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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627167	NM_000173.7(GP1BA):c.98G>C (p.Cys33Ser)	GP1BA (C33S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 627001	NM_000173.7(GP1BA):c.148_149del (p.Thr50fs)	GP1BA (T50fs)	Deletion (frameshift variant)	Macrothrombocytopenia	GPathogenic
Select item 627016	NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)	GP1BA (N57K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 627031	NM_000173.7(GP1BA):c.200T>G (p.Leu67Arg)	GP1BA (L67R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 4154	NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe)	GP1BA (L73F)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GLikely pathogenic
Select item 626958	NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro)	GP1BA (L115P)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GPathogenic/Likely pathogenic
Select item 627062	NM_000173.7(GP1BA):c.407T>C (p.Leu136Pro)	GP1BA (L136P)	Single nucleotide variant (missense variant)	Thrombocytopenia	GLikely pathogenic
Select item 627076	NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser)	GP1BA (N150S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GLikely pathogenic
Select item 627316	NM_000173.7(GP1BA):c.470dup (p.Gly158fs)	GP1BA (G158fs)	Duplication (frameshift variant)	Thrombocytopenia	GLikely pathogenic
Select item 627355	NM_000173.7(GP1BA):c.658G>A (p.Gly220Arg)	GP1BA (G220R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +1 more	GUncertain significance
Select item 627183	NM_000173.7(GP1BA):c.745G>A (p.Gly249Ser)	GP1BA (G249S)	Single nucleotide variant (missense variant)	Thrombocytopenia	GLikely pathogenic
Select item 4155	NM_000173.7(GP1BA):c.763A>G (p.Met255Val)	GP1BA (M255V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic