Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001129765.1(NSDHL):c.262C>T (p.Arg88Ter) | 50814 | NSDHL | Pathogenic | 104894903 | RCV000012182; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152018962 | 152018962 | NM_001129765.1:c.262C>T | NP_001123237.1:p.Arg88Ter | NC_000023.10:g.152018962C>T | OMIM Allelic Variant:300275.0004 | C0265267 308050 Child syndrome | | |
NM_001129765.1(NSDHL):c.314C>T (p.Ala105Val) | 50814 | NSDHL | Pathogenic | 104894909 | RCV000012179; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152027360 | 152027360 | NM_001129765.1:c.314C>T | NP_001123237.1:p.Ala105Val | NC_000023.10:g.152027360C>T | OMIM Allelic Variant:300275.0001 | C0265267 308050 Child syndrome | | |
NM_001129765.1(NSDHL):c.370G>A (p.Gly124Ser) | 50814 | NSDHL | Pathogenic | 137853862 | RCV000020429; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152027416 | 152027416 | NM_001129765.1:c.370G>A | NP_001123237.1:p.Gly124Ser | NC_000023.10:g.152027416G>A | - | C0265267 308050 Child syndrome | | |
NM_001129765.1(NSDHL):c.451G>T (p.Glu151Ter) | 50814 | NSDHL | Pathogenic | 104894905 | RCV000012184; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152031176 | 152031176 | NM_001129765.1:c.451G>T | NP_001123237.1:p.Glu151Ter | NC_000023.10:g.152031176G>T | OMIM Allelic Variant:300275.0006 | C0265267 308050 Child syndrome | | |
NM_001129765.1(NSDHL):c.544G>C (p.Ala182Pro) | 50814 | NSDHL | Pathogenic | 104894904 | RCV000012183; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152034363 | 152034363 | NM_001129765.1:c.544G>C | NP_001123237.1:p.Ala182Pro | NC_000023.10:g.152034363G>C | OMIM Allelic Variant:300275.0005 | C0265267 308050 Child syndrome | | |
NM_015922.2(NSDHL):c.595C>T (p.Arg199Cys) | 50814 | NSDHL | Likely pathogenic;Uncertain significance | 587784223 | RCV000146963; RCV000179494; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003; MedGen:CN221809 | X | 152034414 | 152034414 | NM_015922.2:c.595C>T | NP_057006.1:p.Arg199Cys | NC_000023.10:g.152034414C>T | - | C0265267 308050 Child syndrome; CN221809 not provided | | |
NM_001129765.1(NSDHL):c.613G>A (p.Gly205Ser) | 50814 | NSDHL | Pathogenic | 104894901 | RCV000012180; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152034432 | 152034432 | NM_001129765.1:c.613G>A | NP_001123237.1:p.Gly205Ser | NC_000023.10:g.152034432G>A | OMIM Allelic Variant:300275.0002 | C0265267 308050 Child syndrome | | |
NM_001129765.1(NSDHL):c.628C>T (p.Gln210Ter) | 50814 | NSDHL | Pathogenic | 104894902 | RCV000012181; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152034447 | 152034447 | NM_001129765.1:c.628C>T | NP_001123237.1:p.Gln210Ter | NC_000023.10:g.152034447C>T | OMIM Allelic Variant:300275.0003 | C0265267 308050 Child syndrome | | |
NM_015922.2(NSDHL):c.727G>A (p.Val243Met) | 50814 | NSDHL | Likely pathogenic | 587784224 | RCV000146964; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152036155 | 152036155 | NM_015922.2:c.727G>A | NP_057006.1:p.Val243Met | NC_000023.10:g.152036155G>A | - | C0265267 308050 Child syndrome | | |
NM_015922.2(NSDHL):c.757C>T (p.Gln253Ter) | 50814 | NSDHL | Pathogenic | 141571609 | RCV000146965; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152036185 | 152036185 | NM_015922.2:c.757C>T | NP_057006.1:p.Gln253Ter | NC_000023.10:g.152036185C>T | - | C0265267 308050 Child syndrome | | |
NM_001129765.1(NSDHL):c.904delT (p.Tyr302Thrfs) | 50814 | NSDHL | Pathogenic | 587784225 | RCV000146967; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152037442 | 152037442 | NM_001129765.1:c.904delT | NP_001123237.1:p.Tyr302Thrfs | NC_000023.10:g.152037442delT | - | C0265267 308050 Child syndrome | | |
NM_015922.2(NSDHL):c.906C>A (p.Tyr302Ter) | 50814 | NSDHL | Pathogenic | 587784226 | RCV000146968; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152037444 | 152037444 | NM_015922.2:c.906C>A | NP_057006.1:p.Tyr302Ter | NC_000023.10:g.152037444C>A | - | C0265267 308050 Child syndrome | | |
NM_001129765.1(NSDHL):c.1038_1041dupCATG (p.Gly348Hisfs) | 50814 | NSDHL | Pathogenic | 797045835 | RCV000192617; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152037576 | 152037579 | NM_001129765.1:c.1038_1041dupCATG | NP_001123237.1:p.Gly348Hisfs | NC_000023.10:g.152037576_152037579dupCATG | - | C0265267 308050 Child syndrome | | |
NM_001129765.1(NSDHL):c.1046A>G (p.Tyr349Cys) | 50814 | NSDHL | Pathogenic | 137853863 | RCV000020427; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152037584 | 152037584 | NM_001129765.1:c.1046A>G | NP_001123237.1:p.Tyr349Cys | NC_000023.10:g.152037584A>G | - | C0265267 308050 Child syndrome | | |
NM_001129765.1(NSDHL):c.1114delG (p.Val372Serfs) | 50814 | NSDHL | Likely pathogenic | 587784222 | RCV000146960; | N | MedGen:C0265267,OMIM:308050,ORPHA:139,SNOMED CT:17608003 | X | 152037652 | 152037652 | NM_001129765.1:c.1114delG | NP_001123237.1:p.Val372Serfs | NC_000023.10:g.152037652delG | - | C0265267 308050 Child syndrome | | |