| - GRCh37:
- Chr15:22770421-28635058
| ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A | | Prader-Willi syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:23889780
- GRCh38:
- Chr15:23644633
| MAGEL2 | A1037D | not provided | Uncertain significance (Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:25197764-25207033
- GRCh38:
- Chr15:24952617-24961886
| SNHG14, SNRPN, SNURF | | Prader-Willi syndrome | Pathogenic (Jul 19, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr15:23890790-23890791
- GRCh38:
- Chr15:23645643-23645644
| MAGEL2 | V701fs | Prader-Willi syndrome | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23889996
- GRCh38:
- Chr15:23644849
| MAGEL2 | W965* | Prader-Willi syndrome | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23931494
- GRCh38:
- Chr15:23686347
| NDN | P291T | Prader-Willi syndrome | Uncertain significance (Oct 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23892670
- GRCh38:
- Chr15:23647523
| MAGEL2 | A74T | Schaaf-Yang syndrome, Prader-Willi syndrome, Schaaf-Yang syndrome
| Uncertain significance (Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28483809
- GRCh38:
- Chr15:28238663
| HERC2 | | not provided, Skin/hair/eye pigmentation, variation in, 1, Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability | Likely benign (May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23890899
- GRCh38:
- Chr15:23645752
| MAGEL2 | P664L | Prader-Willi syndrome, Schaaf-Yang syndrome, not provided, Schaaf-Yang syndrome | Conflicting interpretations of pathogenicity (Apr 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:23890278-23890279
- GRCh38:
- Chr15:23645131-23645132
| MAGEL2 | A871F | Schaaf-Yang syndrome, Prader-Willi syndrome, not provided
| Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28456145
- GRCh38:
- Chr15:28210999
| HERC2 | | Prader-Willi syndrome | Uncertain significance (Jul 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23890918
- GRCh38:
- Chr15:23645771
| MAGEL2 | A658T | Prader-Willi syndrome, Schaaf-Yang syndrome, Schaaf-Yang syndrome
| Uncertain significance (Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23891250
- GRCh38:
- Chr15:23646103
| MAGEL2 | P547L | Prader-Willi syndrome, Schaaf-Yang syndrome, Schaaf-Yang syndrome
| Uncertain significance (Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28386993
- GRCh38:
- Chr15:28141847
| HERC2 | | Prader-Willi syndrome | Pathogenic (Sep 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28473477
- GRCh38:
- Chr15:28228331
| HERC2 | R1784H | Prader-Willi syndrome, Inborn genetic diseases | Uncertain significance (Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28412963
- GRCh38:
- Chr15:28167817
| HERC2 | S3475F | not provided, Prader-Willi syndrome | Uncertain significance (Feb 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23892322-23892351
- GRCh38:
- Chr15:23647175-23647204
| MAGEL2 | | not specified, Prader-Willi syndrome, not provided
| Uncertain significance (Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23891670
- GRCh38:
- Chr15:23646523
| MAGEL2 | P407L | Prader-Willi syndrome | Uncertain significance (Jan 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23931892-23931893
- GRCh38:
- Chr15:23686745-23686746
| NDN | T158fs | Prader-Willi syndrome | Uncertain significance (Oct 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23889759
- GRCh38:
- Chr15:23644612
| MAGEL2 | S1044L | Prader-Willi syndrome | Uncertain significance (Mar 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28436162
- GRCh38:
- Chr15:28191016
| HERC2 | I2866M | Prader-Willi syndrome | Uncertain significance (Dec 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23932153
- GRCh38:
- Chr15:23687006
| NDN | Q71R | Prader-Willi syndrome | Uncertain significance (Aug 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28441715
- GRCh38:
- Chr15:28196569
| HERC2 | A2671G | Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability | Uncertain significance (Jun 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23889944-23889945
- GRCh38:
- Chr15:23644797-23644798
| MAGEL2 | | Prader-Willi syndrome | Likely pathogenic (Nov 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:24924060
- GRCh38:
- Chr15:24678913
| NPAP1 | D1016Y | not provided, Prader-Willi syndrome | Benign/Likely benign (May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:24921677
- GRCh38:
- Chr15:24676530
| NPAP1 | M221I | not provided, Prader-Willi syndrome | Benign/Likely benign (May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28493800
- GRCh38:
- Chr15:28248654
| HERC2 | R1045C | not provided, Prader-Willi syndrome, Skin/hair/eye pigmentation, variation in, 1, Developmental delay with autism spectrum disorder and gait instability | Likely benign (Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23810184-28525505
| ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A | | Prader-Willi syndrome | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23683783-28530182
| ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A | | Angelman syndrome, Prader-Willi syndrome | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23615768-28561671
| ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A | | Angelman syndrome, Prader-Willi syndrome | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:22770994-29050198
| NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A, ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN | | Prader-Willi syndrome, Angelman syndrome | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:20848750-32925141
| APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, ENTREP2, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4M2, OR4N4, OTUD7A, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A | | Prader-Willi syndrome, Angelman syndrome | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:23931832
- GRCh38:
- Chr15:23686685
| NDN | R178K | Prader-Willi syndrome | Uncertain significance (Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28437159
- GRCh38:
- Chr15:28192013
| HERC2 | R2800H | Skin/hair/eye pigmentation, variation in, 1, Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability, not provided | Uncertain significance (Oct 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28473454
- GRCh38:
- Chr15:28228308
| HERC2 | M1792V | Skin/hair/eye pigmentation, variation in, 1, Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases, not provided | Uncertain significance (Feb 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23892505
- GRCh38:
- Chr15:23647358
| MAGEL2 | M129V | Prader-Willi syndrome, not provided, Inborn genetic diseases, not specified | Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:23891931
- GRCh38:
- Chr15:23646784
| MAGEL2 | A320D | not provided, not specified, Inborn genetic diseases, Schaaf-Yang syndrome, Prader-Willi syndrome | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:23891175
- GRCh38:
- Chr15:23646028
| MAGEL2 | A572V | not provided, Schaaf-Yang syndrome, Prader-Willi syndrome
| Uncertain significance (Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28360685
- GRCh38:
- Chr15:28115539
| HERC2 | V4538M | Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability, Skin/hair/eye pigmentation, variation in, 1, not provided | Uncertain significance (Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23707435-28520316
| ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A | | Prader-Willi syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:23890978
- GRCh38:
- Chr15:23645831
| MAGEL2 | Q638* | Inborn genetic diseases, Schaaf-Yang syndrome, Prader-Willi syndrome, not provided, Schaaf-Yang syndrome | Pathogenic/Likely pathogenic (Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23890816
- GRCh38:
- Chr15:23645669
| MAGEL2 | V692I | Schaaf-Yang syndrome, Prader-Willi syndrome, not specified, not provided | Benign/Likely benign (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:23889873
- GRCh38:
- Chr15:23644726
| MAGEL2 | T1006S | Schaaf-Yang syndrome, Prader-Willi syndrome, not specified, not provided | Benign/Likely benign (Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |