Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DISP1 | Human | gastrointestinal stromal tumor | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:27793025 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DISP1 | Human | gastrointestinal stromal tumor | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:27793025 | |
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# | Reference Title | Reference Citation |
1. | Hedgehog signaling update. | Cohen MM, Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909. |
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 |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
5. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:10619433 | PMID:12372301 | PMID:14702039 | PMID:16258256 | PMID:16344560 | PMID:19184110 | PMID:20301702 | PMID:20379614 | PMID:20799323 | PMID:20951845 | PMID:21873635 | PMID:22733134 |
PMID:25416956 | PMID:25824302 | PMID:26631746 | PMID:28514442 | PMID:29507755 | PMID:29953682 | PMID:30575818 | PMID:31343991 | PMID:31871319 | PMID:32646883 | PMID:32814053 | PMID:33961781 |
PMID:34308968 | PMID:34845226 | PMID:35563538 | PMID:38529886 |
DISP1 (Homo sapiens - human) |
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Disp1 (Mus musculus - house mouse) |
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Disp1 (Rattus norvegicus - Norway rat) |
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Disp1 (Chinchilla lanigera - long-tailed chinchilla) |
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DISP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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DISP1 (Canis lupus familiaris - dog) |
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Disp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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DISP1 (Sus scrofa - pig) |
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DISP1 (Chlorocebus sabaeus - green monkey) |
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Disp1 (Heterocephalus glaber - naked mole-rat) |
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Variants in DISP1
294 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001377229.1(DISP1):c.3202C>T (p.Arg1068Ter) | single nucleotide variant | not provided [RCV000519011] | Chr1:223004599 [GRCh38] Chr1:223177941 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_032890.3(DISP1):c.-244+5243G>T | single nucleotide variant | Lung cancer [RCV000090554] | Chr1:222820414 [GRCh38] Chr1:222993756 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 | copy number gain | See cases [RCV000050981] | Chr1:214023812..248918469 [GRCh38] Chr1:214197155..249212668 [GRCh37] Chr1:212263778..247179291 [NCBI36] Chr1:1q32.3-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] | Chr1:221902539..248918469 [GRCh38] Chr1:222075881..249212668 [GRCh37] Chr1:220142504..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 | copy number gain | See cases [RCV000051857] | Chr1:187143981..224299417 [GRCh38] Chr1:187113113..224487119 [GRCh37] Chr1:185379736..222553742 [NCBI36] Chr1:1q31.1-42.11 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 | copy number gain | See cases [RCV000051861] | Chr1:209646207..248931113 [GRCh38] Chr1:209819552..249225312 [GRCh37] Chr1:207886175..247191935 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] | Chr1:221519280..228862141 [GRCh38] Chr1:221692622..228997888 [GRCh37] Chr1:219759245..227064511 [NCBI36] Chr1:1q41-42.13 |
pathogenic |
NM_032890.3(DISP1):c.723G>A (p.Val241=) | single nucleotide variant | Malignant melanoma [RCV000064543] | Chr1:222991579 [GRCh38] Chr1:223164921 [GRCh37] Chr1:221231544 [NCBI36] Chr1:1q41 |
not provided |
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 | copy number gain | See cases [RCV000134979] | Chr1:209963625..248918469 [GRCh38] Chr1:210136970..249212668 [GRCh37] Chr1:208203593..247179291 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q41(chr1:222676842-223882311)x1 | copy number loss | See cases [RCV000135634] | Chr1:222676842..223882311 [GRCh38] Chr1:222850184..224070013 [GRCh37] Chr1:220916807..222136636 [NCBI36] Chr1:1q41 |
likely pathogenic|likely benign |
GRCh38/hg38 1q41(chr1:220673535-223683512)x1 | copy number loss | See cases [RCV000135795] | Chr1:220673535..223683512 [GRCh38] Chr1:220846877..223871214 [GRCh37] Chr1:218913500..221937837 [NCBI36] Chr1:1q41 |
pathogenic |
GRCh38/hg38 1q41(chr1:221979950-223007060)x3 | copy number gain | See cases [RCV000137718] | Chr1:221979950..223007060 [GRCh38] Chr1:222153292..223180402 [GRCh37] Chr1:220219915..221247025 [NCBI36] Chr1:1q41 |
uncertain significance |
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 | copy number gain | See cases [RCV000142054] | Chr1:204764914..225408698 [GRCh38] Chr1:204734042..225596400 [GRCh37] Chr1:203000665..223663023 [NCBI36] Chr1:1q32.1-42.12 |
pathogenic |
GRCh38/hg38 1q41(chr1:222968205-223052551)x3 | copy number gain | See cases [RCV000143059] | Chr1:222968205..223052551 [GRCh38] Chr1:223141547..223225893 [GRCh37] Chr1:221208170..221292516 [NCBI36] Chr1:1q41 |
likely pathogenic |
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 | copy number gain | See cases [RCV000143727] | Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
NM_001377229.1(DISP1):c.4193G>A (p.Ser1398Asn) | single nucleotide variant | not specified [RCV000203143] | Chr1:223005590 [GRCh38] Chr1:223178932 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 | copy number gain | See cases [RCV000240137] | Chr1:197811907..228997888 [GRCh37] Chr1:1q31.3-42.13 |
pathogenic |
NM_001377229.1(DISP1):c.1657G>A (p.Glu553Lys) | single nucleotide variant | Lobar holoprosencephaly [RCV000223691] | Chr1:223003054 [GRCh38] Chr1:223176396 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2898G>A (p.Trp966Ter) | single nucleotide variant | Microform holoprosencephaly [RCV000223782]|not provided [RCV004597762] | Chr1:223004295 [GRCh38] Chr1:223177637 [GRCh37] Chr1:1q41 |
likely pathogenic|uncertain significance |
NM_001377229.1(DISP1):c.1087A>G (p.Asn363Asp) | single nucleotide variant | Lobar holoprosencephaly [RCV000223857] | Chr1:223002484 [GRCh38] Chr1:223175826 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3487A>G (p.Ser1163Gly) | single nucleotide variant | not provided [RCV000757156] | Chr1:223004884 [GRCh38] Chr1:223178226 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.2719A>G (p.Ser907Gly) | single nucleotide variant | not provided [RCV000757157] | Chr1:223004116 [GRCh38] Chr1:223177458 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1322C>T (p.Thr441Met) | single nucleotide variant | DISP1-related disorder [RCV003947960]|not provided [RCV000757158] | Chr1:223002719 [GRCh38] Chr1:223176061 [GRCh37] Chr1:1q41 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001377229.1(DISP1):c.307G>A (p.Glu103Lys) | single nucleotide variant | not provided [RCV001706383]|not specified [RCV000251551] | Chr1:222943130 [GRCh38] Chr1:222943130..222943131 [GRCh38] Chr1:223116472 [GRCh37] Chr1:223116472..223116473 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.2835A>G (p.Lys945=) | single nucleotide variant | not provided [RCV001706382]|not specified [RCV000246791] | Chr1:223004232 [GRCh38] Chr1:223177574 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.3822A>C (p.Pro1274=) | single nucleotide variant | not provided [RCV001651261]|not specified [RCV000249331] | Chr1:223005219 [GRCh38] Chr1:223178561 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.309G>T (p.Glu103Asp) | single nucleotide variant | not provided [RCV001706384]|not specified [RCV000244588] | Chr1:222943132 [GRCh38] Chr1:223116474 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.890-14T>C | single nucleotide variant | not provided [RCV001651262]|not specified [RCV000252901] | Chr1:222994871 [GRCh38] Chr1:223168213 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.3992A>C (p.His1331Pro) | single nucleotide variant | not provided [RCV000271064] | Chr1:223005389 [GRCh38] Chr1:223178731 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.619G>C (p.Gly207Arg) | single nucleotide variant | not provided [RCV000489127] | Chr1:222990704 [GRCh38] Chr1:223164046 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.543T>G (p.Tyr181Ter) | single nucleotide variant | not provided [RCV000489132] | Chr1:222990628 [GRCh38] Chr1:223163970 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1094C>G (p.Ser365Trp) | single nucleotide variant | not specified [RCV004287892] | Chr1:223002491 [GRCh38] Chr1:223175833 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3705C>A (p.Tyr1235Ter) | single nucleotide variant | not provided [RCV000579116] | Chr1:223005102 [GRCh38] Chr1:223178444 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 | copy number gain | See cases [RCV000449172] | Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
