"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MAGEL2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193399	NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)	MAGEL2 (T1006S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 193400	NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile)	MAGEL2 (V692I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1284465	NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)	MAGEL2 (P664L)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1028141	NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr)	MAGEL2 (A658T)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +1 more	GUncertain significance
Select item 208684	NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)	MAGEL2 (Q638*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 425062	NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val)	MAGEL2 (A572V)	Single nucleotide variant (missense variant)	Schaaf-Yang syndrome +2 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 +1 more	GUncertain significance
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 1325548	NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr)	MAGEL2 (A74T)	Single nucleotide variant (missense variant)	Prader-Willi syndrome +1 more	GUncertain significance