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Links from MedGen

Items: 43

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:22770421-28635058
Prader-Willi syndromePathogenicno assertion criteria provided
2.
GRCh37:
Chr15:23889780
GRCh38:
Chr15:23644633
MAGEL2A1037Dnot providedUncertain significance
(Jan 24, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr15:25197764-25207033
GRCh38:
Chr15:24952617-24961886
SNHG14, SNRPN, SNURFPrader-Willi syndromePathogenic
(Jul 19, 2022)
no assertion criteria provided
4.
GRCh37:
Chr15:23890790-23890791
GRCh38:
Chr15:23645643-23645644
MAGEL2V701fsPrader-Willi syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr15:23889996
GRCh38:
Chr15:23644849
MAGEL2W965*Prader-Willi syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr15:23931494
GRCh38:
Chr15:23686347
NDNP291TPrader-Willi syndromeUncertain significance
(Oct 21, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr15:23892670
GRCh38:
Chr15:23647523
MAGEL2A74TSchaaf-Yang syndrome, Prader-Willi syndrome, Schaaf-Yang syndrome
Uncertain significance
(Aug 20, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr15:28483809
GRCh38:
Chr15:28238663
HERC2not 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
9.
GRCh37:
Chr15:23890899
GRCh38:
Chr15:23645752
MAGEL2P664LPrader-Willi syndrome, Schaaf-Yang syndrome, not provided,
Schaaf-Yang syndrome
Conflicting interpretations of pathogenicity
(Apr 28, 2022)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr15:23890278-23890279
GRCh38:
Chr15:23645131-23645132
MAGEL2A871FSchaaf-Yang syndrome, Prader-Willi syndrome, not provided
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:28456145
GRCh38:
Chr15:28210999
HERC2Prader-Willi syndromeUncertain significance
(Jul 26, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr15:23890918
GRCh38:
Chr15:23645771
MAGEL2A658TPrader-Willi syndrome, Schaaf-Yang syndrome, Schaaf-Yang syndrome
Uncertain significance
(Jan 5, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr15:23891250
GRCh38:
Chr15:23646103
MAGEL2P547LPrader-Willi syndrome, Schaaf-Yang syndrome, Schaaf-Yang syndrome
Uncertain significance
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr15:28386993
GRCh38:
Chr15:28141847
HERC2Prader-Willi syndromePathogenic
(Sep 4, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr15:28473477
GRCh38:
Chr15:28228331
HERC2R1784HPrader-Willi syndrome, Inborn genetic diseasesUncertain significance
(Mar 29, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr15:28412963
GRCh38:
Chr15:28167817
HERC2S3475Fnot provided, Prader-Willi syndromeUncertain significance
(Feb 20, 2023)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr15:23892322-23892351
GRCh38:
Chr15:23647175-23647204
MAGEL2not specified, Prader-Willi syndrome, not provided
Uncertain significance
(Jul 27, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr15:23891670
GRCh38:
Chr15:23646523
MAGEL2P407LPrader-Willi syndromeUncertain significance
(Jan 27, 2020)
criteria provided, single submitter
19.
GRCh37:
Chr15:23931892-23931893
GRCh38:
Chr15:23686745-23686746
NDNT158fsPrader-Willi syndromeUncertain significance
(Oct 17, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr15:23889759
GRCh38:
Chr15:23644612
MAGEL2S1044LPrader-Willi syndromeUncertain significance
(Mar 6, 2020)
criteria provided, single submitter
21.
GRCh37:
Chr15:28436162
GRCh38:
Chr15:28191016
HERC2I2866MPrader-Willi syndromeUncertain significance
(Dec 20, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr15:23932153
GRCh38:
Chr15:23687006
NDNQ71RPrader-Willi syndromeUncertain significance
(Aug 29, 2019)
criteria provided, single submitter
23.
GRCh37:
Chr15:28441715
GRCh38:
Chr15:28196569
HERC2A2671GPrader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instabilityUncertain significance
(Jun 3, 2020)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr15:23889944-23889945
GRCh38:
Chr15:23644797-23644798
MAGEL2Prader-Willi syndromeLikely pathogenic
(Nov 16, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr15:24924060
GRCh38:
Chr15:24678913
NPAP1D1016Ynot provided, Prader-Willi syndromeBenign/Likely benign
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr15:24921677
GRCh38:
Chr15:24676530
NPAP1M221Inot provided, Prader-Willi syndromeBenign/Likely benign
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr15:28493800
GRCh38:
Chr15:28248654
HERC2R1045Cnot 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
28.
GRCh37:
Chr15:23810184-28525505
Prader-Willi syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr15:23683783-28530182
Angelman syndrome, Prader-Willi syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr15:23615768-28561671
Angelman syndrome, Prader-Willi syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr15:22770994-29050198
Prader-Willi syndrome, Angelman syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr15:20848750-32925141
Prader-Willi syndrome, Angelman syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr15:23931832
GRCh38:
Chr15:23686685
NDNR178KPrader-Willi syndromeUncertain significance
(Mar 5, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr15:28437159
GRCh38:
Chr15:28192013
HERC2R2800HSkin/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
35.
GRCh37:
Chr15:28473454
GRCh38:
Chr15:28228308
HERC2M1792VSkin/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
36.
GRCh37:
Chr15:23892505
GRCh38:
Chr15:23647358
MAGEL2M129VPrader-Willi syndrome, not provided, Inborn genetic diseases,
not specified
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr15:23891931
GRCh38:
Chr15:23646784
MAGEL2A320Dnot provided, not specified, Inborn genetic diseases,
Schaaf-Yang syndrome, Prader-Willi syndrome
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr15:23891175
GRCh38:
Chr15:23646028
MAGEL2A572Vnot provided, Schaaf-Yang syndrome, Prader-Willi syndrome
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:28360685
GRCh38:
Chr15:28115539
HERC2V4538MPrader-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
40.
GRCh37:
Chr15:23707435-28520316
Prader-Willi syndromePathogeniccriteria provided, single submitter
41.
GRCh37:
Chr15:23890978
GRCh38:
Chr15:23645831
MAGEL2Q638*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
42.
GRCh37:
Chr15:23890816
GRCh38:
Chr15:23645669
MAGEL2V692ISchaaf-Yang syndrome, Prader-Willi syndrome, not specified,
not provided
Benign/Likely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr15:23889873
GRCh38:
Chr15:23644726
MAGEL2T1006SSchaaf-Yang syndrome, Prader-Willi syndrome, not specified,
not provided
Benign/Likely benign
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
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