T>C (p.Ile613Thr) | single nucleotide variant | Inborn genetic diseases [RCV002799956] | Chr14:92006138 [GRCh38] Chr14:92472482 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2448dup (p.Ile817fs) | duplication | Achondrogenesis, type IA [RCV002571730] | Chr14:92005527..92005528 [GRCh38] Chr14:92471871..92471872 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.5056+12G>A | single nucleotide variant | Achondrogenesis, type IA [RCV002695922] | Chr14:91995340 [GRCh38] Chr14:92461684 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4699-13G>A | single nucleotide variant | Achondrogenesis, type IA [RCV003078048] | Chr14:91999446 [GRCh38] Chr14:92465790 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2610A>G (p.Glu870=) | single nucleotide variant | Achondrogenesis, type IA [RCV003018134] | Chr14:92005366 [GRCh38] Chr14:92471710 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1228-4G>A | single nucleotide variant | Achondrogenesis, type IA [RCV003018534] | Chr14:92011076 [GRCh38] Chr14:92477420 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2758G>A (p.Glu920Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV003035299] | Chr14:92005218 [GRCh38] Chr14:92471562 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.657+12del | deletion | Achondrogenesis, type IA [RCV003018520] | Chr14:92017670 [GRCh38] Chr14:92484014 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4040A>G (p.Gln1347Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV002591328] | Chr14:92003936 [GRCh38] Chr14:92470280 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4315C>A (p.Leu1439Ile) | single nucleotide variant | Inborn genetic diseases [RCV002798673] | Chr14:92003661 [GRCh38] Chr14:92470005 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5160+11A>T | single nucleotide variant | Achondrogenesis, type IA [RCV003020803] | Chr14:91993798 [GRCh38] Chr14:92460142 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4822A>G (p.Lys1608Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV003080560] | Chr14:91999310 [GRCh38] Chr14:92465654 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1655A>C (p.Asp552Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV002927202] | Chr14:92006321 [GRCh38] Chr14:92472665 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.262C>G (p.Gln88Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV002592931] | Chr14:92025360 [GRCh38] Chr14:92491704 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3091G>A (p.Glu1031Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV002912813] | Chr14:92004885 [GRCh38] Chr14:92471229 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4519G>C (p.Ala1507Pro) | single nucleotide variant | Achondrogenesis, type IA [RCV002659578] | Chr14:92003457 [GRCh38] Chr14:92469801 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1268G>A (p.Arg423His) | single nucleotide variant | Achondrogenesis, type IA [RCV002949223] | Chr14:92011032 [GRCh38] Chr14:92477376 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1743T>A (p.Leu581=) | single nucleotide variant | Achondrogenesis, type IA [RCV003053000] | Chr14:92006233 [GRCh38] Chr14:92472577 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.658-18_658-17insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | insertion | Achondrogenesis, type IA [RCV003019935] | Chr14:92015878..92015879 [GRCh38] Chr14:92482222..92482223 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.658-18T>G | single nucleotide variant | Achondrogenesis, type IA [RCV003019936] | Chr14:92015879 [GRCh38] Chr14:92482223 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4460T>A (p.Met1487Lys) | single nucleotide variant | Inborn genetic diseases [RCV002782609] | Chr14:92003516 [GRCh38] Chr14:92469860 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1812G>A (p.Lys604=) | single nucleotide variant | Achondrogenesis, type IA [RCV002867649] | Chr14:92006164 [GRCh38] Chr14:92472508 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2044T>C (p.Leu682=) | single nucleotide variant | Achondrogenesis, type IA [RCV002927482] | Chr14:92005932 [GRCh38] Chr14:92472276 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4020A>G (p.Glu1340=) | single nucleotide variant | Achondrogenesis, type IA [RCV002891208] | Chr14:92003956 [GRCh38] Chr14:92470300 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2289T>C (p.His763=) | single nucleotide variant | Achondrogenesis, type IA [RCV003085359] | Chr14:92005687 [GRCh38] Chr14:92472031 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2665G>C (p.Asp889His) | single nucleotide variant | Achondrogenesis, type IA [RCV003042524] | Chr14:92005311 [GRCh38] Chr14:92471655 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2382C>A (p.Asp794Glu) | single nucleotide variant | Inborn genetic diseases [RCV002804683] | Chr14:92005594 [GRCh38] Chr14:92471938 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3622C>A (p.Leu1208Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV002667745] | Chr14:92004354 [GRCh38] Chr14:92470698 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.517G>C (p.Glu173Gln) | single nucleotide variant | Inborn genetic diseases [RCV002713053] | Chr14:92021627 [GRCh38] Chr14:92487971 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5575-1G>A | single nucleotide variant | Achondrogenesis, type IA [RCV002914585] | Chr14:91972862 [GRCh38] Chr14:92439206 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.1273G>A (p.Glu425Lys) | single nucleotide variant | Inborn genetic diseases [RCV002931021] | Chr14:92011027 [GRCh38] Chr14:92477371 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5888C>T (p.Ala1963Val) | single nucleotide variant | Achondrogenesis, type IA [RCV002700600] | Chr14:91969725 [GRCh38] Chr14:92436069 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2455A>G (p.Lys819Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV002805757] | Chr14:92005521 [GRCh38] Chr14:92471865 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3475A>G (p.Ile1159Val) | single nucleotide variant | Achondrogenesis, type IA [RCV002928298] | Chr14:92004501 [GRCh38] Chr14:92470845 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2700A>G (p.Gln900=) | single nucleotide variant | Achondrogenesis, type IA [RCV002574045] | Chr14:92005276 [GRCh38] Chr14:92471620 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3211C>G (p.Leu1071Val) | single nucleotide variant | Inborn genetic diseases [RCV002830433] | Chr14:92004765 [GRCh38] Chr14:92471109 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.218A>G (p.Lys73Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV002801817] | Chr14:92025404 [GRCh38] Chr14:92491748 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5343-4A>G | single nucleotide variant | Achondrogenesis, type IA [RCV002766284] | Chr14:91975290 [GRCh38] Chr14:92441634 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4922T>C (p.Leu1641Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV003083636] | Chr14:91995486 [GRCh38] Chr14:92461830 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.185C>A (p.Ala62Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV003056545] | Chr14:92033208 [GRCh38] Chr14:92499552 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5754T>C (p.Asp1918=) | single nucleotide variant | Achondrogenesis, type IA [RCV002917722] | Chr14:91969859 [GRCh38] Chr14:92436203 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5211A>G (p.Thr1737=) | single nucleotide variant | Achondrogenesis, type IA [RCV003024576] | Chr14:91988333 [GRCh38] Chr14:92454677 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5530C>G (p.Pro1844Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV002643765] | Chr14:91974671 [GRCh38] Chr14:92441015 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1814A>G (p.Glu605Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV002766005] | Chr14:92006162 [GRCh38] Chr14:92472506 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2444_2455del (p.Ile815_Glu818del) | deletion | Achondrogenesis, type IA [RCV003056763] | Chr14:92005521..92005532 [GRCh38] Chr14:92471865..92471876 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.178A>G (p.Ile60Val) | single nucleotide variant | Achondrogenesis, type IA [RCV003041074] | Chr14:92033215 [GRCh38] Chr14:92499559 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4935G>C (p.Leu1645Phe) | single nucleotide variant | Inborn genetic diseases [RCV002742278] | Chr14:91995473 [GRCh38] Chr14:92461817 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2257A>G (p.Asn753Asp) | single nucleotide variant | Achondrogenesis, type IA [RCV002573160] | Chr14:92005719 [GRCh38] Chr14:92472063 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3167A>C (p.Lys1056Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV002624346] | Chr14:92004809 [GRCh38] Chr14:92471153 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3014A>T (p.Glu1005Val) | single