Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000489.4(ATRX):c.7366_7367delAT (p.Met2456Glufs) | 546 | ATRX | Likely pathogenic | 797044723 | RCV000177828; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76763941 | 76763942 | NM_000489.4:c.7366_7367delAT | NP_000480.3:p.Met2456Glufs | NC_000023.10:g.76763941_76763942delAT | - | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.7162G>T (p.Glu2388Ter) | 546 | ATRX | Pathogenic | 122445100 | RCV000012495; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76776304 | 76776304 | NM_000489.4:c.7162G>T | NP_000480.3:p.Glu2388Ter | NC_000023.10:g.76776304C>A | OMIM Allelic Variant:300032.0009 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.7156C>T (p.Arg2386Ter) | 546 | ATRX | Pathogenic | 122445099 | RCV000012494; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76776310 | 76776310 | NM_000489.4:c.7156C>T | NP_000480.3:p.Arg2386Ter | NC_000023.10:g.76776310G>A | OMIM Allelic Variant:300032.0008 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.6718C>T (p.Leu2240Phe) | 546 | ATRX | not provided | 199474698 | RCV000144410; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76778861 | 76778861 | NM_000489.4:c.6718C>T | NP_000480.3:p.Leu2240Phe | NC_000023.10:g.76778861G>A | - | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.6488A>G (p.Tyr2163Cys) | 546 | ATRX | Pathogenic | 122445098 | RCV000012493; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76814156 | 76814156 | NM_000489.4:c.6488A>G | NP_000480.3:p.Tyr2163Cys | NC_000023.10:g.76814156T>C | OMIM Allelic Variant:300032.0007 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.6392G>A (p.Arg2131Gln) | 546 | ATRX | Pathogenic | 122445101 | RCV000012497; RCV000199096; | N | MedGen:C0796003,OMIM:309580,ORPHA:93972; MedGen:C1845055,OMIM:301040,ORPHA:847; MedGen:C4016452 | X | 76814252 | 76814252 | NM_000489.4:c.6392G>A | NP_000480.3:p.Arg2131Gln | NC_000023.10:g.76814252C>T | OMIM Allelic Variant:300032.0011 | C1845055 301040 ATR-X syndrome; C0796003 309580 Mental retardation-hypotonic facies syndrome X-linked, 1; C4016452 Mental retardation-hypotonic facies syndrome, X-linked | | |
NM_000489.4(ATRX):c.6250T>C (p.Tyr2084His) | 546 | ATRX | Pathogenic | 122445097 | RCV000012492; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76829791 | 76829791 | NM_000489.4:c.6250T>C | NP_000480.3:p.Tyr2084His | NC_000023.10:g.76829791A>G | OMIM Allelic Variant:300032.0006 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.6104A>T (p.Asp2035Val) | 546 | ATRX | Pathogenic | 122445096 | RCV000012491; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76849172 | 76849172 | NM_000489.4:c.6104A>T | NP_000480.3:p.Asp2035Val | NC_000023.10:g.76849172T>A | OMIM Allelic Variant:300032.0005 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) | 546 | ATRX | Benign;Pathogenic | 45439799 | RCV000012490; RCV000078966; | N | MedGen:C1845055,OMIM:301040,ORPHA:847; MedGen:CN169374 | X | 76856021 | 76856021 | NM_000489.4:c.5579A>G | NP_000480.3:p.Asn1860Ser | NC_000023.10:g.76856021T>C | HGMD:CM950125,OMIM Allelic Variant:300032.0004 | C1845055 301040 ATR-X syndrome; CN169374 not specified | | |
NM_000489.4(ATRX):c.5225G>A (p.Arg1742Lys) | 546 | ATRX | Pathogenic | 122445104 | RCV000012502; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76875910 | 76875910 | NM_000489.4:c.5225G>A | NP_000480.3:p.Arg1742Lys | NC_000023.10:g.76875910C>T | OMIM Allelic Variant:300032.0016 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.4950G>T (p.Lys1650Asn) | 546 | ATRX | Pathogenic | 122445095 | RCV000012489; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76889060 | 76889060 | NM_000489.4:c.4950G>T | NP_000480.3:p.Lys1650Asn | NC_000023.10:g.76889060C>A | OMIM Allelic Variant:300032.0003 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.4862C>T (p.Thr1621Met) | 546 | ATRX | Pathogenic | 122445106 | RCV000012505; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76889148 | 76889148 | NM_000489.4:c.4862C>T | NP_000480.3:p.Thr1621Met | NC_000023.10:g.76889148G>A | OMIM Allelic Variant:300032.0019 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.4840T>C (p.Cys1614Arg) | 546 | ATRX | Pathogenic | 122445094 | RCV000012488; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76889170 | 76889170 | NM_000489.4:c.4840T>C | NP_000480.3:p.Cys1614Arg | NC_000023.10:g.76889170A>G | OMIM Allelic Variant:300032.0002 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.4826A>G (p.His1609Arg) | 546 | ATRX | Pathogenic | 122445093 | RCV000012487; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76889184 | 76889184 | NM_000489.4:c.4826A>G | NP_000480.3:p.His1609Arg | NC_000023.10:g.76889184T>C | OMIM Allelic Variant:300032.0001 | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.4626_4631delTGAAGA (p.Asp1542_Glu1543del) | 546 | ATRX | Likely pathogenic | 797045406 | RCV000193225; | N | MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76891474 | 76891479 | NM_000489.4:c.4626_4631delTGAAGA | NP_000480.3:p.Asp1542_Glu1543del | NC_000023.10:g.76891474_76891479delTCTTCA | - | C1845055 301040 ATR-X syndrome | | |
NM_000489.4(ATRX):c.736C>T (p.Arg246Cys) | 546 | ATRX | Pathogenic | 122445105 | RCV000012501; RCV000078972; RCV000190796; | N | MedGen:C0950123; MedGen:C1845055,OMIM:301040,ORPHA:847; MedGen:CN221809 | X | 76940012 | 76940012 | NM_000489.4:c.736C>T | NP_000480.3:p.Arg246Cys | NC_000023.10:g.76940012G>A | OMIM Allelic Variant:300032.0015,OMIM Allelic Variant:300032.0018 | C1845055 301040 ATR-X syndrome; C0950123 Inborn genetic diseases; CN221809 not provided | | |
NM_000489.4(ATRX):c.568C>G (p.Pro190Ala) | 546 | ATRX | Likely pathogenic;Pathogenic | 122445103 | RCV000012500; RCV000197579; | N | MedGen:C0796003,OMIM:309580,ORPHA:93972; MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76944337 | 76944337 | NM_000489.4:c.568C>G | NP_000480.3:p.Pro190Ala | NC_000023.10:g.76944337G>C | OMIM Allelic Variant:300032.0014 | C1845055 301040 ATR-X syndrome; C0796003 309580 Mental retardation-hypotonic facies syndrome X-linked, 1 | | |
NM_000489.4(ATRX):c.109C>T (p.Arg37Ter) | 546 | ATRX | Pathogenic | 122445108 | RCV000148028; RCV000012508; | N | MedGen:C1845055,OMIM:301040,ORPHA:847; MedGen:C4016452 | X | 76972632 | 76972632 | NM_000489.4:c.109C>T | NP_000480.3:p.Arg37Ter | NC_000023.10:g.76972632G>A | OMIM Allelic Variant:300032.0022 | C1845055 301040 ATR-X syndrome; C4016452 Mental retardation-hypotonic facies syndrome, X-linked | | |