| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 48072 | single nucleotide variant | NM_001567.3(INPPL1):c.1976C>T (p.Pro659Leu) | 397514508 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71944143 | 71944143 | C | T |
| 48072 | single nucleotide variant | NM_001567.3(INPPL1):c.1976C>T (p.Pro659Leu) | 397514508 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72233099 | 72233099 | C | T |
| 48073 | single nucleotide variant | NM_001567.3(INPPL1):c.545C>A (p.Ser182Ter) | 397514509 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71940160 | 71940160 | C | A |
| 48073 | single nucleotide variant | NM_001567.3(INPPL1):c.545C>A (p.Ser182Ter) | 397514509 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72229116 | 72229116 | C | A |
| 48074 | deletion | NM_001567.3(INPPL1):c.768delA (p.Glu258Serfs) | 797044468 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71940721 | 71940721 | A | - |
| 48074 | deletion | NM_001567.3(INPPL1):c.768delA (p.Glu258Serfs) | 797044468 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72229677 | 72229677 | A | - |
| 48075 | single nucleotide variant | NM_001567.3(INPPL1):c.2415+1G>A | 655423 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71945660 | 71945660 | G | A |
| 48075 | single nucleotide variant | NM_001567.3(INPPL1):c.2415+1G>A | 655423 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72234616 | 72234616 | G | A |
| 48076 | single nucleotide variant | NM_001567.3(INPPL1):c.1975C>T (p.Pro659Ser) | 397514510 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71944142 | 71944142 | C | T |
| 48076 | single nucleotide variant | NM_001567.3(INPPL1):c.1975C>T (p.Pro659Ser) | 397514510 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72233098 | 72233098 | C | T |
| 48077 | deletion | NM_001567.3(INPPL1):c.278_282delAGACC (p.Gln93Profs) | 797044469 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71939423 | 71939427 | AGACC | - |
| 48077 | deletion | NM_001567.3(INPPL1):c.278_282delAGACC (p.Gln93Profs) | 797044469 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72228379 | 72228383 | AGACC | - |
| 48078 | single nucleotide variant | NM_001567.3(INPPL1):c.1201C>T (p.Arg401Trp) | 397514511 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71941843 | 71941843 | C | T |
| 48078 | single nucleotide variant | NM_001567.3(INPPL1):c.1201C>T (p.Arg401Trp) | 397514511 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72230799 | 72230799 | C | T |
| 48079 | single nucleotide variant | NM_001567.3(INPPL1):c.2164T>A (p.Phe722Ile) | 397514512 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71944740 | 71944740 | T | A |
| 48079 | single nucleotide variant | NM_001567.3(INPPL1):c.2164T>A (p.Phe722Ile) | 397514512 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72233696 | 72233696 | T | A |
| 48080 | deletion | NM_001567.3(INPPL1):c.94_121del28 (p.Glu32Metfs) | 797044470 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71936122 | 71936149 | na | na |
| 48080 | deletion | NM_001567.3(INPPL1):c.94_121del28 (p.Glu32Metfs) | 797044470 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72225078 | 72225105 | na | na |
| 237477 | deletion | NM_001567.3(INPPL1):c.24_39del16 (p.Gly9Trpfs) | 878853119 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72225008 | 72225023 | na | na |
| 237477 | deletion | NM_001567.3(INPPL1):c.24_39del16 (p.Gly9Trpfs) | 878853119 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71936052 | 71936067 | na | na |
| 237478 | duplication | NM_001567.3(INPPL1):c.35dupG (p.Ala13Argfs) | 878853122 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72225019 | 72225019 | G | GG |
| 237478 | duplication | NM_001567.3(INPPL1):c.35dupG (p.Ala13Argfs) | 878853122 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71936063 | 71936063 | G | GG |
| 237479 | single nucleotide variant | NM_001567.3(INPPL1):c.753G>C (p.Gln251His) | 878853120 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72229558 | 72229558 | G | C |
| 237479 | single nucleotide variant | NM_001567.3(INPPL1):c.753G>C (p.Gln251His) | 878853120 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71940602 | 71940602 | G | C |
| 237480 | deletion | NM_001567.3(INPPL1):c.768_769delAG (p.Glu258Alafs) | 746647683 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71940721 | 71940722 | AG | - |
| 237480 | deletion | NM_001567.3(INPPL1):c.768_769delAG (p.Glu258Alafs) | 746647683 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72229677 | 72229678 | AG | - |
| 237481 | deletion | NM_001567.3(INPPL1):c.1687_1691delACCTC (p.Thr563Glyfs) | 878853121 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71943355 | 71943359 | ACCTC | - |
| 237481 | deletion | NM_001567.3(INPPL1):c.1687_1691delACCTC (p.Thr563Glyfs) | 878853121 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72232311 | 72232315 | ACCTC | - |
| 237482 | single nucleotide variant | NM_001567.3(INPPL1):c.2071C>T (p.Arg691Trp) | 878853123 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 71944515 | 71944515 | C | T |
| 237482 | single nucleotide variant | NM_001567.3(INPPL1):c.2071C>T (p.Arg691Trp) | 878853123 | MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:C0432219 | 11 | 72233471 | 72233471 | C | T |