nucleotide variant | Achondrogenesis, type IA [RCV002917723] | Chr14:92004962 [GRCh38] Chr14:92471306 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5555A>G (p.Gln1852Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV002958220] | Chr14:91974646 [GRCh38] Chr14:92440990 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.313-6A>G | single nucleotide variant | Achondrogenesis, type IA [RCV002894290] | Chr14:92021837 [GRCh38] Chr14:92488181 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.140-20A>G | single nucleotide variant | Achondrogenesis, type IA [RCV003040538] | Chr14:92033273 [GRCh38] Chr14:92499617 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5568T>A (p.Val1856=) | single nucleotide variant | Achondrogenesis, type IA [RCV002929181] | Chr14:91974633 [GRCh38] Chr14:92440977 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3054G>A (p.Thr1018=) | single nucleotide variant | Achondrogenesis, type IA [RCV003058891] | Chr14:92004922 [GRCh38] Chr14:92471266 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4790G>A (p.Arg1597His) | single nucleotide variant | Achondrogenesis, type IA [RCV003083464] | Chr14:91999342 [GRCh38] Chr14:92465686 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV002857141] | Chr14:91975237 [GRCh38] Chr14:92441581 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.4418G>A (p.Arg1473Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV003009332] | Chr14:92003558 [GRCh38] Chr14:92469902 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1227+15A>G | single nucleotide variant | Achondrogenesis, type IA [RCV003061285] | Chr14:92011740 [GRCh38] Chr14:92478084 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3773A>T (p.Asp1258Val) | single nucleotide variant | Achondrogenesis, type IA [RCV002900001] | Chr14:92004203 [GRCh38] Chr14:92470547 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1828A>C (p.Lys610Gln) | single nucleotide variant | Achondrogenesis, type IA [RCV002720249] | Chr14:92006148 [GRCh38] Chr14:92472492 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2637C>T (p.Thr879=) | single nucleotide variant | Achondrogenesis, type IA [RCV003063006] | Chr14:92005339 [GRCh38] Chr14:92471683 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4893-9del | deletion | Achondrogenesis, type IA [RCV002942063] | Chr14:91995524 [GRCh38] Chr14:92461868 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.1671A>C (p.Leu557Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV002632253] | Chr14:92006305 [GRCh38] Chr14:92472649 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5285A>C (p.Asp1762Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV003091720] | Chr14:91976165 [GRCh38] Chr14:92442509 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.588+17dup | duplication | Achondrogenesis, type IA [RCV003009165] | Chr14:92021538..92021539 [GRCh38] Chr14:92487882..92487883 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.349C>T (p.Leu117Phe) | single nucleotide variant | Achondrogenesis, type IA [RCV002922253] | Chr14:92021795 [GRCh38] Chr14:92488139 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.481G>C (p.Asp161His) | single nucleotide variant | Inborn genetic diseases [RCV002769930] | Chr14:92021663 [GRCh38] Chr14:92488007 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2971T>G (p.Ser991Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV003044988] | Chr14:92005005 [GRCh38] Chr14:92471349 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4915G>A (p.Glu1639Lys) | single nucleotide variant | Inborn genetic diseases [RCV002921630] | Chr14:91995493 [GRCh38] Chr14:92461837 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4264C>G (p.Gln1422Glu) | single nucleotide variant | Inborn genetic diseases [RCV002855243] | Chr14:92003712 [GRCh38] Chr14:92470056 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4536G>A (p.Gln1512=) | single nucleotide variant | Achondrogenesis, type IA [RCV002877184] | Chr14:92003440 [GRCh38] Chr14:92469784 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.201+10A>C | single nucleotide variant | Achondrogenesis, type IA [RCV002770653] | Chr14:92033182 [GRCh38] Chr14:92499526 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2023G>A (p.Val675Ile) | single nucleotide variant | Achondrogenesis, type IA [RCV002601375] | Chr14:92005953 [GRCh38] Chr14:92472297 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4934T>C (p.Leu1645Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV002962055] | Chr14:91995474 [GRCh38] Chr14:92461818 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1186+1G>C | single nucleotide variant | Achondrogenesis, type IA [RCV002600741] | Chr14:92014214 [GRCh38] Chr14:92480558 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.5158C>A (p.Gln1720Lys) | single nucleotide variant | Inborn genetic diseases [RCV002673746] | Chr14:91993811 [GRCh38] Chr14:92460155 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4585T>G (p.Leu1529Val) | single nucleotide variant | Inborn genetic diseases [RCV002935386] | Chr14:92000081 [GRCh38] Chr14:92466425 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3728A>G (p.Gln1243Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV002576549] | Chr14:92004248 [GRCh38] Chr14:92470592 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4230G>A (p.Lys1410=) | single nucleotide variant | Achondrogenesis, type IA [RCV002577467] | Chr14:92003746 [GRCh38] Chr14:92470090 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1605T>C (p.Asp535=) | single nucleotide variant | Achondrogenesis, type IA [RCV003064769] | Chr14:92006371 [GRCh38] Chr14:92472715 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1186+5A>G | single nucleotide variant | Achondrogenesis, type IA [RCV002715030] | Chr14:92014210 [GRCh38] Chr14:92480554 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2257A>C (p.Asn753His) | single nucleotide variant | Achondrogenesis, type IA [RCV002715086] | Chr14:92005719 [GRCh38] Chr14:92472063 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.604G>A (p.Gly202Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV002834817] | Chr14:92017735 [GRCh38] Chr14:92484079 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3756G>A (p.Gln1252=) | single nucleotide variant | Achondrogenesis, type IA [RCV002812018] | Chr14:92004220 [GRCh38] Chr14:92470564 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2638G>A (p.Ala880Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV003088313] | Chr14:92005338 [GRCh38] Chr14:92471682 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.41A>C (p.Gln14Pro) | single nucleotide variant | Achondrogenesis, type IA [RCV002933562] | Chr14:92039645 [GRCh38] Chr14:92505989 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2542A>G (p.Ile848Val) | single nucleotide variant | Achondrogenesis, type IA [RCV003065165] | Chr14:92005434 [GRCh38] Chr14:92471778 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2125A>G (p.Thr709Ala) | single nucleotide variant | Achondrogenesis, type IA [RCV002942587]|not provided [RCV003111606] | Chr14:92005851 [GRCh38] Chr14:92472195 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3629A>T (p.Glu1210Val) | single nucleotide variant | Achondrogenesis, type IA [RCV002814974] | Chr14:92004347 [GRCh38] Chr14:92470691 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.201+15dup | duplication | Achondrogenesis, type IA [RCV002582854] | Chr14:92033176..92033177 [GRCh38] Chr14:92499520..92499521 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.661C>T (p.Leu221=) | single nucleotide variant | Achondrogenesis, type IA [RCV002603907] | Chr14:92015858 [GRCh38] Chr14:92482202 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.533C>T (p.Ser178Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV002635866] | Chr14:92021611 [GRCh38] Chr14:92487955 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5260+12del | deletion | Achondrogenesis, type IA [RCV003071329] | Chr14:91988272 [GRCh38] Chr14:92454616 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.885A>G (p.Gln295=) | single nucleotide variant | Achondrogenesis, type IA [RCV002608398] | Chr14:92014516 [GRCh38] Chr14:92480860 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1315-12T>C | single nucleotide variant | Achondrogenesis, type IA [RCV003072750] | Chr14:92007864 [GRCh38] Chr14:92474208 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3708A>G (p.Gln1236=) | single nucleotide variant | Achondrogenesis, type IA [RCV003070425] | Chr14:92004268 [GRCh38] Chr14:92470612 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His) | single nucleotide variant | Achondrogenesis, type IA [RCV003070446] | Chr14:91999378 [GRCh38] Chr14:92465722 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3953C>G (p.Ser1318Cys) | single nucleotide variant | Achondrogenesis, type IA [RCV003070447] | Chr14:92004023 [GRCh38] Chr14:92470367 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5161-18T>C | single nucleotide variant | Achondrogenesis, type IA [RCV002633611] | Chr14:91988401 [GRCh38] Chr14:92454745 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.379G>C (p.Ala127Pro) | single nucleotide variant | Achondrogenesis, type IA [RCV002605802] | Chr14:92021765 [GRCh38] Chr14:92488109 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1192G>A (p.Glu398Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV002589925] | Chr14:92011790 [GRCh38] Chr14:92478134 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1295C>T (p.Ser432Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV003051292] | Chr14:92011005 [GRCh38] Chr14:92477349 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4012T>C (p.Leu1338=) | single nucleotide variant | Achondrogenesis, type IA [RCV002680755] | Chr14:92003964 [GRCh38] Chr14:92470308 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4558-18A>T | single nucleotide variant | Achondrogenesis, type IA [RCV003069713] | Chr14:92000126 [GRCh38] Chr14:92466470 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4311C>T (p.Asn1437=) | single nucleotide variant | Achondrogenesis, type IA [RCV002610857] | Chr14:92003665 [GRCh38] Chr14:92470009 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.3823G>A (p.Glu1275Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV003066431] | Chr14:92004153 [GRCh38] Chr14:92470497 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1580G>C (p.Ser527Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV002634986] | Chr14:92006396 [GRCh38] Chr14:92472740 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.2212A>C (p.Lys738Gln) | single nucleotide variant | Achondrogenesis, type IA [RCV002654602] | Chr14:92005764 [GRCh38] Chr14:92472108 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5457+11G>A | single nucleotide variant | Achondrogenesis, type IA [RCV003066993] | Chr14:91975161 [GRCh38] Chr14:92441505 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5458-15A>G | single nucleotide variant | Achondrogenesis, type IA [RCV003093229] | Chr14:91974758 [GRCh38] Chr14:92441102 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.4607A>G (p.Gln1536Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV002943149] | Chr14:92000059 [GRCh38] Chr14:92466403 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5003A>G (p.Gln1668Arg) | single nucleotide variant | Achondrogenesis, type IA [RCV003073191] | Chr14:91995405 [GRCh38] Chr14:92461749 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1924A>G (p.Thr642Ala) | single nucleotide variant | Inborn genetic diseases [RCV003277967] | Chr14:92006052 [GRCh38] Chr14:92472396 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1995T>G (p.Asn665Lys) | single nucleotide variant | Inborn genetic diseases [RCV003300099] | Chr14:92005981 [GRCh38] Chr14:92472325 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3342del (p.His1114_Leu1115insTer) | deletion | not provided [RCV003132961] | Chr14:92004634 [GRCh38] Chr14:92470978 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.5371C>T (p.His1791Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003207721] | Chr14:91975258 [GRCh38] Chr14:92441602 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.922A>G (p.Met308Val) | single nucleotide variant | Inborn genetic diseases [RCV003218799] | Chr14:92014479 [GRCh38] Chr14:92480823 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4679A>G (p.Asn1560Ser) | single nucleotide variant | Inborn genetic diseases [RCV003200603] | Chr14:91999987 [GRCh38] Chr14:92466331 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.811C>G (p.Leu271Val) | single nucleotide variant | Inborn genetic diseases [RCV003282362] | Chr14:92015708 [GRCh38] Chr14:92482052 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4274C>A (p.Ser1425Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003282601] | Chr14:92003702 [GRCh38] Chr14:92470046 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4558-32T>G | single nucleotide variant | not provided [RCV003142822] | Chr14:92000140 [GRCh38] Chr14:92466484 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.720G>C (p.Gln240His) | single nucleotide variant | not provided [RCV003142823] | Chr14:92015799 [GRCh38] Chr14:92482143 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu) | single nucleotide variant | not provided [RCV003142824] | Chr14:91972773 [GRCh38] Chr14:92439117 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1895A>G (p.Asn632Ser) | single nucleotide variant | Inborn genetic diseases [RCV003203584] | Chr14:92006081 [GRCh38] Chr14:92472425 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4501C>G (p.His1501Asp) | single nucleotide variant | Inborn genetic diseases [RCV003219300] | Chr14:92003475 [GRCh38] Chr14:92469819 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4384A>G (p.Lys1462Glu) | single nucleotide variant | Inborn genetic diseases [RCV003358946] | Chr14:92003592 [GRCh38] Chr14:92469936 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.677G>A (p.Ser226Asn) | single nucleotide variant | Inborn genetic diseases [RCV003378777] | Chr14:92015842 [GRCh38] Chr14:92482186 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3632G>A (p.Arg1211His) | single nucleotide variant | Inborn genetic diseases [RCV003354143] | Chr14:92004344 [GRCh38] Chr14:92470688 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1520C>T (p.Ala507Val) | single nucleotide variant | Inborn genetic diseases [RCV003374579] | Chr14:92007647 [GRCh38] Chr14:92473991 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.1867A>T (p.Ile623Leu) | single nucleotide variant | Inborn genetic diseases [RCV003354815] | Chr14:92006109 [GRCh38] Chr14:92472453 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.75C>T (p.Ser25=) | single nucleotide variant | Achondrogenesis, type IA [RCV003506074] | Chr14:92039611 [GRCh38] Chr14:92505955 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.953T>C (p.Ile318Thr) | single nucleotide variant | Achondrogenesis, type IA [RCV003873126] | Chr14:92014448 [GRCh38] Chr14:92480792 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5234A>G (p.Glu1745Gly) | single nucleotide variant | Achondrogenesis, type IA [RCV003505497] | Chr14:91988310 [GRCh38] Chr14:92454654 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.961A>G (p.Lys321Glu) | single nucleotide variant | Achondrogenesis, type IA [RCV003505498] | Chr14:92014440 [GRCh38] Chr14:92480784 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3173del (p.Thr1058fs) | deletion | Achondrogenesis, type IA [RCV003505788] | Chr14:92004803 [GRCh38] Chr14:92471147 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter) | single nucleotide variant | Achondrogenesis, type IA [RCV003505610] | Chr14:91974682 [GRCh38] Chr14:92441026 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.201+14_201+15del | deletion | Achondrogenesis, type IA [RCV003505004] | Chr14:92033177..92033178 [GRCh38] Chr14:92499521..92499522 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg) | microsatellite | Achondrogenesis, type IA [RCV003504715] | Chr14:91969863..91969864 [GRCh38] Chr14:92436207..92436208 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.5549C>T (p.Pro1850Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV003504835] | Chr14:91974652 [GRCh38] Chr14:92440996 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.944_948del (p.Ile315fs) | microsatellite | Achondrogenesis, type IA [RCV003505601] | Chr14:92014453..92014457 [GRCh38] Chr14:92480797..92480801 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.1186+10C>G | single nucleotide variant | Achondrogenesis, type IA [RCV003506258] | Chr14:92014205 [GRCh38] Chr14:92480549 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.589-11_589-10del | deletion | Achondrogenesis, type IA [RCV003506279] | Chr14:92017760..92017761 [GRCh38] Chr14:92484104..92484105 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.2853C>T (p.Asn951=) | single nucleotide variant | Achondrogenesis, type IA [RCV003505505] | Chr14:92005123 [GRCh38] Chr14:92471467 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1622dup (p.Arg542fs) | duplication | Achondrogenesis, type IA [RCV003505561] | Chr14:92006353..92006354 [GRCh38] Chr14:92472697..92472698 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.5261-7A>T | single nucleotide variant | Achondrogenesis, type IA [RCV003506063] | Chr14:91976196 [GRCh38] Chr14:92442540 [GRCh37] Chr14:14q32.12 |
likely benign |
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 | copy number gain | not provided [RCV003485036] | Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33 |
pathogenic |
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 | copy number gain | not provided [RCV003485051] | Chr14:88580184..107285437 [GRCh37] Chr14:14q31.3-32.33 |
pathogenic |
