Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001844.4(COL2A1):c.3791_3794delACCA (p.Asn1264Argfs) | 1280 | COL2A1 | Pathogenic | 794727748 | RCV000179086; | N | MedGen:C2020284,OMIM:108300 | 12 | 48369192 | 48369195 | NM_001844.4:c.3791_3794delACCA | NP_001835.3:p.Asn1264Argfs | NC_000012.11:g.48369192_48369195delTGGT | - | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.3138delT (p.Gly1047Alafs) | 1280 | COL2A1 | Pathogenic | 121912873 | RCV000018909; | N | MedGen:C2020284,OMIM:108300 | 12 | 48371410 | 48371410 | NM_001844.4:c.3138delT | NP_001835.3:p.Gly1047Alafs | NC_000012.11:g.48371410delA | OMIM Allelic Variant:120140.0015 | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.3106C>T (p.Arg1036Ter) | 1280 | COL2A1 | Pathogenic | 748459670 | RCV000178552; | N | MedGen:C2020284,OMIM:108300 | 12 | 48371798 | 48371798 | NM_001844.4:c.3106C>T | NP_001835.3:p.Arg1036Ter | NC_000012.11:g.48371798G>A | - | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.2794C>T (p.Arg932Ter) | 1280 | COL2A1 | Pathogenic | 121912866 | RCV000018899; | N | MedGen:C2020284,OMIM:108300 | 12 | 48372481 | 48372481 | NM_001844.4:c.2794C>T | NP_001835.3:p.Arg932Ter | NC_000012.11:g.48372481G>A | OMIM Allelic Variant:120140.0005 | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.2530C>T (p.Gln844Ter) | 1280 | COL2A1 | Pathogenic | 794727607 | RCV000177979; | N | MedGen:C2020284,OMIM:108300 | 12 | 48374432 | 48374432 | NM_001844.4:c.2530C>T | NP_001835.3:p.Gln844Ter | NC_000012.11:g.48374432G>A | - | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.2428G>T (p.Gly810Cys) | 1280 | COL2A1 | Likely pathogenic | 794727596 | RCV000177904; | N | MedGen:C2020284,OMIM:108300 | 12 | 48375161 | 48375161 | NM_001844.4:c.2428G>T | NP_001835.3:p.Gly810Cys | NC_000012.11:g.48375161C>A | - | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.1999C>T (p.Leu667Phe) | 1280 | COL2A1 | Pathogenic | 121912885 | RCV000144727; RCV000018927; | N | MedGen:C1836080,OMIM:609508,ORPHA:209867; MedGen:C2020284,OMIM:108300 | 12 | 48377218 | 48377218 | NM_001844.4:c.1999C>T | NP_001835.3:p.Leu667Phe | NC_000012.11:g.48377218G>A | OMIM Allelic Variant:120140.0034 | C2020284 108300 Stickler syndrome type 1; C1836080 609508 Stickler syndrome, type I, nonsyndromic ocular | | |
NM_001844.4(COL2A1):c.1957C>T (p.Arg653Ter) | 1280 | COL2A1 | Pathogenic | 121912893 | RCV000018938; RCV000018939; | N | MedGen:C1836081; MedGen:C2020284,OMIM:108300 | 12 | 48377504 | 48377504 | NM_001844.4:c.1957C>T | NP_001835.3:p.Arg653Ter | NC_000012.11:g.48377504G>A | OMIM Allelic Variant:120140.0045 | C1836081 Rhegmatogenous retinal detachment, autosomal dominant; C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.1861G>A (p.Gly621Arg) | 1280 | COL2A1 | Likely pathogenic | 794727462 | RCV000176855; | N | MedGen:C2020284,OMIM:108300 | 12 | 48378355 | 48378355 | NM_001844.4:c.1861G>A | NP_001835.3:p.Gly621Arg | NC_000012.11:g.48378355C>T | - | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.1693C>T (p.Arg565Cys) | 1280 | COL2A1 | Pathogenic | 