NM_001377229.1(DISP1):c.743C>T (p.Ala248Val) | single nucleotide variant | Holoprosencephaly sequence [RCV000453630]|not provided [RCV002522740] | Chr1:222991599 [GRCh38] Chr1:223164941 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 | copy number gain | See cases [RCV000449210] | Chr1:214697099..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1q41(chr1:223136439-223407603)x3 | copy number gain | See cases [RCV000446328] | Chr1:223136439..223407603 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2202C>A (p.Tyr734Ter) | single nucleotide variant | not provided [RCV000419225] | Chr1:223003599 [GRCh38] Chr1:223176941 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2456C>A (p.Ala819Asp) | single nucleotide variant | not provided [RCV000480553] | Chr1:223003853 [GRCh38] Chr1:223177195 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4008del (p.Cys1337fs) | deletion | not provided [RCV000484674] | Chr1:223005403 [GRCh38] Chr1:223178745 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3990_3993del (p.His1331fs) | deletion | not provided [RCV000480989] | Chr1:223005384..223005387 [GRCh38] Chr1:223178726..223178729 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3206A>G (p.Glu1069Gly) | single nucleotide variant | not provided [RCV000481343] | Chr1:223004603 [GRCh38] Chr1:223177945 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2284G>C (p.Glu762Gln) | single nucleotide variant | not provided [RCV000482296] | Chr1:223003681 [GRCh38] Chr1:223177023 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.89C>T (p.Pro30Leu) | single nucleotide variant | not provided [RCV000486495] | Chr1:222942912 [GRCh38] Chr1:223116254 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3104A>G (p.Asn1035Ser) | single nucleotide variant | not provided [RCV000486922] | Chr1:223004501 [GRCh38] Chr1:223177843 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2485C>T (p.His829Tyr) | single nucleotide variant | not provided [RCV000478275] | Chr1:223003882 [GRCh38] Chr1:223177224 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_001377229.1(DISP1):c.559G>A (p.Asp187Asn) | single nucleotide variant | not provided [RCV002527350]|not specified [RCV000508451] | Chr1:222990644 [GRCh38] Chr1:223163986 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3781G>A (p.Val1261Met) | single nucleotide variant | not provided [RCV001692155] | Chr1:223005178 [GRCh38] Chr1:223178520 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.1950A>G (p.Thr650=) | single nucleotide variant | not provided [RCV000961349] | Chr1:223003347 [GRCh38] Chr1:223176689 [GRCh37] Chr1:1q41 |
benign|likely benign |
NM_001377229.1(DISP1):c.75G>A (p.Pro25=) | single nucleotide variant | not provided [RCV001662506] | Chr1:222942898 [GRCh38] Chr1:223116240 [GRCh37] Chr1:1q41 |
benign |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_001377229.1(DISP1):c.2921A>G (p.Tyr974Cys) | single nucleotide variant | not specified [RCV004294119] | Chr1:223004318 [GRCh38] Chr1:223177660 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.860A>T (p.His287Leu) | single nucleotide variant | not specified [RCV004322870] | Chr1:222992081 [GRCh38] Chr1:223165423 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.721G>A (p.Val241Met) | single nucleotide variant | not specified [RCV004323776] | Chr1:222991577 [GRCh38] Chr1:223164919 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1022A>G (p.Gln341Arg) | single nucleotide variant | not specified [RCV004306416] | Chr1:223002419 [GRCh38] Chr1:223175761 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 | copy number gain | not provided [RCV000684700] | Chr1:218252551..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_001377229.1(DISP1):c.3153C>T (p.Asp1051=) | single nucleotide variant | not provided [RCV000960227] | Chr1:223004550 [GRCh38] Chr1:223177892 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.186C>G (p.Val62=) | single nucleotide variant | not provided [RCV000896763] | Chr1:222943009 [GRCh38] Chr1:223116351 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.3235G>A (p.Val1079Met) | single nucleotide variant | not provided [RCV001647715] | Chr1:223004632 [GRCh38] Chr1:223177974 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.1843A>G (p.Thr615Ala) | single nucleotide variant | not provided [RCV000756014] | Chr1:223003240 [GRCh38] Chr1:223176582 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4263C>T (p.Asp1421=) | single nucleotide variant | not provided [RCV000898510] | Chr1:223005660 [GRCh38] Chr1:223179002 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.2781C>T (p.Phe927=) | single nucleotide variant | not provided [RCV000898614] | Chr1:223004178 [GRCh38] Chr1:223177520 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.879C>T (p.Cys293=) | single nucleotide variant | DISP1-related disorder [RCV003978132]|not provided [RCV000945021] | Chr1:222992100 [GRCh38] Chr1:223165442 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3696T>C (p.His1232=) | single nucleotide variant | not provided [RCV000914623] | Chr1:223005093 [GRCh38] Chr1:223178435 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1542C>T (p.Val514=) | single nucleotide variant | not provided [RCV000901322] | Chr1:223002939 [GRCh38] Chr1:223176281 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2019C>T (p.Pro673=) | single nucleotide variant | not provided [RCV000921530] | Chr1:223003416 [GRCh38] Chr1:223176758 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2271G>A (p.Ser757=) | single nucleotide variant | not provided [RCV000901933] | Chr1:223003668 [GRCh38] Chr1:223177010 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr) | single nucleotide variant | DISP1-related disorder [RCV003930580]|not provided [RCV000882749] | Chr1:223004684 [GRCh38] Chr1:223178026 [GRCh37] Chr1:1q41 |
benign|likely benign |
NM_001377229.1(DISP1):c.3273C>T (p.Phe1091=) | single nucleotide variant | DISP1-related disorder [RCV003910443]|not provided [RCV000884467] | Chr1:223004670 [GRCh38] Chr1:223178012 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.1188A>G (p.Pro396=) | single nucleotide variant | not provided [RCV000971263] | Chr1:223002585 [GRCh38] Chr1:223175927 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3842A>T (p.Asn1281Ile) | single nucleotide variant | not provided [RCV000897809] | Chr1:223005239 [GRCh38] Chr1:223178581 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2871G>A (p.Ser957=) | single nucleotide variant | not provided [RCV000929399] | Chr1:223004268 [GRCh38] Chr1:223177610 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3931G>A (p.Gly1311Ser) | single nucleotide variant | not provided [RCV000923533] | Chr1:223005328 [GRCh38] Chr1:223178670 [GRCh37] Chr1:1q41 |
likely benign|conflicting interpretations of pathogenicity |
NM_001377229.1(DISP1):c.1911G>C (p.Ala637=) | single nucleotide variant | DISP1-related disorder [RCV003903095]|not provided [RCV000933242] | Chr1:223003308 [GRCh38] Chr1:223176650 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.51C>T (p.Ser17=) | single nucleotide variant | not provided [RCV000942262] | Chr1:222942874 [GRCh38] Chr1:223116216 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3801G>T (p.Leu1267=) | single nucleotide variant | not provided [RCV000943748] | Chr1:223005198 [GRCh38] Chr1:223178540 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2439T>C (p.Asp813=) | single nucleotide variant | DISP1-related disorder [RCV003895489]|not provided [RCV000900732] | Chr1:223003836 [GRCh38] Chr1:223177178 [GRCh37] Chr1:1q41 |
benign|likely benign |
NM_001377229.1(DISP1):c.657A>G (p.Pro219=) | single nucleotide variant | not provided [RCV000981842] | Chr1:222990742 [GRCh38] Chr1:223164084 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.275C>G (p.Thr92Ser) | single nucleotide variant | not provided [RCV000924358] | Chr1:222943098 [GRCh38] Chr1:223116440 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4249T>C (p.Cys1417Arg) | single nucleotide variant | not provided [RCV000930008] | Chr1:223005646 [GRCh38] Chr1:223178988 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4175C>T (p.Ser1392Leu) | single nucleotide variant | not provided [RCV000981315] | Chr1:223005572 [GRCh38] Chr1:223178914 [GRCh37] Chr1:1q41 |
likely benign |
GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1 | copy number loss | not provided [RCV001005174] | Chr1:219734913..224104993 [GRCh37] Chr1:1q41-42.11 |
pathogenic |
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 | copy number gain | not provided [RCV000845852] | Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44 |
pathogenic |
NM_001377229.1(DISP1):c.3536A>C (p.Asp1179Ala) | single nucleotide variant | not provided [RCV000918461] | Chr1:223004933 [GRCh38] Chr1:223178275 [GRCh37] Chr1:1q41 |
likely benign |
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 | copy number gain | See cases [RCV001194578] | Chr1:210152794..249218992 [GRCh37] Chr1:1q32.2-44 |
pathogenic |
NM_001377229.1(DISP1):c.2922T>C (p.Tyr974=) | single nucleotide variant | not provided [RCV000892029] | Chr1:223004319 [GRCh38] Chr1:223177661 [GRCh37] Chr1:1q41 |
benign |
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 | copy number loss | not provided [RCV001005178] | Chr1:222641389..228137574 [GRCh37] Chr1:1q41-42.13 |
pathogenic |
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 | copy number gain | not provided [RCV001005175] | Chr1:219916966..239004378 [GRCh37] Chr1:1q41-43 |
pathogenic |
