"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235292	NM_019066.5(MAGEL2):c.3746G>A (p.Arg1249His)	MAGEL2 (R1249H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 445351	NM_019066.5(MAGEL2):c.2692A>G (p.Ser898Gly)	MAGEL2 (S898G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 158811	NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val)	MAGEL2 (A871V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 158810	NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser)	MAGEL2 (A871S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 445637	NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr)	MAGEL2 (A764T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 193405	NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro)	MAGEL2 (A761P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 193404	NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2])	MAGEL2	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 193398	NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val)	MAGEL2 (A360V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign