ClinVar for MedGen (Select 154224) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 627279	NM_000212.3(ITGB3):c.2227CTC[1] (p.Leu744del)	EFCAB13-DT, ITGB3 (L744del)	Microsatellite (inframe_deletion)	Thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 627268	NM_000419.5(ITGA2B):c.188+5G>T	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 627225	NM_000212.3(ITGB3):c.1302G>C (p.Gln434His)	ITGB3 (Q434H)	Single nucleotide variant (missense variant)	Abnormal platelet aggregation	GUncertain significance
Select item 627204	NM_001098671.2(RASGRP2):c.372-3C>G	RASGRP2	Single nucleotide variant (intron 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 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 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 627148	NM_001060.6(TBXA2R):c.848C>G (p.Ser283Cys)	TBXA2R (S283C)	Single nucleotide variant (missense variant)	Abnormal platelet aggregation	GUncertain significance
Select item 627136	NM_001060.6(TBXA2R):c.787-2A>G	TBXA2R	Single nucleotide variant (splice acceptor 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
Select item 627027	NM_000419.5(ITGA2B):c.1973del (p.Ala658fs)	ITGA2B (A658fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
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