ClinVar for MedGen (Select 1782592) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3390952	NM_007214.5(SEC63):c.1936-9del	SEC63	Deletion (intron variant)	Glanzmann thrombasthenia 2	GBenign
Select item 3338985	NM_000212.3(ITGB3):c.1801T>A (p.Cys601Ser)	ITGB3 (C601S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 2	GPathogenic
Select item 3250463	NM_000212.3(ITGB3):c.1118C>T (p.Ala373Val)	ITGB3 (A373V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 2	GUncertain significance
Select item 2585284	NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs)	ITGB3 (L599fs)	Indel (frameshift variant)	Glanzmann thrombasthenia 2	GLikely pathogenic
Select item 2582206	NM_000212.3(ITGB3):c.2301+5G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506153	NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg)	ITGB3 (C575R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 2	GPathogenic
Select item 2444336	NM_000212.3(ITGB3):c.615-1G>A	ITGB3	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia 2	GPathogenic
Select item 1879043	NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln)	ITGB3 (R242Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 1703875	NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg)	ITGB3 (G27R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 2	GLikely pathogenic
Select item 1703874	NM_000212.3(ITGB3):c.59T>G (p.Leu20Arg)	ITGB3 (L20R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 1703872	NM_000212.3(ITGB3):c.1975C>T (p.Arg659Cys)	ITGB3 (R659C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 2	GUncertain significance
Select item 1691482	NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys)	ITGB3 (Y141C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 1691479	NM_000212.3(ITGB3):c.2031_2041del (p.Asp677fs)	ITGB3 (D677fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 1687167	NM_000212.3(ITGB3):c.1703G>A (p.Cys568Tyr)	ITGB3 (C568Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 2	GUncertain significance
Select item 1684352	NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser)	ITGB3 (N331S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 2	GUncertain significance
Select item 1330349	NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter)	ITGB3 (Y307*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 1330338	NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter)	ITGB3 (E468*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 1330327	NM_000212.3(ITGB3):c.652C>T (p.His218Tyr)	ITGB3, LOC130061043 (H218Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 1210194	NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg)	ITGB3 (C601R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 1210180	NM_000212.3(ITGB3):c.1835G>A (p.Cys612Tyr)	ITGB3 (C612Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 996202	NM_000212.3(ITGB3):c.647A>G (p.Tyr216Cys)	ITGB3, LOC130061043 (Y216C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 996188	NM_000212.3(ITGB3):c.431T>G (p.Met144Arg)	ITGB3 (M144R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 977131	NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter)	ITGB3 (C547*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 953061	NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter)	ITGB3 (R169*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 953053	NM_000212.3(ITGB3):c.448A>G (p.Met150Val)	ITGB3 (M150V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 953028	NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg)	ITGB3 (W11R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 890713	NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys)	ITGB3 (R487C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 850886	NM_000212.3(ITGB3):c.777+1G>A	ITGB3, LOC130061044	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 812736	NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)	ITGB3 (P189S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 800945	NM_000212.3(ITGB3):c.727G>C (p.Asp243His)	ITGB3 (D243H)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 627066	NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn)	ITGB3 (D145N)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 13569	NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp)	ITGB3 (G247D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significanceFDA 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 significanceFDA Recognized database
Select item 13567	NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp)	ITGB3 (L143W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 13565	NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter)	ITGB3 (E642*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 13564	NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)	EFCAB13-DT, ITGB3 (R750*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 13563	NG_008332.2:g.48605_58661del	ITGB3	Deletion	Glanzmann thrombasthenia 2	GPathogenic
Select item 13562	NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr)	ITGB3 (C400Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 13560	NM_000212.3(ITGB3):c.165+1G>T	ITGB3	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia 2	GPathogenic
Select item 13556	NM_000212.3(ITGB3):c.2332T>C (p.Ser778Pro)	EFCAB13-DT, ITGB3 (S778P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significanceFDA Recognized database
Select item 13555	NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)	ITGB3 (R240W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenicFDA Recognized database
Select item 13554	NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr)	ITGB3 (D145Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database
Select item 13553	NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)	ITGB3 (R240Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenicFDA Recognized database

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Links from MedGen

Items: 43