NM_001377229.1(DISP1):c.988-347G>A | single nucleotide variant | not provided [RCV001609355] | Chr1:223002038 [GRCh38] Chr1:223175380 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.539+129T>C | single nucleotide variant | not provided [RCV001547085] | Chr1:222983238 [GRCh38] Chr1:223156580 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2153G>A (p.Arg718His) | single nucleotide variant | not provided [RCV003730486]|not specified [RCV004291678] | Chr1:223003550 [GRCh38] Chr1:223176892 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2032T>G (p.Tyr678Asp) | single nucleotide variant | not specified [RCV004289533] | Chr1:223003429 [GRCh38] Chr1:223176771 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1613C>A (p.Ser538Tyr) | single nucleotide variant | not provided [RCV001557358] | Chr1:223003010 [GRCh38] Chr1:223176352 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.-17-40C>T | single nucleotide variant | not provided [RCV001649626] | Chr1:222942767 [GRCh38] Chr1:223116109 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.1008del (p.Phe336fs) | deletion | not provided [RCV001557902] | Chr1:223002403 [GRCh38] Chr1:223175745 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.510-208C>T | single nucleotide variant | not provided [RCV001540158] | Chr1:222982872 [GRCh38] Chr1:223156214 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.3735T>A (p.Ser1245Arg) | single nucleotide variant | not provided [RCV000907661] | Chr1:223005132 [GRCh38] Chr1:223178474 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1809C>T (p.His603=) | single nucleotide variant | DISP1-related disorder [RCV003902958]|not provided [RCV000916356] | Chr1:223003206 [GRCh38] Chr1:223176548 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2783A>G (p.Gln928Arg) | single nucleotide variant | not provided [RCV000887351] | Chr1:223004180 [GRCh38] Chr1:223177522 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3716T>C (p.Leu1239Pro) | single nucleotide variant | DISP1-related disorder [RCV003962897]|not provided [RCV000972672] | Chr1:223005113 [GRCh38] Chr1:223178455 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.1773C>T (p.Ala591=) | single nucleotide variant | DISP1-related disorder [RCV003902861]|not provided [RCV000909343] | Chr1:223003170 [GRCh38] Chr1:223176512 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1074C>T (p.Ile358=) | single nucleotide variant | not provided [RCV000917762] | Chr1:223002471 [GRCh38] Chr1:223175813 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3209G>A (p.Gly1070Asp) | single nucleotide variant | not provided [RCV000884384] | Chr1:223004606 [GRCh38] Chr1:223177948 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.558C>T (p.Ala186=) | single nucleotide variant | not provided [RCV000976076] | Chr1:222990643 [GRCh38] Chr1:223163985 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2250C>T (p.Ser750=) | single nucleotide variant | not provided [RCV000917395] | Chr1:223003647 [GRCh38] Chr1:223176989 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.414G>A (p.Thr138=) | single nucleotide variant | not provided [RCV000954852]|not specified [RCV001001601] | Chr1:222943237 [GRCh38] Chr1:223116579 [GRCh37] Chr1:1q41 |
benign|likely benign |
NM_001377229.1(DISP1):c.3966C>T (p.Val1322=) | single nucleotide variant | not provided [RCV000953438] | Chr1:223005363 [GRCh38] Chr1:223178705 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.2267G>A (p.Arg756Gln) | single nucleotide variant | not provided [RCV000913520] | Chr1:223003664 [GRCh38] Chr1:223177006 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4173A>G (p.Pro1391=) | single nucleotide variant | not provided [RCV000913981] | Chr1:223005570 [GRCh38] Chr1:223178912 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1911G>T (p.Ala637=) | single nucleotide variant | not provided [RCV000912906] | Chr1:223003308 [GRCh38] Chr1:223176650 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1804C>A (p.Gln602Lys) | single nucleotide variant | not provided [RCV001528919]|not specified [RCV004039200] | Chr1:223003201 [GRCh38] Chr1:223176543 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.509+249A>T | single nucleotide variant | not provided [RCV001688817] | Chr1:222943581 [GRCh38] Chr1:223116923 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.988-231A>G | single nucleotide variant | not provided [RCV001553514] | Chr1:223002154 [GRCh38] Chr1:223175496 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2477G>A (p.Trp826Ter) | single nucleotide variant | not provided [RCV001565921] | Chr1:223003874 [GRCh38] Chr1:223177216 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4215G>A (p.Thr1405=) | single nucleotide variant | not provided [RCV001560602] | Chr1:223005612 [GRCh38] Chr1:223178954 [GRCh37] Chr1:1q41 |
benign|likely benign |
NM_001377229.1(DISP1):c.3738C>T (p.Asp1246=) | single nucleotide variant | not provided [RCV001618758] | Chr1:223005135 [GRCh38] Chr1:223178477 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.539+202C>T | single nucleotide variant | not provided [RCV001638829] | Chr1:222983311 [GRCh38] Chr1:223156653 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.510-40C>T | single nucleotide variant | not provided [RCV001655314] | Chr1:222983040 [GRCh38] Chr1:223156382 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.664-315A>T | single nucleotide variant | not provided [RCV001694375] | Chr1:222991205 [GRCh38] Chr1:223164547 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.-17-279G>A | single nucleotide variant | not provided [RCV001593953] | Chr1:222942528 [GRCh38] Chr1:223115870 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.307_309delinsAAT (p.Glu103Asn) | indel | not provided [RCV001812620] | Chr1:222943130..222943132 [GRCh38] Chr1:223116472..223116474 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.1536G>A (p.Val512=) | single nucleotide variant | not provided [RCV001664608] | Chr1:223002933 [GRCh38] Chr1:223176275 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.509+213C>T | single nucleotide variant | not provided [RCV001610971] | Chr1:222943545 [GRCh38] Chr1:223116887 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.3739G>A (p.Ala1247Thr) | single nucleotide variant | not provided [RCV001692345] | Chr1:223005136 [GRCh38] Chr1:223178478 [GRCh37] Chr1:1q41 |
benign |
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 | copy number gain | See cases [RCV001007407] | Chr1:204045948..249218992 [GRCh37] Chr1:1q32.1-44 |
pathogenic |
GRCh37/hg19 1q41(chr1:222872455-223180337)x1 | copy number loss | not provided [RCV001259109] | Chr1:222872455..223180337 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1 | copy number loss | not provided [RCV001259110] | Chr1:222605125..224696628 [GRCh37] Chr1:1q41-42.12 |
pathogenic |
NM_001377229.1(DISP1):c.1774G>A (p.Glu592Lys) | single nucleotide variant | not provided [RCV001786563] | Chr1:223003171 [GRCh38] Chr1:223176513 [GRCh37] Chr1:1q41 |
likely benign|conflicting interpretations of pathogenicity |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_001377229.1(DISP1):c.3413del (p.Gly1138fs) | deletion | Microform holoprosencephaly [RCV001374604]|not provided [RCV001773740] | Chr1:223004808 [GRCh38] Chr1:223178150 [GRCh37] Chr1:1q41 |
uncertain significance |
NC_000001.11:g.223006057A>C | single nucleotide variant | not provided [RCV001538917] | Chr1:223006057 [GRCh38] Chr1:223179399 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.791+85T>G | single nucleotide variant | not provided [RCV001673589] | Chr1:222991732 [GRCh38] Chr1:223165074 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.510-131dup | duplication | not provided [RCV001687660] | Chr1:222982938..222982939 [GRCh38] Chr1:223156280..223156281 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.510-132_510-131dup | duplication | not provided [RCV001648142] | Chr1:222982938..222982939 [GRCh38] Chr1:223156280..223156281 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.3688C>T (p.Pro1230Ser) | single nucleotide variant | not provided [RCV003108745]|not specified [RCV004244542] | Chr1:223005085 [GRCh38] Chr1:223178427 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.995C>T (p.Ser332Phe) | single nucleotide variant | not provided [RCV001763479] | Chr1:223002392 [GRCh38] Chr1:223175734 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.600_601insAT (p.Val201fs) | insertion | not provided [RCV001758467] | Chr1:222990685..222990686 [GRCh38] Chr1:223164027..223164028 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2549G>C (p.Ser850Thr) | single nucleotide variant | not provided [RCV001772606] | Chr1:223003946 [GRCh38] Chr1:223177288 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1292T>C (p.Leu431Ser) | single nucleotide variant | not provided [RCV001772638] | Chr1:223002689 [GRCh38] Chr1:223176031 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1339C>T (p.Pro447Ser) | single nucleotide variant | not provided [RCV001764890] | Chr1:223002736 [GRCh38] Chr1:223176078 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.540-10T>A | single nucleotide variant | not provided [RCV001772701] | Chr1:222990615 [GRCh38] Chr1:223163957 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.943A>G (p.Asn315Asp) | single nucleotide variant | not provided [RCV001771263] | Chr1:222994938 [GRCh38] Chr1:223168280 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3229A>G (p.Ser1077Gly) | single nucleotide variant | not provided [RCV001763360] | Chr1:223004626 [GRCh38] Chr1:223177968 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.326C>T (p.Pro109Leu) | single nucleotide variant | not provided [RCV001764035] | Chr1:222943149 [GRCh38] Chr1:223116491 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3157G>C (p.Ala1053Pro) | single nucleotide variant | not provided [RCV001767343] | Chr1:223004554 [GRCh38] Chr1:223177896 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3097G>A (p.Glu1033Lys) | single nucleotide variant | not provided [RCV001766928] | Chr1:223004494 [GRCh38] Chr1:223177836 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1681A>G (p.Thr561Ala) | single nucleotide variant | not provided [RCV001765244] | Chr1:223003078 [GRCh38] Chr1:223176420 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3344T>C (p.Ile1115Thr) | single nucleotide variant | not provided [RCV001774156] | Chr1:223004741 [GRCh38] Chr1:223178083 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2065C>T (p.Gln689Ter) | single nucleotide variant | not provided [RCV001752557] | Chr1:223003462 [GRCh38] Chr1:223176804 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1163A>G (p.His388Arg) | single nucleotide variant | not provided [RCV001774348] | Chr1:223002560 [GRCh38] Chr1:223175902 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3701C>G (p.Ala1234Gly) | single nucleotide variant | not provided [RCV001774438] | Chr1:223005098 [GRCh38] Chr1:223178440 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.992G>C (p.Arg331Thr) | single nucleotide variant | DISP1-related Holoprosencephaly [RCV001784096] | Chr1:223002389 [GRCh38] Chr1:223175731 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3652G>C (p.Glu1218Gln) | single nucleotide variant | not provided [RCV001763115] | Chr1:223005049 [GRCh38] Chr1:223178391 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.463G>A (p.Asp155Asn) | single nucleotide variant | not provided [RCV001763583] | Chr1:222943286 [GRCh38] Chr1:223116628 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3961G>A (p.Ala1321Thr) | single nucleotide variant | not provided [RCV001757176] | Chr1:223005358 [GRCh38] Chr1:223178700 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.566C>T (p.Pro189Leu) | single nucleotide variant | Microform holoprosencephaly [RCV001809258] | Chr1:222990651 [GRCh38] Chr1:223163993 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.664G>A (p.Gly222Ser) | single nucleotide variant | Microform holoprosencephaly [RCV001809259] | Chr1:222991520 [GRCh38] Chr1:223164862 [GRCh37] Chr1:1q41 |
uncertain significance |
Single allele | deletion | Loeys-Dietz syndrome 4 [RCV001837015] | Chr1:215199578..223035427 [GRCh37] Chr1:1q41 |
pathogenic |
NM_001377229.1(DISP1):c.322G>A (p.Ala108Thr) | single nucleotide variant | not provided [RCV001873029] | Chr1:222943145 [GRCh38] Chr1:223116487 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41(chr1:223138949-223407603)x3 | copy number gain | not provided [RCV001827840] | Chr1:223138949..223407603 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) | copy number gain | not specified [RCV002052845] | Chr1:221303919..227461343 [GRCh37] Chr1:1q41-42.13 |
pathogenic |
NM_001377229.1(DISP1):c.3838T>A (p.Leu1280Met) | single nucleotide variant | not provided [RCV001910669] | Chr1:223005235 [GRCh38] Chr1:223178577 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41(chr1:222153928-223209242) | copy number loss | not specified [RCV002052856] | Chr1:222153928..223209242 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1337C>T (p.Thr446Met) | single nucleotide variant | not provided [RCV002021854]|not specified [RCV004043974] | Chr1:223002734 [GRCh38] Chr1:223176076 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1081C>G (p.Leu361Val) | single nucleotide variant | not provided [RCV002043204] | Chr1:223002478 [GRCh38] Chr1:223175820 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41(chr1:223136439-223407603) | copy number gain | not specified [RCV002052867] | Chr1:223136439..223407603 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4036G>A (p.Gly1346Arg) | single nucleotide variant | not provided [RCV001910352] | Chr1:223005433 [GRCh38] Chr1:223178775 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.601G>A (p.Val201Ile) | single nucleotide variant | not provided [RCV001920447] | Chr1:222990686 [GRCh38] Chr1:223164028 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2066A>T (p.Gln689Leu) | single nucleotide variant | not provided [RCV002037150] | Chr1:223003463 [GRCh38] Chr1:223176805 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.856T>C (p.Phe286Leu) | single nucleotide variant | not provided [RCV002035196] | Chr1:222992077 [GRCh38] Chr1:223165419 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2564C>T (p.Thr855Ile) | single nucleotide variant | not provided [RCV002013720] | Chr1:223003961 [GRCh38] Chr1:223177303 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1601C>A (p.Ala534Glu) | single nucleotide variant | not provided [RCV001936135] | Chr1:223002998 [GRCh38] Chr1:223176340 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.739A>G (p.Lys247Glu) | single nucleotide variant | not provided [RCV002047815] | Chr1:222991595 [GRCh38] Chr1:223164937 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3788A>C (p.His1263Pro) | single nucleotide variant | not provided [RCV001955658] | Chr1:223005185 [GRCh38] Chr1:223178527 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.341C>T (p.Ser114Leu) | single nucleotide variant | not provided [RCV002013007]|not specified [RCV004045969] | Chr1:222943164 [GRCh38] Chr1:223116506 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1406T>C (p.Leu469Ser) | single nucleotide variant | not provided [RCV002014593] | Chr1:223002803 [GRCh38] Chr1:223176145 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3958C>T (p.Gln1320Ter) | single nucleotide variant | not provided [RCV001953346] | Chr1:223005355 [GRCh38] Chr1:223178697 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4346G>C (p.Ser1449Thr) | single nucleotide variant | not provided [RCV002013300] | Chr1:223005743 [GRCh38] Chr1:223179085 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1075G>A (p.Ala359Thr) | single nucleotide variant | not provided [RCV001974709] | Chr1:223002472 [GRCh38] Chr1:223175814 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3233G>A (p.Arg1078His) | single nucleotide variant | not provided [RCV001869895] | Chr1:223004630 [GRCh38] Chr1:223177972 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1400T>C (p.Ile467Thr) | single nucleotide variant | not provided [RCV001938959] | Chr1:223002797 [GRCh38] Chr1:223176139 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4224C>A (p.Asp1408Glu) | single nucleotide variant | not provided [RCV002032047] | Chr1:223005621 [GRCh38] Chr1:223178963 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4063T>G (p.Phe1355Val) | single nucleotide variant | not provided [RCV001998468] | Chr1:223005460 [GRCh38] Chr1:223178802 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3989C>T (p.Thr1330Met) | single nucleotide variant | not provided [RCV001973657] | Chr1:223005386 [GRCh38] Chr1:223178728 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1981C>T (p.Arg661Trp) | single nucleotide variant | not provided [RCV001936890] | Chr1:223003378 [GRCh38] Chr1:223176720 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1828G>A (p.Val610Ile) | single nucleotide variant | not provided [RCV001938166] | Chr1:223003225 [GRCh38] Chr1:223176567 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3199G>A (p.Asp1067Asn) | single nucleotide variant | not provided [RCV001905279] | Chr1:223004596 [GRCh38] Chr1:223177938 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3738C>A (p.Asp1246Glu) | single nucleotide variant | not provided [RCV002034454] | Chr1:223005135 [GRCh38] Chr1:223178477 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.539+60T>C | single nucleotide variant | not provided [RCV002034815] | Chr1:222983169 [GRCh38] Chr1:223156511 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3668A>G (p.Gln1223Arg) | single nucleotide variant | not provided [RCV001991651] | Chr1:223005065 [GRCh38] Chr1:223178407 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3194A>G (p.Asp1065Gly) | single nucleotide variant | not provided [RCV001930863] | Chr1:223004591 [GRCh38] Chr1:223177933 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3001C>T (p.Leu1001=) | single nucleotide variant | not provided [RCV002073922] | Chr1:223004398 [GRCh38] Chr1:223177740 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3873G>A (p.Gly1291=) | single nucleotide variant | not provided [RCV002134558] | Chr1:223005270 [GRCh38] Chr1:223178612 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4341T>C (p.Asp1447=) | single nucleotide variant | not provided [RCV002091683] | Chr1:223005738 [GRCh38] Chr1:223179080 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2662C>T (p.Leu888=) | single nucleotide variant | not provided [RCV002133668] | Chr1:223004059 [GRCh38] Chr1:223177401 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.509+12G>A | single nucleotide variant | not provided [RCV002212596] | Chr1:222943344 [GRCh38] Chr1:223116686 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.3625A>G (p.Thr1209Ala) | single nucleotide variant | not provided [RCV002131048] | Chr1:223005022 [GRCh38] Chr1:223178364 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.54C>T (p.Ile18=) | single nucleotide variant | DISP1-related disorder [RCV003958642]|not provided [RCV002093765] | Chr1:222942877 [GRCh38] Chr1:223116219 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4557_4559del (p.Leu1520del) | deletion | DISP1-related disorder [RCV003408108]|not provided [RCV002197166] | Chr1:223005952..223005954 [GRCh38] Chr1:223179294..223179296 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
