ClinVar for MedGen (Select 46057) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374711	GRCh37/hg19 15q11.2(chr15:22698522-25199682)x1	CYFIP1, GOLGA6L1 +11 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 1703557	GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058)	ATP10A, CYFIP1 +26 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 1699729	NM_019066.5(MAGEL2):c.3110C>A (p.Ala1037Asp)	MAGEL2 (A1037D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697252	NM_022807.5(SNRPN):c.-390-9497_-390-228del	SNHG14, SNRPN +1 more	Deletion (intron variant +2 more)	Prader-Willi syndrome	GPathogenic
Select item 1685935	NM_019066.5(MAGEL2):c.2099dup (p.Val701fs)	MAGEL2 (V701fs)	Duplication (frameshift variant)	Prader-Willi syndrome	GPathogenic
Select item 1685934	NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter)	MAGEL2 (W965*)	Single nucleotide variant (nonsense)	Prader-Willi syndrome	GPathogenic
Select item 1343260	NM_002487.3(NDN):c.871C>A (p.Pro291Thr)	NDN (P291T)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 1325548	NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr)	MAGEL2 (A74T)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +1 more	GUncertain significance
Select item 1298609	NM_004667.6(HERC2):c.3687C>T (p.Asp1229=)	HERC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1284465	NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)	MAGEL2 (P664L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1233505	NM_019066.5(MAGEL2):c.2611_2612delinsTT (p.Ala871Phe)	MAGEL2 (A871F)	Indel (missense variant)	Schaaf-Yang syndrome +2 more	GBenign/Likely benign
Select item 1029884	NM_004667.6(HERC2):c.7069+3G>A	HERC2	Single nucleotide variant (intron variant)	Prader-Willi syndrome	GUncertain significance
Select item 1028141	NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr)	MAGEL2 (A658T)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +1 more	GUncertain significance
Select item 1028140	NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu)	MAGEL2 (P547L)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +2 more	GUncertain significance
Select item 931703	NM_004667.6(HERC2):c.11701-1G>A	HERC2	Single nucleotide variant (splice acceptor variant)	Prader-Willi syndrome	GPathogenic
Select item 931263	NM_004667.6(HERC2):c.5351G>A (p.Arg1784His)	HERC2 (R1784H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 931262	NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe)	HERC2 (S3475F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931010	NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del)	MAGEL2	Deletion (inframe_deletion)	not specified +2 more	GUncertain significance
Select item 930910	NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu)	MAGEL2 (P407L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 930829	NM_002487.3(NDN):c.472dup (p.Thr158fs)	NDN (T158fs)	Duplication (frameshift variant)	Prader-Willi syndrome	GUncertain significance
Select item 930673	NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu)	MAGEL2 (S1044L)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 930652	NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met)	HERC2 (I2866M)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 930471	NM_002487.3(NDN):c.212A>G (p.Gln71Arg)	NDN (Q71R)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 930448	NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly)	HERC2 (A2671G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 930278	NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer)	MAGEL2	Microsatellite (nonsense)	Prader-Willi syndrome	GLikely pathogenic
Select item 784296	NM_018958.3(NPAP1):c.3046G>T (p.Asp1016Tyr)	NPAP1 (D1016Y)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +1 more	GBenign/Likely benign
Select item 773044	NM_018958.3(NPAP1):c.663G>A (p.Met221Ile)	NPAP1 (M221I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 728636	NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys)	HERC2 (R1045C)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +3 more	GLikely benign
Select item 625718	GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)	ATP10A, GABRA5 +21 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 625717	GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625716	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625713	GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)	NIPA1, NIPA2 +27 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625711	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)	APBA2, ARHGAP11A +50 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 548574	NM_002487.3(NDN):c.533G>A (p.Arg178Lys)	NDN (R178K)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 452637	NM_004667.6(HERC2):c.8399G>A (p.Arg2800His)	HERC2 (R2800H)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability +3 more	GUncertain significance
Select item 450670	NM_004667.6(HERC2):c.5374A>G (p.Met1792Val)	HERC2 (M1792V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 435800	NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)	MAGEL2 (M129V)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +3 more	GConflicting classifications of pathogenicity
Select item 435798	NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp)	MAGEL2 (A320D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 425062	NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val)	MAGEL2 (A572V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 392903	NM_004667.6(HERC2):c.13612G>A (p.Val4538Met)	HERC2 (V4538M)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +3 more	GUncertain significance
Select item 375417	Single allele	ATP10A, GABRA5 +21 more	Deletion	Prader-Willi syndrome	GPathogenic
Select item 208684	NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)	MAGEL2 (Q638*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 193400	NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile)	MAGEL2 (V692I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 193399	NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)	MAGEL2 (T1006S)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +3 more	GBenign/Likely benign

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Links from MedGen

Items: 44