"ITGB3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2988732	NM_000212.3(ITGB3):c.27G>A (p.Pro9=)	ITGB3	Single nucleotide variant (synonymous variant)	ITGB3-related disorder +1 more	GLikely benign
Select item 2732429	NM_000212.3(ITGB3):c.96C>T (p.Thr32=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 752207	NM_000212.3(ITGB3):c.165+8G>A	ITGB3	Single nucleotide variant (intron variant)	ITGB3-related disorder +1 more	GLikely benign
Select item 696251	NM_000212.3(ITGB3):c.285C>T (p.Leu95=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 2737118	NM_000212.3(ITGB3):c.303A>G (p.Gly101=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 996166	NM_000212.3(ITGB3):c.353T>A (p.Leu118His)	ITGB3 (L118H)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 2886566	NM_000212.3(ITGB3):c.369G>A (p.Ser123=)	ITGB3	Single nucleotide variant (synonymous variant)	ITGB3-related disorder +1 more	GLikely benign
Select item 2378150	NM_000212.3(ITGB3):c.527G>A (p.Arg176Gln)	ITGB3 (R176Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 323864	NM_000212.3(ITGB3):c.537C>T (p.Phe179=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 696041	NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu)	ITGB3 (P186L)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 2189390	NM_000212.3(ITGB3):c.682C>T (p.Arg228Cys)	ITGB3 (R228C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2635781	NM_000212.3(ITGB3):c.824C>T (p.Thr275Ile)	ITGB3, LOC130061045 (T275I)	Single nucleotide variant (missense variant)	ITGB3-related disorder	GUncertain significance
Select item 2185566	NM_000212.3(ITGB3):c.830A>T (p.Asp277Val)	ITGB3, LOC130061045 (D277V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 435536	NM_000212.3(ITGB3):c.900T>C (p.His300=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 695750	NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu)	ITGB3 (K324E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 890709	NM_000212.3(ITGB3):c.1143A>T (p.Val381=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 323869	NM_000212.3(ITGB3):c.1902C>T (p.Cys634=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 695917	NM_000212.3(ITGB3):c.1959C>T (p.Asp653=)	ITGB3	Single nucleotide variant (synonymous variant)	ITGB3-related disorder +2 more	GBenign/Likely benign
Select item 225395	NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys)	ITGB3 (E654K)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 2630707	NM_000212.3(ITGB3):c.2193_2195dup (p.Leu732_Ile733insLeu)	EFCAB13-DT, ITGB3	Duplication (inframe_insertion +1 more)	ITGB3-related disorder	GUncertain significance
Select item 696104	NM_000212.3(ITGB3):c.2196C>T (p.Leu732=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 2629410	NM_000212.3(ITGB3):c.2245G>A (p.Asp749Asn)	EFCAB13-DT, ITGB3 (D749N)	Single nucleotide variant (missense variant)	ITGB3-related disorder +1 more	GUncertain significance
Select item 2716061	NM_000212.3(ITGB3):c.2259C>T (p.Phe753=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 23