NM_004239.4(TRIP11):c.1942_1943del (p.Glu648fs) | microsatellite | not provided [RCV003393564] | Chr14:92006033..92006034 [GRCh38] Chr14:92472377..92472378 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter) | single nucleotide variant | TRIP11-related condition [RCV003410448] | Chr14:92015762 [GRCh38] Chr14:92482106 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_004239.4(TRIP11):c.4036C>T (p.Gln1346Ter) | single nucleotide variant | TRIP11-related condition [RCV003402819] | Chr14:92003940 [GRCh38] Chr14:92470284 [GRCh37] Chr14:14q32.12 |
likely pathogenic |
NM_004239.4(TRIP11):c.5343-18C>T | single nucleotide variant | Achondrogenesis, type IA [RCV003506645] | Chr14:91975304 [GRCh38] Chr14:92441648 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1186+18C>G | single nucleotide variant | Achondrogenesis, type IA [RCV003506664] | Chr14:92014197 [GRCh38] Chr14:92480541 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu) | single nucleotide variant | Achondrogenesis, type IA [RCV003506502] | Chr14:91969851 [GRCh38] Chr14:92436195 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.4018G>A (p.Glu1340Lys) | single nucleotide variant | Achondrogenesis, type IA [RCV003506378] | Chr14:92003958 [GRCh38] Chr14:92470302 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_004239.4(TRIP11):c.3903C>G (p.Thr1301=) | single nucleotide variant | Achondrogenesis, type IA [RCV003878820] | Chr14:92004073 [GRCh38] Chr14:92470417 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_004239.4(TRIP11):c.1384G>T (p.Asp462Tyr) | single nucleotide variant | Achondrogenesis, type IA [RCV003506428] | Chr14:92007783 [GRCh38] Chr14:92474127 [GRCh37] Chr14:14q32.12 |
benign |
NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser) | single nucleotide variant | Achondrogenesis, type IA [RCV003878046] | Chr14:92003696 [GRCh38] Chr14:92470040 [GRCh37] Chr14:14q32.12 |
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. |
RH41983 |
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TRIP11_7940 |
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STS-J04802 |
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RH17544 |
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RH17653 |
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D15S1477 |
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D8S2279 |
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RH78915 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 890 | 989 | 945 | 167 | 761 | 86 | 2301 | 495 | 962 | 222 | 1061 | 1133 | 95 | 1 | 616 | 1492 | 6 | 2 |
Low | 1549 | 1919 | 781 | 457 | 1111 | 379 | 2054 | 1698 | 2771 | 196 | 399 | 480 | 80 | 588 | 1296 | |||
Below cutoff | 83 | 79 | 1 | 4 | 1 | 1 |
RefSeq Transcripts | NG_016970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001321851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_004239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017021787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017021788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047431935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054377022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001750598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_943560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF007217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF011368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK307489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL049872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL599917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW002857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002656 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC069008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC146845 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM770594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU628691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX113728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX486357 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX641024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471061 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA111770 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT585178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L40380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y12490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000267622 ⟹ ENSP00000267622 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000554357 ⟹ ENSP00000451032 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000555105 