"PreventionGenetics, part of Exact Sciences"[submitter] AND "PLA2G6"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6195	NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	PLA2G6 (Y790* +4 more)	Single nucleotide variant (nonsense)	Autism +11 more	GConflicting classifications of pathogenicity
Select item 521066	NM_003560.4(PLA2G6):c.1985T>C (p.Leu662Pro)	PLA2G6 (L662P +4 more)	Single nucleotide variant (missense variant)	PLA2G6-related disorder +2 more	GUncertain significance
Select item 2632767	NM_003560.4(PLA2G6):c.1846A>C (p.Asn616His)	PLA2G6 (N384H +4 more)	Single nucleotide variant (missense variant)	PLA2G6-related disorder	GUncertain significance
Select item 159748	NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)	PLA2G6 (R600Q +4 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 803693	NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)	PLA2G6 (A267T +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +2 more	GConflicting classifications of pathogenicity
Select item 2869885	NM_003560.4(PLA2G6):c.1454GAG[2] (p.Gly487del)	PLA2G6 (G433del +4 more)	Microsatellite (inframe_deletion)	PLA2G6-related disorder +1 more	GConflicting classifications of pathogenicity
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 1087414	NM_003560.4(PLA2G6):c.438C>T (p.Cys146=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	PLA2G6-related disorder +1 more	GLikely benign
Select item 426191	NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)	PLA2G6 (R139H)	Single nucleotide variant (missense variant +1 more)	PLA2G6-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1572405	NM_003560.4(PLA2G6):c.402C>T (p.Cys134=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	Infantile neuroaxonal dystrophy +1 more	GBenign/Likely benign
Select item 2739055	NM_003560.4(PLA2G6):c.231G>A (p.Glu77=)	PLA2G6	Single nucleotide variant (synonymous variant +1 more)	PLA2G6-related disorder +1 more	GLikely benign
Select item 702710	NM_003560.4(PLA2G6):c.209+9dup	PLA2G6	Duplication (intron variant)	PLA2G6-related disorder +1 more	GLikely benign