NM_001377229.1(DISP1):c.510-4del | deletion | not provided [RCV002160170] | Chr1:222983065 [GRCh38] Chr1:223156407 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.3739G>T (p.Ala1247Ser) | single nucleotide variant | not provided [RCV002081931] | Chr1:223005136 [GRCh38] Chr1:223178478 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.509+15del | deletion | not provided [RCV002202409] | Chr1:222943345 [GRCh38] Chr1:223116687 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4074C>T (p.His1358=) | single nucleotide variant | not provided [RCV002104110] | Chr1:223005471 [GRCh38] Chr1:223178813 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4221C>T (p.Cys1407=) | single nucleotide variant | not provided [RCV003115397] | Chr1:223005618 [GRCh38] Chr1:223178960 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4054C>T (p.Pro1352Ser) | single nucleotide variant | Esophageal atresia [RCV002279875]|not specified [RCV004047544] | Chr1:223005451 [GRCh38] Chr1:223178793 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.895C>T (p.Arg299Ter) | single nucleotide variant | Holoprosencephaly 7 [RCV002289123] | Chr1:222994890 [GRCh38] Chr1:223168232 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 | copy number gain | See cases [RCV002287837] | Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
NM_001377229.1(DISP1):c.4347T>G (p.Ser1449Arg) | single nucleotide variant | not specified [RCV004316998] | Chr1:223005744 [GRCh38] Chr1:223179086 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2108G>A (p.Arg703Gln) | single nucleotide variant | not specified [RCV004323655] | Chr1:223003505 [GRCh38] Chr1:223176847 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1 | copy number loss | not provided [RCV002474859] | Chr1:221325488..225804228 [GRCh37] Chr1:1q41-42.12 |
uncertain significance |
NM_001377229.1(DISP1):c.2266C>T (p.Arg756Trp) | single nucleotide variant | not specified [RCV004207150] | Chr1:223003663 [GRCh38] Chr1:223177005 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3985A>G (p.Ile1329Val) | single nucleotide variant | not specified [RCV004085905] | Chr1:223005382 [GRCh38] Chr1:223178724 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3874G>A (p.Asp1292Asn) | single nucleotide variant | not provided [RCV003032699] | Chr1:223005271 [GRCh38] Chr1:223178613 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2119G>A (p.Glu707Lys) | single nucleotide variant | not provided [RCV002903017]|not specified [RCV004066048] | Chr1:223003516 [GRCh38] Chr1:223176858 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2902G>T (p.Val968Phe) | single nucleotide variant | not provided [RCV002806081]|not specified [RCV004064828] | Chr1:223004299 [GRCh38] Chr1:223177641 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.472C>T (p.Gln158Ter) | single nucleotide variant | not provided [RCV003032368] | Chr1:222943295 [GRCh38] Chr1:223116637 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3371C>T (p.Thr1124Ile) | single nucleotide variant | not provided [RCV002866037] | Chr1:223004768 [GRCh38] Chr1:223178110 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.7A>G (p.Met3Val) | single nucleotide variant | not provided [RCV003546904]|not specified [RCV004150014] | Chr1:222942830 [GRCh38] Chr1:223116172 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3395G>A (p.Arg1132Gln) | single nucleotide variant | DISP1-related disorder [RCV003963460]|not provided [RCV002948088] | Chr1:223004792 [GRCh38] Chr1:223178134 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3016A>G (p.Ile1006Val) | single nucleotide variant | not specified [RCV004190307] | Chr1:223004413 [GRCh38] Chr1:223177755 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3610G>A (p.Ala1204Thr) | single nucleotide variant | not specified [RCV004190308] | Chr1:223005007 [GRCh38] Chr1:223178349 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.597C>G (p.Phe199Leu) | single nucleotide variant | not specified [RCV004099198] | Chr1:222990682 [GRCh38] Chr1:223164024 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2166G>C (p.Leu722=) | single nucleotide variant | not provided [RCV002727073] | Chr1:223003563 [GRCh38] Chr1:223176905 [GRCh37] Chr1:1q41 |
likely benign |
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 | copy number loss | Orofacial cleft 2 [RCV002481175] | Chr1:228006998..228061271 [GRCh38] Chr1:1q32.2-42.13 |
association |
NM_001377229.1(DISP1):c.2652G>T (p.Glu884Asp) | single nucleotide variant | not provided [RCV002996176] | Chr1:223004049 [GRCh38] Chr1:223177391 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.510-15T>C | single nucleotide variant | not provided [RCV002618359] | Chr1:222983065 [GRCh38] Chr1:223156407 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3967G>A (p.Glu1323Lys) | single nucleotide variant | not provided [RCV002923702]|not specified [RCV004067307] | Chr1:223005364 [GRCh38] Chr1:223178706 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.342G>A (p.Ser114=) | single nucleotide variant | not provided [RCV002785345] | Chr1:222943165 [GRCh38] Chr1:223116507 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.718A>G (p.Met240Val) | single nucleotide variant | not specified [RCV004091746] | Chr1:222991574 [GRCh38] Chr1:223164916 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3274G>A (p.Val1092Met) | single nucleotide variant | not specified [RCV004181393] | Chr1:223004671 [GRCh38] Chr1:223178013 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4524dup (p.Leu1509fs) | duplication | not provided [RCV003055703] | Chr1:223005920..223005921 [GRCh38] Chr1:223179262..223179263 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4337C>A (p.Thr1446Lys) | single nucleotide variant | not provided [RCV003038771] | Chr1:223005734 [GRCh38] Chr1:223179076 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1630T>C (p.Phe544Leu) | single nucleotide variant | not specified [RCV004114065] | Chr1:223003027 [GRCh38] Chr1:223176369 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1781C>T (p.Ser594Leu) | single nucleotide variant | not provided [RCV002912611]|not specified [RCV004066023] | Chr1:223003178 [GRCh38] Chr1:223176520 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.62G>A (p.Ser21Asn) | single nucleotide variant | not provided [RCV003079519] | Chr1:222942885 [GRCh38] Chr1:223116227 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2985A>G (p.Ala995=) | single nucleotide variant | not provided [RCV002999102] | Chr1:223004382 [GRCh38] Chr1:223177724 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4189A>G (p.Arg1397Gly) | single nucleotide variant | not specified [RCV004216039] | Chr1:223005586 [GRCh38] Chr1:223178928 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1678C>T (p.Leu560Phe) | single nucleotide variant | not specified [RCV004234138] | Chr1:223003075 [GRCh38] Chr1:223176417 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3824A>C (p.Asp1275Ala) | single nucleotide variant | not provided [RCV002619987] | Chr1:223005221 [GRCh38] Chr1:223178563 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3384G>C (p.Gln1128His) | single nucleotide variant | not specified [RCV004166059] | Chr1:223004781 [GRCh38] Chr1:223178123 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.510-5_510-4dup | duplication | not provided [RCV002639198] | Chr1:222983064..222983065 [GRCh38] Chr1:223156406..223156407 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.805A>G (p.Arg269Gly) | single nucleotide variant | not specified [RCV004118334] | Chr1:222992026 [GRCh38] Chr1:223165368 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1594A>G (p.Met532Val) | single nucleotide variant | not provided [RCV002875535] | Chr1:223002991 [GRCh38] Chr1:223176333 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1826T>G (p.Phe609Cys) | single nucleotide variant | not provided [RCV002575712] | Chr1:223003223 [GRCh38] Chr1:223176565 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2697G>C (p.Arg899Ser) | single nucleotide variant | not provided [RCV002918964] | Chr1:223004094 [GRCh38] Chr1:223177436 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.988-10A>C | single nucleotide variant | not provided [RCV003085046] | Chr1:223002375 [GRCh38] Chr1:223175717 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.573G>T (p.Val191=) | single nucleotide variant | not provided [RCV002876780] | Chr1:222990658 [GRCh38] Chr1:223164000 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2705G>A (p.Gly902Glu) | single nucleotide variant | not provided [RCV003720673]|not specified [RCV004120435] | Chr1:223004102 [GRCh38] Chr1:223177444 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1455C>T (p.Thr485=) | single nucleotide variant | not provided [RCV002643652] | Chr1:223002852 [GRCh38] Chr1:223176194 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1810G>T (p.Ala604Ser) | single nucleotide variant | not provided [RCV002642493] | Chr1:223003207 [GRCh38] Chr1:223176549 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1441G>A (p.Val481Met) | single nucleotide variant | not specified [RCV004198224] | Chr1:223002838 [GRCh38] Chr1:223176180 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.890-18T>C | single nucleotide variant | not provided [RCV002929162] | Chr1:222994867 [GRCh38] Chr1:223168209 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2519T>G (p.Phe840Cys) | single nucleotide variant | not provided [RCV002851761] | Chr1:223003916 [GRCh38] Chr1:223177258 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1240G>A (p.Val414Met) | single nucleotide variant | not specified [RCV004113870] | Chr1:223002637 [GRCh38] Chr1:223175979 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2319G>A (p.Met773Ile) | single nucleotide variant | not provided [RCV003574984]|not specified [RCV004087733] | Chr1:223003716 [GRCh38] Chr1:223177058 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.583A>G (p.Met195Val) | single nucleotide variant | not provided [RCV003022436] | Chr1:222990668 [GRCh38] Chr1:223164010 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3531T>G (p.His1177Gln) | single nucleotide variant | not specified [RCV004099692] | Chr1:223004928 [GRCh38] Chr1:223178270 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.183G>A (p.Thr61=) | single nucleotide variant | DISP1-related disorder [RCV003973670]|not provided [RCV003082540] | Chr1:222943006 [GRCh38] Chr1:223116348 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.349A>G (p.Met117Val) | single nucleotide variant | not specified [RCV004085287] | Chr1:222943172 [GRCh38] Chr1:223116514 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2756C>G (p.Thr919Ser) | single nucleotide variant | not specified [RCV004112514] | Chr1:223004153 [GRCh38] Chr1:223177495 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3275T>G (p.Val1092Gly) | single nucleotide variant | not specified [RCV004148971] | Chr1:223004672 [GRCh38] Chr1:223178014 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4321C>G (p.Leu1441Val) | single nucleotide variant | not specified [RCV004193333] | Chr1:223005718 [GRCh38] Chr1:223179060 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2953C>G (p.Leu985Val) | single nucleotide variant | not specified [RCV004135340] | Chr1:223004350 [GRCh38] Chr1:223177692 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1656C>T (p.Phe552=) | single nucleotide variant | not provided [RCV002632817] | Chr1:223003053 [GRCh38] Chr1:223176395 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4331C>G (p.Ser1444Ter) | single nucleotide variant | not provided [RCV002900560] | Chr1:223005728 [GRCh38] Chr1:223179070 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.281A>G (p.His94Arg) | single nucleotide variant | not provided [RCV002937320]|not specified [RCV004614260] | Chr1:222943104 [GRCh38] Chr1:223116446 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4251T>C (p.Cys1417=) | single nucleotide variant | not provided [RCV003011281] | Chr1:223005648 [GRCh38] Chr1:223178990 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2634C>T (p.Ser878=) | single nucleotide variant | not provided [RCV002922810] | Chr1:223004031 [GRCh38] Chr1:223177373 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2610G>C (p.Leu870=) | single nucleotide variant | not provided [RCV002627378] | Chr1:223004007 [GRCh38] Chr1:223177349 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.413C>A (p.Thr138Lys) | single nucleotide variant | not specified [RCV004221328] | Chr1:222943236 [GRCh38] Chr1:223116578 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.52A>T (p.Ile18Phe) | single nucleotide variant | not provided [RCV003045177] | Chr1:222942875 [GRCh38] Chr1:223116217 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3198C>G (p.Pro1066=) | single nucleotide variant | not provided [RCV002577148] | Chr1:223004595 [GRCh38] Chr1:223177937 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1902G>A (p.Gly634=) | single nucleotide variant | not provided [RCV002577916] | Chr1:223003299 [GRCh38] Chr1:223176641 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4396C>A (p.His1466Asn) | single nucleotide variant | not specified [RCV004195532] | Chr1:223005793 [GRCh38] Chr1:223179135 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4093G>A (p.Ala1365Thr) | single nucleotide variant | not provided [RCV003047268] | Chr1:223005490 [GRCh38] Chr1:223178832 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2288G>A (p.Arg763His) | single nucleotide variant | not provided [RCV002606793] | Chr1:223003685 [GRCh38] Chr1:223177027 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3791TCT[1] (p.Phe1265del) | microsatellite | not provided [RCV002585584] | Chr1:223005186..223005188 [GRCh38] Chr1:223178528..223178530 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.56C>T (p.Ala19Val) | single nucleotide variant | not provided [RCV002588891] | Chr1:222942879 [GRCh38] Chr1:223116221 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1810G>A (p.Ala604Thr) | single nucleotide variant | not provided [RCV002606692] | Chr1:223003207 [GRCh38] Chr1:223176549 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.213C>A (p.Asn71Lys) | single nucleotide variant | not specified [RCV004313193] | Chr1:222943036 [GRCh38] Chr1:223116378 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3232C>T (p.Arg1078Cys) | single nucleotide variant | not specified [RCV004261333] | Chr1:223004629 [GRCh38] Chr1:223177971 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3128C>T (p.Ser1043Leu) | single nucleotide variant | not specified [RCV004280396] | Chr1:223004525 [GRCh38] Chr1:223177867 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2518T>C (p.Phe840Leu) | single nucleotide variant | not specified [RCV004264107] | Chr1:223003915 [GRCh38] Chr1:223177257 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1238A>G (p.Asn413Ser) | single nucleotide variant | not specified [RCV004316556] | Chr1:223002635 [GRCh38] Chr1:223175977 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1432T>C (p.Ser478Pro) | single nucleotide variant | not specified [RCV004342663] | Chr1:223002829 [GRCh38] Chr1:223176171 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1 | copy number loss | not provided [RCV003484055] | Chr1:222641390..224104993 [GRCh37] Chr1:1q41-42.11 |
uncertain significance |
NM_001377229.1(DISP1):c.2593T>A (p.Cys865Ser) | single nucleotide variant | DISP1-related disorder [RCV003420771] | Chr1:223003990 [GRCh38] Chr1:223177332 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1759G>C (p.Asp587His) | single nucleotide variant | DISP1-related disorder [RCV003412479] | Chr1:223003156 [GRCh38] Chr1:223176498 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2107C>T (p.Arg703Ter) | single nucleotide variant | DISP1-related disorder [RCV003414310] | Chr1:223003504 [GRCh38] Chr1:223176846 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.617T>G (p.Val206Gly) | single nucleotide variant | DISP1-related disorder [RCV003418784]|not provided [RCV003732572] | Chr1:222990702 [GRCh38] Chr1:223164044 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1123G>A (p.Val375Ile) | single nucleotide variant | DISP1-related disorder [RCV003410752] | Chr1:223002520 [GRCh38] Chr1:223175862 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2362A>G (p.Thr788Ala) | single nucleotide variant | DISP1-related disorder [RCV003410890] | Chr1:223003759 [GRCh38] Chr1:223177101 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1282C>G (p.Leu428Val) | single nucleotide variant | not provided [RCV003831733] | Chr1:223002679 [GRCh38] Chr1:223176021 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4202C>T (p.Ser1401Leu) | single nucleotide variant | not provided [RCV003739626] | Chr1:223005599 [GRCh38] Chr1:223178941 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.496A>G (p.Ile166Val) | single nucleotide variant | not provided [RCV003849172] | Chr1:222943319 [GRCh38] Chr1:223116661 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.840A>G (p.Arg280=) | single nucleotide variant | not provided [RCV003881067] | Chr1:222992061 [GRCh38] Chr1:223165403 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.179G>T (p.Gly60Val) | single nucleotide variant | not provided [RCV003490688] | Chr1:222943002 [GRCh38] Chr1:223116344 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.882C>T (p.Asp294=) | single nucleotide variant | not provided [RCV003881517] | Chr1:222992103 [GRCh38] Chr1:223165445 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.807_810dup (p.Ser271fs) | duplication | not provided [RCV003490690] | Chr1:222992026..222992027 [GRCh38] Chr1:223165368..223165369 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.664-2A>G | single nucleotide variant | not provided [RCV003690055] | Chr1:222991518 [GRCh38] Chr1:223164860 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3454A>G (p.Ser1152Gly) | single nucleotide variant | DISP1-related disorder [RCV003954231]|not provided [RCV003544676] | Chr1:223004851 [GRCh38] Chr1:223178193 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
