Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | retinitis pigmentosa | | ISS | Cep250 (Mus musculus) | 13592920 | | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | retinitis pigmentosa | | ISS | Cep250 (Mus musculus) | 13592920 | | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7790358 | PMID:9506584 | PMID:9647649 | PMID:10880350 | PMID:11035016 | PMID:11076968 | PMID:11780052 | PMID:12140259 | PMID:12221128 | PMID:12477932 | PMID:12852856 | PMID:12857871 |
PMID:15231748 | PMID:15324660 | PMID:15489334 | PMID:15604093 | PMID:16462731 | PMID:17979178 | PMID:18391951 | PMID:18851962 | PMID:19056867 | PMID:20189936 | PMID:20300119 | PMID:20508983 |
PMID:20546612 | PMID:20618440 | PMID:20708153 | PMID:20936779 | PMID:21399614 | PMID:21697133 | PMID:21832049 | PMID:21873635 | PMID:22658674 | PMID:23070519 | PMID:23128233 | PMID:23213374 |
PMID:23443559 | PMID:23789104 | PMID:24421332 | PMID:24554434 | PMID:24613305 | PMID:24695856 | PMID:24780881 | PMID:24927568 | PMID:25429064 | PMID:25660448 | PMID:26186194 | PMID:26337392 |
PMID:26496610 | PMID:26760575 | PMID:26949739 | PMID:27623382 | PMID:28005958 | PMID:28100636 | PMID:28514442 | PMID:28718761 | PMID:29117863 | PMID:29478914 | PMID:29718797 | PMID:30021884 |
PMID:30404835 | PMID:30459346 | PMID:30581152 | PMID:30998843 | PMID:31586073 | PMID:31871319 | PMID:31974111 | PMID:32353859 | PMID:32707033 | PMID:32814053 | PMID:32838362 | PMID:33060197 |
PMID:33109182 | PMID:33766124 | PMID:33961781 | PMID:34079125 | PMID:34223797 | PMID:35271311 | PMID:35729462 | PMID:36215168 | PMID:36217029 | PMID:36243803 | PMID:37689310 |
CEP250 (Homo sapiens - human) |
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Cep250 (Mus musculus - house mouse) |
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Cep250 (Rattus norvegicus - Norway rat) |
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Cep250 (Chinchilla lanigera - long-tailed chinchilla) |
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CEP250 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CEP250 (Canis lupus familiaris - dog) |
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Cep250 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CEP250 (Sus scrofa - pig) |
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CEP250 (Chlorocebus sabaeus - green monkey) |
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Cep250 (Heterocephalus glaber - naked mole-rat) |
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Variants in CEP250
1238 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_007186.6(CEP250):c.3711C>T (p.Ser1237=) | single nucleotide variant | not provided [RCV001494107] | Chr20:35498650 [GRCh38] Chr20:34086479 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4075C>T (p.His1359Tyr) | single nucleotide variant | not provided [RCV001870657] | Chr20:35502444 [GRCh38] Chr20:34090272 [GRCh37] Chr20:20q11.22 |
uncertain significance |
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] | Chr20:34541747..39663219 [GRCh38] Chr20:33129551..38291861 [GRCh37] Chr20:32593212..37725275 [NCBI36] Chr20:20q11.22-12 |
pathogenic |
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] | Chr20:34249453..43359749 [GRCh38] Chr20:32837259..41988389 [GRCh37] Chr20:32300920..41421803 [NCBI36] Chr20:20q11.22-13.11 |
pathogenic |
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 | copy number gain | See cases [RCV000052999] | Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12 |
pathogenic |
NM_007186.4(CEP250):c.1773A>G (p.Val591=) | single nucleotide variant | Malignant melanoma [RCV000072602] | Chr20:35476505 [GRCh38] Chr20:34064330 [GRCh37] Chr20:33527744 [NCBI36] Chr20:20q11.22 |
not provided |
NM_007186.4(CEP250):c.1774G>C (p.Ala592Pro) | single nucleotide variant | Malignant melanoma [RCV000072603] | Chr20:35476506 [GRCh38] Chr20:34064331 [GRCh37] Chr20:33527745 [NCBI36] Chr20:20q11.22 |
not provided |
NM_007186.6(CEP250):c.5347C>G (p.Leu1783Val) | single nucleotide variant | not provided [RCV001303250] | Chr20:35503716 [GRCh38] Chr20:34091544 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2596C>T (p.Arg866Cys) | single nucleotide variant | not provided [RCV001302568] | Chr20:35490646 [GRCh38] Chr20:34078472 [GRCh37] Chr20:20q11.22 |
uncertain significance |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 | copy number loss | See cases [RCV000135440] | Chr20:33432363..36821881 [GRCh38] Chr20:32020169..35450284 [GRCh37] Chr20:31483830..34883698 [NCBI36] Chr20:20q11.21-11.23 |
pathogenic |
GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1 | copy number loss | See cases [RCV000141309] | Chr20:35285724..35744837 [GRCh38] Chr20:33873527..34332759 [GRCh37] Chr20:33336941..33796173 [NCBI36] Chr20:20q11.22 |
pathogenic |
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 | copy number loss | See cases [RCV000140816] | Chr20:35237946..47631818 [GRCh38] Chr20:33825749..46260562 [GRCh37] Chr20:33289165..45693969 [NCBI36] Chr20:20q11.22-13.12 |
pathogenic |
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 | copy number gain | See cases [RCV000141833] | Chr20:32062768..35906606 [GRCh38] Chr20:30650571..34494528 [GRCh37] Chr20:30114232..33957942 [NCBI36] Chr20:20q11.21-11.23 |
pathogenic |
NM_007186.6(CEP250):c.3389C>A (p.Ala1130Glu) | single nucleotide variant | not provided [RCV002284866] | Chr20:35497801 [GRCh38] Chr20:34085630 [GRCh37] Chr20:20q11.22 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_007186.6(CEP250):c.5684A>C (p.Glu1895Ala) | single nucleotide variant | Inborn genetic diseases [RCV003261892] | Chr20:35504053 [GRCh38] Chr20:34091881 [GRCh37] Chr20:20q11.22 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_007186.6(CEP250):c.3214C>G (p.Gln1072Glu) | single nucleotide variant | not provided [RCV000962734] | Chr20:35496623 [GRCh38] Chr20:34084452 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6750+6C>G | single nucleotide variant | not provided [RCV000962736] | Chr20:35507857 [GRCh38] Chr20:34095686 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6907-191T>C | single nucleotide variant | not provided [RCV001707468] | Chr20:35508752 [GRCh38] Chr20:34096581 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) | single nucleotide variant | Cone-rod dystrophy and hearing loss 2 [RCV000761198]|Usher syndrome [RCV001002934] | Chr20:35497875 [GRCh38] Chr20:34085704 [GRCh37] Chr20:20q11.22 |
pathogenic|likely pathogenic |
NM_007186.6(CEP250):c.361C>T (p.Arg121Ter) | single nucleotide variant | Cone-rod dystrophy and hearing loss 2 [RCV000761199] | Chr20:35466073 [GRCh38] Chr20:34053898 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.562C>T (p.Arg188Ter) | single nucleotide variant | Cone-rod dystrophy and hearing loss 2 [RCV000761200] | Chr20:35467035 [GRCh38] Chr20:34054860 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) | single nucleotide variant | Cone-rod dystrophy and hearing loss 2 [RCV000761202]|not provided [RCV001268229] | Chr20:35501952 [GRCh38] Chr20:34089779 [GRCh37] Chr20:20q11.22 |
pathogenic|likely pathogenic |
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter) | single nucleotide variant | Cone-rod dystrophy and hearing loss 2 [RCV000761201] | Chr20:35497749 [GRCh38] Chr20:34085578 [GRCh37] Chr20:20q11.22 |
pathogenic|likely pathogenic |
NM_007186.6(CEP250):c.5858G>A (p.Arg1953Gln) | single nucleotide variant | not provided [RCV001052032] | Chr20:35504227 [GRCh38] Chr20:34092055 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6446A>G (p.Gln2149Arg) | single nucleotide variant | not provided [RCV001060213] | Chr20:35504815 [GRCh38] Chr20:34092643 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5090G>A (p.Arg1697Gln) | single nucleotide variant | Inborn genetic diseases [RCV002553351]|not provided [RCV001054790] | Chr20:35503459 [GRCh38] Chr20:34091287 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5615A>T (p.Glu1872Val) | single nucleotide variant | not provided [RCV001055581] | Chr20:35503984 [GRCh38] Chr20:34091812 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1441G>A (p.Val481Met) | single nucleotide variant | not provided [RCV001058519] | Chr20:35473922 [GRCh38] Chr20:34061747 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.949-200= | single nucleotide variant | not provided [RCV001612141] | Chr20:35471850 [GRCh38] Chr20:34059675 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.4189A>G (p.Ser1397Gly) | single nucleotide variant | not provided [RCV001058996] | Chr20:35502558 [GRCh38] Chr20:34090386 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2569C>A (p.Gln857Lys) | single nucleotide variant | not provided [RCV001058096] | Chr20:35480128 [GRCh38] Chr20:34067953 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2641G>A (p.Glu881Lys) | single nucleotide variant | not provided [RCV000948492] | Chr20:35490691 [GRCh38] Chr20:34078517 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6016G>A (p.Asp2006Asn) | single nucleotide variant | not provided [RCV000948493] | Chr20:35504385 [GRCh38] Chr20:34092213 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_007186.6(CEP250):c.5974C>T (p.Arg1992Cys) | single nucleotide variant | not provided [RCV000905595] | Chr20:35504343 [GRCh38] Chr20:34092171 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4773C>T (p.Thr1591=) | single nucleotide variant | not provided [RCV000943760] | Chr20:35503142 [GRCh38] Chr20:34090970 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3389C>T (p.Ala1130Val) | single nucleotide variant | not provided [RCV000966490] | Chr20:35497801 [GRCh38] Chr20:34085630 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3381G>A (p.Glu1127=) | single nucleotide variant | not provided [RCV000971438] | Chr20:35497793 [GRCh38] Chr20:34085622 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1827G>A (p.Ala609=) | single nucleotide variant | not provided [RCV000972096] | Chr20:35476559 [GRCh38] Chr20:34064384 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6211G>A (p.Glu2071Lys) | single nucleotide variant | not provided [RCV000969121] | Chr20:35504580 [GRCh38] Chr20:34092408 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.5448C>G (p.Asp1816Glu) | single nucleotide variant | not provided [RCV001071031] | Chr20:35503817 [GRCh38] Chr20:34091645 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4004A>G (p.Gln1335Arg) | single nucleotide variant | not provided [RCV001062716] | Chr20:35501950 [GRCh38] Chr20:34089777 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7145G>A (p.Arg2382His) | single nucleotide variant | not provided [RCV001045851] | Chr20:35511442 [GRCh38] Chr20:34099271 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.493-1G>A | single nucleotide variant | not provided [RCV001046413] | Chr20:35466965 [GRCh38] Chr20:34054790 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_007186.6(CEP250):c.2120C>T (p.Thr707Met) | single nucleotide variant | not provided [RCV001046415] | Chr20:35479256 [GRCh38] Chr20:34067081 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3988C>T (p.Arg1330Trp) | single nucleotide variant | not provided [RCV001046756] | Chr20:35501934 [GRCh38] Chr20:34089761 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1534G>A (p.Glu512Lys) | single nucleotide variant | not provided [RCV001047107] | Chr20:35474015 [GRCh38] Chr20:34061840 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5383dup (p.Glu1795fs) | duplication | not provided [RCV001036877] | Chr20:35503748..35503749 [GRCh38] Chr20:34091576..34091577 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.1380T>C (p.Ser460=) | single nucleotide variant | not provided [RCV000976688] | Chr20:35473544 [GRCh38] Chr20:34061369 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3738C>T (p.His1246=) | single nucleotide variant | not provided [RCV000962735] | Chr20:35498677 [GRCh38] Chr20:34086506 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2391C>T (p.Val797=) | single nucleotide variant | Cone-rod dystrophy and hearing loss 2 [RCV002501368]|not provided [RCV000880057] | Chr20:35479748 [GRCh38] Chr20:34067573 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_007186.6(CEP250):c.6150G>A (p.Glu2050=) | single nucleotide variant | not provided [RCV000962807] | Chr20:35504519 [GRCh38] Chr20:34092347 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3177= (p.Leu1059=) | variation | not provided [RCV000971437] | Chr20:35496586 [GRCh38] Chr20:34084415 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.5050del (p.Asp1684fs) | deletion | not provided [RCV001051875] | Chr20:35503418 [GRCh38] Chr20:34091246 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.4632G>T (p.Gln1544His) | single nucleotide variant | Inborn genetic diseases [RCV002553870]|not provided [RCV001059682] | Chr20:35503001 [GRCh38] Chr20:34090829 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4168C>G (p.Leu1390Val) | single nucleotide variant | not provided [RCV001053793] | Chr20:35502537 [GRCh38] Chr20:34090365 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5119C>G (p.Gln1707Glu) | single nucleotide variant | not provided [RCV001054123] | Chr20:35503488 [GRCh38] Chr20:34091316 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.384C>T (p.Asp128=) | single nucleotide variant | not provided [RCV000898672] | Chr20:35466096 [GRCh38] Chr20:34053921 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4573G>C (p.Glu1525Gln) | single nucleotide variant | Inborn genetic diseases [RCV003268469] | Chr20:35502942 [GRCh38] Chr20:34090770 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6083A>T (p.Asp2028Val) | single nucleotide variant | not provided [RCV001055795] | Chr20:35504452 [GRCh38] Chr20:34092280 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4420C>A (p.Leu1474Met) | single nucleotide variant | not provided [RCV001055910] | Chr20:35502789 [GRCh38] Chr20:34090617 [GRCh37] Chr20:20q11.22 |
uncertain significance |
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 | copy number gain | not provided [RCV000849735] | Chr20:29833608..35087952 [GRCh37] Chr20:20q11.21-11.23 |
pathogenic |
NM_007186.6(CEP250):c.6532C>T (p.Leu2178Phe) | single nucleotide variant | not provided [RCV001213463] | Chr20:35504901 [GRCh38] Chr20:34092729 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3173C>G (p.Thr1058Ser) | single nucleotide variant | not provided [RCV001213715] | Chr20:35496582 [GRCh38] Chr20:34084411 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3616G>C (p.Gly1206Arg) | single nucleotide variant | not provided [RCV001242498] | Chr20:35498028 [GRCh38] Chr20:34085857 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5970G>T (p.Leu1990Phe) | single nucleotide variant | not provided [RCV001233125] | Chr20:35504339 [GRCh38] Chr20:34092167 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.600-3C>T | single nucleotide variant | not provided [RCV001236593] | Chr20:35467301 [GRCh38] Chr20:34055126 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3251C>T (p.Ala1084Val) | single nucleotide variant | not provided [RCV001213450] | Chr20:35496660 [GRCh38] Chr20:34084489 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.700G>A (p.Gly234Arg) | single nucleotide variant | not provided [RCV001225698] | Chr20:35467404 [GRCh38] Chr20:34055229 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4148C>T (p.Thr1383Met) | single nucleotide variant | not provided [RCV001226868] | Chr20:35502517 [GRCh38] Chr20:34090345 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2249G>A (p.Arg750His) | single nucleotide variant | not provided [RCV001226890] | Chr20:35479385 [GRCh38] Chr20:34067210 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.949-3C>T | single nucleotide variant | not provided [RCV001231031] | Chr20:35472047 [GRCh38] Chr20:34059872 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3470G>A (p.Arg1157His) | single nucleotide variant | not provided [RCV001238760] | Chr20:35497882 [GRCh38] Chr20:34085711 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1195C>T (p.Arg399Cys) | single nucleotide variant | not provided [RCV001238910] | Chr20:35472817 [GRCh38] Chr20:34060642 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val) | single nucleotide variant | not provided [RCV001243357]|not specified [RCV001796410] | Chr20:35498041 [GRCh38] Chr20:34085870 [GRCh37] Chr20:20q11.22 |
benign|uncertain significance |
NM_007186.6(CEP250):c.2932C>T (p.Arg978Trp) | single nucleotide variant | not provided [RCV001226624] | Chr20:35493471 [GRCh38] Chr20:34081298 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2725C>T (p.Arg909Trp) | single nucleotide variant | Inborn genetic diseases [RCV003246801]|not provided [RCV001242853] | Chr20:35490775 [GRCh38] Chr20:34078601 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6270G>C (p.Arg2090Ser) | single nucleotide variant | not provided [RCV001231832] | Chr20:35504639 [GRCh38] Chr20:34092467 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3256C>T (p.Arg1086Cys) | single nucleotide variant | not provided [RCV001233773] | Chr20:35496665 [GRCh38] Chr20:34084494 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7207G>C (p.Glu2403Gln) | single nucleotide variant | not provided [RCV001237467] | Chr20:35511504 [GRCh38] Chr20:34099333 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5138G>A (p.Gly1713Glu) | single nucleotide variant | not provided [RCV001237381] | Chr20:35503507 [GRCh38] Chr20:34091335 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.527G>A (p.Arg176His) | single nucleotide variant | not provided [RCV001209327] | Chr20:35467000 [GRCh38] Chr20:34054825 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4943A>G (p.His1648Arg) | single nucleotide variant | not provided [RCV001243146] | Chr20:35503312 [GRCh38] Chr20:34091140 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3383T>C (p.Leu1128Pro) | single nucleotide variant | not provided [RCV001237724] | Chr20:35497795 [GRCh38] Chr20:34085624 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4762G>C (p.Val1588Leu) | single nucleotide variant | not provided [RCV001209583] | Chr20:35503131 [GRCh38] Chr20:34090959 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1716+4C>T | single nucleotide variant | not provided [RCV001240308] | Chr20:35475650 [GRCh38] Chr20:34063475 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.247C>T (p.Pro83Ser) | single nucleotide variant | not provided [RCV001227455] | Chr20:35465746 [GRCh38] Chr20:34053571 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1190G>A (p.Arg397Gln) | single nucleotide variant | Inborn genetic diseases [RCV002564066]|not provided [RCV001243545] | Chr20:35472812 [GRCh38] Chr20:34060637 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_007186.6(CEP250):c.3257G>A (p.Arg1086His) | single nucleotide variant | Inborn genetic diseases [RCV002563956]|not provided [RCV001239776] | Chr20:35496666 [GRCh38] Chr20:34084495 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2669G>C (p.Arg890Thr) | single nucleotide variant | Inborn genetic diseases [RCV002562610]|not provided [RCV001226424] | Chr20:35490719 [GRCh38] Chr20:34078545 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1513G>A (p.Gly505Ser) | single nucleotide variant | not provided [RCV001232328] | Chr20:35473994 [GRCh38] Chr20:34061819 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2738A>G (p.Glu913Gly) | single nucleotide variant | not provided [RCV001235578] | Chr20:35490788 [GRCh38] Chr20:34078614 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4738G>A (p.Glu1580Lys) | single nucleotide variant | not provided [RCV001238779] | Chr20:35503107 [GRCh38] Chr20:34090935 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.794A>T (p.Gln265Leu) | single nucleotide variant | not provided [RCV001238600] | Chr20:35467498 [GRCh38] Chr20:34055323 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3229A>G (p.Ile1077Val) | single nucleotide variant | not provided [RCV001228844] | Chr20:35496638 [GRCh38] Chr20:34084467 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5548G>A (p.Ala1850Thr) | single nucleotide variant | not provided [RCV001201998] | Chr20:35503917 [GRCh38] Chr20:34091745 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3733C>T (p.Leu1245Phe) | single nucleotide variant | not provided [RCV001238698] | Chr20:35498672 [GRCh38] Chr20:34086501 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.304C>T (p.Arg102Ter) | single nucleotide variant | not provided [RCV001207671] | Chr20:35465803 [GRCh38] Chr20:34053628 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.1315A>C (p.Lys439Gln) | single nucleotide variant | not provided [RCV001226196] | Chr20:35473479 [GRCh38] Chr20:34061304 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4895_4897dup (p.Val1632_Lys1633insMet) | duplication | not provided [RCV001230112] | Chr20:35503263..35503264 [GRCh38] Chr20:34091091..34091092 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1689A>C (p.Gln563His) | single nucleotide variant | not provided [RCV001229462] | Chr20:35475619 [GRCh38] Chr20:34063444 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5572C>A (p.His1858Asn) | single nucleotide variant | Inborn genetic diseases [RCV002563186]|not provided [RCV001230565] | Chr20:35503941 [GRCh38] Chr20:34091769 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2863A>G (p.Met955Val) | single nucleotide variant | not provided [RCV001229093] | Chr20:35491320 [GRCh38] Chr20:34079146 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3917G>A (p.Gly1306Glu) | single nucleotide variant | not provided [RCV001212386] | Chr20:35501863 [GRCh38] Chr20:34089690 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.227G>A (p.Arg76Gln) | single nucleotide variant | not provided [RCV001052985] | Chr20:35463615 [GRCh38] Chr20:34051440 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3655+4A>T | single nucleotide variant | not provided [RCV001201498] | Chr20:35498071 [GRCh38] Chr20:34085900 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1301G>C (p.Arg434Thr) | single nucleotide variant | Inborn genetic diseases [RCV002563168]|not provided [RCV001229657] | Chr20:35473465 [GRCh38] Chr20:34061290 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.320A>G (p.Gln107Arg) | single nucleotide variant | not provided [RCV001245714] | Chr20:35465819 [GRCh38] Chr20:34053644 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5625G>A (p.Leu1875=) | single nucleotide variant | not provided [RCV003104750] | Chr20:35503994 [GRCh38] Chr20:34091822 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2659C>T (p.Leu887=) | single nucleotide variant | not provided [RCV003106822] | Chr20:35490709 [GRCh38] Chr20:34078535 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6751-48A>G | single nucleotide variant | not provided [RCV001638358] | Chr20:35507987 [GRCh38] Chr20:34095816 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1863+58C>T | single nucleotide variant | not provided [RCV001720637] | Chr20:35476653 [GRCh38] Chr20:34064478 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2889+65G>A | single nucleotide variant | not provided [RCV001693627] | Chr20:35491411 [GRCh38] Chr20:34079237 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1175G>T (p.Arg392Leu) | single nucleotide variant | not provided [RCV001888991] | Chr20:35472797 [GRCh38] Chr20:34060622 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1837G>T (p.Val613Phe) | single nucleotide variant | not provided [RCV000887186] | Chr20:35476569 [GRCh38] Chr20:34064394 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6951G>A (p.Ala2317=) | single nucleotide variant | not provided [RCV000965470] | Chr20:35508987 [GRCh38] Chr20:34096816 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.679G>A (p.Ala227Thr) | single nucleotide variant | not provided [RCV000962717] | Chr20:35467383 [GRCh38] Chr20:34055208 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2954G>A (p.Arg985Gln) | single nucleotide variant | not provided [RCV000962718] | Chr20:35493493 [GRCh38] Chr20:34081320 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2985A>T (p.Gln995His) | single nucleotide variant | not provided [RCV000885435] | Chr20:35493524 [GRCh38] Chr20:34081351 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1213C>T (p.Leu405=) | single nucleotide variant | not provided [RCV000966489] | Chr20:35473377 [GRCh38] Chr20:34061202 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4782G>A (p.Thr1594=) | single nucleotide variant | not provided [RCV000953392] | Chr20:35503151 [GRCh38] Chr20:34090979 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6943A>G (p.Met2315Val) | single nucleotide variant | not provided [RCV000971439] | Chr20:35508979 [GRCh38] Chr20:34096808 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6611G>A (p.Arg2204Gln) | single nucleotide variant | not provided [RCV000886459] | Chr20:35504980 [GRCh38] Chr20:34092808 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.913A>G (p.Met305Val) | single nucleotide variant | not provided [RCV001207305] | Chr20:35469951 [GRCh38] Chr20:34057776 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1894A>G (p.Arg632Gly) | single nucleotide variant | not provided [RCV001247435] | Chr20:35477901 [GRCh38] Chr20:34065726 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2078A>G (p.Gln693Arg) | single nucleotide variant | not provided [RCV001244661] | Chr20:35478085 [GRCh38] Chr20:34065910 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4272_4273delinsT (p.Leu1425fs) | indel | not provided [RCV001244680] | Chr20:35502641..35502642 [GRCh38] Chr20:34090469..34090470 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.4879G>A (p.Glu1627Lys) | single nucleotide variant | not provided [RCV001239399] | Chr20:35503248 [GRCh38] Chr20:34091076 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6515A>G (p.Lys2172Arg) | single nucleotide variant | not provided [RCV001219561] | Chr20:35504884 [GRCh38] Chr20:34092712 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4357A>G (p.Met1453Val) | single nucleotide variant | not provided [RCV001219569] | Chr20:35502726 [GRCh38] Chr20:34090554 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2248C>T (p.Arg750Cys) | single nucleotide variant | not provided [RCV001245053] | Chr20:35479384 [GRCh38] Chr20:34067209 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.599+5G>A | single nucleotide variant | not provided [RCV001203770] | Chr20:35467077 [GRCh38] Chr20:34054902 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1242G>C (p.Glu414Asp) | single nucleotide variant | not provided [RCV001245422] | Chr20:35473406 [GRCh38] Chr20:34061231 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3581G>A (p.Gly1194Glu) | single nucleotide variant | not provided [RCV001245423] | Chr20:35497993 [GRCh38] Chr20:34085822 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1174C>T (p.Arg392Cys) | single nucleotide variant | not provided [RCV001216939] | Chr20:35472796 [GRCh38] Chr20:34060621 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6872G>A (p.Arg2291His) | single nucleotide variant | not provided [RCV001208907] | Chr20:35508156 [GRCh38] Chr20:34095985 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4028G>A (p.Arg1343Gln) | single nucleotide variant | not provided [RCV001237368] | Chr20:35502397 [GRCh38] Chr20:34090225 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1462C>T (p.Arg488Cys) | single nucleotide variant | not provided [RCV001209240] | Chr20:35473943 [GRCh38] Chr20:34061768 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3712G>A (p.Ala1238Thr) | single nucleotide variant | Inborn genetic diseases [RCV003259177]|not provided [RCV001227888] | Chr20:35498651 [GRCh38] Chr20:34086480 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_007186.6(CEP250):c.305G>A (p.Arg102Gln) | single nucleotide variant | not provided [RCV001206157] | Chr20:35465804 [GRCh38] Chr20:34053629 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3467T>G (p.Leu1156Arg) | single nucleotide variant | not provided [RCV001206513] | Chr20:35497879 [GRCh38] Chr20:34085708 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5238T>G (p.His1746Gln) | single nucleotide variant | not provided [RCV001234867] | Chr20:35503607 [GRCh38] Chr20:34091435 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5855C>G (p.Ser1952Cys) | single nucleotide variant | Inborn genetic diseases [RCV002563902]|not provided [RCV001238010] | Chr20:35504224 [GRCh38] Chr20:34092052 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1354G>A (p.Val452Met) | single nucleotide variant | not provided [RCV001227629] | Chr20:35473518 [GRCh38] Chr20:34061343 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2707G>A (p.Ala903Thr) | single nucleotide variant | not provided [RCV001238257] | Chr20:35490757 [GRCh38] Chr20:34078583 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7294C>A (p.Pro2432Thr) | single nucleotide variant | not provided [RCV001228066] | Chr20:35511591 [GRCh38] Chr20:34099420 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2549C>T (p.Ala850Val) | single nucleotide variant | not provided [RCV001228095] | Chr20:35480108 [GRCh38] Chr20:34067933 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3776G>A (p.Arg1259Gln) | single nucleotide variant | not provided [RCV001244104] | Chr20:35498715 [GRCh38] Chr20:34086544 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5478G>A (p.Gln1826=) | single nucleotide variant | not provided [RCV000958030] | Chr20:35503847 [GRCh38] Chr20:34091675 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1389-117= | single nucleotide variant | not provided [RCV001688690] | Chr20:35473753 [GRCh38] Chr20:34061578 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6907-47A>G | single nucleotide variant | not provided [RCV001621412] | Chr20:35508896 [GRCh38] Chr20:34096725 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3033+28A>G | single nucleotide variant | not provided [RCV001677896] | Chr20:35493600 [GRCh38] Chr20:34081427 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1051-212T>C | single nucleotide variant | not provided [RCV001677951] | Chr20:35472461 [GRCh38] Chr20:34060286 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2597G>A (p.Arg866His) | single nucleotide variant | not provided [RCV001062715] | Chr20:35490647 [GRCh38] Chr20:34078473 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_007186.6(CEP250):c.493-182= | single nucleotide variant | not provided [RCV001616859] | Chr20:35466784 [GRCh38] Chr20:34054609 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6545A>C (p.Gln2182Pro) | single nucleotide variant | not provided [RCV001068546] | Chr20:35504914 [GRCh38] Chr20:34092742 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3656-244G>C | single nucleotide variant | not provided [RCV001707203] | Chr20:35498351 [GRCh38] Chr20:34086180 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2586+190A>G | single nucleotide variant | not provided [RCV001714227] | Chr20:35480335 [GRCh38] Chr20:34068160 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1863+81C>G | single nucleotide variant | not provided [RCV001538210] | Chr20:35476676 [GRCh38] Chr20:34064501 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1571+41T>C | single nucleotide variant | not provided [RCV001709122] | Chr20:35474093 [GRCh38] Chr20:34061918 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.5965G>C (p.Glu1989Gln) | single nucleotide variant | not provided [RCV001057905] | Chr20:35504334 [GRCh38] Chr20:34092162 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1572-232C>T | single nucleotide variant | not provided [RCV001690624] | Chr20:35475270 [GRCh38] Chr20:34063095 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2889+28= | single nucleotide variant | not provided [RCV001679651] | Chr20:35491374 [GRCh38] Chr20:34079200 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2230C>T (p.Arg744Trp) | single nucleotide variant | not provided [RCV001066673] | Chr20:35479366 [GRCh38] Chr20:34067191 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6841C>T (p.Arg2281Trp) | single nucleotide variant | not provided [RCV001231435] | Chr20:35508125 [GRCh38] Chr20:34095954 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6691G>C (p.Gly2231Arg) | single nucleotide variant | Inborn genetic diseases [RCV002567905]|not provided [RCV001236710] | Chr20:35507792 [GRCh38] Chr20:34095621 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4352G>A (p.Arg1451Gln) | single nucleotide variant | not provided [RCV001233530] | Chr20:35502721 [GRCh38] Chr20:34090549 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4990_4992del (p.Lys1664del) | deletion | not provided [RCV001040931] | Chr20:35503357..35503359 [GRCh38] Chr20:34091185..34091187 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4105G>A (p.Ala1369Thr) | single nucleotide variant | Inborn genetic diseases [RCV003243468]|not provided [RCV001069762] | Chr20:35502474 [GRCh38] Chr20:34090302 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2575C>T (p.Arg859Trp) | single nucleotide variant | Inborn genetic diseases [RCV002553080]|not provided [RCV001041756] | Chr20:35480134 [GRCh38] Chr20:34067959 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2486C>T (p.Ala829Val) | single nucleotide variant | not provided [RCV001049951] | Chr20:35480045 [GRCh38] Chr20:34067870 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1826C>T (p.Ala609Val) | single nucleotide variant | Retinal dystrophy [RCV001089881]|not provided [RCV001065133] | Chr20:35476558 [GRCh38] Chr20:34064383 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3704C>T (p.Ala1235Val) | single nucleotide variant | not provided [RCV001041893] | Chr20:35498643 [GRCh38] Chr20:34086472 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5727G>C (p.Gln1909His) | single nucleotide variant | not provided [RCV001212567] | Chr20:35504096 [GRCh38] Chr20:34091924 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6947G>A (p.Arg2316His) | single nucleotide variant | not provided [RCV001201678] | Chr20:35508983 [GRCh38] Chr20:34096812 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4435A>G (p.Ile1479Val) | single nucleotide variant | not provided [RCV001208652] | Chr20:35502804 [GRCh38] Chr20:34090632 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4346A>G (p.Lys1449Arg) | single nucleotide variant | not provided [RCV001230289] | Chr20:35502715 [GRCh38] Chr20:34090543 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6998C>T (p.Pro2333Leu) | single nucleotide variant | Inborn genetic diseases [RCV002562506]|not provided [RCV001220427] | Chr20:35509034 [GRCh38] Chr20:34096863 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5947C>T (p.His1983Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002563885]|not provided [RCV001237327] | Chr20:35504316 [GRCh38] Chr20:34092144 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1066G>T (p.Gly356Trp) | single nucleotide variant | not provided [RCV001035059] | Chr20:35472688 [GRCh38] Chr20:34060513 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2332C>A (p.Gln778Lys) | single nucleotide variant | not provided [RCV001204883] | Chr20:35479689 [GRCh38] Chr20:34067514 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1990C>G (p.Leu664Val) | single nucleotide variant | not provided [RCV001235109] | Chr20:35477997 [GRCh38] Chr20:34065822 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.257A>G (p.Gln86Arg) | single nucleotide variant | not provided [RCV001063871] | Chr20:35465756 [GRCh38] Chr20:34053581 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.859G>A (p.Glu287Lys) | single nucleotide variant | not provided [RCV001045348] | Chr20:35469897 [GRCh38] Chr20:34057722 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.482T>C (p.Met161Thr) | single nucleotide variant | not provided [RCV001045809] | Chr20:35466194 [GRCh38] Chr20:34054019 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6556A>G (p.Ser2186Gly) | single nucleotide variant | not provided [RCV001205190] | Chr20:35504925 [GRCh38] Chr20:34092753 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.277G>A (p.Glu93Lys) | single nucleotide variant | not provided [RCV001232418] | Chr20:35465776 [GRCh38] Chr20:34053601 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6086A>G (p.Gln2029Arg) | single nucleotide variant | not provided [RCV001065017] | Chr20:35504455 [GRCh38] Chr20:34092283 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7085A>T (p.Gln2362Leu) | single nucleotide variant | not provided [RCV001037861] | Chr20:35511382 [GRCh38] Chr20:34099211 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5092G>A (p.Glu1698Lys) | single nucleotide variant | not provided [RCV001046174] | Chr20:35503461 [GRCh38] Chr20:34091289 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3388G>A (p.Ala1130Thr) | single nucleotide variant | not provided [RCV001046330] | Chr20:35497800 [GRCh38] Chr20:34085629 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6957G>C (p.Gln2319His) | single nucleotide variant | not provided [RCV001046428] | Chr20:35508993 [GRCh38] Chr20:34096822 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2890-2A>G | single nucleotide variant | not provided [RCV001202582] | Chr20:35493427 [GRCh38] Chr20:34081254 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_007186.6(CEP250):c.7100G>A (p.Arg2367Gln) | single nucleotide variant | not provided [RCV001202309] | Chr20:35511397 [GRCh38] Chr20:34099226 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5857C>T (p.Arg1953Trp) | single nucleotide variant | not provided [RCV001216940] | Chr20:35504226 [GRCh38] Chr20:34092054 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6750+5G>A | single nucleotide variant | not provided [RCV001066462] | Chr20:35507856 [GRCh38] Chr20:34095685 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4068G>C (p.Gln1356His) | single nucleotide variant | not provided [RCV001039155] | Chr20:35502437 [GRCh38] Chr20:34090265 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6028G>T (p.Ala2010Ser) | single nucleotide variant | not provided [RCV001067286] | Chr20:35504397 [GRCh38] Chr20:34092225 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7065+4T>C | single nucleotide variant | not provided [RCV001034763] | Chr20:35510058 [GRCh38] Chr20:34097887 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2548G>A (p.Ala850Thr) | single nucleotide variant | not provided [RCV001037537] | Chr20:35480107 [GRCh38] Chr20:34067932 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1717-3del | deletion | not provided [RCV001039503] | Chr20:35476441 [GRCh38] Chr20:34064266 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6377C>T (p.Pro2126Leu) | single nucleotide variant | not provided [RCV001215281] | Chr20:35504746 [GRCh38] Chr20:34092574 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2953C>T (p.Arg985Trp) | single nucleotide variant | not provided [RCV001203330] | Chr20:35493492 [GRCh38] Chr20:34081319 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4388_4389del (p.Leu1463fs) | deletion | not provided [RCV001214327] | Chr20:35502757..35502758 [GRCh38] Chr20:34090585..34090586 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.2456G>A (p.Arg819Gln) | single nucleotide variant | not provided [RCV001042310] | Chr20:35480015 [GRCh38] Chr20:34067840 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4024G>A (p.Glu1342Lys) | single nucleotide variant | not provided [RCV001211356] | Chr20:35502393 [GRCh38] Chr20:34090221 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.539T>C (p.Leu180Pro) | single nucleotide variant | not provided [RCV001349298] | Chr20:35467012 [GRCh38] Chr20:34054837 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2432T>C (p.Leu811Pro) | single nucleotide variant | not provided [RCV002001537] | Chr20:35479991 [GRCh38] Chr20:34067816 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5836C>T (p.Arg1946Trp) | single nucleotide variant | not provided [RCV002001942] | Chr20:35504205 [GRCh38] Chr20:34092033 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.656G>C (p.Cys219Ser) | single nucleotide variant | not provided [RCV001349235] | Chr20:35467360 [GRCh38] Chr20:34055185 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5339T>C (p.Ile1780Thr) | single nucleotide variant | not provided [RCV001304906] | Chr20:35503708 [GRCh38] Chr20:34091536 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.283A>G (p.Asn95Asp) | single nucleotide variant | not provided [RCV001297291] | Chr20:35465782 [GRCh38] Chr20:34053607 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4889A>G (p.Gln1630Arg) | single nucleotide variant | not provided [RCV001305297] | Chr20:35503258 [GRCh38] Chr20:34091086 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2758C>G (p.Gln920Glu) | single nucleotide variant | Inborn genetic diseases [RCV002546916]|not provided [RCV001340885] | Chr20:35491215 [GRCh38] Chr20:34079041 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5606G>A (p.Arg1869Gln) | single nucleotide variant | not provided [RCV001298471] | Chr20:35503975 [GRCh38] Chr20:34091803 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1906G>A (p.Ala636Thr) | single nucleotide variant | not provided [RCV001341750] | Chr20:35477913 [GRCh38] Chr20:34065738 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1085G>C (p.Gly362Ala) | single nucleotide variant | not provided [RCV001305406] | Chr20:35472707 [GRCh38] Chr20:34060532 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5963C>T (p.Ala1988Val) | single nucleotide variant | not provided [RCV001297964] | Chr20:35504332 [GRCh38] Chr20:34092160 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.412G>A (p.Val138Met) | single nucleotide variant | not provided [RCV001301410] | Chr20:35466124 [GRCh38] Chr20:34053949 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2197G>A (p.Ala733Thr) | single nucleotide variant | not provided [RCV001307177] | Chr20:35479333 [GRCh38] Chr20:34067158 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6532C>G (p.Leu2178Val) | single nucleotide variant | not provided [RCV001339769] | Chr20:35504901 [GRCh38] Chr20:34092729 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5660A>G (p.Glu1887Gly) | single nucleotide variant | not provided [RCV001320466] | Chr20:35504029 [GRCh38] Chr20:34091857 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5027G>A (p.Arg1676Gln) | single nucleotide variant | not provided [RCV001314281] | Chr20:35503396 [GRCh38] Chr20:34091224 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2156G>A (p.Arg719Gln) | single nucleotide variant | not provided [RCV001342517] | Chr20:35479292 [GRCh38] Chr20:34067117 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6560T>A (p.Val2187Asp) | single nucleotide variant | not provided [RCV001341680] | Chr20:35504929 [GRCh38] Chr20:34092757 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5920C>T (p.His1974Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003294271]|not provided [RCV001316527] | Chr20:35504289 [GRCh38] Chr20:34092117 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5878C>T (p.Arg1960Trp) | single nucleotide variant | not provided [RCV001314501] | Chr20:35504247 [GRCh38] Chr20:34092075 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5089C>T (p.Arg1697Trp) | single nucleotide variant | not provided [RCV001320707] | Chr20:35503458 [GRCh38] Chr20:34091286 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6435G>T (p.Glu2145Asp) | single nucleotide variant | not provided [RCV001320793] | Chr20:35504804 [GRCh38] Chr20:34092632 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3260A>G (p.Gln1087Arg) | single nucleotide variant | Inborn genetic diseases [RCV003246863]|not provided [RCV001308403] | Chr20:35496669 [GRCh38] Chr20:34084498 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6878A>G (p.Asn2293Ser) | single nucleotide variant | not provided [RCV001338916] | Chr20:35508162 [GRCh38] Chr20:34095991 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6400A>G (p.Met2134Val) | single nucleotide variant | not provided [RCV001301606] | Chr20:35504769 [GRCh38] Chr20:34092597 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.566G>A (p.Arg189His) | single nucleotide variant | not provided [RCV001298275] | Chr20:35467039 [GRCh38] Chr20:34054864 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.990TAG[1] (p.Ser331del) | microsatellite | not provided [RCV001304249] | Chr20:35472091..35472093 [GRCh38] Chr20:34059916..34059918 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1659C>G (p.His553Gln) | single nucleotide variant | not provided [RCV001294593] | Chr20:35475589 [GRCh38] Chr20:34063414 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3575C>A (p.Ala1192Asp) | single nucleotide variant | not provided [RCV001295423] | Chr20:35497987 [GRCh38] Chr20:34085816 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6169C>T (p.Arg2057Trp) | single nucleotide variant | Inborn genetic diseases [RCV003166768]|not provided [RCV001309399] | Chr20:35504538 [GRCh38] Chr20:34092366 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2263C>T (p.Leu755Phe) | single nucleotide variant | not provided [RCV001341157] | Chr20:35479399 [GRCh38] Chr20:34067224 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4841T>C (p.Leu1614Pro) | single nucleotide variant | not provided [RCV001319201] | Chr20:35503210 [GRCh38] Chr20:34091038 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3547G>A (p.Ala1183Thr) | single nucleotide variant | not provided [RCV001305181] | Chr20:35497959 [GRCh38] Chr20:34085788 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6130C>T (p.Leu2044Phe) | single nucleotide variant | not provided [RCV001300188] | Chr20:35504499 [GRCh38] Chr20:34092327 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1743G>A (p.Ser581=) | single nucleotide variant | not provided [RCV001397344] | Chr20:35476475 [GRCh38] Chr20:34064300 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3501C>T (p.Ala1167=) | single nucleotide variant | not provided [RCV001392806] | Chr20:35497913 [GRCh38] Chr20:34085742 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5507T>C (p.Val1836Ala) | single nucleotide variant | not provided [RCV001362321] | Chr20:35503876 [GRCh38] Chr20:34091704 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5256A>G (p.Lys1752=) | single nucleotide variant | not provided [RCV001423220] | Chr20:35503625 [GRCh38] Chr20:34091453 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4460C>G (p.Ser1487Cys) | single nucleotide variant | not provided [RCV001361364] | Chr20:35502829 [GRCh38] Chr20:34090657 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3264C>T (p.Asp1088=) | single nucleotide variant | not provided [RCV001433866] | Chr20:35496673 [GRCh38] Chr20:34084502 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4850A>T (p.His1617Leu) | single nucleotide variant | not provided [RCV001314190] | Chr20:35503219 [GRCh38] Chr20:34091047 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6146A>G (p.Glu2049Gly) | single nucleotide variant | not provided [RCV001307109] | Chr20:35504515 [GRCh38] Chr20:34092343 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5195G>A (p.Arg1732His) | single nucleotide variant | not provided [RCV001372657] | Chr20:35503564 [GRCh38] Chr20:34091392 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3965T>C (p.Met1322Thr) | single nucleotide variant | not provided [RCV001368066] | Chr20:35501911 [GRCh38] Chr20:34089738 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.439C>T (p.Arg147Trp) | single nucleotide variant | not provided [RCV001374274] | Chr20:35466151 [GRCh38] Chr20:34053976 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4895T>C (p.Val1632Ala) | single nucleotide variant | not provided [RCV001325271] | Chr20:35503264 [GRCh38] Chr20:34091092 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5744A>G (p.Gln1915Arg) | single nucleotide variant | not provided [RCV001338480] | Chr20:35504113 [GRCh38] Chr20:34091941 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4192G>A (p.Glu1398Lys) | single nucleotide variant | not provided [RCV001316525] | Chr20:35502561 [GRCh38] Chr20:34090389 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3594G>A (p.Glu1198=) | single nucleotide variant | not provided [RCV001413337] | Chr20:35498006 [GRCh38] Chr20:34085835 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter) | single nucleotide variant | CEP250-related condition [RCV003399201]|not provided [RCV001382463] | Chr20:35494581 [GRCh38] Chr20:34082408 [GRCh37] Chr20:20q11.22 |
pathogenic|likely pathogenic |
NM_007186.6(CEP250):c.6451_6462del (p.Glu2151_Arg2154del) | deletion | not provided [RCV001368297] | Chr20:35504815..35504826 [GRCh38] Chr20:34092643..34092654 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2555A>G (p.Glu852Gly) | single nucleotide variant | not provided [RCV001359367] | Chr20:35480114 [GRCh38] Chr20:34067939 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6294G>A (p.Glu2098=) | single nucleotide variant | not provided [RCV001415159] | Chr20:35504663 [GRCh38] Chr20:34092491 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6437C>G (p.Pro2146Arg) | single nucleotide variant | not provided [RCV001314852] | Chr20:35504806 [GRCh38] Chr20:34092634 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4259A>T (p.Gln1420Leu) | single nucleotide variant | not provided [RCV001351285] | Chr20:35502628 [GRCh38] Chr20:34090456 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4633G>A (p.Val1545Ile) | single nucleotide variant | not provided [RCV001314983] | Chr20:35503002 [GRCh38] Chr20:34090830 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2531T>C (p.Leu844Ser) | single nucleotide variant | not provided [RCV001304374] | Chr20:35480090 [GRCh38] Chr20:34067915 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.851+6A>G | single nucleotide variant | not provided [RCV001362656] | Chr20:35467561 [GRCh38] Chr20:34055386 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2685G>A (p.Gln895=) | single nucleotide variant | not provided [RCV001422704] | Chr20:35490735 [GRCh38] Chr20:34078561 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3321G>A (p.Arg1107=) | single nucleotide variant | not provided [RCV001423182] | Chr20:35497733 [GRCh38] Chr20:34085562 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.982G>A (p.Ala328Thr) | single nucleotide variant | not provided [RCV001326270] | Chr20:35472083 [GRCh38] Chr20:34059908 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6766G>A (p.Ala2256Thr) | single nucleotide variant | not provided [RCV001322746] | Chr20:35508050 [GRCh38] Chr20:34095879 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.49C>A (p.Gln17Lys) | single nucleotide variant | not provided [RCV001312313] | Chr20:35462416 [GRCh38] Chr20:34050241 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.868G>T (p.Ala290Ser) | single nucleotide variant | not provided [RCV001299032] | Chr20:35469906 [GRCh38] Chr20:34057731 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1675C>A (p.Leu559Met) | single nucleotide variant | not provided [RCV001343519] | Chr20:35475605 [GRCh38] Chr20:34063430 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.446G>A (p.Arg149Gln) | single nucleotide variant | not provided [RCV001346530] | Chr20:35466158 [GRCh38] Chr20:34053983 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.863T>C (p.Leu288Pro) | single nucleotide variant | not provided [RCV001360242] | Chr20:35469901 [GRCh38] Chr20:34057726 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2018A>G (p.Glu673Gly) | single nucleotide variant | not provided [RCV001312685] | Chr20:35478025 [GRCh38] Chr20:34065850 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7124C>A (p.Thr2375Asn) | single nucleotide variant | not provided [RCV001300089] | Chr20:35511421 [GRCh38] Chr20:34099250 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2540A>G (p.Gln847Arg) | single nucleotide variant | not provided [RCV001369832] | Chr20:35480099 [GRCh38] Chr20:34067924 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6290G>A (p.Arg2097Lys) | single nucleotide variant | not provided [RCV001297162] | Chr20:35504659 [GRCh38] Chr20:34092487 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6889C>T (p.Arg2297Trp) | single nucleotide variant | not provided [RCV001342265] | Chr20:35508173 [GRCh38] Chr20:34096002 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7235G>A (p.Arg2412His) | single nucleotide variant | not provided [RCV001315831] | Chr20:35511532 [GRCh38] Chr20:34099361 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6542C>G (p.Ala2181Gly) | single nucleotide variant | not provided [RCV001320351] | Chr20:35504911 [GRCh38] Chr20:34092739 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6461G>A (p.Arg2154Gln) | single nucleotide variant | not provided [RCV001344949] | Chr20:35504830 [GRCh38] Chr20:34092658 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7318G>A (p.Ala2440Thr) | single nucleotide variant | not provided [RCV001371904] | Chr20:35511615 [GRCh38] Chr20:34099444 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6307C>G (p.Leu2103Val) | single nucleotide variant | not provided [RCV001365264] | Chr20:35504676 [GRCh38] Chr20:34092504 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.327G>A (p.Arg109=) | single nucleotide variant | not provided [RCV001298137] | Chr20:35466039 [GRCh38] Chr20:34053864 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6877A>C (p.Asn2293His) | single nucleotide variant | not provided [RCV001300337] | Chr20:35508161 [GRCh38] Chr20:34095990 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5126G>A (p.Arg1709Gln) | single nucleotide variant | not provided [RCV001344997] | Chr20:35503495 [GRCh38] Chr20:34091323 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6170G>A (p.Arg2057Gln) | single nucleotide variant | not provided [RCV001323149] | Chr20:35504539 [GRCh38] Chr20:34092367 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.796G>A (p.Glu266Lys) | single nucleotide variant | not provided [RCV001347038] | Chr20:35467500 [GRCh38] Chr20:34055325 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3899-6T>G | single nucleotide variant | not provided [RCV001373968] | Chr20:35501839 [GRCh38] Chr20:34089666 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_007186.6(CEP250):c.4069G>A (p.Val1357Met) | single nucleotide variant | Inborn genetic diseases [RCV002547073]|not provided [RCV001347286] | Chr20:35502438 [GRCh38] Chr20:34090266 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6556A>C (p.Ser2186Arg) | single nucleotide variant | not provided [RCV001342688] | Chr20:35504925 [GRCh38] Chr20:34092753 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1783C>T (p.Arg595Trp) | single nucleotide variant | not provided [RCV001361620] | Chr20:35476515 [GRCh38] Chr20:34064340 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.242G>C (p.Gly81Ala) | single nucleotide variant | not provided [RCV001300696] | Chr20:35463630 [GRCh38] Chr20:34051455 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.563G>A (p.Arg188Gln) | single nucleotide variant | not provided [RCV001322355] | Chr20:35467036 [GRCh38] Chr20:34054861 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1502A>T (p.Asp501Val) | single nucleotide variant | not provided [RCV001351395] | Chr20:35473983 [GRCh38] Chr20:34061808 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6409C>G (p.Gln2137Glu) | single nucleotide variant | not provided [RCV001341346] | Chr20:35504778 [GRCh38] Chr20:34092606 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1637G>A (p.Arg546Gln) | single nucleotide variant | Inborn genetic diseases [RCV003263955]|not provided [RCV001322406] | Chr20:35475567 [GRCh38] Chr20:34063392 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1691C>T (p.Thr564Met) | single nucleotide variant | not provided [RCV001372865] | Chr20:35475621 [GRCh38] Chr20:34063446 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3448G>A (p.Ala1150Thr) | single nucleotide variant | not provided [RCV001372924] | Chr20:35497860 [GRCh38] Chr20:34085689 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7219del (p.Leu2407fs) | deletion | not provided [RCV001963934] | Chr20:35511515 [GRCh38] Chr20:34099344 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3401C>T (p.Thr1134Met) | single nucleotide variant | not provided [RCV001318042] | Chr20:35497813 [GRCh38] Chr20:34085642 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7065G>A (p.Glu2355=) | single nucleotide variant | not provided [RCV001300869] | Chr20:35510054 [GRCh38] Chr20:34097883 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1933G>A (p.Val645Ile) | single nucleotide variant | not provided [RCV001362027] | Chr20:35477940 [GRCh38] Chr20:34065765 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1389G>A (p.Lys463=) | single nucleotide variant | not provided [RCV001373029] | Chr20:35473870 [GRCh38] Chr20:34061695 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2576G>A (p.Arg859Gln) | single nucleotide variant | not provided [RCV001295519] | Chr20:35480135 [GRCh38] Chr20:34067960 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1412C>G (p.Ala471Gly) | single nucleotide variant | Inborn genetic diseases [RCV002547033]|not provided [RCV001345469] | Chr20:35473893 [GRCh38] Chr20:34061718 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2266G>A (p.Ala756Thr) | single nucleotide variant | not provided [RCV001313662] | Chr20:35479402 [GRCh38] Chr20:34067227 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5554A>G (p.Met1852Val) | single nucleotide variant | Inborn genetic diseases [RCV002547791]|not provided [RCV001362210] | Chr20:35503923 [GRCh38] Chr20:34091751 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_007186.6(CEP250):c.1716+3G>A | single nucleotide variant | not provided [RCV001325081] | Chr20:35475649 [GRCh38] Chr20:34063474 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3753C>G (p.Asp1251Glu) | single nucleotide variant | not provided [RCV001295646] | Chr20:35498692 [GRCh38] Chr20:34086521 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5975G>A (p.Arg1992His) | single nucleotide variant | Inborn genetic diseases [RCV002548468]|not provided [RCV001350158] | Chr20:35504344 [GRCh38] Chr20:34092172 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1571T>C (p.Leu524Pro) | single nucleotide variant | not provided [RCV001350184] | Chr20:35474052 [GRCh38] Chr20:34061877 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1980G>T (p.Lys660Asn) | single nucleotide variant | not provided [RCV001368364] | Chr20:35477987 [GRCh38] Chr20:34065812 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3983G>A (p.Arg1328His) | single nucleotide variant | not provided [RCV001308390] | Chr20:35501929 [GRCh38] Chr20:34089756 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1716+5G>A | single nucleotide variant | not provided [RCV001317500] | Chr20:35475651 [GRCh38] Chr20:34063476 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5152A>G (p.Lys1718Glu) | single nucleotide variant | not provided [RCV001317502] | Chr20:35503521 [GRCh38] Chr20:34091349 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6745G>A (p.Gly2249Arg) | single nucleotide variant | not provided [RCV001318290] | Chr20:35507846 [GRCh38] Chr20:34095675 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5279A>T (p.Gln1760Leu) | single nucleotide variant | Inborn genetic diseases [RCV003169664]|not provided [RCV001344578] | Chr20:35503648 [GRCh38] Chr20:34091476 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7084C>T (p.Gln2362Ter) | single nucleotide variant | not provided [RCV001323754] | Chr20:35511381 [GRCh38] Chr20:34099210 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1351A>G (p.Thr451Ala) | single nucleotide variant | not provided [RCV001346275] | Chr20:35473515 [GRCh38] Chr20:34061340 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2254C>T (p.Arg752Trp) | single nucleotide variant | not provided [RCV001305326] | Chr20:35479390 [GRCh38] Chr20:34067215 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1243G>A (p.Ala415Thr) | single nucleotide variant | not provided [RCV001352358] | Chr20:35473407 [GRCh38] Chr20:34061232 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6084C>G (p.Asp2028Glu) | single nucleotide variant | not provided [RCV001370916] | Chr20:35504453 [GRCh38] Chr20:34092281 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2193G>C (p.Lys731Asn) | single nucleotide variant | not provided [RCV001326383] | Chr20:35479329 [GRCh38] Chr20:34067154 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3815G>A (p.Arg1272His) | single nucleotide variant | Inborn genetic diseases [RCV002547740]|not provided [RCV001360208] | Chr20:35500086 [GRCh38] Chr20:34087915 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1584G>T (p.Leu528=) | single nucleotide variant | not provided [RCV001394676] | Chr20:35475514 [GRCh38] Chr20:34063339 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1469G>A (p.Arg490Gln) | single nucleotide variant | not provided [RCV001314340] | Chr20:35473950 [GRCh38] Chr20:34061775 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5812C>T (p.Arg1938Trp) | single nucleotide variant | Inborn genetic diseases [RCV002543677]|not provided [RCV001315679] | Chr20:35504181 [GRCh38] Chr20:34092009 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7234C>A (p.Arg2412Ser) | single nucleotide variant | not provided [RCV001366815] | Chr20:35511531 [GRCh38] Chr20:34099360 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2231G>A (p.Arg744Gln) | single nucleotide variant | not provided [RCV001366898] | Chr20:35479367 [GRCh38] Chr20:34067192 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5770C>A (p.Leu1924Met) | single nucleotide variant | not provided [RCV001296405] | Chr20:35504139 [GRCh38] Chr20:34091967 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3855A>G (p.Thr1285=) | single nucleotide variant | not provided [RCV001395517] | Chr20:35500126 [GRCh38] Chr20:34087955 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5734G>A (p.Glu1912Lys) | single nucleotide variant | not provided [RCV001318694] | Chr20:35504103 [GRCh38] Chr20:34091931 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6011C>T (p.Ser2004Phe) | single nucleotide variant | not provided [RCV001297902] | Chr20:35504380 [GRCh38] Chr20:34092208 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2026G>A (p.Ala676Thr) | single nucleotide variant | not provided [RCV001368652] | Chr20:35478033 [GRCh38] Chr20:34065858 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4895T>G (p.Val1632Gly) | single nucleotide variant | not provided [RCV001309856] | Chr20:35503264 [GRCh38] Chr20:34091092 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.823G>T (p.Asp275Tyr) | single nucleotide variant | not provided [RCV001316147] | Chr20:35467527 [GRCh38] Chr20:34055352 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5253C>G (p.Leu1751=) | single nucleotide variant | not provided [RCV001494512] | Chr20:35503622 [GRCh38] Chr20:34091450 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1503C>T (p.Asp501=) | single nucleotide variant | not provided [RCV001396008] | Chr20:35473984 [GRCh38] Chr20:34061809 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7274C>T (p.Pro2425Leu) | single nucleotide variant | not provided [RCV001365613] | Chr20:35511571 [GRCh38] Chr20:34099400 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2255G>A (p.Arg752Gln) | single nucleotide variant | not provided [RCV001365617] | Chr20:35479391 [GRCh38] Chr20:34067216 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4321C>G (p.Arg1441Gly) | single nucleotide variant | not provided [RCV001339532] | Chr20:35502690 [GRCh38] Chr20:34090518 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3814C>T (p.Arg1272Cys) | single nucleotide variant | not provided [RCV001337975] | Chr20:35500085 [GRCh38] Chr20:34087914 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5884C>T (p.Arg1962Trp) | single nucleotide variant | not provided [RCV001308488] | Chr20:35504253 [GRCh38] Chr20:34092081 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2289-7C>A | single nucleotide variant | not provided [RCV001494509] | Chr20:35479639 [GRCh38] Chr20:34067464 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5959C>T (p.Gln1987Ter) | single nucleotide variant | not provided [RCV001384502] | Chr20:35504328 [GRCh38] Chr20:34092156 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.2383C>T (p.Gln795Ter) | single nucleotide variant | not provided [RCV001380110] | Chr20:35479740 [GRCh38] Chr20:34067565 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.666C>T (p.Arg222=) | single nucleotide variant | not provided [RCV001435293] | Chr20:35467370 [GRCh38] Chr20:34055195 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4725G>C (p.Leu1575=) | single nucleotide variant | not provided [RCV001473139] | Chr20:35503094 [GRCh38] Chr20:34090922 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4021-8T>A | single nucleotide variant | not provided [RCV001495009] | Chr20:35502382 [GRCh38] Chr20:34090210 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7314A>G (p.Gln2438=) | single nucleotide variant | not provided [RCV001465011] | Chr20:35511611 [GRCh38] Chr20:34099440 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.244-6G>A | single nucleotide variant | not provided [RCV001490711] | Chr20:35465737 [GRCh38] Chr20:34053562 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4674G>C (p.Leu1558=) | single nucleotide variant | not provided [RCV001451178] | Chr20:35503043 [GRCh38] Chr20:34090871 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3402G>A (p.Thr1134=) | single nucleotide variant | not provided [RCV001520229] | Chr20:35497814 [GRCh38] Chr20:34085643 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.522C>T (p.His174=) | single nucleotide variant | not provided [RCV001468500] | Chr20:35466995 [GRCh38] Chr20:34054820 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1923T>C (p.Asn641=) | single nucleotide variant | not provided [RCV001482066] | Chr20:35477930 [GRCh38] Chr20:34065755 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5187G>C (p.Leu1729=) | single nucleotide variant | not provided [RCV001490804] | Chr20:35503556 [GRCh38] Chr20:34091384 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.411T>C (p.Asp137=) | single nucleotide variant | not provided [RCV001492470] | Chr20:35466123 [GRCh38] Chr20:34053948 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5879G>A (p.Arg1960Gln) | single nucleotide variant | not provided [RCV001510830] | Chr20:35504248 [GRCh38] Chr20:34092076 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3967G>A (p.Ala1323Thr) | single nucleotide variant | not provided [RCV001515242]|not specified [RCV001701181] | Chr20:35501913 [GRCh38] Chr20:34089740 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3933A>G (p.Leu1311=) | single nucleotide variant | not provided [RCV001428390] | Chr20:35501879 [GRCh38] Chr20:34089706 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3285A>G (p.Glu1095=) | single nucleotide variant | not provided [RCV001488582] | Chr20:35496694 [GRCh38] Chr20:34084523 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1383C>G (p.Leu461=) | single nucleotide variant | not provided [RCV001496989] | Chr20:35473547 [GRCh38] Chr20:34061372 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1944G>A (p.Ala648=) | single nucleotide variant | not provided [RCV001459562] | Chr20:35477951 [GRCh38] Chr20:34065776 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3132C>T (p.Asn1044=) | single nucleotide variant | not provided [RCV001511505] | Chr20:35494622 [GRCh38] Chr20:34082449 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.7140C>T (p.Thr2380=) | single nucleotide variant | not provided [RCV001403039] | Chr20:35511437 [GRCh38] Chr20:34099266 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7009-15G>T | single nucleotide variant | not provided [RCV001467885] | Chr20:35509983 [GRCh38] Chr20:34097812 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6373T>C (p.Leu2125=) | single nucleotide variant | not provided [RCV001483638] | Chr20:35504742 [GRCh38] Chr20:34092570 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.353C>T (p.Thr118Ile) | single nucleotide variant | not provided [RCV001512007] | Chr20:35466065 [GRCh38] Chr20:34053890 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.4245A>G (p.Gln1415=) | single nucleotide variant | not provided [RCV001475710] | Chr20:35502614 [GRCh38] Chr20:34090442 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3714T>C (p.Ala1238=) | single nucleotide variant | not provided [RCV001452699] | Chr20:35498653 [GRCh38] Chr20:34086482 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3237A>G (p.Gln1079=) | single nucleotide variant | not provided [RCV001512509] | Chr20:35496646 [GRCh38] Chr20:34084475 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2670G>A (p.Arg890=) | single nucleotide variant | not provided [RCV001439711] | Chr20:35490720 [GRCh38] Chr20:34078546 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2499G>A (p.Leu833=) | single nucleotide variant | not provided [RCV001415718] | Chr20:35480058 [GRCh38] Chr20:34067883 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.885T>C (p.Ser295=) | single nucleotide variant | not provided [RCV001474486] | Chr20:35469923 [GRCh38] Chr20:34057748 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2586+20G>A | single nucleotide variant | not provided [RCV001475843] | Chr20:35480165 [GRCh38] Chr20:34067990 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3495G>A (p.Ala1165=) | single nucleotide variant | not provided [RCV001487566] | Chr20:35497907 [GRCh38] Chr20:34085736 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2829T>C (p.Asp943=) | single nucleotide variant | not provided [RCV001398149] | Chr20:35491286 [GRCh38] Chr20:34079112 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1210-4A>G | single nucleotide variant | not provided [RCV001521735] | Chr20:35473370 [GRCh38] Chr20:34061195 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6795G>A (p.Lys2265=) | single nucleotide variant | not provided [RCV001521815] | Chr20:35508079 [GRCh38] Chr20:34095908 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1905C>G (p.Ala635=) | single nucleotide variant | not provided [RCV001489545] | Chr20:35477912 [GRCh38] Chr20:34065737 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6417A>G (p.Leu2139=) | single nucleotide variant | not provided [RCV001493102] | Chr20:35504786 [GRCh38] Chr20:34092614 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3526GCCCAG[4] (p.1176AQ[4]) | microsatellite | not provided [RCV001518219] | Chr20:35497933..35497934 [GRCh38] Chr20:34085762..34085763 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3516C>T (p.Pro1172=) | single nucleotide variant | not provided [RCV001472587] | Chr20:35497928 [GRCh38] Chr20:34085757 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5010C>G (p.Leu1670=) | single nucleotide variant | not provided [RCV001506685] | Chr20:35503379 [GRCh38] Chr20:34091207 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2370G>A (p.Leu790=) | single nucleotide variant | not provided [RCV001402169] | Chr20:35479727 [GRCh38] Chr20:34067552 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2526T>C (p.Thr842=) | single nucleotide variant | not provided [RCV001438613] | Chr20:35480085 [GRCh38] Chr20:34067910 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6637-10C>T | single nucleotide variant | not provided [RCV001419933] | Chr20:35507728 [GRCh38] Chr20:34095557 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5349G>A (p.Leu1783=) | single nucleotide variant | not provided [RCV001448641] | Chr20:35503718 [GRCh38] Chr20:34091546 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5529C>T (p.Leu1843=) | single nucleotide variant | not provided [RCV001430375] | Chr20:35503898 [GRCh38] Chr20:34091726 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3207T>G (p.Leu1069=) | single nucleotide variant | not provided [RCV001441286] | Chr20:35496616 [GRCh38] Chr20:34084445 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4488C>A (p.Val1496=) | single nucleotide variant | not provided [RCV001420062] | Chr20:35502857 [GRCh38] Chr20:34090685 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2388dup (p.Val797fs) | duplication | not provided [RCV001389544] | Chr20:35479744..35479745 [GRCh38] Chr20:34067569..34067570 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.6957G>A (p.Gln2319=) | single nucleotide variant | not provided [RCV001432660] | Chr20:35508993 [GRCh38] Chr20:34096822 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6447G>A (p.Gln2149=) | single nucleotide variant | not provided [RCV001434386] | Chr20:35504816 [GRCh38] Chr20:34092644 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3144G>A (p.Lys1048=) | single nucleotide variant | not provided [RCV001424959] | Chr20:35494634 [GRCh38] Chr20:34082461 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.851G>A (p.Arg284Gln) | single nucleotide variant | not provided [RCV001401051] | Chr20:35467555 [GRCh38] Chr20:34055380 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2775G>T (p.Lys925Asn) | single nucleotide variant | not provided [RCV001444404] | Chr20:35491232 [GRCh38] Chr20:34079058 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6372C>T (p.Ala2124=) | single nucleotide variant | not provided [RCV001446803] | Chr20:35504741 [GRCh38] Chr20:34092569 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3167+15C>T | single nucleotide variant | not provided [RCV001399620] | Chr20:35494672 [GRCh38] Chr20:34082499 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6693T>G (p.Gly2231=) | single nucleotide variant | not provided [RCV001405341] | Chr20:35507794 [GRCh38] Chr20:34095623 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3636C>T (p.Ser1212=) | single nucleotide variant | not provided [RCV001429407] | Chr20:35498048 [GRCh38] Chr20:34085877 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5955C>T (p.Leu1985=) | single nucleotide variant | not provided [RCV001410607] | Chr20:35504324 [GRCh38] Chr20:34092152 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.186+15C>G | single nucleotide variant | not provided [RCV001434405] | Chr20:35462568 [GRCh38] Chr20:34050393 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1388+10C>T | single nucleotide variant | not provided [RCV001406206] | Chr20:35473562 [GRCh38] Chr20:34061387 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6171G>C (p.Arg2057=) | single nucleotide variant | not provided [RCV001447702] | Chr20:35504540 [GRCh38] Chr20:34092368 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1905C>T (p.Ala635=) | single nucleotide variant | not provided [RCV001398407] | Chr20:35477912 [GRCh38] Chr20:34065737 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2217G>A (p.Ala739=) | single nucleotide variant | not provided [RCV001442796] | Chr20:35479353 [GRCh38] Chr20:34067178 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3402G>C (p.Thr1134=) | single nucleotide variant | not provided [RCV001408545] | Chr20:35497814 [GRCh38] Chr20:34085643 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2232G>T (p.Arg744=) | single nucleotide variant | not provided [RCV001442887] | Chr20:35479368 [GRCh38] Chr20:34067193 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2289-15del | deletion | not provided [RCV001442939] | Chr20:35479630 [GRCh38] Chr20:34067455 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6637-9G>A | single nucleotide variant | not provided [RCV001428411] | Chr20:35507729 [GRCh38] Chr20:34095558 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2811G>C (p.Thr937=) | single nucleotide variant | not provided [RCV001445606] | Chr20:35491268 [GRCh38] Chr20:34079094 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1887G>A (p.Val629=) | single nucleotide variant | not provided [RCV001427702] | Chr20:35477894 [GRCh38] Chr20:34065719 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5010C>T (p.Leu1670=) | single nucleotide variant | not provided [RCV001443338] | Chr20:35503379 [GRCh38] Chr20:34091207 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1416G>A (p.Arg472=) | single nucleotide variant | not provided [RCV001409314] | Chr20:35473897 [GRCh38] Chr20:34061722 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1725G>A (p.Gln575=) | single nucleotide variant | not provided [RCV001478875] | Chr20:35476457 [GRCh38] Chr20:34064282 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3604_3605delinsAT (p.Glu1202Met) | indel | not provided [RCV001514959] | Chr20:35498016..35498017 [GRCh38] Chr20:34085845..34085846 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2262C>T (p.Asp754=) | single nucleotide variant | not provided [RCV001493806] | Chr20:35479398 [GRCh38] Chr20:34067223 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7104G>A (p.Lys2368=) | single nucleotide variant | not provided [RCV001481664] | Chr20:35511401 [GRCh38] Chr20:34099230 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2355C>T (p.Val785=) | single nucleotide variant | not provided [RCV001495540] | Chr20:35479712 [GRCh38] Chr20:34067537 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2242G>A (p.Val748Met) | single nucleotide variant | not provided [RCV001506106] | Chr20:35479378 [GRCh38] Chr20:34067203 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3931C>T (p.Leu1311=) | single nucleotide variant | not provided [RCV001495567] | Chr20:35501877 [GRCh38] Chr20:34089704 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.228G>T (p.Arg76=) | single nucleotide variant | not provided [RCV001457558] | Chr20:35463616 [GRCh38] Chr20:34051441 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7065+86C>G | single nucleotide variant | not provided [RCV001679745] | Chr20:35510140 [GRCh38] Chr20:34097969 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.5263C>T (p.Leu1755=) | single nucleotide variant | not provided [RCV001496455] | Chr20:35503632 [GRCh38] Chr20:34091460 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2288+7C>T | single nucleotide variant | not provided [RCV001486434] | Chr20:35479431 [GRCh38] Chr20:34067256 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6522G>A (p.Gln2174=) | single nucleotide variant | not provided [RCV001521056] | Chr20:35504891 [GRCh38] Chr20:34092719 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.4485C>T (p.Ala1495=) | single nucleotide variant | not provided [RCV001511154] | Chr20:35502854 [GRCh38] Chr20:34090682 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3526GCCCAG[2] (p.1176AQ[2]) | microsatellite | not provided [RCV001474156] | Chr20:35497934..35497939 [GRCh38] Chr20:34085763..34085768 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4737G>T (p.Leu1579=) | single nucleotide variant | not provided [RCV001499802] | Chr20:35503106 [GRCh38] Chr20:34090934 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3167+198T>C | single nucleotide variant | not provided [RCV001649563] | Chr20:35494855 [GRCh38] Chr20:34082682 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.936A>G (p.Thr312=) | single nucleotide variant | not provided [RCV001516650]|not specified [RCV001699797] | Chr20:35469974 [GRCh38] Chr20:34057799 [GRCh37] Chr20:20q11.22 |
benign|likely benign |
NM_007186.6(CEP250):c.6865C>T (p.Leu2289=) | single nucleotide variant | not provided [RCV001496505] | Chr20:35508149 [GRCh38] Chr20:34095978 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1971G>A (p.Leu657=) | single nucleotide variant | not provided [RCV001511926] | Chr20:35477978 [GRCh38] Chr20:34065803 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3306+206A>G | single nucleotide variant | not provided [RCV001693420] | Chr20:35496921 [GRCh38] Chr20:34084750 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3945G>T (p.Leu1315=) | single nucleotide variant | not provided [RCV001512284] | Chr20:35501891 [GRCh38] Chr20:34089718 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.493-62T>C | single nucleotide variant | not provided [RCV001709777] | Chr20:35466904 [GRCh38] Chr20:34054729 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6774T>C (p.Pro2258=) | single nucleotide variant | not provided [RCV001500421] | Chr20:35508058 [GRCh38] Chr20:34095887 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6267A>C (p.Ile2089=) | single nucleotide variant | not provided [RCV001503978] | Chr20:35504636 [GRCh38] Chr20:34092464 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5025C>T (p.Thr1675=) | single nucleotide variant | not provided [RCV001463214] | Chr20:35503394 [GRCh38] Chr20:34091222 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3778-140A>G | single nucleotide variant | not provided [RCV001670475] | Chr20:35499909 [GRCh38] Chr20:34087738 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1001C>T (p.Ala334Val) | single nucleotide variant | not provided [RCV001463513] | Chr20:35472102 [GRCh38] Chr20:34059927 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1935C>T (p.Val645=) | single nucleotide variant | not provided [RCV001453376] | Chr20:35477942 [GRCh38] Chr20:34065767 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5798C>A (p.Ala1933Glu) | single nucleotide variant | not provided [RCV001518119] | Chr20:35504167 [GRCh38] Chr20:34091995 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1212C>T (p.Asp404=) | single nucleotide variant | not provided [RCV001453149] | Chr20:35473376 [GRCh38] Chr20:34061201 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.244-5C>T | single nucleotide variant | not provided [RCV001481183] | Chr20:35465738 [GRCh38] Chr20:34053563 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6999C>G (p.Pro2333=) | single nucleotide variant | not provided [RCV001498216] | Chr20:35509035 [GRCh38] Chr20:34096864 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3453A>G (p.Gln1151=) | single nucleotide variant | not provided [RCV001471541] | Chr20:35497865 [GRCh38] Chr20:34085694 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1707G>A (p.Ala569=) | single nucleotide variant | not provided [RCV001498026] | Chr20:35475637 [GRCh38] Chr20:34063462 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2586+19C>T | single nucleotide variant | not provided [RCV001523183] | Chr20:35480164 [GRCh38] Chr20:34067989 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3899-14CT[4] | microsatellite | not provided [RCV001523378] | Chr20:35501830..35501831 [GRCh38] Chr20:34089659..34089660 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.4095A>G (p.Val1365=) | single nucleotide variant | not provided [RCV001481178] | Chr20:35502464 [GRCh38] Chr20:34090292 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6386A>G (p.His2129Arg) | single nucleotide variant | not provided [RCV001523514] | Chr20:35504755 [GRCh38] Chr20:34092583 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.7066-5A>G | single nucleotide variant | not provided [RCV001489514] | Chr20:35511358 [GRCh38] Chr20:34099187 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1758C>T (p.Thr586=) | single nucleotide variant | not provided [RCV001478410] | Chr20:35476490 [GRCh38] Chr20:34064315 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3906= (p.Ser1302=) | variation | not provided [RCV001514516] | Chr20:35501852 [GRCh38] Chr20:34089679 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1701C>T (p.Thr567=) | single nucleotide variant | not provided [RCV001467001] | Chr20:35475631 [GRCh38] Chr20:34063456 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4587A>C (p.Leu1529=) | single nucleotide variant | not provided [RCV001403148] | Chr20:35502956 [GRCh38] Chr20:34090784 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.58C>T (p.Leu20=) | single nucleotide variant | not provided [RCV001458108] | Chr20:35462425 [GRCh38] Chr20:34050250 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7173C>G (p.Leu2391=) | single nucleotide variant | not provided [RCV001464173] | Chr20:35511470 [GRCh38] Chr20:34099299 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.858C>T (p.Thr286=) | single nucleotide variant | not provided [RCV001456931] | Chr20:35469896 [GRCh38] Chr20:34057721 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5161C>T (p.Arg1721Cys) | single nucleotide variant | Inborn genetic diseases [RCV003355488]|not provided [RCV001462601] | Chr20:35503530 [GRCh38] Chr20:34091358 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_007186.6(CEP250):c.4656G>A (p.Leu1552=) | single nucleotide variant | not provided [RCV001484454] | Chr20:35503025 [GRCh38] Chr20:34090853 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6106G>A (p.Asp2036Asn) | single nucleotide variant | not provided [RCV001497979] | Chr20:35504475 [GRCh38] Chr20:34092303 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5570G>A (p.Arg1857His) | single nucleotide variant | not provided [RCV001516581] | Chr20:35503939 [GRCh38] Chr20:34091767 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6157C>T (p.His2053Tyr) | single nucleotide variant | not provided [RCV001516582] | Chr20:35504526 [GRCh38] Chr20:34092354 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3307-20G>A | single nucleotide variant | not provided [RCV001518841] | Chr20:35497699 [GRCh38] Chr20:34085528 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3351T>C (p.Phe1117=) | single nucleotide variant | not provided [RCV001486459] | Chr20:35497763 [GRCh38] Chr20:34085592 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6919C>A (p.Arg2307=) | single nucleotide variant | not provided [RCV001458423] | Chr20:35508955 [GRCh38] Chr20:34096784 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.665G>A (p.Arg222His) | single nucleotide variant | not provided [RCV001514250] | Chr20:35467369 [GRCh38] Chr20:34055194 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.4443G>A (p.Glu1481=) | single nucleotide variant | not provided [RCV001454020] | Chr20:35502812 [GRCh38] Chr20:34090640 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1706C>T (p.Ala569Val) | single nucleotide variant | not provided [RCV001464880] | Chr20:35475636 [GRCh38] Chr20:34063461 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3307-10T>C | single nucleotide variant | not provided [RCV001469427] | Chr20:35497709 [GRCh38] Chr20:34085538 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.936A>C (p.Thr312=) | single nucleotide variant | not provided [RCV001469484] | Chr20:35469974 [GRCh38] Chr20:34057799 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5997A>G (p.Ala1999=) | single nucleotide variant | not provided [RCV001406276] | Chr20:35504366 [GRCh38] Chr20:34092194 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4144A>C (p.Arg1382=) | single nucleotide variant | not provided [RCV001504978] | Chr20:35502513 [GRCh38] Chr20:34090341 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3390G>A (p.Ala1130=) | single nucleotide variant | not provided [RCV001498960] | Chr20:35497802 [GRCh38] Chr20:34085631 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6G>A (p.Glu2=) | single nucleotide variant | not provided [RCV001429460] | Chr20:35462373 [GRCh38] Chr20:34050198 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4092C>A (p.Val1364=) | single nucleotide variant | not provided [RCV001406451] | Chr20:35502461 [GRCh38] Chr20:34090289 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6358A>G (p.Asn2120Asp) | single nucleotide variant | not provided [RCV001519784] | Chr20:35504727 [GRCh38] Chr20:34092555 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2274A>G (p.Gln758=) | single nucleotide variant | not provided [RCV001521276] | Chr20:35479410 [GRCh38] Chr20:34067235 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.3306+8C>G | single nucleotide variant | not provided [RCV001392890] | Chr20:35496723 [GRCh38] Chr20:34084552 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1908A>G (p.Ala636=) | single nucleotide variant | not provided [RCV001401716] | Chr20:35477915 [GRCh38] Chr20:34065740 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4322G>A (p.Arg1441Gln) | single nucleotide variant | not provided [RCV001513231] | Chr20:35502691 [GRCh38] Chr20:34090519 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1716+8G>T | single nucleotide variant | not provided [RCV001451907] | Chr20:35475654 [GRCh38] Chr20:34063479 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3469C>T (p.Arg1157Cys) | single nucleotide variant | not provided [RCV001514527] | Chr20:35497881 [GRCh38] Chr20:34085710 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2391C>G (p.Val797=) | single nucleotide variant | not provided [RCV001436521] | Chr20:35479748 [GRCh38] Chr20:34067573 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1062A>G (p.Glu354=) | single nucleotide variant | not provided [RCV001400169] | Chr20:35472684 [GRCh38] Chr20:34060509 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4092C>T (p.Val1364=) | single nucleotide variant | not provided [RCV001443626] | Chr20:35502461 [GRCh38] Chr20:34090289 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1675C>T (p.Leu559=) | single nucleotide variant | not provided [RCV001415938] | Chr20:35475605 [GRCh38] Chr20:34063430 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2268T>A (p.Ala756=) | single nucleotide variant | not provided [RCV001461879] | Chr20:35479404 [GRCh38] Chr20:34067229 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1708C>T (p.Leu570=) | single nucleotide variant | not provided [RCV001456394] | Chr20:35475638 [GRCh38] Chr20:34063463 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1296C>T (p.Ala432=) | single nucleotide variant | not provided [RCV001393807] | Chr20:35473460 [GRCh38] Chr20:34061285 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6114G>A (p.Gln2038=) | single nucleotide variant | not provided [RCV001512159] | Chr20:35504483 [GRCh38] Chr20:34092311 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1051-12A>T | single nucleotide variant | not provided [RCV001454981] | Chr20:35472661 [GRCh38] Chr20:34060486 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4566C>T (p.Asn1522=) | single nucleotide variant | not provided [RCV001427081] | Chr20:35502935 [GRCh38] Chr20:34090763 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4893G>A (p.Glu1631=) | single nucleotide variant | not provided [RCV001437908] | Chr20:35503262 [GRCh38] Chr20:34091090 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5798C>T (p.Ala1933Val) | single nucleotide variant | not provided [RCV001399277] | Chr20:35504167 [GRCh38] Chr20:34091995 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3424T>C (p.Leu1142=) | single nucleotide variant | not provided [RCV001502755] | Chr20:35497836 [GRCh38] Chr20:34085665 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5569C>T (p.Arg1857Cys) | single nucleotide variant | not provided [RCV003108837] | Chr20:35503938 [GRCh38] Chr20:34091766 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4907G>A (p.Arg1636Gln) | single nucleotide variant | not provided [RCV003104577] | Chr20:35503276 [GRCh38] Chr20:34091104 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1501G>C (p.Asp501His) | single nucleotide variant | not provided [RCV003011616] | Chr20:35473982 [GRCh38] Chr20:34061807 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5606G>T (p.Arg1869Leu) | single nucleotide variant | Inborn genetic diseases [RCV003348621]|not provided [RCV001945006] | Chr20:35503975 [GRCh38] Chr20:34091803 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1189C>T (p.Arg397Trp) | single nucleotide variant | not provided [RCV001914839] | Chr20:35472811 [GRCh38] Chr20:34060636 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4639G>A (p.Asp1547Asn) | single nucleotide variant | not provided [RCV001987805] | Chr20:35503008 [GRCh38] Chr20:34090836 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7027A>G (p.Asn2343Asp) | single nucleotide variant | not provided [RCV002003591] | Chr20:35510016 [GRCh38] Chr20:34097845 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5203_5205del (p.Glu1735del) | deletion | not provided [RCV001968278] | Chr20:35503570..35503572 [GRCh38] Chr20:34091398..34091400 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1331G>A (p.Arg444Gln) | single nucleotide variant | not provided [RCV001914342] | Chr20:35473495 [GRCh38] Chr20:34061320 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3323A>C (p.Gln1108Pro) | single nucleotide variant | not provided [RCV002024995] | Chr20:35497735 [GRCh38] Chr20:34085564 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3610A>G (p.Ser1204Gly) | single nucleotide variant | not provided [RCV002008904] | Chr20:35498022 [GRCh38] Chr20:34085851 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4547A>T (p.Asp1516Val) | single nucleotide variant | Inborn genetic diseases [RCV003264128]|not provided [RCV001874124] | Chr20:35502916 [GRCh38] Chr20:34090744 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7018G>A (p.Gly2340Arg) | single nucleotide variant | not provided [RCV001929588] | Chr20:35510007 [GRCh38] Chr20:34097836 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.200G>A (p.Arg67Gln) | single nucleotide variant | Inborn genetic diseases [RCV003250367]|not provided [RCV001971259] | Chr20:35463588 [GRCh38] Chr20:34051413 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3230T>G (p.Ile1077Ser) | single nucleotide variant | not provided [RCV002008929] | Chr20:35496639 [GRCh38] Chr20:34084468 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4880A>G (p.Glu1627Gly) | single nucleotide variant | not provided [RCV001896800] | Chr20:35503249 [GRCh38] Chr20:34091077 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.280C>A (p.Pro94Thr) | single nucleotide variant | not provided [RCV002045639] | Chr20:35465779 [GRCh38] Chr20:34053604 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.139G>A (p.Glu47Lys) | single nucleotide variant | not provided [RCV001966603] | Chr20:35462506 [GRCh38] Chr20:34050331 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.599+3C>A | single nucleotide variant | not provided [RCV002044170] | Chr20:35467075 [GRCh38] Chr20:34054900 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5542G>C (p.Glu1848Gln) | single nucleotide variant | not provided [RCV001889084] | Chr20:35503911 [GRCh38] Chr20:34091739 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3167+5G>T | single nucleotide variant | not provided [RCV001863596] | Chr20:35494662 [GRCh38] Chr20:34082489 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2039C>T (p.Ala680Val) | single nucleotide variant | not provided [RCV001863832] | Chr20:35478046 [GRCh38] Chr20:34065871 [GRCh37] Chr20:20q11.22 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007186.6(CEP250):c.986C>T (p.Ser329Phe) | single nucleotide variant | not provided [RCV001864338] | Chr20:35472087 [GRCh38] Chr20:34059912 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3671G>A (p.Arg1224Lys) | single nucleotide variant | not provided [RCV002007002] | Chr20:35498610 [GRCh38] Chr20:34086439 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6392C>T (p.Thr2131Ile) | single nucleotide variant | Inborn genetic diseases [RCV003164125]|not provided [RCV001874237] | Chr20:35504761 [GRCh38] Chr20:34092589 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3982C>T (p.Arg1328Cys) | single nucleotide variant | not provided [RCV002025507] | Chr20:35501928 [GRCh38] Chr20:34089755 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6967C>G (p.Leu2323Val) | single nucleotide variant | not provided [RCV002024401] | Chr20:35509003 [GRCh38] Chr20:34096832 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4978C>A (p.Leu1660Met) | single nucleotide variant | not provided [RCV002024535] | Chr20:35503347 [GRCh38] Chr20:34091175 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1394G>T (p.Arg465Leu) | single nucleotide variant | not provided [RCV001863285] | Chr20:35473875 [GRCh38] Chr20:34061700 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4736T>A (p.Leu1579Gln) | single nucleotide variant | not provided [RCV001910876] | Chr20:35503105 [GRCh38] Chr20:34090933 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1120A>T (p.Ser374Cys) | single nucleotide variant | not provided [RCV001948506] | Chr20:35472742 [GRCh38] Chr20:34060567 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2141A>G (p.His714Arg) | single nucleotide variant | not provided [RCV001970504] | Chr20:35479277 [GRCh38] Chr20:34067102 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5813G>A (p.Arg1938Gln) | single nucleotide variant | not provided [RCV001894861] | Chr20:35504182 [GRCh38] Chr20:34092010 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3490G>C (p.Glu1164Gln) | single nucleotide variant | not provided [RCV002044680] | Chr20:35497902 [GRCh38] Chr20:34085731 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3464G>A (p.Arg1155Gln) | single nucleotide variant | not provided [RCV002045779] | Chr20:35497876 [GRCh38] Chr20:34085705 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6038G>A (p.Arg2013Gln) | single nucleotide variant | not provided [RCV001965867] | Chr20:35504407 [GRCh38] Chr20:34092235 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6285T>G (p.Ser2095Arg) | single nucleotide variant | not provided [RCV001983266] | Chr20:35504654 [GRCh38] Chr20:34092482 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4816G>A (p.Ala1606Thr) | single nucleotide variant | not provided [RCV002022374] | Chr20:35503185 [GRCh38] Chr20:34091013 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1946A>G (p.Glu649Gly) | single nucleotide variant | not provided [RCV001891194] | Chr20:35477953 [GRCh38] Chr20:34065778 