"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627053	NM_030773.4(TUBB1):c.28G>C (p.Gly10Arg)	TUBB1 (G10R)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 627037	NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)	TUBB1 (R77*)	Single nucleotide variant (nonsense)	Macrothrombocytopenia, isolated, 1, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 812737	NM_030773.4(TUBB1):c.297C>A (p.Asn99Lys)	TUBB1 (N99K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 627295	NM_030773.4(TUBB1):c.305C>T (p.Ala102Val)	TUBB1 (A102V)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 626929	NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	TUBB1 (G109E)	Single nucleotide variant (missense variant)	Thrombocytopenia +3 more	GConflicting classifications of pathogenicity
Select item 627307	NM_030773.4(TUBB1):c.421G>C (p.Gly141Arg)	TUBB1 (G141R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627071	NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg)	TUBB1 (G146R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 627077	NM_030773.4(TUBB1):c.483C>A (p.Asp161Glu)	TUBB1 (D161E)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627090	NM_030773.4(TUBB1):c.554C>T (p.Ala185Val)	TUBB1 (A185V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GUncertain significance
Select item 813272	NM_030773.4(TUBB1):c.704del (p.Gly235fs)	TUBB1 (G235fs)	Deletion (frameshift variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 627129	NM_030773.4(TUBB1):c.752G>A (p.Arg251His)	TUBB1 (R251H)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627132	NM_030773.4(TUBB1):c.766A>G (p.Asn256Asp)	TUBB1 (N256D)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 627378	NM_030773.4(TUBB1):c.773T>C (p.Val258Ala)	TUBB1 (V258A)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 627153	NM_030773.4(TUBB1):c.862G>A (p.Glu288Lys)	TUBB1 (E288K)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 627158	NM_030773.4(TUBB1):c.945C>A (p.Cys315Ter)	TUBB1 (C315*)	Single nucleotide variant (nonsense)	Thrombocytopenia	GLikely pathogenic
Select item 425	NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)	TUBB1 (R318W)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 627197	NM_030773.4(TUBB1):c.1041C>G (p.Asn347Lys)	TUBB1 (N347K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 626979	NM_030773.4(TUBB1):c.1194del (p.Trp397_Tyr398insTer)	TUBB1	Deletion (nonsense)	Macrothrombocytopenia	GLikely pathogenic