"ITGA2B-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627299	NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp)	ITGA2B (E1033D)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2629692	NM_000419.5(ITGA2B):c.3077G>T (p.Arg1026Leu)	ITGA2B (R1026L)	Single nucleotide variant (missense variant)	ITGA2B-related disorder	GUncertain significance
Select item 417951	NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr)	ITGA2B (A989T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 3047462	NM_000419.5(ITGA2B):c.2733C>T (p.Cys911=)	ITGA2B	Single nucleotide variant (synonymous variant)	ITGA2B-related disorder	GLikely benign
Select item 695309	NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met)	ITGA2B (V868M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia +2 more	GLikely benign
Select item 3061298	NM_000419.5(ITGA2B):c.2581C>T (p.Pro861Ser)	ITGA2B (P861S)	Single nucleotide variant (missense variant)	ITGA2B-related disorder	GUncertain significance
Select item 890527	NM_000419.5(ITGA2B):c.2349-11G>A	ITGA2B	Single nucleotide variant (intron variant)	ITGA2B-related disorder +2 more	GBenign/Likely benign
Select item 697947	NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia +1 more	GBenign/Likely benign
Select item 225393	NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)	ITGA2B (Q778P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 323547	NM_000419.5(ITGA2B):c.2127G>A (p.Lys709=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1979547	NM_000419.5(ITGA2B):c.2094+10C>A	ITGA2B	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia +2 more	GBenign/Likely benign
Select item 323550	NM_000419.5(ITGA2B):c.1848G>A (p.Val616=)	ITGA2B	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 891088	NM_000419.5(ITGA2B):c.1846G>A (p.Val616Met)	ITGA2B (V616M)	Single nucleotide variant (missense variant)	ITGA2B-related disorder +1 more	GBenign/Likely benign
Select item 2630607	NM_000419.5(ITGA2B):c.1788del (p.Ile596fs)	ITGA2B (I596fs)	Deletion (frameshift variant)	ITGA2B-related disorder	GLikely pathogenic
Select item 323553	NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp)	ITGA2B (R543W)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 2636711	NM_000419.5(ITGA2B):c.1447C>T (p.Pro483Ser)	ITGA2B (P483S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia +1 more	GUncertain significance
Select item 3032522	NM_000419.5(ITGA2B):c.1394-3T>C	ITGA2B	Single nucleotide variant (intron variant)	ITGA2B-related disorder	GLikely benign
Select item 2631435	NM_000419.5(ITGA2B):c.1296_1311del (p.Arg433fs)	ITGA2B (R433fs)	Deletion (frameshift variant)	ITGA2B-related disorder	GLikely pathogenic
Select item 381748	NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg)	ITGA2B (G412R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1336530	NM_000419.5(ITGA2B):c.1210+8A>G	ITGA2B	Single nucleotide variant (intron variant)	ITGA2B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3031705	NM_000419.5(ITGA2B):c.671-5C>G	ITGA2B	Single nucleotide variant (intron variant)	ITGA2B-related disorder	GLikely benign
Select item 2635115	NM_000419.5(ITGA2B):c.602G>C (p.Gly201Ala)	ITGA2B (G201A)	Single nucleotide variant (missense variant)	ITGA2B-related disorder	GUncertain significance
Select item 2885528	NM_000419.5(ITGA2B):c.495G>T (p.Gln165His)	ITGA2B (Q165H)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia +1 more	GUncertain significance
Select item 634433	NM_000419.5(ITGA2B):c.457G>A (p.Ala153Thr)	ITGA2B (A153T)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 3030823	NM_000419.5(ITGA2B):c.231C>T (p.Ser77=)	ITGA2B	Single nucleotide variant (synonymous variant)	ITGA2B-related disorder	GLikely benign
Select item 3040951	NM_000419.5(ITGA2B):c.198C>A (p.Ile66=)	ITGA2B	Single nucleotide variant (synonymous variant)	ITGA2B-related disorder	GLikely benign
Select item 3032379	NM_000419.5(ITGA2B):c.128C>T (p.Ala43Val)	ITGA2B (A43V)	Single nucleotide variant (missense variant)	ITGA2B-related disorder	GUncertain significance
Select item 2631001	NM_000419.5(ITGA2B):c.68C>G (p.Pro23Arg)	ITGA2B (P23R)	Single nucleotide variant (missense variant)	ITGA2B-related disorder	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28