NM_001377229.1(DISP1):c.3228G>C (p.Leu1076=) | single nucleotide variant | not provided [RCV003577316] | Chr1:223004625 [GRCh38] Chr1:223177967 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1472T>C (p.Ile491Thr) | single nucleotide variant | not provided [RCV003490689] | Chr1:223002869 [GRCh38] Chr1:223176211 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2377G>A (p.Val793Met) | single nucleotide variant | not provided [RCV003545421]|not specified [RCV004369020] | Chr1:223003774 [GRCh38] Chr1:223177116 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1659A>G (p.Glu553=) | single nucleotide variant | not provided [RCV003878279] | Chr1:223003056 [GRCh38] Chr1:223176398 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3135C>T (p.Ala1045=) | single nucleotide variant | not provided [RCV003833983] | Chr1:223004532 [GRCh38] Chr1:223177874 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.510-16C>T | single nucleotide variant | not provided [RCV003832182] | Chr1:222983064 [GRCh38] Chr1:223156406 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4286G>C (p.Gly1429Ala) | single nucleotide variant | not provided [RCV003833493] | Chr1:223005683 [GRCh38] Chr1:223179025 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4467G>T (p.Val1489=) | single nucleotide variant | not provided [RCV003559638] | Chr1:223005864 [GRCh38] Chr1:223179206 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.229A>C (p.Met77Leu) | single nucleotide variant | not provided [RCV003833600] | Chr1:222943052 [GRCh38] Chr1:223116394 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1925T>C (p.Leu642Ser) | single nucleotide variant | not provided [RCV003674048] | Chr1:223003322 [GRCh38] Chr1:223176664 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3367G>A (p.Ala1123Thr) | single nucleotide variant | not provided [RCV003668996] | Chr1:223004764 [GRCh38] Chr1:223178106 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2016G>A (p.Lys672=) | single nucleotide variant | not provided [RCV003814061] | Chr1:223003413 [GRCh38] Chr1:223176755 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2558T>C (p.Ile853Thr) | single nucleotide variant | not provided [RCV003839625] | Chr1:223003955 [GRCh38] Chr1:223177297 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2536C>A (p.Gln846Lys) | single nucleotide variant | not provided [RCV003558934] | Chr1:223003933 [GRCh38] Chr1:223177275 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3296C>T (p.Pro1099Leu) | single nucleotide variant | not provided [RCV003724207] | Chr1:223004693 [GRCh38] Chr1:223178035 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1223A>T (p.Gln408Leu) | single nucleotide variant | not provided [RCV003837114] | Chr1:223002620 [GRCh38] Chr1:223175962 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2302T>C (p.Tyr768His) | single nucleotide variant | not provided [RCV003838708] | Chr1:223003699 [GRCh38] Chr1:223177041 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2118C>T (p.Phe706=) | single nucleotide variant | not provided [RCV003724925] | Chr1:223003515 [GRCh38] Chr1:223176857 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.4215G>T (p.Thr1405=) | single nucleotide variant | not provided [RCV003861405] | Chr1:223005612 [GRCh38] Chr1:223178954 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1332T>C (p.Tyr444=) | single nucleotide variant | not provided [RCV003844631] | Chr1:223002729 [GRCh38] Chr1:223176071 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2930A>C (p.Gln977Pro) | single nucleotide variant | not provided [RCV003550805] | Chr1:223004327 [GRCh38] Chr1:223177669 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.34_37del (p.Val11_Val12insTer) | deletion | not provided [RCV003706213] | Chr1:222942857..222942860 [GRCh38] Chr1:223116199..223116202 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2198C>T (p.Ala733Val) | single nucleotide variant | not provided [RCV003708147] | Chr1:223003595 [GRCh38] Chr1:223176937 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.988-6C>T | single nucleotide variant | not provided [RCV003733180] | Chr1:223002379 [GRCh38] Chr1:223175721 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.509+11C>G | single nucleotide variant | not provided [RCV003853255] | Chr1:222943343 [GRCh38] Chr1:223116685 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3366C>T (p.Phe1122=) | single nucleotide variant | not provided [RCV003722040] | Chr1:223004763 [GRCh38] Chr1:223178105 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3930C>T (p.Asn1310=) | single nucleotide variant | not provided [RCV003737187] | Chr1:223005327 [GRCh38] Chr1:223178669 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.3830A>T (p.Tyr1277Phe) | single nucleotide variant | not provided [RCV003729710] | Chr1:223005227 [GRCh38] Chr1:223178569 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2152C>T (p.Arg718Cys) | single nucleotide variant | not provided [RCV003557315] | Chr1:223003549 [GRCh38] Chr1:223176891 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4537G>A (p.Glu1513Lys) | single nucleotide variant | not provided [RCV003677416] | Chr1:223005934 [GRCh38] Chr1:223179276 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1398C>T (p.Asn466=) | single nucleotide variant | not provided [RCV003684194] | Chr1:223002795 [GRCh38] Chr1:223176137 [GRCh37] Chr1:1q41 |
likely benign |
GRCh37/hg19 1q41(chr1:222698623-224065782)x3 | copy number gain | not specified [RCV003986209] | Chr1:222698623..224065782 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2557A>G (p.Ile853Val) | single nucleotide variant | not provided [RCV003869794] | Chr1:223003954 [GRCh38] Chr1:223177296 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3125T>C (p.Ile1042Thr) | single nucleotide variant | not provided [RCV003853787] | Chr1:223004522 [GRCh38] Chr1:223177864 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4227C>T (p.Pro1409=) | single nucleotide variant | not provided [RCV003823174] | Chr1:223005624 [GRCh38] Chr1:223178966 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1305C>T (p.Asp435=) | single nucleotide variant | not provided [RCV003712373] | Chr1:223002702 [GRCh38] Chr1:223176044 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2340C>T (p.Gly780=) | single nucleotide variant | not provided [RCV003720585] | Chr1:223003737 [GRCh38] Chr1:223177079 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.2066A>G (p.Gln689Arg) | single nucleotide variant | not provided [RCV003728907] | Chr1:223003463 [GRCh38] Chr1:223176805 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4217G>C (p.Cys1406Ser) | single nucleotide variant | not provided [RCV003728176] | Chr1:223005614 [GRCh38] Chr1:223178956 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3179A>T (p.Tyr1060Phe) | single nucleotide variant | not provided [RCV003568873] | Chr1:223004576 [GRCh38] Chr1:223177918 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2699G>A (p.Ser900Asn) | single nucleotide variant | not provided [RCV003551350] | Chr1:223004096 [GRCh38] Chr1:223177438 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1440C>T (p.Gly480=) | single nucleotide variant | not provided [RCV003735993] | Chr1:223002837 [GRCh38] Chr1:223176179 [GRCh37] Chr1:1q41 |
benign |
NM_001377229.1(DISP1):c.1207_1208delinsAT (p.Ala403Ile) | indel | not provided [RCV003705504] | Chr1:223002604..223002605 [GRCh38] Chr1:223175946..223175947 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4349T>G (p.Val1450Gly) | single nucleotide variant | not provided [RCV003556760] | Chr1:223005746 [GRCh38] Chr1:223179088 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1 | copy number loss | not provided [RCV004442774] | Chr1:216147522..226765691 [GRCh37] Chr1:1q41-42.12 |
pathogenic |
NM_001377229.1(DISP1):c.3090G>T (p.Leu1030=) | single nucleotide variant | DISP1-related disorder [RCV003899807] | Chr1:223004487 [GRCh38] Chr1:223177829 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1464G>A (p.Glu488=) | single nucleotide variant | DISP1-related disorder [RCV003971875] | Chr1:223002861 [GRCh38] Chr1:223176203 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1694T>C (p.Ile565Thr) | single nucleotide variant | not specified [RCV004375895] | Chr1:223003091 [GRCh38] Chr1:223176433 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1822A>G (p.Met608Val) | single nucleotide variant | not specified [RCV004375896] | Chr1:223003219 [GRCh38] Chr1:223176561 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1982G>C (p.Arg661Pro) | single nucleotide variant | not specified [RCV004375899] | Chr1:223003379 [GRCh38] Chr1:223176721 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4214C>T (p.Thr1405Met) | single nucleotide variant | not specified [RCV004375902] | Chr1:223005611 [GRCh38] Chr1:223178953 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4352A>C (p.Asn1451Thr) | single nucleotide variant | not specified [RCV004375903] | Chr1:223005749 [GRCh38] Chr1:223179091 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4432A>G (p.Asn1478Asp) | single nucleotide variant | not specified [RCV004375904] | Chr1:223005829 [GRCh38] Chr1:223179171 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2270C>T (p.Ser757Leu) | single nucleotide variant | not specified [RCV004375901] | Chr1:223003667 [GRCh38] Chr1:223177009 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4550A>C (p.Glu1517Ala) | single nucleotide variant | not specified [RCV004375905] | Chr1:223005947 [GRCh38] Chr1:223179289 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1910C>T (p.Ala637Val) | single nucleotide variant | not specified [RCV004375898] | Chr1:223003307 [GRCh38] Chr1:223176649 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2050T>C (p.Trp684Arg) | single nucleotide variant | not specified [RCV004375900] | Chr1:223003447 [GRCh38] Chr1:223176789 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.830G>A (p.Arg277Lys) | single nucleotide variant | not specified [RCV004375908] | Chr1:222992051 [GRCh38] Chr1:223165393 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1916C>T (p.Thr639Ile) | single nucleotide variant | Holoprosencephaly sequence [RCV003985217] | Chr1:223003313 [GRCh38] Chr1:223176655 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3906T>G (p.Thr1302=) | single nucleotide variant | DISP1-related disorder [RCV003964732] | Chr1:223005303 [GRCh38] Chr1:223178645 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1866C>T (p.Asn622=) | single nucleotide variant | DISP1-related disorder [RCV003984639] | Chr1:223003263 [GRCh38] Chr1:223176605 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.81C>G (p.Pro27=) | single nucleotide variant | DISP1-related disorder [RCV003969700] | Chr1:222942904 [GRCh38] Chr1:223116246 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1530C>T (p.Ala510=) | single nucleotide variant | DISP1-related disorder [RCV003949816] | Chr1:223002927 [GRCh38] Chr1:223176269 [GRCh37] Chr1:1q41 |
