ClinVar for MedGen (Select 1785711) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2408588	NM_000212.3(ITGB3):c.2279G>A (p.Arg760His)	EFCAB13-DT, ITGB3 (R760H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1803282	NM_000212.3(ITGB3):c.1843A>G (p.Ile615Val)	ITGB3 (I615V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1703876	NM_000212.3(ITGB3):c.1703G>T (p.Cys568Phe)	ITGB3 (C568F)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 24	GUncertain significance
Select item 1703873	NM_000212.3(ITGB3):c.541G>A (p.Ala181Thr)	ITGB3 (A181T)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 24	GUncertain significance
Select item 1697255	NM_000212.3(ITGB3):c.2278C>T (p.Arg760Cys)	EFCAB13-DT, ITGB3 (R760C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1697254	NM_000212.3(ITGB3):c.2243A>C (p.His748Pro)	EFCAB13-DT, ITGB3 (H748P)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 24	GUncertain significance
Select item 1697253	NM_000212.3(ITGB3):c.2236A>C (p.Thr746Pro)	EFCAB13-DT, ITGB3 (T746P)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 24	GUncertain significance
Select item 1693575	NM_000212.3(ITGB3):c.1036-2A>G	ITGB3	Single nucleotide variant (splice acceptor variant)	Bleeding disorder, platelet-type, 24	GPathogenic
Select item 1693574	NM_000212.3(ITGB3):c.2209G>A (p.Ala737Thr)	EFCAB13-DT, ITGB3 (A737T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693573	NM_000212.3(ITGB3):c.173del (p.Pro58fs)	ITGB3 (P58fs)	Deletion (frameshift variant)	Bleeding disorder, platelet-type, 24	GUncertain significance
Select item 1199410	NM_000212.3(ITGB3):c.1132C>T (p.Arg378Cys)	ITGB3 (R378C)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 24	GLikely pathogenic
Select item 953053	NM_000212.3(ITGB3):c.448A>G (p.Met150Val)	ITGB3 (M150V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 890713	NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys)	ITGB3 (R487C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 890134	NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe)	ITGB3 (L116F)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 50229	NM_000212.3(ITGB3):c.2231T>C (p.Leu744Pro)	EFCAB13-DT, ITGB3 (L744P)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 24	GUncertain significance
Select item 50228	NM_000212.3(ITGB3):c.2134+1G>C	ITGB3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 50227	NM_000212.3(ITGB3):c.2245G>C (p.Asp749His)	EFCAB13-DT, ITGB3 (D749H)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 24	GPathogenic