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1610A>G (p.Glu537Gly) | single nucleotide variant | Inborn genetic diseases [RCV003164236]|not provided [RCV001871097] | Chr20:35475540 [GRCh38] Chr20:34063365 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1784G>A (p.Arg595Gln) | single nucleotide variant | not provided [RCV001945393] | Chr20:35476516 [GRCh38] Chr20:34064341 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6542C>T (p.Ala2181Val) | single nucleotide variant | not provided [RCV001983554] | Chr20:35504911 [GRCh38] Chr20:34092739 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5882C>G (p.Ala1961Gly) | single nucleotide variant | not provided [RCV001892725] | Chr20:35504251 [GRCh38] Chr20:34092079 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.948+6T>G | single nucleotide variant | not provided [RCV001985062] | Chr20:35469992 [GRCh38] Chr20:34057817 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3167+2T>C | single nucleotide variant | not provided [RCV002021988] | Chr20:35494659 [GRCh38] Chr20:34082486 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_007186.6(CEP250):c.2094+1G>A | single nucleotide variant | not provided [RCV001966353] | Chr20:35478102 [GRCh38] Chr20:34065927 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_007186.6(CEP250):c.3349T>A (p.Phe1117Ile) | single nucleotide variant | not provided [RCV001983712] | Chr20:35497761 [GRCh38] Chr20:34085590 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3011A>T (p.Asp1004Val) | single nucleotide variant | not provided [RCV002040580] | Chr20:35493550 [GRCh38] Chr20:34081377 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2348T>C (p.Ile783Thr) | single nucleotide variant | not provided [RCV002004456] | Chr20:35479705 [GRCh38] Chr20:34067530 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1243G>T (p.Ala415Ser) | single nucleotide variant | not provided [RCV001968353] | Chr20:35473407 [GRCh38] Chr20:34061232 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6703A>C (p.Thr2235Pro) | single nucleotide variant | not provided [RCV001965078] | Chr20:35507804 [GRCh38] Chr20:34095633 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7318_*87del (p.Ala2440_Ter2443del) | deletion | not provided [RCV002004559] | Chr20:35511610..35511708 [GRCh38] Chr20:34099439..34099537 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4685T>C (p.Leu1562Pro) | single nucleotide variant | not provided [RCV001911249] | Chr20:35503054 [GRCh38] Chr20:34090882 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7102AAGCAG[3] (p.2368KQ[3]) | microsatellite | not provided [RCV002003413] | Chr20:35511397..35511398 [GRCh38] Chr20:34099226..34099227 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6398C>T (p.Pro2133Leu) | single nucleotide variant | not provided [RCV001927122] | Chr20:35504767 [GRCh38] Chr20:34092595 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5725C>T (p.Gln1909Ter) | single nucleotide variant | not provided [RCV001872443] | Chr20:35504094 [GRCh38] Chr20:34091922 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.6160C>T (p.Gln2054Ter) | single nucleotide variant | not provided [RCV001909509] | Chr20:35504529 [GRCh38] Chr20:34092357 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.3530A>C (p.Gln1177Pro) | single nucleotide variant | Inborn genetic diseases [RCV002553460]|not provided [RCV001892652] | Chr20:35497942 [GRCh38] Chr20:34085771 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1106T>C (p.Leu369Ser) | single nucleotide variant | not provided [RCV001986506] | Chr20:35472728 [GRCh38] Chr20:34060553 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6613G>A (p.Asp2205Asn) | single nucleotide variant | not provided [RCV002007798] | Chr20:35504982 [GRCh38] Chr20:34092810 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3474C>A (p.Ser1158Arg) | single nucleotide variant | Inborn genetic diseases [RCV003348631]|not provided [RCV001913929] | Chr20:35497886 [GRCh38] Chr20:34085715 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2848C>T (p.Arg950Ter) | single nucleotide variant | not provided [RCV001949460] | Chr20:35491305 [GRCh38] Chr20:34079131 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.1256T>G (p.Leu419Trp) | single nucleotide variant | Inborn genetic diseases [RCV002548888]|not provided [RCV002021455] | Chr20:35473420 [GRCh38] Chr20:34061245 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5642G>A (p.Arg1881Gln) | single nucleotide variant | not provided [RCV002042939] | Chr20:35504011 [GRCh38] Chr20:34091839 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5639G>A (p.Arg1880Gln) | single nucleotide variant | not provided [RCV001894004] | Chr20:35504008 [GRCh38] Chr20:34091836 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2209G>A (p.Glu737Lys) | single nucleotide variant | not provided [RCV002020445] | Chr20:35479345 [GRCh38] Chr20:34067170 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.545G>A (p.Arg182Gln) | single nucleotide variant | not provided [RCV002043657] | Chr20:35467018 [GRCh38] Chr20:34054843 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.244-9C>A | single nucleotide variant | not provided [RCV002024438] | Chr20:35465734 [GRCh38] Chr20:34053559 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_007186.6(CEP250):c.4969G>A (p.Asp1657Asn) | single nucleotide variant | not provided [RCV002004292] | Chr20:35503338 [GRCh38] Chr20:34091166 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6761T>C (p.Val2254Ala) | single nucleotide variant | not provided [RCV002005107] | Chr20:35508045 [GRCh38] Chr20:34095874 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3539C>T (p.Ala1180Val) | single nucleotide variant | not provided [RCV001889959] | Chr20:35497951 [GRCh38] Chr20:34085780 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1943C>T (p.Ala648Val) | single nucleotide variant | not provided [RCV002021151] | Chr20:35477950 [GRCh38] Chr20:34065775 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1514G>A (p.Gly505Asp) | single nucleotide variant | not provided [RCV002004740] | Chr20:35473995 [GRCh38] Chr20:34061820 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7043G>A (p.Cys2348Tyr) | single nucleotide variant | not provided [RCV001984114] | Chr20:35510032 [GRCh38] Chr20:34097861 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6920G>A (p.Arg2307Gln) | single nucleotide variant | not provided [RCV001873117] | Chr20:35508956 [GRCh38] Chr20:34096785 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5926G>T (p.Ala1976Ser) | single nucleotide variant | Inborn genetic diseases [RCV002553583]|not provided [RCV001910840] | Chr20:35504295 [GRCh38] Chr20:34092123 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3073T>A (p.Ser1025Thr) | single nucleotide variant | not provided [RCV001913575] | Chr20:35494563 [GRCh38] Chr20:34082390 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.99G>T (p.Glu33Asp) | single nucleotide variant | not provided [RCV002003478] | Chr20:35462466 [GRCh38] Chr20:34050291 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3008A>T (p.Gln1003Leu) | single nucleotide variant | not provided [RCV001984318] | Chr20:35493547 [GRCh38] Chr20:34081374 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7192G>A (p.Val2398Met) | single nucleotide variant | not provided [RCV002021528] | Chr20:35511489 [GRCh38] Chr20:34099318 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4106C>T (p.Ala1369Val) | single nucleotide variant | Inborn genetic diseases [RCV003365515]|not provided [RCV001927333] | Chr20:35502475 [GRCh38] Chr20:34090303 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5500del (p.Glu1834fs) | deletion | not provided [RCV001927575] | Chr20:35503868 [GRCh38] Chr20:34091696 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.6472G>T (p.Ala2158Ser) | single nucleotide variant | not provided [RCV001986840] | Chr20:35504841 [GRCh38] Chr20:34092669 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2476C>T (p.Arg826Trp) | single nucleotide variant | not provided [RCV002041870] | Chr20:35480035 [GRCh38] Chr20:34067860 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2519G>C (p.Gly840Ala) | single nucleotide variant | not provided [RCV002043560] | Chr20:35480078 [GRCh38] Chr20:34067903 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.970A>G (p.Met324Val) | single nucleotide variant | not provided [RCV002023628] | Chr20:35472071 [GRCh38] Chr20:34059896 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4196G>C (p.Arg1399Pro) | single nucleotide variant | not provided [RCV002021566] | Chr20:35502565 [GRCh38] Chr20:34090393 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1330C>T (p.Arg444Trp) | single nucleotide variant | not provided [RCV001911268] | Chr20:35473494 [GRCh38] Chr20:34061319 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4056C>A (p.Asn1352Lys) | single nucleotide variant | not provided [RCV001908442] | Chr20:35502425 [GRCh38] Chr20:34090253 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1825G>A (p.Ala609Thr) | single nucleotide variant | not provided [RCV001983113] | Chr20:35476557 [GRCh38] Chr20:34064382 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.461G>A (p.Arg154Lys) | single nucleotide variant | not provided [RCV001913448] | Chr20:35466173 [GRCh38] Chr20:34053998 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2578G>C (p.Glu860Gln) | single nucleotide variant | not provided [RCV001889968] | Chr20:35480137 [GRCh38] Chr20:34067962 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1852C>A (p.Gln618Lys) | single nucleotide variant | not provided [RCV001984667] | Chr20:35476584 [GRCh38] Chr20:34064409 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1742C>T (p.Ser581Leu) | single nucleotide variant | not provided [RCV002020359] | Chr20:35476474 [GRCh38] Chr20:34064299 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3713C>T (p.Ala1238Val) | single nucleotide variant | not provided [RCV001967051] | Chr20:35498652 [GRCh38] Chr20:34086481 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5921A>T (p.His1974Leu) | single nucleotide variant | not provided [RCV002021634] | Chr20:35504290 [GRCh38] Chr20:34092118 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5419G>A (p.Glu1807Lys) | single nucleotide variant | not provided [RCV001983551] | Chr20:35503788 [GRCh38] Chr20:34091616 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2755-15C>G | single nucleotide variant | not provided [RCV002084532] | Chr20:35491197 [GRCh38] Chr20:34079023 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2311A>G (p.Ser771Gly) | single nucleotide variant | not provided [RCV001890543] | Chr20:35479668 [GRCh38] Chr20:34067493 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.830A>G (p.Glu277Gly) | single nucleotide variant | not provided [RCV002038474] | Chr20:35467534 [GRCh38] Chr20:34055359 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.872T>C (p.Leu291Pro) | single nucleotide variant | not provided [RCV001976612] | Chr20:35469910 [GRCh38] Chr20:34057735 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4918G>A (p.Glu1640Lys) | single nucleotide variant | not provided [RCV001922055] | Chr20:35503287 [GRCh38] Chr20:34091115 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3369G>C (p.Gln1123His) | single nucleotide variant | not provided [RCV001905093] | Chr20:35497781 [GRCh38] Chr20:34085610 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2010del (p.Ala671fs) | deletion | not provided [RCV001999760] | Chr20:35478015 [GRCh38] Chr20:34065840 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.7127G>A (p.Arg2376His) | single nucleotide variant | Inborn genetic diseases [RCV002561418]|not provided [RCV001941218] | Chr20:35511424 [GRCh38] Chr20:34099253 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6919C>T (p.Arg2307Trp) | single nucleotide variant | not provided [RCV002014408] | Chr20:35508955 [GRCh38] Chr20:34096784 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3644G>C (p.Gly1215Ala) | single nucleotide variant | not provided [RCV001998702] | Chr20:35498056 [GRCh38] Chr20:34085885 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2726G>A (p.Arg909Gln) | single nucleotide variant | not provided [RCV002035055] | Chr20:35490776 [GRCh38] Chr20:34078602 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4093G>A (p.Val1365Ile) | single nucleotide variant | not provided [RCV001882051] | Chr20:35502462 [GRCh38] Chr20:34090290 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.94dup (p.Ala32fs) | duplication | not provided [RCV001888148] | Chr20:35462459..35462460 [GRCh38] Chr20:34050284..34050285 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.3935A>C (p.Glu1312Ala) | single nucleotide variant | not provided [RCV001995573] | Chr20:35501881 [GRCh38] Chr20:34089708 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7310C>T (p.Thr2437Ile) | single nucleotide variant | not provided [RCV002038608] | Chr20:35511607 [GRCh38] Chr20:34099436 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7064A>C (p.Glu2355Ala) | single nucleotide variant | not provided [RCV001997906] | Chr20:35510053 [GRCh38] Chr20:34097882 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NC_000020.10:g.(?_34060478)_(34060676_?)del | deletion | not provided [RCV001941112] | Chr20:34060478..34060676 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4151C>T (p.Ala1384Val) | single nucleotide variant | not provided [RCV002038566] | Chr20:35502520 [GRCh38] Chr20:34090348 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4993G>A (p.Glu1665Lys) | single nucleotide variant | not provided [RCV001981043] | Chr20:35503362 [GRCh38] Chr20:34091190 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4858G>T (p.Val1620Phe) | single nucleotide variant | not provided [RCV001997523] | Chr20:35503227 [GRCh38] Chr20:34091055 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7182_7185del (p.Leu2396fs) | deletion | not provided [RCV001924410] | Chr20:35511479..35511482 [GRCh38] Chr20:34099308..34099311 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6946C>T (p.Arg2316Cys) | single nucleotide variant | not provided [RCV001980528] | Chr20:35508982 [GRCh38] Chr20:34096811 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6256G>A (p.Glu2086Lys) | single nucleotide variant | not provided [RCV002048528] | Chr20:35504625 [GRCh38] Chr20:34092453 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2168T>C (p.Val723Ala) | single nucleotide variant | not provided [RCV001999325] | Chr20:35479304 [GRCh38] Chr20:34067129 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1555C>T (p.Arg519Trp) | single nucleotide variant | not provided [RCV002033737] | Chr20:35474036 [GRCh38] Chr20:34061861 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1468C>T (p.Arg490Ter) | single nucleotide variant | not provided [RCV001999791] | Chr20:35473949 [GRCh38] Chr20:34061774 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.4100C>T (p.Ala1367Val) | single nucleotide variant | not provided [RCV002036657] | Chr20:35502469 [GRCh38] Chr20:34090297 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3272A>G (p.Glu1091Gly) | single nucleotide variant | not provided [RCV002001358] | Chr20:35496681 [GRCh38] Chr20:34084510 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2986del (p.Glu996fs) | deletion | not provided [RCV001937952] | Chr20:35493525 [GRCh38] Chr20:34081352 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.722G>A (p.Arg241Gln) | single nucleotide variant | not provided [RCV001973431] | Chr20:35467426 [GRCh38] Chr20:34055251 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6842G>A (p.Arg2281Gln) | single nucleotide variant | not provided [RCV001884824] | Chr20:35508126 [GRCh38] Chr20:34095955 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2419G>C (p.Glu807Gln) | single nucleotide variant | not provided [RCV001937840] | Chr20:35479978 [GRCh38] Chr20:34067803 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.688C>T (p.Arg230Trp) | single nucleotide variant | not provided [RCV001887526] | Chr20:35467392 [GRCh38] Chr20:34055217 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4321C>T (p.Arg1441Trp) | single nucleotide variant | not provided [RCV001885720] | Chr20:35502690 [GRCh38] Chr20:34090518 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4007G>A (p.Arg1336Gln) | single nucleotide variant | not provided [RCV002037415] | Chr20:35501953 [GRCh38] Chr20:34089780 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2566A>G (p.Asn856Asp) | single nucleotide variant | not provided [RCV002037452] | Chr20:35480125 [GRCh38] Chr20:34067950 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.673G>A (p.Val225Met) | single nucleotide variant | not provided [RCV001963602] | Chr20:35467377 [GRCh38] Chr20:34055202 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3134G>A (p.Arg1045Gln) | single nucleotide variant | not provided [RCV001925727] | Chr20:35494624 [GRCh38] Chr20:34082451 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.119G>A (p.Arg40Gln) | single nucleotide variant | not provided [RCV001921736] | Chr20:35462486 [GRCh38] Chr20:34050311 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4952A>G (p.Gln1651Arg) | single nucleotide variant | not provided [RCV002047847] | Chr20:35503321 [GRCh38] Chr20:34091149 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.791G>A (p.Ser264Asn) | single nucleotide variant | not provided [RCV002027971] | Chr20:35467495 [GRCh38] Chr20:34055320 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1389-7C>A | single nucleotide variant | not provided [RCV001939858] | Chr20:35473863 [GRCh38] Chr20:34061688 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2155C>T (p.Arg719Ter) | single nucleotide variant | not provided [RCV001975179] | Chr20:35479291 [GRCh38] Chr20:34067116 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.274G>A (p.Glu92Lys) | single nucleotide variant | not provided [RCV002016752] | Chr20:35465773 [GRCh38] Chr20:34053598 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3989G>A (p.Arg1330Gln) | single nucleotide variant | Inborn genetic diseases [RCV003355752]|not provided [RCV001996134] | Chr20:35501935 [GRCh38] Chr20:34089762 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7126C>T (p.Arg2376Cys) | single nucleotide variant | not provided [RCV001954109] | Chr20:35511423 [GRCh38] Chr20:34099252 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7088T>G (p.Leu2363Arg) | single nucleotide variant | not provided [RCV001990906] | Chr20:35511385 [GRCh38] Chr20:34099214 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.248C>T (p.Pro83Leu) | single nucleotide variant | not provided [RCV002010311] | Chr20:35465747 [GRCh38] Chr20:34053572 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3331A>G (p.Lys1111Glu) | single nucleotide variant | not provided [RCV001993800] | Chr20:35497743 [GRCh38] Chr20:34085572 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4298G>C (p.Arg1433Thr) | single nucleotide variant | not provided [RCV001953052] | Chr20:35502667 [GRCh38] Chr20:34090495 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2099G>A (p.Arg700His) | single nucleotide variant | not provided [RCV002014314] | Chr20:35479235 [GRCh38] Chr20:34067060 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3083T>C (p.Leu1028Pro) | single nucleotide variant | not provided [RCV001958196] | Chr20:35494573 [GRCh38] Chr20:34082400 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7327del (p.Ter2443SerextTer?) | deletion | not provided [RCV001916669] | Chr20:35511624 [GRCh38] Chr20:34099453 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3502G>A (p.Ala1168Thr) | single nucleotide variant | not provided [RCV002012929] | Chr20:35497914 [GRCh38] Chr20:34085743 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3551G>A (p.Ser1184Asn) | single nucleotide variant | not provided [RCV001976761] | Chr20:35497963 [GRCh38] Chr20:34085792 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6871C>T (p.Arg2291Cys) | single nucleotide variant | not provided [RCV001955862] | Chr20:35508155 [GRCh38] Chr20:34095984 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5248G>A (p.Glu1750Lys) | single nucleotide variant | not provided [RCV001990041] | Chr20:35503617 [GRCh38] Chr20:34091445 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.785A>G (p.Glu262Gly) | single nucleotide variant | not provided [RCV001977451] | Chr20:35467489 [GRCh38] Chr20:34055314 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1115A>C (p.Asp372Ala) | single nucleotide variant | not provided [RCV002033524] | Chr20:35472737 [GRCh38] Chr20:34060562 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5156C>A (p.Ala1719Glu) | single nucleotide variant | not provided [RCV002033525] | Chr20:35503525 [GRCh38] Chr20:34091353 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1636C>T (p.Arg546Trp) | single nucleotide variant | not provided [RCV002030919] | Chr20:35475566 [GRCh38] Chr20:34063391 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2032C>G (p.Leu678Val) | single nucleotide variant | not provided [RCV001916831] | Chr20:35478039 [GRCh38] Chr20:34065864 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1936G>A (p.Asp646Asn) | single nucleotide variant | not provided [RCV001973129] | Chr20:35477943 [GRCh38] Chr20:34065768 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3649G>C (p.Glu1217Gln) | single nucleotide variant | not provided [RCV002013403] | Chr20:35498061 [GRCh38] Chr20:34085890 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6585G>A (p.Met2195Ile) | single nucleotide variant | not provided [RCV001975815] | Chr20:35504954 [GRCh38] Chr20:34092782 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.665G>T (p.Arg222Leu) | single nucleotide variant | not provided [RCV001877738] | Chr20:35467369 [GRCh38] Chr20:34055194 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6173A>T (p.Glu2058Val) | single nucleotide variant | not provided [RCV001991394] | Chr20:35504542 [GRCh38] Chr20:34092370 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4043C>A (p.Ala1348Glu) | single nucleotide variant | not provided [RCV002009504] | Chr20:35502412 [GRCh38] Chr20:34090240 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4196G>A (p.Arg1399His) | single nucleotide variant | not provided [RCV002028566] | Chr20:35502565 [GRCh38] Chr20:34090393 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7256C>A (p.Thr2419Asn) | single nucleotide variant | not provided [RCV001900995] | Chr20:35511553 [GRCh38] Chr20:34099382 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6103G>A (p.Glu2035Lys) | single nucleotide variant | not provided [RCV001902172] | Chr20:35504472 [GRCh38] Chr20:34092300 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.370A>T (p.Met124Leu) | single nucleotide variant | not provided [RCV001916914] | Chr20:35466082 [GRCh38] Chr20:34053907 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.327-4G>A | single nucleotide variant | not provided [RCV001954711] | Chr20:35466035 [GRCh38] Chr20:34053860 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_007186.6(CEP250):c.7126C>A (p.Arg2376Ser) | single nucleotide variant | not provided [RCV002048623] | Chr20:35511423 [GRCh38] Chr20:34099252 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2417-8C>T | single nucleotide variant | not provided [RCV001935469] | Chr20:35479968 [GRCh38] Chr20:34067793 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6736G>T (p.Val2246Leu) | single nucleotide variant | not provided [RCV001876690] | Chr20:35507837 [GRCh38] Chr20:34095666 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1597G>A (p.Ala533Thr) | single nucleotide variant | not provided [RCV001899689] | Chr20:35475527 [GRCh38] Chr20:34063352 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NC_000020.10:g.(?_31189994)_(34287210_?)del | deletion | not provided [RCV001956104] | Chr20:31189994..34287210 [GRCh37] Chr20:20q11.21-11.22 |
pathogenic |
NM_007186.6(CEP250):c.7157G>A (p.Gly2386Asp) | single nucleotide variant | not provided [RCV001917224] | Chr20:35511454 [GRCh38] Chr20:34099283 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3628G>A (p.Ala1210Thr) | single nucleotide variant | Inborn genetic diseases [RCV002571186]|not provided [RCV001990418] | Chr20:35498040 [GRCh38] Chr20:34085869 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2314A>T (p.Ser772Cys) | single nucleotide variant | not provided [RCV002028836] | Chr20:35479671 [GRCh38] Chr20:34067496 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2773_2775del (p.Lys925del) | deletion | not provided [RCV002050123] | Chr20:35491228..35491230 [GRCh38] Chr20:34079054..34079056 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5885G>A (p.Arg1962Gln) | single nucleotide variant | not provided [RCV001973551] | Chr20:35504254 [GRCh38] Chr20:34092082 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3715G>A (p.Glu1239Lys) | single nucleotide variant | not provided [RCV002046320] | Chr20:35498654 [GRCh38] Chr20:34086483 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.123G>C (p.Lys41Asn) | single nucleotide variant | not provided [RCV001877042] | Chr20:35462490 [GRCh38] Chr20:34050315 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6658C>T (p.Arg2220Trp) | single nucleotide variant | not provided [RCV001899978] | Chr20:35507759 [GRCh38] Chr20:34095588 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5394G>C (p.Glu1798Asp) | single nucleotide variant | not provided [RCV002030174] | Chr20:35503763 [GRCh38] Chr20:34091591 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5923G>T (p.Ala1975Ser) | single nucleotide variant | not provided [RCV002009998] | Chr20:35504292 [GRCh38] Chr20:34092120 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5975G>T (p.Arg1992Leu) | single nucleotide variant | not provided [RCV001917479] | Chr20:35504344 [GRCh38] Chr20:34092172 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.852-3T>C | single nucleotide variant | not provided [RCV002051255] | Chr20:35469887 [GRCh38] Chr20:34057712 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1306C>T (p.Arg436Trp) | single nucleotide variant | not provided [RCV001977747] | Chr20:35473470 [GRCh38] Chr20:34061295 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1867GAG[2] (p.Glu625del) | microsatellite | not provided [RCV001865189] | Chr20:35477874..35477876 [GRCh38] Chr20:34065699..34065701 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5076G>C (p.Leu1692Phe) | single nucleotide variant | not provided [RCV001866821] | Chr20:35503445 [GRCh38] Chr20:34091273 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5401C>T (p.Leu1801Phe) | single nucleotide variant | not provided [RCV001902376] | Chr20:35503770 [GRCh38] Chr20:34091598 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4577A>T (p.His1526Leu) | single nucleotide variant | not provided [RCV002014883] | Chr20:35502946 [GRCh38] Chr20:34090774 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3188A>C (p.Glu1063Ala) | single nucleotide variant | not provided [RCV002016009] | Chr20:35496597 [GRCh38] Chr20:34084426 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.598A>G (p.Arg200Gly) | single nucleotide variant | Inborn genetic diseases [RCV002551095]|not provided [RCV001877221] | Chr20:35467071 [GRCh38] Chr20:34054896 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4540G>A (p.Glu1514Lys) | single nucleotide variant | not provided [RCV001917712] | Chr20:35502909 [GRCh38] Chr20:34090737 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5168G>A (p.Ser1723Asn) | single nucleotide variant | not provided [RCV001979388] | Chr20:35503537 [GRCh38] Chr20:34091365 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1150G>A (p.Ala384Thr) | single nucleotide variant | not provided [RCV002034223] | Chr20:35472772 [GRCh38] Chr20:34060597 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1447G>A (p.Glu483Lys) | single nucleotide variant | not provided [RCV001961442] | Chr20:35473928 [GRCh38] Chr20:34061753 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3192G>T (p.Lys1064Asn) | single nucleotide variant | not provided [RCV001933788] | Chr20:35496601 [GRCh38] Chr20:34084430 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4522G>C (p.Glu1508Gln) | single nucleotide variant | not provided [RCV001936094] | Chr20:35502891 [GRCh38] Chr20:34090719 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3517G>A (p.Gly1173Arg) | single nucleotide variant | not provided [RCV001981791] | Chr20:35497929 [GRCh38] Chr20:34085758 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3115G>A (p.Glu1039Lys) | single nucleotide variant | not provided [RCV001975423] | Chr20:35494605 [GRCh38] Chr20:34082432 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5659G>C (p.Glu1887Gln) | single nucleotide variant | not provided [RCV001975525] | Chr20:35504028 [GRCh38] Chr20:34091856 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.245G>A (p.Gly82Glu) | single nucleotide variant | not provided [RCV002015368] | Chr20:35465744 [GRCh38] Chr20:34053569 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3872A>G (p.Gln1291Arg) | single nucleotide variant | not provided [RCV001905835] | Chr20:35500143 [GRCh38] Chr20:34087972 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6832G>T (p.Ala2278Ser) | single nucleotide variant | not provided [RCV001998309] | Chr20:35508116 [GRCh38] Chr20:34095945 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1501G>A (p.Asp501Asn) | single nucleotide variant | not provided [RCV001999497] | Chr20:35473982 [GRCh38] Chr20:34061807 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3659A>G (p.Gln1220Arg) | single nucleotide variant | Inborn genetic diseases [RCV003375450]|not provided [RCV001919298] | Chr20:35498598 [GRCh38] Chr20:34086427 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7169G>A (p.Ser2390Asn) | single nucleotide variant | not provided [RCV001900675] | Chr20:35511466 [GRCh38] Chr20:34099295 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6189G>T (p.Lys2063Asn) | single nucleotide variant | not provided [RCV002031874] | Chr20:35504558 [GRCh38] Chr20:34092386 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3494C>T (p.Ala1165Val) | single nucleotide variant | not provided [RCV001921597] | Chr20:35497906 [GRCh38] Chr20:34085735 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NC_000020.10:g.(?_34050193)_(34099455_?)del | deletion | not provided [RCV001958598] | Chr20:34050193..34099455 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.850C>T (p.Arg284Trp) | single nucleotide variant | not provided [RCV002017208] | Chr20:35467554 [GRCh38] Chr20:34055379 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6470C>A (p.Ala2157Glu) | single nucleotide variant | not provided [RCV001904007] | Chr20:35504839 [GRCh38] Chr20:34092667 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2627C>T (p.Ala876Val) | single nucleotide variant | Inborn genetic diseases [RCV002550444]|not provided [RCV002048478] | Chr20:35490677 [GRCh38] Chr20:34078503 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7234C>T (p.Arg2412Cys) | single nucleotide variant | not provided [RCV001932820] | Chr20:35511531 [GRCh38] Chr20:34099360 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5090G>C (p.Arg1697Pro) | single nucleotide variant | Inborn genetic diseases [RCV002545839]|not provided [RCV001876618] | Chr20:35503459 [GRCh38] Chr20:34091287 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4641C>A (p.Asp1547Glu) | single nucleotide variant | not provided [RCV001956978] | Chr20:35503010 [GRCh38] Chr20:34090838 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3523C>A (p.Gln1175Lys) | single nucleotide variant | not provided [RCV001973267] | Chr20:35497935 [GRCh38] Chr20:34085764 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2026G>T (p.Ala676Ser) | single nucleotide variant | not provided [RCV001994998] | Chr20:35478033 [GRCh38] Chr20:34065858 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1196G>A (p.Arg399His) | single nucleotide variant | not provided [RCV001904098] | Chr20:35472818 [GRCh38] Chr20:34060643 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6905A>G (p.Gln2302Arg) | single nucleotide variant | not provided [RCV002049943] | Chr20:35508189 [GRCh38] Chr20:34096018 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5299G>A (p.Gly1767Ser) | single nucleotide variant | not provided [RCV002030067] | Chr20:35503668 [GRCh38] Chr20:34091496 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.158C>A (p.Ala53Glu) | single nucleotide variant | not provided [RCV002051243] | Chr20:35462525 [GRCh38] Chr20:34050350 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4027C>T (p.Arg1343Ter) | single nucleotide variant | not provided [RCV001979029] | Chr20:35502396 [GRCh38] Chr20:34090224 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.597C>G (p.Asp199Glu) | single nucleotide variant | not provided [RCV001880865] | Chr20:35467070 [GRCh38] Chr20:34054895 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3940G>C (p.Glu1314Gln) | single nucleotide variant | not provided [RCV002033947] | Chr20:35501886 [GRCh38] Chr20:34089713 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1652C>A (p.Ser551Ter) | single nucleotide variant | not provided [RCV001940542] | Chr20:35475582 [GRCh38] Chr20:34063407 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.5527C>T (p.Leu1843Phe) | single nucleotide variant | not provided [RCV001875375] | Chr20:35503896 [GRCh38] Chr20:34091724 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3746A>G (p.His1249Arg) | single nucleotide variant | not provided [RCV001977250] | Chr20:35498685 [GRCh38] Chr20:34086514 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.852G>T (p.Arg284=) | single nucleotide variant | not provided [RCV002051324] | Chr20:35469890 [GRCh38] Chr20:34057715 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6673G>C (p.Glu2225Gln) | single nucleotide variant | not provided [RCV001982076] | Chr20:35507774 [GRCh38] Chr20:34095603 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3134G>T (p.Arg1045Leu) | single nucleotide variant | not provided [RCV001883002] | Chr20:35494624 [GRCh38] Chr20:34082451 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1549G>A (p.Ala517Thr) | single nucleotide variant | not provided [RCV001883003] | Chr20:35474030 [GRCh38] Chr20:34061855 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.263G>A (p.Trp88Ter) | single nucleotide variant | not provided [RCV002035303] | Chr20:35465762 [GRCh38] Chr20:34053587 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.578A>C (p.Glu193Ala) | single nucleotide variant | not provided [RCV001898770] | Chr20:35467051 [GRCh38] Chr20:34054876 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2417-6T>C | single nucleotide variant | not provided [RCV002030338] | Chr20:35479970 [GRCh38] Chr20:34067795 [GRCh37] Chr20:20q11.22 |