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000555516 ⟹ ENSP00000451944 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000557017 ⟹ ENSP00000451607 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001321851 ⟹ NP_001308780 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_004239 ⟹ NP_004230 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047431935 ⟹ XP_047287891 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054377022 ⟹ XP_054232997 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_001750598 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_943560 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001308780 | (Get FASTA) | NCBI Sequence Viewer |
NP_004230 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047287891 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054232997 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB84386 | (Get FASTA) | NCBI Sequence Viewer |
AAC41730 | (Get FASTA) | NCBI Sequence Viewer | |
AAD09135 | (Get FASTA) | NCBI Sequence Viewer | |
AAI46846 | (Get FASTA) | NCBI Sequence Viewer | |
CAA73095 | (Get FASTA) | NCBI Sequence Viewer | |
CAE46015 | (Get FASTA) | NCBI Sequence Viewer | |
EAW81468 | (Get FASTA) | NCBI Sequence Viewer | |
EAW81469 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000267622 | ||
ENSP00000267622.4 | |||
ENSP00000451032 | |||
ENSP00000451032.1 | |||
ENSP00000451607.1 | |||
ENSP00000451944.1 | |||
GenBank Protein | Q15643 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_004230 ⟸ NM_004239 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O95949 (UniProtKB/Swiss-Prot), O15154 (UniProtKB/Swiss-Prot), O14689 (UniProtKB/Swiss-Prot), B2RUT2 (UniProtKB/Swiss-Prot), Q6MZL5 (UniProtKB/Swiss-Prot), Q15643 (UniProtKB/Swiss-Prot), H0YJ97 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308780 ⟸ NM_001321851 |
- Peptide Label: | isoform 2 |
- UniProtKB: | H0YJ97 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000451944 ⟸ ENST00000555516 |
RefSeq Acc Id: | ENSP00000267622 ⟸ ENST00000267622 |
RefSeq Acc Id: | ENSP00000451607 ⟸ ENST00000557017 |
RefSeq Acc Id: | ENSP00000451032 ⟸ ENST00000554357 |
RefSeq Acc Id: | XP_047287891 ⟸ XM_047431935 |
- Peptide Label: | isoform X1 |
- UniProtKB: | H0YJ97 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054232997 ⟸ XM_054377022 |
- Peptide Label: | isoform X1 |
- UniProtKB: | H0YJ97 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q15643-F1-model_v2 | AlphaFold | Q15643 | 1-1979 | view protein structure |
RGD ID: | 6791973 | ||||||||
Promoter ID: | HG_KWN:20023 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | UC001XZY.2, UC001XZZ.2 | ||||||||
Position: |
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RGD ID: | 7228413 | ||||||||
Promoter ID: | EPDNEW_H19952 | ||||||||
Type: | initiation region | ||||||||
Name: | TRIP11_1 | ||||||||
Description: | thyroid hormone receptor interactor 11 | ||||||||
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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Database | Acc Id | Source(s) |
AGR Gene | HGNC:12305 | AgrOrtholog |
COSMIC | TRIP11 | COSMIC |
Ensembl Genes | ENSG00000100815 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000267622 | ENTREZGENE |
ENST00000267622.8 | UniProtKB/Swiss-Prot | |
ENST00000554357 | ENTREZGENE | |
ENST00000554357.5 | UniProtKB/TrEMBL | |
ENST00000555516.6 | UniProtKB/TrEMBL | |
ENST00000557017.1 | UniProtKB/TrEMBL | |
GTEx | ENSG00000100815 | GTEx |
HGNC ID | HGNC:12305 | ENTREZGENE |
Human Proteome Map | TRIP11 | Human Proteome Map |
InterPro | GRIP_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:9321 | UniProtKB/Swiss-Prot |
NCBI Gene | 9321 | ENTREZGENE |
OMIM | 604505 | OMIM |
PANTHER | MYOSIN HEAVY CHAIN - RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
THYROID RECEPTOR-INTERACTING PROTEIN 11 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA36984 | PharmGKB |
PROSITE | GRIP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B2RUT2 | ENTREZGENE |
G3V4R7_HUMAN | UniProtKB/TrEMBL | |
H0YJ97 | ENTREZGENE, UniProtKB/TrEMBL | |
H0YJI2_HUMAN | UniProtKB/TrEMBL | |
O14689 | ENTREZGENE | |
O15154 | ENTREZGENE | |
O95949 | ENTREZGENE | |
Q15643 | ENTREZGENE | |
Q6MZL5 | ENTREZGENE | |
TRIPB_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B2RUT2 | UniProtKB/Swiss-Prot |
O14689 | UniProtKB/Swiss-Prot | |
O15154 | UniProtKB/Swiss-Prot | |
O95949 | UniProtKB/Swiss-Prot | |
Q6MZL5 | UniProtKB/Swiss-Prot |