Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NG_027746.2:g.115161_127743del12583 | 285590 | SH3PXD2B | Pathogenic | -1 | RCV000201028; | N | MedGen:C1855305,OMIM:249420,ORPHA:137834 | 5 | 171758785 | 171771367 | - | - | | OMIM Allelic Variant:613293.0006 | C1855305 249420 Frank Ter Haar syndrome | | |
NM_001017995.2(SH3PXD2B):c.969delG (p.Arg324Glyfs) | 285590 | SH3PXD2B | Pathogenic | 794728006 | RCV000000212; | N | MedGen:C1855305,OMIM:249420,ORPHA:137834 | 5 | 171777410 | 171777410 | NM_001017995.2:c.969delG | NP_001017995.1:p.Arg324Glyfs | NC_000005.9:g.171777410delC | OMIM Allelic Variant:613293.0002 | C1855305 249420 Frank Ter Haar syndrome | | |
NM_001017995.2(SH3PXD2B):c.401+1G>A | 285590 | SH3PXD2B | Pathogenic | 367543284 | RCV000201206; RCV000049342; | N | MedGen:C1855305,OMIM:249420,ORPHA:137834; MedGen:C1859406,OMIM:211170,ORPHA:1266 | 5 | 171809039 | 171809039 | NM_001017995.2:c.401+1G>A | | NC_000005.9:g.171809039C>T | OMIM Allelic Variant:613293.0005 | C1859406 211170 Borrone Di Rocco Crovato syndrome; C1855305 249420 Frank Ter Haar syndrome | | |
NM_001017995.2(SH3PXD2B):c.147dupT (p.Asp50Terfs) | 285590 | SH3PXD2B | Pathogenic | 794728005 | RCV000000211; | N | MedGen:C1855305,OMIM:249420,ORPHA:137834 | 5 | 171849429 | 171849429 | NM_001017995.2:c.147dupT | NP_001017995.1:p.Asp50Terfs | NC_000005.9:g.171849429dupA | OMIM Allelic Variant:613293.0001 | C1855305 249420 Frank Ter Haar syndrome | | |
NM_001017995.2(SH3PXD2B):c.127C>T (p.Arg43Trp) | 285590 | SH3PXD2B | Pathogenic | 267607046 | RCV000000213; | N | MedGen:C1855305,OMIM:249420,ORPHA:137834 | 5 | 171849449 | 171849449 | NM_001017995.2:c.127C>T | NP_001017995.1:p.Arg43Trp | NC_000005.9:g.171849449G>A | OMIM Allelic Variant:613293.0003 | C1855305 249420 Frank Ter Haar syndrome | | |
NM_001017995.2(SH3PXD2B):c.76-2A>C | 285590 | SH3PXD2B | Pathogenic | 775217258 | RCV000000214; | N | MedGen:C1855305,OMIM:249420,ORPHA:137834 | 5 | 171849502 | 171849502 | NM_001017995.2:c.76-2A>C | | NC_000005.9:g.171849502T>G | OMIM Allelic Variant:613293.0004 | C1855305 249420 Frank Ter Haar syndrome | | |