likely benign|uncertain significance |
NM_007186.6(CEP250):c.6496G>A (p.Glu2166Lys) | single nucleotide variant | not provided [RCV002016883] | Chr20:35504865 [GRCh38] Chr20:34092693 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3637G>A (p.Val1213Ile) | single nucleotide variant | not provided [RCV001996833] | Chr20:35498049 [GRCh38] Chr20:34085878 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2572C>A (p.Leu858Ile) | single nucleotide variant | not provided [RCV002047766] | Chr20:35480131 [GRCh38] Chr20:34067956 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3254T>C (p.Leu1085Pro) | single nucleotide variant | not provided [RCV001992022] | Chr20:35496663 [GRCh38] Chr20:34084492 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4336G>C (p.Glu1446Gln) | single nucleotide variant | not provided [RCV002031535] | Chr20:35502705 [GRCh38] Chr20:34090533 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5287C>T (p.His1763Tyr) | single nucleotide variant | not provided [RCV001979278] | Chr20:35503656 [GRCh38] Chr20:34091484 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1051G>A (p.Val351Ile) | single nucleotide variant | not provided [RCV001933494] | Chr20:35472673 [GRCh38] Chr20:34060498 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.520C>A (p.His174Asn) | single nucleotide variant | not provided [RCV001877301] | Chr20:35466993 [GRCh38] Chr20:34054818 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5629G>A (p.Val1877Met) | single nucleotide variant | not provided [RCV001955523] | Chr20:35503998 [GRCh38] Chr20:34091826 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1463G>A (p.Arg488His) | single nucleotide variant | not provided [RCV001976515] | Chr20:35473944 [GRCh38] Chr20:34061769 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2912C>T (p.Thr971Ile) | single nucleotide variant | not provided [RCV001973558] | Chr20:35493451 [GRCh38] Chr20:34081278 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1388+6C>T | single nucleotide variant | not provided [RCV001917408] | Chr20:35473558 [GRCh38] Chr20:34061383 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6073G>A (p.Glu2025Lys) | single nucleotide variant | not provided [RCV001879708] | Chr20:35504442 [GRCh38] Chr20:34092270 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1235del (p.Cys412fs) | deletion | not provided [RCV001881925] | Chr20:35473399 [GRCh38] Chr20:34061224 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.5107A>T (p.Arg1703Trp) | single nucleotide variant | Inborn genetic diseases [RCV002556441]|not provided [RCV001938297] | Chr20:35503476 [GRCh38] Chr20:34091304 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5125C>T (p.Arg1709Trp) | single nucleotide variant | not provided [RCV002034256] | Chr20:35503494 [GRCh38] Chr20:34091322 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6580G>A (p.Ala2194Thr) | single nucleotide variant | not provided [RCV002016043] | Chr20:35504949 [GRCh38] Chr20:34092777 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.935_936inv (p.Thr312Met) | inversion | not provided [RCV002033750] | Chr20:35469973..35469974 [GRCh38] Chr20:34057798..34057799 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.523G>A (p.Gly175Ser) | single nucleotide variant | not provided [RCV001981391] | Chr20:35466996 [GRCh38] Chr20:34054821 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2576G>C (p.Arg859Pro) | single nucleotide variant | not provided [RCV002026919] | Chr20:35480135 [GRCh38] Chr20:34067960 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2867A>G (p.Lys956Arg) | single nucleotide variant | not provided [RCV001924583] | Chr20:35491324 [GRCh38] Chr20:34079150 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4438C>A (p.Gln1480Lys) | single nucleotide variant | not provided [RCV001997187] | Chr20:35502807 [GRCh38] Chr20:34090635 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3485A>C (p.Gln1162Pro) | single nucleotide variant | not provided [RCV002018891] | Chr20:35497897 [GRCh38] Chr20:34085726 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3292G>C (p.Glu1098Gln) | single nucleotide variant | not provided [RCV002036645] | Chr20:35496701 [GRCh38] Chr20:34084530 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6684C>G (p.His2228Gln) | single nucleotide variant | not provided [RCV001997796] | Chr20:35507785 [GRCh38] Chr20:34095614 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6826C>T (p.Gln2276Ter) | single nucleotide variant | not provided [RCV001981631] | Chr20:35508110 [GRCh38] Chr20:34095939 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.4796A>G (p.Glu1599Gly) | single nucleotide variant | not provided [RCV002019280] | Chr20:35503165 [GRCh38] Chr20:34090993 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.440G>A (p.Arg147Gln) | single nucleotide variant | not provided [RCV001939014] | Chr20:35466152 [GRCh38] Chr20:34053977 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2909A>C (p.Gln970Pro) | single nucleotide variant | Inborn genetic diseases [RCV003289170]|not provided [RCV001924887] | Chr20:35493448 [GRCh38] Chr20:34081275 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6807A>T (p.Arg2269Ser) | single nucleotide variant | not provided [RCV001882345] | Chr20:35508091 [GRCh38] Chr20:34095920 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7163A>G (p.His2388Arg) | single nucleotide variant | not provided [RCV001900634] | Chr20:35511460 [GRCh38] Chr20:34099289 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6162G>T (p.Gln2054His) | single nucleotide variant | not provided [RCV002031490] | Chr20:35504531 [GRCh38] Chr20:34092359 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3106A>C (p.Lys1036Gln) | single nucleotide variant | not provided [RCV002029818] | Chr20:35494596 [GRCh38] Chr20:34082423 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6460C>T (p.Arg2154Trp) | single nucleotide variant | not provided [RCV001920398] | Chr20:35504829 [GRCh38] Chr20:34092657 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4202G>C (p.Arg1401Thr) | single nucleotide variant | not provided [RCV001864829] | Chr20:35502571 [GRCh38] Chr20:34090399 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6487_6488del (p.Glu2163fs) | deletion | not provided [RCV001994468] | Chr20:35504855..35504856 [GRCh38] Chr20:34092683..34092684 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.4697A>G (p.His1566Arg) | single nucleotide variant | not provided [RCV002031572] | Chr20:35503066 [GRCh38] Chr20:34090894 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1601_1602delinsGT (p.Lys534Ser) | indel | not provided [RCV001934136] | Chr20:35475531..35475532 [GRCh38] Chr20:34063356..34063357 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3799C>T (p.Gln1267Ter) | single nucleotide variant | not provided [RCV001994717] | Chr20:35500070 [GRCh38] Chr20:34087899 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.493-2A>G | single nucleotide variant | not provided [RCV002010739] | Chr20:35466964 [GRCh38] Chr20:34054789 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_007186.6(CEP250):c.3029A>C (p.Lys1010Thr) | single nucleotide variant | not provided [RCV002030708] | Chr20:35493568 [GRCh38] Chr20:34081395 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4567G>A (p.Val1523Ile) | single nucleotide variant | not provided [RCV001957923] | Chr20:35502936 [GRCh38] Chr20:34090764 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6546G>T (p.Gln2182His) | single nucleotide variant | not provided [RCV002015384] | Chr20:35504915 [GRCh38] Chr20:34092743 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2604G>C (p.Trp868Cys) | single nucleotide variant | not provided [RCV001898459] | Chr20:35490654 [GRCh38] Chr20:34078480 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4205C>T (p.Ala1402Val) | single nucleotide variant | not provided [RCV001918862] | Chr20:35502574 [GRCh38] Chr20:34090402 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3944T>G (p.Leu1315Arg) | single nucleotide variant | not provided [RCV001974027] | Chr20:35501890 [GRCh38] Chr20:34089717 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1211A>G (p.Asp404Gly) | single nucleotide variant | not provided [RCV001900990] | Chr20:35473375 [GRCh38] Chr20:34061200 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1159G>T (p.Ala387Ser) | single nucleotide variant | Inborn genetic diseases [RCV002560455]|not provided [RCV001921535] | Chr20:35472781 [GRCh38] Chr20:34060606 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6610C>T (p.Arg2204Trp) | single nucleotide variant | Inborn genetic diseases [RCV002642002]|not provided [RCV002015392] | Chr20:35504979 [GRCh38] Chr20:34092807 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4040A>G (p.Gln1347Arg) | single nucleotide variant | not provided [RCV001920758] | Chr20:35502409 [GRCh38] Chr20:34090237 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6950C>T (p.Ala2317Val) | single nucleotide variant | not provided [RCV002009889] | Chr20:35508986 [GRCh38] Chr20:34096815 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.916A>G (p.Ile306Val) | single nucleotide variant | not provided [RCV001992096] | Chr20:35469954 [GRCh38] Chr20:34057779 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3670A>G (p.Arg1224Gly) | single nucleotide variant | not provided [RCV001989486] | Chr20:35498609 [GRCh38] Chr20:34086438 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3616G>T (p.Gly1206Trp) | single nucleotide variant | not provided [RCV001920821] | Chr20:35498028 [GRCh38] Chr20:34085857 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7144C>T (p.Arg2382Cys) | single nucleotide variant | not provided [RCV001875652] | Chr20:35511441 [GRCh38] Chr20:34099270 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.337del (p.Ser112_Leu113insTer) | deletion | not provided [RCV001904423] | Chr20:35466049 [GRCh38] Chr20:34053874 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.5162G>A (p.Arg1721His) | single nucleotide variant | not provided [RCV001866743] | Chr20:35503531 [GRCh38] Chr20:34091359 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7139C>A (p.Thr2380Asn) | single nucleotide variant | not provided [RCV001991423] | Chr20:35511436 [GRCh38] Chr20:34099265 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5813G>T (p.Arg1938Leu) | single nucleotide variant | not provided [RCV001881641] | Chr20:35504182 [GRCh38] Chr20:34092010 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5689C>T (p.Arg1897Trp) | single nucleotide variant | not provided [RCV002015661] | Chr20:35504058 [GRCh38] Chr20:34091886 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3858G>T (p.Glu1286Asp) | single nucleotide variant | not provided [RCV002033715] | Chr20:35500129 [GRCh38] Chr20:34087958 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3126G>A (p.Glu1042=) | single nucleotide variant | not provided [RCV002186024] | Chr20:35494616 [GRCh38] Chr20:34082443 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3034-13C>G | single nucleotide variant | not provided [RCV002169874] | Chr20:35494511 [GRCh38] Chr20:34082338 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6924G>A (p.Arg2308=) | single nucleotide variant | not provided [RCV002128422] | Chr20:35508960 [GRCh38] Chr20:34096789 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2811G>A (p.Thr937=) | single nucleotide variant | not provided [RCV002188061] | Chr20:35491268 [GRCh38] Chr20:34079094 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5805C>G (p.Leu1935=) | single nucleotide variant | not provided [RCV002105587] | Chr20:35504174 [GRCh38] Chr20:34092002 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.187-16G>C | single nucleotide variant | not provided [RCV002087535] | Chr20:35463559 [GRCh38] Chr20:34051384 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1571+16C>G | single nucleotide variant | not provided [RCV002090411] | Chr20:35474068 [GRCh38] Chr20:34061893 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2064G>A (p.Glu688=) | single nucleotide variant | not provided [RCV002124358] | Chr20:35478071 [GRCh38] Chr20:34065896 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5497G>A (p.Glu1833Lys) | single nucleotide variant | not provided [RCV002111185] | Chr20:35503866 [GRCh38] Chr20:34091694 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5958G>A (p.Glu1986=) | single nucleotide variant | not provided [RCV002168485] | Chr20:35504327 [GRCh38] Chr20:34092155 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1167T>C (p.Thr389=) | single nucleotide variant | not provided [RCV002072507] | Chr20:35472789 [GRCh38] Chr20:34060614 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2832C>T (p.Ala944=) | single nucleotide variant | not provided [RCV002127977] | Chr20:35491289 [GRCh38] Chr20:34079115 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.405G>A (p.Arg135=) | single nucleotide variant | not provided [RCV002205433] | Chr20:35466117 [GRCh38] Chr20:34053942 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2890-4T>C | single nucleotide variant | not provided [RCV002191675] | Chr20:35493425 [GRCh38] Chr20:34081252 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6189G>A (p.Lys2063=) | single nucleotide variant | not provided [RCV002146569] | Chr20:35504558 [GRCh38] Chr20:34092386 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1428G>T (p.Arg476=) | single nucleotide variant | not provided [RCV002127731] | Chr20:35473909 [GRCh38] Chr20:34061734 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4839C>T (p.Asp1613=) | single nucleotide variant | not provided [RCV002147898] | Chr20:35503208 [GRCh38] Chr20:34091036 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2586+10C>A | single nucleotide variant | not provided [RCV002210563] | Chr20:35480155 [GRCh38] Chr20:34067980 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3468G>T (p.Leu1156=) | single nucleotide variant | not provided [RCV002107138] | Chr20:35497880 [GRCh38] Chr20:34085709 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3030G>A (p.Lys1010=) | single nucleotide variant | not provided [RCV002146855] | Chr20:35493569 [GRCh38] Chr20:34081396 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2586+12A>G | single nucleotide variant | not provided [RCV002129857] | Chr20:35480157 [GRCh38] Chr20:34067982 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.6898T>C (p.Leu2300=) | single nucleotide variant | not provided [RCV002124694] | Chr20:35508182 [GRCh38] Chr20:34096011 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.24G>A (p.Leu8=) | single nucleotide variant | not provided [RCV002208924] | Chr20:35462391 [GRCh38] Chr20:34050216 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6906+14T>G | single nucleotide variant | not provided [RCV002189456] | Chr20:35508204 [GRCh38] Chr20:34096033 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.447G>A (p.Arg149=) | single nucleotide variant | not provided [RCV002190939] | Chr20:35466159 [GRCh38] Chr20:34053984 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4021-12C>G | single nucleotide variant | not provided [RCV002207587] | Chr20:35502378 [GRCh38] Chr20:34090206 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2289-15T>C | single nucleotide variant | not provided [RCV002074550] | Chr20:35479631 [GRCh38] Chr20:34067456 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3499G>T (p.Ala1167Ser) | single nucleotide variant | not provided [RCV002146094] | Chr20:35497911 [GRCh38] Chr20:34085740 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.2755-17C>T | single nucleotide variant | not provided [RCV002127554] | Chr20:35491195 [GRCh38] Chr20:34079021 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2913C>T (p.Thr971=) | single nucleotide variant | not provided [RCV002205617] | Chr20:35493452 [GRCh38] Chr20:34081279 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.852-11C>T | single nucleotide variant | not provided [RCV002205717] | Chr20:35469879 [GRCh38] Chr20:34057704 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2889+18G>A | single nucleotide variant | not provided [RCV002169162] | Chr20:35491364 [GRCh38] Chr20:34079190 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.244-4G>A | single nucleotide variant | not provided [RCV002071752] | Chr20:35465739 [GRCh38] Chr20:34053564 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6636+20G>A | single nucleotide variant | not provided [RCV002191424] | Chr20:35505025 [GRCh38] Chr20:34092853 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3930C>G (p.Ser1310=) | single nucleotide variant | not provided [RCV002109776] | Chr20:35501876 [GRCh38] Chr20:34089703 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1717-14T>A | single nucleotide variant | not provided [RCV002192389] | Chr20:35476435 [GRCh38] Chr20:34064260 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3399C>T (p.Ile1133=) | single nucleotide variant | not provided [RCV002208370] | Chr20:35497811 [GRCh38] Chr20:34085640 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1864-16C>G | single nucleotide variant | not provided [RCV002148773] | Chr20:35477855 [GRCh38] Chr20:34065680 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.244-10_244-7del | microsatellite | not provided [RCV002148790] | Chr20:35465729..35465732 [GRCh38] Chr20:34053554..34053557 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2784A>T (p.Val928=) | single nucleotide variant | not provided [RCV002130025] | Chr20:35491241 [GRCh38] Chr20:34079067 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1644C>T (p.Ala548=) | single nucleotide variant | not provided [RCV002130046] | Chr20:35475574 [GRCh38] Chr20:34063399 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2535G>A (p.Glu845=) | single nucleotide variant | not provided [RCV002170075] | Chr20:35480094 [GRCh38] Chr20:34067919 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2416+16G>C | single nucleotide variant | not provided [RCV002185822] | Chr20:35479789 [GRCh38] Chr20:34067614 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1833T>C (p.Asp611=) | single nucleotide variant | not provided [RCV002166283] | Chr20:35476565 [GRCh38] Chr20:34064390 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5115G>A (p.Leu1705=) | single nucleotide variant | not provided [RCV002117003] | Chr20:35503484 [GRCh38] Chr20:34091312 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1203T>C (p.Ala401=) | single nucleotide variant | not provided [RCV002080919] | Chr20:35472825 [GRCh38] Chr20:34060650 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1917G>A (p.Ala639=) | single nucleotide variant | not provided [RCV002093334] | Chr20:35477924 [GRCh38] Chr20:34065749 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.729G>A (p.Pro243=) | single nucleotide variant | not provided [RCV002196202] | Chr20:35467433 [GRCh38] Chr20:34055258 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4914G>A (p.Gln1638=) | single nucleotide variant | not provided [RCV002214885] | Chr20:35503283 [GRCh38] Chr20:34091111 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4021-13T>C | single nucleotide variant | not provided [RCV002212866] | Chr20:35502377 [GRCh38] Chr20:34090205 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6501T>C (p.Ile2167=) | single nucleotide variant | not provided [RCV002080276] | Chr20:35504870 [GRCh38] Chr20:34092698 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7009-17C>T | single nucleotide variant | not provided [RCV002134661] | Chr20:35509981 [GRCh38] Chr20:34097810 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2755-15C>T | single nucleotide variant | not provided [RCV002078540] | Chr20:35491197 [GRCh38] Chr20:34079023 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.599+18_599+20del | microsatellite | not provided [RCV002093378] | Chr20:35467085..35467087 [GRCh38] Chr20:34054910..34054912 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6966C>G (p.Ser2322=) | single nucleotide variant | not provided [RCV002172735] | Chr20:35509002 [GRCh38] Chr20:34096831 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5523C>T (p.Asp1841=) | single nucleotide variant | not provided [RCV002078898] | Chr20:35503892 [GRCh38] Chr20:34091720 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5715C>T (p.Ala1905=) | single nucleotide variant | not provided [RCV002130772] | Chr20:35504084 [GRCh38] Chr20:34091912 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1111T>C (p.Leu371=) | single nucleotide variant | not provided [RCV002171195] | Chr20:35472733 [GRCh38] Chr20:34060558 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5454A>G (p.Glu1818=) | single nucleotide variant | not provided [RCV002146401] | Chr20:35503823 [GRCh38] Chr20:34091651 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.646C>T (p.Leu216=) | single nucleotide variant | not provided [RCV002195572] | Chr20:35467350 [GRCh38] Chr20:34055175 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7320C>T (p.Ala2440=) | single nucleotide variant | not provided [RCV002079139] | Chr20:35511617 [GRCh38] Chr20:34099446 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1210-14C>T | single nucleotide variant | not provided [RCV002114898] | Chr20:35473360 [GRCh38] Chr20:34061185 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6798G>A (p.Gln2266=) | single nucleotide variant | not provided [RCV002150185] | Chr20:35508082 [GRCh38] Chr20:34095911 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5931G>A (p.Leu1977=) | single nucleotide variant | not provided [RCV002172890] | Chr20:35504300 [GRCh38] Chr20:34092128 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1257G>A (p.Leu419=) | single nucleotide variant | not provided [RCV002172887] | Chr20:35473421 [GRCh38] Chr20:34061246 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3985C>T (p.Leu1329=) | single nucleotide variant | not provided [RCV002166338] | Chr20:35501931 [GRCh38] Chr20:34089758 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2288+9C>G | single nucleotide variant | not provided [RCV002073832] | Chr20:35479433 [GRCh38] Chr20:34067258 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2427G>A (p.Arg809=) | single nucleotide variant | not provided [RCV002152785] | Chr20:35479986 [GRCh38] Chr20:34067811 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1050+15C>G | single nucleotide variant | not provided [RCV002197585] | Chr20:35472166 [GRCh38] Chr20:34059991 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3033+10T>C | single nucleotide variant | not provided [RCV002131753] | Chr20:35493582 [GRCh38] Chr20:34081409 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4413G>A (p.Glu1471=) | single nucleotide variant | not provided [RCV002093013] | Chr20:35502782 [GRCh38] Chr20:34090610 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3306+19A>G | single nucleotide variant | not provided [RCV002078790] | Chr20:35496734 [GRCh38] Chr20:34084563 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.492+12G>A | single nucleotide variant | not provided [RCV002131514] | Chr20:35466216 [GRCh38] Chr20:34054041 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1716+15C>T | single nucleotide variant | not provided [RCV002127587] | Chr20:35475661 [GRCh38] Chr20:34063486 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5082G>A (p.Glu1694=) | single nucleotide variant | not provided [RCV002086825] | Chr20:35503451 [GRCh38] Chr20:34091279 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1002G>A (p.Ala334=) | single nucleotide variant | not provided [RCV002113811] | Chr20:35472103 [GRCh38] Chr20:34059928 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5874T>C (p.Ala1958=) | single nucleotide variant | not provided [RCV002146334] | Chr20:35504243 [GRCh38] Chr20:34092071 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3387G>A (p.Glu1129=) | single nucleotide variant | not provided [RCV002093214] | Chr20:35497799 [GRCh38] Chr20:34085628 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1864-15C>G | single nucleotide variant | not provided [RCV002130830] | Chr20:35477856 [GRCh38] Chr20:34065681 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4353G>A (p.Arg1451=) | single nucleotide variant | not provided [RCV002151762] | Chr20:35502722 [GRCh38] Chr20:34090550 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1050+11G>A | single nucleotide variant | not provided [RCV002171743] | Chr20:35472162 [GRCh38] Chr20:34059987 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5073C>A (p.Ser1691=) | single nucleotide variant | not provided [RCV002093469] | Chr20:35503442 [GRCh38] Chr20:34091270 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3952C>T (p.Leu1318=) | single nucleotide variant | not provided [RCV002214803] | Chr20:35501898 [GRCh38] Chr20:34089725 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4672C>T (p.Leu1558=) | single nucleotide variant | not provided [RCV002133645] | Chr20:35503041 [GRCh38] Chr20:34090869 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7191C>T (p.Ala2397=) | single nucleotide variant | not provided [RCV002174123] | Chr20:35511488 [GRCh38] Chr20:34099317 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6750+17G>A | single nucleotide variant | not provided [RCV002215398] | Chr20:35507868 [GRCh38] Chr20:34095697 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.949-6G>C | single nucleotide variant | not provided [RCV002191901] | Chr20:35472044 [GRCh38] Chr20:34059869 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5307C>T (p.Thr1769=) | single nucleotide variant | not provided [RCV002094234] | Chr20:35503676 [GRCh38] Chr20:34091504 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3336A>G (p.Glu1112=) | single nucleotide variant | not provided [RCV002107167] | Chr20:35497748 [GRCh38] Chr20:34085577 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3675C>T (p.Ser1225=) | single nucleotide variant | not provided [RCV002212841] | Chr20:35498614 [GRCh38] Chr20:34086443 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3354G>A (p.Leu1118=) | single nucleotide variant | not provided [RCV002077825] | Chr20:35497766 [GRCh38] Chr20:34085595 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4021-9_4021-5del | deletion | not provided [RCV002096284] | Chr20:35502377..35502381 [GRCh38] Chr20:34090205..34090209 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1302A>G (p.Arg434=) | single nucleotide variant | not provided [RCV002196261] | Chr20:35473466 [GRCh38] Chr20:34061291 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2890-8C>T | single nucleotide variant | not provided [RCV002134672] | Chr20:35493421 [GRCh38] Chr20:34081248 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5538T>C (p.Ala1846=) | single nucleotide variant | not provided [RCV002172435] | Chr20:35503907 [GRCh38] Chr20:34091735 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7305C>T (p.Ser2435=) | single nucleotide variant | not provided [RCV002214998] | Chr20:35511602 [GRCh38] Chr20:34099431 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.777A>G (p.Glu259=) | single nucleotide variant | not provided [RCV002116887] | Chr20:35467481 [GRCh38] Chr20:34055306 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1596A>G (p.Glu532=) | single nucleotide variant | not provided [RCV002171449] | Chr20:35475526 [GRCh38] Chr20:34063351 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.186+19T>A | single nucleotide variant | not provided [RCV002172751] | Chr20:35462572 [GRCh38] Chr20:34050397 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6066A>G (p.Gln2022=) | single nucleotide variant | not provided [RCV002173461] | Chr20:35504435 [GRCh38] Chr20:34092263 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3033+20C>G | single nucleotide variant | not provided [RCV002082969] | Chr20:35493592 [GRCh38] Chr20:34081419 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4959C>G (p.Leu1653=) | single nucleotide variant | not provided [RCV002177029] | Chr20:35503328 [GRCh38] Chr20:34091156 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1572-16C>T | single nucleotide variant | not provided [RCV002218345] | Chr20:35475486 [GRCh38] Chr20:34063311 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7066-11C>T | single nucleotide variant | not provided [RCV002154171] | Chr20:35511352 [GRCh38] Chr20:34099181 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6543G>A (p.Ala2181=) | single nucleotide variant | not provided [RCV002220473] | Chr20:35504912 [GRCh38] Chr20:34092740 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4437T>A (p.Ile1479=) | single nucleotide variant | not provided [RCV002217200] | Chr20:35502806 [GRCh38] Chr20:34090634 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3885C>T (p.Ser1295=) | single nucleotide variant | not provided [RCV002081922] | Chr20:35500156 [GRCh38] Chr20:34087985 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.871C>T (p.Leu291=) | single nucleotide variant | not provided [RCV002160590] | Chr20:35469909 [GRCh38] Chr20:34057734 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2586+12A>T | single nucleotide variant | not provided [RCV002199066] | Chr20:35480157 [GRCh38] Chr20:34067982 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1983C>T (p.Asn661=) | single nucleotide variant | not provided [RCV002200765] | Chr20:35477990 [GRCh38] Chr20:34065815 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1864-19T>C | single nucleotide variant | not provided [RCV002219842] | Chr20:35477852 [GRCh38] Chr20:34065677 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4783C>T (p.Leu1595=) | single nucleotide variant | not provided [RCV002155777] | Chr20:35503152 [GRCh38] Chr20:34090980 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.255C>T (p.Pro85=) | single nucleotide variant | not provided [RCV002119324] | Chr20:35465754 [GRCh38] Chr20:34053579 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3273G>A (p.Glu1091=) | single nucleotide variant | not provided [RCV002119244] | Chr20:35496682 [GRCh38] Chr20:34084511 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1388+7A>G | single nucleotide variant | not provided [RCV002083066] | Chr20:35473559 [GRCh38] Chr20:34061384 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3167+20G>A | single nucleotide variant | not provided [RCV002181084] | Chr20:35494677 [GRCh38] Chr20:34082504 