"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627498	NM_001987.5(ETV6):c.464-50_1009+50del	ETV6	Deletion (splice acceptor variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 627138	NM_001987.5(ETV6):c.791G>A (p.Arg264His)	ETV6 (R264H)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 627198	NM_001987.5(ETV6):c.1043T>C (p.Leu348Ser)	ETV6, LOC126861452 (L348S)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 626971	NM_001987.5(ETV6):c.1105C>T (p.Arg369Trp)	ETV6, LOC126861452 (R369W)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GPathogenic/Likely pathogenic
Select item 812967	NM_001987.5(ETV6):c.1201T>C (p.Tyr401His)	ETV6 (Y401H)	Single nucleotide variant (missense variant)	Thrombocytopenia	GLikely pathogenic
Select item 626985	NM_001987.5(ETV6):c.1251C>G (p.Phe417Leu)	ETV6 (F417L)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance

ClinVar