ClinVar for MedGen (Select 46057) - ClinVar

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Items: 44

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21369281.	NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter) GRCh37: Chr10:103826744 GRCh38: Chr10:102066987	HPS6	Q505*	not provided, Prader-Willi syndrome	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17035572.	GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) 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
Select item 16972523.	NM_022807.5(SNRPN):c.-390-9497_-390-228del GRCh37: Chr15:25197764-25207033 GRCh38: Chr15:24952617-24961886	SNHG14, SNRPN, SNURF		Prader-Willi syndrome	Pathogenic (Jul 19, 2022)	no assertion criteria provided
Select item 16859354.	NM_019066.5(MAGEL2):c.2099dup (p.Val701fs) GRCh37: Chr15:23890790-23890791 GRCh38: Chr15:23645643-23645644	MAGEL2	V701fs	Prader-Willi syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16859345.	NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter) GRCh37: Chr15:23889996 GRCh38: Chr15:23644849	MAGEL2	W965*	Prader-Willi syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 13432606.	NM_002487.3(NDN):c.871C>A (p.Pro291Thr) GRCh37: Chr15:23931494 GRCh38: Chr15:23686347	NDN	P291T	Prader-Willi syndrome	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 13255487.	NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr) GRCh37: Chr15:23892670 GRCh38: Chr15:23647523	MAGEL2	A74T	Prader-Willi syndrome, Schaaf-Yang syndrome, Schaaf-Yang syndrome	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12986098.	NM_004667.6(HERC2):c.3687C>T (p.Asp1229=) GRCh37: Chr15:28483809 GRCh38: Chr15:28238663	HERC2		Skin/hair/eye pigmentation, variation in, 1, Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability, not provided	Likely benign (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12844659.	NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) GRCh37: Chr15:23890899 GRCh38: Chr15:23645752	MAGEL2	P664L	Prader-Willi syndrome, Schaaf-Yang syndrome, not provided	Conflicting interpretations of pathogenicity (Apr 28, 2022)	criteria provided, conflicting interpretations
Select item 123350510.	NM_019066.5(MAGEL2):c.2611_2612delinsTT (p.Ala871Phe) 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
Select item 102988411.	NM_004667.6(HERC2):c.7069+3G>A GRCh37: Chr15:28456145 GRCh38: Chr15:28210999	HERC2		Prader-Willi syndrome	Uncertain significance (Jul 26, 2019)	criteria provided, single submitter
Select item 102814112.	NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) GRCh37: Chr15:23890918 GRCh38: Chr15:23645771	MAGEL2	A658T	Schaaf-Yang syndrome, Prader-Willi syndrome, Schaaf-Yang syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102814013.	NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) GRCh37: Chr15:23891250 GRCh38: Chr15:23646103	MAGEL2	P547L	Schaaf-Yang syndrome, Prader-Willi syndrome, Schaaf-Yang syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93170314.	NM_004667.6(HERC2):c.11701-1G>A GRCh37: Chr15:28386993 GRCh38: Chr15:28141847	HERC2		Prader-Willi syndrome	Pathogenic (Sep 4, 2019)	criteria provided, single submitter
Select item 93126315.	NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) 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
Select item 93126216.	NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) GRCh37: Chr15:28412963 GRCh38: Chr15:28167817	HERC2	S3475F	not provided, Prader-Willi syndrome	Uncertain significance (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93101017.	NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) GRCh37: Chr15:23892322-23892351 GRCh38: Chr15:23647175-23647204	MAGEL2		not provided, Prader-Willi syndrome, not specified	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93091018.	NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) GRCh37: Chr15:23891670 GRCh38: Chr15:23646523	MAGEL2	P407L	Prader-Willi syndrome	Uncertain significance (Jan 27, 2020)	criteria provided, single submitter
Select item 93082919.	NM_002487.3(NDN):c.472dup (p.Thr158fs) GRCh37: Chr15:23931892-23931893 GRCh38: Chr15:23686745-23686746	NDN	T158fs	Prader-Willi syndrome	Uncertain significance (Oct 17, 2018)	criteria provided, single submitter
Select item 93067320.	NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) GRCh37: Chr15:23889759 GRCh38: Chr15:23644612	MAGEL2	S1044L	Prader-Willi syndrome	Uncertain significance (Mar 6, 2020)	criteria provided, single submitter
Select item 93065221.	NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) GRCh37: Chr15:28436162 GRCh38: Chr15:28191016	HERC2	I2866M	Prader-Willi syndrome	Uncertain significance (Dec 20, 2019)	criteria provided, single submitter
Select item 93047122.	NM_002487.3(NDN):c.212A>G (p.Gln71Arg) GRCh37: Chr15:23932153 GRCh38: Chr15:23687006	NDN	Q71R	Prader-Willi syndrome	Uncertain significance (Aug 29, 2019)	criteria provided, single submitter