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.851+8G>A | single nucleotide variant | not provided [RCV002184453] | Chr20:35467563 [GRCh38] Chr20:34055388 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2691A>G (p.Glu897=) | single nucleotide variant | not provided [RCV002203768] | Chr20:35490741 [GRCh38] Chr20:34078567 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1863+13T>A | single nucleotide variant | not provided [RCV002182859] | Chr20:35476608 [GRCh38] Chr20:34064433 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4497A>G (p.Arg1499=) | single nucleotide variant | not provided [RCV002201853] | Chr20:35502866 [GRCh38] Chr20:34090694 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2587-18T>C | single nucleotide variant | not provided [RCV002141512] | Chr20:35490619 [GRCh38] Chr20:34078445 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6018T>C (p.Asp2006=) | single nucleotide variant | not provided [RCV002143101] | Chr20:35504387 [GRCh38] Chr20:34092215 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7296C>T (p.Pro2432=) | single nucleotide variant | not provided [RCV002143130] | Chr20:35511593 [GRCh38] Chr20:34099422 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3898+9C>T | single nucleotide variant | not provided [RCV002163469] | Chr20:35500178 [GRCh38] Chr20:34088007 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3899-15C>G | single nucleotide variant | not provided [RCV002123922] | Chr20:35501830 [GRCh38] Chr20:34089659 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4227C>T (p.Gly1409=) | single nucleotide variant | not provided [RCV002181733] | Chr20:35502596 [GRCh38] Chr20:34090424 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4620C>T (p.Ser1540=) | single nucleotide variant | not provided [RCV002118286] | Chr20:35502989 [GRCh38] Chr20:34090817 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7008+19G>C | single nucleotide variant | not provided [RCV002204614] | Chr20:35509063 [GRCh38] Chr20:34096892 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3656-14C>T | single nucleotide variant | not provided [RCV002160805] | Chr20:35498581 [GRCh38] Chr20:34086410 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4389G>A (p.Leu1463=) | single nucleotide variant | not provided [RCV002157112] | Chr20:35502758 [GRCh38] Chr20:34090586 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3690G>A (p.Gly1230=) | single nucleotide variant | not provided [RCV002182353] | Chr20:35498629 [GRCh38] Chr20:34086458 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1210-13T>C | single nucleotide variant | not provided [RCV002164442] | Chr20:35473361 [GRCh38] Chr20:34061186 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2755-16C>T | single nucleotide variant | not provided [RCV002121042] | Chr20:35491196 [GRCh38] Chr20:34079022 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.399C>T (p.Ala133=) | single nucleotide variant | not provided [RCV002178840] | Chr20:35466111 [GRCh38] Chr20:34053936 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.357G>A (p.Gln119=) | single nucleotide variant | not provided [RCV002143870] | Chr20:35466069 [GRCh38] Chr20:34053894 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4275C>G (p.Leu1425=) | single nucleotide variant | not provided [RCV002176875] | Chr20:35502644 [GRCh38] Chr20:34090472 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6637-19C>T | single nucleotide variant | not provided [RCV002159059] | Chr20:35507719 [GRCh38] Chr20:34095548 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5790G>A (p.Gln1930=) | single nucleotide variant | not provided [RCV002099952] | Chr20:35504159 [GRCh38] Chr20:34091987 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.186+14C>G | single nucleotide variant | not provided [RCV002182391] | Chr20:35462567 [GRCh38] Chr20:34050392 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.747A>G (p.Leu249=) | single nucleotide variant | not provided [RCV002203192] | Chr20:35467451 [GRCh38] Chr20:34055276 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2755-14dup | duplication | not provided [RCV002163126] | Chr20:35491192..35491193 [GRCh38] Chr20:34079018..34079019 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.1716+12C>T | single nucleotide variant | not provided [RCV002163171] | Chr20:35475658 [GRCh38] Chr20:34063483 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7066-6C>T | single nucleotide variant | not provided [RCV002154267] | Chr20:35511357 [GRCh38] Chr20:34099186 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5922T>C (p.His1974=) | single nucleotide variant | not provided [RCV002121819] | Chr20:35504291 [GRCh38] Chr20:34092119 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.326+14A>G | single nucleotide variant | not provided [RCV002141018] | Chr20:35465839 [GRCh38] Chr20:34053664 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1578G>A (p.Glu526=) | single nucleotide variant | not provided [RCV002202183] | Chr20:35475508 [GRCh38] Chr20:34063333 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.600-18T>C | single nucleotide variant | not provided [RCV002104001] | Chr20:35467286 [GRCh38] Chr20:34055111 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3036G>A (p.Val1012=) | single nucleotide variant | not provided [RCV002203680] | Chr20:35494526 [GRCh38] Chr20:34082353 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2288+8C>A | single nucleotide variant | not provided [RCV002138351] | Chr20:35479432 [GRCh38] Chr20:34067257 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2394T>C (p.Thr798=) | single nucleotide variant | not provided [RCV002160184] | Chr20:35479751 [GRCh38] Chr20:34067576 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5850G>A (p.Gln1950=) | single nucleotide variant | not provided [RCV002158625] | Chr20:35504219 [GRCh38] Chr20:34092047 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4857C>T (p.Thr1619=) | single nucleotide variant | not provided [RCV002178499] | Chr20:35503226 [GRCh38] Chr20:34091054 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6177G>A (p.Gln2059=) | single nucleotide variant | not provided [RCV002201173] | Chr20:35504546 [GRCh38] Chr20:34092374 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2889+11_2889+19del | deletion | not provided [RCV002161509] | Chr20:35491355..35491363 [GRCh38] Chr20:34079181..34079189 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1158G>A (p.Lys386=) | single nucleotide variant | not provided [RCV002199838] | Chr20:35472780 [GRCh38] Chr20:34060605 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3228T>C (p.Ser1076=) | single nucleotide variant | not provided [RCV002220606] | Chr20:35496637 [GRCh38] Chr20:34084466 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6462G>A (p.Arg2154=) | single nucleotide variant | not provided [RCV002161617] | Chr20:35504831 [GRCh38] Chr20:34092659 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6637-4C>G | single nucleotide variant | not provided [RCV002197769] | Chr20:35507734 [GRCh38] Chr20:34095563 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7002A>T (p.Thr2334=) | single nucleotide variant | not provided [RCV002179280] | Chr20:35509038 [GRCh38] Chr20:34096867 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3167+18T>C | single nucleotide variant | not provided [RCV002162179] | Chr20:35494675 [GRCh38] Chr20:34082502 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6637-13C>T | single nucleotide variant | not provided [RCV002178143] | Chr20:35507725 [GRCh38] Chr20:34095554 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2361G>A (p.Lys787=) | single nucleotide variant | not provided [RCV002183820] | Chr20:35479718 [GRCh38] Chr20:34067543 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.825T>C (p.Asp275=) | single nucleotide variant | not provided [RCV002098954] | Chr20:35467529 [GRCh38] Chr20:34055354 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3167+17A>G | single nucleotide variant | not provided [RCV002143899] | Chr20:35494674 [GRCh38] Chr20:34082501 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3655+17A>G | single nucleotide variant | not provided [RCV002140104] | Chr20:35498084 [GRCh38] Chr20:34085913 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7009-20G>A | single nucleotide variant | not provided [RCV002144302] | Chr20:35509978 [GRCh38] Chr20:34097807 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2163A>G (p.Glu721=) | single nucleotide variant | not provided [RCV002184506] | Chr20:35479299 [GRCh38] Chr20:34067124 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2755-16C>G | single nucleotide variant | not provided [RCV002121169] | Chr20:35491196 [GRCh38] Chr20:34079022 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.599+14G>T | single nucleotide variant | not provided [RCV002144657] | Chr20:35467086 [GRCh38] Chr20:34054911 [GRCh37] Chr20:20q11.22 |
likely benign |
NC_000020.10:g.(?_34021707)_(34067990_?)dup | duplication | not provided [RCV003109617] | Chr20:34021707..34067990 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5327G>A (p.Arg1776Gln) | single nucleotide variant | not provided [RCV003110329] | Chr20:35503696 [GRCh38] Chr20:34091524 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5919T>A (p.Ala1973=) | single nucleotide variant | not provided [RCV003116953] | Chr20:35504288 [GRCh38] Chr20:34092116 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5313C>T (p.Leu1771=) | single nucleotide variant | not provided [RCV003122045] | Chr20:35503682 [GRCh38] Chr20:34091510 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4128C>G (p.Ile1376Met) | single nucleotide variant | Inborn genetic diseases [RCV003300201] | Chr20:35502497 [GRCh38] Chr20:34090325 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6677G>A (p.Arg2226Gln) | single nucleotide variant | not provided [RCV002474122] | Chr20:35507778 [GRCh38] Chr20:34095607 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2889+7A>C | single nucleotide variant | not provided [RCV002614161] | Chr20:35491353 [GRCh38] Chr20:34079179 [GRCh37] Chr20:20q11.22 |
likely benign |
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 | copy number gain | not provided [RCV002474532] | Chr20:29833535..34815537 [GRCh37] Chr20:20q11.21-11.23 |
likely pathogenic |
NM_007186.6(CEP250):c.3208G>A (p.Val1070Ile) | single nucleotide variant | not provided [RCV002474116] | Chr20:35496617 [GRCh38] Chr20:34084446 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6060G>T (p.Arg2020Ser) | single nucleotide variant | not provided [RCV002296650] | Chr20:35504429 [GRCh38] Chr20:34092257 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6629G>A (p.Arg2210Lys) | single nucleotide variant | not provided [RCV002301731] | Chr20:35504998 [GRCh38] Chr20:34092826 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2423T>C (p.Val808Ala) | single nucleotide variant | not provided [RCV003012335] | Chr20:35479982 [GRCh38] Chr20:34067807 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2992A>G (p.Ser998Gly) | single nucleotide variant | not provided [RCV002903770] | Chr20:35493531 [GRCh38] Chr20:34081358 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6794A>G (p.Lys2265Arg) | single nucleotide variant | not provided [RCV002613636] | Chr20:35508078 [GRCh38] Chr20:34095907 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3275C>T (p.Ala1092Val) | single nucleotide variant | not provided [RCV002751527] | Chr20:35496684 [GRCh38] Chr20:34084513 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.244-4G>T | single nucleotide variant | not provided [RCV002755084] | Chr20:35465739 [GRCh38] Chr20:34053564 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.565C>T (p.Arg189Cys) | single nucleotide variant | not provided [RCV003095622] | Chr20:35467038 [GRCh38] Chr20:34054863 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6436C>T (p.Pro2146Ser) | single nucleotide variant | not provided [RCV002903640] | Chr20:35504805 [GRCh38] Chr20:34092633 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.492+7A>C | single nucleotide variant | not provided [RCV002858325] | Chr20:35466211 [GRCh38] Chr20:34054036 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.72G>T (p.Val24=) | single nucleotide variant | not provided [RCV002685435] | Chr20:35462439 [GRCh38] Chr20:34050264 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4301A>G (p.Glu1434Gly) | single nucleotide variant | Inborn genetic diseases [RCV002901052] | Chr20:35502670 [GRCh38] Chr20:34090498 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6637-9G>T | single nucleotide variant | not provided [RCV002862879] | Chr20:35507729 [GRCh38] Chr20:34095558 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5799A>C (p.Ala1933=) | single nucleotide variant | not provided [RCV002842663] | Chr20:35504168 [GRCh38] Chr20:34091996 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.186+16T>G | single nucleotide variant | not provided [RCV002755938] | Chr20:35462569 [GRCh38] Chr20:34050394 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4539C>T (p.Leu1513=) | single nucleotide variant | not provided [RCV002994782] | Chr20:35502908 [GRCh38] Chr20:34090736 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.504C>T (p.Gly168=) | single nucleotide variant | not provided [RCV002858502] | Chr20:35466977 [GRCh38] Chr20:34054802 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4545G>C (p.Lys1515Asn) | single nucleotide variant | not provided [RCV002690064] | Chr20:35502914 [GRCh38] Chr20:34090742 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4723C>T (p.Leu1575=) | single nucleotide variant | not provided [RCV002755715] | Chr20:35503092 [GRCh38] Chr20:34090920 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6636+13A>G | single nucleotide variant | not provided [RCV002614037] | Chr20:35505018 [GRCh38] Chr20:34092846 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5720A>G (p.Gln1907Arg) | single nucleotide variant | not provided [RCV002843845] | Chr20:35504089 [GRCh38] Chr20:34091917 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4872G>C (p.Glu1624Asp) | single nucleotide variant | not provided [RCV002614114] | Chr20:35503241 [GRCh38] Chr20:34091069 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3033+11C>T | single nucleotide variant | not provided [RCV002819941] | Chr20:35493583 [GRCh38] Chr20:34081410 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5865G>A (p.Gln1955=) | single nucleotide variant | not provided [RCV003035058] | Chr20:35504234 [GRCh38] Chr20:34092062 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3747T>C (p.His1249=) | single nucleotide variant | not provided [RCV002820075] | Chr20:35498686 [GRCh38] Chr20:34086515 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7008+17C>T | single nucleotide variant | not provided [RCV002996823] | Chr20:35509061 [GRCh38] Chr20:34096890 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1562G>A (p.Arg521Lys) | single nucleotide variant | Inborn genetic diseases [RCV002793749] | Chr20:35474043 [GRCh38] Chr20:34061868 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.468G>A (p.Glu156=) | single nucleotide variant | not provided [RCV002685896] | Chr20:35466180 [GRCh38] Chr20:34054005 [GRCh37] Chr20:20q11.22 |
likely benign |
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 | copy number gain | not provided [RCV002475651] | Chr20:29652122..35603726 [GRCh37] Chr20:20q11.21-11.23 |
likely pathogenic |
NM_007186.6(CEP250):c.1957A>T (p.Arg653Trp) | single nucleotide variant | not provided [RCV003014336] | Chr20:35477964 [GRCh38] Chr20:34065789 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1019C>T (p.Ser340Phe) | single nucleotide variant | not provided [RCV002907763] | Chr20:35472120 [GRCh38] Chr20:34059945 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.659G>C (p.Cys220Ser) | single nucleotide variant | not provided [RCV002838254] | Chr20:35467363 [GRCh38] Chr20:34055188 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2930A>G (p.Gln977Arg) | single nucleotide variant | not provided [RCV002991855] | Chr20:35493469 [GRCh38] Chr20:34081296 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.689G>A (p.Arg230Gln) | single nucleotide variant | not provided [RCV002905032] | Chr20:35467393 [GRCh38] Chr20:34055218 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.544C>A (p.Arg182=) | single nucleotide variant | not provided [RCV002751094] | Chr20:35467017 [GRCh38] Chr20:34054842 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6625C>T (p.Gln2209Ter) | single nucleotide variant | not provided [RCV002681700] | Chr20:35504994 [GRCh38] Chr20:34092822 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.3233G>A (p.Arg1078Gln) | single nucleotide variant | not provided [RCV002994331] | Chr20:35496642 [GRCh38] Chr20:34084471 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4208A>C (p.Gln1403Pro) | single nucleotide variant | not provided [RCV002726174] | Chr20:35502577 [GRCh38] Chr20:34090405 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6787A>G (p.Met2263Val) | single nucleotide variant | not provided [RCV003013573] | Chr20:35508071 [GRCh38] Chr20:34095900 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5918C>T (p.Ala1973Val) | single nucleotide variant | not provided [RCV002904509] | Chr20:35504287 [GRCh38] Chr20:34092115 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7008+9A>G | single nucleotide variant | not provided [RCV002842154] | Chr20:35509053 [GRCh38] Chr20:34096882 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6725G>T (p.Gly2242Val) | single nucleotide variant | not provided [RCV003099035] | Chr20:35507826 [GRCh38] Chr20:34095655 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3481A>G (p.Ser1161Gly) | single nucleotide variant | not provided [RCV003034628] | Chr20:35497893 [GRCh38] Chr20:34085722 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4253C>G (p.Ala1418Gly) | single nucleotide variant | not provided [RCV002690101] | Chr20:35502622 [GRCh38] Chr20:34090450 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3427T>C (p.Trp1143Arg) | single nucleotide variant | not provided [RCV002947679] | Chr20:35497839 [GRCh38] Chr20:34085668 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5913C>G (p.Gly1971=) | single nucleotide variant | not provided [RCV002613996] | Chr20:35504282 [GRCh38] Chr20:34092110 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4062A>T (p.Thr1354=) | single nucleotide variant | not provided [RCV002913061] | Chr20:35502431 [GRCh38] Chr20:34090259 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4017C>G (p.Ala1339=) | single nucleotide variant | not provided [RCV002797153] | Chr20:35501963 [GRCh38] Chr20:34089790 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5145C>G (p.Gly1715=) | single nucleotide variant | not provided [RCV003002046] | Chr20:35503514 [GRCh38] Chr20:34091342 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4113A>T (p.Ala1371=) | single nucleotide variant | not provided [RCV002663164] | Chr20:35502482 [GRCh38] Chr20:34090310 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6890G>A (p.Arg2297Gln) | single nucleotide variant | not provided [RCV002846389] | Chr20:35508174 [GRCh38] Chr20:34096003 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.918A>G (p.Ile306Met) | single nucleotide variant | not provided [RCV002639463] | Chr20:35469956 [GRCh38] Chr20:34057781 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.327-15C>A | single nucleotide variant | not provided [RCV002824973] | Chr20:35466024 [GRCh38] Chr20:34053849 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2098C>T (p.Arg700Cys) | single nucleotide variant | not provided [RCV003002700] | Chr20:35479234 [GRCh38] Chr20:34067059 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2793G>A (p.Leu931=) | single nucleotide variant | not provided [RCV002706533] | Chr20:35491250 [GRCh38] Chr20:34079076 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.916A>C (p.Ile306Leu) | single nucleotide variant | not provided [RCV002914502] | Chr20:35469954 [GRCh38] Chr20:34057779 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1458A>G (p.Ala486=) | single nucleotide variant | not provided [RCV003019006] | Chr20:35473939 [GRCh38] Chr20:34061764 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.829G>T (p.Glu277Ter) | single nucleotide variant | not provided [RCV002885179] | Chr20:35467533 [GRCh38] Chr20:34055358 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.5141A>C (p.Lys1714Thr) | single nucleotide variant | Inborn genetic diseases [RCV002823379] | Chr20:35503510 [GRCh38] Chr20:34091338 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.956A>G (p.Asn319Ser) | single nucleotide variant | not provided [RCV003039413] | Chr20:35472057 [GRCh38] Chr20:34059882 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3778-7T>C | single nucleotide variant | not provided [RCV003055504] | Chr20:35500042 [GRCh38] Chr20:34087871 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1729A>C (p.Ile577Leu) | single nucleotide variant | not provided [RCV002695992] | Chr20:35476461 [GRCh38] Chr20:34064286 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2680C>G (p.Gln894Glu) | single nucleotide variant | not provided [RCV002690762] | Chr20:35490730 [GRCh38] Chr20:34078556 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.228G>A (p.Arg76=) | single nucleotide variant | not provided [RCV002590514] | Chr20:35463616 [GRCh38] Chr20:34051441 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3730G>C (p.Ala1244Pro) | single nucleotide variant | not provided [RCV002953441] | Chr20:35498669 [GRCh38] Chr20:34086498 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.884C>T (p.Ser295Phe) | single nucleotide variant | not provided [RCV002572043] | Chr20:35469922 [GRCh38] Chr20:34057747 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2931A>G (p.Gln977=) | single nucleotide variant | not provided [RCV003019603] | Chr20:35493470 [GRCh38] Chr20:34081297 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7065+13T>A | single nucleotide variant | not provided [RCV002591019] | Chr20:35510067 [GRCh38] Chr20:34097896 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3700A>T (p.Thr1234Ser) | single nucleotide variant | not provided [RCV002820684] | Chr20:35498639 [GRCh38] Chr20:34086468 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1717-12T>G | single nucleotide variant | not provided [RCV003018679] | Chr20:35476437 [GRCh38] Chr20:34064262 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6750+18G>C | single nucleotide variant | not provided [RCV002923052] | Chr20:35507869 [GRCh38] Chr20:34095698 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1050+7G>A | single nucleotide variant | not provided [RCV002760388] | Chr20:35472158 [GRCh38] Chr20:34059983 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2687C>A (p.Thr896Lys) | single nucleotide variant | Inborn genetic diseases [RCV002869618] | Chr20:35490737 [GRCh38] Chr20:34078563 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6636+14T>C | single nucleotide variant | not provided [RCV003054236] | Chr20:35505019 [GRCh38] Chr20:34092847 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6304A>G (p.Thr2102Ala) | single nucleotide variant | Inborn genetic diseases [RCV002822130] | Chr20:35504673 [GRCh38] Chr20:34092501 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6009C>T (p.Ala2003=) | single nucleotide variant | not provided [RCV003019830] | Chr20:35504378 [GRCh38] Chr20:34092206 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1818G>C (p.Glu606Asp) | single nucleotide variant | not provided [RCV002760894] | Chr20:35476550 [GRCh38] Chr20:34064375 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4253C>T (p.Ala1418Val) | single nucleotide variant | not provided [RCV002690831] | Chr20:35502622 [GRCh38] Chr20:34090450 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4120G>A (p.Ala1374Thr) | single nucleotide variant | not provided [RCV003053677] | Chr20:35502489 [GRCh38] Chr20:34090317 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2587-14C>T | single nucleotide variant | not provided [RCV002979373] | Chr20:35490623 [GRCh38] Chr20:34078449 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.896A>G (p.Asn299Ser) | single nucleotide variant | not provided [RCV002735615] | Chr20:35469934 [GRCh38] Chr20:34057759 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.387G>A (p.Val129=) | single nucleotide variant | not provided [RCV002735619] | Chr20:35466099 [GRCh38] Chr20:34053924 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5997_5999del (p.Thr2000del) | deletion | not provided [RCV002796475] | Chr20:35504365..35504367 [GRCh38] Chr20:34092193..34092195 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2118C>T (p.Ala706=) | single nucleotide variant | not provided [RCV002923882] | Chr20:35479254 [GRCh38] Chr20:34067079 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.434G>A (p.Trp145Ter) | single nucleotide variant | not provided [RCV002659544] | Chr20:35466146 [GRCh38] Chr20:34053971 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.3912G>A (p.Trp1304Ter) | single nucleotide variant | not provided [RCV003020332] | Chr20:35501858 [GRCh38] Chr20:34089685 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.1887G>T (p.Val629=) | single nucleotide variant | not provided [RCV002913693] | Chr20:35477894 [GRCh38] Chr20:34065719 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7275A>G (p.Pro2425=) | single nucleotide variant | not provided [RCV003002533] | Chr20:35511572 [GRCh38] Chr20:34099401 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3034-15C>T | single nucleotide variant | not provided [RCV002953279] | Chr20:35494509 [GRCh38] Chr20:34082336 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5137G>A (p.Gly1713Arg) | single nucleotide variant | not provided [RCV002824506] | Chr20:35503506 [GRCh38] Chr20:34091334 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2754G>A (p.Gln918=) | single nucleotide variant | not provided [RCV003018720] | Chr20:35490804 [GRCh38] Chr20:34078630 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6962G>T (p.Gly2321Val) | single nucleotide variant | not provided [RCV002592769] | Chr20:35508998 [GRCh38] Chr20:34096827 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5896C>T (p.Leu1966=) | single nucleotide variant | not provided [RCV002797352] | Chr20:35504265 [GRCh38] Chr20:34092093 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2926G>T (p.Ala976Ser) | single nucleotide variant | Inborn genetic diseases [RCV002869012] | Chr20:35493465 [GRCh38] Chr20:34081292 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1571+3_1571+6del | deletion | not provided [RCV002695316] | Chr20:35474053..35474056 [GRCh38] Chr20:34061878..34061881 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6203G>A (p.Arg2068Lys) | single nucleotide variant | Inborn genetic diseases [RCV002868283] | Chr20:35504572 [GRCh38] Chr20:34092400 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1074T>C (p.Asn358=) | single nucleotide variant | not provided [RCV002705883] | Chr20:35472696 [GRCh38] Chr20:34060521 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1209+1G>A | single nucleotide variant | not provided [RCV003020244] | Chr20:35472832 [GRCh38] Chr20:34060657 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_007186.6(CEP250):c.6920G>T (p.Arg2307Leu) | single nucleotide variant | not provided [RCV002843919] | Chr20:35508956 [GRCh38] Chr20:34096785 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3178_3179del (p.Ser1060fs) | microsatellite | not provided [RCV002913263] | Chr20:35496582..35496583 [GRCh38] Chr20:34084414..34084415 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.2564dup (p.Asn856fs) | duplication | not provided [RCV002923027] | Chr20:35480122..35480123 [GRCh38] Chr20:34067947..34067948 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.4948A>C (p.Thr1650Pro) | single nucleotide variant | not provided [RCV003020938] | Chr20:35503317 [GRCh38] Chr20:34091145 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6769G>A (p.Glu2257Lys) | single nucleotide variant | not provided [RCV002705725] | Chr20:35508053 [GRCh38] Chr20:34095882 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2654_2675del (p.Met885fs) | deletion | not provided [RCV002590428] | Chr20:35490701..35490722 [GRCh38] Chr20:34078527..34078548 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.6829C>T (p.Gln2277Ter) | single nucleotide variant | not provided [RCV002695026] | Chr20:35508113 [GRCh38] Chr20:34095942 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.3034-14C>T | single nucleotide variant | not provided [RCV002622669] | Chr20:35494510 [GRCh38] Chr20:34082337 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4021-9G>A | single nucleotide variant | not provided [RCV002658655] | Chr20:35502381 [GRCh38] Chr20:34090209 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3944T>A (p.Leu1315Gln) | single nucleotide variant | not provided [RCV003020968] | Chr20:35501890 [GRCh38] Chr20:34089717 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6394T>A (p.Ser2132Thr) | single nucleotide variant | not provided [RCV002639855] | Chr20:35504763 [GRCh38] Chr20:34092591 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.369C>T (p.His123=) | single nucleotide variant | not provided [RCV003037400] | Chr20:35466081 [GRCh38] Chr20:34053906 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.738G>C (p.Leu246=) | single nucleotide variant | not provided [RCV002847832] | Chr20:35467442 [GRCh38] Chr20:34055267 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4944T>G (p.His1648Gln) | single nucleotide variant | not provided [RCV002824840] | Chr20:35503313 [GRCh38] Chr20:34091141 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6111G>A (p.Val2037=) | single nucleotide variant | not provided [RCV003055054] | Chr20:35504480 [GRCh38] Chr20:34092308 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6949G>A (p.Ala2317Thr) | single nucleotide variant | not provided [RCV002824143] | Chr20:35508985 [GRCh38] Chr20:34096814 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2055C>G (p.Ile685Met) | single nucleotide variant | not provided [RCV002886234] | Chr20:35478062 [GRCh38] Chr20:34065887 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3544C>G (p.Leu1182Val) | single nucleotide variant | not provided [RCV002621615] | Chr20:35497956 [GRCh38] Chr20:34085785 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1329G>A (p.Glu443=) | single nucleotide variant | not provided [RCV002824576] | Chr20:35473493 [GRCh38] Chr20:34061318 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1344A>T (p.Ala448=) | single nucleotide variant | not provided [RCV002706532] | Chr20:35473508 [GRCh38] Chr20:34061333 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5382G>A (p.Gly1794=) | single nucleotide variant | not provided [RCV002846369] | Chr20:35503751 [GRCh38] Chr20:34091579 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6186G>A (p.Glu2062=) | single nucleotide variant | not provided [RCV003054614] | Chr20:35504555 [GRCh38] Chr20:34092383 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.795G>A (p.Gln265=) | single nucleotide variant | not provided [RCV003035339] | Chr20:35467499 [GRCh38] Chr20:34055324 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2828A>G (p.Asp943Gly) | single nucleotide variant | not provided [RCV002694785] | Chr20:35491285 [GRCh38] Chr20:34079111 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.898G>C (p.Glu300Gln) | single nucleotide variant | not provided [RCV002795993] | Chr20:35469936 [GRCh38] Chr20:34057761 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.513A>G (p.Lys171=) | single nucleotide variant | not provided [RCV002828747] | Chr20:35466986 [GRCh38] Chr20:34054811 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4716G>A (p.Gln1572=) | single nucleotide variant | not provided [RCV002876637] | Chr20:35503085 [GRCh38] Chr20:34090913 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5477A>G (p.Gln1826Arg) | single nucleotide variant | not provided [RCV002914726] | Chr20:35503846 [GRCh38] Chr20:34091674 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1392G>A (p.Glu464=) | single nucleotide variant | not provided [RCV002852913] | Chr20:35473873 [GRCh38] Chr20:34061698 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4021-10T>C | single nucleotide variant | not provided [RCV002853437] | Chr20:35502380 [GRCh38] Chr20:34090208 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.256C>G (p.Gln86Glu) | single nucleotide variant | not provided [RCV003026194] | Chr20:35465755 [GRCh38] Chr20:34053580 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1320C>T (p.Leu440=) | single nucleotide variant | not provided [RCV002700777] | Chr20:35473484 [GRCh38] Chr20:34061309 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3060G>C (p.Val1020=) | single nucleotide variant | not provided [RCV002626772] | Chr20:35494550 [GRCh38] Chr20:34082377 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6128C>T (p.Ala2043Val) | single nucleotide variant | not provided [RCV002645793] | Chr20:35504497 [GRCh38] Chr20:34092325 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4291G>C (p.Ala1431Pro) | single nucleotide variant | not provided [RCV002701392] | Chr20:35502660 [GRCh38] Chr20:34090488 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3167+15C>A | single nucleotide variant | not provided [RCV002572530] | Chr20:35494672 [GRCh38] Chr20:34082499 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2113G>T (p.Ala705Ser) | single nucleotide variant | not provided [RCV003022973] | Chr20:35479249 [GRCh38] Chr20:34067074 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6479G>C (p.Arg2160Thr) | single nucleotide variant | not provided [RCV002701446] | Chr20:35504848 [GRCh38] Chr20:34092676 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4486G>A (p.Val1496Ile) | single nucleotide variant | not provided [RCV002593895] | Chr20:35502855 [GRCh38] Chr20:34090683 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4193A>G (p.Glu1398Gly) | single nucleotide variant | not provided [RCV002700357] | Chr20:35502562 [GRCh38] Chr20:34090390 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1210-4A>C | single nucleotide variant | not provided [RCV002667782] | Chr20:35473370 [GRCh38] Chr20:34061195 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5370C>G (p.Ala1790=) | single nucleotide variant | not provided [RCV002852645] | Chr20:35503739 [GRCh38] Chr20:34091567 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2206C>T (p.Arg736Ter) | single nucleotide variant | not provided [RCV002626004] | Chr20:35479342 [GRCh38] Chr20:34067167 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.1193G>A (p.Arg398Lys) | single nucleotide variant | not provided [RCV003059621] | Chr20:35472815 [GRCh38] Chr20:34060640 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.948+7G>A | single nucleotide variant | not provided [RCV002871955] | Chr20:35469993 [GRCh38] Chr20:34057818 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2095T>A (p.Ser699Thr) | single nucleotide variant | Inborn genetic diseases [RCV002874568] | Chr20:35479231 [GRCh38] Chr20:34067056 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3624C>G (p.Asp1208Glu) | single nucleotide variant | Inborn genetic diseases [RCV002788699] | Chr20:35498036 [GRCh38] Chr20:34085865 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4140C>T (p.Asp1380=) | single nucleotide variant | not provided [RCV003040465] | Chr20:35502509 [GRCh38] Chr20:34090337 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5969T>A (p.Leu1990Ter) | single nucleotide variant | not provided [RCV002829142] | Chr20:35504338 [GRCh38] Chr20:34092166 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.1165A>G (p.Thr389Ala) | single nucleotide variant | Inborn genetic diseases [RCV002802940] | Chr20:35472787 [GRCh38] Chr20:34060612 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3278A>G (p.Gln1093Arg) | single nucleotide variant | not provided [RCV002711458] | Chr20:35496687 [GRCh38] Chr20:34084516 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2094+16G>A | single nucleotide variant | not provided [RCV002851477] | Chr20:35478117 [GRCh38] Chr20:34065942 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1467G>A (p.Leu489=) | single nucleotide variant | not provided [RCV002852063] | Chr20:35473948 [GRCh38] Chr20:34061773 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.913A>T (p.Met305Leu) | single nucleotide variant | not provided [RCV002786375] | Chr20:35469951 [GRCh38] Chr20:34057776 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.51G>C (p.Gln17His) | single nucleotide variant | not provided [RCV003005944] | Chr20:35462418 [GRCh38] Chr20:34050243 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7161G>A (p.Leu2387=) | single nucleotide variant | not provided [RCV002643262] | Chr20:35511458 [GRCh38] Chr20:34099287 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5238T>C (p.His1746=) | single nucleotide variant | not provided [RCV002828260] | Chr20:35503607 [GRCh38] Chr20:34091435 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6095G>A (p.Arg2032Gln) | single nucleotide variant | not provided [RCV003082343] | Chr20:35504464 [GRCh38] Chr20:34092292 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3899-19C>T | single nucleotide variant | not provided [RCV002593536] | Chr20:35501826 [GRCh38] Chr20:34089655 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7114G>C (p.Asp2372His) | single nucleotide variant | Inborn genetic diseases [RCV002578634]|not provided [RCV002597102] | Chr20:35511411 [GRCh38] Chr20:34099240 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4174A>G (p.Asn1392Asp) | single nucleotide variant | not provided [RCV002642921] | Chr20:35502543 [GRCh38] Chr20:34090371 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4700A>T (p.His1567Leu) | single nucleotide variant | not provided [RCV002643355] | Chr20:35503069 [GRCh38] Chr20:34090897 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4500G>A (p.Glu1500=) | single nucleotide variant | not provided [RCV002890563] | Chr20:35502869 [GRCh38] Chr20:34090697 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3710C>T (p.Ser1237Phe) | single nucleotide variant | not provided [RCV003023517] | Chr20:35498649 [GRCh38] Chr20:34086478 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1572-17T>G | single nucleotide variant | not provided [RCV002710952] | Chr20:35475485 [GRCh38] Chr20:34063310 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3366A>G (p.Ala1122=) | single nucleotide variant | not provided [RCV002700555] | Chr20:35497778 [GRCh38] Chr20:34085607 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5375A>G (p.Glu1792Gly) | single nucleotide variant | not provided [RCV002801766] | Chr20:35503744 [GRCh38] Chr20:34091572 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3948G>A (p.Met1316Ile) | single nucleotide variant | not provided [RCV002710517] | Chr20:35501894 [GRCh38] Chr20:34089721 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1423C>T (p.Leu475=) | single nucleotide variant | not provided [RCV002663646] | Chr20:35473904 [GRCh38] Chr20:34061729 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.55G>C (p.Val19Leu) | single nucleotide variant | Inborn genetic diseases [RCV002768278] | Chr20:35462422 [GRCh38] Chr20:34050247 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3880C>T (p.Leu1294Phe) | single nucleotide variant | not provided [RCV002642351] | Chr20:35500151 [GRCh38] Chr20:34087980 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4489del (p.Gln1497fs) | deletion | not provided [RCV002958663] | Chr20:35502857 [GRCh38] Chr20:34090685 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.3232C>A (p.Arg1078=) | single nucleotide variant | not provided [RCV002828351] | Chr20:35496641 [GRCh38] Chr20:34084470 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3656-15T>C | single nucleotide variant | not provided [RCV002594475] | Chr20:35498580 [GRCh38] Chr20:34086409 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3458A>C (p.Gln1153Pro) | single nucleotide variant | not provided [RCV002745594] | Chr20:35497870 [GRCh38] Chr20:34085699 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4899G>A (p.Lys1633=) | single nucleotide variant | not provided [RCV002626816] | Chr20:35503268 [GRCh38] Chr20:34091096 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3022C>T (p.Leu1008=) | single nucleotide variant | not provided [RCV002643316] | Chr20:35493561 [GRCh38] Chr20:34081388 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4876C>T (p.Gln1626Ter) | single nucleotide variant | not provided [RCV002872321] | Chr20:35503245 [GRCh38] Chr20:34091073 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.6078C>T (p.Ile2026=) | single nucleotide variant | not provided [RCV003023360] | Chr20:35504447 [GRCh38] Chr20:34092275 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3966G>A (p.Met1322Ile) | single nucleotide variant | not provided [RCV002573668] | Chr20:35501912 [GRCh38] Chr20:34089739 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4153C>T (p.Arg1385Cys) | single nucleotide variant | not provided [RCV002853261] | Chr20:35502522 [GRCh38] Chr20:34090350 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7066-17T>A | single nucleotide variant | not provided [RCV003039896] | Chr20:35511346 [GRCh38] Chr20:34099175 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2199C>T (p.Ala733=) | single nucleotide variant | not provided [RCV002851463] | Chr20:35479335 [GRCh38] Chr20:34067160 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3557A>G (p.Tyr1186Cys) | single nucleotide variant | not provided [RCV002667315] | Chr20:35497969 [GRCh38] Chr20:34085798 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6986C>T (p.Thr2329Met) | single nucleotide variant | not provided [RCV002700586] | Chr20:35509022 [GRCh38] Chr20:34096851 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2902A>T (p.Ile968Leu) | single nucleotide variant | not provided [RCV002573819] | Chr20:35493441 [GRCh38] Chr20:34081268 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4815G>A (p.Gln1605=) | single nucleotide variant | not provided [RCV002575799] | Chr20:35503184 [GRCh38] Chr20:34091012 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5413C>G (p.Leu1805Val) | single nucleotide variant | not provided [RCV002626387] | Chr20:35503782 [GRCh38] Chr20:34091610 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6726G>A (p.Gly2242=) | single nucleotide variant | not provided [RCV002626738] | Chr20:35507827 [GRCh38] Chr20:34095656 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2751C>T (p.Cys917=) | single nucleotide variant | not provided [RCV002711464] | Chr20:35490801 [GRCh38] Chr20:34078627 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1381C>T (p.Leu461Phe) | single nucleotide variant | Inborn genetic diseases [RCV002804412] | Chr20:35473545 [GRCh38] Chr20:34061370 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2289-7del | deletion | not provided [RCV002593535] | Chr20:35479638 [GRCh38] Chr20:34067463 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5034C>T (p.Thr1678=) | single nucleotide variant | not provided [RCV002953924] | Chr20:35503403 [GRCh38] Chr20:34091231 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2347A>G (p.Ile783Val) | single nucleotide variant | not provided [RCV002807066] | Chr20:35479704 [GRCh38] Chr20:34067529 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.699C>T (p.Asn233=) | single nucleotide variant | not provided [RCV002631025] | Chr20:35467403 [GRCh38] Chr20:34055228 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2736A>G (p.Ala912=) | single nucleotide variant | not provided [RCV003031793] | Chr20:35490786 [GRCh38] Chr20:34078612 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7051G>A (p.Glu2351Lys) | single nucleotide variant | not provided [RCV002576666] | Chr20:35510040 [GRCh38] Chr20:34097869 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4021-17T>A | single nucleotide variant | not provided [RCV003031968] | Chr20:35502373 [GRCh38] Chr20:34090201 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3905C>T (p.Ser1302Phe) | single nucleotide variant | not provided [RCV002676286] | Chr20:35501851 [GRCh38] Chr20:34089678 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.599+10G>A | single nucleotide variant | not provided [RCV002650817] | Chr20:35467082 [GRCh38] Chr20:34054907 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.195G>A (p.Gln65=) | single nucleotide variant | not provided [RCV002900255] | Chr20:35463583 [GRCh38] Chr20:34051408 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3306+5T>C | single nucleotide variant | not provided [RCV003065865] | Chr20:35496720 [GRCh38] Chr20:34084549 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1133A>C (p.Gln378Pro) | single nucleotide variant | not provided [RCV002967324] | Chr20:35472755 [GRCh38] Chr20:34060580 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4981A>G (p.Met1661Val) | single nucleotide variant | not provided [RCV003092131] | Chr20:35503350 [GRCh38] Chr20:34091178 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3133C>T (p.Arg1045Ter) | single nucleotide variant | not provided [RCV002938915] | Chr20:35494623 [GRCh38] Chr20:34082450 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.1175G>A (p.Arg392His) | single nucleotide variant | not provided [RCV002631452] | Chr20:35472797 [GRCh38] Chr20:34060622 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5014G>A (p.Asp1672Asn) | single nucleotide variant | Inborn genetic diseases [RCV002746925] | Chr20:35503383 [GRCh38] Chr20:34091211 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1824G>C (p.Leu608Phe) | single nucleotide variant | not provided [RCV002715772] | Chr20:35476556 [GRCh38] Chr20:34064381 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6906+8C>A | single nucleotide variant | not provided [RCV002581247] | Chr20:35508198 [GRCh38] Chr20:34096027 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.366G>A (p.Leu122=) | single nucleotide variant | not provided [RCV002646340] | Chr20:35466078 [GRCh38] Chr20:34053903 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2283G>A (p.Gly761=) | single nucleotide variant | not provided [RCV003049173] | Chr20:35479419 [GRCh38] Chr20:34067244 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.977A>C (p.His326Pro) | single nucleotide variant | not provided [RCV002676213] | Chr20:35472078 [GRCh38] Chr20:34059903 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7065+11del | deletion | not provided [RCV003089819] | Chr20:35510064 [GRCh38] Chr20:34097893 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4495C>T (p.Arg1499Ter) | single nucleotide variant | not provided [RCV002671752] | Chr20:35502864 [GRCh38] Chr20:34090692 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.6376C>A (p.Pro2126Thr) | single nucleotide variant | not provided [RCV003026830] | Chr20:35504745 [GRCh38] Chr20:34092573 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1692G>A (p.Thr564=) | single nucleotide variant | not provided [RCV002600430] | Chr20:35475622 [GRCh38] Chr20:34063447 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.882G>A (p.Gln294=) | single nucleotide variant | not provided [RCV002746089] | Chr20:35469920 [GRCh38] Chr20:34057745 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.243+12T>C | single nucleotide variant | not provided [RCV002577457] | Chr20:35463643 [GRCh38] Chr20:34051468 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5163C>T (p.Arg1721=) | single nucleotide variant | not provided [RCV002577039] | Chr20:35503532 [GRCh38] Chr20:34091360 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4941G>C (p.Glu1647Asp) | single nucleotide variant | not provided [RCV002937774] | Chr20:35503310 [GRCh38] Chr20:34091138 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3073T>C (p.Ser1025Pro) | single nucleotide variant | not provided [RCV002577976] | Chr20:35494563 [GRCh38] Chr20:34082390 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4087G>A (p.Ala1363Thr) | single nucleotide variant | not provided [RCV002962353] | Chr20:35502456 [GRCh38] Chr20:34090284 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6636+15G>A | single nucleotide variant | not provided [RCV002671616] | Chr20:35505020 [GRCh38] Chr20:34092848 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3123G>A (p.Gln1041=) | single nucleotide variant | not provided [RCV002646017] | Chr20:35494613 [GRCh38] Chr20:34082440 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1627A>T (p.Ile543Phe) | single nucleotide variant | not provided [RCV002670782] | Chr20:35475557 [GRCh38] Chr20:34063382 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.596A>G (p.Asp199Gly) | single nucleotide variant | not provided [RCV003044197] | Chr20:35467069 [GRCh38] Chr20:34054894 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3849C>T (p.Val1283=) | single nucleotide variant | not provided [RCV003010015] | Chr20:35500120 [GRCh38] Chr20:34087949 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4180G>C (p.Glu1394Gln) | single nucleotide variant | not provided [RCV003062014] | Chr20:35502549 [GRCh38] Chr20:34090377 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2512del (p.Gln838fs) | deletion | not provided [RCV002577307] | Chr20:35480071 [GRCh38] Chr20:34067896 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.628G>C (p.Val210Leu) | single nucleotide variant | not provided [RCV002856121] | Chr20:35467332 [GRCh38] Chr20:34055157 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2971C>T (p.Leu991Phe) | single nucleotide variant | not provided [RCV002627911] | Chr20:35493510 [GRCh38] Chr20:34081337 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4228G>A (p.Glu1410Lys) | single nucleotide variant | not provided [RCV003062431] | Chr20:35502597 [GRCh38] Chr20:34090425 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1863+18T>C | single nucleotide variant | not provided [RCV003047274] | Chr20:35476613 [GRCh38] Chr20:34064438 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6118C>G (p.Leu2040Val) | single nucleotide variant | not provided [RCV003029069] | Chr20:35504487 [GRCh38] Chr20:34092315 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1717-16_1717-15insA | insertion | not provided [RCV002601605] | Chr20:35476433..35476434 [GRCh38] Chr20:34064258..34064259 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1342G>A (p.Ala448Thr) | single nucleotide variant | not provided [RCV002895827] | Chr20:35473506 [GRCh38] Chr20:34061331 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5431G>A (p.Ala1811Thr) | single nucleotide variant | not provided [RCV002631512] | Chr20:35503800 [GRCh38] Chr20:34091628 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5415G>A (p.Leu1805=) | single nucleotide variant | not provided [RCV002581263] | Chr20:35503784 [GRCh38] Chr20:34091612 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5014G>C (p.Asp1672His) | single nucleotide variant | not provided [RCV003045414] | Chr20:35503383 [GRCh38] Chr20:34091211 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.600-16C>T | single nucleotide variant | not provided [RCV002835129] | Chr20:35467288 [GRCh38] Chr20:34055113 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6041A>C (p.Gln2014Pro) | single nucleotide variant | not provided [RCV002627554] | Chr20:35504410 [GRCh38] Chr20:34092238 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7295C>T (p.Pro2432Leu) | single nucleotide variant | not provided [RCV002933670] | Chr20:35511592 [GRCh38] Chr20:34099421 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4449G>A (p.Glu1483=) | single nucleotide variant | not provided [RCV002650479] | Chr20:35502818 [GRCh38] Chr20:34090646 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4078C>G (p.Leu1360Val) | single nucleotide variant | not provided [RCV002649306] | Chr20:35502447 [GRCh38] Chr20:34090275 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.106G>A (p.Ala36Thr) | single nucleotide variant | not provided [RCV002810608] | Chr20:35462473 [GRCh38] Chr20:34050298 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4834C>T (p.His1612Tyr) | single nucleotide variant | not provided [RCV002833948] | Chr20:35503203 [GRCh38] Chr20:34091031 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3778-13C>T | single nucleotide variant | not provided [RCV002716370] | Chr20:35500036 [GRCh38] Chr20:34087865 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.385G>A (p.Val129Met) | single nucleotide variant | not provided [RCV003029318] | Chr20:35466097 [GRCh38] Chr20:34053922 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3773_3777del (p.Thr1258fs) | deletion | not provided [RCV003030222] | Chr20:35498712..35498716 [GRCh38] Chr20:34086541..34086545 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.5524G>A (p.Ala1842Thr) | single nucleotide variant | not provided [RCV002580724] | Chr20:35503893 [GRCh38] Chr20:34091721 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1051-20C>G | single nucleotide variant | not provided [RCV002650280] | Chr20:35472653 [GRCh38] Chr20:34060478 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6907-2A>G | single nucleotide variant | not provided [RCV003047711] | Chr20:35508941 [GRCh38] Chr20:34096770 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_007186.6(CEP250):c.7009-4T>G | single nucleotide variant | not provided [RCV002675593] | Chr20:35509994 [GRCh38] Chr20:34097823 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5531A>G (p.Gln1844Arg) | single nucleotide variant | not provided [RCV002597693] | Chr20:35503900 [GRCh38] Chr20:34091728 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5544G>A (p.Glu1848=) | single nucleotide variant | not provided [RCV003046396] | Chr20:35503913 [GRCh38] Chr20:34091741 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5172A>G (p.Leu1724=) | single nucleotide variant | not provided [RCV003045975] | Chr20:35503541 [GRCh38] Chr20:34091369 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2849G>A (p.Arg950Gln) | single nucleotide variant | not provided [RCV002600887] | Chr20:35491306 [GRCh38] Chr20:34079132 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1993G>A (p.Glu665Lys) | single nucleotide variant | not provided [RCV003026859] | Chr20:35478000 [GRCh38] Chr20:34065825 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2889+17C>T | single nucleotide variant | not provided [RCV002649558] | Chr20:35491363 [GRCh38] Chr20:34079189 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.90G>C (p.Gln30His) | single nucleotide variant | not provided [RCV002832825] | Chr20:35462457 [GRCh38] Chr20:34050282 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.937G>C (p.Val313Leu) | single nucleotide variant | not provided [RCV003045350] | Chr20:35469975 [GRCh38] Chr20:34057800 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7008+19dup | duplication | not provided [RCV003027904] | Chr20:35509062..35509063 [GRCh38] Chr20:34096891..34096892 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.601G>T (p.Asp201Tyr) | single nucleotide variant | not provided [RCV003030350] | Chr20:35467305 [GRCh38] Chr20:34055130 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7033G>A (p.Asp2345Asn) | single nucleotide variant | not provided [RCV002714998] | Chr20:35510022 [GRCh38] Chr20:34097851 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4241C>T (p.Ala1414Val) | single nucleotide variant | Inborn genetic diseases [RCV002934997] | Chr20:35502610 [GRCh38] Chr20:34090438 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5513A>G (p.Glu1838Gly) | single nucleotide variant | not provided [RCV002811788] | Chr20:35503882 [GRCh38] Chr20:34091710 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1691C>A (p.Thr564Lys) | single nucleotide variant | not provided [RCV002597734] | Chr20:35475621 [GRCh38] Chr20:34063446 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5314C>T (p.Leu1772Phe) | single nucleotide variant | not provided [RCV002650491] | Chr20:35503683 [GRCh38] Chr20:34091511 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7099C>T (p.Arg2367Trp) | single nucleotide variant | not provided [RCV002632032] | Chr20:35511396 [GRCh38] Chr20:34099225 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4475T>G (p.Leu1492Arg) | single nucleotide variant | not provided [RCV003027465] | Chr20:35502844 [GRCh38] Chr20:34090672 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1661T>C (p.Leu554Pro) | single nucleotide variant | not provided [RCV002600790] | Chr20:35475591 [GRCh38] Chr20:34063416 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1863+3G>T | single nucleotide variant | not provided [RCV003091689] | Chr20:35476598 [GRCh38] Chr20:34064423 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6425A>G (p.Asp2142Gly) | single nucleotide variant | not provided [RCV002834420] | Chr20:35504794 [GRCh38] Chr20:34092622 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5105dup (p.Arg1703fs) | duplication | not provided [RCV003031140] | Chr20:35503473..35503474 [GRCh38] Chr20:34091301..34091302 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.492+7A>G | single nucleotide variant | not provided [RCV003045924] | Chr20:35466211 [GRCh38] Chr20:34054036 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1717-15C>T | single nucleotide variant | not provided [RCV002601606] | Chr20:35476434 [GRCh38] Chr20:34064259 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5849A>T (p.Gln1950Leu) | single nucleotide variant | not provided [RCV002966592] | Chr20:35504218 [GRCh38] Chr20:34092046 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2421A>G (p.Glu807=) | single nucleotide variant | not provided [RCV002633738] | Chr20:35479980 [GRCh38] Chr20:34067805 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2654T>C (p.Met885Thr) | single nucleotide variant | not provided [RCV003050188] | Chr20:35490704 [GRCh38] Chr20:34078530 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3916G>A (p.Gly1306Arg) | single nucleotide variant | not provided [RCV003049758] | Chr20:35501862 [GRCh38] Chr20:34089689 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1585A>G (p.Met529Val) | single nucleotide variant | not provided [RCV002653981] | Chr20:35475515 [GRCh38] Chr20:34063340 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4251G>A (p.Lys1417=) | single nucleotide variant | not provided [RCV002604307] | Chr20:35502620 [GRCh38] Chr20:34090448 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5064C>T (p.Ile1688=) | single nucleotide variant | not provided [RCV002583687] | Chr20:35503433 [GRCh38] Chr20:34091261 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6094C>T (p.Arg2032Ter) | single nucleotide variant | not provided [RCV002605011] | Chr20:35504463 [GRCh38] Chr20:34092291 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.2239G>T (p.Ala747Ser) | single nucleotide variant | not provided [RCV003052375] | Chr20:35479375 [GRCh38] Chr20:34067200 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1702G>A (p.Ala568Thr) | single nucleotide variant | Inborn genetic diseases [RCV002657520] | Chr20:35475632 [GRCh38] Chr20:34063457 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5370del (p.Arg1791fs) | deletion | not provided [RCV002944089] | Chr20:35503738 [GRCh38] Chr20:34091566 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.6659G>A (p.Arg2220Gln) | single nucleotide variant | not provided [RCV002604902] | Chr20:35507760 [GRCh38] Chr20:34095589 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.849C>T (p.Asp283=) | single nucleotide variant | not provided [RCV002725785] | Chr20:35467553 [GRCh38] Chr20:34055378 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5417A>G (p.Asp1806Gly) | single nucleotide variant | not provided [RCV003052492] | Chr20:35503786 [GRCh38] Chr20:34091614 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.30C>A (p.Asn10Lys) | single nucleotide variant | not provided [RCV002653870] | Chr20:35462397 [GRCh38] Chr20:34050222 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3656-1G>A | single nucleotide variant | not provided [RCV003129445] | Chr20:35498594 [GRCh38] Chr20:34086423 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.5771T>C (p.Leu1924Pro) | single nucleotide variant | not provided [RCV002653376] | Chr20:35504140 [GRCh38] Chr20:34091968 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3774C>G (p.Thr1258=) | single nucleotide variant | not provided [RCV002814780] | Chr20:35498713 [GRCh38] Chr20:34086542 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.6354A>G (p.Gln2118=) | single nucleotide variant | not provided [RCV002604833] | Chr20:35504723 [GRCh38] Chr20:34092551 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1242G>A (p.Glu414=) | single nucleotide variant | not provided [RCV002680942] | Chr20:35473406 [GRCh38] Chr20:34061231 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.526C>T (p.Arg176Cys) | single nucleotide variant | not provided [RCV002605479] | Chr20:35466999 [GRCh38] Chr20:34054824 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.548A>T (p.Glu183Val) | single nucleotide variant | not provided [RCV002605481] | Chr20:35467021 [GRCh38] Chr20:34054846 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.186+18T>C | single nucleotide variant | not provided [RCV002609159] | Chr20:35462571 [GRCh38] Chr20:34050396 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7296del (p.Ser2433fs) | deletion | not provided [RCV002609428] | Chr20:35511590 [GRCh38] Chr20:34099419 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1307G>A (p.Arg436Gln) | single nucleotide variant | not provided [RCV002606553] | Chr20:35473471 [GRCh38] Chr20:34061296 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6397C>G (p.Pro2133Ala) | single nucleotide variant | not provided [RCV003072736] | Chr20:35504766 [GRCh38] Chr20:34092594 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.303C>T (p.Val101=) | single nucleotide variant | not provided [RCV003050451] | Chr20:35465802 [GRCh38] Chr20:34053627 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.492+11C>T | single nucleotide variant | not provided [RCV002608518] | Chr20:35466215 [GRCh38] Chr20:34054040 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3476C>G (p.Thr1159Arg) | single nucleotide variant | not provided [RCV002589506] | Chr20:35497888 [GRCh38] Chr20:34085717 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4476G>A (p.Leu1492=) | single nucleotide variant | not provided [RCV003052540] | Chr20:35502845 [GRCh38] Chr20:34090673 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3688G>A (p.Gly1230Arg) | single nucleotide variant | not provided [RCV002610170] | Chr20:35498627 [GRCh38] Chr20:34086456 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6444G>T (p.Leu2148=) | single nucleotide variant | not provided [RCV002604160] | Chr20:35504813 [GRCh38] Chr20:34092641 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4550G>A (p.Arg1517Gln) | single nucleotide variant | not provided [RCV002607966] | Chr20:35502919 [GRCh38] Chr20:34090747 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4858G>A (p.Val1620Ile) | single nucleotide variant | not provided [RCV003073449] | Chr20:35503227 [GRCh38] Chr20:34091055 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2259G>A (p.Gln753=) | single nucleotide variant | not provided [RCV002722020] | Chr20:35479395 [GRCh38] Chr20:34067220 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2288+13C>T | single nucleotide variant | not provided [RCV002658172] | Chr20:35479437 [GRCh38] Chr20:34067262 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1841G>T (p.Gly614Val) | single nucleotide variant | not provided [RCV002942313] | Chr20:35476573 [GRCh38] Chr20:34064398 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.7328A>C (p.Ter2443Ser) | single nucleotide variant | not provided [RCV003049706] | Chr20:35511625 [GRCh38] Chr20:34099454 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2731C>G (p.Gln911Glu) | single nucleotide variant | not provided [RCV002721592] | Chr20:35490781 [GRCh38] Chr20:34078607 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6184G>C (p.Glu2062Gln) | single nucleotide variant | not provided [RCV002608990] | Chr20:35504553 [GRCh38] Chr20:34092381 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5877C>T (p.Ala1959=) | single nucleotide variant | not provided [RCV002609026] | Chr20:35504246 [GRCh38] Chr20:34092074 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5312T>G (p.Leu1771Arg) | single nucleotide variant | Inborn genetic diseases [RCV002943607]|not provided [RCV002943608] | Chr20:35503681 [GRCh38] Chr20:34091509 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3580G>C (p.Gly1194Arg) | single nucleotide variant | not provided [RCV002582591] | Chr20:35497992 [GRCh38] Chr20:34085821 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1427G>A (p.Arg476Gln) | single nucleotide variant | not provided [RCV002609483] | Chr20:35473908 [GRCh38] Chr20:34061733 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.199C>T (p.Arg67Ter) | single nucleotide variant | not provided [RCV002653414] | Chr20:35463587 [GRCh38] Chr20:34051412 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.4486G>T (p.Val1496Phe) | single nucleotide variant | not provided [RCV002584096] | Chr20:35502855 [GRCh38] Chr20:34090683 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3202C>A (p.Leu1068Ile) | single nucleotide variant | not provided [RCV002680994] | Chr20:35496611 [GRCh38] Chr20:34084440 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6987G>A (p.Thr2329=) | single nucleotide variant | not provided [RCV002583039] | Chr20:35509023 [GRCh38] Chr20:34096852 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.255C>A (p.Pro85=) | single nucleotide variant | not provided [RCV002605086] | Chr20:35465754 [GRCh38] Chr20:34053579 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.362G>A (p.Arg121Gln) | single nucleotide variant | not provided [RCV002589634] | Chr20:35466074 [GRCh38] Chr20:34053899 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1050+18G>A | single nucleotide variant | not provided [RCV002653686] | Chr20:35472169 [GRCh38] Chr20:34059994 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1437G>A (p.Leu479=) | single nucleotide variant | not provided [RCV002587752] | Chr20:35473918 [GRCh38] Chr20:34061743 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.241G>A (p.Gly81Arg) | single nucleotide variant | Inborn genetic diseases [RCV003201251] | Chr20:35463629 [GRCh38] Chr20:34051454 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.6827A>G (p.Gln2276Arg) | single nucleotide variant | Inborn genetic diseases [RCV003202230] | Chr20:35508111 [GRCh38] Chr20:34095940 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4447del (p.Glu1483fs) | deletion | not provided [RCV003568923] | Chr20:35502816 [GRCh38] Chr20:34090644 [GRCh37] Chr20:20q11.22 |
