"OMIM"[submitter] AND "NBEAL2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31117	NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter)	NBEAL2 (S287*)	Single nucleotide variant (nonsense)	Gray platelet syndrome	GPathogenic
Select item 31118	NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro)	NBEAL2 (L388P +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GPathogenic
Select item 31121	NM_015175.3(NBEAL2):c.1823G>A (p.Trp608Ter)	NBEAL2 (W608* +1 more)	Single nucleotide variant (nonsense)	Gray platelet syndrome	GPathogenic
Select item 31119	NM_015175.3(NBEAL2):c.1928A>T (p.Glu643Val)	NBEAL2 (E643V +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GPathogenic
Select item 31116	NM_015175.3(NBEAL2):c.2701C>T (p.Arg901Ter)	NBEAL2 (R901* +1 more)	Single nucleotide variant (nonsense)	Gray platelet syndrome	GPathogenic
Select item 31122	NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs)	NBEAL2 (A1805fs +1 more)	Duplication (frameshift variant)	Gray platelet syndrome	GPathogenic
Select item 31120	NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu)	NBEAL2 (P2100L +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GPathogenic

ClinVar