121912884 | RCV000018926; | N | MedGen:C2020284,OMIM:108300 | 12 | 48379358 | 48379358 | NM_001844.4:c.1693C>T | NP_001835.3:p.Arg565Cys | NC_000012.11:g.48379358G>A | OMIM Allelic Variant:120140.0033 | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.1420-2A>C | 1280 | COL2A1 | Pathogenic | 794727377 | RCV000176387; RCV000176386; | N | MedGen:C0796173,OMIM:271700,ORPHA:1856; MedGen:C2020284,OMIM:108300 | 12 | 48380228 | 48380228 | NM_001844.4:c.1420-2A>C | | NC_000012.11:g.48380228T>G | - | C0796173 271700 Spondyloperipheral dysplasia; C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.1214delG (p.Gly405Valfs) | 1280 | COL2A1 | Pathogenic | 794727225 | RCV000175420; | N | MedGen:C2020284,OMIM:108300 | 12 | 48381401 | 48381401 | NM_001844.4:c.1214delG | NP_001835.3:p.Gly405Valfs | NC_000012.11:g.48381401delC | - | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.1056delC (p.Ala353Glnfs) | 1280 | COL2A1 | Pathogenic | 794727185 | RCV000175163; | N | MedGen:C2020284,OMIM:108300 | 12 | 48383556 | 48383556 | NM_001844.4:c.1056delC | NP_001835.3:p.Ala353Glnfs | NC_000012.11:g.48383556delG | - | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.1052delG (p.Gly351Alafs) | 1280 | COL2A1 | Pathogenic | 398123628 | RCV000175162; RCV000079723; | N | MedGen:C2020284,OMIM:108300; MedGen:CN221809 | 12 | 48383560 | 48383560 | NM_001844.4:c.1052delG | NP_001835.3:p.Gly351Alafs | NC_000012.11:g.48383560delC | - | CN221809 not provided; C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.908G>A (p.Gly303Asp) | 1280 | COL2A1 | Pathogenic | 121912877 | RCV000174720; RCV000018914; | N | MedGen:C0265279,OMIM:156550,ORPHA:485,SNOMED CT:53974002; MedGen:C2020284,OMIM:108300 | 12 | 48387608 | 48387608 | NM_001844.4:c.908G>A | NP_001835.3:p.Gly303Asp | NC_000012.11:g.48387608C>T | OMIM Allelic Variant:120140.0020 | C0265279 156550 Kniest dysplasia; C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.762+1G>A | 1280 | COL2A1 | Pathogenic | 794727026 | RCV000174056; | N | MedGen:C2020284,OMIM:108300 | 12 | 48389037 | 48389037 | NM_001844.4:c.762+1G>A | | NC_000012.11:g.48389037C>T | - | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.625C>T (p.Arg209Ter) | 1280 | COL2A1 | Pathogenic | 121912869 | RCV000018904; | N | MedGen:C2020284,OMIM:108300 | 12 | 48389687 | 48389687 | NM_001844.4:c.625C>T | NP_001835.3:p.Arg209Ter | NC_000012.11:g.48389687G>A | OMIM Allelic Variant:120140.0010 | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.258C>A (p.Cys86Ter) | 1280 | COL2A1 | Pathogenic | 794727261 | RCV000175700; | N | MedGen:C2020284,OMIM:108300 | 12 | 48393736 | 48393736 | NM_001844.4:c.258C>A | NP_001835.3:p.Cys86Ter | NC_000012.11:g.48393736G>T | - | C2020284 108300 Stickler syndrome type 1 | | |
NM_001844.4(COL2A1):c.85+1G>C | 1280 | COL2A1 | Pathogenic | 727503882 | RCV000173262; RCV000153078; | N | MedGen:C2020284,OMIM:108300; MedGen:CN221809 | 12 | 48398019 | 48398019 | NM_001844.4:c.85+1G>C | | NC_000012.11:g.48398019C>G | - | CN221809 not provided; C2020284 108300 Stickler syndrome type 1 | | |