"PreventionGenetics, part of Exact Sciences"[submitter] AND "RBBP8"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212018	NM_002894.3(RBBP8):c.109+6A>G	RBBP8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 739032	NM_002894.3(RBBP8):c.228C>T (p.Thr76=)	RBBP8	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1439181	NM_002894.3(RBBP8):c.279A>G (p.Ala93=)	RBBP8	Single nucleotide variant (synonymous variant)	RBBP8-related disorder +1 more	GLikely benign
Select item 130102	NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn)	RBBP8 (K357N)	Single nucleotide variant (missense variant)	RBBP8-related disorder +1 more	GBenign/Likely benign
Select item 723411	NM_002894.3(RBBP8):c.1242A>T (p.Glu414Asp)	RBBP8 (E414D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 326225	NM_002894.3(RBBP8):c.1290T>A (p.Thr430=)	RBBP8	Single nucleotide variant (synonymous variant)	RBBP8-related disorder +1 more	GBenign
Select item 130103	NM_002894.3(RBBP8):c.1367A>G (p.His456Arg)	RBBP8 (H456R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130104	NM_002894.3(RBBP8):c.1644T>C (p.Asp548=)	RBBP8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 130105	NM_002894.3(RBBP8):c.1766G>A (p.Arg589His)	RBBP8 (R589H)	Single nucleotide variant (missense variant)	RBBP8-related disorder +2 more	GBenign
Select item 1981238	NM_002894.3(RBBP8):c.1813-9C>A	RBBP8	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2799993	NM_002894.3(RBBP8):c.1827T>C (p.His609=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1638187	NM_002894.3(RBBP8):c.2287+56_2287+60del	RBBP8	Microsatellite (intron variant)	RBBP8-related disorder +1 more	GLikely benign