"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211910	NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)	PLA2G6 (P806R +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +4 more	GConflicting classifications of pathogenicity
Select item 159765	NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration +3 more	GBenign/Likely benign
Select item 159754	NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile)	PLA2G6 (V690I +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +3 more	GUncertain significance
Select item 444589	NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val)	PLA2G6 (M470V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1209989	NM_003560.4(PLA2G6):c.1241G>T (p.Cys414Phe)	PLA2G6 (C188F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 159727	NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration +3 more	GBenign
Select item 159725	NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)	PLA2G6 (A343T +2 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +4 more	GBenign/Likely benign
Select item 341643	NM_003560.4(PLA2G6):c.990C>T (p.Phe330=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy +2 more	GBenign/Likely benign
Select item 159783	NM_003560.4(PLA2G6):c.972G>A (p.Ala324=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration +3 more	GBenign/Likely benign
Select item 159782	NM_003560.4(PLA2G6):c.957G>A (p.Thr319=)	PLA2G6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 809369	NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys)	PLA2G6 (R75C +2 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 more	GUncertain significance
Select item 159771	NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)	PLA2G6 (G2A)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1168107	NM_003560.4(PLA2G6):c.209+16C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GBenign
Select item 159781	NM_003560.4(PLA2G6):c.87G>A (p.Val29=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign