"PPA2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735007	NM_176869.3(PPA2):c.627G>A (p.Ala209=)	PPA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2862534	NM_176869.3(PPA2):c.442-7dup	PPA2	Duplication (intron variant)	PPA2-related disorder +1 more	GBenign/Likely benign
Select item 1601803	NM_176869.3(PPA2):c.442-7del	PPA2	Deletion (intron variant)	PPA2-related disorder +1 more	GBenign/Likely benign
Select item 755322	NM_176869.3(PPA2):c.53T>G (p.Leu18Arg)	PPA2 (L18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 755323	NM_176869.3(PPA2):c.52C>A (p.Leu18Met)	PPA2 (L18M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign

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