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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627002	NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs)	RASGRP2 (F352fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 812732	NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs)	RASGRP2 (R494fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 812733	NM_001098671.2(RASGRP2):c.1033G>C (p.Ala345Pro)	RASGRP2 (A200P +1 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 18	GLikely pathogenic
Select item 627169	NM_001098671.2(RASGRP2):c.999G>C (p.Lys333Asn)	RASGRP2 (K333N +1 more)	Single nucleotide variant (missense variant)	Abnormal platelet aggregation	GLikely pathogenic
Select item 627184	NM_001098671.2(RASGRP2):c.914G>A (p.Gly305Asp)	RASGRP2 (G305D +1 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +2 more	GLikely pathogenic
Select item 627154	NM_001098671.2(RASGRP2):c.866A>G (p.Tyr289Cys)	RASGRP2 (Y289C +1 more)	Single nucleotide variant (missense variant)	Abnormal platelet aggregation	GLikely pathogenic
Select item 627389	NM_001098671.2(RASGRP2):c.814-16_814-5del	RASGRP2	Deletion (intron variant)	Abnormal platelet aggregation	GLikely pathogenic
Select item 627379	NM_001098671.2(RASGRP2):c.773T>C (p.Leu258Pro)	RASGRP2 (L258P +1 more)	Single nucleotide variant (missense variant)	Abnormal platelet aggregation	GLikely pathogenic
Select item 627361	NM_001098671.2(RASGRP2):c.704T>C (p.Leu235Pro)	RASGRP2 (L235P +1 more)	Single nucleotide variant (missense variant)	Abnormal platelet aggregation	GLikely pathogenic
Select item 417938	NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)	RASGRP2 (F181S +1 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 18	GConflicting classifications of pathogenicity
Select item 627204	NM_001098671.2(RASGRP2):c.372-3C>G	RASGRP2	Single nucleotide variant (intron variant)	Abnormal platelet aggregation	GLikely pathogenic
Select item 627041	NM_001098671.2(RASGRP2):c.239+2T>G	RASGRP2	Single nucleotide variant (splice donor variant)	Abnormal platelet aggregation	GLikely pathogenic