"PDE8B-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 791030	NM_003719.5(PDE8B):c.306G>A (p.Glu102=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1989977	NM_003719.5(PDE8B):c.1168-9C>T	PDE8B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 354162	NM_003719.5(PDE8B):c.1366-5G>A	PDE8B	Single nucleotide variant (intron variant)	PDE8B-related disorder +3 more	GBenign/Likely benign
Select item 708098	NM_003719.5(PDE8B):c.1533C>T (p.Asp511=)	PDE8B	Single nucleotide variant (synonymous variant)	PDE8B-related disorder +1 more	GLikely benign
Select item 3048094	NM_003719.5(PDE8B):c.1577-5C>T	PDE8B	Single nucleotide variant (intron variant)	PDE8B-related disorder	GLikely benign
Select item 354163	NM_003719.5(PDE8B):c.1698C>A (p.Ala566=)	PDE8B	Single nucleotide variant (synonymous variant)	PDE8B-related disorder +2 more	GBenign/Likely benign
Select item 3030200	NM_003719.5(PDE8B):c.2117A>G (p.Lys706Arg)	PDE8B (K485R +20 more)	Single nucleotide variant (missense variant)	PDE8B-related disorder	GUncertain significance
Select item 354168	NM_003719.5(PDE8B):c.2130G>A (p.Arg710=)	PDE8B	Single nucleotide variant (synonymous variant)	PDE8B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1496412	NM_003719.5(PDE8B):c.2144C>T (p.Thr715Met)	PDE8B (T567M +20 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 354173	NM_003719.5(PDE8B):c.2343C>T (p.Asp781=)	PDE8B	Single nucleotide variant (synonymous variant)	PDE8B-related disorder +2 more	GLikely benign