pathogenic |
NM_007186.6(CEP250):c.5956G>A (p.Glu1986Lys) | single nucleotide variant | Inborn genetic diseases [RCV003371539] | Chr20:35504325 [GRCh38] Chr20:34092153 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.769G>A (p.Glu257Lys) | single nucleotide variant | Inborn genetic diseases [RCV003369659] | Chr20:35467473 [GRCh38] Chr20:34055298 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.4093G>C (p.Val1365Leu) | single nucleotide variant | Inborn genetic diseases [RCV003355291] | Chr20:35502462 [GRCh38] Chr20:34090290 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.2805G>A (p.Leu935=) | single nucleotide variant | not provided [RCV003875587] | Chr20:35491262 [GRCh38] Chr20:34079088 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7009-16T>C | single nucleotide variant | not provided [RCV003570448] | Chr20:35509982 [GRCh38] Chr20:34097811 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3316C>T (p.Leu1106=) | single nucleotide variant | not provided [RCV003569591] | Chr20:35497728 [GRCh38] Chr20:34085557 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3108G>A (p.Lys1036=) | single nucleotide variant | not provided [RCV003872740] | Chr20:35494598 [GRCh38] Chr20:34082425 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1935C>A (p.Val645=) | single nucleotide variant | not provided [RCV003431306] | Chr20:35477942 [GRCh38] Chr20:34065767 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3605A>T (p.Glu1202Val) | single nucleotide variant | not provided [RCV003440376] | Chr20:35498017 [GRCh38] Chr20:34085846 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.1710G>T (p.Leu570=) | single nucleotide variant | not provided [RCV003431305] | Chr20:35475640 [GRCh38] Chr20:34063465 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3604G>A (p.Glu1202Lys) | single nucleotide variant | not provided [RCV003440375] | Chr20:35498016 [GRCh38] Chr20:34085845 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.7265del (p.Leu2422fs) | deletion | CEP250-related condition [RCV003402390] | Chr20:35511562 [GRCh38] Chr20:34099391 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.3787A>C (p.Arg1263=) | single nucleotide variant | not provided [RCV003440377] | Chr20:35500058 [GRCh38] Chr20:34087887 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5793C>A (p.Ala1931=) | single nucleotide variant | not provided [RCV003575448] | Chr20:35504162 [GRCh38] Chr20:34091990 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2754+18T>C | single nucleotide variant | not provided [RCV003689216] | Chr20:35490822 [GRCh38] Chr20:34078648 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.326+10C>T | single nucleotide variant | not provided [RCV003689292] | Chr20:35465835 [GRCh38] Chr20:34053660 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5886G>A (p.Arg1962=) | single nucleotide variant | not provided [RCV003687210] | Chr20:35504255 [GRCh38] Chr20:34092083 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.5979T>C (p.Ser1993=) | single nucleotide variant | not provided [RCV003713470] | Chr20:35504348 [GRCh38] Chr20:34092176 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3656-4dup | duplication | not provided [RCV003661734] | Chr20:35498585..35498586 [GRCh38] Chr20:34086414..34086415 [GRCh37] Chr20:20q11.22 |
benign |
NM_007186.6(CEP250):c.5142G>A (p.Lys1714=) | single nucleotide variant | not provided [RCV003660571] | Chr20:35503511 [GRCh38] Chr20:34091339 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.4602A>G (p.Lys1534=) | single nucleotide variant | not provided [RCV003575772] | Chr20:35502971 [GRCh38] Chr20:34090799 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.599+2T>C | single nucleotide variant | not provided [RCV003661285] | Chr20:35467074 [GRCh38] Chr20:34054899 [GRCh37] Chr20:20q11.22 |
likely pathogenic |
NM_007186.6(CEP250):c.6750+19G>C | single nucleotide variant | not provided [RCV003661663] | Chr20:35507870 [GRCh38] Chr20:34095699 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.2609A>G (p.Gln870Arg) | single nucleotide variant | not provided [RCV003688784] | Chr20:35490659 [GRCh38] Chr20:34078485 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.5952C>T (p.Leu1984=) | single nucleotide variant | not provided [RCV003715380] | Chr20:35504321 [GRCh38] Chr20:34092149 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.273G>A (p.Val91=) | single nucleotide variant | not provided [RCV003715521] | Chr20:35465772 [GRCh38] Chr20:34053597 [GRCh37] Chr20:20q11.22 |
likely benign |
NM_007186.6(CEP250):c.3718G>A (p.Ala1240Thr) | single nucleotide variant | not provided [RCV003877111] | Chr20:35498657 [GRCh38] Chr20:34086486 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.1567C>T (p.Arg523Cys) | single nucleotide variant | not provided [RCV003547998] | Chr20:35474048 [GRCh38] Chr20:34061873 [GRCh37] Chr20:20q11.22 |
uncertain significance |
NM_007186.6(CEP250):c.493-10G>A | single nucleotide variant | not provided [RCV003547671] | Chr20:35466956 [GRCh38] Chr20:34054781 [GRCh37] Chr20:20q11.22 |
likely benign |
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. |
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ECD22967 |
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REN57794 |
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REN57795 |
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REN57796 |
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REN57797 |
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REN57798 |
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REN57799 |
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REN57800 |
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REN57801 |
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REN57802 |
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REN57803 |
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REN57804 |
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REN57807 |
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REN57808 |
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REN57809 |
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REN57810 |
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REN57811 |
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REN57812 |
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REN57813 |
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REN57814 |
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REN57815 |
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REN57816 |
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REN57817 |
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REN57818 |
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REN57821 |
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REN57822 |
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REN57828 |
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REN57829 |
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stSG636650 |
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stSG636651 |
|
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stSG636652 |
|
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stSG636653 |
|
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stSG636654 |
|
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stSG636655 |
|
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stSG636656 |
|
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stSG636658 |
|
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stSG636659 |
|
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stSG636660 |
|
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stSG636661 |
|
|||||||||||||||||||||||||||||||||||||||||||||
stSG636662 |
|
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stSG636663 |
|
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stSG636664 |
|
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stSG636665 |
|
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stSG636666 |
|
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stSG636667 |
|
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stSG636668 |
|
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stSG636669 |
|
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stSG636670 |
|
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stSG636671 |
|
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stSG636672 |
|
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stSG636673 |
|
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stSG636674 |
|
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stSG636675 |
|
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stSG636676 |
|
|||||||||||||||||||||||||||||||||||||||||||||
stSG636677 |
|
|||||||||||||||||||||||||||||||||||||||||||||
stSG636678 |
|
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RH79248 |
|
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 | 211 | 44 | 156 | 50 | 890 | 54 | 288 | 58 | 657 | 158 | 776 | 330 | 10 | 1 | 105 | 2 | ||
Low | 2228 | 2902 | 1568 | 572 | 1051 | 409 | 4068 | 2105 | 3077 | 260 | 684 | 1283 | 165 | 1204 | 2683 | 4 | 2 | |
Below cutoff | 45 | 2 | 2 | 10 | 2 | 34 | 1 |
RefSeq Transcripts | NG_051604 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001318219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_007186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005260262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005260263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005260264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006723690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006723691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006723692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006723693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006723694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011528517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011528518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011528519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017027619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047439864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322887 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322888 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322890 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322895 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322896 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322898 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322903 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322905 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054322910 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001754145 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB621828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF022655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF049105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK297572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK307861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL037087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL121586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW083819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC001433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC071869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144706 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM996444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FO393401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000397524 ⟹ ENSP00000380658 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000397527 ⟹ ENSP00000380661 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000420564 ⟹ ENSP00000414651 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000422671 ⟹ ENSP00000395992 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000425096 ⟹ ENSP00000400200 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000425525 ⟹ ENSP00000394346 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000425934 ⟹ ENSP00000413827 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000446710 ⟹ ENSP00000398747 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000461386 ⟹ ENSP00000419137 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000465987 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000474829 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000476146 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000487467 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000621352 ⟹ ENSP00000482323 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000706827 ⟹ ENSP00000516575 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000706828 ⟹ ENSP00000516576 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000706829 ⟹ ENSP00000516577 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000706830 ⟹ ENSP00000516578 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000706831 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000706832 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001318219 ⟹ NP_001305148 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_007186 ⟹ NP_009117 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005260262 ⟹ XP_005260319 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005260263 ⟹ XP_005260320 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005260264 ⟹ XP_005260321 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006723690 ⟹ XP_006723753 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006723691 ⟹ XP_006723754 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006723692 ⟹ XP_006723755 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006723693 ⟹ XP_006723756 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011528518 ⟹ XP_011526820 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011528519 ⟹ XP_011526821 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017027617 ⟹ XP_016883106 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017027618 ⟹ XP_016883107 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017027619 ⟹ XP_016883108 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047439853 ⟹ XP_047295809 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439854 ⟹ XP_047295810 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439855 ⟹ XP_047295811 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439856 ⟹ XP_047295812 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439857 ⟹ XP_047295813 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439858 ⟹ XP_047295814 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439859 ⟹ XP_047295815 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439860 ⟹ XP_047295816 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439861 ⟹ XP_047295817 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439862 ⟹ XP_047295818 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439863 ⟹ XP_047295819 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047439864 ⟹ XP_047295820 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322887 ⟹ XP_054178862 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322888 ⟹ XP_054178863 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322889 ⟹ XP_054178864 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322890 ⟹ XP_054178865 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322891 ⟹ XP_054178866 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322892 ⟹ XP_054178867 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322893 ⟹ XP_054178868 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322894 ⟹ XP_054178869 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322895 ⟹ XP_054178870 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322896 ⟹ XP_054178871 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322897 ⟹ XP_054178872 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322898 ⟹ XP_054178873 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322899 ⟹ XP_054178874 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322900 ⟹ XP_054178875 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322901 ⟹ XP_054178876 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322902 ⟹ XP_054178877 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322903 ⟹ XP_054178878 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322904 ⟹ XP_054178879 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322905 ⟹ XP_054178880 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322906 ⟹ XP_054178881 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322907 ⟹ XP_054178882 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322908 ⟹ XP_054178883 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322909 ⟹ XP_054178884 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054322910 ⟹ XP_054178885 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001305148 | (Get FASTA) | NCBI Sequence Viewer |
NP_009117 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005260319 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005260320 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005260321 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006723753 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006723754 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006723755 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006723756 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011526820 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011526821 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883106 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883107 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016883108 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295809 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295810 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295811 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295812 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295813 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295814 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295815 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295816 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295817 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295818 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295819 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047295820 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178862 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178863 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178864 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178865 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178866 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178867 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178868 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178869 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178870 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178871 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178872 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178873 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178874 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178875 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178876 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178877 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178878 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178879 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178880 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178881 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178882 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178883 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178884 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054178885 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC06349 | (Get FASTA) | NCBI Sequence Viewer |
AAC07988 | (Get FASTA) | NCBI Sequence Viewer | |
AAH71869 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59963 | (Get FASTA) | NCBI Sequence Viewer | |
BAK64163 | (Get FASTA) | NCBI Sequence Viewer | |
CAB89415 | (Get FASTA) | NCBI Sequence Viewer | |
CAI42839 | (Get FASTA) | NCBI Sequence Viewer | |
CAI42840 | (Get FASTA) | NCBI Sequence Viewer | |
CAO03345 | (Get FASTA) | NCBI Sequence Viewer | |
CAO03346 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76204 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76205 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76206 | (Get FASTA) | NCBI Sequence Viewer | |
EAW76207 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000380658.1 | ||
ENSP00000380661 | |||
ENSP00000380661.1 | |||
ENSP00000394346.1 | |||
ENSP00000395992.1 | |||
ENSP00000398747.1 | |||
ENSP00000400200.1 | |||
ENSP00000413827.1 | |||
ENSP00000414651.1 | |||
ENSP00000419137.1 | |||
ENSP00000482323.1 | |||
ENSP00000516575.1 | |||
ENSP00000516576.1 | |||
ENSP00000516577 | |||
ENSP00000516577.1 | |||
ENSP00000516578 | |||
ENSP00000516578.1 | |||
GenBank Protein | Q9BV73 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_009117 ⟸ NM_007186 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), Q9BV73 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005260320 ⟸ XM_005260263 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005260319 ⟸ XM_005260262 |
- Peptide Label: | isoform X1 |
- UniProtKB: | O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), Q9BV73 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005260321 ⟸ XM_005260264 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006723753 ⟸ XM_006723690 |
- Peptide Label: | isoform X1 |
- UniProtKB: | O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), Q9BV73 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006723755 ⟸ XM_006723692 |
- Peptide Label: | isoform X1 |
- UniProtKB: | O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), Q9BV73 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006723756 ⟸ XM_006723693 |
- Peptide Label: | isoform X1 |
- UniProtKB: | O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), Q9BV73 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006723754 ⟸ XM_006723691 |
- Peptide Label: | isoform X1 |
- UniProtKB: | O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), Q9BV73 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011526820 ⟸ XM_011528518 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011526821 ⟸ XM_011528519 |
- Peptide Label: | isoform X10 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001305148 ⟸ NM_001318219 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9BV73 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016883106 ⟸ XM_017027617 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A9L9PXD2 (UniProtKB/TrEMBL), A0A9L9PXZ7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016883107 ⟸ XM_017027618 |
- Peptide Label: | isoform X11 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016883108 ⟸ XM_017027619 |
- Peptide Label: | isoform X12 |
- Sequence: |
RefSeq Acc Id: | ENSP00000400200 ⟸ ENST00000425096 |
RefSeq Acc Id: | ENSP00000394346 ⟸ ENST00000425525 |
RefSeq Acc Id: | ENSP00000482323 ⟸ ENST00000621352 |
RefSeq Acc Id: | ENSP00000413827 ⟸ ENST00000425934 |
RefSeq Acc Id: | ENSP00000398747 ⟸ ENST00000446710 |
RefSeq Acc Id: | ENSP00000414651 ⟸ ENST00000420564 |
RefSeq Acc Id: | ENSP00000395992 ⟸ ENST00000422671 |
RefSeq Acc Id: | ENSP00000380661 ⟸ ENST00000397527 |
RefSeq Acc Id: | ENSP00000380658 ⟸ ENST00000397524 |
RefSeq Acc Id: | ENSP00000419137 ⟸ ENST00000461386 |
RefSeq Acc Id: | XP_047295810 ⟸ XM_047439854 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295818 ⟸ XM_047439862 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295815 ⟸ XM_047439859 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295809 ⟸ XM_047439853 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295813 ⟸ XM_047439857 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295816 ⟸ XM_047439860 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295819 ⟸ XM_047439863 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295812 ⟸ XM_047439856 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295817 ⟸ XM_047439861 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295820 ⟸ XM_047439864 |
- Peptide Label: | isoform X13 |
RefSeq Acc Id: | XP_047295814 ⟸ XM_047439858 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047295811 ⟸ XM_047439855 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSP00000516576 ⟸ ENST00000706828 |
RefSeq Acc Id: | ENSP00000516577 ⟸ ENST00000706829 |
RefSeq Acc Id: | ENSP00000516578 ⟸ ENST00000706830 |
RefSeq Acc Id: | ENSP00000516575 ⟸ ENST00000706827 |
RefSeq Acc Id: | XP_054178862 ⟸ XM_054322887 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BV73 (UniProtKB/Swiss-Prot), O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178869 ⟸ XM_054322894 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178881 ⟸ XM_054322906 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178878 ⟸ XM_054322903 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A9L9PXD2 (UniProtKB/TrEMBL), A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178885 ⟸ XM_054322910 |
- Peptide Label: | isoform X13 |
RefSeq Acc Id: | XP_054178876 ⟸ XM_054322901 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178866 ⟸ XM_054322891 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BV73 (UniProtKB/Swiss-Prot), O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178865 ⟸ XM_054322890 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BV73 (UniProtKB/Swiss-Prot), O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178877 ⟸ XM_054322902 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178867 ⟸ XM_054322892 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178872 ⟸ XM_054322897 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178879 ⟸ XM_054322904 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178871 ⟸ XM_054322896 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178874 ⟸ XM_054322899 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178864 ⟸ XM_054322889 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BV73 (UniProtKB/Swiss-Prot), O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178875 ⟸ XM_054322900 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178863 ⟸ XM_054322888 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BV73 (UniProtKB/Swiss-Prot), O60588 (UniProtKB/Swiss-Prot), O14812 (UniProtKB/Swiss-Prot), E1P5Q3 (UniProtKB/Swiss-Prot), Q9H450 (UniProtKB/Swiss-Prot), A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178868 ⟸ XM_054322893 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178870 ⟸ XM_054322895 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A9L9PXZ7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178873 ⟸ XM_054322898 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178880 ⟸ XM_054322905 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178882 ⟸ XM_054322907 |
- Peptide Label: | isoform X10 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178883 ⟸ XM_054322908 |
- Peptide Label: | isoform X11 |
- UniProtKB: | A0A9L9PXX3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054178884 ⟸ XM_054322909 |
- Peptide Label: | isoform X12 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9BV73-F1-model_v2 | AlphaFold | Q9BV73 | 1-2442 | view protein structure |
RGD ID: | 6798806 | ||||||||
Promoter ID: | HG_KWN:39191 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000374372, ENST00000397524, ENST00000397527, OTTHUMT00000125974, OTTHUMT00000125975, OTTHUMT00000315969, UC002XCM.1, UC002XCN.1, UC010GFE.1 | ||||||||
Position: |
|
RGD ID: | 6798594 | ||||||||
Promoter ID: | HG_KWN:39195 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000315971 | ||||||||
Position: |
|
RGD ID: | 6798596 | ||||||||
Promoter ID: | HG_KWN:39196 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000315972 | ||||||||
Position: |
|
RGD ID: | 6798597 | ||||||||
Promoter ID: | HG_KWN:39201 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000331753 | ||||||||
Position: |
|
RGD ID: | 13206783 | ||||||||
Promoter ID: | EPDNEW_H26972 | ||||||||
Type: | initiation region | ||||||||
Name: | CEP250_1 | ||||||||
Description: | centrosomal protein 250 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:1859 | AgrOrtholog |
COSMIC | CEP250 | COSMIC |
Ensembl Genes | ENSG00000126001 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000397524.5 | UniProtKB/TrEMBL |
ENST00000397527 | ENTREZGENE | |
ENST00000397527.6 | UniProtKB/Swiss-Prot | |
ENST00000420564.5 | UniProtKB/TrEMBL | |
ENST00000422671.1 | UniProtKB/TrEMBL | |
ENST00000425096.1 | UniProtKB/TrEMBL | |
ENST00000425525.1 | UniProtKB/TrEMBL | |
ENST00000425934.5 | UniProtKB/TrEMBL | |
ENST00000446710.5 | UniProtKB/TrEMBL | |
ENST00000461386.5 | UniProtKB/TrEMBL | |
ENST00000621352.1 | UniProtKB/TrEMBL | |
ENST00000706827.1 | UniProtKB/TrEMBL | |
ENST00000706828.1 | UniProtKB/TrEMBL | |
ENST00000706829 | ENTREZGENE | |
ENST00000706829.1 | UniProtKB/TrEMBL | |
ENST00000706830 | ENTREZGENE | |
ENST00000706830.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.1490 | UniProtKB/TrEMBL |
GTEx | ENSG00000126001 | GTEx |
HGNC ID | HGNC:1859 | ENTREZGENE |
Human Proteome Map | CEP250 | Human Proteome Map |
KEGG Report | hsa:11190 | UniProtKB/Swiss-Prot |
NCBI Gene | 11190 | ENTREZGENE |
OMIM | 609689 | OMIM |
PANTHER | CENTROSOMAL PROTEIN 2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CENTROSOME-ASSOCIATED PROTEIN CEP250 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Rootletin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA26415 | PharmGKB |
UniProt | A0A087WZ34_HUMAN | UniProtKB/TrEMBL |
A0A9L9PXD2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A9L9PXK6_HUMAN | UniProtKB/TrEMBL | |
A0A9L9PXX3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A9L9PXZ7 | ENTREZGENE, UniProtKB/TrEMBL | |
A6PVI9_HUMAN | UniProtKB/TrEMBL | |
A6PVJ0_HUMAN | UniProtKB/TrEMBL | |
CP250_HUMAN | UniProtKB/Swiss-Prot | |
E1P5Q3 | ENTREZGENE | |
E7ETF9_HUMAN | UniProtKB/TrEMBL | |
E9PHT2_HUMAN | UniProtKB/TrEMBL | |
G1UI40_HUMAN | UniProtKB/TrEMBL | |
H0Y5R2_HUMAN | UniProtKB/TrEMBL | |
H7C0D6_HUMAN | UniProtKB/TrEMBL | |
H7C0P0_HUMAN | UniProtKB/TrEMBL | |
O14812 | ENTREZGENE | |
O60588 | ENTREZGENE | |
Q5JWS5_HUMAN | UniProtKB/TrEMBL | |
Q5JWS6_HUMAN | UniProtKB/TrEMBL | |
Q6IPL3_HUMAN | UniProtKB/TrEMBL | |
Q9BV73 | ENTREZGENE | |
Q9H450 | ENTREZGENE | |
UniProt Secondary | E1P5Q3 | UniProtKB/Swiss-Prot |
O14812 | UniProtKB/Swiss-Prot | |
O60588 | UniProtKB/Swiss-Prot | |
Q9H450 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-04-04 | CEP250 | centrosomal protein 250 | centrosomal protein 250kDa | Symbol and/or name change | 5135510 | APPROVED |