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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627512	NC_000022.11:g.19721912_19724790del	GP1BB, SEPT5-GP1BB +1 more	Deletion	Macrothrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 812741	NM_000407.5(GP1BB):c.3G>C (p.Met1Ile)	GP1BB, SEPT5-GP1BB (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 627320	NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)	GP1BB, SEPT5-GP1BB (L16P)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 812969	NM_000407.5(GP1BB):c.69_83del (p.Ala24_Ala28del)	GP1BB, SEPT5-GP1BB	Deletion (non-coding transcript variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 626963	NM_000407.5(GP1BB):c.106C>T (p.Leu36Phe)	GP1BB, SEPT5-GP1BB (L36F)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal bleeding	GUncertain significance
Select item 812970	NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)	GP1BB, SEPT5-GP1BB (G43W)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GConflicting classifications of pathogenicity
Select item 16040	NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)	GP1BB, SEPT5-GP1BB (W46*)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome +1 more	GLikely pathogenic
Select item 627237	NM_000407.5(GP1BB):c.143C>A (p.Ser48Ter)	GP1BB, SEPT5-GP1BB (S48*)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GPathogenic
Select item 812971	NM_000407.5(GP1BB):c.203C>T (p.Thr68Met)	GP1BB, SEPT5-GP1BB (T68M)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 627272	NM_000407.5(GP1BB):c.212C>T (p.Pro71Leu)	GP1BB, SEPT5-GP1BB (P71L)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 627039	NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del)	GP1BB, SEPT5-GP1BB	Deletion (non-coding transcript variant +1 more)	Thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 627297	NM_000407.5(GP1BB):c.307T>C (p.Trp103Arg)	GP1BB, SEPT5-GP1BB (W103R)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GUncertain significance
Select item 627056	NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln)	GP1BB, SEPT5-GP1BB (L132Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GLikely pathogenic
Select item 627061	NM_000407.5(GP1BB):c.407A>G (p.Glu136Gly)	GP1BB, SEPT5-GP1BB (E136G)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 627304	NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro)	GP1BB, SEPT5-GP1BB (L137P)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 627068	NM_000407.5(GP1BB):c.434C>G (p.Pro145Arg)	GP1BB, SEPT5-GP1BB (P145R)	Single nucleotide variant (non-coding transcript variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 627075	NM_000407.5(GP1BB):c.448del (p.Ala150fs)	GP1BB, SEPT5-GP1BB (A150fs)	Deletion (non-coding transcript variant +1 more)	Thrombocytopenia	GLikely pathogenic
Select item 627082	NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup)	GP1BB, SEPT5-GP1BB	Duplication (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 627087	NM_000407.5(GP1BB):c.515T>C (p.Leu172Pro)	GP1BB, SEPT5-GP1BB (L172P)	Single nucleotide variant (non-coding transcript variant +1 more)	Macrothrombocytopenia	GUncertain significance
Select item 627091	NM_000407.5(GP1BB):c.555_556insA (p.Ala186fs)	GP1BB, SEPT5-GP1BB (A186fs)	Insertion (non-coding transcript variant +1 more)	Macrothrombocytopenia	GLikely pathogenic
Select item 827754	Single allele	USP41, ZDHHC8 +46 more	Deletion	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 812919	Single allele	AIFM3, ARVCF +76 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 627510	Single allele	ARVCF, COMT +24 more	Deletion	Deep venous thrombosis	GLikely pathogenic
Select item 627506	Single allele	ARVCF, COMT +24 more	Deletion	Abnormal bleeding	GLikely pathogenic

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Items: 24