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

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812738	NM_001754.5(RUNX1):c.1164del (p.Ser389fs)	RUNX1 (S362fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 618862	NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter)	RUNX1 (R320* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 627152	NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter)	RUNX1 (Y287* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 627384	NM_001754.5(RUNX1):c.784C>T (p.Gln262Ter)	RUNX1 (Q262* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 627101	NM_001754.5(RUNX1):c.622C>T (p.Gln208Ter)	RUNX1 (Q208* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 561253	NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)	RUNX1, RUNX1-AS1 (R204Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 561252	NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)	RUNX1, RUNX1-AS1 (R204* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 627343	NM_001754.5(RUNX1):c.595G>A (p.Gly199Arg)	RUNX1, RUNX1-AS1 (G199R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 627342	NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)	RUNX1, RUNX1-AS1 (D198V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 627100	NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn)	RUNX1, RUNX1-AS1 (I193N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 812739	NM_001754.5(RUNX1):c.508+1G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 627081	NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter)	RUNX1, RUNX1-AS1 (G168* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 376022	NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly)	RUNX1, RUNX1-AS1 (R162G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 812740	NM_001754.5(RUNX1):c.320G>A (p.Arg107His)	RUNX1 (R107H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 812918	NC_000021.8:g.36323351_37470324del	CBR1, RUNX1 +1 more	Deletion	Thrombocytopenia	GPathogenic
Select item 812917	NC_000021.8:g.36318516_37184936del	RUNX1	Deletion	Thrombocytopenia	GLikely pathogenic
Select item 812916	NC_000021.8:g.36284364_37074805del	RUNX1	Deletion	Thrombocytopenia	GPathogenic
Select item 812915	NC_000021.9:g.34791392_34804065del	RUNX1	Deletion	Thrombocytopenia	GPathogenic
Select item 812914	NC_000021.8:g.35304355_36865958del	KCNE1, KCNE2 +6 more	Deletion	Thrombocytopenia	GLikely pathogenic
Select item 812913	NC_000021.8:g.35304341_36865875del	CLIC6, KCNE1 +6 more	Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 627508	Single allele	RUNX1	Deletion	Thrombocytopenia	GLikely pathogenic

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: 21