Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004959.4(NR5A1):c.1310T>A (p.Leu437Gln) | 2516 | NR5A1 | Pathogenic | 104894120 | RCV000013647; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127245113 | 127245113 | NM_004959.4:c.1310T>A | NP_004950.2:p.Leu437Gln | NC_000009.11:g.127245113A>T | OMIM Allelic Variant:184757.0010 | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.1210T>G (p.Tyr404Asp) | 2516 | NR5A1 | Pathogenic | 863224904 | RCV000199384; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127245213 | 127245213 | NM_004959.4:c.1210T>G | NP_004950.2:p.Tyr404Asp | NC_000009.11:g.127245213A>C | - | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.877G>A (p.Asp293Asn) | 2516 | NR5A1 | Pathogenic | 121918655 | RCV000013651; RCV000013650; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085; MedGen:C2751825,OMIM:612964 | 9 | 127255422 | 127255422 | NM_004959.4:c.877G>A | NP_004950.2:p.Asp293Asn | NC_000009.11:g.127255422C>T | OMIM Allelic Variant:184757.0012 | C2751824 612965 46,XY sex reversal, type 3; C2751825 612964 Premature ovarian failure 7 | | |
NM_004959.4(NR5A1):c.666delC (p.Asn222Lysfs) | 2516 | NR5A1 | Pathogenic | 606231206 | RCV000013649; RCV000013648; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085; MedGen:C2751825,OMIM:612964 | 9 | 127262573 | 127262573 | NM_004959.4:c.666delC | NP_004950.2:p.Asn222Lysfs | NC_000009.11:g.127262573delG | OMIM Allelic Variant:184757.0011 | C2751824 612965 46,XY sex reversal, type 3; C2751825 612964 Premature ovarian failure 7 | | |
NM_004959.4(NR5A1):c.390delG (p.Pro131Argfs) | 2516 | NR5A1 | Pathogenic | 606231207 | RCV000013655; RCV000013654; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085; MedGen:C2751825,OMIM:612964 | 9 | 127262849 | 127262849 | NM_004959.4:c.390delG | NP_004950.2:p.Pro131Argfs | NC_000009.11:g.127262849delC | OMIM Allelic Variant:184757.0014 | C2751824 612965 46,XY sex reversal, type 3; C2751825 612964 Premature ovarian failure 7 | | |
NM_004959.4(NR5A1):c.275G>A (p.Arg92Gln) | 2516 | NR5A1 | Pathogenic | 104894119 | RCV000013640; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127262964 | 127262964 | NM_004959.4:c.275G>A | NP_004950.2:p.Arg92Gln | NC_000009.11:g.127262964C>T | OMIM Allelic Variant:184757.0003 | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.271G>A (p.Gly91Ser) | 2516 | NR5A1 | Pathogenic | 104894126 | RCV000013646; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127262968 | 127262968 | NM_004959.4:c.271G>A | NP_004950.2:p.Gly91Ser | NC_000009.11:g.127262968C>T | OMIM Allelic Variant:184757.0009 | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.234G>A (p.Met78Ile) | 2516 | NR5A1 | Pathogenic | 104894125 | RCV000013645; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127265368 | 127265368 | NM_004959.4:c.234G>A | NP_004950.2:p.Met78Ile | NC_000009.11:g.127265368C>T | OMIM Allelic Variant:184757.0008 | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.151G>T (p.Glu51Ter) | 2516 | NR5A1 | Pathogenic | 775441984 | RCV000197157; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127265451 | 127265451 | NM_004959.4:c.151G>T | NP_004950.2:p.Glu51Ter | NC_000009.11:g.127265451C>A | - | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.104_105delGCinsAA (p.Gly35Glu) | 2516 | NR5A1 | Pathogenic | 121918654 | RCV000013638; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127265497 | 127265498 | NM_004959.4:c.104_105delGCinsAA | NP_004950.2:p.Gly35Glu | NC_000009.11:g.127265497_127265498delGCinsTT | OMIM Allelic Variant:184757.0001 | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.48C>A (p.Cys16Ter) | 2516 | NR5A1 | Pathogenic | 104894123 | RCV000013642; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127265627 | 127265627 | NM_004959.4:c.48C>A | NP_004950.2:p.Cys16Ter | NC_000009.11:g.127265627G>T | OMIM Allelic Variant:184757.0005 | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.43G>A (p.Val15Met) | 2516 | NR5A1 | Pathogenic | 104894124 | RCV000013644; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127265632 | 127265632 | NM_004959.4:c.43G>A | NP_004950.2:p.Val15Met | NC_000009.11:g.127265632C>T | OMIM Allelic Variant:184757.0007 | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.18delC (p.Asp6Glufs) | 2516 | NR5A1 | Pathogenic | 606231205 | RCV000013643; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085 | 9 | 127265657 | 127265657 | NM_004959.4:c.18delC | NP_004950.2:p.Asp6Glufs | NC_000009.11:g.127265657delG | OMIM Allelic Variant:184757.0006 | C2751824 612965 46,XY sex reversal, type 3 | | |
NM_004959.4(NR5A1):c.3G>A (p.Met1Ile) | 2516 | NR5A1 | Pathogenic | 121918656 | RCV000013653; RCV000013652; | N | MedGen:C2751824,OMIM:612965,ORPHA:98085; MedGen:C2751825,OMIM:612964 | 9 | 127265672 | 127265672 | NM_004959.4:c.3G>A | NP_004950.2:p.Met1Ile | NC_000009.11:g.127265672C>T | OMIM Allelic Variant:184757.0013 | C2751824 612965 46,XY sex reversal, type 3; C2751825 612964 Premature ovarian failure 7 | | |