Select item 93044823.	NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) GRCh37: Chr15:28441715 GRCh38: Chr15:28196569	HERC2	A2671G	Developmental delay with autism spectrum disorder and gait instability, Prader-Willi syndrome	Uncertain significance (Jun 3, 2020)	criteria provided, multiple submitters, no conflicts
Select item 93027824.	NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) GRCh37: Chr15:23889944-23889945 GRCh38: Chr15:23644797-23644798	MAGEL2		Prader-Willi syndrome	Likely pathogenic (Nov 16, 2018)	criteria provided, single submitter
Select item 85224125.	NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu) GRCh37: Chr12:112924336 GRCh38: Chr12:112486532	PTPN11	V432L, V427L, V428L	not provided, Prader-Willi syndrome, RASopathy	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 78429626.	NM_018958.3(NPAP1):c.3046G>T (p.Asp1016Tyr) 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
Select item 77304427.	NM_018958.3(NPAP1):c.663G>A (p.Met221Ile) 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
Select item 72863628.	NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys) GRCh37: Chr15:28493800 GRCh38: Chr15:28248654	HERC2	R1045C	Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability, Skin/hair/eye pigmentation, variation in, 1, not provided	Likely benign (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62571829.	GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) 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
Select item 62571730.	GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) 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
Select item 62571631.	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) 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
Select item 62571332.	GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) GRCh37: Chr15:22770994-29050198	ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A		Angelman syndrome, Prader-Willi syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62571133.	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) GRCh37: Chr15:20848750-32925141	APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, FAM189A1, 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		Angelman syndrome, Prader-Willi syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 54857434.	NM_002487.3(NDN):c.533G>A (p.Arg178Lys) GRCh37: Chr15:23931832 GRCh38: Chr15:23686685	NDN	R178K	Prader-Willi syndrome	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 45263735.	NM_004667.6(HERC2):c.8399G>A (p.Arg2800His) GRCh37: Chr15:28437159 GRCh38: Chr15:28192013	HERC2	R2800H	Developmental delay with autism spectrum disorder and gait instability, Skin/hair/eye pigmentation, variation in, 1, Prader-Willi syndrome, not provided	Uncertain significance (Oct 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45067036.	NM_004667.6(HERC2):c.5374A>G (p.Met1792Val) GRCh37: Chr15:28473454 GRCh38: Chr15:28228308	HERC2	M1792V	Inborn genetic diseases, Developmental delay with autism spectrum disorder and gait instability, Skin/hair/eye pigmentation, variation in, 1, Prader-Willi syndrome, not provided	Uncertain significance (Feb 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43580037.	NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) GRCh37: Chr15:23892505 GRCh38: Chr15:23647358	MAGEL2	M129V	Prader-Willi syndrome, not specified, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 43579838.	NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp) GRCh37: Chr15:23891931 GRCh38: Chr15:23646784	MAGEL2	A320D	not provided, Inborn genetic diseases, not specified, Schaaf-Yang syndrome, Prader-Willi syndrome	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 42506239.	NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val) GRCh37: Chr15:23891175 GRCh38: Chr15:23646028	MAGEL2	A572V	Prader-Willi syndrome, Schaaf-Yang syndrome, not provided	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 39290340.	NM_004667.6(HERC2):c.13612G>A (p.Val4538Met) GRCh37: Chr15:28360685 GRCh38: Chr15:28115539	HERC2	V4538M	Prader-Willi syndrome, Skin/hair/eye pigmentation, variation in, 1, Developmental delay with autism spectrum disorder and gait instability, not provided	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 37541741.	Single allele 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
Select item 20868442.	NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) GRCh37: Chr15:23890978 GRCh38: Chr15:23645831	MAGEL2	Q638*	not provided, Inborn genetic diseases, Prader-Willi syndrome, Schaaf-Yang syndrome, Schaaf-Yang syndrome	Pathogenic/Likely pathogenic (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 19340043.	NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) GRCh37: Chr15:23890816 GRCh38: Chr15:23645669	MAGEL2	V692I	not specified, not provided, Schaaf-Yang syndrome, Prader-Willi syndrome	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19339944.	NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) GRCh37: Chr15:23889873 GRCh38: Chr15:23644726	MAGEL2	T1006S	Schaaf-Yang syndrome, Prader-Willi syndrome, not specified, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 44