Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001145320.1(ADAMTSL2):c.215G>A (p.Arg72Gln) | 9719 | ADAMTSL2 | Pathogenic | 387907064 | RCV000023933; | N | MedGen:CN074292,OMIM:231050,SNOMED CT:28557005 | 9 | 136402651 | 136402651 | NM_001145320.1:c.215G>A | NP_001138792.1:p.Arg72Gln | NC_000009.11:g.136402651G>A | OMIM Allelic Variant:612277.0006 | CN074292 231050 Geleophysic dysplasia 1 | | |
NM_001145320.1(ADAMTSL2):c.338G>A (p.Arg113His) | 9719 | ADAMTSL2 | Pathogenic | 113994122 | RCV000000729; | N | MedGen:CN074292,OMIM:231050,SNOMED CT:28557005 | 9 | 136404921 | 136404921 | NM_001145320.1:c.338G>A | NP_001138792.1:p.Arg113His | NC_000009.11:g.136404921G>A | OMIM Allelic Variant:612277.0002 | CN074292 231050 Geleophysic dysplasia 1 | | |
NM_001145320.1(ADAMTSL2):c.340G>A (p.Glu114Lys) | 9719 | ADAMTSL2 | Pathogenic | 113994123 | RCV000000730; | N | MedGen:CN074292,OMIM:231050,SNOMED CT:28557005 | 9 | 136404923 | 136404923 | NM_001145320.1:c.340G>A | NP_001138792.1:p.Glu114Lys | NC_000009.11:g.136404923G>A | OMIM Allelic Variant:612277.0003 | CN074292 231050 Geleophysic dysplasia 1 | | |
NM_001145320.1(ADAMTSL2):c.440C>T (p.Pro147Leu) | 9719 | ADAMTSL2 | Pathogenic | 113994121 | RCV000000728; | N | MedGen:CN074292,OMIM:231050,SNOMED CT:28557005 | 9 | 136405747 | 136405747 | NM_001145320.1:c.440C>T | NP_001138792.1:p.Pro147Leu | NC_000009.11:g.136405747C>T | OMIM Allelic Variant:612277.0001 | CN074292 231050 Geleophysic dysplasia 1 | | |
NM_001145320.1(ADAMTSL2):c.661C>T (p.Arg221Cys) | 9719 | ADAMTSL2 | Pathogenic | 387907065 | RCV000023934; | N | MedGen:CN074292,OMIM:231050,SNOMED CT:28557005 | 9 | 136406102 | 136406102 | NM_001145320.1:c.661C>T | NP_001138792.1:p.Arg221Cys | NC_000009.11:g.136406102C>T | OMIM Allelic Variant:612277.0007 | CN074292 231050 Geleophysic dysplasia 1 | | |
NM_001145320.1(ADAMTSL2):c.2431G>A (p.Gly811Arg) | 9719 | ADAMTSL2 | Pathogenic | 113994124 | RCV000000731; | N | MedGen:CN074292,OMIM:231050,SNOMED CT:28557005 | 9 | 136435468 | 136435468 | NM_001145320.1:c.2431G>A | NP_001138792.1:p.Gly811Arg | NC_000009.11:g.136435468G>A | OMIM Allelic Variant:612277.0004 | CN074292 231050 Geleophysic dysplasia 1 | | |
NM_001145320.1(ADAMTSL2):c.2586G>A (p.Trp862Ter) | 9719 | ADAMTSL2 | Pathogenic | 113994125 | RCV000000732; | N | MedGen:CN074292,OMIM:231050,SNOMED CT:28557005 | 9 | 136435623 | 136435623 | NM_001145320.1:c.2586G>A | NP_001138792.1:p.Trp862Ter | NC_000009.11:g.136435623G>A | OMIM Allelic Variant:612277.0005 | CN074292 231050 Geleophysic dysplasia 1 | | |