likely benign |
NM_001377229.1(DISP1):c.1250A>G (p.Lys417Arg) | single nucleotide variant | not specified [RCV004375893] | Chr1:223002647 [GRCh38] Chr1:223175989 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.182C>T (p.Thr61Met) | single nucleotide variant | not specified [RCV004375897] | Chr1:222943005 [GRCh38] Chr1:223116347 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2569A>C (p.Lys857Gln) | single nucleotide variant | not specified [RCV004616458] | Chr1:223003966 [GRCh38] Chr1:223177308 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.2663T>G (p.Leu888Arg) | single nucleotide variant | not specified [RCV004616457] | Chr1:223004060 [GRCh38] Chr1:223177402 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1147C>T (p.Arg383Trp) | single nucleotide variant | not specified [RCV004616460] | Chr1:223002544 [GRCh38] Chr1:223175886 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.1118G>A (p.Arg373Gln) | single nucleotide variant | not specified [RCV004616461] | Chr1:223002515 [GRCh38] Chr1:223175857 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.4283G>A (p.Ser1428Asn) | single nucleotide variant | not specified [RCV004616459] | Chr1:223005680 [GRCh38] Chr1:223179022 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_001377229.1(DISP1):c.3934G>A (p.Val1312Met) | single nucleotide variant | not specified [RCV004616456] | Chr1:223005331 [GRCh38] Chr1:223178673 [GRCh37] Chr1:1q41 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH98328 |
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DISPA__1191 |
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CHLC.GGAA11H01 |
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MARC_17261-17262:1024683436:1 |
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D11S3114 |
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D15S1477 |
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RH80030 |
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D8S2279 |
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D11S3745 |
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RefSeq Transcripts | NG_009243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001350630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001369594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001377228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001377229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_032890 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165110 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165116 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165117 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165136 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165137 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165140 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165142 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165143 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165144 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165145 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165149 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165154 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_165157 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006711592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006711594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011510072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011510073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011510074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011510075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017002611 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017002612 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC093152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK023679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK056569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK098669 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK125728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL133092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL392172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL513544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC007734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC011542 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC107762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA062334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA756409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY128909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OA985615 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OA985616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OA985617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000284476 ⟹ ENSP00000284476 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000360254 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000420335 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000426045 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000434872 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000435378 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000439440 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000442171 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000444858 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000450784 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000457636 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000482856 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000495684 ⟹ ENSP00000502067 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000654502 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000657452 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000661663 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000663328 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000669958 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000674709 ⟹ ENSP00000502092 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000674736 ⟹ ENSP00000501873 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000675039 ⟹ ENSP00000501574 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000675850 ⟹ ENSP00000502357 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000675961 ⟹ ENSP00000501808 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000676139 ⟹ ENSP00000502496 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000676303 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000676412 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001350630 ⟹ NP_001337559 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001369594 ⟹ NP_001356523 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001377228 ⟹ NP_001364157 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001377229 ⟹ NP_001364158 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_032890 ⟹ NP_116279 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165109 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165110 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165111 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165112 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165113 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165114 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165115 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165116 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165117 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165118 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165119 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165120 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165121 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165122 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165123 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165124 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165125 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165126 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165127 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165128 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165129 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165130 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165131 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165132 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165133 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165134 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165135 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165136 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165137 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165138 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165139 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165140 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165141 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165142 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165143 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165144 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165145 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_165146 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |