C5543273[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13560	NM_000212.3(ITGB3):c.165+1G>T	ITGB3	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia 2	GPathogenic
Select item 13567	NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp)	ITGB3 (L143W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 13554	NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr)	ITGB3 (D145Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 13555	NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)	ITGB3 (R240W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 13553	NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)	ITGB3 (R240Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 13569	NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp)	ITGB3 (G247D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 13568	NM_000212.3(ITGB3):c.836A>T (p.Lys279Met)	ITGB3, LOC130061045 (K279M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 13562	NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr)	ITGB3 (C400Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 13565	NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter)	ITGB3 (E642*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1691479	NM_000212.3(ITGB3):c.2031_2041del (p.Asp677fs)	ITGB3 (D677fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 13564	NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)	EFCAB13-DT, ITGB3 (R750*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 13556	NM_000212.3(ITGB3):c.2332T>C (p.Ser778Pro)	EFCAB13-DT, ITGB3 (S778P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 13563	NG_008332.2:g.48605_58661del	ITGB3	Deletion	Glanzmann thrombasthenia 2	GPathogenic